id,variation,vep_hgvs_c,vep_hgvs_p,vep_exon,vep_intron,final_pathogenicity,final_disease,vep_consequence,vep_cadd_phred,overall_max_maf,overall_max_maf_source,gene
438440,2:71163035:T>A,NM_001692.3:c.-50T>A,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,12.79,0.0000876578,EXAC_AMR_AF,ATP6V1B1
438441,2:71163038:C>CACCA,NM_001692.3:c.-46_-43dup,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,12.39,0.0000157248,EXAC_NFE_AF,ATP6V1B1
438442,2:71163041:C>G,NM_001692.3:c.-44C>G,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,8.373,\N,\N,ATP6V1B1
438443,2:71163043:G>A,NM_001692.3:c.-42G>A,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,8.013,0.0000724428,EXAC_SAS_AF,ATP6V1B1
438444,2:71163046:G>T,NM_001692.3:c.-39G>T,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,1.208,0.000015672,EXAC_NFE_AF,ATP6V1B1
438445,2:71163051:C>T,NM_001692.3:c.-34C>T,\N,1/14,\N,Benign,\N,5_prime_UTR_variant,9.976,0.238472,EXAC_EAS_AF,ATP6V1B1
438446,2:71163053:C>G,NM_001692.3:c.-32C>G,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,5.203,0.000348837,EVS_EA_AF,ATP6V1B1
438447,2:71163053:C>T,NM_001692.3:c.-32C>T,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,7.319,0.0000155545,EXAC_NFE_AF,ATP6V1B1
438448,2:71163066:C>A,NM_001692.3:c.-19C>A,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,6.92,0.0000154799,EXAC_NFE_AF,ATP6V1B1
438449,2:71163066:C>T,NM_001692.3:c.-19C>T,\N,1/14,\N,Benign,\N,5_prime_UTR_variant,6.653,0.0287,1KG_AFR_AF,ATP6V1B1
438450,2:71163068:C>T,NM_001692.3:c.-17C>T,\N,1/14,\N,Benign,\N,5_prime_UTR_variant,6.087,0.00748979,EVS_AA_AF,ATP6V1B1
438451,2:71163071:C>T,NM_001692.3:c.-14C>T,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,1.879,0.000065634,EXAC_SAS_AF,ATP6V1B1
438452,2:71163074:G>A,NM_001692.3:c.-11G>A,\N,1/14,\N,Unknown significance,\N,5_prime_UTR_variant,0.695,0.0000650703,EXAC_SAS_AF,ATP6V1B1
438453,2:71163086:T>C,NM_001692.3:c.2T>C,NP_001683.2:p.Met1?,1/14,\N,Benign,\N,start_lost,23.4,0.5,EXAC_FIN_AF,ATP6V1B1
438454,2:71163087:G>A,NM_001692.3:c.3G>A,NP_001683.2:p.Met1?,1/14,\N,Unknown significance,\N,start_lost,22.4,0.001,1KG_EAS_AF,ATP6V1B1
438455,2:71163088:G>T,NM_001692.3:c.4G>T,NP_001683.2:p.Ala2Ser,1/14,\N,Unknown significance,\N,missense_variant,21.3,0.00113482,EVS_AA_AF,ATP6V1B1
438456,2:71163091:ATGGAGATAGACAGCAGGCC>A,NM_001692.3:c.11_29del,NP_001683.2:p.Glu4GlyfsTer10,1/14,\N,Unknown significance,\N,frameshift_variant,27.8,\N,\N,ATP6V1B1
438457,2:71163092:T>C,NM_001692.3:c.8T>C,NP_001683.2:p.Met3Thr,1/14,\N,Likely benign,\N,missense_variant,0.001,0.0000867002,EXAC_AMR_AF,ATP6V1B1
438458,2:71163110:CT>C,NM_001692.3:c.27del,NP_001683.2:p.Leu12SerfsTer8,1/14,\N,Unknown significance,\N,frameshift_variant,19,0.0000605822,EXAC_NFE_AF,ATP6V1B1
438459,2:71163111:T>C,NM_001692.3:c.27T>C,NP_001683.2:p.Pro9=,1/14,\N,Benign,\N,synonymous_variant,0.438,0.24154,EXAC_EAS_AF,ATP6V1B1
438460,2:71163111:TG>T,NM_001692.3:c.33del,NP_001683.2:p.Leu12SerfsTer8,1/14,\N,Pathogenic,Renal tubular acidosis,frameshift_variant,23.7,\N,\N,ATP6V1B1
438461,2:71163112:G>C,NM_001692.3:c.28G>C,NP_001683.2:p.Gly10Arg,1/14,\N,Likely benign,\N,missense_variant,9.079,0.0000605565,EXAC_NFE_AF,ATP6V1B1
438462,2:71163114:G>C,NM_001692.3:c.30G>C,NP_001683.2:p.Gly10=,1/14,\N,Unknown significance,\N,synonymous_variant,1.552,0.0000302416,EXAC_NFE_AF,ATP6V1B1
438463,2:71163115:G>A,NM_001692.3:c.31G>A,NP_001683.2:p.Gly11Arg,1/14,\N,Likely benign,\N,missense_variant,8.772,0.0000151194,EXAC_NFE_AF,ATP6V1B1
438464,2:71163117:G>A,NM_001692.3:c.33G>A,NP_001683.2:p.Gly11=,1/14,\N,Unknown significance,\N,synonymous_variant,4.179,0.000388802,EXAC_AFR_AF,ATP6V1B1
438465,2:71163117:G>C,NM_001692.3:c.33G>C,NP_001683.2:p.Gly11=,1/14,\N,Unknown significance,\N,synonymous_variant,0.853,0.0000151158,EXAC_NFE_AF,ATP6V1B1
438466,2:71163120:C>A,NM_001692.3:c.36C>A,NP_001683.2:p.Leu12=,1/14,\N,Unknown significance,\N,synonymous_variant,11.8,0.0000151108,EXAC_NFE_AF,ATP6V1B1
438467,2:71163123:C>T,NM_001692.3:c.39C>T,NP_001683.2:p.Pro13=,1/14,\N,Unknown significance,\N,synonymous_variant,12.08,0.000259875,EXAC_AMR_AF,ATP6V1B1
438468,2:71163124:G>A,NM_001692.3:c.40G>A,NP_001683.2:p.Gly14Ser,1/14,\N,Benign,\N,missense_variant,0.002,0.00801208,EXAC_EAS_AF,ATP6V1B1
438469,2:71163124:G>C,NM_001692.3:c.40G>C,NP_001683.2:p.Gly14Arg,1/14,\N,Likely benign,\N,missense_variant,6.318,0.0000151012,EXAC_NFE_AF,ATP6V1B1
438470,2:71163125:G>C,NM_001692.3:c.41G>C,NP_001683.2:p.Gly14Ala,1/14,\N,Likely benign,\N,missense_variant,3.174,\N,\N,ATP6V1B1
438471,2:71163131:G>C,NM_001692.3:c.47G>C,NP_001683.2:p.Ser16Thr,1/14,\N,Likely benign,\N,missense_variant,0.002,0.001,1KG_SAS_AF,ATP6V1B1
438472,2:71163134:G>A,NM_001692.3:c.50G>A,NP_001683.2:p.Cys17Tyr,1/14,\N,Likely benign,\N,missense_variant,8.335,0.000030175,EXAC_NFE_AF,ATP6V1B1
438473,2:71163149:C>T,NM_001692.3:c.65C>T,NP_001683.2:p.Ala22Val,1/14,\N,Likely benign,\N,missense_variant,15.89,0.0008,1KG_AFR_AF,ATP6V1B1
438474,2:71163152:G>C,NM_001692.3:c.68G>C,NP_001683.2:p.Arg23Pro,1/14,\N,Likely benign,\N,missense_variant,19.02,0.0000150616,EXAC_NFE_AF,ATP6V1B1
438475,2:71163156:A>G,NM_001692.3:c.72A>G,NP_001683.2:p.Glu24=,1/14,\N,Unknown significance,\N,synonymous_variant,0.267,0.0000865052,EXAC_AMR_AF,ATP6V1B1
438476,2:71163159:C>T,NM_001692.3:c.75C>T,NP_001683.2:p.His25=,1/14,\N,Unknown significance,\N,synonymous_variant,10.85,\N,\N,ATP6V1B1
438477,2:71163160:A>G,NM_001692.3:c.76A>G,NP_001683.2:p.Met26Val,1/14,\N,Likely benign,\N,missense_variant,0.002,0.0000150566,EXAC_NFE_AF,ATP6V1B1
438478,2:71163161:T>C,NM_001692.3:c.77T>C,NP_001683.2:p.Met26Thr,1/14,\N,Likely benign,\N,missense_variant,5.959,0.00301275,EXAC_EAS_AF,ATP6V1B1
438479,2:71163162:G>A,NM_001692.3:c.78G>A,NP_001683.2:p.Met26Ile,1/14,\N,Likely benign,\N,missense_variant,12.49,\N,\N,ATP6V1B1
438480,2:71163165:G>A,NM_001692.3:c.81G>A,NP_001683.2:p.Gln27=,1/14,\N,Unknown significance,\N,synonymous_variant,8.052,0.0000150548,EXAC_NFE_AF,ATP6V1B1
438481,2:71163167:C>A,NM_001692.3:c.83C>A,NP_001683.2:p.Ala28Glu,1/14,\N,Unknown significance,\N,missense_variant,24.6,0.0000150548,EXAC_NFE_AF,ATP6V1B1
438482,2:71163167:C>T,NM_001692.3:c.83C>T,NP_001683.2:p.Ala28Val,1/14,\N,Unknown significance,\N,missense_variant,24.8,0.0014,1KG_AMR_AF,ATP6V1B1
438483,2:71163168:G>A,NM_001692.3:c.84G>A,NP_001683.2:p.Ala28=,1/14,\N,Unknown significance,\N,synonymous_variant,16.07,0.0000150543,EXAC_NFE_AF,ATP6V1B1
438484,2:71163173:C>T,NM_001692.3:c.89C>T,NP_001683.2:p.Thr30Ile,1/14,\N,Benign,\N,missense_variant,22.7,0.270195,EXAC_AMR_AF,ATP6V1B1
438485,2:71163175:C>T,NM_001692.3:c.91C>T,NP_001683.2:p.Arg31Ter,1/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,stop_gained,36,\N,\N,ATP6V1B1
438486,2:71163176:G>A,NM_001692.3:c.92G>A,NP_001683.2:p.Arg31Gln,1/14,\N,Likely benign,\N,missense_variant,23.5,0.000226963,EVS_AA_AF,ATP6V1B1
438487,2:71163185:T>C,NM_001692.3:c.101T>C,NP_001683.2:p.Ile34Thr,1/14,\N,Likely benign,\N,missense_variant,17.2,0.0000865351,EXAC_AMR_AF,ATP6V1B1
438488,2:71163193:C>G,NM_001692.3:c.109C>G,NP_001683.2:p.Pro37Ala,1/14,\N,Unknown significance,\N,missense_variant,23.3,0.000695088,EXAC_EAS_AF,ATP6V1B1
438489,2:71163196:C>T,NM_001692.3:c.112C>T,NP_001683.2:p.Arg38Cys,1/14,\N,Unknown significance,\N,missense_variant,24.4,0.000348837,EVS_EA_AF,ATP6V1B1
438490,2:71163197:G>A,NM_001692.3:c.113G>A,NP_001683.2:p.Arg38His,1/14,\N,Unknown significance,\N,missense_variant,23.7,0.000347544,EXAC_EAS_AF,ATP6V1B1
438491,2:71163211:C>A,NM_001692.3:c.118+9C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,16.31,0.0000602627,EXAC_NFE_AF,ATP6V1B1
438492,2:71163211:C>T,NM_001692.3:c.118+9C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.45,0.0000972006,EXAC_AFR_AF,ATP6V1B1
438493,2:71163212:C>T,NM_001692.3:c.118+10C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.2,0.000232558,EVS_EA_AF,ATP6V1B1
438494,2:71163213:C>G,NM_001692.3:c.118+11C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,11.05,0.0000150689,EXAC_NFE_AF,ATP6V1B1
438495,2:71163219:C>T,NM_001692.3:c.118+17C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,7.683,0.0000607607,EXAC_SAS_AF,ATP6V1B1
438496,2:71163220:C>T,NM_001692.3:c.118+18C>T,\N,\N,1/13,Benign,\N,intron_variant,7.076,0.0482063,EXAC_OTH_AF,ATP6V1B1
438497,2:71163221:G>A,NM_001692.3:c.118+19G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.566,0.000433576,EXAC_AMR_AF,ATP6V1B1
438498,2:71163221:G>GTGAC,NM_001692.3:c.118+20_118+23dup,\N,\N,1/13,Unknown significance,\N,intron_variant,1.212,0.0000607755,EXAC_SAS_AF,ATP6V1B1
438499,2:71163225:C>T,NM_001692.3:c.118+23C>T,\N,\N,1/13,Benign,\N,intron_variant,2.994,0.496801,EXAC_FIN_AF,ATP6V1B1
438500,2:71163228:G>A,NM_001692.3:c.118+26G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.274,0.0000613121,EXAC_SAS_AF,ATP6V1B1
438501,2:71163229:T>G,NM_001692.3:c.118+27T>G,\N,\N,1/13,Unknown significance,\N,intron_variant,7.768,0.0015,1KG_AFR_AF,ATP6V1B1
438502,2:71163233:G>A,NM_001692.3:c.118+31G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.361,\N,\N,ATP6V1B1
438503,2:71163235:C>T,NM_001692.3:c.118+33C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,7.18,0.0014,1KG_AMR_AF,ATP6V1B1
438504,2:71163237:G>C,NM_001692.3:c.118+35G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.856,\N,\N,ATP6V1B1
438505,2:71163241:G>A,NM_001692.3:c.118+39G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,12.33,0.000308109,EXAC_SAS_AF,ATP6V1B1
438506,2:71163243:G>A,NM_001692.3:c.118+41G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,12.89,0.000123305,EXAC_SAS_AF,ATP6V1B1
438507,2:71163252:G>A,NM_001692.3:c.118+50G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.638,0.001,1KG_EAS_AF,ATP6V1B1
438508,2:71163254:G>A,NM_001692.3:c.118+52G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.387,0.000377644,EVS_AA_AF,ATP6V1B1
438509,2:71163257:C>T,NM_001692.3:c.118+55C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.972,\N,\N,ATP6V1B1
438510,2:71163273:C>T,NM_001692.3:c.118+71C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.105,0.0008,1KG_AFR_AF,ATP6V1B1
438511,2:71163276:C>T,NM_001692.3:c.118+74C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.451,0.0008,1KG_AFR_AF,ATP6V1B1
438512,2:71163277:G>A,NM_001692.3:c.118+75G>A,\N,\N,1/13,Benign,\N,intron_variant,2.826,0.0331,1KG_AMR_AF,ATP6V1B1
438513,2:71163299:G>A,NM_001692.3:c.118+97G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.049,\N,\N,ATP6V1B1
438514,2:71163350:C>T,NM_001692.3:c.118+148C>T,\N,\N,1/13,Benign,\N,intron_variant,0.154,0.1988,1KG_AMR_AF,ATP6V1B1
438515,2:71163352:C>T,NM_001692.3:c.118+150C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.564,0.0014,1KG_AMR_AF,ATP6V1B1
438516,2:71163354:G>C,NM_001692.3:c.118+152G>C,\N,\N,1/13,Benign,\N,intron_variant,4.755,0.0331,1KG_AMR_AF,ATP6V1B1
438517,2:71163376:C>T,NM_001692.3:c.118+174C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.4,0.0008,1KG_AFR_AF,ATP6V1B1
438518,2:71163390:G>A,NM_001692.3:c.118+188G>A,\N,\N,1/13,Benign,\N,intron_variant,14.55,0.062,1KG_AFR_AF,ATP6V1B1
438519,2:71163445:C>T,NM_001692.3:c.118+243C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.888,0.001,1KG_EUR_AF,ATP6V1B1
438520,2:71163459:A>G,NM_001692.3:c.118+257A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,7.009,0.0014,1KG_AMR_AF,ATP6V1B1
438521,2:71163513:G>A,NM_001692.3:c.118+311G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.776,\N,\N,ATP6V1B1
438522,2:71163517:G>A,NM_001692.3:c.118+315G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.636,\N,\N,ATP6V1B1
438523,2:71163538:G>A,NM_001692.3:c.118+336G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.718,\N,\N,ATP6V1B1
438524,2:71163543:C>T,NM_001692.3:c.118+341C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.528,\N,\N,ATP6V1B1
438525,2:71163547:C>T,NM_001692.3:c.118+345C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.859,\N,\N,ATP6V1B1
438526,2:71163565:A>AC,NM_001692.3:c.118+366dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438527,2:71163590:G>T,NM_001692.3:c.118+388G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.736,0.001,1KG_EAS_AF,ATP6V1B1
438528,2:71163631:G>C,NM_001692.3:c.118+429G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.223,0.0008,1KG_AFR_AF,ATP6V1B1
438529,2:71163639:G>A,NM_001692.3:c.118+437G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.183,0.001,1KG_SAS_AF,ATP6V1B1
438530,2:71163648:G>A,NM_001692.3:c.118+446G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.612,0.0008,1KG_AFR_AF,ATP6V1B1
438531,2:71163661:G>T,NM_001692.3:c.118+459G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.029,\N,\N,ATP6V1B1
438532,2:71163666:C>T,NM_001692.3:c.118+464C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.369,\N,\N,ATP6V1B1
438533,2:71163674:C>T,NM_001692.3:c.118+472C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.795,0.002,1KG_EUR_AF,ATP6V1B1
438534,2:71163675:G>A,NM_001692.3:c.118+473G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.882,0.0045,1KG_AFR_AF,ATP6V1B1
438535,2:71163687:G>A,NM_001692.3:c.118+485G>A,\N,\N,1/13,Benign,\N,intron_variant,4.944,0.2708,1KG_AFR_AF,ATP6V1B1
438536,2:71163692:A>C,NM_001692.3:c.118+490A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.076,0.0015,1KG_AFR_AF,ATP6V1B1
438537,2:71163710:G>A,NM_001692.3:c.118+508G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.752,0.0015,1KG_AFR_AF,ATP6V1B1
438538,2:71163728:C>T,NM_001692.3:c.118+526C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,7.13,0.0023,1KG_AFR_AF,ATP6V1B1
438539,2:71163750:C>T,NM_001692.3:c.118+548C>T,\N,\N,1/13,Benign,\N,intron_variant,3.669,0.9713,1KG_AFR_AF,ATP6V1B1
438540,2:71163755:G>A,NM_001692.3:c.118+553G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.496,\N,\N,ATP6V1B1
438541,2:71163797:G>A,NM_001692.3:c.118+595G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,8.593,0.001,1KG_EUR_AF,ATP6V1B1
438542,2:71163801:G>T,NM_001692.3:c.118+599G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,8.419,\N,\N,ATP6V1B1
438543,2:71163821:GGT>G,NM_001692.3:c.118+631_118+632del,\N,\N,1/13,Unknown significance,\N,intron_variant,3.833,\N,\N,ATP6V1B1
438544,2:71163853:G>A,NM_001692.3:c.118+651G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.089,\N,\N,ATP6V1B1
438545,2:71163859:G>A,NM_001692.3:c.118+657G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,8.597,\N,\N,ATP6V1B1
438546,2:71163874:G>A,NM_001692.3:c.118+672G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.988,\N,\N,ATP6V1B1
438547,2:71163876:G>A,NM_001692.3:c.118+674G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.083,\N,\N,ATP6V1B1
438548,2:71163916:G>C,NM_001692.3:c.118+714G>C,\N,\N,1/13,Benign,\N,intron_variant,1.012,0.005,1KG_EUR_AF,ATP6V1B1
438549,2:71163935:A>G,NM_001692.3:c.118+733A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.952,\N,\N,ATP6V1B1
438550,2:71163953:C>T,NM_001692.3:c.118+751C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.877,0.001,1KG_EAS_AF,ATP6V1B1
438551,2:71164067:A>G,NM_001692.3:c.118+865A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,14.09,\N,\N,ATP6V1B1
438552,2:71164096:G>A,NM_001692.3:c.118+894G>A,\N,\N,1/13,Benign,\N,intron_variant,8.028,0.0061,1KG_SAS_AF,ATP6V1B1
438553,2:71164109:T>C,NM_001692.3:c.118+907T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,9.658,\N,\N,ATP6V1B1
438554,2:71164112:C>T,NM_001692.3:c.118+910C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,13.47,\N,\N,ATP6V1B1
438555,2:71164163:T>C,NM_001692.3:c.118+961T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,5.532,0.0023,1KG_AFR_AF,ATP6V1B1
438556,2:71164181:A>G,NM_001692.3:c.118+979A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.231,0.0031,1KG_SAS_AF,ATP6V1B1
438557,2:71164202:A>AAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAG,NM_001692.3:c.118+1063_118+1112dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438558,2:71164202:A>G,NM_001692.3:c.118+1000A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,4.509,\N,\N,ATP6V1B1
438559,2:71164252:G>A,NM_001692.3:c.118+1050G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.913,\N,\N,ATP6V1B1
438560,2:71164297:A>G,NM_001692.3:c.118+1095A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.028,\N,\N,ATP6V1B1
438561,2:71164302:G>A,NM_001692.3:c.118+1100G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.512,0.003,1KG_EUR_AF,ATP6V1B1
438562,2:71164324:A>G,NM_001692.3:c.118+1122A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.388,0.003,1KG_AFR_AF,ATP6V1B1
438563,2:71164363:C>T,NM_001692.3:c.118+1161C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.195,0.001,1KG_EUR_AF,ATP6V1B1
438564,2:71164399:G>A,NM_001692.3:c.118+1197G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.394,\N,\N,ATP6V1B1
438565,2:71164430:T>C,NM_001692.3:c.118+1228T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,3.12,0.001,1KG_EAS_AF,ATP6V1B1
438566,2:71164454:G>T,NM_001692.3:c.118+1252G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.362,\N,\N,ATP6V1B1
438567,2:71164458:C>T,NM_001692.3:c.118+1256C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.098,0.001,1KG_EAS_AF,ATP6V1B1
438568,2:71164464:C>T,NM_001692.3:c.118+1262C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.993,0.001,1KG_EAS_AF,ATP6V1B1
438569,2:71164556:G>A,NM_001692.3:c.118+1354G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,13.25,0.0008,1KG_AFR_AF,ATP6V1B1
438570,2:71164595:G>A,NM_001692.3:c.118+1393G>A,\N,\N,1/13,Benign,\N,intron_variant,8.351,0.3271,1KG_AMR_AF,ATP6V1B1
438571,2:71164607:T>TG,NM_001692.3:c.118+1407dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438572,2:71164613:TC>T,NM_001692.3:c.118+1412del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438573,2:71164614:C>G,NM_001692.3:c.118+1412C>G,\N,\N,1/13,Benign,\N,intron_variant,0.437,0.7444,1KG_SAS_AF,ATP6V1B1
438574,2:71164624:T>C,NM_001692.3:c.118+1422T>C,\N,\N,1/13,Benign,\N,intron_variant,0.708,0.0068,1KG_AFR_AF,ATP6V1B1
438575,2:71164634:G>A,NM_001692.3:c.118+1432G>A,\N,\N,1/13,Benign,\N,intron_variant,5.929,0.3876,1KG_AMR_AF,ATP6V1B1
438576,2:71164687:C>T,NM_001692.3:c.118+1485C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.176,\N,\N,ATP6V1B1
438577,2:71164769:C>T,NM_001692.3:c.118+1567C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.293,0.001,1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
438578,2:71164783:C>A,NM_001692.3:c.118+1581C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,7.054,\N,\N,ATP6V1B1
438579,2:71164784:G>A,NM_001692.3:c.118+1582G>A,\N,\N,1/13,Benign,\N,intron_variant,1.513,0.0051,1KG_SAS_AF,ATP6V1B1
438580,2:71164806:C>T,NM_001692.3:c.118+1604C>T,\N,\N,1/13,Benign,\N,intron_variant,0.396,0.005,1KG_EAS_AF,ATP6V1B1
438581,2:71164824:G>A,NM_001692.3:c.118+1622G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.268,0.001,1KG_SAS_AF,ATP6V1B1
438582,2:71164833:G>A,NM_001692.3:c.118+1631G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.476,0.001,1KG_SAS_AF,ATP6V1B1
438583,2:71164875:AAGTGCCCC>A,NM_001692.3:c.118+1674_118+1681del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438584,2:71164877:G>T,NM_001692.3:c.118+1675G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.554,0.0008,1KG_AFR_AF,ATP6V1B1
438585,2:71164880:C>T,NM_001692.3:c.118+1678C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.369,0.0038,1KG_AFR_AF,ATP6V1B1
438586,2:71164893:A>G,NM_001692.3:c.118+1691A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.336,0.004,1KG_EAS_AF,ATP6V1B1
438587,2:71164933:C>T,NM_001692.3:c.118+1731C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,9.864,0.0023,1KG_AFR_AF,ATP6V1B1
438588,2:71164938:G>A,NM_001692.3:c.118+1736G>A,\N,\N,1/13,Benign,\N,intron_variant,7.286,0.0089,1KG_EUR_AF,ATP6V1B1
438589,2:71164943:G>T,NM_001692.3:c.118+1741G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.914,0.0029,1KG_AMR_AF,ATP6V1B1
438590,2:71164984:ACCCAGC>A,NM_001692.3:c.118+1786_118+1791del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438591,2:71164988:A>C,NM_001692.3:c.118+1786A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,3.232,\N,\N,ATP6V1B1
438592,2:71165057:C>T,NM_001692.3:c.118+1855C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.693,0.0014,1KG_AMR_AF,ATP6V1B1
438593,2:71165060:C>T,NM_001692.3:c.118+1858C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.498,0.0014,1KG_AMR_AF,ATP6V1B1
438594,2:71165063:C>G,NM_001692.3:c.118+1861C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.809,0.0008,1KG_AFR_AF,ATP6V1B1
438595,2:71165127:A>G,NM_001692.3:c.118+1925A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.172,0.001,1KG_SAS_AF,ATP6V1B1
438596,2:71165156:A>G,NM_001692.3:c.118+1954A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,9.235,0.001,1KG_EAS_AF,ATP6V1B1
438597,2:71165157:A>G,NM_001692.3:c.118+1955A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,6.811,0.001,1KG_SAS_AF,ATP6V1B1
438598,2:71165160:G>A,NM_001692.3:c.118+1958G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,10.3,\N,\N,ATP6V1B1
438599,2:71165176:C>G,NM_001692.3:c.118+1974C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,8.038,0.003,1KG_AFR_AF,ATP6V1B1
438600,2:71165198:C>T,NM_001692.3:c.118+1996C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.473,\N,\N,ATP6V1B1
438601,2:71165202:G>A,NM_001692.3:c.118+2000G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.404,0.0008,1KG_AFR_AF,ATP6V1B1
438602,2:71165223:C>G,NM_001692.3:c.118+2021C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,2.208,\N,\N,ATP6V1B1
438603,2:71165237:G>A,NM_001692.3:c.118+2035G>A,\N,\N,1/13,Benign,\N,intron_variant,3.398,0.0418,1KG_AMR_AF,ATP6V1B1
438604,2:71165315:C>A,NM_001692.3:c.118+2113C>A,\N,\N,1/13,Benign,\N,intron_variant,7.124,0.0151,1KG_AFR_AF,ATP6V1B1
438605,2:71165324:CAG>C,NM_001692.3:c.118+2123_118+2124del,\N,\N,1/13,Benign,\N,intron_variant,9.572,0.0378,1KG_EUR_AF,ATP6V1B1
438606,2:71165325:A>G,NM_001692.3:c.118+2123A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.294,0.0029,1KG_AMR_AF,ATP6V1B1
438607,2:71165338:C>T,NM_001692.3:c.118+2136C>T,\N,\N,1/13,Benign,\N,intron_variant,2.904,0.0058,1KG_AMR_AF,ATP6V1B1
438608,2:71165347:G>A,NM_001692.3:c.118+2145G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.158,\N,\N,ATP6V1B1
438609,2:71165355:C>T,NM_001692.3:c.118+2153C>T,\N,\N,1/13,Benign,\N,intron_variant,0.037,0.0417,1KG_EAS_AF,ATP6V1B1
438610,2:71165363:C>T,NM_001692.3:c.118+2161C>T,\N,\N,1/13,Benign,\N,intron_variant,8.135,0.0388,1KG_EUR_AF,ATP6V1B1
438611,2:71165387:A>G,NM_001692.3:c.118+2185A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.554,\N,\N,ATP6V1B1
438612,2:71165418:G>A,NM_001692.3:c.118+2216G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.247,0.002,1KG_EUR_AF,ATP6V1B1
438613,2:71165424:C>T,NM_001692.3:c.118+2222C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.472,\N,\N,ATP6V1B1
438614,2:71165426:C>A,NM_001692.3:c.118+2224C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.331,0.0008,1KG_AFR_AF,ATP6V1B1
438615,2:71165471:G>A,NM_001692.3:c.118+2269G>A,\N,\N,1/13,Benign,\N,intron_variant,3.132,0.0058,1KG_AMR_AF,ATP6V1B1
438616,2:71165484:C>T,NM_001692.3:c.118+2282C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.916,0.001,1KG_EAS_AF,ATP6V1B1
438617,2:71165519:C>A,NM_001692.3:c.118+2317C>A,\N,\N,1/13,Benign,\N,intron_variant,8.326,0.0164,1KG_SAS_AF,ATP6V1B1
438618,2:71165550:C>G,NM_001692.3:c.118+2348C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.96,\N,\N,ATP6V1B1
438619,2:71165602:C>T,NM_001692.3:c.118+2400C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.598,\N,\N,ATP6V1B1
438620,2:71165612:C>T,NM_001692.3:c.118+2410C>T,\N,\N,1/13,Benign,\N,intron_variant,0.133,0.0174,1KG_SAS_AF,ATP6V1B1
438621,2:71165622:C>T,NM_001692.3:c.118+2420C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.741,\N,\N,ATP6V1B1
438622,2:71165622:CG>C,NM_001692.3:c.118+2422del,\N,\N,1/13,Benign,\N,intron_variant,3.805,0.0174,1KG_AFR_AF,ATP6V1B1
438623,2:71165623:G>A,NM_001692.3:c.118+2421G>A,\N,\N,1/13,Benign,\N,intron_variant,3.071,0.0159,1KG_EAS_AF,ATP6V1B1
438624,2:71165648:G>T,NM_001692.3:c.118+2446G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.54,\N,\N,ATP6V1B1
438625,2:71165650:C>T,NM_001692.3:c.118+2448C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.979,0.001,1KG_SAS_AF,ATP6V1B1
438626,2:71165663:C>G,NM_001692.3:c.118+2461C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.099,0.001,1KG_EUR_AF,ATP6V1B1
438627,2:71165663:C>T,NM_001692.3:c.118+2461C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.169,\N,\N,ATP6V1B1
438628,2:71165664:G>A,NM_001692.3:c.118+2462G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.443,0.004,1KG_EAS_AF,ATP6V1B1
438629,2:71165668:G>C,NM_001692.3:c.118+2466G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.157,\N,\N,ATP6V1B1
438630,2:71165692:C>T,NM_001692.3:c.118+2490C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.811,0.0008,1KG_AFR_AF,ATP6V1B1
438631,2:71165702:G>C,NM_001692.3:c.118+2500G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.566,\N,\N,ATP6V1B1
438632,2:71165733:C>T,NM_001692.3:c.118+2531C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.497,0.001,1KG_SAS_AF,ATP6V1B1
438633,2:71165776:A>G,NM_001692.3:c.118+2574A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,5.631,0.001,1KG_EAS_AF,ATP6V1B1
438634,2:71165790:A>G,NM_001692.3:c.118+2588A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,2.034,\N,\N,ATP6V1B1
438635,2:71165816:C>T,NM_001692.3:c.118+2614C>T,\N,\N,1/13,Benign,\N,intron_variant,7.149,0.0437,1KG_EAS_AF,ATP6V1B1
438636,2:71165826:C>T,NM_001692.3:c.118+2624C>T,\N,\N,1/13,Benign,\N,intron_variant,6.893,0.0166,1KG_AFR_AF,ATP6V1B1
438637,2:71165828:G>A,NM_001692.3:c.118+2626G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.081,0.0008,1KG_AFR_AF,ATP6V1B1
438638,2:71165855:C>T,NM_001692.3:c.118+2653C>T,\N,\N,1/13,Benign,\N,intron_variant,3.328,0.0119,1KG_EAS_AF,ATP6V1B1
438639,2:71165867:C>T,NM_001692.3:c.118+2665C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.698,\N,\N,ATP6V1B1
438640,2:71165878:G>T,NM_001692.3:c.118+2676G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.225,\N,\N,ATP6V1B1
438641,2:71165906:G>T,NM_001692.3:c.118+2704G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.566,0.0014,1KG_AMR_AF,ATP6V1B1
438642,2:71165917:G>C,NM_001692.3:c.118+2715G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,4.905,0.004,1KG_EAS_AF,ATP6V1B1
438643,2:71165925:G>A,NM_001692.3:c.118+2723G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.753,0.001,1KG_SAS_AF,ATP6V1B1
438644,2:71165934:G>A,NM_001692.3:c.118+2732G>A,\N,\N,1/13,Benign,\N,intron_variant,6.637,0.0072,1KG_AMR_AF,ATP6V1B1
438645,2:71166022:G>A,NM_001692.3:c.118+2820G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.047,0.003,1KG_AFR_AF,ATP6V1B1
438646,2:71166037:C>T,NM_001692.3:c.118+2835C>T,\N,\N,1/13,Benign,\N,intron_variant,6.105,0.0053,1KG_AFR_AF,ATP6V1B1
438647,2:71166060:G>A,NM_001692.3:c.118+2858G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.703,\N,\N,ATP6V1B1
438648,2:71166079:G>A,NM_001692.3:c.118+2877G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.892,0.0015,1KG_AFR_AF,ATP6V1B1
438649,2:71166083:G>A,NM_001692.3:c.118+2881G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,9.549,\N,\N,ATP6V1B1
438650,2:71166117:C>G,NM_001692.3:c.118+2915C>G,\N,\N,1/13,Benign,\N,intron_variant,14.13,0.0234,1KG_AFR_AF,ATP6V1B1
438651,2:71166146:C>T,NM_001692.3:c.118+2944C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,19.88,0.001,1KG_EAS_AF,ATP6V1B1
438652,2:71166212:G>C,NM_001692.3:c.118+3010G>C,\N,\N,1/13,Benign,\N,intron_variant,14.15,0.0991,1KG_AFR_AF,ATP6V1B1
438653,2:71166253:G>T,NM_001692.3:c.118+3051G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.27,\N,\N,ATP6V1B1
438654,2:71166267:C>T,NM_001692.3:c.118+3065C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,20.8,\N,\N,ATP6V1B1
438655,2:71166269:C>A,NM_001692.3:c.118+3067C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,18.81,0.002,1KG_EAS_AF,ATP6V1B1
438656,2:71166300:T>C,NM_001692.3:c.118+3098T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,15.09,\N,\N,ATP6V1B1
438657,2:71166301:G>A,NM_001692.3:c.118+3099G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,16.81,\N,\N,ATP6V1B1
438658,2:71166332:C>T,NM_001692.3:c.118+3130C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,19.42,\N,\N,ATP6V1B1
438659,2:71166360:G>A,NM_001692.3:c.118+3158G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,17.45,0.001,1KG_EUR_AF,ATP6V1B1
438660,2:71166362:G>A,NM_001692.3:c.118+3160G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,17.04,0.001,1KG_EUR_AF,ATP6V1B1
438661,2:71166386:C>A,NM_001692.3:c.118+3184C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,9.014,\N,\N,ATP6V1B1
438662,2:71166424:G>C,NM_001692.3:c.118+3222G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,15.04,0.0015,1KG_AFR_AF,ATP6V1B1
438663,2:71166432:G>A,NM_001692.3:c.118+3230G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,12.24,0.0031,1KG_SAS_AF,ATP6V1B1
438664,2:71166435:G>A,NM_001692.3:c.118+3233G>A,\N,\N,1/13,Benign,\N,intron_variant,13.15,0.0099,1KG_EAS_AF,ATP6V1B1
438665,2:71166487:G>C,NM_001692.3:c.118+3285G>C,\N,\N,1/13,Benign,\N,intron_variant,4.034,0.0072,1KG_SAS_AF,ATP6V1B1
438666,2:71166492:T>C,NM_001692.3:c.118+3290T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,3.636,0.0008,1KG_AFR_AF,ATP6V1B1
438667,2:71166518:C>T,NM_001692.3:c.118+3316C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,9.178,\N,\N,ATP6V1B1
438668,2:71166560:C>T,NM_001692.3:c.118+3358C>T,\N,\N,1/13,Benign,\N,intron_variant,7.868,0.0174,1KG_AFR_AF,ATP6V1B1
438669,2:71166597:G>C,NM_001692.3:c.118+3395G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.445,0.001,1KG_EAS_AF,ATP6V1B1
438670,2:71166598:C>G,NM_001692.3:c.118+3396C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.829,\N,\N,ATP6V1B1
438671,2:71166622:G>A,NM_001692.3:c.118+3420G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.657,\N,\N,ATP6V1B1
438672,2:71166701:G>A,NM_001692.3:c.118+3499G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.695,0.001,1KG_SAS_AF,ATP6V1B1
438673,2:71166706:T>C,NM_001692.3:c.118+3504T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.857,0.001,1KG_EUR_AF,ATP6V1B1
438674,2:71166710:C>T,NM_001692.3:c.118+3508C>T,\N,\N,1/13,Benign,\N,intron_variant,3.832,0.3343,1KG_AMR_AF,ATP6V1B1
438675,2:71166711:A>C,NM_001692.3:c.118+3509A>C,\N,\N,1/13,Benign,\N,intron_variant,2.242,0.0174,1KG_SAS_AF,ATP6V1B1
438676,2:71166717:A>C,NM_001692.3:c.118+3515A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,3.455,0.0008,1KG_AFR_AF,ATP6V1B1
438677,2:71166730:CA>TG,NM_001692.3:c.118+3528_118+3529inv,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438678,2:71166731:A>G,NM_001692.3:c.118+3529A>G,\N,\N,1/13,Benign,\N,intron_variant,5.436,0.6203,1KG_AFR_AF,ATP6V1B1
438679,2:71166758:C>T,NM_001692.3:c.118+3556C>T,\N,\N,1/13,Benign,\N,intron_variant,5.361,0.2192,1KG_EAS_AF,ATP6V1B1
438680,2:71166794:G>A,NM_001692.3:c.118+3592G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.727,0.0023,1KG_AFR_AF,ATP6V1B1
438681,2:71166800:A>C,NM_001692.3:c.118+3598A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.561,\N,\N,ATP6V1B1
438682,2:71166819:G>GGAGAGGC,NM_001692.3:c.118+3618_118+3624dup,\N,\N,1/13,Unknown significance,\N,intron_variant,2.868,0.0038,1KG_AFR_AF,ATP6V1B1
438683,2:71166840:A>G,NM_001692.3:c.118+3638A>G,\N,\N,1/13,Benign,\N,intron_variant,4.162,0.6746,1KG_EAS_AF,ATP6V1B1
438684,2:71166849:G>C,NM_001692.3:c.118+3647G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,10.66,\N,\N,ATP6V1B1
438685,2:71166867:G>A,NM_001692.3:c.118+3665G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.65,\N,\N,ATP6V1B1
438686,2:71166884:C>T,NM_001692.3:c.118+3682C>T,\N,\N,1/13,Benign,\N,intron_variant,2.944,0.0393,1KG_AFR_AF,ATP6V1B1
438687,2:71166885:G>A,NM_001692.3:c.118+3683G>A,\N,\N,1/13,Benign,\N,intron_variant,4.072,0.0991,1KG_AFR_AF,ATP6V1B1
438688,2:71166901:G>GA,NM_001692.3:c.118+3700dup,\N,\N,1/13,Benign,\N,intron_variant,3.428,0.6736,1KG_EAS_AF,ATP6V1B1
438689,2:71166913:T>A,NM_001692.3:c.118+3711T>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.949,\N,\N,ATP6V1B1
438690,2:71166965:A>G,NM_001692.3:c.118+3763A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.347,\N,\N,ATP6V1B1
438691,2:71167008:T>A,NM_001692.3:c.119-3780T>A,\N,\N,1/13,Benign,\N,intron_variant,6.243,0.6736,1KG_EAS_AF,ATP6V1B1
438692,2:71167010:G>T,NM_001692.3:c.119-3778G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.151,0.001,1KG_EAS_AF,ATP6V1B1
438693,2:71167025:G>A,NM_001692.3:c.119-3763G>A,\N,\N,1/13,Benign,\N,intron_variant,4.236,0.6736,1KG_EAS_AF,ATP6V1B1
438694,2:71167039:C>A,NM_001692.3:c.119-3749C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.561,\N,\N,ATP6V1B1
438695,2:71167060:C>T,NM_001692.3:c.119-3728C>T,\N,\N,1/13,Benign,\N,intron_variant,2.094,0.006,1KG_EUR_AF,ATP6V1B1
438696,2:71167101:C>A,NM_001692.3:c.119-3687C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,8.009,0.0045,1KG_AFR_AF,ATP6V1B1
438697,2:71167131:G>A,NM_001692.3:c.119-3657G>A,\N,\N,1/13,Benign,\N,intron_variant,3.041,0.2723,1KG_AFR_AF,ATP6V1B1
438698,2:71167138:C>T,NM_001692.3:c.119-3650C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.297,\N,\N,ATP6V1B1
438699,2:71167141:G>T,NM_001692.3:c.119-3647G>T,\N,\N,1/13,Benign,\N,intron_variant,2.286,0.3429,1KG_AMR_AF,ATP6V1B1
438700,2:71167143:G>A,NM_001692.3:c.119-3645G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.75,\N,\N,ATP6V1B1
438701,2:71167151:C>T,NM_001692.3:c.119-3637C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.176,0.003,1KG_EAS_AF,ATP6V1B1
438702,2:71167152:G>A,NM_001692.3:c.119-3636G>A,\N,\N,1/13,Benign,\N,intron_variant,6.682,0.036,1KG_AMR_AF,ATP6V1B1
438703,2:71167202:C>A,NM_001692.3:c.119-3586C>A,\N,\N,1/13,Benign,\N,intron_variant,4.726,0.1452,1KG_AFR_AF,ATP6V1B1
438704,2:71167230:C>T,NM_001692.3:c.119-3558C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.086,0.001,1KG_EAS_AF,ATP6V1B1
438705,2:71167275:C>G,NM_001692.3:c.119-3513C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.575,\N,\N,ATP6V1B1
438706,2:71167284:G>A,NM_001692.3:c.119-3504G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.706,\N,\N,ATP6V1B1
438707,2:71167287:G>A,NM_001692.3:c.119-3501G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.345,0.0008,1KG_AFR_AF,ATP6V1B1
438708,2:71167311:T>TG,NM_001692.3:c.119-3475dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438709,2:71167504:A>G,NM_001692.3:c.119-3284A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,2.148,0.0008,1KG_AFR_AF,ATP6V1B1
438710,2:71167534:G>A,NM_001692.3:c.119-3254G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,10.67,0.0008,1KG_AFR_AF,ATP6V1B1
438711,2:71167549:G>T,NM_001692.3:c.119-3239G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,7.006,0.0014,1KG_AMR_AF,ATP6V1B1
438712,2:71167560:A>G,NM_001692.3:c.119-3228A>G,\N,\N,1/13,Benign,\N,intron_variant,0.707,0.0805,1KG_EUR_AF,ATP6V1B1
438713,2:71167576:C>T,NM_001692.3:c.119-3212C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.003,0.0015,1KG_AFR_AF,ATP6V1B1
438714,2:71167577:G>A,NM_001692.3:c.119-3211G>A,\N,\N,1/13,Benign,\N,intron_variant,0.441,0.5278,1KG_EAS_AF,ATP6V1B1
438715,2:71167578:G>A,NM_001692.3:c.119-3210G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.69,0.002,1KG_SAS_AF,ATP6V1B1
438716,2:71167611:C>T,NM_001692.3:c.119-3177C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.487,\N,\N,ATP6V1B1
438717,2:71167653:A>T,NM_001692.3:c.119-3135A>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.428,0.0045,1KG_AFR_AF,ATP6V1B1
438718,2:71167656:C>G,NM_001692.3:c.119-3132C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.407,0.0008,1KG_AFR_AF,ATP6V1B1
438719,2:71167686:G>GA,NM_001692.3:c.119-3102_119-3101insA,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438720,2:71167694:T>TG,NM_001692.3:c.119-3093dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438721,2:71167731:C>G,NM_001692.3:c.119-3057C>G,\N,\N,1/13,Benign,\N,intron_variant,3.483,0.0061,1KG_SAS_AF,ATP6V1B1
438722,2:71167758:C>T,NM_001692.3:c.119-3030C>T,\N,\N,1/13,Benign,\N,intron_variant,2.777,0.005,1KG_EAS_AF,ATP6V1B1
438723,2:71167759:G>A,NM_001692.3:c.119-3029G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.022,\N,\N,ATP6V1B1
438724,2:71167787:C>T,NM_001692.3:c.119-3001C>T,\N,\N,1/13,Benign,\N,intron_variant,2.736,0.0061,1KG_SAS_AF,ATP6V1B1
438725,2:71167799:T>C,NM_001692.3:c.119-2989T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.907,\N,\N,ATP6V1B1
438726,2:71167820:T>A,NM_001692.3:c.119-2968T>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.781,0.0014,1KG_AMR_AF,ATP6V1B1
438727,2:71167835:G>A,NM_001692.3:c.119-2953G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.422,0.003,1KG_EUR_AF,ATP6V1B1
438728,2:71167855:G>A,NM_001692.3:c.119-2933G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.183,0.0015,1KG_AFR_AF,ATP6V1B1
438729,2:71167916:G>T,NM_001692.3:c.119-2872G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.487,0.0008,1KG_AFR_AF,ATP6V1B1
438730,2:71167923:G>C,NM_001692.3:c.119-2865G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.038,0.0008,1KG_AFR_AF,ATP6V1B1
438731,2:71167941:G>A,NM_001692.3:c.119-2847G>A,\N,\N,1/13,Benign,\N,intron_variant,3.206,0.0061,1KG_AFR_AF,ATP6V1B1
438732,2:71167943:G>A,NM_001692.3:c.119-2845G>A,\N,\N,1/13,Benign,\N,intron_variant,1.652,0.0106,1KG_AFR_AF,ATP6V1B1
438733,2:71167958:G>A,NM_001692.3:c.119-2830G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.87,\N,\N,ATP6V1B1
438734,2:71167978:C>T,NM_001692.3:c.119-2810C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.446,0.0014,1KG_AMR_AF,ATP6V1B1
438735,2:71168002:G>A,NM_001692.3:c.119-2786G>A,\N,\N,1/13,Benign,\N,intron_variant,2.229,0.006,1KG_EUR_AF,ATP6V1B1
438736,2:71168017:TTTTTTTC>T,NM_001692.3:c.119-2758_119-2752del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438737,2:71168024:CT>C,NM_001692.3:c.119-2758del,\N,\N,1/13,Unknown significance,\N,intron_variant,2.265,\N,\N,ATP6V1B1
438738,2:71168031:C>T,NM_001692.3:c.119-2757C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.039,\N,\N,ATP6V1B1
438739,2:71168031:CTTTTTCT>C,NM_001692.3:c.119-2752_119-2746del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438740,2:71168031:CTTTTTCTT>C,NM_001692.3:c.119-2753_119-2746del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438741,2:71168037:C>CTTTTTCTTT,NM_001692.3:c.119-2745_119-2737dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438742,2:71168037:C>T,NM_001692.3:c.119-2751C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.046,\N,\N,ATP6V1B1
438743,2:71168037:CTTTTTCTTT>C,NM_001692.3:c.119-2745_119-2737del,\N,\N,1/13,Benign,\N,intron_variant,0.608,1,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
438744,2:71168043:C>T,NM_001692.3:c.119-2745C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.906,\N,\N,ATP6V1B1
438745,2:71168047:T>C,NM_001692.3:c.119-2741T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.096,\N,\N,ATP6V1B1
438746,2:71168069:G>A,NM_001692.3:c.119-2719G>A,\N,\N,1/13,Benign,\N,intron_variant,3.351,0.0716,1KG_EUR_AF,ATP6V1B1
438747,2:71168098:C>T,NM_001692.3:c.119-2690C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.726,0.001,1KG_EAS_AF,ATP6V1B1
438748,2:71168101:T>C,NM_001692.3:c.119-2687T>C,\N,\N,1/13,Benign,\N,intron_variant,0.086,0.5278,1KG_EAS_AF,ATP6V1B1
438749,2:71168124:G>A,NM_001692.3:c.119-2664G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.205,\N,\N,ATP6V1B1
438750,2:71168161:C>T,NM_001692.3:c.119-2627C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.742,0.001,1KG_EUR_AF,ATP6V1B1
438751,2:71168162:C>T,NM_001692.3:c.119-2626C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.454,0.0014,1KG_AMR_AF,ATP6V1B1
438752,2:71168177:G>A,NM_001692.3:c.119-2611G>A,\N,\N,1/13,Benign,\N,intron_variant,2.306,0.0401,1KG_AFR_AF,ATP6V1B1
438753,2:71168187:C>T,NM_001692.3:c.119-2601C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.975,0.001,1KG_EUR_AF,ATP6V1B1
438754,2:71168193:C>T,NM_001692.3:c.119-2595C>T,\N,\N,1/13,Benign,\N,intron_variant,0.386,0.0991,1KG_AFR_AF,ATP6V1B1
438755,2:71168194:G>A,NM_001692.3:c.119-2594G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.489,\N,\N,ATP6V1B1
438756,2:71168236:C>CGA,NM_001692.3:c.119-2550_119-2549dup,\N,\N,1/13,Benign,\N,intron_variant,2.515,0.0439,1KG_AFR_AF,ATP6V1B1
438757,2:71168237:G>A,NM_001692.3:c.119-2551G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.919,0.0014,1KG_AMR_AF,ATP6V1B1
438758,2:71168248:A>G,NM_001692.3:c.119-2540A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.395,\N,\N,ATP6V1B1
438759,2:71168265:C>A,NM_001692.3:c.119-2523C>A,\N,\N,1/13,Benign,\N,intron_variant,4.607,0.0106,1KG_AFR_AF,ATP6V1B1
438760,2:71168268:G>A,NM_001692.3:c.119-2520G>A,\N,\N,1/13,Benign,\N,intron_variant,0.058,0.146,1KG_AFR_AF,ATP6V1B1
438761,2:71168279:C>A,NM_001692.3:c.119-2509C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.802,0.001,1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
438762,2:71168326:G>A,NM_001692.3:c.119-2462G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.601,\N,\N,ATP6V1B1
438763,2:71168330:G>A,NM_001692.3:c.119-2458G>A,\N,\N,1/13,Benign,\N,intron_variant,1.671,0.0053,1KG_AFR_AF,ATP6V1B1
438764,2:71168357:T>C,NM_001692.3:c.119-2431T>C,\N,\N,1/13,Benign,\N,intron_variant,0.37,0.1006,1KG_AFR_AF,ATP6V1B1
438765,2:71168376:C>T,NM_001692.3:c.119-2412C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.846,\N,\N,ATP6V1B1
438766,2:71168411:G>A,NM_001692.3:c.119-2377G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.13,\N,\N,ATP6V1B1
438767,2:71168453:T>TA,NM_001692.3:c.119-2334dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438768,2:71168468:G>A,NM_001692.3:c.119-2320G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.37,\N,\N,ATP6V1B1
438769,2:71168485:C>T,NM_001692.3:c.119-2303C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.193,0.001,1KG_EAS_AF,ATP6V1B1
438770,2:71168502:T>C,NM_001692.3:c.119-2286T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,1.051,0.001,1KG_EAS_AF,ATP6V1B1
438771,2:71168509:C>T,NM_001692.3:c.119-2279C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.733,0.0031,1KG_SAS_AF,ATP6V1B1
438772,2:71168525:G>A,NM_001692.3:c.119-2263G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.721,\N,\N,ATP6V1B1
438773,2:71168539:C>G,NM_001692.3:c.119-2249C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.901,\N,\N,ATP6V1B1
438774,2:71168579:AC>A,NM_001692.3:c.119-2205del,\N,\N,1/13,Unknown significance,\N,intron_variant,0.67,\N,\N,ATP6V1B1
438775,2:71168580:C>G,NM_001692.3:c.119-2208C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.546,\N,\N,ATP6V1B1
438776,2:71168590:C>A,NM_001692.3:c.119-2198C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.226,\N,\N,ATP6V1B1
438777,2:71168602:C>T,NM_001692.3:c.119-2186C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.628,0.0008,1KG_AFR_AF,ATP6V1B1
438778,2:71168604:C>T,NM_001692.3:c.119-2184C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.692,\N,\N,ATP6V1B1
438779,2:71168608:C>T,NM_001692.3:c.119-2180C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.321,0.001,1KG_SAS_AF,ATP6V1B1
438780,2:71168610:G>T,NM_001692.3:c.119-2178G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.975,0.0008,1KG_AFR_AF,ATP6V1B1
438781,2:71168627:C>G,NM_001692.3:c.119-2161C>G,\N,\N,1/13,Benign,\N,intron_variant,1.319,0.0303,1KG_AFR_AF,ATP6V1B1
438782,2:71168641:A>G,NM_001692.3:c.119-2147A>G,\N,\N,1/13,Benign,\N,intron_variant,1.502,0.0113,1KG_AFR_AF,ATP6V1B1
438783,2:71168658:C>T,NM_001692.3:c.119-2130C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.637,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
438784,2:71168669:G>A,NM_001692.3:c.119-2119G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.792,0.001,1KG_EUR_AF,ATP6V1B1
438785,2:71168738:CCTT>C,NM_001692.3:c.119-2046_119-2044del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438786,2:71168756:G>A,NM_001692.3:c.119-2032G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.117,\N,\N,ATP6V1B1
438787,2:71168756:G>C,NM_001692.3:c.119-2032G>C,\N,\N,1/13,Benign,\N,intron_variant,0.581,0.0991,1KG_AFR_AF,ATP6V1B1
438788,2:71168778:A>G,NM_001692.3:c.119-2010A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.138,\N,\N,ATP6V1B1
438789,2:71168779:C>CT,NM_001692.3:c.119-2006dup,\N,\N,1/13,Unknown significance,\N,intron_variant,1.412,\N,\N,ATP6V1B1
438790,2:71168783:C>T,NM_001692.3:c.119-2005C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.808,0.001,1KG_EAS_AF,ATP6V1B1
438791,2:71168794:C>T,NM_001692.3:c.119-1994C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.156,0.0008,1KG_AFR_AF,ATP6V1B1
438792,2:71168812:T>A,NM_001692.3:c.119-1976T>A,\N,\N,1/13,Benign,\N,intron_variant,2.867,0.0439,1KG_AFR_AF,ATP6V1B1
438793,2:71168859:G>A,NM_001692.3:c.119-1929G>A,\N,\N,1/13,Benign,\N,intron_variant,4.042,0.0053,1KG_AFR_AF,ATP6V1B1
438794,2:71168864:C>A,NM_001692.3:c.119-1924C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.841,\N,\N,ATP6V1B1
438795,2:71168866:G>A,NM_001692.3:c.119-1922G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.289,0.002,1KG_SAS_AF,ATP6V1B1
438796,2:71168881:G>A,NM_001692.3:c.119-1907G>A,\N,\N,1/13,Benign,\N,intron_variant,2.871,0.6677,1KG_EAS_AF,ATP6V1B1
438797,2:71168886:G>A,NM_001692.3:c.119-1902G>A,\N,\N,1/13,Benign,\N,intron_variant,1.325,0.1094,1KG_SAS_AF,ATP6V1B1
438798,2:71168903:G>A,NM_001692.3:c.119-1885G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.283,0.001,1KG_EUR_AF,ATP6V1B1
438799,2:71168913:C>T,NM_001692.3:c.119-1875C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,0.443,\N,\N,ATP6V1B1
438800,2:71168914:G>A,NM_001692.3:c.119-1874G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.848,0.001,1KG_EUR_AF,ATP6V1B1
438801,2:71168932:A>C,NM_001692.3:c.119-1856A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.617,0.001,1KG_EAS_AF,ATP6V1B1
438802,2:71168964:A>C,NM_001692.3:c.119-1824A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.077,0.0029,1KG_AMR_AF,ATP6V1B1
438803,2:71168978:C>T,NM_001692.3:c.119-1810C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,5.397,0.0014,1KG_AMR_AF,ATP6V1B1
438804,2:71169038:G>A,NM_001692.3:c.119-1750G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.952,\N,\N,ATP6V1B1
438805,2:71169059:G>A,NM_001692.3:c.119-1729G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.217,0.001,1KG_EUR_AF,ATP6V1B1
438806,2:71169078:G>A,NM_001692.3:c.119-1710G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.981,0.0015,1KG_AFR_AF,ATP6V1B1
438807,2:71169083:TG>T,NM_001692.3:c.119-1701del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438808,2:71169115:C>G,NM_001692.3:c.119-1673C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,2.154,0.001,1KG_EAS_AF,ATP6V1B1
438809,2:71169115:C>T,NM_001692.3:c.119-1673C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.743,\N,\N,ATP6V1B1
438810,2:71169131:C>G,NM_001692.3:c.119-1657C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,4.139,0.003,1KG_AFR_AF,ATP6V1B1
438811,2:71169147:A>T,NM_001692.3:c.119-1641A>T,\N,\N,1/13,Benign,\N,intron_variant,1.722,0.0278,1KG_EUR_AF,ATP6V1B1
438812,2:71169154:G>A,NM_001692.3:c.119-1634G>A,\N,\N,1/13,Benign,\N,intron_variant,3.148,0.0991,1KG_AFR_AF,ATP6V1B1
438813,2:71169184:C>A,NM_001692.3:c.119-1604C>A,\N,\N,1/13,Benign,\N,intron_variant,4.768,0.0363,1KG_AFR_AF,ATP6V1B1
438814,2:71169197:C>G,NM_001692.3:c.119-1591C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,0.663,\N,\N,ATP6V1B1
438815,2:71169239:T>C,NM_001692.3:c.119-1549T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.667,0.001,1KG_EAS_AF,ATP6V1B1
438816,2:71169243:C>T,NM_001692.3:c.119-1545C>T,\N,\N,1/13,Benign,\N,intron_variant,6.099,0.0133,1KG_SAS_AF,ATP6V1B1
438817,2:71169249:C>T,NM_001692.3:c.119-1539C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.442,\N,\N,ATP6V1B1
438818,2:71169280:C>T,NM_001692.3:c.119-1508C>T,\N,\N,1/13,Benign,\N,intron_variant,3.429,0.175,1KG_EUR_AF,ATP6V1B1
438819,2:71169293:G>A,NM_001692.3:c.119-1495G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,2.176,\N,\N,ATP6V1B1
438820,2:71169319:A>G,NM_001692.3:c.119-1469A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,1.497,0.002,1KG_SAS_AF,ATP6V1B1
438821,2:71169338:G>A,NM_001692.3:c.119-1450G>A,\N,\N,1/13,Benign,\N,intron_variant,1.905,0.0991,1KG_AFR_AF,ATP6V1B1
438822,2:71169352:G>A,NM_001692.3:c.119-1436G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.965,0.001,1KG_EAS_AF,ATP6V1B1
438823,2:71169378:C>T,NM_001692.3:c.119-1410C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.836,\N,\N,ATP6V1B1
438824,2:71169386:T>C,NM_001692.3:c.119-1402T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.457,0.0008,1KG_AFR_AF,ATP6V1B1
438825,2:71169415:T>G,NM_001692.3:c.119-1373T>G,\N,\N,1/13,Benign,\N,intron_variant,4.317,0.0053,1KG_AFR_AF,ATP6V1B1
438826,2:71169429:A>G,NM_001692.3:c.119-1359A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,2.543,0.002,1KG_EUR_AF,ATP6V1B1
438827,2:71169434:G>A,NM_001692.3:c.119-1354G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,0.209,0.003,1KG_EUR_AF,ATP6V1B1
438828,2:71169455:T>C,NM_001692.3:c.119-1333T>C,\N,\N,1/13,Benign,\N,intron_variant,1.57,0.0061,1KG_AFR_AF,ATP6V1B1
438829,2:71169472:C>T,NM_001692.3:c.119-1316C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,9.143,0.0015,1KG_AFR_AF,ATP6V1B1
438830,2:71169497:C>T,NM_001692.3:c.119-1291C>T,\N,\N,1/13,Benign,\N,intron_variant,8.354,0.005,1KG_EAS_AF,ATP6V1B1
438831,2:71169512:T>C,NM_001692.3:c.119-1276T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.26,\N,\N,ATP6V1B1
438832,2:71169534:C>T,NM_001692.3:c.119-1254C>T,\N,\N,1/13,Benign,\N,intron_variant,17.75,0.0053,1KG_AFR_AF,ATP6V1B1
438833,2:71169535:G>A,NM_001692.3:c.119-1253G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.223,0.001,1KG_SAS_AF,ATP6V1B1
438834,2:71169566:G>A,NR_110273.1:n.524-3C>T,\N,\N,2/2,Unknown significance,\N,splice_region_variant&intron_variant&non_coding_transcript_variant,0.979,0.001,1KG_SAS_AF,ATP6V1B1
438835,2:71169569:G>C,NR_110273.1:n.524-6C>G,\N,\N,2/2,Unknown significance,\N,splice_region_variant&intron_variant&non_coding_transcript_variant,0.337,0.0014,1KG_AMR_AF,ATP6V1B1
438836,2:71169591:AAAG>A,NM_001692.3:c.119-1190_119-1188del,\N,\N,1/13,Benign,\N,intron_variant,3.096,0.0533,1KG_AMR_AF,ATP6V1B1
438837,2:71169705:C>T,NM_001692.3:c.119-1083C>T,\N,\N,1/13,Benign,\N,intron_variant,1.877,0.8395,1KG_SAS_AF,ATP6V1B1
438838,2:71169711:C>A,NM_001692.3:c.119-1077C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.81,\N,\N,ATP6V1B1
438839,2:71169721:C>T,NM_001692.3:c.119-1067C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,4.667,\N,\N,ATP6V1B1
438840,2:71169761:C>T,NM_001692.3:c.119-1027C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.405,\N,\N,ATP6V1B1
438841,2:71169801:C>T,NM_001692.3:c.119-987C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.038,\N,\N,ATP6V1B1
438842,2:71169834:G>C,NM_001692.3:c.119-954G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.325,0.001,1KG_EUR_AF,ATP6V1B1
438843,2:71169854:T>C,NM_001692.3:c.119-934T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.898,0.001,1KG_EUR_AF,ATP6V1B1
438844,2:71169862:G>T,NM_001692.3:c.119-926G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,6.104,0.0015,1KG_AFR_AF,ATP6V1B1
438845,2:71169866:G>A,NM_001692.3:c.119-922G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,8.173,\N,\N,ATP6V1B1
438846,2:71169908:T>G,NM_001692.3:c.119-880T>G,\N,\N,1/13,Unknown significance,\N,intron_variant,4.349,\N,\N,ATP6V1B1
438847,2:71169914:A>G,NM_001692.3:c.119-874A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.612,\N,\N,ATP6V1B1
438848,2:71169978:G>C,NM_001692.3:c.119-810G>C,\N,\N,1/13,Benign,\N,intron_variant,0.839,0.1036,1KG_AFR_AF,ATP6V1B1
438849,2:71170012:C>T,NM_001692.3:c.119-776C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,7.531,0.004,1KG_EAS_AF,ATP6V1B1
438850,2:71170039:C>T,NM_001692.3:c.119-749C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.332,0.002,1KG_SAS_AF,ATP6V1B1
438851,2:71170053:C>T,NM_001692.3:c.119-735C>T,\N,\N,1/13,Benign,\N,intron_variant,1.285,0.0303,1KG_AFR_AF,ATP6V1B1
438852,2:71170066:C>T,NM_001692.3:c.119-722C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.161,\N,\N,ATP6V1B1
438853,2:71170074:A>G,NM_001692.3:c.119-714A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,3.068,0.002,1KG_EUR_AF,ATP6V1B1
438854,2:71170086:A>G,NM_001692.3:c.119-702A>G,\N,\N,1/13,Benign,\N,intron_variant,2.892,0.1498,1KG_AFR_AF,ATP6V1B1
438855,2:71170117:A>C,NM_001692.3:c.119-671A>C,\N,\N,1/13,Benign,\N,intron_variant,0.483,0.999,1KG_EAS_AF,ATP6V1B1
438856,2:71170123:G>A,NM_001692.3:c.119-665G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.938,0.0015,1KG_AFR_AF,ATP6V1B1
438857,2:71170132:AT>A,NM_001692.3:c.119-653del,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438858,2:71170139:A>T,NM_001692.3:c.119-649A>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.595,\N,\N,ATP6V1B1
438859,2:71170152:T>C,NM_001692.3:c.119-636T>C,\N,\N,1/13,Unknown significance,\N,intron_variant,3.275,0.0015,1KG_AFR_AF,ATP6V1B1
438860,2:71170166:C>A,NM_001692.3:c.119-622C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,6.434,0.0008,1KG_AFR_AF,ATP6V1B1
438861,2:71170239:G>A,NM_001692.3:c.119-549G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,10.27,\N,\N,ATP6V1B1
438862,2:71170245:A>C,NM_001692.3:c.119-543A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,2.931,\N,\N,ATP6V1B1
438863,2:71170270:C>A,NM_001692.3:c.119-518C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,4.988,0.0015,1KG_AFR_AF,ATP6V1B1
438864,2:71170273:C>T,NM_001692.3:c.119-515C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,1.741,0.0045,1KG_AFR_AF,ATP6V1B1
438865,2:71170293:C>T,NM_001692.3:c.119-495C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,2.293,0.002,1KG_EUR_AF,ATP6V1B1
438866,2:71170294:G>A,NM_001692.3:c.119-494G>A,\N,\N,1/13,Benign,\N,intron_variant,1.292,0.0427,1KG_EUR_AF,ATP6V1B1
438867,2:71170305:C>T,NM_001692.3:c.119-483C>T,\N,\N,1/13,Benign,\N,intron_variant,4.622,0.0437,1KG_EUR_AF,ATP6V1B1
438868,2:71170317:T>TAC,NM_001692.3:c.119-452_119-451dup,\N,\N,1/13,Benign,\N,intron_variant,0.989,0.0418,1KG_AMR_AF,ATP6V1B1
438869,2:71170317:TAC>T,NM_001692.3:c.119-452_119-451del,\N,\N,1/13,Unknown significance,\N,intron_variant,3.768,\N,\N,ATP6V1B1
438870,2:71170336:A>ACC,NM_001692.3:c.119-451_119-450insCC,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438871,2:71170337:C>CCT,NM_001692.3:c.119-451_119-450insCT,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438872,2:71170356:T>A,NM_001692.3:c.119-432T>A,\N,\N,1/13,Unknown significance,\N,intron_variant,11.85,0.0014,1KG_AMR_AF,ATP6V1B1
438873,2:71170397:C>T,NM_001692.3:c.119-391C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,12.58,0.001,1KG_SAS_AF,ATP6V1B1
438874,2:71170410:C>T,NM_001692.3:c.119-378C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,12.02,\N,\N,ATP6V1B1
438875,2:71170450:G>C,NM_001692.3:c.119-338G>C,\N,\N,1/13,Benign,\N,intron_variant,12.58,0.0106,1KG_AFR_AF,ATP6V1B1
438876,2:71170467:G>A,NM_001692.3:c.119-321G>A,\N,\N,1/13,Benign,\N,intron_variant,15.47,0.0053,1KG_AFR_AF,ATP6V1B1
438877,2:71170471:T>TG,NM_001692.3:c.119-312dup,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438878,2:71170486:G>A,NM_001692.3:c.119-302G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,11.38,0.0008,1KG_AFR_AF,ATP6V1B1
438879,2:71170502:A>C,NM_001692.3:c.119-286A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.693,0.001,1KG_EUR_AF,ATP6V1B1
438880,2:71170506:A>T,NM_001692.3:c.119-282A>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.131,\N,\N,ATP6V1B1
438881,2:71170508:G>A,NM_001692.3:c.119-280G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,7.134,\N,\N,ATP6V1B1
438882,2:71170517:C>G,NM_001692.3:c.119-271C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,5.544,0.0031,1KG_SAS_AF,ATP6V1B1
438883,2:71170525:TGGG>T,NM_001692.3:c.119-260_119-258del,\N,\N,1/13,Unknown significance,\N,intron_variant,6.907,\N,\N,ATP6V1B1
438884,2:71170527:G>GCA,NM_001692.3:c.119-261_119-260insCA,\N,\N,1/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438885,2:71170528:G>C,NM_001692.3:c.119-260G>C,\N,\N,1/13,Benign,\N,intron_variant,4.642,0.0358,1KG_EUR_AF,ATP6V1B1
438886,2:71170529:G>A,NM_001692.3:c.119-259G>A,\N,\N,1/13,Benign,\N,intron_variant,7.245,0.0358,1KG_EUR_AF,ATP6V1B1
438887,2:71170530:GC>G,NM_001692.3:c.119-257del,\N,\N,1/13,Benign,\N,intron_variant,9.078,0.0358,1KG_EUR_AF,ATP6V1B1
438888,2:71170531:C>CAG,NM_001692.3:c.119-257_119-256insAG,\N,\N,1/13,Unknown significance,\N,intron_variant,9.171,\N,\N,ATP6V1B1
438889,2:71170532:G>A,NM_001692.3:c.119-256G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,7.555,0.001,1KG_EAS_AF,ATP6V1B1
438890,2:71170535:C>T,NM_001692.3:c.119-253C>T,\N,\N,1/13,Benign,\N,intron_variant,9.126,0.0258,1KG_EUR_AF,ATP6V1B1
438891,2:71170541:G>A,NM_001692.3:c.119-247G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,7.758,\N,\N,ATP6V1B1
438892,2:71170568:C>T,NM_001692.3:c.119-220C>T,\N,\N,1/13,Benign,\N,intron_variant,17.54,0.1422,1KG_AFR_AF,ATP6V1B1
438893,2:71170578:C>T,NM_001692.3:c.119-210C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,18.04,0.001,1KG_SAS_AF,ATP6V1B1
438894,2:71170587:G>A,NM_001692.3:c.119-201G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,16.72,0.000406339,EXAC_SAS_AF,ATP6V1B1
438895,2:71170587:G>C,NM_001692.3:c.119-201G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,14.87,0.0014,1KG_AMR_AF,ATP6V1B1
438896,2:71170590:C>T,NM_001692.3:c.119-198C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,18.43,0.000406174,EXAC_SAS_AF,ATP6V1B1
438897,2:71170596:G>T,NM_001692.3:c.119-192G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.83,\N,\N,ATP6V1B1
438898,2:71170608:C>T,NM_001692.3:c.119-180C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,17.12,0.000277316,EXAC_NFE_AF,ATP6V1B1
438899,2:71170610:G>A,NM_001692.3:c.119-178G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,15.83,0.000154512,EXAC_SAS_AF,ATP6V1B1
438900,2:71170617:G>T,NM_001692.3:c.119-171G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,15.12,\N,\N,ATP6V1B1
438901,2:71170624:C>A,NM_001692.3:c.119-164C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,20.2,0.0035461,EXAC_AMR_AF,ATP6V1B1
438902,2:71170628:A>G,NM_001692.3:c.119-160A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,16.18,0.000211954,EXAC_NFE_AF,ATP6V1B1
438903,2:71170634:A>G,NM_001692.3:c.119-154A>G,\N,\N,1/13,Unknown significance,\N,intron_variant,16,\N,\N,ATP6V1B1
438904,2:71170653:C>T,NM_001692.3:c.119-135C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,20.5,0.000168748,EXAC_NFE_AF,ATP6V1B1
438905,2:71170656:C>T,NM_001692.3:c.119-132C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,21.3,0.00289017,EXAC_AMR_AF,ATP6V1B1
438906,2:71170664:C>A,NM_001692.3:c.119-124C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,19.73,0.000565611,EXAC_AFR_AF,ATP6V1B1
438907,2:71170669:C>T,NM_001692.3:c.119-119C>T,\N,\N,1/13,Benign,\N,intron_variant,15,0.0305585,EXAC_AFR_AF,ATP6V1B1
438908,2:71170670:G>A,NM_001692.3:c.119-118G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,15.51,0.00458716,EXAC_AMR_AF,ATP6V1B1
438909,2:71170689:G>A,NM_001692.3:c.119-99G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,16.26,0.0000821423,EXAC_NFE_AF,ATP6V1B1
438910,2:71170690:TG>T,NM_001692.3:c.119-94del,\N,\N,1/13,Unknown significance,\N,intron_variant,16.42,0.000372578,EXAC_AFR_AF,ATP6V1B1
438911,2:71170690:T>A,NM_001692.3:c.119-98T>A,\N,\N,1/13,Unknown significance,\N,intron_variant,17.32,0.0000835561,EXAC_NFE_AF,ATP6V1B1
438912,2:71170698:GGA>G,NM_001692.3:c.119-84_119-83del,\N,\N,1/13,Benign,\N,intron_variant,6.015,0.255537,EXAC_AFR_AF,ATP6V1B1
438913,2:71170699:G>A,NM_001692.3:c.119-89G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,8.444,0.0000570972,EXAC_NFE_AF,ATP6V1B1
438914,2:71170699:G>C,NM_001692.3:c.119-89G>C,\N,\N,1/13,Unknown significance,\N,intron_variant,5.941,0.00423729,EXAC_AMR_AF,ATP6V1B1
438915,2:71170701:G>A,NM_001692.3:c.119-87G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,7.501,0.0000541126,EXAC_NFE_AF,ATP6V1B1
438916,2:71170708:A>C,NM_001692.3:c.119-80A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,0.574,0.000550614,EXAC_NFE_AF,ATP6V1B1
438917,2:71170709:G>A,NM_001692.3:c.119-79G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,3.032,0.000613121,EXAC_SAS_AF,ATP6V1B1
438918,2:71170717:AGAGGATGCCTCTGTGTGTGTGAGCAGGGTGTTTGGGGT>A,NM_001692.3:c.119-67_119-30del,\N,\N,1/13,Unknown significance,\N,intron_variant,14.42,\N,\N,ATP6V1B1
438919,2:71170725:CCT>C,NM_001692.3:c.119-60_119-59del,\N,\N,1/13,Unknown significance,\N,intron_variant,8.853,0.000089222,EXAC_SAS_AF,ATP6V1B1
438920,2:71170726:C>G,NM_001692.3:c.119-62C>G,\N,\N,1/13,Unknown significance,\N,intron_variant,7.467,0.000322581,EXAC_FIN_AF,ATP6V1B1
438921,2:71170734:G>A,NM_001692.3:c.119-54G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,5.439,0.000237079,EXAC_EAS_AF,ATP6V1B1
438922,2:71170734:G>T,NM_001692.3:c.119-54G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,3.209,0.000022243,EXAC_NFE_AF,ATP6V1B1
438923,2:71170736:G>A,NM_001692.3:c.119-52G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,1.872,\N,\N,ATP6V1B1
438924,2:71170743:G>A,NM_001692.3:c.119-45G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,11.87,0.001,1KG_SAS_AF,ATP6V1B1
438925,2:71170745:G>T,NM_001692.3:c.119-43G>T,\N,\N,1/13,Unknown significance,\N,intron_variant,8.405,0.0000190136,EXAC_NFE_AF,ATP6V1B1
438926,2:71170759:A>C,NM_001692.3:c.119-29A>C,\N,\N,1/13,Unknown significance,\N,intron_variant,9.73,\N,\N,ATP6V1B1
438927,2:71170760:C>A,NM_001692.3:c.119-28C>A,\N,\N,1/13,Unknown significance,\N,intron_variant,10.28,0.00011669,EXAC_NFE_AF,ATP6V1B1
438928,2:71170760:C>T,NM_001692.3:c.119-28C>T,\N,\N,1/13,Benign,\N,intron_variant,10.24,0.00699376,EXAC_AFR_AF,ATP6V1B1
438929,2:71170761:C>T,NM_001692.3:c.119-27C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,11.55,0.0000165453,EXAC_NFE_AF,ATP6V1B1
438930,2:71170762:C>T,NM_001692.3:c.119-26C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,12.05,0.0000164366,EXAC_NFE_AF,ATP6V1B1
438931,2:71170768:C>T,NM_001692.3:c.119-20C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,11.19,0.000232612,EVS_EA_AF,ATP6V1B1
438932,2:71170769:ACCCCCGCCCCTC>A,NM_001692.3:c.119-14_119-3del,\N,\N,1/13,Unknown significance,\N,splice_region_variant&intron_variant,12.52,\N,\N,ATP6V1B1
438933,2:71170774:C>T,NM_001692.3:c.119-14C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,14.16,0.0000899442,EXAC_AMR_AF,ATP6V1B1
438934,2:71170775:G>A,NM_001692.3:c.119-13G>A,\N,\N,1/13,Unknown significance,\N,intron_variant,14.73,0.000226963,EVS_AA_AF,ATP6V1B1
438935,2:71170775:G>GCCCCCC,NM_001692.3:c.119-9_119-8insCCCCCC,\N,\N,1/13,Unknown significance,\N,intron_variant,14.58,0.000100563,EXAC_AFR_AF,ATP6V1B1
438936,2:71170778:C>T,NM_001692.3:c.119-10C>T,\N,\N,1/13,Unknown significance,\N,intron_variant,17.21,0.0000153879,EXAC_NFE_AF,ATP6V1B1
438937,2:71170780:T>C,NM_001692.3:c.119-8T>C,\N,\N,1/13,Unknown significance,\N,splice_region_variant&intron_variant,10.28,\N,\N,ATP6V1B1
438938,2:71170781:C>T,NM_001692.3:c.119-7C>T,\N,\N,1/13,Unknown significance,\N,splice_region_variant&intron_variant,13.41,0.0000152714,EXAC_NFE_AF,ATP6V1B1
438939,2:71170783:C>T,NM_001692.3:c.119-5C>T,\N,\N,1/13,Unknown significance,\N,splice_region_variant&intron_variant,13.52,0.000175778,EXAC_AMR_AF,ATP6V1B1
438940,2:71170785:CAG>C,NM_001692.3:c.119-2_119-1del,\N,\N,1/13,Unknown significance,\N,splice_acceptor_variant,25.9,\N,\N,ATP6V1B1
438941,2:71170786:A>C,NM_001692.3:c.119-2A>C,\N,\N,1/13,Unknown significance,\N,splice_acceptor_variant,24.1,\N,\N,ATP6V1B1
438942,2:71170787:G>C,NM_001692.3:c.119-1G>C,\N,\N,1/13,Unknown significance,\N,splice_acceptor_variant,24.6,\N,\N,ATP6V1B1
438943,2:71170790:T>C,NM_001692.3:c.121T>C,NP_001683.2:p.Tyr41His,2/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.9,0.000117702,EXAC_EAS_AF,ATP6V1B1
438944,2:71170792:C>T,NM_001692.3:c.123C>T,NP_001683.2:p.Tyr41=,2/14,\N,Unknown significance,\N,synonymous_variant,8.675,0.000117592,EXAC_EAS_AF,ATP6V1B1
438945,2:71170795:G>A,NM_001692.3:c.126G>A,NP_001683.2:p.Arg42=,2/14,\N,Unknown significance,\N,synonymous_variant,10.55,0.0000609533,EXAC_SAS_AF,ATP6V1B1
438946,2:71170799:G>T,NM_001692.3:c.130G>T,NP_001683.2:p.Val44Leu,2/14,\N,Unknown significance,\N,missense_variant,14.19,0.000117481,EXAC_EAS_AF,ATP6V1B1
438947,2:71170804:C>T,NM_001692.3:c.135C>T,NP_001683.2:p.Cys45=,2/14,\N,Unknown significance,\N,synonymous_variant,10.94,0.00111607,EXAC_OTH_AF,ATP6V1B1
438948,2:71170805:A>G,NM_001692.3:c.136A>G,NP_001683.2:p.Ser46Gly,2/14,\N,Unknown significance,\N,missense_variant,8.506,0.000117151,EXAC_EAS_AF,ATP6V1B1
438949,2:71170807:C>T,NM_001692.3:c.138C>T,NP_001683.2:p.Ser46=,2/14,\N,Benign,\N,synonymous_variant,15.25,0.548043,EXAC_EAS_AF,ATP6V1B1
438950,2:71170808:G>A,NM_001692.3:c.139G>A,NP_001683.2:p.Val47Met,2/14,\N,Unknown significance,\N,missense_variant,27.6,0.0000301577,EXAC_NFE_AF,ATP6V1B1
438951,2:71170813:C>T,NM_001692.3:c.144C>T,NP_001683.2:p.Asn48=,2/14,\N,Benign,\N,synonymous_variant,14.3,0.0416,1KG_AFR_AF,ATP6V1B1
438952,2:71170813:C>A,NM_001692.3:c.144C>A,NP_001683.2:p.Asn48Lys,2/14,\N,Likely benign,\N,missense_variant,23.2,0.0000150816,EXAC_NFE_AF,ATP6V1B1
438953,2:71170814:G>A,NM_001692.3:c.145G>A,NP_001683.2:p.Gly49Arg,2/14,\N,Unknown significance,\N,missense_variant,31,0.000292797,EXAC_AFR_AF,ATP6V1B1
438954,2:71170817:C>T,NM_001692.3:c.148C>T,NP_001683.2:p.Pro50Ser,2/14,\N,Unknown significance,\N,missense_variant,20.9,\N,\N,ATP6V1B1
438955,2:71170826:G>A,NM_001692.3:c.157G>A,NP_001683.2:p.Val53Met,2/14,\N,Unknown significance,\N,missense_variant,23.8,0.000152486,EXAC_FIN_AF,ATP6V1B1
438956,2:71170835:C>G,NM_001692.3:c.166C>G,NP_001683.2:p.Arg56Gly,2/14,\N,Likely benign,\N,missense_variant,13.59,0.0000150966,EXAC_NFE_AF,ATP6V1B1
438957,2:71170835:C>T,NM_001692.3:c.166C>T,NP_001683.2:p.Arg56Trp,2/14,\N,Unknown significance,\N,missense_variant,32,0.0000301932,EXAC_NFE_AF,ATP6V1B1
438958,2:71170836:G>A,NM_001692.3:c.167G>A,NP_001683.2:p.Arg56Gln,2/14,\N,Likely benign,\N,missense_variant,20.9,0.0000150957,EXAC_NFE_AF,ATP6V1B1
438959,2:71170846:A>G,NM_001692.3:c.174+3A>G,\N,\N,2/13,Unknown significance,\N,splice_region_variant&intron_variant,10.57,0.000467181,EXAC_EAS_AF,ATP6V1B1
438960,2:71170849:A>ACTCTTCTGCTGC,NM_001692.3:c.174+10_174+21dup,\N,\N,2/13,Unknown significance,\N,splice_region_variant&intron_variant,3.426,\N,\N,ATP6V1B1
438961,2:71170884:C>G,NM_001692.3:c.174+41C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.768,0.0000151405,EXAC_NFE_AF,ATP6V1B1
438962,2:71170891:C>T,NM_001692.3:c.174+48C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.96,0.0038,1KG_AFR_AF,ATP6V1B1
438963,2:71170892:G>A,NM_001692.3:c.174+49G>A,\N,\N,2/13,Benign,\N,intron_variant,0.831,0.2231,1KG_AFR_AF,ATP6V1B1
438964,2:71170928:C>T,NM_001692.3:c.174+85C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.416,0.001,1KG_EAS_AF,ATP6V1B1
438965,2:71170941:T>C,NM_001692.3:c.174+98T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.188,0.0008,1KG_AFR_AF,ATP6V1B1
438966,2:71170944:C>G,NM_001692.3:c.174+101C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.273,0.001,1KG_EUR_AF,ATP6V1B1
438967,2:71170949:A>C,NM_001692.3:c.174+106A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,4.514,\N,\N,ATP6V1B1
438968,2:71171015:C>T,NM_001692.3:c.174+172C>T,\N,\N,2/13,Benign,\N,intron_variant,4.36,0.0447,1KG_AMR_AF,ATP6V1B1
438969,2:71171069:G>A,NM_001692.3:c.174+226G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.993,0.001,1KG_EAS_AF,ATP6V1B1
438970,2:71171094:ACCT>A,NM_001692.3:c.174+255_174+257del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
438971,2:71171115:G>A,NM_001692.3:c.174+272G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.119,0.0014,1KG_AMR_AF,ATP6V1B1
438972,2:71171121:C>CT,NM_001692.3:c.174+279dup,\N,\N,2/13,Unknown significance,\N,intron_variant,4.308,0.004,1KG_EUR_AF,ATP6V1B1
438973,2:71171128:C>A,NM_001692.3:c.174+285C>A,\N,\N,2/13,Benign,\N,intron_variant,2.676,0.0136,1KG_AFR_AF,ATP6V1B1
438974,2:71171129:G>A,NM_001692.3:c.174+286G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.218,\N,\N,ATP6V1B1
438975,2:71171135:C>T,NM_001692.3:c.174+292C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.445,0.001,1KG_EAS_AF,ATP6V1B1
438976,2:71171151:C>T,NM_001692.3:c.174+308C>T,\N,\N,2/13,Benign,\N,intron_variant,2.375,0.0869,1KG_SAS_AF,ATP6V1B1
438977,2:71171209:G>A,NM_001692.3:c.174+366G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.981,\N,\N,ATP6V1B1
438978,2:71171241:C>G,NM_001692.3:c.174+398C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.481,\N,\N,ATP6V1B1
438979,2:71171257:C>T,NM_001692.3:c.174+414C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.608,\N,\N,ATP6V1B1
438980,2:71171316:C>T,NM_001692.3:c.174+473C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.877,0.001,1KG_EAS_AF,ATP6V1B1
438981,2:71171321:A>G,NM_001692.3:c.174+478A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.23,0.000293255,EXAC_NFE_AF,ATP6V1B1
438982,2:71171325:G>C,NM_001692.3:c.174+482G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.417,0.000142369,EXAC_SAS_AF,ATP6V1B1
438983,2:71171348:G>C,NM_001692.3:c.174+505G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,10.85,\N,\N,ATP6V1B1
438984,2:71171369:G>A,NM_001692.3:c.174+526G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.11,0.001,1KG_SAS_AF,ATP6V1B1
438985,2:71171373:G>A,NM_001692.3:c.174+530G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.65,0.000142939,EXAC_SAS_AF,ATP6V1B1
438986,2:71171401:CTA>C,NM_001692.3:c.174+560_174+561del,\N,\N,2/13,Benign,\N,intron_variant,6.455,0.00877193,EXAC_OTH_AF,ATP6V1B1
438987,2:71171416:T>C,NM_001692.3:c.174+573T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.281,\N,\N,ATP6V1B1
438988,2:71171456:G>A,NM_001692.3:c.174+613G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.839,\N,\N,ATP6V1B1
438989,2:71171485:T>C,NM_001692.3:c.174+642T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.789,\N,\N,ATP6V1B1
438990,2:71171520:CACCA>C,NM_001692.3:c.174+682_174+685del,\N,\N,2/13,Unknown significance,\N,intron_variant,7.821,\N,\N,ATP6V1B1
438991,2:71171521:ACCAAC>A,NM_001692.3:c.174+680_174+684del,\N,\N,2/13,Benign,\N,intron_variant,9.198,0.0091,1KG_AFR_AF,ATP6V1B1
438992,2:71171545:C>G,NM_001692.3:c.174+702C>G,\N,\N,2/13,Benign,\N,intron_variant,2.636,0.2566,1KG_SAS_AF,ATP6V1B1
438993,2:71171557:C>G,NM_001692.3:c.174+714C>G,\N,\N,2/13,Benign,\N,intron_variant,0.035,0.0484,1KG_AFR_AF,ATP6V1B1
438994,2:71171583:C>T,NM_001692.3:c.174+740C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.516,\N,\N,ATP6V1B1
438995,2:71171596:A>T,NM_001692.3:c.174+753A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.634,0.0008,1KG_AFR_AF,ATP6V1B1
438996,2:71171613:C>T,NM_001692.3:c.174+770C>T,\N,\N,2/13,Benign,\N,intron_variant,3.889,0.0079,1KG_EAS_AF,ATP6V1B1
438997,2:71171616:C>A,NM_001692.3:c.174+773C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.784,0.0008,1KG_AFR_AF,ATP6V1B1
438998,2:71171620:C>T,NM_001692.3:c.174+777C>T,\N,\N,2/13,Benign,\N,intron_variant,1.558,0.0102,1KG_SAS_AF,ATP6V1B1
438999,2:71171661:C>T,NM_001692.3:c.174+818C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.017,\N,\N,ATP6V1B1
439000,2:71171676:G>A,NM_001692.3:c.174+833G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.099,\N,\N,ATP6V1B1
439001,2:71171692:C>T,NM_001692.3:c.174+849C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,15.14,\N,\N,ATP6V1B1
439002,2:71171711:C>A,NM_001692.3:c.174+868C>A,\N,\N,2/13,Benign,\N,intron_variant,7.837,0.0189,1KG_AFR_AF,ATP6V1B1
439003,2:71171728:G>A,NM_001692.3:c.174+885G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.76,\N,\N,ATP6V1B1
439004,2:71171763:A>G,NM_001692.3:c.174+920A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.16,0.0031,1KG_SAS_AF,ATP6V1B1
439005,2:71171767:C>G,NM_001692.3:c.174+924C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.772,\N,\N,ATP6V1B1
439006,2:71171782:A>T,NM_001692.3:c.174+939A>T,\N,\N,2/13,Benign,\N,intron_variant,1.553,0.5675,1KG_EAS_AF,ATP6V1B1
439007,2:71171796:TTC>T,NM_001692.3:c.174+955_174+956del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439008,2:71171797:TC>T,NM_001692.3:c.174+955del,\N,\N,2/13,Unknown significance,\N,intron_variant,1,\N,\N,ATP6V1B1
439009,2:71171798:C>CT,NM_001692.3:c.174+973dup,\N,\N,2/13,Unknown significance,\N,intron_variant,1.326,\N,\N,ATP6V1B1
439010,2:71171798:C>T,NM_001692.3:c.174+955C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.753,\N,\N,ATP6V1B1
439011,2:71171805:T>C,NM_001692.3:c.174+962T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.856,0.001,1KG_EAS_AF,ATP6V1B1
439012,2:71171821:C>T,NM_001692.3:c.174+978C>T,\N,\N,2/13,Benign,\N,intron_variant,1.313,0.0061,1KG_AFR_AF,ATP6V1B1
439013,2:71171859:C>T,NM_001692.3:c.174+1016C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.939,0.001,1KG_EAS_AF,ATP6V1B1
439014,2:71171860:G>A,NM_001692.3:c.174+1017G>A,\N,\N,2/13,Benign,\N,intron_variant,2.086,0.0079,1KG_EAS_AF,ATP6V1B1
439015,2:71171862:A>C,NM_001692.3:c.174+1019A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.183,0.0023,1KG_AFR_AF,ATP6V1B1
439016,2:71171889:T>C,NM_001692.3:c.174+1046T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.181,\N,\N,ATP6V1B1
439017,2:71171922:C>T,NM_001692.3:c.174+1079C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.022,0.001,1KG_EAS_AF,ATP6V1B1
439018,2:71171924:G>A,NM_001692.3:c.174+1081G>A,\N,\N,2/13,Benign,\N,intron_variant,0.166,0.5635,1KG_EAS_AF,ATP6V1B1
439019,2:71171944:A>G,NM_001692.3:c.174+1101A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.312,0.001,1KG_EUR_AF,ATP6V1B1
439020,2:71171947:C>T,NM_001692.3:c.174+1104C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.229,\N,\N,ATP6V1B1
439021,2:71171950:T>C,NM_001692.3:c.174+1107T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.13,0.001,1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
439022,2:71171960:A>G,NM_001692.3:c.174+1117A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.171,0.001,1KG_EUR_AF,ATP6V1B1
439023,2:71171972:G>GT,NM_001692.3:c.174+1135dup,\N,\N,2/13,Benign,\N,intron_variant,0.044,0.0239,1KG_EUR_AF,ATP6V1B1
439024,2:71171981:C>T,NM_001692.3:c.174+1138C>T,\N,\N,2/13,Benign,\N,intron_variant,0.235,0.7515,1KG_SAS_AF,ATP6V1B1
439025,2:71171987:C>CG,NM_001692.3:c.174+1148dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439026,2:71171998:C>T,NM_001692.3:c.174+1155C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.167,0.001,1KG_EUR_AF,ATP6V1B1
439027,2:71172018:C>T,NM_001692.3:c.174+1175C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.863,0.002,1KG_EAS_AF,ATP6V1B1
439028,2:71172019:G>A,NM_001692.3:c.174+1176G>A,\N,\N,2/13,Benign,\N,intron_variant,0.005,0.5635,1KG_EAS_AF,ATP6V1B1
439029,2:71172041:C>T,NM_001692.3:c.174+1198C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.356,\N,\N,ATP6V1B1
439030,2:71172044:G>A,NM_001692.3:c.174+1201G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.708,0.001,1KG_EUR_AF,ATP6V1B1
439031,2:71172053:T>C,NM_001692.3:c.174+1210T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.635,0.001,1KG_EUR_AF,ATP6V1B1
439032,2:71172054:C>T,NM_001692.3:c.174+1211C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.176,\N,\N,ATP6V1B1
439033,2:71172077:G>A,NM_001692.3:c.174+1234G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.588,\N,\N,ATP6V1B1
439034,2:71172088:T>C,NM_001692.3:c.174+1245T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.152,0.003,1KG_AFR_AF,ATP6V1B1
439035,2:71172090:C>G,NM_001692.3:c.174+1247C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.874,\N,\N,ATP6V1B1
439036,2:71172125:T>C,NM_001692.3:c.174+1282T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.003,\N,\N,ATP6V1B1
439037,2:71172154:C>T,NM_001692.3:c.174+1311C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.346,0.001,1KG_EAS_AF,ATP6V1B1
439038,2:71172158:C>A,NM_001692.3:c.174+1315C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.939,\N,\N,ATP6V1B1
439039,2:71172231:A>C,NM_001692.3:c.174+1388A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.346,0.0008,1KG_AFR_AF,ATP6V1B1
439040,2:71172231:A>G,NM_001692.3:c.174+1388A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,3.008,\N,\N,ATP6V1B1
439041,2:71172236:A>G,NM_001692.3:c.174+1393A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.492,\N,\N,ATP6V1B1
439042,2:71172243:A>T,NM_001692.3:c.174+1400A>T,\N,\N,2/13,Benign,\N,intron_variant,0.006,0.4692,1KG_EAS_AF,ATP6V1B1
439043,2:71172253:T>C,NM_001692.3:c.174+1410T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.469,\N,\N,ATP6V1B1
439044,2:71172276:A>G,NM_001692.3:c.174+1433A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,6.514,\N,\N,ATP6V1B1
439045,2:71172286:C>T,NM_001692.3:c.174+1443C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.068,\N,\N,ATP6V1B1
439046,2:71172297:C>T,NM_001692.3:c.174+1454C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.387,0.001,1KG_SAS_AF,ATP6V1B1
439047,2:71172313:A>G,NM_001692.3:c.174+1470A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.051,0.002,1KG_EUR_AF,ATP6V1B1
439048,2:71172355:A>G,NM_001692.3:c.174+1512A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.03,0.0008,1KG_AFR_AF,ATP6V1B1
439049,2:71172356:C>G,NM_001692.3:c.174+1513C>G,\N,\N,2/13,Benign,\N,intron_variant,0.029,0.4722,1KG_EAS_AF,ATP6V1B1
439050,2:71172356:C>T,NM_001692.3:c.174+1513C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.062,\N,\N,ATP6V1B1
439051,2:71172363:C>T,NM_001692.3:c.174+1520C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.917,\N,\N,ATP6V1B1
439052,2:71172366:C>G,NM_001692.3:c.174+1523C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.614,0.0008,1KG_AFR_AF,ATP6V1B1
439053,2:71172389:T>C,NM_001692.3:c.174+1546T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.77,0.0014,1KG_AMR_AF,ATP6V1B1
439054,2:71172417:G>A,NM_001692.3:c.174+1574G>A,\N,\N,2/13,Benign,\N,intron_variant,0.932,0.4742,1KG_EAS_AF,ATP6V1B1
439055,2:71172423:G>A,NM_001692.3:c.174+1580G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.476,\N,\N,ATP6V1B1
439056,2:71172442:C>T,NM_001692.3:c.174+1599C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.917,\N,\N,ATP6V1B1
439057,2:71172443:G>A,NM_001692.3:c.174+1600G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.621,0.0014,1KG_AMR_AF,ATP6V1B1
439058,2:71172489:G>A,NM_001692.3:c.174+1646G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.318,0.0008,1KG_AFR_AF,ATP6V1B1
439059,2:71172494:C>T,NM_001692.3:c.174+1651C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.323,\N,\N,ATP6V1B1
439060,2:71172500:T>C,NM_001692.3:c.174+1657T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.797,0.001,1KG_EUR_AF,ATP6V1B1
439061,2:71172520:T>C,NM_001692.3:c.174+1677T>C,\N,\N,2/13,Benign,\N,intron_variant,0.665,0.4742,1KG_EAS_AF,ATP6V1B1
439062,2:71172541:C>T,NM_001692.3:c.174+1698C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.417,0.0041,1KG_SAS_AF,ATP6V1B1
439063,2:71172587:C>G,NM_001692.3:c.174+1744C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.211,\N,\N,ATP6V1B1
439064,2:71172602:G>T,NM_001692.3:c.174+1759G>T,\N,\N,2/13,Benign,\N,intron_variant,0.974,0.4722,1KG_EAS_AF,ATP6V1B1
439065,2:71172607:A>G,NM_001692.3:c.174+1764A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.441,0.001,1KG_EUR_AF,ATP6V1B1
439066,2:71172611:G>C,NM_001692.3:c.174+1768G>C,\N,\N,2/13,Benign,\N,intron_variant,0.08,0.0098,1KG_AFR_AF,ATP6V1B1
439067,2:71172613:G>A,NM_001692.3:c.174+1770G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.487,\N,\N,ATP6V1B1
439068,2:71172617:A>AGAGT,NM_001692.3:c.174+1775_174+1778dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439069,2:71172617:AGAGT>A,NM_001692.3:c.174+1775_174+1778del,\N,\N,2/13,Benign,\N,intron_variant,3.879,0.4722,1KG_EAS_AF,ATP6V1B1
439070,2:71172624:G>A,NM_001692.3:c.174+1781G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.868,0.0008,1KG_AFR_AF,ATP6V1B1
439071,2:71172641:AG>A,NM_001692.3:c.174+1799del,\N,\N,2/13,Benign,\N,intron_variant,0.488,0.0166,1KG_AFR_AF,ATP6V1B1
439072,2:71172644:A>T,NM_001692.3:c.174+1801A>T,\N,\N,2/13,Benign,\N,intron_variant,0.264,0.4722,1KG_EAS_AF,ATP6V1B1
439073,2:71172651:A>C,NM_001692.3:c.174+1808A>C,\N,\N,2/13,Benign,\N,intron_variant,0.808,0.4722,1KG_EAS_AF,ATP6V1B1
439074,2:71172687:T>C,NM_001692.3:c.174+1844T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.17,\N,\N,ATP6V1B1
439075,2:71172726:A>G,NM_001692.3:c.174+1883A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.304,0.001,1KG_EUR_AF,ATP6V1B1
439076,2:71172750:G>A,NM_001692.3:c.174+1907G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.012,0.0038,1KG_AFR_AF,ATP6V1B1
439077,2:71172750:G>C,NM_001692.3:c.174+1907G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.491,\N,\N,ATP6V1B1
439078,2:71172805:G>A,NM_001692.3:c.174+1962G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.352,0.001,1KG_SAS_AF,ATP6V1B1
439079,2:71172828:A>AG,NM_001692.3:c.174+1986dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439080,2:71172829:G>GT,NM_001692.3:c.174+1986_174+1987insT,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439081,2:71172831:G>GA,NM_001692.3:c.174+1989dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439082,2:71172831:G>GAT,NM_001692.3:c.174+2028_174+2029dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.333,\N,\N,ATP6V1B1
439083,2:71172831:G>GATAT,NM_001692.3:c.174+2026_174+2029dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.277,\N,\N,ATP6V1B1
439084,2:71172831:G>GATATAT,NM_001692.3:c.174+2024_174+2029dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.231,\N,\N,ATP6V1B1
439085,2:71172831:G>T,NM_001692.3:c.174+1988G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.377,\N,\N,ATP6V1B1
439086,2:71172831:GATATATAT>G,NM_001692.3:c.174+2022_174+2029del,\N,\N,2/13,Unknown significance,\N,intron_variant,7.038,\N,\N,ATP6V1B1
439087,2:71172831:GATATATATAT>G,NM_001692.3:c.174+2020_174+2029del,\N,\N,2/13,Unknown significance,\N,intron_variant,6.769,\N,\N,ATP6V1B1
439088,2:71172833:T>G,NM_001692.3:c.174+1990T>G,\N,\N,2/13,Benign,\N,intron_variant,1.258,0.1667,1KG_SAS_AF,ATP6V1B1
439089,2:71172835:T>G,NM_001692.3:c.174+1992T>G,\N,\N,2/13,Benign,\N,intron_variant,0.133,0.1667,1KG_SAS_AF,ATP6V1B1
439090,2:71172837:T>G,NM_001692.3:c.174+1994T>G,\N,\N,2/13,Benign,\N,intron_variant,0.613,0.1667,1KG_SAS_AF,ATP6V1B1
439091,2:71172841:T>G,NM_001692.3:c.174+1998T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.673,\N,\N,ATP6V1B1
439092,2:71172843:T>G,NM_001692.3:c.174+2000T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.515,\N,\N,ATP6V1B1
439093,2:71172845:T>G,NM_001692.3:c.174+2002T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.755,\N,\N,ATP6V1B1
439094,2:71172851:T>TATATATATATAGAG,NM_001692.3:c.174+2019_174+2020insGAGATATATATATA,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439095,2:71172862:A>AAT,NM_001692.3:c.174+2019_174+2020insAT,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439096,2:71172897:G>A,NM_001692.3:c.174+2054G>A,\N,\N,2/13,Benign,\N,intron_variant,1.297,0.3429,1KG_AMR_AF,ATP6V1B1
439097,2:71172910:C>A,NM_001692.3:c.174+2067C>A,\N,\N,2/13,Benign,\N,intron_variant,0.585,0.0115,1KG_AMR_AF,ATP6V1B1
439098,2:71172928:G>A,NM_001692.3:c.174+2085G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.425,\N,\N,ATP6V1B1
439099,2:71172934:CTGTAATTT>C,NM_001692.3:c.174+2095_174+2102del,\N,\N,2/13,Benign,\N,intron_variant,5.476,0.0061,1KG_SAS_AF,ATP6V1B1
439100,2:71172985:C>T,NM_001692.3:c.174+2142C>T,\N,\N,2/13,Benign,\N,intron_variant,5.435,0.4732,1KG_EAS_AF,ATP6V1B1
439101,2:71172986:CT>C,NM_001692.3:c.174+2144del,\N,\N,2/13,Benign,\N,intron_variant,1.866,0.0053,1KG_AFR_AF,ATP6V1B1
439102,2:71172996:C>T,NM_001692.3:c.174+2153C>T,\N,\N,2/13,Benign,\N,intron_variant,10.49,0.0115,1KG_AMR_AF,ATP6V1B1
439103,2:71173035:T>A,NM_001692.3:c.174+2192T>A,\N,\N,2/13,Benign,\N,intron_variant,5.62,0.0358,1KG_EUR_AF,ATP6V1B1
439104,2:71173044:C>T,NM_001692.3:c.174+2201C>T,\N,\N,2/13,Benign,\N,intron_variant,3.349,0.0466,1KG_EAS_AF,ATP6V1B1
439105,2:71173091:G>A,NM_001692.3:c.174+2248G>A,\N,\N,2/13,Benign,\N,intron_variant,4.684,0.0119,1KG_EUR_AF,ATP6V1B1
439106,2:71173110:C>G,NM_001692.3:c.174+2267C>G,\N,\N,2/13,Benign,\N,intron_variant,3.179,0.0174,1KG_AFR_AF,ATP6V1B1
439107,2:71173114:G>A,NM_001692.3:c.174+2271G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.564,\N,\N,ATP6V1B1
439108,2:71173122:T>G,NM_001692.3:c.174+2279T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.556,0.001,1KG_SAS_AF,ATP6V1B1
439109,2:71173128:C>T,NM_001692.3:c.174+2285C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.88,\N,\N,ATP6V1B1
439110,2:71173137:A>C,NM_001692.3:c.174+2294A>C,\N,\N,2/13,Benign,\N,intron_variant,1.021,0.0121,1KG_AFR_AF,ATP6V1B1
439111,2:71173175:T>C,NM_001692.3:c.174+2332T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.199,0.001,1KG_EUR_AF,ATP6V1B1
439112,2:71173176:T>C,NM_001692.3:c.174+2333T>C,\N,\N,2/13,Benign,\N,intron_variant,1.187,0.0098,1KG_AFR_AF,ATP6V1B1
439113,2:71173178:T>C,NM_001692.3:c.174+2335T>C,\N,\N,2/13,Benign,\N,intron_variant,3.181,0.0358,1KG_EUR_AF,ATP6V1B1
439114,2:71173208:C>A,NM_001692.3:c.174+2365C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.031,\N,\N,ATP6V1B1
439115,2:71173214:T>C,NM_001692.3:c.174+2371T>C,\N,\N,2/13,Benign,\N,intron_variant,3.043,0.0179,1KG_EUR_AF,ATP6V1B1
439116,2:71173219:A>G,NM_001692.3:c.174+2376A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.549,\N,\N,ATP6V1B1
439117,2:71173238:G>A,NM_001692.3:c.174+2395G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.306,\N,\N,ATP6V1B1
439118,2:71173261:G>A,NM_001692.3:c.174+2418G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.56,0.0008,1KG_AFR_AF,ATP6V1B1
439119,2:71173265:G>T,NM_001692.3:c.174+2422G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.483,\N,\N,ATP6V1B1
439120,2:71173273:C>A,NM_001692.3:c.174+2430C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.355,0.0008,1KG_AFR_AF,ATP6V1B1
439121,2:71173292:T>G,NM_001692.3:c.174+2449T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,13.24,\N,\N,ATP6V1B1
439122,2:71173326:T>C,NM_001692.3:c.174+2483T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.401,0.001,1KG_EAS_AF,ATP6V1B1
439123,2:71173347:T>G,NM_001692.3:c.174+2504T>G,\N,\N,2/13,Benign,\N,intron_variant,2.88,0.0166,1KG_AFR_AF,ATP6V1B1
439124,2:71173348:T>G,NM_001692.3:c.174+2505T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.638,0.0014,1KG_AMR_AF,ATP6V1B1
439125,2:71173402:A>G,NM_001692.3:c.174+2559A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.46,0.004,1KG_EAS_AF,ATP6V1B1
439126,2:71173408:A>G,NM_001692.3:c.174+2565A>G,\N,\N,2/13,Benign,\N,intron_variant,2.955,0.4742,1KG_EAS_AF,ATP6V1B1
439127,2:71173420:A>C,NM_001692.3:c.174+2577A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.167,0.001,1KG_SAS_AF,ATP6V1B1
439128,2:71173422:T>C,NM_001692.3:c.174+2579T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.614,0.0008,1KG_AFR_AF,ATP6V1B1
439129,2:71173425:A>G,NM_001692.3:c.174+2582A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.795,\N,\N,ATP6V1B1
439130,2:71173431:C>T,NM_001692.3:c.174+2588C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.369,0.001,1KG_EAS_AF,ATP6V1B1
439131,2:71173473:C>T,NM_001692.3:c.174+2630C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.54,\N,\N,ATP6V1B1
439132,2:71173524:A>C,NM_001692.3:c.174+2681A>C,\N,\N,2/13,Benign,\N,intron_variant,7.856,0.4732,1KG_EAS_AF,ATP6V1B1
439133,2:71173554:T>C,NM_001692.3:c.174+2711T>C,\N,\N,2/13,Benign,\N,intron_variant,1.505,0.4702,1KG_EAS_AF,ATP6V1B1
439134,2:71173565:G>A,NM_001692.3:c.174+2722G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.966,0.0014,1KG_AMR_AF,ATP6V1B1
439135,2:71173617:C>T,NM_001692.3:c.174+2774C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.624,0.0008,1KG_AFR_AF,ATP6V1B1
439136,2:71173627:A>G,NM_001692.3:c.174+2784A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.353,0.004,1KG_EAS_AF,ATP6V1B1
439137,2:71173652:G>A,NM_001692.3:c.174+2809G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.963,0.0014,1KG_AMR_AF,ATP6V1B1
439138,2:71173660:G>A,NM_001692.3:c.174+2817G>A,\N,\N,2/13,Benign,\N,intron_variant,5.451,0.4732,1KG_EAS_AF,ATP6V1B1
439139,2:71173664:A>G,NM_001692.3:c.174+2821A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.655,0.001,1KG_EUR_AF,ATP6V1B1
439140,2:71173670:T>A,NM_001692.3:c.174+2827T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.28,\N,\N,ATP6V1B1
439141,2:71173679:T>C,NM_001692.3:c.174+2836T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.699,0.001,1KG_SAS_AF,ATP6V1B1
439142,2:71173689:T>C,NM_001692.3:c.174+2846T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.544,\N,\N,ATP6V1B1
439143,2:71173691:A>G,NM_001692.3:c.174+2848A>G,\N,\N,2/13,Benign,\N,intron_variant,0.246,0.4732,1KG_EAS_AF,ATP6V1B1
439144,2:71173696:C>T,NM_001692.3:c.174+2853C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.21,0.0015,1KG_AFR_AF,ATP6V1B1
439145,2:71173697:G>A,NM_001692.3:c.174+2854G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.511,\N,\N,ATP6V1B1
439146,2:71173808:G>C,NM_001692.3:c.174+2965G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.068,0.001,1KG_EAS_AF,ATP6V1B1
439147,2:71173835:C>T,NM_001692.3:c.174+2992C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.428,\N,\N,ATP6V1B1
439148,2:71173841:C>A,NM_001692.3:c.174+2998C>A,\N,\N,2/13,Benign,\N,intron_variant,7.901,0.4692,1KG_EAS_AF,ATP6V1B1
439149,2:71173845:A>C,NM_001692.3:c.174+3002A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,4.056,0.0008,1KG_AFR_AF,ATP6V1B1
439150,2:71173846:G>A,NM_001692.3:c.174+3003G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,9.162,\N,\N,ATP6V1B1
439151,2:71173860:CT>C,NM_001692.3:c.174+3018del,\N,\N,2/13,Unknown significance,\N,intron_variant,5.177,\N,\N,ATP6V1B1
439152,2:71173901:C>G,NM_001692.3:c.174+3058C>G,\N,\N,2/13,Benign,\N,intron_variant,2.07,0.0408,1KG_AFR_AF,ATP6V1B1
439153,2:71173943:T>C,NM_001692.3:c.174+3100T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.939,0.002,1KG_EUR_AF,ATP6V1B1
439154,2:71173967:TA>T,NM_001692.3:c.174+3128del,\N,\N,2/13,Unknown significance,\N,intron_variant,8.009,\N,\N,ATP6V1B1
439155,2:71173979:G>A,NM_001692.3:c.174+3136G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.49,0.0008,1KG_AFR_AF,ATP6V1B1
439156,2:71174007:G>T,NM_001692.3:c.174+3164G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.007,\N,\N,ATP6V1B1
439157,2:71174009:C>T,NM_001692.3:c.174+3166C>T,\N,\N,2/13,Benign,\N,intron_variant,2.983,0.3429,1KG_AMR_AF,ATP6V1B1
439158,2:71174015:GT>G,NM_001692.3:c.174+3176del,\N,\N,2/13,Benign,\N,intron_variant,1.46,0.006,1KG_EUR_AF,ATP6V1B1
439159,2:71174027:T>G,NM_001692.3:c.174+3184T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.96,\N,\N,ATP6V1B1
439160,2:71174078:C>T,NM_001692.3:c.174+3235C>T,\N,\N,2/13,Benign,\N,intron_variant,11.5,0.4216,1KG_EAS_AF,ATP6V1B1
439161,2:71174082:T>C,NM_001692.3:c.174+3239T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.295,0.0008,1KG_AFR_AF,ATP6V1B1
439162,2:71174090:C>A,NM_001692.3:c.174+3247C>A,\N,\N,2/13,Benign,\N,intron_variant,6.047,0.0053,1KG_AFR_AF,ATP6V1B1
439163,2:71174093:C>T,NM_001692.3:c.174+3250C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.01,\N,\N,ATP6V1B1
439164,2:71174096:C>T,NM_001692.3:c.174+3253C>T,\N,\N,2/13,Benign,\N,intron_variant,6.258,0.0229,1KG_EUR_AF,ATP6V1B1
439165,2:71174097:G>C,NM_001692.3:c.174+3254G>C,\N,\N,2/13,Benign,\N,intron_variant,0.349,0.025,1KG_AFR_AF,ATP6V1B1
439166,2:71174113:T>A,NM_001692.3:c.174+3270T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.028,\N,\N,ATP6V1B1
439167,2:71174114:C>A,NM_001692.3:c.174+3271C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.499,0.001,1KG_EUR_AF,ATP6V1B1
439168,2:71174114:C>T,NM_001692.3:c.174+3271C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.091,\N,\N,ATP6V1B1
439169,2:71174137:G>C,NM_001692.3:c.174+3294G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,4.368,0.0008,1KG_AFR_AF,ATP6V1B1
439170,2:71174161:C>T,NM_001692.3:c.174+3318C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,17.51,\N,\N,ATP6V1B1
439171,2:71174174:C>T,NM_001692.3:c.174+3331C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,9.187,0.001,1KG_EUR_AF,ATP6V1B1
439172,2:71174210:G>A,NM_001692.3:c.174+3367G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.493,\N,\N,ATP6V1B1
439173,2:71174230:T>C,NM_001692.3:c.174+3387T>C,\N,\N,2/13,Benign,\N,intron_variant,1.507,0.3429,1KG_AMR_AF,ATP6V1B1
439174,2:71174324:G>A,NM_001692.3:c.174+3481G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.916,0.0008,1KG_AFR_AF,ATP6V1B1
439175,2:71174347:G>A,NM_001692.3:c.174+3504G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.484,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
439176,2:71174361:G>A,NM_001692.3:c.174+3518G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.488,\N,\N,ATP6V1B1
439177,2:71174365:G>T,NM_001692.3:c.174+3522G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.036,\N,\N,ATP6V1B1
439178,2:71174389:A>G,NM_001692.3:c.174+3546A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.931,\N,\N,ATP6V1B1
439179,2:71174462:G>A,NM_001692.3:c.174+3619G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.898,\N,\N,ATP6V1B1
439180,2:71174484:C>T,NM_001692.3:c.174+3641C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.659,0.001,1KG_EUR_AF,ATP6V1B1
439181,2:71174507:G>T,NM_001692.3:c.174+3664G>T,\N,\N,2/13,Benign,\N,intron_variant,3.302,0.0356,1KG_AFR_AF,ATP6V1B1
439182,2:71174511:T>A,NM_001692.3:c.174+3668T>A,\N,\N,2/13,Benign,\N,intron_variant,7.025,0.0174,1KG_AFR_AF,ATP6V1B1
439183,2:71174531:A>G,NM_001692.3:c.174+3688A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.426,0.0008,1KG_AFR_AF,ATP6V1B1
439184,2:71174600:C>G,NM_001692.3:c.174+3757C>G,\N,\N,2/13,Benign,\N,intron_variant,2.278,0.1881,1KG_SAS_AF,ATP6V1B1
439185,2:71174644:G>A,NM_001692.3:c.174+3801G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.947,0.001,1KG_EAS_AF,ATP6V1B1
439186,2:71174647:T>C,NM_001692.3:c.174+3804T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,6.076,0.0008,1KG_AFR_AF,ATP6V1B1
439187,2:71174749:C>A,NM_001692.3:c.174+3906C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.442,0.003,1KG_EUR_AF,ATP6V1B1
439188,2:71174758:T>G,NM_001692.3:c.174+3915T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.917,\N,\N,ATP6V1B1
439189,2:71174764:G>A,NM_001692.3:c.174+3921G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.705,0.001,1KG_SAS_AF,ATP6V1B1
439190,2:71174816:C>G,NM_001692.3:c.174+3973C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,3.923,0.0015,1KG_AFR_AF,ATP6V1B1
439191,2:71174826:G>C,NM_001692.3:c.174+3983G>C,\N,\N,2/13,Benign,\N,intron_variant,1.019,0.0356,1KG_AFR_AF,ATP6V1B1
439192,2:71174862:C>A,NM_001692.3:c.174+4019C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.847,0.003,1KG_EAS_AF,ATP6V1B1
439193,2:71174884:C>G,NM_001692.3:c.174+4041C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.841,0.0008,1KG_AFR_AF,ATP6V1B1
439194,2:71174890:G>A,NM_001692.3:c.174+4047G>A,\N,\N,2/13,Benign,\N,intron_variant,3.085,0.0076,1KG_AFR_AF,ATP6V1B1
439195,2:71174904:A>C,NM_001692.3:c.174+4061A>C,\N,\N,2/13,Benign,\N,intron_variant,0.283,0.0466,1KG_EAS_AF,ATP6V1B1
439196,2:71174907:T>TC,NM_001692.3:c.174+4066dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439197,2:71174915:G>C,NM_001692.3:c.174+4072G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.502,\N,\N,ATP6V1B1
439198,2:71174940:C>A,NM_001692.3:c.174+4097C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.409,0.0008,1KG_AFR_AF,ATP6V1B1
439199,2:71174941:C>G,NM_001692.3:c.174+4098C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.842,0.003,1KG_AFR_AF,ATP6V1B1
439200,2:71174967:G>A,NM_001692.3:c.174+4124G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.663,\N,\N,ATP6V1B1
439201,2:71174990:C>G,NM_001692.3:c.174+4147C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,3.181,\N,\N,ATP6V1B1
439202,2:71175021:G>C,NM_001692.3:c.174+4178G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.786,0.0008,1KG_AFR_AF,ATP6V1B1
439203,2:71175045:GA>G,NM_001692.3:c.174+4203del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439204,2:71175051:C>T,NM_001692.3:c.174+4208C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.052,\N,\N,ATP6V1B1
439205,2:71175053:A>C,NM_001692.3:c.174+4210A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.175,\N,\N,ATP6V1B1
439206,2:71175054:T>C,NM_001692.3:c.174+4211T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.146,0.001,1KG_SAS_AF,ATP6V1B1
439207,2:71175076:G>A,NM_001692.3:c.174+4233G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.665,\N,\N,ATP6V1B1
439208,2:71175081:C>T,NM_001692.3:c.174+4238C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.246,\N,\N,ATP6V1B1
439209,2:71175095:G>C,NM_001692.3:c.174+4252G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.439,\N,\N,ATP6V1B1
439210,2:71175112:C>A,NM_001692.3:c.174+4269C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.113,\N,\N,ATP6V1B1
439211,2:71175112:CCAA>C,NM_001692.3:c.174+4276_174+4278del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439212,2:71175166:TA>T,NM_001692.3:c.174+4326del,\N,\N,2/13,Unknown significance,\N,intron_variant,7.219,0.0043,1KG_AMR_AF,ATP6V1B1
439213,2:71175178:A>C,NM_001692.3:c.174+4335A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.646,0.001,1KG_EAS_AF,ATP6V1B1
439214,2:71175219:C>G,NM_001692.3:c.174+4376C>G,\N,\N,2/13,Benign,\N,intron_variant,4.323,0.006,1KG_EUR_AF,ATP6V1B1
439215,2:71175232:G>C,NM_001692.3:c.174+4389G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.204,\N,\N,ATP6V1B1
439216,2:71175275:T>C,NM_001692.3:c.174+4432T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.993,0.0008,1KG_AFR_AF,ATP6V1B1
439217,2:71175294:G>T,NM_001692.3:c.174+4451G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.188,\N,\N,ATP6V1B1
439218,2:71175314:C>G,NM_001692.3:c.174+4471C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.241,0.002,1KG_EAS_AF,ATP6V1B1
439219,2:71175368:CACTT>C,NM_001692.3:c.174+4526_174+4529del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439220,2:71175370:C>CT,NM_001692.3:c.174+4538dup,\N,\N,2/13,Unknown significance,\N,intron_variant,6.569,\N,\N,ATP6V1B1
439221,2:71175370:CTTTT>C,NM_001692.3:c.174+4535_174+4538del,\N,\N,2/13,Benign,\N,intron_variant,5.648,0.7867,1KG_EAS_AF,ATP6V1B1
439222,2:71175372:T>A,NM_001692.3:c.174+4529T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.598,\N,\N,ATP6V1B1
439223,2:71175378:T>C,NM_001692.3:c.174+4535T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.504,\N,\N,ATP6V1B1
439224,2:71175378:TTTTC>T,NM_001692.3:c.174+4539_174+4542del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439225,2:71175406:G>T,NM_001692.3:c.174+4563G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.087,0.0008,1KG_AFR_AF,ATP6V1B1
439226,2:71175409:G>A,NM_001692.3:c.174+4566G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.542,0.0014,1KG_AMR_AF,ATP6V1B1
439227,2:71175460:C>T,NM_001692.3:c.174+4617C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.584,0.0014,1KG_AMR_AF,ATP6V1B1
439228,2:71175481:G>A,NM_001692.3:c.174+4638G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,10.26,\N,\N,ATP6V1B1
439229,2:71175488:C>T,NM_001692.3:c.174+4645C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,11.52,\N,\N,ATP6V1B1
439230,2:71175500:C>G,NM_001692.3:c.174+4657C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,9.106,\N,\N,ATP6V1B1
439231,2:71175506:C>T,NM_001692.3:c.174+4663C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.095,0.00115207,EXAC_NFE_AF,ATP6V1B1
439232,2:71175511:G>GAA,NM_001692.3:c.174+4671_174+4672dup,\N,\N,2/13,Benign,\N,intron_variant,9.365,0.1973,1KG_SAS_AF,ATP6V1B1
439233,2:71175533:C>T,NM_001692.3:c.174+4690C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.896,\N,\N,ATP6V1B1
439234,2:71175537:A>G,NM_001692.3:c.174+4694A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.867,0.00111607,EXAC_NFE_AF,ATP6V1B1
439235,2:71175552:T>TG,NM_001692.3:c.174+4713dup,\N,\N,2/13,Benign,\N,intron_variant,6.343,0.1984,1KG_SAS_AF,ATP6V1B1
439236,2:71175595:T>G,NM_001692.3:c.174+4752T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,6.301,0.002,1KG_SAS_AF,ATP6V1B1
439237,2:71175619:C>T,NM_001692.3:c.174+4776C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.179,0.001,1KG_SAS_AF,ATP6V1B1
439238,2:71175632:G>A,NM_001692.3:c.174+4789G>A,\N,\N,2/13,Benign,\N,intron_variant,5.895,0.0072,1KG_SAS_AF,ATP6V1B1
439239,2:71175644:G>A,NM_001692.3:c.174+4801G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.263,\N,\N,ATP6V1B1
439240,2:71175645:G>A,NM_001692.3:c.174+4802G>A,\N,\N,2/13,Benign,\N,intron_variant,6.356,0.2579,1KG_AMR_AF,ATP6V1B1
439241,2:71175650:G>A,NM_001692.3:c.174+4807G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.963,0.0015,1KG_AFR_AF,ATP6V1B1
439242,2:71175703:G>C,NM_001692.3:c.174+4860G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.405,0.0029,1KG_AMR_AF,ATP6V1B1
439243,2:71175705:A>ACGTCC,NM_001692.3:c.174+4865_174+4866insCCCGT,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,ATP6V1B1
439244,2:71175716:A>G,NM_001692.3:c.174+4873A>G,\N,\N,2/13,Benign,\N,intron_variant,3.773,0.2637,1KG_AMR_AF,ATP6V1B1
439245,2:71175718:G>T,NM_001692.3:c.174+4875G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.365,0.001,1KG_EUR_AF,ATP6V1B1
439246,2:71175774:C>T,NM_001692.3:c.174+4931C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,13.89,0.004,1KG_EUR_AF,ATP6V1B1
439247,2:71175791:T>G,NM_001692.3:c.174+4948T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,3.625,0.0015,1KG_AFR_AF,ATP6V1B1
439248,2:71175794:G>A,NM_001692.3:c.174+4951G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.09,\N,\N,ATP6V1B1
439249,2:71175797:C>T,NM_001692.3:c.174+4954C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,7.322,0.001,1KG_EAS_AF,ATP6V1B1
439250,2:71175808:T>TCGG,NM_001692.3:c.174+4966_174+4968dup,\N,\N,2/13,Unknown significance,\N,intron_variant,4.165,0.0031,1KG_SAS_AF,ATP6V1B1
439251,2:71175809:C>A,NM_001692.3:c.174+4966C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,9.151,\N,\N,ATP6V1B1
439252,2:71175810:G>A,NM_001692.3:c.174+4967G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.84,0.0008,1KG_AFR_AF,ATP6V1B1
439253,2:71175823:C>G,NM_001692.3:c.174+4980C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.418,\N,\N,ATP6V1B1
439254,2:71175842:A>G,NM_001692.3:c.174+4999A>G,\N,\N,2/13,Benign,\N,intron_variant,5.542,0.8775,1KG_AFR_AF,ATP6V1B1
439255,2:71175843:G>GC,NM_001692.3:c.174+5005dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439256,2:71175849:A>C,NM_001692.3:c.174+5006A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.023,0.002,1KG_SAS_AF,ATP6V1B1
439257,2:71175870:G>GT,NM_001692.3:c.174+5030dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439258,2:71175878:A>C,NM_001692.3:c.174+5035A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.406,\N,\N,ATP6V1B1
439259,2:71175886:G>A,NM_001692.3:c.174+5043G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,10.22,\N,\N,ATP6V1B1
439260,2:71175898:G>A,NM_001692.3:c.174+5055G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.18,0.001,1KG_EAS_AF,ATP6V1B1
439261,2:71175931:G>A,NM_001692.3:c.174+5088G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.302,0.002,1KG_SAS_AF,ATP6V1B1
439262,2:71175964:C>T,NM_001692.3:c.174+5121C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,14.03,0.002,1KG_SAS_AF,ATP6V1B1
439263,2:71176002:G>A,NM_001692.3:c.174+5159G>A,\N,\N,2/13,Benign,\N,intron_variant,3.613,0.0061,1KG_AFR_AF,ATP6V1B1
439264,2:71176035:G>A,NM_001692.3:c.174+5192G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.614,0.002,1KG_EUR_AF,ATP6V1B1
439265,2:71176037:G>A,NM_001692.3:c.174+5194G>A,\N,\N,2/13,Benign,\N,intron_variant,1.295,0.0446,1KG_EAS_AF,ATP6V1B1
439266,2:71176052:C>T,NM_001692.3:c.174+5209C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.408,0.0015,1KG_AFR_AF,ATP6V1B1
439267,2:71176073:G>A,NM_001692.3:c.174+5230G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.065,0.001,1KG_EUR_AF,ATP6V1B1
439268,2:71176090:C>T,NM_001692.3:c.174+5247C>T,\N,\N,2/13,Benign,\N,intron_variant,8.178,0.0102,1KG_SAS_AF,ATP6V1B1
439269,2:71176099:A>C,NM_001692.3:c.174+5256A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.572,0.003,1KG_AFR_AF,ATP6V1B1
439270,2:71176099:A>T,NM_001692.3:c.174+5256A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.78,\N,\N,ATP6V1B1
439271,2:71176165:A>C,NM_001692.3:c.174+5322A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,9.426,0.001,1KG_EUR_AF,ATP6V1B1
439272,2:71176175:T>A,NM_001692.3:c.174+5332T>A,\N,\N,2/13,Benign,\N,intron_variant,14.01,0.0204,1KG_SAS_AF,ATP6V1B1
439273,2:71176186:T>TA,NM_001692.3:c.174+5344dup,\N,\N,2/13,Benign,\N,intron_variant,5.787,0.2958,1KG_AFR_AF,ATP6V1B1
439274,2:71176202:C>A,NM_001692.3:c.174+5359C>A,\N,\N,2/13,Benign,\N,intron_variant,9.119,0.0924,1KG_EUR_AF,ATP6V1B1
439275,2:71176226:G>C,NM_001692.3:c.174+5383G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.211,0.001,1KG_SAS_AF,ATP6V1B1
439276,2:71176268:C>T,NM_001692.3:c.174+5425C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,12.32,\N,\N,ATP6V1B1
439277,2:71176275:C>A,NM_001692.3:c.174+5432C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,12.94,0.0014,1KG_AMR_AF,ATP6V1B1
439278,2:71176288:G>A,NM_001692.3:c.174+5445G>A,\N,\N,2/13,Benign,\N,intron_variant,12.81,0.0179,1KG_EUR_AF,ATP6V1B1
439279,2:71176301:C>A,NM_001692.3:c.174+5458C>A,\N,\N,2/13,Benign,\N,intron_variant,13.41,0.0102,1KG_SAS_AF,ATP6V1B1
439280,2:71176304:A>G,NM_001692.3:c.174+5461A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,12.06,\N,\N,ATP6V1B1
439281,2:71176325:G>C,NM_001692.3:c.174+5482G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.176,0.001,1KG_EUR_AF,ATP6V1B1
439282,2:71176342:G>A,NM_001692.3:c.174+5499G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.135,0.001,1KG_SAS_AF,ATP6V1B1
439283,2:71176344:C>T,NM_001692.3:c.174+5501C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.511,0.003,1KG_EUR_AF,ATP6V1B1
439284,2:71176383:T>C,NM_001692.3:c.174+5540T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.271,0.0015,1KG_AFR_AF,ATP6V1B1
439285,2:71176387:C>A,NM_001692.3:c.174+5544C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.637,\N,\N,ATP6V1B1
439286,2:71176396:C>T,NM_001692.3:c.174+5553C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.659,\N,\N,ATP6V1B1
439287,2:71176407:A>C,NM_001692.3:c.174+5564A>C,\N,\N,2/13,Benign,\N,intron_variant,0.779,0.0855,1KG_AFR_AF,ATP6V1B1
439288,2:71176420:A>G,NM_001692.3:c.174+5577A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,3.853,0.001,1KG_EAS_AF,ATP6V1B1
439289,2:71176424:G>A,NM_001692.3:c.174+5581G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.893,\N,\N,ATP6V1B1
439290,2:71176443:A>G,NM_001692.3:c.174+5600A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,7.044,\N,\N,ATP6V1B1
439291,2:71176478:G>T,NM_001692.3:c.174+5635G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.644,0.001,1KG_EUR_AF,ATP6V1B1
439292,2:71176527:T>C,NM_001692.3:c.174+5684T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,10.26,\N,\N,ATP6V1B1
439293,2:71176648:T>C,NM_001692.3:c.174+5805T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,11.25,0.0014,1KG_AMR_AF,ATP6V1B1
439294,2:71176660:C>T,NM_001692.3:c.174+5817C>T,\N,\N,2/13,Benign,\N,intron_variant,14.43,0.4049,1KG_AMR_AF,ATP6V1B1
439295,2:71176668:C>G,NM_001692.3:c.174+5825C>G,\N,\N,2/13,Benign,\N,intron_variant,13.54,0.0099,1KG_EUR_AF,ATP6V1B1
439296,2:71176672:C>T,NM_001692.3:c.174+5829C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,13.95,\N,\N,ATP6V1B1
439297,2:71176706:G>A,NM_001692.3:c.174+5863G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,15,\N,\N,ATP6V1B1
439298,2:71176725:T>C,NM_001692.3:c.174+5882T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,14.23,\N,\N,ATP6V1B1
439299,2:71176766:G>C,NM_001692.3:c.174+5923G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,9.135,0.0008,1KG_AFR_AF,ATP6V1B1
439300,2:71176802:A>G,NM_001692.3:c.174+5959A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,12.71,0.003,1KG_AFR_AF,ATP6V1B1
439301,2:71176830:A>G,NM_001692.3:c.174+5987A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,13.6,\N,\N,ATP6V1B1
439302,2:71176842:CT>C,NM_001692.3:c.174+6001del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439303,2:71176885:C>T,NM_001692.3:c.174+6042C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,9.527,\N,\N,ATP6V1B1
439304,2:71176886:G>A,NM_001692.3:c.174+6043G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,9.926,\N,\N,ATP6V1B1
439305,2:71176895:T>C,NM_001692.3:c.174+6052T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,9.143,0.001,1KG_EUR_AF,ATP6V1B1
439306,2:71176915:A>G,NM_001692.3:c.174+6072A>G,\N,\N,2/13,Benign,\N,intron_variant,9.033,0.0051,1KG_SAS_AF,ATP6V1B1
439307,2:71176920:T>C,NM_001692.3:c.174+6077T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,4.68,\N,\N,ATP6V1B1
439308,2:71176926:C>T,NM_001692.3:c.174+6083C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.614,0.0008,1KG_AFR_AF,ATP6V1B1
439309,2:71177050:A>G,NM_001692.3:c.174+6207A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,13.16,\N,\N,ATP6V1B1
439310,2:71177051:T>G,NM_001692.3:c.174+6208T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,12.73,0.0008,1KG_AFR_AF,ATP6V1B1
439311,2:71177113:T>A,NM_001692.3:c.174+6270T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.278,\N,\N,ATP6V1B1
439312,2:71177140:A>T,NM_001692.3:c.174+6297A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.961,0.0008,1KG_AFR_AF,ATP6V1B1
439313,2:71177156:T>G,NM_001692.3:c.174+6313T>G,\N,\N,2/13,Benign,\N,intron_variant,7.771,0.0061,1KG_AFR_AF,ATP6V1B1
439314,2:71177199:T>C,NM_001692.3:c.174+6356T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,4.201,0.003,1KG_EAS_AF,ATP6V1B1
439315,2:71177200:A>G,NM_001692.3:c.174+6357A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.811,\N,\N,ATP6V1B1
439316,2:71177296:G>A,NM_001692.3:c.174+6453G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.463,0.002,1KG_EAS_AF,ATP6V1B1
439317,2:71177303:T>A,NM_001692.3:c.174+6460T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.05,0.0008,1KG_AFR_AF,ATP6V1B1
439318,2:71177388:A>T,NM_001692.3:c.174+6545A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.518,0.0008,1KG_AFR_AF,ATP6V1B1
439319,2:71177395:A>G,NM_001692.3:c.174+6552A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.043,0.004,1KG_EUR_AF,ATP6V1B1
439320,2:71177397:T>G,NM_001692.3:c.174+6554T>G,\N,\N,2/13,Benign,\N,intron_variant,9.382,0.0098,1KG_AFR_AF,ATP6V1B1
439321,2:71177445:T>G,NM_001692.3:c.174+6602T>G,\N,\N,2/13,Benign,\N,intron_variant,16.29,0.0098,1KG_AFR_AF,ATP6V1B1
439322,2:71177446:T>G,NM_001692.3:c.174+6603T>G,\N,\N,2/13,Benign,\N,intron_variant,17.36,0.211,1KG_AFR_AF,ATP6V1B1
439323,2:71177523:T>TG,NM_001692.3:c.174+6680_174+6681insG,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439324,2:71177524:T>G,NM_001692.3:c.174+6681T>G,\N,\N,2/13,Benign,\N,intron_variant,2.816,0.0825,1KG_AFR_AF,ATP6V1B1
439325,2:71177526:TC>T,NM_001692.3:c.174+6684del,\N,\N,2/13,Benign,\N,intron_variant,2.039,0.0159,1KG_AFR_AF,ATP6V1B1
439326,2:71177527:C>T,NM_001692.3:c.174+6684C>T,\N,\N,2/13,Benign,\N,intron_variant,2.81,0.211,1KG_AFR_AF,ATP6V1B1
439327,2:71177581:C>A,NM_001692.3:c.174+6738C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.816,0.001,1KG_EUR_AF,ATP6V1B1
439328,2:71177584:C>T,NM_001692.3:c.174+6741C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.905,0.001,1KG_EUR_AF,ATP6V1B1
439329,2:71177587:T>G,NM_001692.3:c.174+6744T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,9.227,0.001,1KG_EUR_AF,ATP6V1B1
439330,2:71177588:G>T,NM_001692.3:c.174+6745G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,7.024,0.001,1KG_EUR_AF,ATP6V1B1
439331,2:71177592:A>G,NM_001692.3:c.174+6749A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.443,\N,\N,ATP6V1B1
439332,2:71177593:G>T,NM_001692.3:c.174+6750G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,7.804,0.001,1KG_EUR_AF,ATP6V1B1
439333,2:71177595:A>T,NM_001692.3:c.174+6752A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,7.411,0.001,1KG_EUR_AF,ATP6V1B1
439334,2:71177596:C>A,NM_001692.3:c.174+6753C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.961,0.001,1KG_EUR_AF,ATP6V1B1
439335,2:71177597:T>A,NM_001692.3:c.174+6754T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,10.58,0.001,1KG_EUR_AF,ATP6V1B1
439336,2:71177617:A>AT,NM_001692.3:c.174+6783dup,\N,\N,2/13,Benign,\N,intron_variant,10.04,0.2035,1KG_AFR_AF,ATP6V1B1
439337,2:71177617:AT>A,NM_001692.3:c.174+6783del,\N,\N,2/13,Benign,\N,intron_variant,11.44,0.183,1KG_SAS_AF,ATP6V1B1
439338,2:71177656:T>G,NM_001692.3:c.174+6813T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,17.43,\N,\N,ATP6V1B1
439339,2:71177673:C>A,NM_001692.3:c.174+6830C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,13.81,\N,\N,ATP6V1B1
439340,2:71177685:T>C,NM_001692.3:c.174+6842T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.831,0.001,1KG_SAS_AF,ATP6V1B1
439341,2:71177700:C>T,NM_001692.3:c.174+6857C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.807,0.0029,1KG_AMR_AF,ATP6V1B1
439342,2:71177701:G>A,NM_001692.3:c.174+6858G>A,\N,\N,2/13,Benign,\N,intron_variant,2.167,0.1483,1KG_AFR_AF,ATP6V1B1
439343,2:71177745:G>A,NM_001692.3:c.174+6902G>A,\N,\N,2/13,Benign,\N,intron_variant,1.227,0.0091,1KG_AFR_AF,ATP6V1B1
439344,2:71177830:C>G,NM_001692.3:c.174+6987C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.99,\N,\N,ATP6V1B1
439345,2:71177881:C>T,NM_001692.3:c.174+7038C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,9.393,0.001,1KG_EAS_AF,ATP6V1B1
439346,2:71177891:G>A,NM_001692.3:c.174+7048G>A,\N,\N,2/13,Benign,\N,intron_variant,1.611,0.0076,1KG_AFR_AF,ATP6V1B1
439347,2:71177897:A>T,NM_001692.3:c.174+7054A>T,\N,\N,2/13,Benign,\N,intron_variant,4.031,0.0119,1KG_EAS_AF,ATP6V1B1
439348,2:71177989:C>T,NM_001692.3:c.174+7146C>T,\N,\N,2/13,Benign,\N,intron_variant,6.054,0.0208,1KG_EAS_AF,ATP6V1B1
439349,2:71177990:G>C,NM_001692.3:c.174+7147G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.849,\N,\N,ATP6V1B1
439350,2:71178004:C>T,NM_001692.3:c.174+7161C>T,\N,\N,2/13,Benign,\N,intron_variant,3.526,0.4046,1KG_EUR_AF,ATP6V1B1
439351,2:71178060:T>G,NM_001692.3:c.175-7116T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.238,0.001,1KG_EUR_AF,ATP6V1B1
439352,2:71178062:A>AT,NM_001692.3:c.175-7087dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.832,\N,\N,ATP6V1B1
439353,2:71178062:A>ATT,NM_001692.3:c.175-7088_175-7087dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.767,\N,\N,ATP6V1B1
439354,2:71178062:A>ATTT,NM_001692.3:c.175-7089_175-7087dup,\N,\N,2/13,Unknown significance,\N,intron_variant,0.706,\N,\N,ATP6V1B1
439355,2:71178098:G>A,NM_001692.3:c.175-7078G>A,\N,\N,2/13,Benign,\N,intron_variant,9.749,0.4036,1KG_EUR_AF,ATP6V1B1
439356,2:71178103:A>T,NM_001692.3:c.175-7073A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,10.51,0.002,1KG_EAS_AF,ATP6V1B1
439357,2:71178114:C>T,NM_001692.3:c.175-7062C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,11.64,\N,\N,ATP6V1B1
439358,2:71178124:G>T,NM_001692.3:c.175-7052G>T,\N,\N,2/13,Benign,\N,intron_variant,5.668,0.0149,1KG_EUR_AF,ATP6V1B1
439359,2:71178160:G>C,NM_001692.3:c.175-7016G>C,\N,\N,2/13,Benign,\N,intron_variant,0.35,0.9917,1KG_AFR_AF,ATP6V1B1
439360,2:71178169:T>A,NM_001692.3:c.175-7007T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.536,0.001,1KG_EUR_AF,ATP6V1B1
439361,2:71178176:G>A,NM_001692.3:c.175-7000G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.271,0.003,1KG_AFR_AF,ATP6V1B1
439362,2:71178197:C>T,NM_001692.3:c.175-6979C>T,\N,\N,2/13,Benign,\N,intron_variant,0.135,0.0189,1KG_AFR_AF,ATP6V1B1
439363,2:71178198:G>A,NM_001692.3:c.175-6978G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.26,0.003,1KG_AFR_AF,ATP6V1B1
439364,2:71178208:G>A,NM_001692.3:c.175-6968G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.909,\N,\N,ATP6V1B1
439365,2:71178213:C>T,NM_001692.3:c.175-6963C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.328,0.003,1KG_AFR_AF,ATP6V1B1
439366,2:71178229:C>T,NM_001692.3:c.175-6947C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.173,0.001,1KG_EUR_AF,ATP6V1B1
439367,2:71178230:G>A,NM_001692.3:c.175-6946G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.405,0.003,1KG_AFR_AF,ATP6V1B1
439368,2:71178272:C>G,NM_001692.3:c.175-6904C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,4.716,\N,\N,ATP6V1B1
439369,2:71178280:C>T,NM_001692.3:c.175-6896C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.372,\N,\N,ATP6V1B1
439370,2:71178300:T>C,NM_001692.3:c.175-6876T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.95,0.0041,1KG_SAS_AF,ATP6V1B1
439371,2:71178315:T>G,NM_001692.3:c.175-6861T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.263,0.002,1KG_EUR_AF,ATP6V1B1
439372,2:71178319:C>T,NM_001692.3:c.175-6857C>T,\N,\N,2/13,Benign,\N,intron_variant,0.724,0.0053,1KG_AFR_AF,ATP6V1B1
439373,2:71178368:C>T,NM_001692.3:c.175-6808C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.45,\N,\N,ATP6V1B1
439374,2:71178394:C>G,NM_001692.3:c.175-6782C>G,\N,\N,2/13,Benign,\N,intron_variant,1.084,0.0174,1KG_AFR_AF,ATP6V1B1
439375,2:71178395:G>A,NM_001692.3:c.175-6781G>A,\N,\N,2/13,Benign,\N,intron_variant,1.839,0.005,1KG_EAS_AF,ATP6V1B1
439376,2:71178420:A>G,NM_001692.3:c.175-6756A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.308,\N,\N,ATP6V1B1
439377,2:71178453:C>A,NM_001692.3:c.175-6723C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.821,0.0041,1KG_SAS_AF,ATP6V1B1
439378,2:71178456:C>G,NM_001692.3:c.175-6720C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.96,0.0008,1KG_AFR_AF,ATP6V1B1
439379,2:71178506:A>G,NM_001692.3:c.175-6670A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.01,0.0014,1KG_AMR_AF,ATP6V1B1
439380,2:71178507:C>A,NM_001692.3:c.175-6669C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.925,0.001,1KG_EUR_AF,ATP6V1B1
439381,2:71178516:T>A,NM_001692.3:c.175-6660T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.331,\N,\N,ATP6V1B1
439382,2:71178570:AT>A,NM_001692.3:c.175-6596del,\N,\N,2/13,Unknown significance,\N,intron_variant,9.469,\N,\N,ATP6V1B1
439383,2:71178573:T>C,NM_001692.3:c.175-6603T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,6.872,0.001,1KG_SAS_AF,ATP6V1B1
439384,2:71178579:T>C,NM_001692.3:c.175-6597T>C,\N,\N,2/13,Benign,\N,intron_variant,3.6,0.0234,1KG_AFR_AF,ATP6V1B1
439385,2:71178652:G>C,NM_001692.3:c.175-6524G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.491,\N,\N,ATP6V1B1
439386,2:71178669:C>A,NM_001692.3:c.175-6507C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,12.09,0.001,1KG_EAS_AF,ATP6V1B1
439387,2:71178672:T>A,NM_001692.3:c.175-6504T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,11.85,\N,\N,ATP6V1B1
439388,2:71178702:T>G,NM_001692.3:c.175-6474T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,8.867,0.001,1KG_EAS_AF,ATP6V1B1
439389,2:71178731:C>T,NM_001692.3:c.175-6445C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.429,0.0014,1KG_AMR_AF,ATP6V1B1
439390,2:71178739:A>G,NM_001692.3:c.175-6437A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.389,0.0014,1KG_AMR_AF,ATP6V1B1
439391,2:71178753:C>G,NM_001692.3:c.175-6423C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.354,\N,\N,ATP6V1B1
439392,2:71178753:C>T,NM_001692.3:c.175-6423C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.69,\N,\N,ATP6V1B1
439393,2:71178759:C>A,NM_001692.3:c.175-6417C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.206,\N,\N,ATP6V1B1
439394,2:71178800:C>T,NM_001692.3:c.175-6376C>T,\N,\N,2/13,Benign,\N,intron_variant,2.392,0.0204,1KG_AFR_AF,ATP6V1B1
439395,2:71178801:G>A,NM_001692.3:c.175-6375G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.05,\N,\N,ATP6V1B1
439396,2:71178804:G>A,NM_001692.3:c.175-6372G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.557,0.001,1KG_SAS_AF,ATP6V1B1
439397,2:71178826:G>A,NM_001692.3:c.175-6350G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.281,\N,\N,ATP6V1B1
439398,2:71178854:C>G,NM_001692.3:c.175-6322C>G,\N,\N,2/13,Benign,\N,intron_variant,5.367,0.4036,1KG_EUR_AF,ATP6V1B1
439399,2:71178888:G>A,NM_001692.3:c.175-6288G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.091,\N,\N,ATP6V1B1
439400,2:71178943:C>T,NM_001692.3:c.175-6233C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.195,\N,\N,ATP6V1B1
439401,2:71178951:C>A,NM_001692.3:c.175-6225C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,9.66,0.001,1KG_EUR_AF,ATP6V1B1
439402,2:71179003:T>TG,NM_001692.3:c.175-6170dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439403,2:71179011:G>A,NM_001692.3:c.175-6165G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.863,0.001,1KG_SAS_AF,ATP6V1B1
439404,2:71179037:A>G,NM_001692.3:c.175-6139A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,7.751,\N,\N,ATP6V1B1
439405,2:71179087:T>A,NM_001692.3:c.175-6089T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,14.08,\N,\N,ATP6V1B1
439406,2:71179099:G>A,NM_001692.3:c.175-6077G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,14.29,\N,\N,ATP6V1B1
439407,2:71179110:T>C,NM_001692.3:c.175-6066T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,14.54,\N,\N,ATP6V1B1
439408,2:71179114:C>T,NM_001692.3:c.175-6062C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,15.21,0.001,1KG_EUR_AF,ATP6V1B1
439409,2:71179135:T>G,NM_001692.3:c.175-6041T>G,\N,\N,2/13,Benign,\N,intron_variant,15.75,0.2798,1KG_EAS_AF,ATP6V1B1
439410,2:71179151:T>C,NM_001692.3:c.175-6025T>C,\N,\N,2/13,Benign,\N,intron_variant,15.97,0.0189,1KG_AFR_AF,ATP6V1B1
439411,2:71179214:C>G,NM_001692.3:c.175-5962C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,6.879,0.001,1KG_EAS_AF,ATP6V1B1
439412,2:71179228:T>G,NM_001692.3:c.175-5948T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,6.956,\N,\N,ATP6V1B1
439413,2:71179236:G>C,NM_001692.3:c.175-5940G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.564,0.0014,1KG_AMR_AF,ATP6V1B1
439414,2:71179258:T>C,NM_001692.3:c.175-5918T>C,\N,\N,2/13,Benign,\N,intron_variant,7.343,0.0431,1KG_AFR_AF,ATP6V1B1
439415,2:71179276:G>C,NM_001692.3:c.175-5900G>C,\N,\N,2/13,Benign,\N,intron_variant,0.012,0.0069,1KG_EAS_AF,ATP6V1B1
439416,2:71179330:G>A,NM_001692.3:c.175-5846G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,10.47,0.0014,1KG_AMR_AF,ATP6V1B1
439417,2:71179450:G>A,NM_001692.3:c.175-5726G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.277,0.001,1KG_EAS_AF,ATP6V1B1
439418,2:71179453:C>T,NM_001692.3:c.175-5723C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.736,\N,\N,ATP6V1B1
439419,2:71179462:G>A,NM_001692.3:c.175-5714G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.221,0.001,1KG_SAS_AF,ATP6V1B1
439420,2:71179462:G>T,NM_001692.3:c.175-5714G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.458,\N,\N,ATP6V1B1
439421,2:71179535:G>A,NM_001692.3:c.175-5641G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.143,\N,\N,ATP6V1B1
439422,2:71179537:G>A,NM_001692.3:c.175-5639G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.377,0.001,1KG_EAS_AF,ATP6V1B1
439423,2:71179592:C>CA,NM_001692.3:c.175-5570dup,\N,\N,2/13,Unknown significance,\N,intron_variant,5.411,\N,\N,ATP6V1B1
439424,2:71179607:C>A,NM_001692.3:c.175-5569C>A,\N,\N,2/13,Benign,\N,intron_variant,2.337,0.0068,1KG_AFR_AF,ATP6V1B1
439425,2:71179628:A>G,NM_001692.3:c.175-5548A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.865,\N,\N,ATP6V1B1
439426,2:71179683:T>A,NM_001692.3:c.175-5493T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.077,\N,\N,ATP6V1B1
439427,2:71179689:A>G,NM_001692.3:c.175-5487A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.761,0.001,1KG_EAS_AF,ATP6V1B1
439428,2:71179702:C>G,NM_001692.3:c.175-5474C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.927,\N,\N,ATP6V1B1
439429,2:71179721:G>A,NM_001692.3:c.175-5455G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.059,0.001,1KG_EUR_AF,ATP6V1B1
439430,2:71179860:G>A,NM_001692.3:c.175-5316G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.787,0.0015,1KG_AFR_AF,ATP6V1B1
439431,2:71179889:C>T,NM_001692.3:c.175-5287C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.091,0.001,1KG_SAS_AF,ATP6V1B1
439432,2:71179977:G>A,NM_001692.3:c.175-5199G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.525,0.0008,1KG_AFR_AF,ATP6V1B1
439433,2:71179990:G>A,NM_001692.3:c.175-5186G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.307,0.001,1KG_EAS_AF,ATP6V1B1
439434,2:71180000:G>A,NM_001692.3:c.175-5176G>A,\N,\N,2/13,Benign,\N,intron_variant,2.238,0.0069,1KG_EAS_AF,ATP6V1B1
439435,2:71180048:C>T,NM_001692.3:c.175-5128C>T,\N,\N,2/13,Benign,\N,intron_variant,0.828,0.183,1KG_SAS_AF,ATP6V1B1
439436,2:71180066:G>A,NM_001692.3:c.175-5110G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.242,0.001,1KG_EUR_AF,ATP6V1B1
439437,2:71180095:GGTTT>G,NM_001692.3:c.175-5064_175-5061del,\N,\N,2/13,Benign,\N,intron_variant,2.444,0.0439,1KG_AFR_AF,ATP6V1B1
439438,2:71180098:T>C,NM_001692.3:c.175-5078T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.489,0.001,1KG_SAS_AF,ATP6V1B1
439439,2:71180121:T>C,NM_001692.3:c.175-5055T>C,\N,\N,2/13,Benign,\N,intron_variant,0.104,0.2352,1KG_AFR_AF,ATP6V1B1
439440,2:71180121:T>G,NM_001692.3:c.175-5055T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.34,0.0015,1KG_AFR_AF,ATP6V1B1
439441,2:71180168:C>T,NM_001692.3:c.175-5008C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.342,0.003,1KG_AFR_AF,ATP6V1B1
439442,2:71180219:C>A,NM_001692.3:c.175-4957C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,12.84,\N,\N,ATP6V1B1
439443,2:71180220:C>T,NM_001692.3:c.175-4956C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,12.8,\N,\N,ATP6V1B1
439444,2:71180298:G>A,NM_001692.3:c.175-4878G>A,\N,\N,2/13,Benign,\N,intron_variant,9.168,0.0189,1KG_AFR_AF,ATP6V1B1
439445,2:71180307:G>A,NM_001692.3:c.175-4869G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,9.709,\N,\N,ATP6V1B1
439446,2:71180328:T>C,NM_001692.3:c.175-4848T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.617,0.001,1KG_SAS_AF,ATP6V1B1
439447,2:71180344:C>T,NM_001692.3:c.175-4832C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,7.542,\N,\N,ATP6V1B1
439448,2:71180384:C>A,NM_001692.3:c.175-4792C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.669,0.0014,1KG_AMR_AF,ATP6V1B1
439449,2:71180420:C>G,NM_001692.3:c.175-4756C>G,\N,\N,2/13,Benign,\N,intron_variant,5.205,0.0098,1KG_AFR_AF,ATP6V1B1
439450,2:71180435:A>G,NM_001692.3:c.175-4741A>G,\N,\N,2/13,Benign,\N,intron_variant,2.913,0.0121,1KG_AFR_AF,ATP6V1B1
439451,2:71180474:G>A,NM_001692.3:c.175-4702G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.601,\N,\N,ATP6V1B1
439452,2:71180475:T>A,NM_001692.3:c.175-4701T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.227,\N,\N,ATP6V1B1
439453,2:71180513:T>G,NM_001692.3:c.175-4663T>G,\N,\N,2/13,Benign,\N,intron_variant,0.646,0.0431,1KG_AFR_AF,ATP6V1B1
439454,2:71180515:G>T,NM_001692.3:c.175-4661G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.028,0.0023,1KG_AFR_AF,ATP6V1B1
439455,2:71180528:A>G,NM_001692.3:c.175-4648A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.481,0.001,1KG_EAS_AF,ATP6V1B1
439456,2:71180538:G>A,NM_001692.3:c.175-4638G>A,\N,\N,2/13,Benign,\N,intron_variant,1.469,0.2315,1KG_AFR_AF,ATP6V1B1
439457,2:71180618:A>T,NM_001692.3:c.175-4558A>T,\N,\N,2/13,Benign,\N,intron_variant,0.497,0.4496,1KG_AMR_AF,ATP6V1B1
439458,2:71180777:C>T,NM_001692.3:c.175-4399C>T,\N,\N,2/13,Benign,\N,intron_variant,2.391,0.0106,1KG_AFR_AF,ATP6V1B1
439459,2:71180800:C>T,NM_001692.3:c.175-4376C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.983,0.0014,1KG_AMR_AF,ATP6V1B1
439460,2:71180810:T>C,NM_001692.3:c.175-4366T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.264,\N,\N,ATP6V1B1
439461,2:71180816:T>C,NM_001692.3:c.175-4360T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.845,\N,\N,ATP6V1B1
439462,2:71180872:T>C,NM_001692.3:c.175-4304T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.568,\N,\N,ATP6V1B1
439463,2:71180878:C>G,NM_001692.3:c.175-4298C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.758,0.0014,1KG_AMR_AF,ATP6V1B1
439464,2:71180940:A>C,NM_001692.3:c.175-4236A>C,\N,\N,2/13,Benign,\N,intron_variant,0.23,0.184,1KG_SAS_AF,ATP6V1B1
439465,2:71180962:C>A,NM_001692.3:c.175-4214C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.955,\N,\N,ATP6V1B1
439466,2:71181019:G>A,NM_001692.3:c.175-4157G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.675,0.0015,1KG_AFR_AF,ATP6V1B1
439467,2:71181035:T>C,NM_001692.3:c.175-4141T>C,\N,\N,2/13,Benign,\N,intron_variant,2.635,0.0136,1KG_AFR_AF,ATP6V1B1
439468,2:71181042:T>A,NM_001692.3:c.175-4134T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.199,\N,\N,ATP6V1B1
439469,2:71181070:G>C,NM_001692.3:c.175-4106G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.053,\N,\N,ATP6V1B1
439470,2:71181096:T>C,NM_001692.3:c.175-4080T>C,\N,\N,2/13,Benign,\N,intron_variant,5.124,0.0072,1KG_SAS_AF,ATP6V1B1
439471,2:71181099:G>A,NM_001692.3:c.175-4077G>A,\N,\N,2/13,Benign,\N,intron_variant,5.552,0.0106,1KG_AFR_AF,ATP6V1B1
439472,2:71181150:A>G,NM_001692.3:c.175-4026A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.67,\N,\N,ATP6V1B1
439473,2:71181208:A>G,NM_001692.3:c.175-3968A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.504,\N,\N,ATP6V1B1
439474,2:71181227:T>C,NM_001692.3:c.175-3949T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.624,0.0008,1KG_AFR_AF,ATP6V1B1
439475,2:71181297:T>A,NM_001692.3:c.175-3879T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,11.26,\N,\N,ATP6V1B1
439476,2:71181329:T>C,NM_001692.3:c.175-3847T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.464,\N,\N,ATP6V1B1
439477,2:71181364:A>G,NM_001692.3:c.175-3812A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.579,0.0008,1KG_AFR_AF,ATP6V1B1
439478,2:71181401:T>A,NM_001692.3:c.175-3775T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.14,\N,\N,ATP6V1B1
439479,2:71181411:C>G,NM_001692.3:c.175-3765C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.628,\N,\N,ATP6V1B1
439480,2:71181431:G>A,NM_001692.3:c.175-3745G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,12.47,\N,\N,ATP6V1B1
439481,2:71181450:A>T,NM_001692.3:c.175-3726A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,10.14,\N,\N,ATP6V1B1
439482,2:71181477:C>T,NM_001692.3:c.175-3699C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.168,0.001,1KG_SAS_AF,ATP6V1B1
439483,2:71181510:C>T,NM_001692.3:c.175-3666C>T,\N,\N,2/13,Benign,\N,intron_variant,3.199,0.2277,1KG_AFR_AF,ATP6V1B1
439484,2:71181524:T>C,NM_001692.3:c.175-3652T>C,\N,\N,2/13,Benign,\N,intron_variant,0.127,0.0274,1KG_AMR_AF,ATP6V1B1
439485,2:71181544:C>T,NM_001692.3:c.175-3632C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.995,0.0008,1KG_AFR_AF,ATP6V1B1
439486,2:71181548:T>C,NM_001692.3:c.175-3628T>C,\N,\N,2/13,Benign,\N,intron_variant,6.686,0.0497,1KG_EUR_AF,ATP6V1B1
439487,2:71181576:T>C,NM_001692.3:c.175-3600T>C,\N,\N,2/13,Benign,\N,intron_variant,2.509,0.0053,1KG_AFR_AF,ATP6V1B1
439488,2:71181628:T>TA,NM_001692.3:c.175-3546dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439489,2:71181660:T>C,NM_001692.3:c.175-3516T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.102,\N,\N,ATP6V1B1
439490,2:71181661:G>A,NM_001692.3:c.175-3515G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.325,0.0008,1KG_AFR_AF,ATP6V1B1
439491,2:71181670:T>A,NM_001692.3:c.175-3506T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.4,\N,\N,ATP6V1B1
439492,2:71181682:G>A,NM_001692.3:c.175-3494G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.316,0.001,1KG_SAS_AF,ATP6V1B1
439493,2:71181694:C>T,NM_001692.3:c.175-3482C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.397,\N,\N,ATP6V1B1
439494,2:71181784:TTTTG>T,NM_001692.3:c.175-3388_175-3385del,\N,\N,2/13,Benign,\N,intron_variant,1.874,0.0129,1KG_AFR_AF,ATP6V1B1
439495,2:71181792:T>C,NM_001692.3:c.175-3384T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.385,\N,\N,ATP6V1B1
439496,2:71181809:C>T,NM_001692.3:c.175-3367C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.535,0.0014,1KG_AMR_AF,ATP6V1B1
439497,2:71181810:G>A,NM_001692.3:c.175-3366G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.195,0.001,1KG_SAS_AF,ATP6V1B1
439498,2:71181825:C>T,NM_001692.3:c.175-3351C>T,\N,\N,2/13,Benign,\N,intron_variant,2.463,0.0159,1KG_AFR_AF,ATP6V1B1
439499,2:71181853:T>A,NM_001692.3:c.175-3323T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.976,0.001,1KG_EAS_AF,ATP6V1B1
439500,2:71181925:G>T,NM_001692.3:c.175-3251G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.131,\N,\N,ATP6V1B1
439501,2:71181946:A>G,NM_001692.3:c.175-3230A>G,\N,\N,2/13,Benign,\N,intron_variant,0.58,0.2153,1KG_EAS_AF,ATP6V1B1
439502,2:71181958:A>G,NM_001692.3:c.175-3218A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.014,0.0008,1KG_AFR_AF,ATP6V1B1
439503,2:71181964:G>A,NM_001692.3:c.175-3212G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.616,0.001,1KG_EAS_AF,ATP6V1B1
439504,2:71181982:AG>A,NM_001692.3:c.175-3191del,\N,\N,2/13,Benign,\N,intron_variant,10.46,0.4046,1KG_EUR_AF,ATP6V1B1
439505,2:71181992:G>A,NM_001692.3:c.175-3184G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.671,0.0029,1KG_AMR_AF,ATP6V1B1
439506,2:71181999:C>T,NM_001692.3:c.175-3177C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.489,0.001,1KG_EAS_AF,ATP6V1B1
439507,2:71182000:A>G,NM_001692.3:c.175-3176A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.162,0.0008,1KG_AFR_AF,ATP6V1B1
439508,2:71182079:C>T,NM_001692.3:c.175-3097C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.594,0.0008,1KG_AFR_AF,ATP6V1B1
439509,2:71182080:G>A,NM_001692.3:c.175-3096G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.174,\N,\N,ATP6V1B1
439510,2:71182140:C>G,NM_001692.3:c.175-3036C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.435,0.002,1KG_EAS_AF,ATP6V1B1
439511,2:71182171:T>C,NM_001692.3:c.175-3005T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.032,0.001,1KG_EAS_AF,ATP6V1B1
439512,2:71182217:C>T,NM_001692.3:c.175-2959C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.069,\N,\N,ATP6V1B1
439513,2:71182221:G>A,NM_001692.3:c.175-2955G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.253,0.0008,1KG_AFR_AF,ATP6V1B1
439514,2:71182226:G>A,NM_001692.3:c.175-2950G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.04,\N,\N,ATP6V1B1
439515,2:71182268:C>T,NM_001692.3:c.175-2908C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,4.334,0.0008,1KG_AFR_AF,ATP6V1B1
439516,2:71182289:TTTTTG>T,NM_001692.3:c.175-2886_175-2882del,\N,\N,2/13,Unknown significance,\N,intron_variant,2.983,0.002,1KG_EUR_AF,ATP6V1B1
439517,2:71182306:T>C,NM_001692.3:c.175-2870T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.962,\N,\N,ATP6V1B1
439518,2:71182322:A>G,NM_001692.3:c.175-2854A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.305,0.001,1KG_EUR_AF,ATP6V1B1
439519,2:71182324:G>C,NM_001692.3:c.175-2852G>C,\N,\N,2/13,Benign,\N,intron_variant,0.499,0.0431,1KG_AFR_AF,ATP6V1B1
439520,2:71182330:A>C,NM_001692.3:c.175-2846A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.48,\N,\N,ATP6V1B1
439521,2:71182349:C>T,NM_001692.3:c.175-2827C>T,\N,\N,2/13,Benign,\N,intron_variant,0.368,0.0053,1KG_AFR_AF,ATP6V1B1
439522,2:71182361:T>A,NM_001692.3:c.175-2815T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,7.168,0.0008,1KG_AFR_AF,ATP6V1B1
439523,2:71182365:G>A,NM_001692.3:c.175-2811G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.775,0.001,1KG_EUR_AF,ATP6V1B1
439524,2:71182461:C>A,NM_001692.3:c.175-2715C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.374,\N,\N,ATP6V1B1
439525,2:71182484:T>C,NM_001692.3:c.175-2692T>C,\N,\N,2/13,Benign,\N,intron_variant,2.129,0.1892,1KG_SAS_AF,ATP6V1B1
439526,2:71182512:C>T,NM_001692.3:c.175-2664C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.181,\N,\N,ATP6V1B1
439527,2:71182535:C>A,NM_001692.3:c.175-2641C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.442,0.001,1KG_EUR_AF,ATP6V1B1
439528,2:71182539:C>T,NM_001692.3:c.175-2637C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.991,0.001,1KG_EAS_AF,ATP6V1B1
439529,2:71182542:C>T,NM_001692.3:c.175-2634C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.948,\N,\N,ATP6V1B1
439530,2:71182547:T>C,NM_001692.3:c.175-2629T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.237,0.0008,1KG_AFR_AF,ATP6V1B1
439531,2:71182565:T>C,NM_001692.3:c.175-2611T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.045,0.001,1KG_EAS_AF,ATP6V1B1
439532,2:71182594:C>T,NM_001692.3:c.175-2582C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.358,0.001,1KG_EAS_AF,ATP6V1B1
439533,2:71182630:C>T,NM_001692.3:c.175-2546C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.95,0.0043,1KG_AMR_AF,ATP6V1B1
439534,2:71182671:G>A,NM_001692.3:c.175-2505G>A,\N,\N,2/13,Benign,\N,intron_variant,2.108,0.0058,1KG_AMR_AF,ATP6V1B1
439535,2:71182715:G>A,NM_001692.3:c.175-2461G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.597,0.003,1KG_AFR_AF,ATP6V1B1
439536,2:71182726:C>T,NM_001692.3:c.175-2450C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.548,\N,\N,ATP6V1B1
439537,2:71182773:C>T,NM_001692.3:c.175-2403C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.336,0.0023,1KG_AFR_AF,ATP6V1B1
439538,2:71182775:G>C,NM_001692.3:c.175-2401G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.271,0.001,1KG_EAS_AF,ATP6V1B1
439539,2:71182776:C>A,NM_001692.3:c.175-2400C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.436,0.001,1KG_EAS_AF,ATP6V1B1
439540,2:71182779:C>T,NM_001692.3:c.175-2397C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.485,0.0008,1KG_AFR_AF,ATP6V1B1
439541,2:71182786:T>C,NM_001692.3:c.175-2390T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.164,\N,\N,ATP6V1B1
439542,2:71182833:G>A,NM_001692.3:c.175-2343G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.083,0.0008,1KG_AFR_AF,ATP6V1B1
439543,2:71182842:T>TC,NM_001692.3:c.175-2332dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439544,2:71182844:C>G,NM_001692.3:c.175-2332C>G,\N,\N,2/13,Benign,\N,intron_variant,5.083,0.0431,1KG_AFR_AF,ATP6V1B1
439545,2:71182900:T>C,NM_001692.3:c.175-2276T>C,\N,\N,2/13,Benign,\N,intron_variant,12.48,0.5545,1KG_AFR_AF,ATP6V1B1
439546,2:71182955:G>T,NM_001692.3:c.175-2221G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.43,0.001,1KG_SAS_AF,ATP6V1B1
439547,2:71182966:C>T,NM_001692.3:c.175-2210C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.018,0.001,1KG_SAS_AF,ATP6V1B1
439548,2:71182985:T>G,NM_001692.3:c.175-2191T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.276,0.001,1KG_EAS_AF,ATP6V1B1
439549,2:71183056:C>T,NM_001692.3:c.175-2120C>T,\N,\N,2/13,Benign,\N,intron_variant,5.202,0.2065,1KG_AFR_AF,ATP6V1B1
439550,2:71183066:A>G,NM_001692.3:c.175-2110A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.374,0.001,1KG_EAS_AF,ATP6V1B1
439551,2:71183073:C>T,NM_001692.3:c.175-2103C>T,\N,\N,2/13,Benign,\N,intron_variant,6.464,0.0496,1KG_EAS_AF,ATP6V1B1
439552,2:71183074:G>A,NM_001692.3:c.175-2102G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.782,0.0015,1KG_AFR_AF,ATP6V1B1
439553,2:71183091:C>T,NM_001692.3:c.175-2085C>T,\N,\N,2/13,Benign,\N,intron_variant,7.764,0.0099,1KG_EUR_AF,ATP6V1B1
439554,2:71183092:G>A,NM_001692.3:c.175-2084G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.309,\N,\N,ATP6V1B1
439555,2:71183111:T>G,NM_001692.3:c.175-2065T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.18,\N,\N,ATP6V1B1
439556,2:71183131:C>T,NM_001692.3:c.175-2045C>T,\N,\N,2/13,Benign,\N,intron_variant,1.2,0.0645,1KG_EAS_AF,ATP6V1B1
439557,2:71183153:A>C,NM_001692.3:c.175-2023A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.884,0.0008,1KG_AFR_AF,ATP6V1B1
439558,2:71183161:A>G,NM_001692.3:c.175-2015A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.382,0.001,1KG_EUR_AF,ATP6V1B1
439559,2:71183177:C>G,NM_001692.3:c.175-1999C>G,\N,\N,2/13,Benign,\N,intron_variant,3.905,0.0645,1KG_EAS_AF,ATP6V1B1
439560,2:71183183:T>C,NM_001692.3:c.175-1993T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.141,0.0014,1KG_AMR_AF,ATP6V1B1
439561,2:71183193:T>TG,NM_001692.3:c.175-1981dup,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439562,2:71183215:A>G,NM_001692.3:c.175-1961A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.664,\N,\N,ATP6V1B1
439563,2:71183231:A>G,NM_001692.3:c.175-1945A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.655,\N,\N,ATP6V1B1
439564,2:71183243:G>A,NM_001692.3:c.175-1933G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.994,\N,\N,ATP6V1B1
439565,2:71183253:T>A,NM_001692.3:c.175-1923T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.186,\N,\N,ATP6V1B1
439566,2:71183277:T>C,NM_001692.3:c.175-1899T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.547,0.001,1KG_EAS_AF,ATP6V1B1
439567,2:71183279:C>T,NM_001692.3:c.175-1897C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.851,0.001,1KG_SAS_AF,ATP6V1B1
439568,2:71183284:A>G,NM_001692.3:c.175-1892A>G,\N,\N,2/13,Benign,\N,intron_variant,2.693,0.0099,1KG_EUR_AF,ATP6V1B1
439569,2:71183310:C>A,NM_001692.3:c.175-1866C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.879,\N,\N,ATP6V1B1
439570,2:71183355:C>T,NM_001692.3:c.175-1821C>T,\N,\N,2/13,Benign,\N,intron_variant,1.682,0.0099,1KG_EAS_AF,ATP6V1B1
439571,2:71183361:C>G,NM_001692.3:c.175-1815C>G,\N,\N,2/13,Benign,\N,intron_variant,2.89,0.0431,1KG_AFR_AF,ATP6V1B1
439572,2:71183416:C>T,NM_001692.3:c.175-1760C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.142,0.001,1KG_EAS_AF|1KG_SAS_AF,ATP6V1B1
439573,2:71183440:C>T,NM_001692.3:c.175-1736C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.173,\N,\N,ATP6V1B1
439574,2:71183441:G>A,NM_001692.3:c.175-1735G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.834,0.0008,1KG_AFR_AF,ATP6V1B1
439575,2:71183443:G>A,NM_001692.3:c.175-1733G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.096,0.0043,1KG_AMR_AF,ATP6V1B1
439576,2:71183445:C>T,NM_001692.3:c.175-1731C>T,\N,\N,2/13,Benign,\N,intron_variant,3.698,0.0098,1KG_AFR_AF,ATP6V1B1
439577,2:71183453:A>G,NM_001692.3:c.175-1723A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.431,0.001,1KG_EUR_AF,ATP6V1B1
439578,2:71183477:T>C,NM_001692.3:c.175-1699T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.846,\N,\N,ATP6V1B1
439579,2:71183489:C>T,NM_001692.3:c.175-1687C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.134,0.0041,1KG_SAS_AF,ATP6V1B1
439580,2:71183508:G>C,NM_001692.3:c.175-1668G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.174,0.0008,1KG_AFR_AF,ATP6V1B1
439581,2:71183511:C>A,NM_001692.3:c.175-1665C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.506,0.001,1KG_EAS_AF,ATP6V1B1
439582,2:71183521:C>G,NM_001692.3:c.175-1655C>G,\N,\N,2/13,Benign,\N,intron_variant,2.114,0.1135,1KG_AFR_AF,ATP6V1B1
439583,2:71183541:A>G,NM_001692.3:c.175-1635A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.149,\N,\N,ATP6V1B1
439584,2:71183554:G>A,NM_001692.3:c.175-1622G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.896,\N,\N,ATP6V1B1
439585,2:71183619:T>G,NM_001692.3:c.175-1557T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,5.81,\N,\N,ATP6V1B1
439586,2:71183636:G>A,NM_001692.3:c.175-1540G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.504,\N,\N,ATP6V1B1
439587,2:71183653:A>C,NM_001692.3:c.175-1523A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.67,0.0023,1KG_AFR_AF,ATP6V1B1
439588,2:71183655:T>A,NM_001692.3:c.175-1521T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,10.78,0.0008,1KG_AFR_AF,ATP6V1B1
439589,2:71183682:G>A,NM_001692.3:c.175-1494G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.2,0.0043,1KG_AMR_AF,ATP6V1B1
439590,2:71183730:A>T,NM_001692.3:c.175-1446A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.688,\N,\N,ATP6V1B1
439591,2:71183755:C>T,NM_001692.3:c.175-1421C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.229,0.0014,1KG_AMR_AF,ATP6V1B1
439592,2:71183761:C>A,NM_001692.3:c.175-1415C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.243,\N,\N,ATP6V1B1
439593,2:71183774:C>T,NM_001692.3:c.175-1402C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.33,0.0008,1KG_AFR_AF,ATP6V1B1
439594,2:71183791:T>G,NM_001692.3:c.175-1385T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.556,0.003,1KG_AFR_AF,ATP6V1B1
439595,2:71183818:T>G,NM_001692.3:c.175-1358T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.294,\N,\N,ATP6V1B1
439596,2:71183826:T>C,NM_001692.3:c.175-1350T>C,\N,\N,2/13,Benign,\N,intron_variant,0.158,0.2625,1KG_AFR_AF,ATP6V1B1
439597,2:71183844:T>C,NM_001692.3:c.175-1332T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.231,\N,\N,ATP6V1B1
439598,2:71183883:G>A,NM_001692.3:c.175-1293G>A,\N,\N,2/13,Benign,\N,intron_variant,1.379,0.5229,1KG_EUR_AF,ATP6V1B1
439599,2:71183904:G>C,NM_001692.3:c.175-1272G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.426,\N,\N,ATP6V1B1
439600,2:71183917:A>T,NM_001692.3:c.175-1259A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.238,\N,\N,ATP6V1B1
439601,2:71183950:T>C,NM_001692.3:c.175-1226T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.198,0.003,1KG_EAS_AF,ATP6V1B1
439602,2:71183961:T>C,NM_001692.3:c.175-1215T>C,\N,\N,2/13,Benign,\N,intron_variant,0.163,0.6755,1KG_AFR_AF,ATP6V1B1
439603,2:71183962:G>A,NM_001692.3:c.175-1214G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.179,0.0008,1KG_AFR_AF,ATP6V1B1
439604,2:71184006:T>C,NM_001692.3:c.175-1170T>C,\N,\N,2/13,Benign,\N,intron_variant,0.061,0.0089,1KG_EUR_AF,ATP6V1B1
439605,2:71184016:A>G,NM_001692.3:c.175-1160A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.12,0.001,1KG_EAS_AF,ATP6V1B1
439606,2:71184054:G>A,NM_001692.3:c.175-1122G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.102,0.0023,1KG_AFR_AF,ATP6V1B1
439607,2:71184064:C>T,NM_001692.3:c.175-1112C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.874,0.001,1KG_EUR_AF,ATP6V1B1
439608,2:71184080:T>C,NM_001692.3:c.175-1096T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.077,0.001,1KG_EUR_AF,ATP6V1B1
439609,2:71184082:C>T,NM_001692.3:c.175-1094C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.91,0.003,1KG_AFR_AF,ATP6V1B1
439610,2:71184084:T>C,NM_001692.3:c.175-1092T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.661,\N,\N,ATP6V1B1
439611,2:71184128:T>C,NM_001692.3:c.175-1048T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.059,\N,\N,ATP6V1B1
439612,2:71184169:A>T,NM_001692.3:c.175-1007A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.091,0.0031,1KG_SAS_AF,ATP6V1B1
439613,2:71184179:C>T,NM_001692.3:c.175-997C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.225,0.001,1KG_EUR_AF,ATP6V1B1
439614,2:71184217:C>T,NM_001692.3:c.175-959C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,2.009,\N,\N,ATP6V1B1
439615,2:71184217:CT>C,NM_001692.3:c.175-941del,\N,\N,2/13,Benign,\N,intron_variant,4.233,0.4002,1KG_AFR_AF,ATP6V1B1
439616,2:71184235:T>G,NM_001692.3:c.175-941T>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.33,\N,\N,ATP6V1B1
439617,2:71184237:G>T,NM_001692.3:c.175-939G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.44,\N,\N,ATP6V1B1
439618,2:71184277:C>T,NM_001692.3:c.175-899C>T,\N,\N,2/13,Benign,\N,intron_variant,0.389,0.1131,1KG_EAS_AF,ATP6V1B1
439619,2:71184278:G>A,NM_001692.3:c.175-898G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.359,0.0045,1KG_AFR_AF,ATP6V1B1
439620,2:71184285:C>T,NM_001692.3:c.175-891C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.854,0.001,1KG_EAS_AF|1KG_EUR_AF,ATP6V1B1
439621,2:71184337:T>C,NM_001692.3:c.175-839T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.613,0.003,1KG_EAS_AF,ATP6V1B1
439622,2:71184380:AAT>A,NM_001692.3:c.175-776_175-775del,\N,\N,2/13,Benign,\N,intron_variant,0.38,0.8512,1KG_EAS_AF,ATP6V1B1
439623,2:71184380:AATAT>A,NM_001692.3:c.175-778_175-775del,\N,\N,2/13,Unknown significance,\N,intron_variant,6.192,\N,\N,ATP6V1B1
439624,2:71184384:T>A,NM_001692.3:c.175-792T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.487,\N,\N,ATP6V1B1
439625,2:71184397:AT>A,NM_001692.3:c.175-778del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439626,2:71184400:TAG>T,NM_001692.3:c.175-775_175-774del,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439627,2:71184401:AG>TA,NM_001692.3:c.175-775_175-774delinsTA,\N,\N,2/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439628,2:71184430:A>T,NM_001692.3:c.175-746A>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.909,0.004,1KG_EUR_AF,ATP6V1B1
439629,2:71184435:G>A,NM_001692.3:c.175-741G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.426,\N,\N,ATP6V1B1
439630,2:71184436:C>A,NM_001692.3:c.175-740C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.199,0.002,1KG_EUR_AF,ATP6V1B1
439631,2:71184472:C>T,NM_001692.3:c.175-704C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,0.146,\N,\N,ATP6V1B1
439632,2:71184482:G>A,NM_001692.3:c.175-694G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.142,\N,\N,ATP6V1B1
439633,2:71184494:T>G,NM_001692.3:c.175-682T>G,\N,\N,2/13,Benign,\N,intron_variant,2.956,0.6131,1KG_EAS_AF,ATP6V1B1
439634,2:71184512:G>A,NM_001692.3:c.175-664G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,5.893,\N,\N,ATP6V1B1
439635,2:71184579:TC>T,NM_001692.3:c.175-594del,\N,\N,2/13,Unknown significance,\N,intron_variant,4.452,0.0045,1KG_AFR_AF,ATP6V1B1
439636,2:71184594:C>T,NM_001692.3:c.175-582C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.69,\N,\N,ATP6V1B1
439637,2:71184634:C>T,NM_001692.3:c.175-542C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.987,0.0014,1KG_AMR_AF,ATP6V1B1
439638,2:71184641:G>A,NM_001692.3:c.175-535G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,3.733,0.001,1KG_EUR_AF,ATP6V1B1
439639,2:71184648:G>C,NM_001692.3:c.175-528G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.035,0.001,1KG_EAS_AF,ATP6V1B1
439640,2:71184672:C>T,NM_001692.3:c.175-504C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.243,0.001,1KG_EUR_AF,ATP6V1B1
439641,2:71184674:C>T,NM_001692.3:c.175-502C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,1.165,\N,\N,ATP6V1B1
439642,2:71184684:G>C,NM_001692.3:c.175-492G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.774,\N,\N,ATP6V1B1
439643,2:71184722:GCCCAGT>G,NM_001692.3:c.175-452_175-447del,\N,\N,2/13,Benign,\N,intron_variant,7.868,0.0522,1KG_AFR_AF,ATP6V1B1
439644,2:71184728:T>A,NM_001692.3:c.175-448T>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.471,0.0008,1KG_AFR_AF,ATP6V1B1
439645,2:71184743:T>C,NM_001692.3:c.175-433T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,0.651,0.001,1KG_SAS_AF,ATP6V1B1
439646,2:71184762:G>T,NM_001692.3:c.175-414G>T,\N,\N,2/13,Benign,\N,intron_variant,6.992,0.0061,1KG_SAS_AF,ATP6V1B1
439647,2:71184785:T>C,NM_001692.3:c.175-391T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,2.209,0.001,1KG_EAS_AF,ATP6V1B1
439648,2:71184791:TG>T,NM_001692.3:c.175-384del,\N,\N,2/13,Unknown significance,\N,intron_variant,2.582,0.002,1KG_EAS_AF,ATP6V1B1
439649,2:71184798:T>C,NM_001692.3:c.175-378T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.849,0.002,1KG_EAS_AF,ATP6V1B1
439650,2:71184818:C>A,NM_001692.3:c.175-358C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.191,0.001,1KG_SAS_AF,ATP6V1B1
439651,2:71184819:C>T,NM_001692.3:c.175-357C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,3.643,\N,\N,ATP6V1B1
439652,2:71184820:G>A,NM_001692.3:c.175-356G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,1.042,0.001,1KG_SAS_AF,ATP6V1B1
439653,2:71184830:G>A,NM_001692.3:c.175-346G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,8.396,\N,\N,ATP6V1B1
439654,2:71184846:A>C,NM_001692.3:c.175-330A>C,\N,\N,2/13,Benign,\N,intron_variant,0.506,0.0439,1KG_AFR_AF,ATP6V1B1
439655,2:71184858:C>T,NM_001692.3:c.175-318C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,10.52,0.002,1KG_SAS_AF,ATP6V1B1
439656,2:71184865:A>C,NM_001692.3:c.175-311A>C,\N,\N,2/13,Unknown significance,\N,intron_variant,5.44,0.001,1KG_SAS_AF,ATP6V1B1
439657,2:71184881:T>C,NM_001692.3:c.175-295T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.182,0.002,1KG_EAS_AF,ATP6V1B1
439658,2:71184884:G>C,NM_001692.3:c.175-292G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,1.49,\N,\N,ATP6V1B1
439659,2:71184891:G>A,NM_001692.3:c.175-285G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,0.76,\N,\N,ATP6V1B1
439660,2:71184963:G>C,NM_001692.3:c.175-213G>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.966,0.0023,1KG_AFR_AF,ATP6V1B1
439661,2:71184966:G>GT,NM_001692.3:c.175-209dup,\N,\N,2/13,Benign,\N,intron_variant,5.183,0.1059,1KG_AFR_AF,ATP6V1B1
439662,2:71184970:C>G,NM_001692.3:c.175-206C>G,\N,\N,2/13,Benign,\N,intron_variant,8.526,0.0389,1KG_SAS_AF,ATP6V1B1
439663,2:71184978:T>C,NM_001692.3:c.175-198T>C,\N,\N,2/13,Benign,\N,intron_variant,8.07,0.0552,1KG_AFR_AF,ATP6V1B1
439664,2:71184990:G>A,NM_001692.3:c.175-186G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,2.656,\N,\N,ATP6V1B1
439665,2:71185021:A>G,NM_001692.3:c.175-155A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,0.948,0.001,1KG_EAS_AF,ATP6V1B1
439666,2:71185035:A>G,NM_001692.3:c.175-141A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,2.83,0.0008,1KG_AFR_AF,ATP6V1B1
439667,2:71185069:A>G,NM_001692.3:c.175-107A>G,\N,\N,2/13,Unknown significance,\N,intron_variant,1.483,0.001,1KG_EAS_AF,ATP6V1B1
439668,2:71185077:G>A,NM_001692.3:c.175-99G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.774,0.001,1KG_EUR_AF,ATP6V1B1
439669,2:71185086:A>C,NM_001692.3:c.175-90A>C,\N,\N,2/13,Benign,\N,intron_variant,0.047,0.0756,1KG_AFR_AF,ATP6V1B1
439670,2:71185112:G>A,NM_001692.3:c.175-64G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,4.856,0.001,1KG_EAS_AF,ATP6V1B1
439671,2:71185133:C>A,NM_001692.3:c.175-43C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,11.12,0.0000213712,EXAC_NFE_AF,ATP6V1B1
439672,2:71185133:C>T,NM_001692.3:c.175-43C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,10.64,0.000226963,EVS_AA_AF,ATP6V1B1
439673,2:71185142:T>C,NM_001692.3:c.175-34T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,7.998,0.0000418498,EXAC_NFE_AF,ATP6V1B1
439674,2:71185143:C>T,NM_001692.3:c.175-33C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,9.022,0.0000800256,EXAC_SAS_AF,ATP6V1B1
439675,2:71185149:C>G,NM_001692.3:c.175-27C>G,\N,\N,2/13,Unknown significance,\N,intron_variant,7.981,0.0008,1KG_AFR_AF,ATP6V1B1
439676,2:71185151:C>T,NM_001692.3:c.175-25C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,10.07,0.00157233,EXAC_OTH_AF,ATP6V1B1
439677,2:71185152:G>A,NM_001692.3:c.175-24G>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.876,\N,\N,ATP6V1B1
439678,2:71185155:G>T,NM_001692.3:c.175-21G>T,\N,\N,2/13,Unknown significance,\N,intron_variant,5.596,\N,\N,ATP6V1B1
439679,2:71185156:C>A,NM_001692.3:c.175-20C>A,\N,\N,2/13,Unknown significance,\N,intron_variant,6.903,0.0000197605,EXAC_NFE_AF,ATP6V1B1
439680,2:71185160:T>C,NM_001692.3:c.175-16T>C,\N,\N,2/13,Unknown significance,\N,intron_variant,3.261,0.0041,1KG_SAS_AF,ATP6V1B1
439681,2:71185163:C>T,NM_001692.3:c.175-13C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,6.605,0.00142857,EXAC_OTH_AF,ATP6V1B1
439682,2:71185166:C>T,NM_001692.3:c.175-10C>T,\N,\N,2/13,Unknown significance,\N,intron_variant,8.995,0.0008,1KG_AFR_AF,ATP6V1B1
439683,2:71185170:T>G,NM_001692.3:c.175-6T>G,\N,\N,2/13,Unknown significance,\N,splice_region_variant&intron_variant,7.074,0.000356684,EXAC_SAS_AF,ATP6V1B1
439684,2:71185172:C>T,NM_001692.3:c.175-4C>T,\N,\N,2/13,Unknown significance,\N,splice_region_variant&intron_variant,8.772,0.0000168885,EXAC_NFE_AF,ATP6V1B1
439685,2:71185175:G>C,NM_001692.3:c.175-1G>C,\N,\N,2/13,Pathogenic,Renal tubular acidosis| sensorineural deafness,splice_acceptor_variant,24.6,\N,\N,ATP6V1B1
439686,2:71185179:G>C,NM_001692.3:c.178G>C,NP_001683.2:p.Ala60Pro,3/14,\N,Unknown significance,\N,missense_variant,15.02,0.0000162507,EXAC_NFE_AF,ATP6V1B1
439687,2:71185182:C>T,NM_001692.3:c.181C>T,NP_001683.2:p.Gln61Ter,3/14,\N,Unknown significance,\N,stop_gained,37,0.000116279,EVS_EA_AF,ATP6V1B1
439688,2:71185184:G>A,NM_001692.3:c.183G>A,NP_001683.2:p.Gln61=,3/14,\N,Unknown significance,\N,synonymous_variant,7.805,0.001,1KG_EAS_AF,ATP6V1B1
439689,2:71185189:C>T,NM_001692.3:c.188C>T,NP_001683.2:p.Ala63Val,3/14,\N,Unknown significance,\N,missense_variant,26.9,\N,\N,ATP6V1B1
439690,2:71185190:G>A,NM_001692.3:c.189G>A,NP_001683.2:p.Ala63=,3/14,\N,Unknown significance,\N,synonymous_variant,11.84,0.000175254,EXAC_FIN_AF,ATP6V1B1
439691,2:71185196:C>A,NM_001692.3:c.195C>A,NP_001683.2:p.Ile65=,3/14,\N,Unknown significance,\N,synonymous_variant,22.5,0.000117675,EXAC_EAS_AF,ATP6V1B1
439692,2:71185196:C>T,NM_001692.3:c.195C>T,NP_001683.2:p.Ile65=,3/14,\N,Unknown significance,\N,synonymous_variant,18.23,0.000453926,EVS_AA_AF,ATP6V1B1
439693,2:71185197:G>A,NM_001692.3:c.196G>A,NP_001683.2:p.Val66Ile,3/14,\N,Unknown significance,\N,missense_variant,31,0.00118203,EXAC_OTH_AF,ATP6V1B1
439694,2:71185198:T>C,NM_001692.3:c.197T>C,NP_001683.2:p.Val66Ala,3/14,\N,Unknown significance,\N,missense_variant,26.4,0.0000154197,EXAC_NFE_AF,ATP6V1B1
439695,2:71185205:C>T,NM_001692.3:c.204C>T,NP_001683.2:p.Phe68=,3/14,\N,Unknown significance,\N,synonymous_variant,13.41,0.000116279,EVS_EA_AF,ATP6V1B1
439696,2:71185207:C>T,NM_001692.3:c.206C>T,NP_001683.2:p.Thr69Ile,3/14,\N,Unknown significance,\N,missense_variant,25.2,0.0000153107,EXAC_NFE_AF,ATP6V1B1
439697,2:71185215:G>A,NM_001692.3:c.214G>A,NP_001683.2:p.Asp72Asn,3/14,\N,Unknown significance,\N,missense_variant,13.56,0.0000628062,EXAC_SAS_AF,ATP6V1B1
439698,2:71185217:T>C,NM_001692.3:c.216T>C,NP_001683.2:p.Asp72=,3/14,\N,Unknown significance,\N,synonymous_variant,3.133,0.000116279,EVS_EA_AF,ATP6V1B1
439699,2:71185219:G>C,NM_001692.3:c.218G>C,NP_001683.2:p.Gly73Ala,3/14,\N,Unknown significance,\N,missense_variant,26.2,0.0000761661,EXAC_NFE_AF,ATP6V1B1
439700,2:71185223:T>C,NM_001692.3:c.222T>C,NP_001683.2:p.Thr74=,3/14,\N,Unknown significance,\N,synonymous_variant,7.126,0.0000883548,EXAC_AMR_AF,ATP6V1B1
439701,2:71185224:C>T,NM_001692.3:c.223C>T,NP_001683.2:p.Gln75Ter,3/14,\N,Unknown significance,\N,stop_gained,37,0.00114679,EXAC_OTH_AF,ATP6V1B1
439702,2:71185227:A>C,NM_001692.3:c.226A>C,NP_001683.2:p.Arg76=,3/14,\N,Unknown significance,\N,synonymous_variant,1.71,0.000226963,EVS_AA_AF,ATP6V1B1
439703,2:71185229:G>T,NM_001692.3:c.228G>T,NP_001683.2:p.Arg76Ser,3/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,26.1,\N,\N,ATP6V1B1
439704,2:71185232:C>T,NM_001692.3:c.231C>T,NP_001683.2:p.Ser77=,3/14,\N,Unknown significance,\N,synonymous_variant,18.22,0.000453926,EVS_AA_AF,ATP6V1B1
439705,2:71185233:G>A,NM_001692.3:c.232G>A,NP_001683.2:p.Gly78Arg,3/14,\N,Pathogenic,Osteopetrosis with distal RTA,missense_variant,34,0.000299341,EXAC_AFR_AF,ATP6V1B1
439706,2:71185235:G>A,NM_001692.3:c.234G>A,NP_001683.2:p.Gly78=,3/14,\N,Unknown significance,\N,synonymous_variant,10.85,0.0000152207,EXAC_NFE_AF,ATP6V1B1
439707,2:71185236:C>A,NM_001692.3:c.235C>A,NP_001683.2:p.Gln79Lys,3/14,\N,Unknown significance,\N,missense_variant,22.8,0.000226963,EVS_AA_AF,ATP6V1B1
439708,2:71185243:T>C,NM_001692.3:c.242T>C,NP_001683.2:p.Leu81Pro,3/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,27.7,\N,\N,ATP6V1B1
439709,2:71185252:C>CT,NM_001692.3:c.252dup,NP_001683.2:p.Gly85TrpfsTer10,3/14,\N,Unknown significance,\N,frameshift_variant,28.9,0.0000152821,EXAC_NFE_AF,ATP6V1B1
439710,2:71185252:C>T,NM_001692.3:c.251C>T,NP_001683.2:p.Ala84Val,3/14,\N,Likely benign,\N,missense_variant,21.8,0.000376459,EXAC_SAS_AF,ATP6V1B1
439711,2:71185261:A>G,NM_001692.3:c.260A>G,NP_001683.2:p.Lys87Arg,3/14,\N,Unknown significance,\N,missense_variant,18.64,0.0000631154,EXAC_SAS_AF,ATP6V1B1
439712,2:71185265:G>A,NM_001692.3:c.264G>A,NP_001683.2:p.Ala88=,3/14,\N,Likely benign,\N,synonymous_variant,15,0.002331,EXAC_OTH_AF,ATP6V1B1
439713,2:71185274:G>A,NM_001692.3:c.273G>A,NP_001683.2:p.Gln91=,3/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.52,0.0000156289,EXAC_NFE_AF,ATP6V1B1
439714,2:71185281:G>A,NM_001692.3:c.273+7G>A,\N,\N,3/13,Unknown significance,\N,splice_region_variant&intron_variant,8.361,0.0000632951,EXAC_NFE_AF,ATP6V1B1
439715,2:71185283:G>A,NM_001692.3:c.273+9G>A,\N,\N,3/13,Unknown significance,\N,intron_variant,5.221,0.0000642096,EXAC_SAS_AF,ATP6V1B1
439716,2:71185284:G>A,NM_001692.3:c.273+10G>A,\N,\N,3/13,Unknown significance,\N,intron_variant,4.779,0.0000937031,EXAC_AMR_AF,ATP6V1B1
439717,2:71185284:G>C,NM_001692.3:c.273+10G>C,\N,\N,3/13,Unknown significance,\N,intron_variant,1.922,0.0000158443,EXAC_NFE_AF,ATP6V1B1
439718,2:71185288:A>G,NM_001692.3:c.273+14A>G,\N,\N,3/13,Unknown significance,\N,intron_variant,4.732,\N,\N,ATP6V1B1
439719,2:71185296:T>C,NM_001692.3:c.273+22T>C,\N,\N,3/13,Unknown significance,\N,intron_variant,1.622,0.0000651381,EXAC_SAS_AF,ATP6V1B1
439720,2:71185301:T>G,NM_001692.3:c.273+27T>G,\N,\N,3/13,Unknown significance,\N,intron_variant,4.941,0.001,1KG_EAS_AF,ATP6V1B1
439721,2:71185304:T>C,NM_001692.3:c.273+30T>C,\N,\N,3/13,Unknown significance,\N,intron_variant,1.611,0.000108413,EXAC_AFR_AF,ATP6V1B1
439722,2:71185312:A>G,NM_001692.3:c.273+38A>G,\N,\N,3/13,Unknown significance,\N,intron_variant,2.814,0.0000168192,EXAC_NFE_AF,ATP6V1B1
439723,2:71185313:T>C,NM_001692.3:c.273+39T>C,\N,\N,3/13,Unknown significance,\N,intron_variant,3.209,0.0000663218,EXAC_SAS_AF,ATP6V1B1
439724,2:71185314:G>T,NM_001692.3:c.273+40G>T,\N,\N,3/13,Unknown significance,\N,intron_variant,0.756,0.0000339271,EXAC_NFE_AF,ATP6V1B1
439725,2:71185321:C>A,NM_001692.3:c.273+47C>A,\N,\N,3/13,Unknown significance,\N,intron_variant,6.821,0.0000172939,EXAC_NFE_AF,ATP6V1B1
439726,2:71185379:G>A,NM_001692.3:c.274-84G>A,\N,\N,3/13,Unknown significance,\N,intron_variant,9.948,0.0023,1KG_AFR_AF,ATP6V1B1
439727,2:71185387:A>G,NM_001692.3:c.274-76A>G,\N,\N,3/13,Unknown significance,\N,intron_variant,2.694,0.001,1KG_SAS_AF,ATP6V1B1
439728,2:71185391:A>C,NM_001692.3:c.274-72A>C,\N,\N,3/13,Benign,\N,intron_variant,0.662,0.6915,1KG_EAS_AF,ATP6V1B1
439729,2:71185391:A>G,NM_001692.3:c.274-72A>G,\N,\N,3/13,Unknown significance,\N,intron_variant,1.7,0.0008,1KG_AFR_AF,ATP6V1B1
439730,2:71185404:G>A,NM_001692.3:c.274-59G>A,\N,\N,3/13,Unknown significance,\N,intron_variant,6.648,\N,\N,ATP6V1B1
439731,2:71185421:C>A,NM_001692.3:c.274-42C>A,\N,\N,3/13,Unknown significance,\N,intron_variant,5.141,0.000930233,EVS_EA_AF,ATP6V1B1
439732,2:71185423:G>A,NM_001692.3:c.274-40G>A,\N,\N,3/13,Unknown significance,\N,intron_variant,4.517,0.0000150698,EXAC_NFE_AF,ATP6V1B1
439733,2:71185428:C>A,NM_001692.3:c.274-35C>A,\N,\N,3/13,Unknown significance,\N,intron_variant,2.805,0.000116279,EVS_EA_AF,ATP6V1B1
439734,2:71185448:C>T,NM_001692.3:c.274-15C>T,\N,\N,3/13,Unknown significance,\N,intron_variant,6.047,0.000115634,EXAC_EAS_AF,ATP6V1B1
439735,2:71185450:C>T,NM_001692.3:c.274-13C>T,\N,\N,3/13,Unknown significance,\N,intron_variant,10.38,0.000116279,EVS_EA_AF,ATP6V1B1
439736,2:71185454:T>C,NM_001692.3:c.274-9T>C,\N,\N,3/13,Unknown significance,\N,intron_variant,8.441,0.000116279,EVS_EA_AF,ATP6V1B1
439737,2:71185458:C>G,NM_001692.3:c.274-5C>G,\N,\N,3/13,Unknown significance,\N,splice_region_variant&intron_variant,10.44,0.000226963,EVS_AA_AF,ATP6V1B1
439738,2:71185486:C>T,NM_001692.3:c.297C>T,NP_001683.2:p.Ile99=,4/14,\N,Unknown significance,\N,synonymous_variant,16.42,0.001,1KG_EUR_AF,ATP6V1B1
439739,2:71185487:G>A,NM_001692.3:c.298G>A,NP_001683.2:p.Asp100Asn,4/14,\N,Unknown significance,\N,missense_variant,26.1,0.00150254,EXAC_EAS_AF,ATP6V1B1
439740,2:71185490:G>A,NM_001692.3:c.301G>A,NP_001683.2:p.Ala101Thr,4/14,\N,Unknown significance,\N,missense_variant,17.23,0.0000149853,EXAC_NFE_AF,ATP6V1B1
439741,2:71185494:G>A,NM_001692.3:c.305G>A,NP_001683.2:p.Arg102Lys,4/14,\N,Likely benign,\N,missense_variant,4.071,0.001,1KG_EAS_AF,ATP6V1B1
439742,2:71185495:G>C,NM_001692.3:c.306G>C,NP_001683.2:p.Arg102Ser,4/14,\N,Likely benign,\N,missense_variant,18.86,0.00011558,EXAC_EAS_AF,ATP6V1B1
439743,2:71185500:C>A,NM_001692.3:c.311C>A,NP_001683.2:p.Thr104Asn,4/14,\N,Unknown significance,\N,missense_variant,29,0.000060562,EXAC_SAS_AF,ATP6V1B1
439744,2:71185504:T>C,NM_001692.3:c.315T>C,NP_001683.2:p.Thr105=,4/14,\N,Unknown significance,\N,synonymous_variant,4.782,0.0000864006,EXAC_AMR_AF,ATP6V1B1
439745,2:71185506:G>A,NM_001692.3:c.317G>A,NP_001683.2:p.Cys106Tyr,4/14,\N,Unknown significance,\N,missense_variant,27.9,\N,\N,ATP6V1B1
439746,2:71185507:C>T,NM_001692.3:c.318C>T,NP_001683.2:p.Cys106=,4/14,\N,Unknown significance,\N,synonymous_variant,15.81,0.000014988,EXAC_NFE_AF,ATP6V1B1
439747,2:71185508:G>A,NM_001692.3:c.319G>A,NP_001683.2:p.Glu107Lys,4/14,\N,Unknown significance,\N,missense_variant,26.6,0.000119904,EXAC_NFE_AF,ATP6V1B1
439748,2:71185518:G>A,NM_001692.3:c.329G>A,NP_001683.2:p.Gly110Glu,4/14,\N,Unknown significance,\N,missense_variant,29.5,0.0000864304,EXAC_AMR_AF,ATP6V1B1
439749,2:71185520:G>A,NM_001692.3:c.331G>A,NP_001683.2:p.Asp111Asn,4/14,\N,Unknown significance,\N,missense_variant,23.4,0.000096432,EXAC_AFR_AF,ATP6V1B1
439750,2:71185522:C>T,NM_001692.3:c.333C>T,NP_001683.2:p.Asp111=,4/14,\N,Unknown significance,\N,synonymous_variant,14.82,0.0000149952,EXAC_NFE_AF,ATP6V1B1
439751,2:71185524:T>A,NM_001692.3:c.335T>A,NP_001683.2:p.Ile112Asn,4/14,\N,Unknown significance,\N,missense_variant,25.6,0.0000599916,EXAC_NFE_AF,ATP6V1B1
439752,2:71185529:C>T,NM_001692.3:c.340C>T,NP_001683.2:p.Arg114Ter,4/14,\N,Pathogenic,Renal tubular acidosis & hearing loss,stop_gained,41,0.0000150011,EXAC_NFE_AF,ATP6V1B1
439753,2:71185530:G>A,NM_001692.3:c.341G>A,NP_001683.2:p.Arg114Gln,4/14,\N,Unknown significance,\N,missense_variant,24,0.00110619,EXAC_OTH_AF,ATP6V1B1
439754,2:71185534:T>C,NM_001692.3:c.345T>C,NP_001683.2:p.Thr115=,4/14,\N,Unknown significance,\N,synonymous_variant,7.687,0.0000965065,EXAC_AFR_AF,ATP6V1B1
439755,2:71185536:C>T,NM_001692.3:c.347C>T,NP_001683.2:p.Pro116Leu,4/14,\N,Unknown significance,\N,missense_variant,34,0.00221239,EXAC_OTH_AF,ATP6V1B1
439756,2:71185537:G>A,NM_001692.3:c.348G>A,NP_001683.2:p.Pro116=,4/14,\N,Unknown significance,\N,synonymous_variant,14.56,0.00110619,EXAC_OTH_AF,ATP6V1B1
439757,2:71185544:G>A,NM_001692.3:c.355G>A,NP_001683.2:p.Glu119Lys,4/14,\N,Unknown significance,\N,missense_variant,24.1,0.0000150272,EXAC_NFE_AF,ATP6V1B1
439758,2:71185550:A>G,NM_001692.3:c.361A>G,NP_001683.2:p.Met121Val,4/14,\N,Unknown significance,\N,missense_variant,17.89,0.000231374,EXAC_EAS_AF,ATP6V1B1
439759,2:71185551:T>A,NM_001692.3:c.362T>A,NP_001683.2:p.Met121Lys,4/14,\N,Unknown significance,\N,missense_variant,25.3,0.0000300815,EXAC_NFE_AF,ATP6V1B1
439760,2:71185551:T>G,NM_001692.3:c.362T>G,NP_001683.2:p.Met121Arg,4/14,\N,Unknown significance,\N,missense_variant,28.2,0.0000150408,EXAC_NFE_AF,ATP6V1B1
439761,2:71185556:G>T,NM_001692.3:c.367G>T,NP_001683.2:p.Gly123Cys,4/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,31,0.000116306,EVS_EA_AF,ATP6V1B1
439762,2:71185559:G>A,NM_001692.3:c.367+3G>A,\N,\N,4/13,Unknown significance,\N,splice_region_variant&intron_variant,14.24,0.0000150866,EXAC_NFE_AF,ATP6V1B1
439763,2:71185565:C>G,NM_001692.3:c.367+9C>G,\N,\N,4/13,Unknown significance,\N,intron_variant,2.161,0.001,1KG_EAS_AF,ATP6V1B1
439764,2:71185573:G>C,NM_001692.3:c.367+17G>C,\N,\N,4/13,Unknown significance,\N,intron_variant,0.342,0.0008,1KG_AFR_AF,ATP6V1B1
439765,2:71185575:C>A,NM_001692.3:c.367+19C>A,\N,\N,4/13,Unknown significance,\N,intron_variant,0.697,0.0000151501,EXAC_NFE_AF,ATP6V1B1
439766,2:71185578:G>A,NM_001692.3:c.367+22G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,6.211,0.0000151717,EXAC_NFE_AF,ATP6V1B1
439767,2:71185579:G>A,NM_001692.3:c.367+23G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,3.73,0.000116279,EVS_EA_AF,ATP6V1B1
439768,2:71185580:G>A,NM_001692.3:c.367+24G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,1.601,0.000087535,EXAC_AMR_AF,ATP6V1B1
439769,2:71185582:G>T,NM_001692.3:c.367+26G>T,\N,\N,4/13,Unknown significance,\N,intron_variant,0.768,0.000226963,EVS_AA_AF,ATP6V1B1
439770,2:71185586:G>A,NM_001692.3:c.367+30G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,0.345,0.000116279,EVS_EA_AF,ATP6V1B1
439771,2:71185586:G>T,NM_001692.3:c.367+30G>T,\N,\N,4/13,Unknown significance,\N,intron_variant,0.111,0.0000152332,EXAC_NFE_AF,ATP6V1B1
439772,2:71185592:C>T,NM_001692.3:c.367+36C>T,\N,\N,4/13,Unknown significance,\N,intron_variant,6.173,0.0000153318,EXAC_NFE_AF,ATP6V1B1
439773,2:71185596:G>A,NM_001692.3:c.367+40G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,4.854,\N,\N,ATP6V1B1
439774,2:71185598:C>T,NM_001692.3:c.367+42C>T,\N,\N,4/13,Unknown significance,\N,intron_variant,6.767,0.0000154254,EXAC_NFE_AF,ATP6V1B1
439775,2:71185602:C>A,NM_001692.3:c.367+46C>A,\N,\N,4/13,Unknown significance,\N,intron_variant,6.14,0.0008,1KG_AFR_AF,ATP6V1B1
439776,2:71185605:G>A,NM_001692.3:c.367+49G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,4.709,0.0015381,EXAC_EAS_AF,ATP6V1B1
439777,2:71185619:A>T,NM_001692.3:c.367+63A>T,\N,\N,4/13,Unknown significance,\N,intron_variant,7.739,\N,\N,ATP6V1B1
439778,2:71185677:G>A,NM_001692.3:c.367+121G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,3.054,0.001,1KG_EAS_AF,ATP6V1B1
439779,2:71185698:G>A,NM_001692.3:c.367+142G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,3.674,0.0014,1KG_AMR_AF,ATP6V1B1
439780,2:71185763:G>A,NM_001692.3:c.367+207G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,16.88,\N,\N,ATP6V1B1
439781,2:71185856:C>A,NM_001692.3:c.368-292C>A,\N,\N,4/13,Benign,\N,intron_variant,5.086,0.0756,1KG_AFR_AF,ATP6V1B1
439782,2:71185868:C>A,NM_001692.3:c.368-280C>A,\N,\N,4/13,Unknown significance,\N,intron_variant,5.869,\N,\N,ATP6V1B1
439783,2:71185868:C>T,NM_001692.3:c.368-280C>T,\N,\N,4/13,Unknown significance,\N,intron_variant,4.58,\N,\N,ATP6V1B1
439784,2:71185908:A>G,NM_001692.3:c.368-240A>G,\N,\N,4/13,Unknown significance,\N,intron_variant,4.481,\N,\N,ATP6V1B1
439785,2:71185986:C>T,NM_001692.3:c.368-162C>T,\N,\N,4/13,Unknown significance,\N,intron_variant,0.703,\N,\N,ATP6V1B1
439786,2:71185990:T>C,NM_001692.3:c.368-158T>C,\N,\N,4/13,Unknown significance,\N,intron_variant,2.031,\N,\N,ATP6V1B1
439787,2:71186015:G>C,NM_001692.3:c.368-133G>C,\N,\N,4/13,Unknown significance,\N,intron_variant,0.399,\N,\N,ATP6V1B1
439788,2:71186027:G>C,NM_001692.3:c.368-121G>C,\N,\N,4/13,Unknown significance,\N,intron_variant,0.19,0.004,1KG_EAS_AF,ATP6V1B1
439789,2:71186085:A>G,NM_001692.3:c.368-63A>G,\N,\N,4/13,Unknown significance,\N,intron_variant,11.42,\N,\N,ATP6V1B1
439790,2:71186097:G>A,NM_001692.3:c.368-51G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,17.31,0.004,1KG_EAS_AF,ATP6V1B1
439791,2:71186100:A>G,NM_001692.3:c.368-48A>G,\N,\N,4/13,Unknown significance,\N,intron_variant,17.14,0.0000170224,EXAC_NFE_AF,ATP6V1B1
439792,2:71186111:G>A,NM_001692.3:c.368-37G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,19.7,0.000226963,EVS_AA_AF,ATP6V1B1
439793,2:71186112:C>G,NM_001692.3:c.368-36C>G,\N,\N,4/13,Unknown significance,\N,intron_variant,19.67,0.0014,1KG_AMR_AF,ATP6V1B1
439794,2:71186115:G>A,NM_001692.3:c.368-33G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,14.75,0.000201167,EXAC_AMR_AF,ATP6V1B1
439795,2:71186135:C>T,NM_001692.3:c.368-13C>T,\N,\N,4/13,Unknown significance,\N,intron_variant,12.26,0.00001557,EXAC_NFE_AF,ATP6V1B1
439796,2:71186136:G>A,NM_001692.3:c.368-12G>A,\N,\N,4/13,Unknown significance,\N,intron_variant,10.44,0.0014,1KG_AMR_AF,ATP6V1B1
439797,2:71186138:C>A,NM_001692.3:c.368-10C>A,\N,\N,4/13,Unknown significance,\N,intron_variant,12.49,0.000116279,EVS_EA_AF,ATP6V1B1
439798,2:71186142:C>T,NM_001692.3:c.368-6C>T,\N,\N,4/13,Unknown significance,\N,splice_region_variant&intron_variant,7.995,0.00117096,EXAC_OTH_AF,ATP6V1B1
439799,2:71186145:C>T,NM_001692.3:c.368-3C>T,\N,\N,4/13,Unknown significance,\N,splice_region_variant&intron_variant,12.86,0.0000886839,EXAC_AMR_AF,ATP6V1B1
439800,2:71186148:G>T,NM_001692.3:c.368G>T,NP_001683.2:p.Gly123Val,5/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant&splice_region_variant,27.2,\N,\N,ATP6V1B1
439801,2:71186150:C>T,NM_001692.3:c.370C>T,NP_001683.2:p.Arg124Trp,5/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant&splice_region_variant,32,\N,\N,ATP6V1B1
439802,2:71186150:C>A,NM_001692.3:c.370C>A,NP_001683.2:p.Arg124=,5/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,17.4,0.000529381,EXAC_AMR_AF,ATP6V1B1
439803,2:71186157:T>C,NM_001692.3:c.377T>C,NP_001683.2:p.Phe126Ser,5/14,\N,Unknown significance,\N,missense_variant,28.5,0.0000150857,EXAC_NFE_AF,ATP6V1B1
439804,2:71186166:C>T,NM_001692.3:c.386C>T,NP_001683.2:p.Ser129Phe,5/14,\N,Unknown significance,\N,missense_variant,24.5,0.0000150548,EXAC_NFE_AF,ATP6V1B1
439805,2:71186167:C>A,NM_001692.3:c.387C>A,NP_001683.2:p.Ser129=,5/14,\N,Unknown significance,\N,synonymous_variant,19.55,\N,\N,ATP6V1B1
439806,2:71186167:C>T,NM_001692.3:c.387C>T,NP_001683.2:p.Ser129=,5/14,\N,Unknown significance,\N,synonymous_variant,18.29,0.000116279,EVS_EA_AF,ATP6V1B1
439807,2:71186168:G>A,NM_001692.3:c.388G>A,NP_001683.2:p.Gly130Ser,5/14,\N,Unknown significance,\N,missense_variant,25.7,0.0000150512,EXAC_NFE_AF,ATP6V1B1
439808,2:71186178:T>C,NM_001692.3:c.398T>C,NP_001683.2:p.Ile133Thr,5/14,\N,Unknown significance,\N,missense_variant,25.7,0.0000609013,EXAC_SAS_AF,ATP6V1B1
439809,2:71186188:G>A,NM_001692.3:c.408G>A,NP_001683.2:p.Gly136=,5/14,\N,Unknown significance,\N,synonymous_variant,12.5,0.001,1KG_EAS_AF,ATP6V1B1
439810,2:71186193:T>G,NM_001692.3:c.413T>G,NP_001683.2:p.Val138Gly,5/14,\N,Likely benign,\N,missense_variant,11.87,0.0000867303,EXAC_AMR_AF,ATP6V1B1
439811,2:71186194:G>A,NM_001692.3:c.414G>A,NP_001683.2:p.Val138=,5/14,\N,Unknown significance,\N,synonymous_variant,10.63,0.000850443,EXAC_SAS_AF,ATP6V1B1
439812,2:71186199:T>C,NM_001692.3:c.419T>C,NP_001683.2:p.Met140Thr,5/14,\N,Unknown significance,\N,missense_variant,18.79,0.000116279,EVS_EA_AF,ATP6V1B1
439813,2:71186202:C>T,NM_001692.3:c.422C>T,NP_001683.2:p.Ala141Val,5/14,\N,Unknown significance,\N,missense_variant,26.4,0.000231214,EXAC_EAS_AF,ATP6V1B1
439814,2:71186203:G>A,NM_001692.3:c.423G>A,NP_001683.2:p.Ala141=,5/14,\N,Unknown significance,\N,synonymous_variant,16.31,0.00112108,EXAC_OTH_AF,ATP6V1B1
439815,2:71186212:T>C,NM_001692.3:c.432T>C,NP_001683.2:p.Phe144=,5/14,\N,Unknown significance,\N,synonymous_variant,6.665,0.0000962464,EXAC_AFR_AF,ATP6V1B1
439816,2:71186215:G>A,NM_001692.3:c.435G>A,NP_001683.2:p.Leu145=,5/14,\N,Unknown significance,\N,synonymous_variant,10.72,0.00018286,EXAC_SAS_AF,ATP6V1B1
439817,2:71186216:G>T,NM_001692.3:c.436G>T,NP_001683.2:p.Asp146Tyr,5/14,\N,Unknown significance,\N,missense_variant,29.9,0.00028885,EXAC_AFR_AF,ATP6V1B1
439818,2:71186217:A>G,NM_001692.3:c.437A>G,NP_001683.2:p.Asp146Gly,5/14,\N,Unknown significance,\N,missense_variant,29.5,\N,\N,ATP6V1B1
439819,2:71186232:G>C,NM_001692.3:c.445+7G>C,\N,\N,5/13,Unknown significance,\N,splice_region_variant&intron_variant,11.76,0.0000964134,EXAC_AFR_AF,ATP6V1B1
439820,2:71186234:C>G,NM_001692.3:c.445+9C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,16.94,0.0000150793,EXAC_NFE_AF,ATP6V1B1
439821,2:71186238:A>C,NM_001692.3:c.445+13A>C,\N,\N,5/13,Unknown significance,\N,intron_variant,10.51,\N,\N,ATP6V1B1
439822,2:71186239:G>A,NM_001692.3:c.445+14G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,11.36,0.000193536,EXAC_AFR_AF,ATP6V1B1
439823,2:71186254:C>T,NM_001692.3:c.445+29C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,7.435,0.000234632,EXAC_EAS_AF,ATP6V1B1
439824,2:71186255:G>A,NM_001692.3:c.445+30G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,6.011,0.0000455387,EXAC_NFE_AF,ATP6V1B1
439825,2:71186260:C>G,NM_001692.3:c.445+35C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,6.59,0.0000621736,EXAC_SAS_AF,ATP6V1B1
439826,2:71186264:C>T,NM_001692.3:c.445+39C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,7.029,0.000124611,EXAC_SAS_AF,ATP6V1B1
439827,2:71186267:TA>T,NM_001692.3:c.445+44del,\N,\N,5/13,Unknown significance,\N,intron_variant,9.358,0.000177274,EXAC_AMR_AF,ATP6V1B1
439828,2:71186300:G>C,NM_001692.3:c.445+75G>C,\N,\N,5/13,Unknown significance,\N,intron_variant,13.78,\N,\N,ATP6V1B1
439829,2:71186318:A>G,NM_001692.3:c.445+93A>G,\N,\N,5/13,Unknown significance,\N,intron_variant,1.782,\N,\N,ATP6V1B1
439830,2:71186335:C>CA,NM_001692.3:c.445+113dup,\N,\N,5/13,Unknown significance,\N,intron_variant,5.988,0.0045,1KG_AFR_AF,ATP6V1B1
439831,2:71186346:C>G,NM_001692.3:c.445+121C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,9.124,0.0014,1KG_AMR_AF,ATP6V1B1
439832,2:71186373:A>G,NM_001692.3:c.445+148A>G,\N,\N,5/13,Benign,\N,intron_variant,1.755,0.0401,1KG_AFR_AF,ATP6V1B1
439833,2:71186382:G>A,NM_001692.3:c.445+157G>A,\N,\N,5/13,Benign,\N,intron_variant,0.496,0.6518,1KG_EAS_AF,ATP6V1B1
439834,2:71186399:A>G,NM_001692.3:c.445+174A>G,\N,\N,5/13,Unknown significance,\N,intron_variant,4.727,\N,\N,ATP6V1B1
439835,2:71186414:C>T,NM_001692.3:c.445+189C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,9.33,\N,\N,ATP6V1B1
439836,2:71186447:G>C,NM_001692.3:c.445+222G>C,\N,\N,5/13,Unknown significance,\N,intron_variant,1.999,\N,\N,ATP6V1B1
439837,2:71186456:C>G,NM_001692.3:c.445+231C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,1.303,\N,\N,ATP6V1B1
439838,2:71186475:TC>T,NM_001692.3:c.445+252del,\N,\N,5/13,Unknown significance,\N,intron_variant,2.198,\N,\N,ATP6V1B1
439839,2:71186490:T>C,NM_001692.3:c.445+265T>C,\N,\N,5/13,Unknown significance,\N,intron_variant,1.762,0.001,1KG_EAS_AF,ATP6V1B1
439840,2:71186514:C>T,NM_001692.3:c.445+289C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,0.106,0.0023,1KG_AFR_AF,ATP6V1B1
439841,2:71186515:G>A,NM_001692.3:c.445+290G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,0.7,\N,\N,ATP6V1B1
439842,2:71186533:T>G,NM_001692.3:c.445+308T>G,\N,\N,5/13,Unknown significance,\N,intron_variant,1.082,0.0014,1KG_AMR_AF,ATP6V1B1
439843,2:71186573:T>C,NM_001692.3:c.445+348T>C,\N,\N,5/13,Unknown significance,\N,intron_variant,1.321,\N,\N,ATP6V1B1
439844,2:71186607:G>A,NM_001692.3:c.445+382G>A,\N,\N,5/13,Benign,\N,intron_variant,0.07,0.0068,1KG_AFR_AF,ATP6V1B1
439845,2:71186628:A>G,NM_001692.3:c.445+403A>G,\N,\N,5/13,Unknown significance,\N,intron_variant,2.153,\N,\N,ATP6V1B1
439846,2:71186630:A>T,NM_001692.3:c.445+405A>T,\N,\N,5/13,Unknown significance,\N,intron_variant,0.247,0.002,1KG_EAS_AF,ATP6V1B1
439847,2:71186715:C>G,NM_001692.3:c.446-354C>G,\N,\N,5/13,Benign,\N,intron_variant,2.902,0.0149,1KG_EUR_AF,ATP6V1B1
439848,2:71186752:T>C,NM_001692.3:c.446-317T>C,\N,\N,5/13,Unknown significance,\N,intron_variant,0.055,\N,\N,ATP6V1B1
439849,2:71186801:G>A,NM_001692.3:c.446-268G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,2.042,0.001,1KG_EUR_AF,ATP6V1B1
439850,2:71186823:C>G,NM_001692.3:c.446-246C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,4.249,0.001,1KG_EAS_AF,ATP6V1B1
439851,2:71186903:T>C,NM_001692.3:c.446-166T>C,\N,\N,5/13,Unknown significance,\N,intron_variant,0.974,\N,\N,ATP6V1B1
439852,2:71186913:T>C,NM_001692.3:c.446-156T>C,\N,\N,5/13,Benign,\N,intron_variant,0.865,0.0109,1KG_EAS_AF,ATP6V1B1
439853,2:71186938:G>A,NM_001692.3:c.446-131G>A,\N,\N,5/13,Benign,\N,intron_variant,5.906,0.0069,1KG_EAS_AF,ATP6V1B1
439854,2:71186955:A>G,NM_001692.3:c.446-114A>G,\N,\N,5/13,Unknown significance,\N,intron_variant,3.149,0.0014,1KG_AMR_AF,ATP6V1B1
439855,2:71186962:CA>C,NM_001692.3:c.446-106del,\N,\N,5/13,Benign,\N,intron_variant,3.034,0.0417,1KG_EAS_AF,ATP6V1B1
439856,2:71186973:G>A,NM_001692.3:c.446-96G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,0.579,\N,\N,ATP6V1B1
439857,2:71186984:C>T,NM_001692.3:c.446-85C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,3.329,0.0023,1KG_AFR_AF,ATP6V1B1
439858,2:71186985:G>A,NM_001692.3:c.446-84G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,2.143,0.0008,1KG_AFR_AF,ATP6V1B1
439859,2:71187009:C>T,NM_001692.3:c.446-60C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,0.172,0.0008,1KG_AFR_AF,ATP6V1B1
439860,2:71187015:G>T,NM_001692.3:c.446-54G>T,\N,\N,5/13,Unknown significance,\N,intron_variant,5.063,0.001,1KG_EAS_AF,ATP6V1B1
439861,2:71187020:G>C,NM_001692.3:c.446-49G>C,\N,\N,5/13,Unknown significance,\N,intron_variant,11.93,0.0000301559,EXAC_NFE_AF,ATP6V1B1
439862,2:71187021:G>A,NM_001692.3:c.446-48G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,13.78,0.0000301523,EXAC_NFE_AF,ATP6V1B1
439863,2:71187022:G>C,NM_001692.3:c.446-47G>C,\N,\N,5/13,Unknown significance,\N,intron_variant,12.04,0.00222222,EXAC_OTH_AF,ATP6V1B1
439864,2:71187034:C>A,NM_001692.3:c.446-35C>A,\N,\N,5/13,Unknown significance,\N,intron_variant,13.47,0.0000605987,EXAC_SAS_AF,ATP6V1B1
439865,2:71187034:C>G,NM_001692.3:c.446-35C>G,\N,\N,5/13,Unknown significance,\N,intron_variant,12.17,0.002,1KG_SAS_AF,ATP6V1B1
439866,2:71187035:C>T,NM_001692.3:c.446-34C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,14.19,0.0000150661,EXAC_NFE_AF,ATP6V1B1
439867,2:71187036:C>T,NM_001692.3:c.446-33C>T,\N,\N,5/13,Unknown significance,\N,intron_variant,14.16,\N,\N,ATP6V1B1
439868,2:71187043:A>G,NM_001692.3:c.446-26A>G,\N,\N,5/13,Unknown significance,\N,intron_variant,10.64,0.00017304,EXAC_AMR_AF,ATP6V1B1
439869,2:71187051:G>A,NM_001692.3:c.446-18G>A,\N,\N,5/13,Unknown significance,\N,intron_variant,3.504,0.000226963,EVS_AA_AF,ATP6V1B1
439870,2:71187052:T>TG,NM_001692.3:c.446-16dup,\N,\N,5/13,Unknown significance,\N,intron_variant,3.29,0.0000605987,EXAC_SAS_AF,ATP6V1B1
439871,2:71187084:C>T,NM_001692.3:c.461C>T,NP_001683.2:p.Pro154Leu,6/14,\N,Unknown significance,\N,missense_variant,34,0.0000864603,EXAC_AMR_AF,ATP6V1B1
439872,2:71187092:C>T,NM_001692.3:c.469C>T,NP_001683.2:p.Arg157Cys,6/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,35,0.0000450586,EXAC_NFE_AF,ATP6V1B1
439873,2:71187093:G>A,NM_001692.3:c.470G>A,NP_001683.2:p.Arg157His,6/14,\N,Unknown significance,\N,missense_variant,33,0.001,1KG_SAS_AF,ATP6V1B1
439874,2:71187100:C>T,NM_001692.3:c.477C>T,NP_001683.2:p.Tyr159=,6/14,\N,Unknown significance,\N,synonymous_variant,10.2,0.0000150123,EXAC_NFE_AF,ATP6V1B1
439875,2:71187103:C>T,NM_001692.3:c.480C>T,NP_001683.2:p.Pro160=,6/14,\N,Unknown significance,\N,synonymous_variant,12.89,0.000810185,EXAC_EAS_AF,ATP6V1B1
439876,2:71187104:G>A,NM_001692.3:c.481G>A,NP_001683.2:p.Glu161Lys,6/14,\N,Benign,\N,missense_variant,23.3,0.0695,1KG_SAS_AF,ATP6V1B1
439877,2:71187117:A>G,NM_001692.3:c.494A>G,NP_001683.2:p.Gln165Arg,6/14,\N,Unknown significance,\N,missense_variant,18.52,0.000226963,EVS_AA_AF,ATP6V1B1
439878,2:71187119:AC>A,NM_001692.3:c.497del,NP_001683.2:p.Thr166ArgfsTer9,6/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,frameshift_variant,34,\N,\N,ATP6V1B1
439879,2:71187120:C>T,NM_001692.3:c.497C>T,NP_001683.2:p.Thr166Met,6/14,\N,Unknown significance,\N,missense_variant,32,0.000121139,EXAC_SAS_AF,ATP6V1B1
439880,2:71187131:C>A,NM_001692.3:c.508C>A,NP_001683.2:p.Pro170Thr,6/14,\N,Unknown significance,\N,missense_variant,13.88,0.000060562,EXAC_SAS_AF,ATP6V1B1
439881,2:71187134:A>G,NM_001692.3:c.511A>G,NP_001683.2:p.Ile171Val,6/14,\N,Unknown significance,\N,missense_variant,24.8,0.0000300111,EXAC_NFE_AF,ATP6V1B1
439882,2:71187135:T>C,NM_001692.3:c.512T>C,NP_001683.2:p.Ile171Thr,6/14,\N,Unknown significance,\N,missense_variant,25,0.0000964134,EXAC_AFR_AF,ATP6V1B1
439883,2:71187139:C>T,NM_001692.3:c.516C>T,NP_001683.2:p.Asp172=,6/14,\N,Unknown significance,\N,synonymous_variant,12.71,0.000231374,EXAC_EAS_AF,ATP6V1B1
439884,2:71187140:G>A,NM_001692.3:c.517G>A,NP_001683.2:p.Val173Ile,6/14,\N,Likely benign,\N,missense_variant,13.65,0.0015,1KG_AFR_AF,ATP6V1B1
439885,2:71187144:T>G,NM_001692.3:c.521T>G,NP_001683.2:p.Met174Arg,6/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,26.5,\N,\N,ATP6V1B1
439886,2:71187146:A>C,NM_001692.3:c.523A>C,NP_001683.2:p.Asn175His,6/14,\N,Unknown significance,\N,missense_variant,24.8,0.001,1KG_EUR_AF,ATP6V1B1
439887,2:71187151:C>T,NM_001692.3:c.528C>T,NP_001683.2:p.Ser176=,6/14,\N,Unknown significance,\N,synonymous_variant,13.31,0.000116279,EVS_EA_AF,ATP6V1B1
439888,2:71187159:G>A,NM_001692.3:c.536G>A,NP_001683.2:p.Arg179His,6/14,\N,Unknown significance,\N,missense_variant,33,0.000226963,EVS_AA_AF,ATP6V1B1
439889,2:71187160:C>G,NM_001692.3:c.537C>G,NP_001683.2:p.Arg179=,6/14,\N,Unknown significance,\N,synonymous_variant,10.9,\N,\N,ATP6V1B1
439890,2:71187160:C>T,NM_001692.3:c.537C>T,NP_001683.2:p.Arg179=,6/14,\N,Unknown significance,\N,synonymous_variant,12.77,0.00110619,EXAC_OTH_AF,ATP6V1B1
439891,2:71187161:G>A,NM_001692.3:c.538G>A,NP_001683.2:p.Gly180Ser,6/14,\N,Unknown significance,\N,missense_variant,31,0.000151194,EXAC_FIN_AF,ATP6V1B1
439892,2:71187161:G>T,NM_001692.3:c.538G>T,NP_001683.2:p.Gly180Cys,6/14,\N,Unknown significance,\N,missense_variant,31,\N,\N,ATP6V1B1
439893,2:71187162:G>C,NM_001692.3:c.539G>C,NP_001683.2:p.Gly180Ala,6/14,\N,Unknown significance,\N,missense_variant,25.1,0.0000150146,EXAC_NFE_AF,ATP6V1B1
439894,2:71187190:C>T,NM_001692.3:c.567C>T,NP_001683.2:p.Ala189=,6/14,\N,Unknown significance,\N,synonymous_variant,18.62,0.0008,1KG_AFR_AF,ATP6V1B1
439895,2:71187200:C>G,NM_001692.3:c.577C>G,NP_001683.2:p.His193Asp,6/14,\N,Unknown significance,\N,missense_variant,28.5,0.0000606355,EXAC_SAS_AF,ATP6V1B1
439896,2:71187205:T>C,NM_001692.3:c.582T>C,NP_001683.2:p.Asn194=,6/14,\N,Unknown significance,\N,synonymous_variant,3.014,0.000232558,EVS_EA_AF,ATP6V1B1
439897,2:71187206:G>A,NM_001692.3:c.583G>A,NP_001683.2:p.Glu195Lys,6/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.3,0.000015103,EXAC_NFE_AF,ATP6V1B1
439898,2:71187209:G>A,NM_001692.3:c.585+1G>A,\N,\N,6/13,Pathogenic,Renal tubular acidosis| sensorineural deafness,splice_donor_variant,25.7,0.0000151158,EXAC_NFE_AF,ATP6V1B1
439899,2:71187209:G>T,NM_001692.3:c.585+1G>T,\N,\N,6/13,Unknown significance,\N,splice_donor_variant,25,0.00111607,EXAC_OTH_AF,ATP6V1B1
439900,2:71187215:C>G,NM_001692.3:c.585+7C>G,\N,\N,6/13,Unknown significance,\N,splice_region_variant&intron_variant,10.1,0.000453926,EVS_AA_AF,ATP6V1B1
439901,2:71187218:G>A,NM_001692.3:c.585+10G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,12.78,0.0000608199,EXAC_SAS_AF,ATP6V1B1
439902,2:71187222:G>C,NM_001692.3:c.585+14G>C,\N,\N,6/13,Unknown significance,\N,intron_variant,2.655,0.0000151699,EXAC_NFE_AF,ATP6V1B1
439903,2:71187233:A>G,NM_001692.3:c.585+25A>G,\N,\N,6/13,Unknown significance,\N,intron_variant,4.064,0.0000152151,EXAC_NFE_AF,ATP6V1B1
439904,2:71187235:G>A,NM_001692.3:c.585+27G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,1.193,0.0000869112,EXAC_AMR_AF,ATP6V1B1
439905,2:71187237:C>T,NM_001692.3:c.585+29C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,3.485,0.000116279,EVS_EA_AF,ATP6V1B1
439906,2:71187245:G>A,NM_001692.3:c.585+37G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,3.612,0.002,1KG_EUR_AF,ATP6V1B1
439907,2:71187252:A>T,NM_001692.3:c.585+44A>T,\N,\N,6/13,Unknown significance,\N,intron_variant,1.523,\N,\N,ATP6V1B1
439908,2:71187261:T>C,NM_001692.3:c.585+53T>C,\N,\N,6/13,Unknown significance,\N,intron_variant,1.002,0.001,1KG_SAS_AF,ATP6V1B1
439909,2:71187322:G>T,NM_001692.3:c.585+114G>T,\N,\N,6/13,Unknown significance,\N,intron_variant,1.172,0.001,1KG_EAS_AF,ATP6V1B1
439910,2:71187327:G>A,NM_001692.3:c.585+119G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,0.726,0.0015,1KG_AFR_AF,ATP6V1B1
439911,2:71187425:C>G,NM_001692.3:c.585+217C>G,\N,\N,6/13,Unknown significance,\N,intron_variant,1.644,\N,\N,ATP6V1B1
439912,2:71187439:C>T,NM_001692.3:c.585+231C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,2.854,0.0014,1KG_AMR_AF,ATP6V1B1
439913,2:71187459:G>A,NM_001692.3:c.585+251G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,3.747,0.001,1KG_EAS_AF,ATP6V1B1
439914,2:71187473:A>ACCC,NM_001692.3:c.585+266_585+267insCCC,\N,\N,6/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
439915,2:71187488:A>G,NM_001692.3:c.585+280A>G,\N,\N,6/13,Unknown significance,\N,intron_variant,4.482,\N,\N,ATP6V1B1
439916,2:71187490:C>A,NM_001692.3:c.585+282C>A,\N,\N,6/13,Unknown significance,\N,intron_variant,3.676,0.0014,1KG_AMR_AF,ATP6V1B1
439917,2:71187549:C>T,NM_001692.3:c.585+341C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,6.86,0.001,1KG_EUR_AF,ATP6V1B1
439918,2:71187553:T>C,NM_001692.3:c.585+345T>C,\N,\N,6/13,Unknown significance,\N,intron_variant,1.062,0.0043,1KG_AMR_AF,ATP6V1B1
439919,2:71187564:C>G,NM_001692.3:c.585+356C>G,\N,\N,6/13,Unknown significance,\N,intron_variant,4.13,0.001,1KG_EAS_AF,ATP6V1B1
439920,2:71187574:G>A,NM_001692.3:c.585+366G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,2.185,0.001,1KG_EUR_AF,ATP6V1B1
439921,2:71187576:C>G,NM_001692.3:c.585+368C>G,\N,\N,6/13,Unknown significance,\N,intron_variant,3.681,\N,\N,ATP6V1B1
439922,2:71187611:C>G,NM_001692.3:c.585+403C>G,\N,\N,6/13,Benign,\N,intron_variant,3.285,0.0051,1KG_SAS_AF,ATP6V1B1
439923,2:71187630:C>T,NM_001692.3:c.586-421C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,5.584,0.003,1KG_EUR_AF,ATP6V1B1
439924,2:71187674:T>G,NM_001692.3:c.586-377T>G,\N,\N,6/13,Unknown significance,\N,intron_variant,0.428,0.001,1KG_EAS_AF,ATP6V1B1
439925,2:71187680:C>T,NM_001692.3:c.586-371C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,5.353,\N,\N,ATP6V1B1
439926,2:71187731:A>C,NM_001692.3:c.586-320A>C,\N,\N,6/13,Unknown significance,\N,intron_variant,0.987,\N,\N,ATP6V1B1
439927,2:71187750:G>A,NM_001692.3:c.586-301G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,0.238,\N,\N,ATP6V1B1
439928,2:71187760:G>A,NM_001692.3:c.586-291G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,4.468,\N,\N,ATP6V1B1
439929,2:71187774:A>G,NM_001692.3:c.586-277A>G,\N,\N,6/13,Unknown significance,\N,intron_variant,2.061,0.001,1KG_SAS_AF,ATP6V1B1
439930,2:71187793:A>T,NM_001692.3:c.586-258A>T,\N,\N,6/13,Unknown significance,\N,intron_variant,1.698,\N,\N,ATP6V1B1
439931,2:71187854:G>A,NM_001692.3:c.586-197G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,2.09,0.0023,1KG_AFR_AF,ATP6V1B1
439932,2:71187889:T>C,NM_001692.3:c.586-162T>C,\N,\N,6/13,Unknown significance,\N,intron_variant,0.431,0.0023,1KG_AFR_AF,ATP6V1B1
439933,2:71187909:A>C,NM_001692.3:c.586-142A>C,\N,\N,6/13,Unknown significance,\N,intron_variant,8.407,0.0015,1KG_AFR_AF,ATP6V1B1
439934,2:71187911:G>A,NM_001692.3:c.586-140G>A,\N,\N,6/13,Benign,\N,intron_variant,11.83,0.6538,1KG_EAS_AF,ATP6V1B1
439935,2:71187916:A>T,NM_001692.3:c.586-135A>T,\N,\N,6/13,Unknown significance,\N,intron_variant,8.615,0.0023,1KG_AFR_AF,ATP6V1B1
439936,2:71188000:A>G,NM_001692.3:c.586-51A>G,\N,\N,6/13,Unknown significance,\N,intron_variant,1.204,0.000111408,EXAC_SAS_AF,ATP6V1B1
439937,2:71188004:G>T,NM_001692.3:c.586-47G>T,\N,\N,6/13,Benign,\N,intron_variant,0.232,0.0913008,EXAC_AFR_AF,ATP6V1B1
439938,2:71188011:C>T,NM_001692.3:c.586-40C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,6.222,\N,\N,ATP6V1B1
439939,2:71188012:C>T,NM_001692.3:c.586-39C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,6.296,0.000405351,EXAC_AFR_AF,ATP6V1B1
439940,2:71188013:G>A,NM_001692.3:c.586-38G>A,\N,\N,6/13,Benign,\N,intron_variant,1.063,0.0636827,EXAC_EAS_AF,ATP6V1B1
439941,2:71188021:C>T,NM_001692.3:c.586-30C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,7.892,0.00104312,EXAC_FIN_AF,ATP6V1B1
439942,2:71188022:G>A,NM_001692.3:c.586-29G>A,\N,\N,6/13,Unknown significance,\N,intron_variant,1.896,0.000336927,EXAC_EAS_AF,ATP6V1B1
439943,2:71188036:T>A,NM_001692.3:c.586-15T>A,\N,\N,6/13,Unknown significance,\N,intron_variant,6.967,\N,\N,ATP6V1B1
439944,2:71188040:C>T,NM_001692.3:c.586-11C>T,\N,\N,6/13,Unknown significance,\N,intron_variant,6.303,0.000704631,EXAC_NFE_AF,ATP6V1B1
439945,2:71188044:G>A,NM_001692.3:c.586-7G>A,\N,\N,6/13,Unknown significance,\N,splice_region_variant&intron_variant,1.071,0.0000310174,EXAC_NFE_AF,ATP6V1B1
439946,2:71188056:C>T,NM_001692.3:c.591C>T,NP_001683.2:p.Ala197=,7/14,\N,Unknown significance,\N,synonymous_variant,17.87,0.0014,1KG_AMR_AF,ATP6V1B1
439947,2:71188057:G>A,NM_001692.3:c.592G>A,NP_001683.2:p.Ala198Thr,7/14,\N,Unknown significance,\N,missense_variant,32,0.000217014,EXAC_EAS_AF,ATP6V1B1
439948,2:71188064:T>C,NM_001692.3:c.599T>C,NP_001683.2:p.Ile200Thr,7/14,\N,Pathogenic,Deafness,missense_variant,28.1,0.000200884,EXAC_EAS_AF,ATP6V1B1
439949,2:71188069:C>T,NM_001692.3:c.604C>T,NP_001683.2:p.Arg202Cys,7/14,\N,Unknown significance,\N,missense_variant,35,\N,\N,ATP6V1B1
439950,2:71188070:G>A,NM_001692.3:c.605G>A,NP_001683.2:p.Arg202His,7/14,\N,Unknown significance,\N,missense_variant,34,0.00015193,EXAC_AFR_AF,ATP6V1B1
439951,2:71188077:G>A,NM_001692.3:c.612G>A,NP_001683.2:p.Ala204=,7/14,\N,Unknown significance,\N,synonymous_variant,15.7,0.000985804,EXAC_EAS_AF,ATP6V1B1
439952,2:71188085:T>G,NM_001692.3:c.620T>G,NP_001683.2:p.Val207Gly,7/14,\N,Unknown significance,\N,missense_variant,24.9,\N,\N,ATP6V1B1
439953,2:71188096:A>G,NM_001692.3:c.631A>G,NP_001683.2:p.Lys211Glu,7/14,\N,Unknown significance,\N,missense_variant,23,0.001,1KG_EUR_AF,ATP6V1B1
439954,2:71188114:C>T,NM_001692.3:c.649C>T,NP_001683.2:p.His217Tyr,7/14,\N,Unknown significance,\N,missense_variant,22.4,0.0000601034,EXAC_NFE_AF,ATP6V1B1
439955,2:71188116:T>G,NM_001692.3:c.651T>G,NP_001683.2:p.His217Gln,7/14,\N,Likely benign,\N,missense_variant,0.004,0.00061207,EXAC_NFE_AF,ATP6V1B1
439956,2:71188119:C>T,NM_001692.3:c.654C>T,NP_001683.2:p.Asp218=,7/14,\N,Benign,\N,synonymous_variant,12.03,0.12884,EXAC_AFR_AF,ATP6V1B1
439957,2:71188120:G>A,NM_001692.3:c.655G>A,NP_001683.2:p.Asp219Asn,7/14,\N,Unknown significance,\N,missense_variant,29.7,0.00023596,EXAC_AMR_AF,ATP6V1B1
439958,2:71188128:C>T,NM_001692.3:c.663C>T,NP_001683.2:p.Phe221=,7/14,\N,Unknown significance,\N,synonymous_variant,15.04,0.001,1KG_EAS_AF|1KG_EUR_AF,ATP6V1B1
439959,2:71188128:CGCCATCGTCTTTGCA>C,NM_001692.3:c.669_683del,NP_001683.2:p.Ile223_Ala227del,7/14,\N,Pathogenic,Renal tubular acidosis & hearing loss,inframe_deletion,21.2,\N,\N,ATP6V1B1
439960,2:71188129:G>A,NM_001692.3:c.664G>A,NP_001683.2:p.Ala222Thr,7/14,\N,Unknown significance,\N,missense_variant,32,0.000277162,EXAC_AMR_AF,ATP6V1B1
439961,2:71188134:C>T,NM_001692.3:c.669C>T,NP_001683.2:p.Ile223=,7/14,\N,Unknown significance,\N,synonymous_variant,16.47,0.00119048,EXAC_AFR_AF,ATP6V1B1
439962,2:71188135:G>A,NM_001692.3:c.670G>A,NP_001683.2:p.Val224Ile,7/14,\N,Unknown significance,\N,missense_variant,23.6,0.002,1KG_SAS_AF,ATP6V1B1
439963,2:71188135:G>T,NM_001692.3:c.670G>T,NP_001683.2:p.Val224Phe,7/14,\N,Unknown significance,\N,missense_variant,33,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,ATP6V1B1
439964,2:71188143:A>T,NM_001692.3:c.678A>T,NP_001683.2:p.Ala226=,7/14,\N,Unknown significance,\N,synonymous_variant,8.572,\N,\N,ATP6V1B1
439965,2:71188147:A>G,NM_001692.3:c.682A>G,NP_001683.2:p.Met228Val,7/14,\N,Unknown significance,\N,missense_variant,25.7,\N,\N,ATP6V1B1
439966,2:71188148:T>C,NM_001692.3:c.683T>C,NP_001683.2:p.Met228Thr,7/14,\N,Unknown significance,\N,missense_variant,26.4,0.0000458674,EXAC_NFE_AF,ATP6V1B1
439967,2:71188152:G>A,NM_001692.3:c.687G>A,NP_001683.2:p.Gly229=,7/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.37,0.000237192,EXAC_AFR_AF,ATP6V1B1
439968,2:71188152:G>T,NM_001692.3:c.687G>T,NP_001683.2:p.Gly229=,7/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.95,0.001,1KG_EAS_AF,ATP6V1B1
439969,2:71188153:G>T,NM_001692.3:c.687+1G>T,\N,\N,7/13,Pathogenic,Renal tubular acidosis| sensorineural deafness,splice_donor_variant,25.3,\N,\N,ATP6V1B1
439970,2:71188171:C>T,NM_001692.3:c.687+19C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,4.965,0.000227376,EVS_AA_AF,ATP6V1B1
439971,2:71188173:G>A,NM_001692.3:c.687+21G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,4.983,\N,\N,ATP6V1B1
439972,2:71188175:C>T,NM_001692.3:c.687+23C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,6.709,\N,\N,ATP6V1B1
439973,2:71188181:C>T,NM_001692.3:c.687+29C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,7.349,0.00153846,EXAC_AMR_AF,ATP6V1B1
439974,2:71188182:T>A,NM_001692.3:c.687+30T>A,\N,\N,7/13,Unknown significance,\N,intron_variant,4.672,\N,\N,ATP6V1B1
439975,2:71188186:G>A,NM_001692.3:c.687+34G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,3.9,\N,\N,ATP6V1B1
439976,2:71188207:C>T,NM_001692.3:c.687+55C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,14.89,0.000104712,EXAC_NFE_AF,ATP6V1B1
439977,2:71188212:T>C,NM_001692.3:c.687+60T>C,\N,\N,7/13,Unknown significance,\N,intron_variant,12.39,0.000350385,EXAC_AFR_AF,ATP6V1B1
439978,2:71188218:C>T,NM_001692.3:c.687+66C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,14.38,0.00010686,EXAC_NFE_AF,ATP6V1B1
439979,2:71188228:C>A,NM_001692.3:c.687+76C>A,\N,\N,7/13,Unknown significance,\N,intron_variant,7.38,0.001,1KG_EAS_AF,ATP6V1B1
439980,2:71188240:G>C,NM_001692.3:c.687+88G>C,\N,\N,7/13,Unknown significance,\N,intron_variant,2.616,0.0008,1KG_AFR_AF,ATP6V1B1
439981,2:71188246:C>G,NM_001692.3:c.687+94C>G,\N,\N,7/13,Unknown significance,\N,intron_variant,4.501,0.001,1KG_EAS_AF,ATP6V1B1
439982,2:71188266:C>T,NM_001692.3:c.687+114C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,5.299,\N,\N,ATP6V1B1
439983,2:71188289:G>A,NM_001692.3:c.687+137G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,9.261,0.001,1KG_EAS_AF,ATP6V1B1
439984,2:71188296:C>T,NM_001692.3:c.687+144C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,3.533,0.0014,1KG_AMR_AF,ATP6V1B1
439985,2:71188304:T>C,NM_001692.3:c.687+152T>C,\N,\N,7/13,Unknown significance,\N,intron_variant,3.987,\N,\N,ATP6V1B1
439986,2:71188315:G>A,NM_001692.3:c.687+163G>A,\N,\N,7/13,Benign,\N,intron_variant,2.964,0.6538,1KG_EAS_AF,ATP6V1B1
439987,2:71188318:T>C,NM_001692.3:c.687+166T>C,\N,\N,7/13,Unknown significance,\N,intron_variant,3.843,\N,\N,ATP6V1B1
439988,2:71188354:G>A,NM_001692.3:c.687+202G>A,\N,\N,7/13,Benign,\N,intron_variant,14.16,0.0208,1KG_EAS_AF,ATP6V1B1
439989,2:71188369:G>A,NM_001692.3:c.687+217G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,17.77,0.001,1KG_EAS_AF,ATP6V1B1
439990,2:71188383:TG>T,NM_001692.3:c.687+236del,\N,\N,7/13,Benign,\N,intron_variant,9.832,0.1483,1KG_AFR_AF,ATP6V1B1
439991,2:71188385:G>C,NM_001692.3:c.687+233G>C,\N,\N,7/13,Unknown significance,\N,intron_variant,6.754,\N,\N,ATP6V1B1
439992,2:71188388:GA>G,NM_001692.3:c.687+242del,\N,\N,7/13,Unknown significance,\N,intron_variant,3.611,0.002,1KG_EUR_AF,ATP6V1B1
439993,2:71188409:C>T,NM_001692.3:c.687+257C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,8.979,\N,\N,ATP6V1B1
439994,2:71188424:G>A,NM_001692.3:c.687+272G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,0.266,\N,\N,ATP6V1B1
439995,2:71188442:G>A,NM_001692.3:c.688-284G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,3.971,0.0014,1KG_AMR_AF,ATP6V1B1
439996,2:71188453:C>T,NM_001692.3:c.688-273C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,2.914,\N,\N,ATP6V1B1
439997,2:71188461:G>C,NM_001692.3:c.688-265G>C,\N,\N,7/13,Benign,\N,intron_variant,1.846,0.6538,1KG_EAS_AF,ATP6V1B1
439998,2:71188462:G>A,NM_001692.3:c.688-264G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,3.859,\N,\N,ATP6V1B1
439999,2:71188476:C>A,NM_001692.3:c.688-250C>A,\N,\N,7/13,Unknown significance,\N,intron_variant,8.701,0.002,1KG_EAS_AF,ATP6V1B1
440000,2:71188526:C>T,NM_001692.3:c.688-200C>T,\N,\N,7/13,Benign,\N,intron_variant,3.811,0.0061,1KG_AFR_AF,ATP6V1B1
440001,2:71188536:T>G,NM_001692.3:c.688-190T>G,\N,\N,7/13,Unknown significance,\N,intron_variant,0.27,0.001,1KG_EUR_AF,ATP6V1B1
440002,2:71188544:G>A,NM_001692.3:c.688-182G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,5.664,\N,\N,ATP6V1B1
440003,2:71188574:A>C,NM_001692.3:c.688-152A>C,\N,\N,7/13,Unknown significance,\N,intron_variant,4.119,0.0008,1KG_AFR_AF,ATP6V1B1
440004,2:71188579:C>T,NM_001692.3:c.688-147C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,3.528,\N,\N,ATP6V1B1
440005,2:71188587:C>T,NM_001692.3:c.688-139C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,3.137,\N,\N,ATP6V1B1
440006,2:71188611:C>T,NM_001692.3:c.688-115C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,4.987,0.001,1KG_EAS_AF,ATP6V1B1
440007,2:71188612:C>A,NM_001692.3:c.688-114C>A,\N,\N,7/13,Unknown significance,\N,intron_variant,2.48,0.0041,1KG_SAS_AF,ATP6V1B1
440008,2:71188614:A>G,NM_001692.3:c.688-112A>G,\N,\N,7/13,Unknown significance,\N,intron_variant,3.434,0.0008,1KG_AFR_AF,ATP6V1B1
440009,2:71188617:G>A,NM_001692.3:c.688-109G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,0.376,0.001,1KG_EAS_AF,ATP6V1B1
440010,2:71188658:T>C,NM_001692.3:c.688-68T>C,\N,\N,7/13,Benign,\N,intron_variant,4.606,0.0053,1KG_AFR_AF,ATP6V1B1
440011,2:71188663:G>A,NM_001692.3:c.688-63G>A,\N,\N,7/13,Benign,\N,intron_variant,8.582,0.0053,1KG_AFR_AF,ATP6V1B1
440012,2:71188684:G>A,NM_001692.3:c.688-42G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,5.366,0.0000864753,EXAC_AMR_AF,ATP6V1B1
440013,2:71188685:C>T,NM_001692.3:c.688-41C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,4.317,0.000116279,EVS_EA_AF,ATP6V1B1
440014,2:71188692:G>A,NM_001692.3:c.688-34G>A,\N,\N,7/13,Unknown significance,\N,intron_variant,1.729,0.000116279,EVS_EA_AF,ATP6V1B1
440015,2:71188696:T>C,NM_001692.3:c.688-30T>C,\N,\N,7/13,Unknown significance,\N,intron_variant,1.022,0.001,1KG_SAS_AF,ATP6V1B1
440016,2:71188705:C>G,NM_001692.3:c.688-21C>G,\N,\N,7/13,Unknown significance,\N,intron_variant,10.17,0.0000864155,EXAC_AMR_AF,ATP6V1B1
440017,2:71188708:AC>A,NM_001692.3:c.688-15del,\N,\N,7/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
440018,2:71188711:C>T,NM_001692.3:c.688-15C>T,\N,\N,7/13,Unknown significance,\N,intron_variant,10.84,\N,\N,ATP6V1B1
440019,2:71188719:T>C,NM_001692.3:c.688-7T>C,\N,\N,7/13,Likely benign,\N,splice_region_variant&intron_variant,11.93,0.00230681,EXAC_AFR_AF,ATP6V1B1
440020,2:71188731:C>T,NM_001692.3:c.693C>T,NP_001683.2:p.Asn231=,8/14,\N,Unknown significance,\N,synonymous_variant,12.9,0.0000149844,EXAC_NFE_AF,ATP6V1B1
440021,2:71188737:G>A,NM_001692.3:c.699G>A,NP_001683.2:p.Glu233=,8/14,\N,Unknown significance,\N,synonymous_variant,11.24,0.000014984,EXAC_NFE_AF,ATP6V1B1
440022,2:71188739:C>T,NM_001692.3:c.701C>T,NP_001683.2:p.Thr234Ile,8/14,\N,Unknown significance,\N,missense_variant,25.7,0.000014984,EXAC_NFE_AF,ATP6V1B1
440023,2:71188754:A>G,NM_001692.3:c.716A>G,NP_001683.2:p.Lys239Arg,8/14,\N,Unknown significance,\N,missense_variant,15.35,0.0000605694,EXAC_SAS_AF,ATP6V1B1
440024,2:71188763:T>C,NM_001692.3:c.725T>C,NP_001683.2:p.Phe242Ser,8/14,\N,Unknown significance,\N,missense_variant,29.1,0.000116279,EVS_EA_AF,ATP6V1B1
440025,2:71188764:T>C,NM_001692.3:c.726T>C,NP_001683.2:p.Phe242=,8/14,\N,Unknown significance,\N,synonymous_variant,3.039,0.000116279,EVS_EA_AF,ATP6V1B1
440026,2:71188766:A>G,NM_001692.3:c.728A>G,NP_001683.2:p.Glu243Gly,8/14,\N,Unknown significance,\N,missense_variant,31,0.0000149844,EXAC_NFE_AF,ATP6V1B1
440027,2:71188770:G>C,NM_001692.3:c.732G>C,NP_001683.2:p.Gln244His,8/14,\N,Unknown significance,\N,missense_variant,22.9,0.000119879,EXAC_NFE_AF,ATP6V1B1
440028,2:71188772:A>T,NM_001692.3:c.734A>T,NP_001683.2:p.Asn245Ile,8/14,\N,Unknown significance,\N,missense_variant,28.5,0.0000605694,EXAC_SAS_AF,ATP6V1B1
440029,2:71188780:A>G,NM_001692.3:c.742A>G,NP_001683.2:p.Met248Val,8/14,\N,Unknown significance,\N,missense_variant,22,0.000116279,EVS_EA_AF,ATP6V1B1
440030,2:71188787:A>T,NM_001692.3:c.749A>T,NP_001683.2:p.Asn250Ile,8/14,\N,Unknown significance,\N,missense_variant,27.1,0.0000149858,EXAC_NFE_AF,ATP6V1B1
440031,2:71188788:C>G,NM_001692.3:c.750C>G,NP_001683.2:p.Asn250Lys,8/14,\N,Likely benign,\N,missense_variant,12.82,0.0000299715,EXAC_NFE_AF,ATP6V1B1
440032,2:71188788:C>T,NM_001692.3:c.750C>T,NP_001683.2:p.Asn250=,8/14,\N,Unknown significance,\N,synonymous_variant,14.52,0.001,1KG_EUR_AF,ATP6V1B1
440033,2:71188789:G>A,NM_001692.3:c.751G>A,NP_001683.2:p.Val251Ile,8/14,\N,Unknown significance,\N,missense_variant,23.4,0.0000149858,EXAC_NFE_AF,ATP6V1B1
440034,2:71188790:T>G,NM_001692.3:c.752T>G,NP_001683.2:p.Val251Gly,8/14,\N,Unknown significance,\N,missense_variant,27.3,0.000116279,EVS_EA_AF,ATP6V1B1
440035,2:71188802:T>G,NM_001692.3:c.764T>G,NP_001683.2:p.Leu255Arg,8/14,\N,Unknown significance,\N,missense_variant,29.3,\N,\N,ATP6V1B1
440036,2:71188812:C>G,NM_001692.3:c.774C>G,NP_001683.2:p.Ala258=,8/14,\N,Unknown significance,\N,synonymous_variant,11.71,0.000121153,EXAC_SAS_AF,ATP6V1B1
440037,2:71188821:C>T,NM_001692.3:c.783C>T,NP_001683.2:p.Pro261=,8/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.74,0.000231107,EXAC_EAS_AF,ATP6V1B1
440038,2:71188823:C>T,NM_001692.3:c.785C>T,NP_001683.2:p.Thr262Met,8/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,\N,\N,ATP6V1B1
440039,2:71188824:G>A,NM_001692.3:c.785+1G>A,\N,\N,8/13,Pathogenic,Renal tubular acidosis| sensorineural deafness,splice_donor_variant,27.3,0.0000299922,EXAC_NFE_AF,ATP6V1B1
440040,2:71188833:C>T,NM_001692.3:c.785+10C>T,\N,\N,8/13,Benign,\N,intron_variant,9.335,0.0109,1KG_EAS_AF,ATP6V1B1
440041,2:71188834:C>A,NM_001692.3:c.785+11C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,11.03,0.0000606061,EXAC_SAS_AF,ATP6V1B1
440042,2:71188843:C>A,NM_001692.3:c.785+20C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,15.53,0.001,1KG_EUR_AF,ATP6V1B1
440043,2:71188847:C>T,NM_001692.3:c.785+24C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,16.98,0.000116063,EXAC_EAS_AF,ATP6V1B1
440044,2:71188849:G>T,NM_001692.3:c.785+26G>T,\N,\N,8/13,Unknown significance,\N,intron_variant,15.69,0.0000150304,EXAC_NFE_AF,ATP6V1B1
440045,2:71188869:C>T,NM_001692.3:c.785+46C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,10.33,0.000226963,EVS_AA_AF,ATP6V1B1
440046,2:71188870:G>A,NM_001692.3:c.785+47G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,10.06,0.000365497,EXAC_SAS_AF,ATP6V1B1
440047,2:71188884:C>T,NM_001692.3:c.785+61C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,5.055,0.0015,1KG_AFR_AF,ATP6V1B1
440048,2:71188895:A>G,NM_001692.3:c.785+72A>G,\N,\N,8/13,Unknown significance,\N,intron_variant,0.072,\N,\N,ATP6V1B1
440049,2:71188923:C>T,NM_001692.3:c.785+100C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,3.976,0.001,1KG_EUR_AF,ATP6V1B1
440050,2:71188982:G>A,NM_001692.3:c.785+159G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.865,\N,\N,ATP6V1B1
440051,2:71189006:A>C,NM_001692.3:c.785+183A>C,\N,\N,8/13,Unknown significance,\N,intron_variant,0.794,\N,\N,ATP6V1B1
440052,2:71189052:C>T,NM_001692.3:c.785+229C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,5.777,0.0014,1KG_AMR_AF,ATP6V1B1
440053,2:71189062:C>T,NM_001692.3:c.785+239C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,5.796,0.0031,1KG_SAS_AF,ATP6V1B1
440054,2:71189114:C>CTTTCCCTAAACATTTATTTAGAAA,NM_001692.3:c.785+291_785+292insTTTCCCTAAACATTTATTTAGAAA,\N,\N,8/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
440055,2:71189136:C>A,NM_001692.3:c.785+313C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,2.899,\N,\N,ATP6V1B1
440056,2:71189136:C>CATTTCCCTAAACATTTATTTAGAA,NM_001692.3:c.785+314_785+315insTTTCCCTAAACATTTATTTAGAAA,\N,\N,8/13,Benign,\N,intron_variant,0.559,0.6567,1KG_EAS_AF,ATP6V1B1
440057,2:71189189:T>C,NM_001692.3:c.785+366T>C,\N,\N,8/13,Unknown significance,\N,intron_variant,6.392,0.001,1KG_EAS_AF,ATP6V1B1
440058,2:71189219:G>A,NM_001692.3:c.785+396G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.981,\N,\N,ATP6V1B1
440059,2:71189236:A>C,NM_001692.3:c.785+413A>C,\N,\N,8/13,Unknown significance,\N,intron_variant,1.389,\N,\N,ATP6V1B1
440060,2:71189250:A>G,NM_001692.3:c.785+427A>G,\N,\N,8/13,Unknown significance,\N,intron_variant,0.812,\N,\N,ATP6V1B1
440061,2:71189357:T>C,NM_001692.3:c.785+534T>C,\N,\N,8/13,Benign,\N,intron_variant,2.256,0.6567,1KG_EAS_AF,ATP6V1B1
440062,2:71189361:G>A,NM_001692.3:c.785+538G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.911,\N,\N,ATP6V1B1
440063,2:71189384:C>A,NM_001692.3:c.786-523C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,6.337,\N,\N,ATP6V1B1
440064,2:71189392:G>A,NM_001692.3:c.786-515G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.955,\N,\N,ATP6V1B1
440065,2:71189394:G>A,NM_001692.3:c.786-513G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,2.481,\N,\N,ATP6V1B1
440066,2:71189441:G>A,NM_001692.3:c.786-466G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,4.47,\N,\N,ATP6V1B1
440067,2:71189456:C>T,NM_001692.3:c.786-451C>T,\N,\N,8/13,Benign,\N,intron_variant,7.475,0.0091,1KG_AFR_AF,ATP6V1B1
440068,2:71189457:G>A,NM_001692.3:c.786-450G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,4.356,0.001,1KG_EAS_AF,ATP6V1B1
440069,2:71189464:T>A,NM_001692.3:c.786-443T>A,\N,\N,8/13,Unknown significance,\N,intron_variant,4.513,0.0008,1KG_AFR_AF,ATP6V1B1
440070,2:71189477:C>G,NM_001692.3:c.786-430C>G,\N,\N,8/13,Benign,\N,intron_variant,1.261,0.6627,1KG_EAS_AF,ATP6V1B1
440071,2:71189493:G>C,NM_001692.3:c.786-414G>C,\N,\N,8/13,Unknown significance,\N,intron_variant,15.62,\N,\N,ATP6V1B1
440072,2:71189505:G>A,NM_001692.3:c.786-402G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,14.65,\N,\N,ATP6V1B1
440073,2:71189517:G>C,NM_001692.3:c.786-390G>C,\N,\N,8/13,Unknown significance,\N,intron_variant,5.909,0.0008,1KG_AFR_AF,ATP6V1B1
440074,2:71189530:C>A,NM_001692.3:c.786-377C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.741,\N,\N,ATP6V1B1
440075,2:71189536:C>G,NM_001692.3:c.786-371C>G,\N,\N,8/13,Unknown significance,\N,intron_variant,7.74,\N,\N,ATP6V1B1
440076,2:71189548:A>C,NM_001692.3:c.786-359A>C,\N,\N,8/13,Unknown significance,\N,intron_variant,4.08,\N,\N,ATP6V1B1
440077,2:71189557:C>T,NM_001692.3:c.786-350C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,5.004,\N,\N,ATP6V1B1
440078,2:71189577:CT>C,NM_001692.3:c.786-328del,\N,\N,8/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
440079,2:71189587:G>A,NM_001692.3:c.786-320G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,1.372,\N,\N,ATP6V1B1
440080,2:71189592:A>C,NM_001692.3:c.786-315A>C,\N,\N,8/13,Unknown significance,\N,intron_variant,0.511,\N,\N,ATP6V1B1
440081,2:71189614:A>G,NM_001692.3:c.786-293A>G,\N,\N,8/13,Unknown significance,\N,intron_variant,1.648,0.001,1KG_EUR_AF,ATP6V1B1
440082,2:71189631:C>G,NM_001692.3:c.786-276C>G,\N,\N,8/13,Unknown significance,\N,intron_variant,6.623,\N,\N,ATP6V1B1
440083,2:71189633:G>A,NM_001692.3:c.786-274G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,5.368,0.0008,1KG_AFR_AF,ATP6V1B1
440084,2:71189658:A>G,NM_001692.3:c.786-249A>G,\N,\N,8/13,Unknown significance,\N,intron_variant,6.141,\N,\N,ATP6V1B1
440085,2:71189662:G>A,NM_001692.3:c.786-245G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,3.025,0.002,1KG_EUR_AF,ATP6V1B1
440086,2:71189666:C>A,NM_001692.3:c.786-241C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,8.312,0.0008,1KG_AFR_AF,ATP6V1B1
440087,2:71189698:T>C,NM_001692.3:c.786-209T>C,\N,\N,8/13,Unknown significance,\N,intron_variant,4.78,0.001,1KG_EUR_AF,ATP6V1B1
440088,2:71189709:C>T,NM_001692.3:c.786-198C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,3.923,0.001,1KG_EUR_AF,ATP6V1B1
440089,2:71189717:GTGT>G,NM_001692.3:c.786-187_786-185del,\N,\N,8/13,Unknown significance,\N,intron_variant,3.473,\N,\N,ATP6V1B1
440090,2:71189725:G>A,NM_001692.3:c.786-182G>A,\N,\N,8/13,Benign,\N,intron_variant,2.406,0.6567,1KG_EAS_AF,ATP6V1B1
440091,2:71189771:C>A,NM_001692.3:c.786-136C>A,\N,\N,8/13,Unknown significance,\N,intron_variant,5.66,\N,\N,ATP6V1B1
440092,2:71189771:C>T,NM_001692.3:c.786-136C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,5.609,\N,\N,ATP6V1B1
440093,2:71189821:C>G,NM_001692.3:c.786-86C>G,\N,\N,8/13,Unknown significance,\N,intron_variant,11.73,0.002,1KG_EAS_AF,ATP6V1B1
440094,2:71189844:C>G,NM_001692.3:c.786-63C>G,\N,\N,8/13,Benign,\N,intron_variant,5.197,0.0401,1KG_AFR_AF,ATP6V1B1
440095,2:71189851:A>G,NM_001692.3:c.786-56A>G,\N,\N,8/13,Unknown significance,\N,intron_variant,2.659,\N,\N,ATP6V1B1
440096,2:71189854:T>C,NM_001692.3:c.786-53T>C,\N,\N,8/13,Unknown significance,\N,intron_variant,0.978,\N,\N,ATP6V1B1
440097,2:71189857:T>C,NM_001692.3:c.786-50T>C,\N,\N,8/13,Benign,\N,intron_variant,1.929,0.2073,1KG_AFR_AF,ATP6V1B1
440098,2:71189869:G>A,NM_001692.3:c.786-38G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,5.237,0.0000150159,EXAC_NFE_AF,ATP6V1B1
440099,2:71189880:TC>T,NM_001692.3:c.786-26del,\N,\N,8/13,Unknown significance,\N,intron_variant,2.505,\N,\N,ATP6V1B1
440100,2:71189894:G>A,NM_001692.3:c.786-13G>A,\N,\N,8/13,Unknown significance,\N,intron_variant,8.195,0.0000150047,EXAC_NFE_AF,ATP6V1B1
440101,2:71189895:C>T,NM_001692.3:c.786-12C>T,\N,\N,8/13,Unknown significance,\N,intron_variant,8.559,0.0000150042,EXAC_NFE_AF,ATP6V1B1
440102,2:71189910:C>T,NM_001692.3:c.789C>T,NP_001683.2:p.Ile263=,9/14,\N,Unknown significance,\N,synonymous_variant,17.55,0.000116279,EVS_EA_AF,ATP6V1B1
440103,2:71189911:G>A,NM_001692.3:c.790G>A,NP_001683.2:p.Glu264Lys,9/14,\N,Unknown significance,\N,missense_variant,34,0.0000149961,EXAC_NFE_AF,ATP6V1B1
440104,2:71189911:G>C,NM_001692.3:c.790G>C,NP_001683.2:p.Glu264Gln,9/14,\N,Unknown significance,\N,missense_variant,29.9,0.0014,1KG_AMR_AF,ATP6V1B1
440105,2:71189912:A>T,NM_001692.3:c.791A>T,NP_001683.2:p.Glu264Val,9/14,\N,Unknown significance,\N,missense_variant,33,0.00030281,EXAC_SAS_AF,ATP6V1B1
440106,2:71189913:G>T,NM_001692.3:c.792G>T,NP_001683.2:p.Glu264Asp,9/14,\N,Unknown significance,\N,missense_variant,27.5,0.0000961908,EXAC_AFR_AF,ATP6V1B1
440107,2:71189914:C>A,NM_001692.3:c.793C>A,NP_001683.2:p.Arg265=,9/14,\N,Unknown significance,\N,synonymous_variant,22.6,0.0000961908,EXAC_AFR_AF,ATP6V1B1
440108,2:71189919:C>A,NM_001692.3:c.798C>A,NP_001683.2:p.Ile266=,9/14,\N,Unknown significance,\N,synonymous_variant,20.3,0.000116279,EVS_EA_AF,ATP6V1B1
440109,2:71189919:C>T,NM_001692.3:c.798C>T,NP_001683.2:p.Ile266=,9/14,\N,Unknown significance,\N,synonymous_variant,15.1,0.0000149921,EXAC_NFE_AF,ATP6V1B1
440110,2:71189922:C>T,NM_001692.3:c.801C>T,NP_001683.2:p.Ile267=,9/14,\N,Unknown significance,\N,synonymous_variant,14.43,0.000226963,EVS_AA_AF,ATP6V1B1
440111,2:71189927:C>T,NM_001692.3:c.806C>T,NP_001683.2:p.Pro269Leu,9/14,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,ATP6V1B1
440112,2:71189928:G>A,NM_001692.3:c.807G>A,NP_001683.2:p.Pro269=,9/14,\N,Unknown significance,\N,synonymous_variant,11.02,0.001,1KG_SAS_AF,ATP6V1B1
440113,2:71189929:C>T,NM_001692.3:c.808C>T,NP_001683.2:p.Arg270Cys,9/14,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_SAS_AF,ATP6V1B1
440114,2:71189930:G>A,NM_001692.3:c.809G>A,NP_001683.2:p.Arg270His,9/14,\N,Unknown significance,\N,missense_variant,34,0.0000961538,EXAC_AFR_AF,ATP6V1B1
440115,2:71189936:C>T,NM_001692.3:c.815C>T,NP_001683.2:p.Ala272Val,9/14,\N,Likely benign,\N,missense_variant,34,0.0043,1KG_AMR_AF,ATP6V1B1
440116,2:71189936:C>G,NM_001692.3:c.815C>G,NP_001683.2:p.Ala272Gly,9/14,\N,Unknown significance,\N,missense_variant,33,0.00120956,EXAC_FIN_AF,ATP6V1B1
440117,2:71189937:G>A,NM_001692.3:c.816G>A,NP_001683.2:p.Ala272=,9/14,\N,Unknown significance,\N,synonymous_variant,13.41,0.000345483,EXAC_AMR_AF,ATP6V1B1
440118,2:71189944:A>C,NM_001692.3:c.823A>C,NP_001683.2:p.Thr275Pro,9/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,16.02,\N,\N,ATP6V1B1
440119,2:71189945:CT>C,NM_001692.3:c.825del,NP_001683.2:p.Ala276LeufsTer16,9/14,\N,Likely pathogenic,Renal tubular acidosis,frameshift_variant,17.45,\N,\N,ATP6V1B1
440120,2:71189948:C>G,NM_001692.3:c.827C>G,NP_001683.2:p.Ala276Gly,9/14,\N,Unknown significance,\N,missense_variant,29.1,0.0000863707,EXAC_AMR_AF,ATP6V1B1
440121,2:71189968:T>C,NM_001692.3:c.847T>C,NP_001683.2:p.Cys283Arg,9/14,\N,Unknown significance,\N,missense_variant,22.9,0.000172741,EXAC_AMR_AF,ATP6V1B1
440122,2:71189980:G>A,NM_001692.3:c.859G>A,NP_001683.2:p.Val287Met,9/14,\N,Unknown significance,\N,missense_variant,31,0.0000149858,EXAC_NFE_AF,ATP6V1B1
440123,2:71189981:T>C,NM_001692.3:c.860T>C,NP_001683.2:p.Val287Ala,9/14,\N,Unknown significance,\N,missense_variant,27.2,0.000480677,EXAC_AFR_AF,ATP6V1B1
440124,2:71189992:C>G,NM_001692.3:c.871C>G,NP_001683.2:p.Leu291Val,9/14,\N,Unknown significance,\N,missense_variant,26.1,0.000060562,EXAC_SAS_AF,ATP6V1B1
440125,2:71189996:C>T,NM_001692.3:c.875C>T,NP_001683.2:p.Thr292Met,9/14,\N,Unknown significance,\N,missense_variant,33,0.000239779,EXAC_NFE_AF,ATP6V1B1
440126,2:71189997:G>A,NM_001692.3:c.876G>A,NP_001683.2:p.Thr292=,9/14,\N,Unknown significance,\N,synonymous_variant,14.46,0.0000864006,EXAC_AMR_AF,ATP6V1B1
440127,2:71190001:A>G,NM_001692.3:c.880A>G,NP_001683.2:p.Met294Val,9/14,\N,Unknown significance,\N,missense_variant,24.7,0.0008,1KG_AFR_AF,ATP6V1B1
440128,2:71190014:C>T,NM_001692.3:c.893C>T,NP_001683.2:p.Ala298Val,9/14,\N,Unknown significance,\N,missense_variant,33,\N,\N,ATP6V1B1
440129,2:71190018:G>A,NM_001692.3:c.897G>A,NP_001683.2:p.Glu299=,9/14,\N,Unknown significance,\N,synonymous_variant,8.555,0.000288406,EXAC_AFR_AF,ATP6V1B1
440130,2:71190019:G>A,NM_001692.3:c.898G>A,NP_001683.2:p.Ala300Thr,9/14,\N,Unknown significance,\N,missense_variant,33,0.0000149876,EXAC_NFE_AF,ATP6V1B1
440131,2:71190026:G>A,NM_001692.3:c.905G>A,NP_001683.2:p.Arg302Gln,9/14,\N,Unknown significance,\N,missense_variant,34,0.0000149889,EXAC_NFE_AF,ATP6V1B1
440132,2:71190030:G>A,NM_001692.3:c.909G>A,NP_001683.2:p.Glu303=,9/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.38,\N,\N,ATP6V1B1
440133,2:71190041:TAGC>T,NM_001692.3:c.909+13_909+15del,\N,\N,9/13,Unknown significance,\N,intron_variant,7.191,0.000014993,EXAC_NFE_AF,ATP6V1B1
440134,2:71190046:A>G,NM_001692.3:c.909+16A>G,\N,\N,9/13,Unknown significance,\N,intron_variant,1.771,0.0000864304,EXAC_AMR_AF,ATP6V1B1
440135,2:71190051:T>C,NM_001692.3:c.909+21T>C,\N,\N,9/13,Benign,\N,intron_variant,4.747,0.084,1KG_AFR_AF,ATP6V1B1
440136,2:71190052:G>A,NM_001692.3:c.909+22G>A,\N,\N,9/13,Unknown significance,\N,intron_variant,4.248,0.000121124,EXAC_SAS_AF,ATP6V1B1
440137,2:71190056:G>A,NM_001692.3:c.909+26G>A,\N,\N,9/13,Unknown significance,\N,intron_variant,5.339,0.00136529,EXAC_FIN_AF,ATP6V1B1
440138,2:71190057:A>T,NM_001692.3:c.909+27A>T,\N,\N,9/13,Unknown significance,\N,intron_variant,0.169,0.0000149984,EXAC_NFE_AF,ATP6V1B1
440139,2:71190057:AT>A,NM_001692.3:c.909+29del,\N,\N,9/13,Unknown significance,\N,intron_variant,5.416,0.0000449951,EXAC_NFE_AF,ATP6V1B1
440140,2:71190073:C>T,NM_001692.3:c.909+43C>T,\N,\N,9/13,Unknown significance,\N,intron_variant,6.266,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440141,2:71190125:C>T,NM_001692.3:c.909+95C>T,\N,\N,9/13,Unknown significance,\N,intron_variant,2.633,\N,\N,ATP6V1B1
440142,2:71190147:A>G,NM_001692.3:c.909+117A>G,\N,\N,9/13,Unknown significance,\N,intron_variant,1.748,0.0014,1KG_AMR_AF,ATP6V1B1
440143,2:71190147:ATGAGTTCCAG>A,NM_001692.3:c.909+118_909+127del,\N,\N,9/13,Unknown significance,\N,intron_variant,\N,0.003,1KG_EAS_AF,ATP6V1B1
440144,2:71190164:G>A,NM_001692.3:c.910-128G>A,\N,\N,9/13,Unknown significance,\N,intron_variant,2.464,0.0014,1KG_AMR_AF,ATP6V1B1
440145,2:71190174:G>A,NM_001692.3:c.910-118G>A,\N,\N,9/13,Unknown significance,\N,intron_variant,11.62,\N,\N,ATP6V1B1
440146,2:71190218:T>C,NM_001692.3:c.910-74T>C,\N,\N,9/13,Unknown significance,\N,intron_variant,5.367,\N,\N,ATP6V1B1
440147,2:71190232:A>G,NM_001692.3:c.910-60A>G,\N,\N,9/13,Unknown significance,\N,intron_variant,9.335,\N,\N,ATP6V1B1
440148,2:71190234:C>T,NM_001692.3:c.910-58C>T,\N,\N,9/13,Unknown significance,\N,intron_variant,6.516,0.001,1KG_EAS_AF,ATP6V1B1
440149,2:71190242:G>C,NM_001692.3:c.910-50G>C,\N,\N,9/13,Unknown significance,\N,intron_variant,0.622,0.0000150236,EXAC_NFE_AF,ATP6V1B1
440150,2:71190244:T>C,NM_001692.3:c.910-48T>C,\N,\N,9/13,Unknown significance,\N,intron_variant,1.319,0.0000864603,EXAC_AMR_AF,ATP6V1B1
440151,2:71190266:T>C,NM_001692.3:c.910-26T>C,\N,\N,9/13,Unknown significance,\N,intron_variant,7.606,0.001,1KG_EAS_AF,ATP6V1B1
440152,2:71190270:C>G,NM_001692.3:c.910-22C>G,\N,\N,9/13,Unknown significance,\N,intron_variant,8.53,0.000226963,EVS_AA_AF,ATP6V1B1
440153,2:71190286:T>C,NM_001692.3:c.910-6T>C,\N,\N,9/13,Unknown significance,\N,splice_region_variant&intron_variant,10.85,0.000115741,EXAC_EAS_AF,ATP6V1B1
440154,2:71190287:T>C,NM_001692.3:c.910-5T>C,\N,\N,9/13,Unknown significance,\N,splice_region_variant&intron_variant,10.02,0.0000150164,EXAC_NFE_AF,ATP6V1B1
440155,2:71190290:A>T,NM_001692.3:c.910-2A>T,\N,\N,9/13,Pathogenic,Renal tubular acidosis| sensorineural deafness,splice_acceptor_variant,24.8,\N,\N,ATP6V1B1
440156,2:71190298:G>A,NM_001692.3:c.916G>A,NP_001683.2:p.Ala306Thr,10/14,\N,Unknown significance,\N,missense_variant,23.4,0.0000150119,EXAC_NFE_AF,ATP6V1B1
440157,2:71190308:A>G,NM_001692.3:c.926A>G,NP_001683.2:p.Glu309Gly,10/14,\N,Unknown significance,\N,missense_variant,23.1,0.00393519,EXAC_EAS_AF,ATP6V1B1
440158,2:71190322:C>T,NM_001692.3:c.940C>T,NP_001683.2:p.Arg314Cys,10/14,\N,Unknown significance,\N,missense_variant,35,0.0029,1KG_AMR_AF,ATP6V1B1
440159,2:71190323:G>A,NM_001692.3:c.941G>A,NP_001683.2:p.Arg314His,10/14,\N,Unknown significance,\N,missense_variant,34,0.000045018,EXAC_NFE_AF,ATP6V1B1
440160,2:71190325:C>T,NM_001692.3:c.943C>T,NP_001683.2:p.Arg315Ter,10/14,\N,Unknown significance,\N,stop_gained,40,0.000226963,EVS_AA_AF,ATP6V1B1
440161,2:71190326:G>A,NM_001692.3:c.944G>A,NP_001683.2:p.Arg315Gln,10/14,\N,Unknown significance,\N,missense_variant,34,0.0000300084,EXAC_NFE_AF,ATP6V1B1
440162,2:71190329:G>A,NM_001692.3:c.947G>A,NP_001683.2:p.Gly316Glu,10/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,27,\N,\N,ATP6V1B1
440163,2:71190357:G>GGCC,NM_001692.3:c.976_978dup,NP_001683.2:p.Ala326dup,10/14,\N,Pathogenic,Renal tubular acidosis,inframe_insertion,19.29,\N,\N,ATP6V1B1
440164,2:71190364:A>T,NM_001692.3:c.982A>T,NP_001683.2:p.Ile328Phe,10/14,\N,Unknown significance,\N,missense_variant,29.1,0.000060562,EXAC_SAS_AF,ATP6V1B1
440165,2:71190369:C>T,NM_001692.3:c.987C>T,NP_001683.2:p.Tyr329=,10/14,\N,Unknown significance,\N,synonymous_variant,13.11,0.001,1KG_SAS_AF,ATP6V1B1
440166,2:71190370:G>A,NM_001692.3:c.988G>A,NP_001683.2:p.Glu330Lys,10/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,34,0.000075057,EXAC_NFE_AF,ATP6V1B1
440167,2:71190370:G>C,NM_001692.3:c.988G>C,NP_001683.2:p.Glu330Gln,10/14,\N,Unknown significance,\N,missense_variant,29.7,0.0000150114,EXAC_NFE_AF,ATP6V1B1
440168,2:71190374:G>A,NM_001692.3:c.992G>A,NP_001683.2:p.Arg331Gln,10/14,\N,Unknown significance,\N,missense_variant,34,0.000484555,EXAC_SAS_AF,ATP6V1B1
440169,2:71190377:C>T,NM_001692.3:c.995C>T,NP_001683.2:p.Ala332Val,10/14,\N,Unknown significance,\N,missense_variant,34,\N,\N,ATP6V1B1
440170,2:71190378:G>A,NM_001692.3:c.996G>A,NP_001683.2:p.Ala332=,10/14,\N,Unknown significance,\N,synonymous_variant,11.25,0.0000605694,EXAC_SAS_AF,ATP6V1B1
440171,2:71190378:G>C,NM_001692.3:c.996G>C,NP_001683.2:p.Ala332=,10/14,\N,Unknown significance,\N,synonymous_variant,8.986,0.0000605694,EXAC_SAS_AF,ATP6V1B1
440172,2:71190383:G>A,NM_001692.3:c.1001G>A,NP_001683.2:p.Arg334His,10/14,\N,Unknown significance,\N,missense_variant,34,0.0000300318,EXAC_NFE_AF,ATP6V1B1
440173,2:71190384:C>T,NM_001692.3:c.1002C>T,NP_001683.2:p.Arg334=,10/14,\N,Benign,\N,synonymous_variant,16.51,0.6548,1KG_EAS_AF,ATP6V1B1
440174,2:71190392:G>T,NM_001692.3:c.1010G>T,NP_001683.2:p.Gly337Val,10/14,\N,Unknown significance,\N,missense_variant,31,0.0000864603,EXAC_AMR_AF,ATP6V1B1
440175,2:71190395:G>A,NM_001692.3:c.1013G>A,NP_001683.2:p.Arg338Gln,10/14,\N,Unknown significance,\N,missense_variant,34,0.000115929,EXAC_EAS_AF,ATP6V1B1
440176,2:71190395:G>C,NM_001692.3:c.1013G>C,NP_001683.2:p.Arg338Pro,10/14,\N,Unknown significance,\N,missense_variant,34,0.000259426,EXAC_AMR_AF,ATP6V1B1
440177,2:71190397:G>A,NM_001692.3:c.1015G>A,NP_001683.2:p.Gly339Arg,10/14,\N,Unknown significance,\N,missense_variant,19.21,0.0000605694,EXAC_SAS_AF,ATP6V1B1
440178,2:71190405:C>T,NM_001692.3:c.1023C>T,NP_001683.2:p.Ser341=,10/14,\N,Benign,\N,synonymous_variant,12.7,0.0261999,EXAC_EAS_AF,ATP6V1B1
440179,2:71190409:A>G,NM_001692.3:c.1027A>G,NP_001683.2:p.Thr343Ala,10/14,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,ATP6V1B1
440180,2:71190414:G>A,NM_001692.3:c.1032G>A,NP_001683.2:p.Gln344=,10/14,\N,Unknown significance,\N,synonymous_variant,7.76,0.000226963,EVS_AA_AF,ATP6V1B1
440181,2:71190414:G>C,NM_001692.3:c.1032G>C,NP_001683.2:p.Gln344His,10/14,\N,Unknown significance,\N,missense_variant,26.9,0.0000150621,EXAC_NFE_AF,ATP6V1B1
440182,2:71190415:A>T,NM_001692.3:c.1033A>T,NP_001683.2:p.Ile345Phe,10/14,\N,Unknown significance,\N,missense_variant,23.8,0.0000864753,EXAC_AMR_AF,ATP6V1B1
440183,2:71190417:C>T,NM_001692.3:c.1035C>T,NP_001683.2:p.Ile345=,10/14,\N,Unknown significance,\N,synonymous_variant,14.78,0.001,1KG_SAS_AF,ATP6V1B1
440184,2:71190418:C>T,NM_001692.3:c.1036C>T,NP_001683.2:p.Pro346Ser,10/14,\N,Unknown significance,\N,missense_variant,31,0.0000150689,EXAC_NFE_AF,ATP6V1B1
440185,2:71190419:C>G,NM_001692.3:c.1037C>G,NP_001683.2:p.Pro346Arg,10/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,28.8,0.0000864753,EXAC_AMR_AF,ATP6V1B1
440186,2:71190419:C>T,NM_001692.3:c.1037C>T,NP_001683.2:p.Pro346Leu,10/14,\N,Unknown significance,\N,missense_variant,33,0.000115955,EXAC_EAS_AF,ATP6V1B1
440187,2:71190433:C>T,NM_001692.3:c.1051C>T,NP_001683.2:p.Pro351Ser,10/14,\N,Unknown significance,\N,missense_variant,31,0.000605767,EXAC_SAS_AF,ATP6V1B1
440188,2:71190437:A>G,NM_001692.3:c.1055A>G,NP_001683.2:p.Asn352Ser,10/14,\N,Unknown significance,\N,missense_variant,19.24,\N,\N,ATP6V1B1
440189,2:71190438:C>A,NM_001692.3:c.1056C>A,NP_001683.2:p.Asn352Lys,10/14,\N,Unknown significance,\N,missense_variant,25.4,0.001,1KG_SAS_AF,ATP6V1B1
440190,2:71190439:G>A,NM_001692.3:c.1057G>A,NP_001683.2:p.Asp353Asn,10/14,\N,Unknown significance,\N,missense_variant,24.1,0.0000150989,EXAC_NFE_AF,ATP6V1B1
440191,2:71190440:A>G,NM_001692.3:c.1058A>G,NP_001683.2:p.Asp353Gly,10/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.2,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440192,2:71190441:C>T,NM_001692.3:c.1059C>T,NP_001683.2:p.Asp353=,10/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.85,0.000302939,EXAC_FIN_AF,ATP6V1B1
440193,2:71190442:G>A,NM_001692.3:c.1060G>A,NP_001683.2:p.Asp354Asn,10/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440194,2:71190466:C>G,NM_001692.3:c.1060+24C>G,\N,\N,10/13,Unknown significance,\N,intron_variant,3.612,0.0000605914,EXAC_SAS_AF,ATP6V1B1
440195,2:71190467:C>T,NM_001692.3:c.1060+25C>T,\N,\N,10/13,Unknown significance,\N,intron_variant,5.344,0.0000981547,EXAC_AFR_AF,ATP6V1B1
440196,2:71190472:G>C,NM_001692.3:c.1060+30G>C,\N,\N,10/13,Unknown significance,\N,intron_variant,1.188,0.00019658,EXAC_AFR_AF,ATP6V1B1
440197,2:71190475:C>G,NM_001692.3:c.1060+33C>G,\N,\N,10/13,Unknown significance,\N,intron_variant,4.038,0.000116063,EXAC_EAS_AF,ATP6V1B1
440198,2:71190482:G>A,NM_001692.3:c.1060+40G>A,\N,\N,10/13,Unknown significance,\N,intron_variant,3.977,0.0000605914,EXAC_SAS_AF,ATP6V1B1
440199,2:71190518:C>T,NM_001692.3:c.1060+76C>T,\N,\N,10/13,Unknown significance,\N,intron_variant,3.89,0.0014,1KG_AMR_AF,ATP6V1B1
440200,2:71190534:T>C,NM_001692.3:c.1060+92T>C,\N,\N,10/13,Unknown significance,\N,intron_variant,0.499,0.0008,1KG_AFR_AF,ATP6V1B1
440201,2:71190545:G>A,NM_001692.3:c.1060+103G>A,\N,\N,10/13,Benign,\N,intron_variant,0.515,0.6567,1KG_EAS_AF,ATP6V1B1
440202,2:71190650:G>T,NM_001692.3:c.1061-52G>T,\N,\N,10/13,Unknown significance,\N,intron_variant,13.29,0.0014,1KG_AMR_AF,ATP6V1B1
440203,2:71190655:G>A,NM_001692.3:c.1061-47G>A,\N,\N,10/13,Benign,\N,intron_variant,13.56,0.0736,1KG_EUR_AF,ATP6V1B1
440204,2:71190659:C>G,NM_001692.3:c.1061-43C>G,\N,\N,10/13,Unknown significance,\N,intron_variant,14.71,0.000121773,EXAC_SAS_AF,ATP6V1B1
440205,2:71190663:G>A,NM_001692.3:c.1061-39G>A,\N,\N,10/13,Unknown significance,\N,intron_variant,10.73,0.00411585,EXAC_FIN_AF,ATP6V1B1
440206,2:71190673:C>A,NM_001692.3:c.1061-29C>A,\N,\N,10/13,Unknown significance,\N,intron_variant,10.94,0.0000301132,EXAC_NFE_AF,ATP6V1B1
440207,2:71190683:C>T,NM_001692.3:c.1061-19C>T,\N,\N,10/13,Unknown significance,\N,intron_variant,8.149,0.0000150146,EXAC_NFE_AF,ATP6V1B1
440208,2:71190688:G>A,NM_001692.3:c.1061-14G>A,\N,\N,10/13,Unknown significance,\N,intron_variant,7.196,0.0000150042,EXAC_NFE_AF,ATP6V1B1
440209,2:71190689:A>G,NM_001692.3:c.1061-13A>G,\N,\N,10/13,Unknown significance,\N,intron_variant,6.37,0.000465116,EVS_EA_AF,ATP6V1B1
440210,2:71190690:G>A,NM_001692.3:c.1061-12G>A,\N,\N,10/13,Unknown significance,\N,intron_variant,6.515,0.000015002,EXAC_NFE_AF,ATP6V1B1
440211,2:71190696:T>C,NM_001692.3:c.1061-6T>C,\N,\N,10/13,Unknown significance,\N,splice_region_variant&intron_variant,7.964,0.001,1KG_SAS_AF,ATP6V1B1
440212,2:71190706:C>T,NM_001692.3:c.1065C>T,NP_001683.2:p.Ile355=,11/14,\N,Unknown significance,\N,synonymous_variant,14.02,0.000060584,EXAC_SAS_AF,ATP6V1B1
440213,2:71190712:C>T,NM_001692.3:c.1071C>T,NP_001683.2:p.His357=,11/14,\N,Unknown significance,\N,synonymous_variant,12.7,0.0000865052,EXAC_AMR_AF,ATP6V1B1
440214,2:71190713:C>T,NM_001692.3:c.1072C>T,NP_001683.2:p.Pro358Ser,11/14,\N,Unknown significance,\N,missense_variant,32,\N,\N,ATP6V1B1
440215,2:71190720:C>T,NM_001692.3:c.1079C>T,NP_001683.2:p.Pro360Leu,11/14,\N,Unknown significance,\N,missense_variant,34,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440216,2:71190721:A>C,NM_001692.3:c.1080A>C,NP_001683.2:p.Pro360=,11/14,\N,Unknown significance,\N,synonymous_variant,2.218,0.0000961538,EXAC_AFR_AF,ATP6V1B1
440217,2:71190727:G>C,NM_001692.3:c.1086G>C,NP_001683.2:p.Leu362Phe,11/14,\N,Unknown significance,\N,missense_variant,28.2,0.000172891,EXAC_AMR_AF,ATP6V1B1
440218,2:71190729:C>T,NM_001692.3:c.1088C>T,NP_001683.2:p.Thr363Met,11/14,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,ATP6V1B1
440219,2:71190730:G>T,NM_001692.3:c.1089G>T,NP_001683.2:p.Thr363=,11/14,\N,Unknown significance,\N,synonymous_variant,10.37,0.0000149885,EXAC_NFE_AF,ATP6V1B1
440220,2:71190731:G>A,NM_001692.3:c.1090G>A,NP_001683.2:p.Gly364Ser,11/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,32,\N,\N,ATP6V1B1
440221,2:71190741:C>T,NM_001692.3:c.1100C>T,NP_001683.2:p.Thr367Ile,11/14,\N,Unknown significance,\N,missense_variant,32,0.0000299724,EXAC_NFE_AF,ATP6V1B1
440222,2:71190743:G>A,NM_001692.3:c.1102G>A,NP_001683.2:p.Glu368Lys,11/14,\N,Pathogenic,Renal tubular acidosis,missense_variant,34,\N,\N,ATP6V1B1
440223,2:71190746:G>A,NM_001692.3:c.1105G>A,NP_001683.2:p.Gly369Arg,11/14,\N,Unknown significance,\N,missense_variant,32,0.0000961723,EXAC_AFR_AF,ATP6V1B1
440224,2:71190754:C>G,NM_001692.3:c.1113C>G,NP_001683.2:p.Ile371Met,11/14,\N,Unknown significance,\N,missense_variant,25.8,0.0008,1KG_AFR_AF,ATP6V1B1
440225,2:71190757:C>T,NM_001692.3:c.1116C>T,NP_001683.2:p.Tyr372=,11/14,\N,Unknown significance,\N,synonymous_variant,14.8,0.0000149889,EXAC_NFE_AF,ATP6V1B1
440226,2:71190758:G>A,NM_001692.3:c.1117G>A,NP_001683.2:p.Val373Met,11/14,\N,Unknown significance,\N,missense_variant,32,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440227,2:71190768:A>G,NM_001692.3:c.1127A>G,NP_001683.2:p.Gln376Arg,11/14,\N,Unknown significance,\N,missense_variant,24.4,0.000226963,EVS_AA_AF,ATP6V1B1
440228,2:71190770:C>A,NM_001692.3:c.1129C>A,NP_001683.2:p.Leu377Ile,11/14,\N,Unknown significance,\N,missense_variant,28.9,\N,\N,ATP6V1B1
440229,2:71190775:C>T,NM_001692.3:c.1134C>T,NP_001683.2:p.His378=,11/14,\N,Unknown significance,\N,synonymous_variant,11.12,0.0003465,EXAC_AMR_AF,ATP6V1B1
440230,2:71190776:A>G,NM_001692.3:c.1135A>G,NP_001683.2:p.Asn379Asp,11/14,\N,Unknown significance,\N,missense_variant,25,0.0000866401,EXAC_AMR_AF,ATP6V1B1
440231,2:71190784:G>T,NM_001692.3:c.1143G>T,NP_001683.2:p.Gln381His,11/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.5,0.0000964506,EXAC_AFR_AF,ATP6V1B1
440232,2:71190786:T>G,NM_001692.3:c.1143+2T>G,\N,\N,11/13,Unknown significance,\N,splice_donor_variant,25.2,0.0000964878,EXAC_AFR_AF,ATP6V1B1
440233,2:71190794:T>C,NM_001692.3:c.1143+10T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,2.772,0.0000150466,EXAC_NFE_AF,ATP6V1B1
440234,2:71190803:C>G,NM_001692.3:c.1143+19C>G,\N,\N,11/13,Unknown significance,\N,intron_variant,6.254,0.00023218,EXAC_EAS_AF,ATP6V1B1
440235,2:71190811:T>C,NM_001692.3:c.1143+27T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,2.884,0.000116279,EVS_EA_AF,ATP6V1B1
440236,2:71190813:C>T,NM_001692.3:c.1143+29C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,7.441,0.0000151364,EXAC_NFE_AF,ATP6V1B1
440237,2:71190825:A>G,NM_001692.3:c.1143+41A>G,\N,\N,11/13,Unknown significance,\N,intron_variant,2.211,0.0000980008,EXAC_AFR_AF,ATP6V1B1
440238,2:71190889:G>A,NM_001692.3:c.1143+105G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,1.474,0.001,1KG_EAS_AF,ATP6V1B1
440239,2:71190906:C>G,NM_001692.3:c.1143+122C>G,\N,\N,11/13,Unknown significance,\N,intron_variant,2.554,0.001,1KG_SAS_AF,ATP6V1B1
440240,2:71190934:A>G,NM_001692.3:c.1143+150A>G,\N,\N,11/13,Unknown significance,\N,intron_variant,2.095,0.001,1KG_EAS_AF,ATP6V1B1
440241,2:71190939:G>C,NM_001692.3:c.1143+155G>C,\N,\N,11/13,Benign,\N,intron_variant,0.783,0.0174,1KG_AFR_AF,ATP6V1B1
440242,2:71190986:A>C,NM_001692.3:c.1143+202A>C,\N,\N,11/13,Unknown significance,\N,intron_variant,9.79,\N,\N,ATP6V1B1
440243,2:71190990:G>C,NM_001692.3:c.1143+206G>C,\N,\N,11/13,Unknown significance,\N,intron_variant,9.378,0.0043,1KG_AMR_AF,ATP6V1B1
440244,2:71190991:A>G,NM_001692.3:c.1143+207A>G,\N,\N,11/13,Unknown significance,\N,intron_variant,11.52,0.0008,1KG_AFR_AF,ATP6V1B1
440245,2:71191060:C>T,NM_001692.3:c.1143+276C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,1.223,0.002,1KG_SAS_AF,ATP6V1B1
440246,2:71191061:G>A,NM_001692.3:c.1143+277G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,1.298,0.0008,1KG_AFR_AF,ATP6V1B1
440247,2:71191084:T>C,NM_001692.3:c.1143+300T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,15.15,\N,\N,ATP6V1B1
440248,2:71191092:T>C,NM_001692.3:c.1143+308T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,14.65,0.0008,1KG_AFR_AF,ATP6V1B1
440249,2:71191104:G>A,NM_001692.3:c.1143+320G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,13.27,\N,\N,ATP6V1B1
440250,2:71191143:T>C,NM_001692.3:c.1143+359T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,12.91,\N,\N,ATP6V1B1
440251,2:71191151:G>A,NM_001692.3:c.1143+367G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,10.98,\N,\N,ATP6V1B1
440252,2:71191152:G>A,NM_001692.3:c.1143+368G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,10.06,0.0015,1KG_AFR_AF,ATP6V1B1
440253,2:71191193:T>C,NM_001692.3:c.1144-375T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,1.804,\N,\N,ATP6V1B1
440254,2:71191206:G>A,NM_001692.3:c.1144-362G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,4.971,0.0031,1KG_SAS_AF,ATP6V1B1
440255,2:71191208:T>C,NM_001692.3:c.1144-360T>C,\N,\N,11/13,Benign,\N,intron_variant,1.267,0.2511,1KG_AFR_AF,ATP6V1B1
440256,2:71191218:G>A,NM_001692.3:c.1144-350G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,4.219,0.003,1KG_EUR_AF,ATP6V1B1
440257,2:71191220:C>T,NM_001692.3:c.1144-348C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,4.926,0.0008,1KG_AFR_AF,ATP6V1B1
440258,2:71191242:GTATTTT>G,NM_001692.3:c.1144-324_1144-319del,\N,\N,11/13,Unknown significance,\N,intron_variant,7.472,\N,\N,ATP6V1B1
440259,2:71191242:GTATTTTT>G,NM_001692.3:c.1144-324_1144-318del,\N,\N,11/13,Unknown significance,\N,intron_variant,7.349,\N,\N,ATP6V1B1
440260,2:71191244:A>AT,NM_001692.3:c.1144-302dup,\N,\N,11/13,Unknown significance,\N,intron_variant,0.157,\N,\N,ATP6V1B1
440261,2:71191244:A>ATT,NM_001692.3:c.1144-303_1144-302dup,\N,\N,11/13,Unknown significance,\N,intron_variant,0.143,\N,\N,ATP6V1B1
440262,2:71191244:A>ATTT,NM_001692.3:c.1144-304_1144-302dup,\N,\N,11/13,Unknown significance,\N,intron_variant,0.131,\N,\N,ATP6V1B1
440263,2:71191244:A>T,NM_001692.3:c.1144-324A>T,\N,\N,11/13,Unknown significance,\N,intron_variant,0.699,\N,\N,ATP6V1B1
440264,2:71191267:G>T,NM_001692.3:c.1144-301G>T,\N,\N,11/13,Unknown significance,\N,intron_variant,1.101,\N,\N,ATP6V1B1
440265,2:71191280:A>G,NM_001692.3:c.1144-288A>G,\N,\N,11/13,Unknown significance,\N,intron_variant,1.642,0.0045,1KG_AFR_AF,ATP6V1B1
440266,2:71191318:G>A,NM_001692.3:c.1144-250G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,2.007,0.0015,1KG_AFR_AF,ATP6V1B1
440267,2:71191351:C>T,NM_001692.3:c.1144-217C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,1.699,\N,\N,ATP6V1B1
440268,2:71191376:T>C,NM_001692.3:c.1144-192T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,1.419,\N,\N,ATP6V1B1
440269,2:71191403:T>C,NM_001692.3:c.1144-165T>C,\N,\N,11/13,Unknown significance,\N,intron_variant,1.329,0.001,1KG_EAS_AF,ATP6V1B1
440270,2:71191419:G>A,NM_001692.3:c.1144-149G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,6.126,\N,\N,ATP6V1B1
440271,2:71191423:T>C,NM_001692.3:c.1144-145T>C,\N,\N,11/13,Benign,\N,intron_variant,0.051,0.006,1KG_EAS_AF,ATP6V1B1
440272,2:71191429:G>A,NM_001692.3:c.1144-139G>A,\N,\N,11/13,Unknown significance,\N,intron_variant,4.688,\N,\N,ATP6V1B1
440273,2:71191442:G>T,NM_001692.3:c.1144-126G>T,\N,\N,11/13,Unknown significance,\N,intron_variant,0.729,0.001,1KG_SAS_AF,ATP6V1B1
440274,2:71191446:G>T,NM_001692.3:c.1144-122G>T,\N,\N,11/13,Unknown significance,\N,intron_variant,3.541,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ATP6V1B1
440275,2:71191453:T>TG,NM_001692.3:c.1144-114dup,\N,\N,11/13,Unknown significance,\N,intron_variant,\N,\N,\N,ATP6V1B1
440276,2:71191464:C>G,NM_001692.3:c.1144-104C>G,\N,\N,11/13,Benign,\N,intron_variant,2.549,0.0091,1KG_AFR_AF,ATP6V1B1
440277,2:71191524:G>C,NM_001692.3:c.1144-44G>C,\N,\N,11/13,Unknown significance,\N,intron_variant,2.101,0.0000150033,EXAC_NFE_AF,ATP6V1B1
440278,2:71191532:C>A,NM_001692.3:c.1144-36C>A,\N,\N,11/13,Unknown significance,\N,intron_variant,4.977,0.000116279,EVS_EA_AF,ATP6V1B1
440279,2:71191539:T>TCCA,NM_001692.3:c.1144-24_1144-22dup,\N,\N,11/13,Benign,\N,intron_variant,1.793,0.0184,1KG_SAS_AF,ATP6V1B1
440280,2:71191544:C>T,NM_001692.3:c.1144-24C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,5.777,0.0000149894,EXAC_NFE_AF,ATP6V1B1
440281,2:71191546:C>T,NM_001692.3:c.1144-22C>T,\N,\N,11/13,Unknown significance,\N,intron_variant,6.028,\N,\N,ATP6V1B1
440282,2:71191570:C>T,NM_001692.3:c.1146C>T,NP_001683.2:p.Ile382=,12/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.49,0.000231107,EXAC_EAS_AF,ATP6V1B1
440283,2:71191572:A>AC,NM_001692.3:c.1155dup,NP_001683.2:p.Ile386HisfsTer56,12/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,frameshift_variant,34,\N,\N,ATP6V1B1
440284,2:71191572:AC>A,NM_001692.3:c.1155del,NP_001683.2:p.Ile386SerfsTer10,12/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,frameshift_variant,32,\N,\N,ATP6V1B1
440285,2:71191573:C>T,NM_001692.3:c.1149C>T,NP_001683.2:p.Tyr383=,12/14,\N,Unknown significance,\N,synonymous_variant,10.48,0.0000150286,EXAC_NFE_AF,ATP6V1B1
440286,2:71191574:C>T,NM_001692.3:c.1150C>T,NP_001683.2:p.Pro384Ser,12/14,\N,Unknown significance,\N,missense_variant,28.9,0.0000863856,EXAC_AMR_AF,ATP6V1B1
440287,2:71191576:C>A,NM_001692.3:c.1152C>A,NP_001683.2:p.Pro384=,12/14,\N,Unknown significance,\N,synonymous_variant,15.5,0.000014984,EXAC_NFE_AF,ATP6V1B1
440288,2:71191577:C>G,NM_001692.3:c.1153C>G,NP_001683.2:p.Pro385Ala,12/14,\N,Unknown significance,\N,missense_variant,23.5,0.000060562,EXAC_SAS_AF,ATP6V1B1
440289,2:71191577:C>T,NM_001692.3:c.1153C>T,NP_001683.2:p.Pro385Ser,12/14,\N,Unknown significance,\N,missense_variant,29.3,0.000014984,EXAC_NFE_AF,ATP6V1B1
440290,2:71191578:C>G,NM_001692.3:c.1154C>G,NP_001683.2:p.Pro385Arg,12/14,\N,Unknown significance,\N,missense_variant,28.1,\N,\N,ATP6V1B1
440291,2:71191579:C>A,NM_001692.3:c.1155C>A,NP_001683.2:p.Pro385=,12/14,\N,Unknown significance,\N,synonymous_variant,15.28,0.000116279,EVS_EA_AF,ATP6V1B1
440292,2:71191585:C>G,NM_001692.3:c.1161C>G,NP_001683.2:p.Asn387Lys,12/14,\N,Unknown significance,\N,missense_variant,27,0.000232558,EVS_EA_AF,ATP6V1B1
440293,2:71191603:G>A,NM_001692.3:c.1179G>A,NP_001683.2:p.Ser393=,12/14,\N,Unknown significance,\N,synonymous_variant,14.21,0.001,1KG_SAS_AF,ATP6V1B1
440294,2:71191604:C>A,NM_001692.3:c.1180C>A,NP_001683.2:p.Arg394=,12/14,\N,Unknown significance,\N,synonymous_variant,21.1,0.00030281,EXAC_SAS_AF,ATP6V1B1
440295,2:71191605:G>A,NM_001692.3:c.1181G>A,NP_001683.2:p.Arg394Gln,12/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,missense_variant,34,\N,\N,ATP6V1B1
440296,2:71191611:T>C,NM_001692.3:c.1187T>C,NP_001683.2:p.Met396Thr,12/14,\N,Unknown significance,\N,missense_variant,23.3,0.0000299697,EXAC_NFE_AF,ATP6V1B1
440297,2:71191622:A>G,NM_001692.3:c.1198A>G,NP_001683.2:p.Ile400Val,12/14,\N,Unknown significance,\N,missense_variant,23.1,0.0000960984,EXAC_AFR_AF,ATP6V1B1
440298,2:71191623:T>C,NM_001692.3:c.1199T>C,NP_001683.2:p.Ile400Thr,12/14,\N,Unknown significance,\N,missense_variant,26.6,0.000226963,EVS_AA_AF,ATP6V1B1
440299,2:71191625:G>T,NM_001692.3:c.1201G>T,NP_001683.2:p.Gly401Trp,12/14,\N,Unknown significance,\N,missense_variant,33,0.0000149849,EXAC_NFE_AF,ATP6V1B1
440300,2:71191634:A>G,NM_001692.3:c.1210A>G,NP_001683.2:p.Met404Val,12/14,\N,Unknown significance,\N,missense_variant,16.6,0.0000299697,EXAC_NFE_AF,ATP6V1B1
440301,2:71191635:T>C,NM_001692.3:c.1211T>C,NP_001683.2:p.Met404Thr,12/14,\N,Unknown significance,\N,missense_variant,17.4,0.0000149849,EXAC_NFE_AF,ATP6V1B1
440302,2:71191645:G>A,NM_001692.3:c.1221G>A,NP_001683.2:p.Lys407=,12/14,\N,Unknown significance,\N,synonymous_variant,14.24,0.0000149853,EXAC_NFE_AF,ATP6V1B1
440303,2:71191647:A>G,NM_001692.3:c.1223A>G,NP_001683.2:p.Asp408Gly,12/14,\N,Unknown significance,\N,missense_variant,24.6,0.000115554,EXAC_EAS_AF,ATP6V1B1
440304,2:71191652:G>C,NM_001692.3:c.1228G>C,NP_001683.2:p.Gly410Arg,12/14,\N,Unknown significance,\N,missense_variant,21,0.0000449559,EXAC_NFE_AF,ATP6V1B1
440305,2:71191654:A>G,NM_001692.3:c.1230A>G,NP_001683.2:p.Gly410=,12/14,\N,Unknown significance,\N,synonymous_variant,9.021,0.00158874,EVS_AA_AF,ATP6V1B1
440306,2:71191658:G>A,NM_001692.3:c.1234G>A,NP_001683.2:p.Val412Ile,12/14,\N,Unknown significance,\N,missense_variant,22.7,0.0000149867,EXAC_NFE_AF,ATP6V1B1
440307,2:71191660:C>G,NM_001692.3:c.1236C>G,NP_001683.2:p.Val412=,12/14,\N,Unknown significance,\N,synonymous_variant,14.82,0.0023,1KG_AFR_AF,ATP6V1B1
440308,2:71191665:A>G,NM_001692.3:c.1241A>G,NP_001683.2:p.Asn414Ser,12/14,\N,Unknown significance,\N,missense_variant,24.3,0.000151194,EXAC_FIN_AF,ATP6V1B1
440309,2:71191665:A>AC,NM_001692.3:c.1243dup,NP_001683.2:p.Gln415ProfsTer27,12/14,\N,Pathogenic,Renal tubular acidosis & hearing loss,frameshift_variant,35,\N,\N,ATP6V1B1
440310,2:71191671:TG>T,NM_001692.3:c.1248+1del,\N,12/14,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,0.0000149912,EXAC_NFE_AF,ATP6V1B1
440311,2:71191681:A>G,NM_001692.3:c.1248+9A>G,\N,\N,12/13,Benign,\N,intron_variant,8.668,0.1074,1KG_AFR_AF,ATP6V1B1
440312,2:71191691:G>T,NM_001692.3:c.1248+19G>T,\N,\N,12/13,Unknown significance,\N,intron_variant,1.702,0.0000150485,EXAC_NFE_AF,ATP6V1B1
440313,2:71191694:G>A,NM_001692.3:c.1248+22G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,6.687,0.0000150521,EXAC_NFE_AF,ATP6V1B1
440314,2:71191695:G>A,NM_001692.3:c.1248+23G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,6.376,0.0000964878,EXAC_AFR_AF,ATP6V1B1
440315,2:71191696:C>G,NM_001692.3:c.1248+24C>G,\N,\N,12/13,Unknown significance,\N,intron_variant,5.92,0.0008,1KG_AFR_AF,ATP6V1B1
440316,2:71191702:G>A,NM_001692.3:c.1248+30G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,5.887,0.0014,1KG_AMR_AF,ATP6V1B1
440317,2:71191710:A>G,NM_001692.3:c.1248+38A>G,\N,\N,12/13,Unknown significance,\N,intron_variant,7.258,\N,\N,ATP6V1B1
440318,2:71191716:C>T,NM_001692.3:c.1248+44C>T,\N,\N,12/13,Unknown significance,\N,intron_variant,7.778,\N,\N,ATP6V1B1
440319,2:71191717:G>A,NM_001692.3:c.1248+45G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,10.35,0.0000607312,EXAC_SAS_AF,ATP6V1B1
440320,2:71191739:T>A,NM_001692.3:c.1248+67T>A,\N,\N,12/13,Unknown significance,\N,intron_variant,8.191,0.0008,1KG_AFR_AF,ATP6V1B1
440321,2:71191751:G>A,NM_001692.3:c.1248+79G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,5.182,\N,\N,ATP6V1B1
440322,2:71191777:C>T,NM_001692.3:c.1249-89C>T,\N,\N,12/13,Benign,\N,intron_variant,6.599,0.6548,1KG_EAS_AF,ATP6V1B1
440323,2:71191797:C>T,NM_001692.3:c.1249-69C>T,\N,\N,12/13,Unknown significance,\N,intron_variant,7.978,\N,\N,ATP6V1B1
440324,2:71191808:G>T,NM_001692.3:c.1249-58G>T,\N,\N,12/13,Unknown significance,\N,intron_variant,4.095,0.001,1KG_EUR_AF,ATP6V1B1
440325,2:71191819:C>A,NM_001692.3:c.1249-47C>A,\N,\N,12/13,Unknown significance,\N,intron_variant,8.202,0.0000305595,EXAC_NFE_AF,ATP6V1B1
440326,2:71191821:C>T,NM_001692.3:c.1249-45C>T,\N,\N,12/13,Unknown significance,\N,intron_variant,7.945,0.000015291,EXAC_NFE_AF,ATP6V1B1
440327,2:71191827:A>G,NM_001692.3:c.1249-39A>G,\N,\N,12/13,Unknown significance,\N,intron_variant,3.82,0.000226963,EVS_AA_AF,ATP6V1B1
440328,2:71191835:AGCGGCCACCGAC>A,NM_001692.3:c.1249-28_1249-17del,\N,\N,12/13,Unknown significance,\N,intron_variant,5.772,\N,\N,ATP6V1B1
440329,2:71191837:C>A,NM_001692.3:c.1249-29C>A,\N,\N,12/13,Unknown significance,\N,intron_variant,10.37,0.001,1KG_EAS_AF,ATP6V1B1
440330,2:71191839:G>A,NM_001692.3:c.1249-27G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,7.043,0.000102229,EXAC_AFR_AF,ATP6V1B1
440331,2:71191845:G>C,NM_001692.3:c.1249-21G>C,\N,\N,12/13,Unknown significance,\N,intron_variant,2.127,0.0000606428,EXAC_SAS_AF,ATP6V1B1
440332,2:71191846:A>G,NM_001692.3:c.1249-20A>G,\N,\N,12/13,Unknown significance,\N,intron_variant,3.795,0.00010142,EXAC_AFR_AF,ATP6V1B1
440333,2:71191847:C>T,NM_001692.3:c.1249-19C>T,\N,\N,12/13,Unknown significance,\N,intron_variant,8.185,0.0000152756,EXAC_NFE_AF,ATP6V1B1
440334,2:71191848:G>C,NM_001692.3:c.1249-18G>C,\N,\N,12/13,Benign,\N,intron_variant,2.492,0.0085113,EXAC_FIN_AF,ATP6V1B1
440335,2:71191848:G>T,NM_001692.3:c.1249-18G>T,\N,\N,12/13,Unknown significance,\N,intron_variant,3.573,0.0000606428,EXAC_SAS_AF,ATP6V1B1
440336,2:71191853:G>A,NM_001692.3:c.1249-13G>A,\N,\N,12/13,Unknown significance,\N,intron_variant,6.944,0.0000606134,EXAC_SAS_AF,ATP6V1B1
440337,2:71191855:C>T,NM_001692.3:c.1249-11C>T,\N,\N,12/13,Unknown significance,\N,intron_variant,9.049,0.0000609868,EXAC_NFE_AF,ATP6V1B1
440338,2:71191868:C>G,NM_001692.3:c.1251C>G,NP_001683.2:p.Tyr417Ter,13/14,\N,Pathogenic,Renal tubular acidosis,stop_gained&splice_region_variant,35,\N,\N,ATP6V1B1
440339,2:71191876:A>G,NM_001692.3:c.1259A>G,NP_001683.2:p.Tyr420Cys,13/14,\N,Unknown significance,\N,missense_variant,28.6,0.0000605987,EXAC_SAS_AF,ATP6V1B1
440340,2:71191883:C>G,NM_001692.3:c.1266C>G,NP_001683.2:p.Ile422Met,13/14,\N,Likely benign,\N,missense_variant,22.9,0.000116279,EVS_EA_AF,ATP6V1B1
440341,2:71191884:G>A,NM_001692.3:c.1267G>A,NP_001683.2:p.Gly423Arg,13/14,\N,Unknown significance,\N,missense_variant,34,0.0000151368,EXAC_NFE_AF,ATP6V1B1
440342,2:71191885:G>A,NM_001692.3:c.1268G>A,NP_001683.2:p.Gly423Glu,13/14,\N,Unknown significance,\N,missense_variant,32,0.0000605914,EXAC_SAS_AF,ATP6V1B1
440343,2:71191892:C>A,NM_001692.3:c.1275C>A,NP_001683.2:p.Asp425Glu,13/14,\N,Likely benign,\N,missense_variant,22,0.00015361,EXAC_FIN_AF,ATP6V1B1
440344,2:71191892:C>G,NM_001692.3:c.1275C>G,NP_001683.2:p.Asp425Glu,13/14,\N,Likely benign,\N,missense_variant,19.95,0.0000151236,EXAC_NFE_AF,ATP6V1B1
440345,2:71191892:C>T,NM_001692.3:c.1275C>T,NP_001683.2:p.Asp425=,13/14,\N,Unknown significance,\N,synonymous_variant,19.4,0.000115955,EXAC_EAS_AF,ATP6V1B1
440346,2:71191893:G>A,NM_001692.3:c.1276G>A,NP_001683.2:p.Val426Met,13/14,\N,Benign,\N,missense_variant,33,0.0051,1KG_SAS_AF,ATP6V1B1
440347,2:71191896:C>A,NM_001692.3:c.1279C>A,NP_001683.2:p.Gln427Lys,13/14,\N,Likely benign,\N,missense_variant,23.3,0.0000151117,EXAC_NFE_AF,ATP6V1B1
440348,2:71191903:T>C,NM_001692.3:c.1286T>C,NP_001683.2:p.Met429Thr,13/14,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,ATP6V1B1
440349,2:71191904:G>A,NM_001692.3:c.1287G>A,NP_001683.2:p.Met429Ile,13/14,\N,Unknown significance,\N,missense_variant,25,0.0015,1KG_AFR_AF,ATP6V1B1
440350,2:71191910:A>C,NM_001692.3:c.1293A>C,NP_001683.2:p.Ala431=,13/14,\N,Unknown significance,\N,synonymous_variant,7.971,0.001,1KG_EUR_AF,ATP6V1B1
440351,2:71191915:T>C,NM_001692.3:c.1298T>C,NP_001683.2:p.Val433Ala,13/14,\N,Unknown significance,\N,missense_variant,24,0.002,1KG_SAS_AF,ATP6V1B1
440352,2:71191934:C>G,NM_001692.3:c.1317C>G,NP_001683.2:p.Thr439=,13/14,\N,Unknown significance,\N,synonymous_variant,14.58,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440353,2:71191937:T>G,NM_001692.3:c.1320T>G,NP_001683.2:p.Ser440=,13/14,\N,Benign,\N,synonymous_variant,9.736,0.0438312,EXAC_EAS_AF,ATP6V1B1
440354,2:71191943:C>T,NM_001692.3:c.1326C>T,NP_001683.2:p.Asp442=,13/14,\N,Unknown significance,\N,synonymous_variant,15.89,0.0000150571,EXAC_NFE_AF,ATP6V1B1
440355,2:71191945:T>C,NM_001692.3:c.1328T>C,NP_001683.2:p.Leu443Pro,13/14,\N,Unknown significance,\N,missense_variant,25.5,0.0008,1KG_AFR_AF,ATP6V1B1
440356,2:71191949:C>A,NM_001692.3:c.1332C>A,NP_001683.2:p.Leu444=,13/14,\N,Unknown significance,\N,synonymous_variant,17.72,0.0000150539,EXAC_NFE_AF,ATP6V1B1
440357,2:71191949:C>T,NM_001692.3:c.1332C>T,NP_001683.2:p.Leu444=,13/14,\N,Unknown significance,\N,synonymous_variant,15.45,0.000348837,EVS_EA_AF,ATP6V1B1
440358,2:71191953:C>G,NM_001692.3:c.1336C>G,NP_001683.2:p.Leu446Val,13/14,\N,Unknown significance,\N,missense_variant,23.8,0.000121168,EXAC_SAS_AF,ATP6V1B1
440359,2:71191970:GT>G,NM_001692.3:c.1356del,NP_001683.2:p.Phe452LeufsTer35,13/14,\N,Pathogenic,Renal tubular acidosis| sensorineural deafness,frameshift_variant,35,0.000347786,EXAC_EAS_AF,ATP6V1B1
440360,2:71191971:T>C,NM_001692.3:c.1354T>C,NP_001683.2:p.Phe452Leu,13/14,\N,Unknown significance,\N,missense_variant,25,0.0000865052,EXAC_AMR_AF,ATP6V1B1
440361,2:71191972:T>G,NM_001692.3:c.1355T>G,NP_001683.2:p.Phe452Cys,13/14,\N,Unknown significance,\N,missense_variant,26.9,0.0000150426,EXAC_NFE_AF,ATP6V1B1
440362,2:71192002:C>G,NM_001692.3:c.1378+7C>G,\N,\N,13/13,Unknown significance,\N,splice_region_variant&intron_variant,18.2,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440363,2:71192005:G>A,NM_001692.3:c.1378+10G>A,\N,\N,13/13,Unknown significance,\N,intron_variant,17.34,0.00129735,EXAC_AMR_AF,ATP6V1B1
440364,2:71192014:G>A,NM_001692.3:c.1378+19G>A,\N,\N,13/13,Unknown significance,\N,intron_variant,6.74,0.000105257,EXAC_NFE_AF,ATP6V1B1
440365,2:71192016:G>T,NM_001692.3:c.1378+21G>T,\N,\N,13/13,Unknown significance,\N,intron_variant,5.438,0.000259426,EXAC_AMR_AF,ATP6V1B1
440366,2:71192020:C>G,NM_001692.3:c.1378+25C>G,\N,\N,13/13,Unknown significance,\N,intron_variant,6.448,0.000096432,EXAC_AFR_AF,ATP6V1B1
440367,2:71192030:C>T,NM_001692.3:c.1378+35C>T,\N,\N,13/13,Unknown significance,\N,intron_variant,9.907,\N,\N,ATP6V1B1
440368,2:71192035:C>A,NM_001692.3:c.1378+40C>A,\N,\N,13/13,Unknown significance,\N,intron_variant,11.67,0.0014,1KG_AMR_AF,ATP6V1B1
440369,2:71192036:C>T,NM_001692.3:c.1378+41C>T,\N,\N,13/13,Unknown significance,\N,intron_variant,11.12,0.000030086,EXAC_NFE_AF,ATP6V1B1
440370,2:71192048:C>A,NM_001692.3:c.1379-40C>A,\N,\N,13/13,Unknown significance,\N,intron_variant,11.72,0.0000605767,EXAC_SAS_AF,ATP6V1B1
440371,2:71192055:C>T,NM_001692.3:c.1379-33C>T,\N,\N,13/13,Unknown significance,\N,intron_variant,11.9,0.0000150521,EXAC_NFE_AF,ATP6V1B1
440372,2:71192061:T>A,NM_001692.3:c.1379-27T>A,\N,\N,13/13,Unknown significance,\N,intron_variant,9.866,0.000116279,EVS_EA_AF,ATP6V1B1
440373,2:71192062:A>T,NM_001692.3:c.1379-26A>T,\N,\N,13/13,Unknown significance,\N,intron_variant,7.074,0.0000865052,EXAC_AMR_AF,ATP6V1B1
440374,2:71192064:C>G,NM_001692.3:c.1379-24C>G,\N,\N,13/13,Unknown significance,\N,intron_variant,7.663,0.000115929,EXAC_EAS_AF,ATP6V1B1
440375,2:71192066:C>G,NM_001692.3:c.1379-22C>G,\N,\N,13/13,Unknown significance,\N,intron_variant,8.245,\N,\N,ATP6V1B1
440376,2:71192080:G>A,NM_001692.3:c.1379-8G>A,\N,\N,13/13,Unknown significance,\N,splice_region_variant&intron_variant,11.41,0.0000301405,EXAC_NFE_AF,ATP6V1B1
440377,2:71192089:C>T,NM_001692.3:c.1380C>T,NP_001683.2:p.Gly460=,14/14,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.29,0.000116279,EVS_EA_AF,ATP6V1B1
440378,2:71192090:C>A,NM_001692.3:c.1381C>A,NP_001683.2:p.Pro461Thr,14/14,\N,Likely benign,\N,missense_variant&splice_region_variant,17.07,0.000060584,EXAC_SAS_AF,ATP6V1B1
440379,2:71192091:C>T,NM_001692.3:c.1382C>T,NP_001683.2:p.Pro461Leu,14/14,\N,Likely benign,\N,missense_variant,22.9,0.00024132,EXAC_NFE_AF,ATP6V1B1
440380,2:71192092:C>G,NM_001692.3:c.1383C>G,NP_001683.2:p.Pro461=,14/14,\N,Unknown significance,\N,synonymous_variant,15.33,0.0000864753,EXAC_AMR_AF,ATP6V1B1
440381,2:71192096:G>C,NM_001692.3:c.1387G>C,NP_001683.2:p.Glu463Gln,14/14,\N,Unknown significance,\N,missense_variant,31,0.0000150871,EXAC_NFE_AF,ATP6V1B1
440382,2:71192103:G>A,NM_001692.3:c.1394G>A,NP_001683.2:p.Arg465His,14/14,\N,Benign*,\N,missense_variant,35,0.0184,1KG_SAS_AF,ATP6V1B1
440383,2:71192106:C>T,NM_001692.3:c.1397C>T,NP_001683.2:p.Ser466Leu,14/14,\N,Unknown significance,\N,missense_variant,27.2,0.000060584,EXAC_SAS_AF,ATP6V1B1
440384,2:71192107:G>C,NM_001692.3:c.1398G>C,NP_001683.2:p.Ser466=,14/14,\N,Unknown significance,\N,synonymous_variant,14.87,0.000115982,EXAC_EAS_AF,ATP6V1B1
440385,2:71192114:G>A,NM_001692.3:c.1405G>A,NP_001683.2:p.Glu469Lys,14/14,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,ATP6V1B1
440386,2:71192119:G>T,NM_001692.3:c.1410G>T,NP_001683.2:p.Ser470=,14/14,\N,Unknown significance,\N,synonymous_variant,15.41,0.0000864902,EXAC_AMR_AF,ATP6V1B1
440387,2:71192120:C>T,NM_001692.3:c.1411C>T,NP_001683.2:p.Leu471=,14/14,\N,Unknown significance,\N,synonymous_variant,17.63,0.0000864902,EXAC_AMR_AF,ATP6V1B1
440388,2:71192122:G>A,NM_001692.3:c.1413G>A,NP_001683.2:p.Leu471=,14/14,\N,Unknown significance,\N,synonymous_variant,13.57,0.000181752,EXAC_SAS_AF,ATP6V1B1
440389,2:71192125:C>G,NM_001692.3:c.1416C>G,NP_001683.2:p.Asp472Glu,14/14,\N,Unknown significance,\N,missense_variant,23.4,0.000116279,EVS_EA_AF,ATP6V1B1
440390,2:71192126:C>T,NM_001692.3:c.1417C>T,NP_001683.2:p.Leu473=,14/14,\N,Unknown significance,\N,synonymous_variant,16.77,0.0000151016,EXAC_NFE_AF,ATP6V1B1
440391,2:71192133:G>A,NM_001692.3:c.1424G>A,NP_001683.2:p.Trp475Ter,14/14,\N,Unknown significance,\N,stop_gained,42,0.000116279,EVS_EA_AF,ATP6V1B1
440392,2:71192134:GA>G,NM_001692.3:c.1427del,NP_001683.2:p.Lys476SerfsTer11,14/14,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ATP6V1B1
440393,2:71192140:G>A,NM_001692.3:c.1431G>A,NP_001683.2:p.Leu477=,14/14,\N,Unknown significance,\N,synonymous_variant,14.31,0.0000151332,EXAC_NFE_AF,ATP6V1B1
440394,2:71192147:A>G,NM_001692.3:c.1438A>G,NP_001683.2:p.Ile480Val,14/14,\N,Unknown significance,\N,missense_variant,23,0.000116171,EXAC_EAS_AF,ATP6V1B1
440395,2:71192152:C>G,NM_001692.3:c.1443C>G,NP_001683.2:p.Phe481Leu,14/14,\N,Likely benign,\N,missense_variant,17.29,0.0000151694,EXAC_NFE_AF,ATP6V1B1
440396,2:71192156:A>T,NM_001692.3:c.1447A>T,NP_001683.2:p.Lys483Ter,14/14,\N,Unknown significance,\N,stop_gained,47,0.0000151893,EXAC_NFE_AF,ATP6V1B1
440397,2:71192157:A>T,NM_001692.3:c.1448A>T,NP_001683.2:p.Lys483Met,14/14,\N,Unknown significance,\N,missense_variant,31,0.000348837,EVS_EA_AF,ATP6V1B1
440398,2:71192171:C>A,NM_001692.3:c.1462C>A,NP_001683.2:p.Arg488Ser,14/14,\N,Unknown significance,\N,missense_variant,34,0.000116387,EXAC_EAS_AF,ATP6V1B1
440399,2:71192172:G>T,NM_001692.3:c.1463G>T,NP_001683.2:p.Arg488Leu,14/14,\N,Unknown significance,\N,missense_variant,33,0.00015124,EXAC_FIN_AF,ATP6V1B1
440400,2:71192174:A>G,NM_001692.3:c.1465A>G,NP_001683.2:p.Ile489Val,14/14,\N,Unknown significance,\N,missense_variant,13.74,0.0000152541,EXAC_NFE_AF,ATP6V1B1
440401,2:71192178:C>T,NM_001692.3:c.1469C>T,NP_001683.2:p.Pro490Leu,14/14,\N,Unknown significance,\N,missense_variant,28.2,0.002,1KG_SAS_AF,ATP6V1B1
440402,2:71192187:T>C,NM_001692.3:c.1478T>C,NP_001683.2:p.Val493Ala,14/14,\N,Likely benign,\N,missense_variant,10.6,0.0000153069,EXAC_NFE_AF,ATP6V1B1
440403,2:71192188:G>C,NM_001692.3:c.1479G>C,NP_001683.2:p.Val493=,14/14,\N,Unknown significance,\N,synonymous_variant,11.01,0.0000153135,EXAC_NFE_AF,ATP6V1B1
440404,2:71192189:A>G,NM_001692.3:c.1480A>G,NP_001683.2:p.Ile494Val,14/14,\N,Likely benign,\N,missense_variant,4.778,0.0000153144,EXAC_NFE_AF,ATP6V1B1
440405,2:71192195:G>A,NM_001692.3:c.1486G>A,NP_001683.2:p.Glu496Lys,14/14,\N,Unknown significance,\N,missense_variant,19.83,0.0000606428,EXAC_SAS_AF,ATP6V1B1
440406,2:71192202:A>G,NM_001692.3:c.1493A>G,NP_001683.2:p.Tyr498Cys,14/14,\N,Unknown significance,\N,missense_variant,28.1,0.0014,1KG_AMR_AF,ATP6V1B1
440407,2:71192204:T>C,NM_001692.3:c.1495T>C,NP_001683.2:p.Ser499Pro,14/14,\N,Likely benign,\N,missense_variant,12.66,\N,\N,ATP6V1B1
440408,2:71192212:G>A,NM_001692.3:c.1503G>A,NP_001683.2:p.Glu501=,14/14,\N,Unknown significance,\N,synonymous_variant,16.55,0.0000155371,EXAC_NFE_AF,ATP6V1B1
440409,2:71192215:G>A,NM_001692.3:c.1506G>A,NP_001683.2:p.Gly502=,14/14,\N,Unknown significance,\N,synonymous_variant,15.34,0.0000868206,EXAC_AMR_AF,ATP6V1B1
440410,2:71192216:G>A,NM_001692.3:c.1507G>A,NP_001683.2:p.Ala503Thr,14/14,\N,Likely benign,\N,missense_variant,24.8,\N,\N,ATP6V1B1
440411,2:71192218:G>A,NM_001692.3:c.1509G>A,NP_001683.2:p.Ala503=,14/14,\N,Unknown significance,\N,synonymous_variant,16.65,\N,\N,ATP6V1B1
440412,2:71192224:G>A,NM_001692.3:c.1515G>A,NP_001683.2:p.Gln505=,14/14,\N,Unknown significance,\N,synonymous_variant,9,0.000909918,EVS_AA_AF,ATP6V1B1
440413,2:71192227:C>T,NM_001692.3:c.1518C>T,NP_001683.2:p.Asp506=,14/14,\N,Unknown significance,\N,synonymous_variant,14.23,0.0023,1KG_AFR_AF,ATP6V1B1
440414,2:71192231:G>C,NM_001692.3:c.1522G>C,NP_001683.2:p.Ala508Pro,14/14,\N,Likely benign,\N,missense_variant,14.09,0.0000608643,EXAC_SAS_AF,ATP6V1B1
440415,2:71192232:C>A,NM_001692.3:c.1523C>A,NP_001683.2:p.Ala508Glu,14/14,\N,Likely benign,\N,missense_variant,5.283,0.0000608717,EXAC_SAS_AF,ATP6V1B1
440416,2:71192237:G>A,NM_001692.3:c.1528G>A,NP_001683.2:p.Asp510Asn,14/14,\N,Likely benign,\N,missense_variant,21.8,0.000087108,EXAC_AMR_AF,ATP6V1B1
440417,2:71192242:T>C,NM_001692.3:c.1533T>C,NP_001683.2:p.Thr511=,14/14,\N,Unknown significance,\N,synonymous_variant,1.83,0.000110717,EXAC_NFE_AF,ATP6V1B1
440418,2:71192247:T>C,NM_001692.3:c.1538T>C,NP_001683.2:p.Leu513Pro,14/14,\N,Likely benign,\N,missense_variant,24.5,0.0000158871,EXAC_NFE_AF,ATP6V1B1
440419,2:71192257:C>A,NM_001692.3:c.*6C>A,\N,14/14,\N,Benign,\N,3_prime_UTR_variant,11.37,0.0283863,EXAC_FIN_AF,ATP6V1B1
440420,2:71192262:C>T,NM_001692.3:c.*11C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,10.47,0.000119531,EXAC_EAS_AF,ATP6V1B1
440421,2:71192263:G>A,NM_001692.3:c.*12G>A,\N,14/14,\N,Benign,\N,3_prime_UTR_variant,10.2,0.1051,1KG_AFR_AF,ATP6V1B1
440422,2:71192267:C>T,NM_001692.3:c.*16C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,8.474,0.0000161176,EXAC_NFE_AF,ATP6V1B1
440423,2:71192279:G>C,NM_001692.3:c.*28G>C,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,7.6,0.00048158,EXAC_EAS_AF,ATP6V1B1
440424,2:71192286:AACCT>A,NM_001692.3:c.*39_*42del,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,10.42,0.0000163811,EXAC_NFE_AF,ATP6V1B1
440425,2:71192288:C>A,NM_001692.3:c.*37C>A,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,10.67,0.0015,1KG_AFR_AF,ATP6V1B1
440426,2:71192295:T>C,NM_001692.3:c.*44T>C,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,6.521,0.0000891424,EXAC_AMR_AF,ATP6V1B1
440427,2:71192296:C>G,NM_001692.3:c.*45C>G,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,8.33,0.0000334874,EXAC_NFE_AF,ATP6V1B1
440428,2:71192296:C>T,NM_001692.3:c.*45C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,9.549,0.000235294,EVS_AA_AF,ATP6V1B1
440429,2:71192313:C>T,NM_001692.3:c.*62C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,8.788,\N,\N,ATP6V1B1
440430,2:71192319:C>T,NM_001692.3:c.*68C>T,\N,14/14,\N,Benign,\N,3_prime_UTR_variant,10.6,0.0278,1KG_EAS_AF,ATP6V1B1
440431,2:71192331:C>T,NM_001692.3:c.*80C>T,\N,14/14,\N,Benign,\N,3_prime_UTR_variant,9.501,0.0188,1KG_EAS_AF,ATP6V1B1
440432,2:71192335:G>A,NM_001692.3:c.*84G>A,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,8.58,0.0008,1KG_AFR_AF,ATP6V1B1
440433,2:71192337:C>T,NM_001692.3:c.*86C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,9.686,\N,\N,ATP6V1B1
440434,2:71192340:C>T,NM_001692.3:c.*89C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,10.87,\N,\N,ATP6V1B1
440435,2:71192353:C>T,NM_001692.3:c.*102C>T,\N,14/14,\N,Benign,\N,3_prime_UTR_variant,10.64,0.0121,1KG_AFR_AF,ATP6V1B1
440436,2:71192362:C>G,NM_001692.3:c.*111C>G,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,8.866,0.0008,1KG_AFR_AF,ATP6V1B1
440437,2:71192380:G>T,NM_001692.3:c.*129G>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,7.608,0.0015,1KG_AFR_AF,ATP6V1B1
440438,2:71192396:A>C,NM_001692.3:c.*145A>C,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,6.248,0.0008,1KG_AFR_AF,ATP6V1B1
440439,2:71192425:C>T,NM_001692.3:c.*174C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,11.04,0.0015,1KG_AFR_AF,ATP6V1B1
440440,2:71192438:T>TC,NM_001692.3:c.*192dup,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,6.213,0.0014,1KG_AMR_AF,ATP6V1B1
440441,2:71192442:C>T,NM_001692.3:c.*191C>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,9.179,0.0008,1KG_AFR_AF,ATP6V1B1
440442,2:71192453:G>C,NM_001692.3:c.*202G>C,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,5.229,\N,\N,ATP6V1B1
440443,2:71192539:A>T,NM_001692.3:c.*288A>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,7.772,0.0015,1KG_AFR_AF,ATP6V1B1
440444,2:71192546:A>T,NM_001692.3:c.*295A>T,\N,14/14,\N,Unknown significance,\N,3_prime_UTR_variant,5.659,0.001,1KG_EAS_AF,ATP6V1B