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
8068,1:55464619:G>A,NM_057176.2:c.-241G>A,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,8.44,0.1954,1KG_EAS_AF,BSND
8069,1:55464659:A>C,NM_057176.2:c.-201A>C,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,1.981,\N,\N,BSND
8070,1:55464662:G>A,NM_057176.2:c.-198G>A,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,5.986,0.0083,1KG_AFR_AF,BSND
8071,1:55464666:C>T,NM_057176.2:c.-194C>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,6.458,0.0008,1KG_AFR_AF,BSND
8072,1:55464667:G>T,NM_057176.2:c.-193G>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.141,0.001,1KG_EUR_AF,BSND
8073,1:55464677:C>A,NM_057176.2:c.-183C>A,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,12.04,0.001,1KG_EAS_AF,BSND
8074,1:55464691:G>C,NM_057176.2:c.-169G>C,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,9.109,\N,\N,BSND
8075,1:55464704:G>C,NM_057176.2:c.-156G>C,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,3.603,0.0403,1KG_AMR_AF,BSND
8076,1:55464710:G>T,NM_057176.2:c.-150G>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.414,0.001,1KG_EUR_AF,BSND
8077,1:55464711:A>G,NM_057176.2:c.-149A>G,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.701,0.0008,1KG_AFR_AF,BSND
8078,1:55464743:T>C,NM_057176.2:c.-117T>C,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,1.355,0.7594,1KG_EUR_AF,BSND
8079,1:55464744:G>A,NM_057176.2:c.-116G>A,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,3.021,0.001,1KG_SAS_AF,BSND
8080,1:55464777:T>C,NM_057176.2:c.-83T>C,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,1.118,\N,\N,BSND
8081,1:55464782:G>A,NM_057176.2:c.-78G>A,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,7.24,0.001,1KG_EAS_AF,BSND
8082,1:55464790:C>G,NM_057176.2:c.-70C>G,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,7.078,0.7594,1KG_EUR_AF,BSND
8083,1:55464814:A>C,NM_057176.2:c.-46A>C,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,1.299,0.00010514,EXAC_NFE_AF,BSND
8084,1:55464815:C>A,NM_057176.2:c.-45C>A,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,8.8,0.0000150231,EXAC_NFE_AF,BSND
8085,1:55464816:C>T,NM_057176.2:c.-44C>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,7.257,0.000930233,EVS_EA_AF,BSND
8086,1:55464817:C>G,NM_057176.2:c.-43C>G,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,2.614,\N,\N,BSND
8087,1:55464817:C>T,NM_057176.2:c.-43C>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.407,0.0000150173,EXAC_NFE_AF,BSND
8088,1:55464818:C>G,NM_057176.2:c.-42C>G,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.36,\N,\N,BSND
8089,1:55464825:C>T,NM_057176.2:c.-35C>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,8.245,0.000116279,EVS_EA_AF,BSND
8090,1:55464826:G>A,NM_057176.2:c.-34G>A,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,5.993,0.0000901199,EXAC_NFE_AF,BSND
8091,1:55464830:G>C,NM_057176.2:c.-30G>C,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,11.55,0.000045045,EXAC_NFE_AF,BSND
8092,1:55464835:C>T,NM_057176.2:c.-25C>T,\N,1/4,\N,Benign,\N,5_prime_UTR_variant,13.69,0.0204,1KG_AFR_AF,BSND
8093,1:55464859:C>T,NM_057176.2:c.-1C>T,\N,1/4,\N,Unknown significance,\N,5_prime_UTR_variant,16.83,0.000288962,EXAC_AFR_AF,BSND
8094,1:55464860:A>T,NM_057176.2:c.1A>T,NP_476517.1:p.Met1?,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,start_lost,26.3,\N,\N,BSND
8095,1:55464861:T>A,NM_057176.2:c.2T>A,NP_476517.1:p.Met1?,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,start_lost,28.1,\N,\N,BSND
8096,1:55464862:G>A,NM_057176.2:c.3G>A,NP_476517.1:p.Met1?,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,start_lost,27.6,0.0000963391,EXAC_AFR_AF,BSND
8097,1:55464868:C>A,NM_057176.2:c.9C>A,NP_476517.1:p.Asp3Glu,1/4,\N,Likely benign,\N,missense_variant,0.718,0.0000863856,EXAC_AMR_AF,BSND
8098,1:55464868:C>T,NM_057176.2:c.9C>T,NP_476517.1:p.Asp3=,1/4,\N,Unknown significance,\N,synonymous_variant,15.44,0.000453926,EVS_AA_AF,BSND
8099,1:55464869:G>T,NM_057176.2:c.10G>T,NP_476517.1:p.Glu4Ter,1/4,\N,Pathogenic,Bartter syndrome,stop_gained,38,0.000060562,EXAC_SAS_AF,BSND
8100,1:55464869:G>A,NM_057176.2:c.10G>A,NP_476517.1:p.Glu4Lys,1/4,\N,Unknown significance,\N,missense_variant,27,0.001,1KG_EAS_AF,BSND
8101,1:55464875:A>G,NM_057176.2:c.16A>G,NP_476517.1:p.Thr6Ala,1/4,\N,Unknown significance,\N,missense_variant,23,0.00323699,EXAC_EAS_AF,BSND
8102,1:55464875:AC>A,NM_057176.2:c.18del,NP_476517.1:p.Phe7SerfsTer20,1/4,\N,Unknown significance,\N,frameshift_variant,33,0.0000149993,EXAC_NFE_AF,BSND
8103,1:55464876:C>A,NM_057176.2:c.17C>A,NP_476517.1:p.Thr6Asn,1/4,\N,Unknown significance,\N,missense_variant,27.7,0.0000149993,EXAC_NFE_AF,BSND
8104,1:55464881:C>T,NM_057176.2:c.22C>T,NP_476517.1:p.Arg8Trp,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,missense_variant,34,0.001,1KG_EAS_AF,BSND
8105,1:55464882:G>T,NM_057176.2:c.23G>T,NP_476517.1:p.Arg8Leu,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,missense_variant,33,\N,\N,BSND
8106,1:55464882:G>A,NM_057176.2:c.23G>A,NP_476517.1:p.Arg8Gln,1/4,\N,Unknown significance,\N,missense_variant,34,0.00331126,EXAC_OTH_AF,BSND
8107,1:55464886:C>T,NM_057176.2:c.27C>T,NP_476517.1:p.Ile9=,1/4,\N,Unknown significance,\N,synonymous_variant,17.57,0.000116279,EVS_EA_AF,BSND
8108,1:55464887:G>A,NM_057176.2:c.28G>A,NP_476517.1:p.Gly10Ser,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,missense_variant,32,0.000060562,EXAC_SAS_AF,BSND
8109,1:55464890:T>A,NM_057176.2:c.31T>A,NP_476517.1:p.Phe11Ile,1/4,\N,Unknown significance,\N,missense_variant,27.6,0.0000149966,EXAC_NFE_AF,BSND
8110,1:55464894:T>C,NM_057176.2:c.35T>C,NP_476517.1:p.Ile12Thr,1/4,\N,Pathogenic,Deafness| nonsyndromic,missense_variant,26,0.000181686,EXAC_SAS_AF,BSND
8111,1:55464895:T>C,NM_057176.2:c.36T>C,NP_476517.1:p.Ile12=,1/4,\N,Unknown significance,\N,synonymous_variant,5.863,0.000014997,EXAC_NFE_AF,BSND
8112,1:55464898:G>T,NM_057176.2:c.39G>T,NP_476517.1:p.Val13=,1/4,\N,Unknown significance,\N,synonymous_variant,9.439,0.0008,1KG_AFR_AF,BSND
8113,1:55464911:C>G,NM_057176.2:c.52C>G,NP_476517.1:p.Leu18Val,1/4,\N,Unknown significance,\N,missense_variant,25.8,0.000484496,EXAC_SAS_AF,BSND
8114,1:55464914:C>G,NM_057176.2:c.55C>G,NP_476517.1:p.Leu19Val,1/4,\N,Unknown significance,\N,missense_variant,23.1,0.000044987,EXAC_NFE_AF,BSND
8115,1:55464915:T>C,NM_057176.2:c.56T>C,NP_476517.1:p.Leu19Pro,1/4,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,BSND
8116,1:55464916:G>A,NM_057176.2:c.57G>A,NP_476517.1:p.Leu19=,1/4,\N,Unknown significance,\N,synonymous_variant,9.871,0.0000299949,EXAC_NFE_AF,BSND
8117,1:55464922:C>T,NM_057176.2:c.63C>T,NP_476517.1:p.Leu21=,1/4,\N,Benign,\N,synonymous_variant,10.49,0.0123547,EXAC_SAS_AF,BSND
8118,1:55464923:G>A,NM_057176.2:c.64G>A,NP_476517.1:p.Gly22Ser,1/4,\N,Unknown significance,\N,missense_variant,27.3,0.000453926,EVS_AA_AF,BSND
8119,1:55464923:G>C,NM_057176.2:c.64G>C,NP_476517.1:p.Gly22Arg,1/4,\N,Unknown significance,\N,missense_variant,26.6,0.0000149966,EXAC_NFE_AF,BSND
8120,1:55464924:G>A,NM_057176.2:c.65G>A,NP_476517.1:p.Gly22Asp,1/4,\N,Unknown significance,\N,missense_variant,25.6,0.001,1KG_SAS_AF,BSND
8121,1:55464927:C>T,NM_057176.2:c.68C>T,NP_476517.1:p.Thr23Met,1/4,\N,Unknown significance,\N,missense_variant,23.2,0.00023116,EXAC_EAS_AF,BSND
8122,1:55464928:G>A,NM_057176.2:c.69G>A,NP_476517.1:p.Thr23=,1/4,\N,Unknown significance,\N,synonymous_variant,8.728,0.0010579,EXAC_AFR_AF,BSND
8123,1:55464931:C>T,NM_057176.2:c.72C>T,NP_476517.1:p.Phe24=,1/4,\N,Unknown significance,\N,synonymous_variant,14.14,0.000151423,EXAC_FIN_AF,BSND
8124,1:55464934:C>T,NM_057176.2:c.75C>T,NP_476517.1:p.Leu25=,1/4,\N,Unknown significance,\N,synonymous_variant,12.74,0.000693481,EXAC_EAS_AF,BSND
8125,1:55464942:A>T,NM_057176.2:c.83A>T,NP_476517.1:p.His28Leu,1/4,\N,Unknown significance,\N,missense_variant,23.3,0.00011558,EXAC_EAS_AF,BSND
8126,1:55464946:T>C,NM_057176.2:c.87T>C,NP_476517.1:p.Asp29=,1/4,\N,Unknown significance,\N,synonymous_variant,3.425,0.000151469,EXAC_FIN_AF,BSND
8127,1:55464947:C>T,NM_057176.2:c.88C>T,NP_476517.1:p.Arg30Trp,1/4,\N,Unknown significance,\N,missense_variant,33,0.00011558,EXAC_EAS_AF,BSND
8128,1:55464948:G>A,NM_057176.2:c.89G>A,NP_476517.1:p.Arg30Gln,1/4,\N,Unknown significance,\N,missense_variant,23.5,0.003,1KG_EAS_AF,BSND
8129,1:55464950:C>G,NM_057176.2:c.91C>G,NP_476517.1:p.Pro31Ala,1/4,\N,Unknown significance,\N,missense_variant,25.4,0.001,1KG_SAS_AF,BSND
8130,1:55464953:C>T,NM_057176.2:c.94C>T,NP_476517.1:p.Gln32Ter,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,stop_gained,37,\N,\N,BSND
8131,1:55464956:G>A,NM_057176.2:c.97G>A,NP_476517.1:p.Val33Ile,1/4,\N,Unknown significance,\N,missense_variant,16.62,0.000015002,EXAC_NFE_AF,BSND
8132,1:55464956:G>C,NM_057176.2:c.97G>C,NP_476517.1:p.Val33Leu,1/4,\N,Pathogenic,Deafness| nonsyndromic,missense_variant,24.5,0.0000961354,EXAC_AFR_AF,BSND
8133,1:55464958:C>G,NM_057176.2:c.99C>G,NP_476517.1:p.Val33=,1/4,\N,Unknown significance,\N,synonymous_variant,11.46,0.0000961538,EXAC_AFR_AF,BSND
8134,1:55464961:C>T,NM_057176.2:c.102C>T,NP_476517.1:p.Tyr34=,1/4,\N,Unknown significance,\N,synonymous_variant,9.753,0.00110375,EXAC_OTH_AF,BSND
8135,1:55464966:C>T,NM_057176.2:c.107C>T,NP_476517.1:p.Thr36Ile,1/4,\N,Unknown significance,\N,missense_variant,27.1,0.000015006,EXAC_NFE_AF,BSND
8136,1:55464968:T>A,NM_057176.2:c.109T>A,NP_476517.1:p.Phe37Ile,1/4,\N,Unknown significance,\N,missense_variant,26.3,0.000116279,EVS_EA_AF,BSND
8137,1:55464970:C>T,NM_057176.2:c.111C>T,NP_476517.1:p.Phe37=,1/4,\N,Unknown significance,\N,synonymous_variant,10.31,0.000060562,EXAC_SAS_AF,BSND
8138,1:55464972:A>G,NM_057176.2:c.113A>G,NP_476517.1:p.Tyr38Cys,1/4,\N,Unknown significance,\N,missense_variant,23.4,0.000226963,EVS_AA_AF,BSND
8139,1:55464976:C>T,NM_057176.2:c.117C>T,NP_476517.1:p.Ala39=,1/4,\N,Unknown significance,\N,synonymous_variant,14.12,0.0000864304,EXAC_AMR_AF,BSND
8140,1:55464979:G>A,NM_057176.2:c.120G>A,NP_476517.1:p.Met40Ile,1/4,\N,Unknown significance,\N,missense_variant,26.3,0.000115554,EXAC_EAS_AF,BSND
8141,1:55464985:C>T,NM_057176.2:c.126C>T,NP_476517.1:p.Ser42=,1/4,\N,Unknown significance,\N,synonymous_variant,16.92,0.000232558,EVS_EA_AF,BSND
8142,1:55464986:G>A,NM_057176.2:c.127G>A,NP_476517.1:p.Val43Ile,1/4,\N,Benign,\N,missense_variant,0.045,0.1974,1KG_EAS_AF,BSND
8143,1:55464997:CG>C,NM_057176.2:c.143del,NP_476517.1:p.Gly48AlafsTer42,1/4,\N,Unknown significance,\N,frameshift_variant,33,0.0000608421,EXAC_SAS_AF,BSND
8144,1:55464997:C>G,NM_057176.2:c.138C>G,NP_476517.1:p.Ile46Met,1/4,\N,Likely benign,\N,missense_variant,12.94,0.000153046,EXAC_FIN_AF,BSND
8145,1:55464997:C>T,NM_057176.2:c.138C>T,NP_476517.1:p.Ile46=,1/4,\N,Unknown significance,\N,synonymous_variant,15.52,0.000612182,EXAC_FIN_AF,BSND
8146,1:55464998:G>A,NM_057176.2:c.139G>A,NP_476517.1:p.Gly47Arg,1/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,missense_variant,28.3,0.000453926,EVS_AA_AF,BSND
8147,1:55465000:G>C,NM_057176.2:c.141G>C,NP_476517.1:p.Gly47=,1/4,\N,Unknown significance,\N,synonymous_variant,8.058,0.00168608,EXAC_FIN_AF,BSND
8148,1:55465014:G>C,NM_057176.2:c.155G>C,NP_476517.1:p.Ser52Thr,1/4,\N,Unknown significance,\N,missense_variant,23.2,0.00111607,EXAC_OTH_AF,BSND
8149,1:55465024:G>C,NM_057176.2:c.165G>C,NP_476517.1:p.Gln55His,1/4,\N,Unknown significance,\N,missense_variant,24.8,0.0000971251,EXAC_AFR_AF,BSND
8150,1:55465037:G>A,NM_057176.2:c.177+1G>A,\N,\N,1/3,Unknown significance,\N,splice_donor_variant,25.5,\N,\N,BSND
8151,1:55465041:G>C,NM_057176.2:c.177+5G>C,\N,\N,1/3,Pathogenic,Bartter syndrome with sensorineural deafness,splice_region_variant&intron_variant,14.62,\N,\N,BSND
8152,1:55465042:T>C,NM_057176.2:c.177+6T>C,\N,\N,1/3,Unknown significance,\N,splice_region_variant&intron_variant,11.28,0.000098464,EXAC_AFR_AF,BSND
8153,1:55465043:G>A,NM_057176.2:c.177+7G>A,\N,\N,1/3,Likely benign,\N,splice_region_variant&intron_variant,12.21,0.000262483,EXAC_NFE_AF,BSND
8154,1:55465047:G>A,NM_057176.2:c.177+11G>A,\N,\N,1/3,Benign,\N,intron_variant,14.73,0.182888,EXAC_AMR_AF,BSND
8155,1:55465050:G>T,NM_057176.2:c.177+14G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,15.12,0.0000156436,EXAC_NFE_AF,BSND
8156,1:55465051:G>C,NM_057176.2:c.177+15G>C,\N,\N,1/3,Benign,\N,intron_variant,13.13,0.0068,1KG_AFR_AF,BSND
8157,1:55465057:G>T,NM_057176.2:c.177+21G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,12.32,0.000116279,EVS_EA_AF,BSND
8158,1:55465058:T>C,NM_057176.2:c.177+22T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,12.27,0.0000744713,EXAC_SAS_AF,BSND
8159,1:55465059:G>A,NM_057176.2:c.177+23G>A,\N,\N,1/3,Benign,\N,intron_variant,11.26,0.00917773,EXAC_SAS_AF,BSND
8160,1:55465068:T>C,NM_057176.2:c.177+32T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,4.655,0.000078456,EXAC_SAS_AF,BSND
8161,1:55465081:G>A,NM_057176.2:c.177+45G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,8.44,0.0000327139,EXAC_NFE_AF,BSND
8162,1:55465082:G>A,NM_057176.2:c.177+46G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,8.837,0.0000865052,EXAC_SAS_AF,BSND
8163,1:55465085:G>A,NM_057176.2:c.177+49G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,9.646,0.0000874738,EXAC_SAS_AF,BSND
8164,1:55465089:G>A,NM_057176.2:c.177+53G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,7.258,0.001,1KG_EAS_AF,BSND
8165,1:55465102:G>A,NM_057176.2:c.177+66G>A,\N,\N,1/3,Benign,\N,intron_variant,0.692,0.0234,1KG_AFR_AF,BSND
8166,1:55465145:C>A,NM_057176.2:c.177+109C>A,\N,\N,1/3,Benign,\N,intron_variant,10.9,0.0053,1KG_AFR_AF,BSND
8167,1:55465160:C>T,NM_057176.2:c.177+124C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.565,0.001,1KG_SAS_AF,BSND
8168,1:55465161:G>A,NM_057176.2:c.177+125G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.218,0.0008,1KG_AFR_AF,BSND
8169,1:55465184:C>T,NM_057176.2:c.177+148C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,8.675,\N,\N,BSND
8170,1:55465191:C>CCCAT,NM_057176.2:c.177+194_177+197dup,\N,\N,1/3,Unknown significance,\N,intron_variant,3.464,\N,\N,BSND
8171,1:55465191:CCCAT>C,NM_057176.2:c.177+194_177+197del,\N,\N,1/3,Unknown significance,\N,intron_variant,5.018,\N,\N,BSND
8172,1:55465191:CCCATCCATCCATCCAT>C,NM_057176.2:c.177+182_177+197del,\N,\N,1/3,Unknown significance,\N,intron_variant,6.276,0.003,1KG_EUR_AF,BSND
8173,1:55465199:T>C,NM_057176.2:c.177+163T>C,\N,\N,1/3,Benign,\N,intron_variant,3.062,0.0119,1KG_EUR_AF,BSND
8174,1:55465199:TCC>T,NM_057176.2:c.177+164_177+165del,\N,\N,1/3,Benign,\N,intron_variant,4.974,0.0688,1KG_AFR_AF,BSND
8175,1:55465200:C>A,NM_057176.2:c.177+164C>A,\N,\N,1/3,Benign,\N,intron_variant,6.008,0.0651,1KG_AFR_AF,BSND
8176,1:55465202:ATC>A,NM_057176.2:c.177+167_177+168del,\N,\N,1/3,Benign,\N,intron_variant,5.454,0.0688,1KG_AFR_AF,BSND
8177,1:55465203:T>G,NM_057176.2:c.177+167T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.533,\N,\N,BSND
8178,1:55465204:C>A,NM_057176.2:c.177+168C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.52,\N,\N,BSND
8179,1:55465230:A>T,NM_057176.2:c.177+194A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.546,0.0014,1KG_AMR_AF,BSND
8180,1:55465259:C>T,NM_057176.2:c.177+223C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.073,0.0029,1KG_AMR_AF,BSND
8181,1:55465283:G>A,NM_057176.2:c.177+247G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.538,0.001,1KG_EAS_AF,BSND
8182,1:55465342:T>C,NM_057176.2:c.177+306T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.143,0.001,1KG_EUR_AF,BSND
8183,1:55465345:G>A,NM_057176.2:c.177+309G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.015,0.003,1KG_EUR_AF,BSND
8184,1:55465347:G>C,NM_057176.2:c.177+311G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.335,0.0014,1KG_AMR_AF,BSND
8185,1:55465411:G>A,NM_057176.2:c.177+375G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.087,0.001,1KG_SAS_AF,BSND
8186,1:55465414:C>T,NM_057176.2:c.177+378C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,5.204,0.001,1KG_SAS_AF,BSND
8187,1:55465437:G>A,NM_057176.2:c.177+401G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.287,0.0008,1KG_AFR_AF,BSND
8188,1:55465444:T>C,NM_057176.2:c.177+408T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,3.549,0.004,1KG_EUR_AF,BSND
8189,1:55465475:C>T,NM_057176.2:c.177+439C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.374,\N,\N,BSND
8190,1:55465500:G>A,NM_057176.2:c.177+464G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,7.996,0.0008,1KG_AFR_AF,BSND
8191,1:55465523:A>T,NM_057176.2:c.177+487A>T,\N,\N,1/3,Benign,\N,intron_variant,2.792,0.0061,1KG_AFR_AF,BSND
8192,1:55465528:G>A,NM_057176.2:c.177+492G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.999,0.001,1KG_SAS_AF,BSND
8193,1:55465554:C>T,NM_057176.2:c.177+518C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.534,\N,\N,BSND
8194,1:55465555:G>A,NM_057176.2:c.177+519G>A,\N,\N,1/3,Benign,\N,intron_variant,0.306,0.0129,1KG_EAS_AF,BSND
8195,1:55465594:G>T,NM_057176.2:c.177+558G>T,\N,\N,1/3,Benign,\N,intron_variant,10.51,0.7565,1KG_EUR_AF,BSND
8196,1:55465643:T>C,NM_057176.2:c.177+607T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,5.098,\N,\N,BSND
8197,1:55465646:G>T,NM_057176.2:c.177+610G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.86,\N,\N,BSND
8198,1:55465652:T>C,NM_057176.2:c.177+616T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,5.138,\N,\N,BSND
8199,1:55465654:G>A,NM_057176.2:c.177+618G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.614,\N,\N,BSND
8200,1:55465668:A>C,NM_057176.2:c.177+632A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,5.188,0.001,1KG_EAS_AF,BSND
8201,1:55465735:G>C,NM_057176.2:c.177+699G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,8.694,\N,\N,BSND
8202,1:55465741:C>A,NM_057176.2:c.177+705C>A,\N,\N,1/3,Benign,\N,intron_variant,7.794,0.0072,1KG_AMR_AF,BSND
8203,1:55465797:G>A,NM_057176.2:c.177+761G>A,\N,\N,1/3,Benign,\N,intron_variant,3.249,0.8112,1KG_AMR_AF,BSND
8204,1:55465811:T>C,NM_057176.2:c.177+775T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,4.489,0.0008,1KG_AFR_AF,BSND
8205,1:55465847:C>T,NM_057176.2:c.177+811C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.622,0.0008,1KG_AFR_AF,BSND
8206,1:55465854:G>GTGT,NM_057176.2:c.177+820_177+822dup,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8207,1:55465926:G>A,NM_057176.2:c.177+890G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.636,\N,\N,BSND
8208,1:55465960:C>A,NM_057176.2:c.177+924C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.996,\N,\N,BSND
8209,1:55466041:T>A,NM_057176.2:c.177+1005T>A,\N,\N,1/3,Benign,\N,intron_variant,6.33,0.0297,1KG_SAS_AF,BSND
8210,1:55466077:C>T,NM_057176.2:c.177+1041C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.742,0.001,1KG_EAS_AF,BSND
8211,1:55466078:CT>C,NM_057176.2:c.177+1045del,\N,\N,1/3,Unknown significance,\N,intron_variant,4.784,\N,\N,BSND
8212,1:55466092:C>A,NM_057176.2:c.177+1056C>A,\N,\N,1/3,Benign,\N,intron_variant,4.37,0.469,1KG_AFR_AF,BSND
8213,1:55466124:TA>T,NM_057176.2:c.177+1089del,\N,\N,1/3,Benign,\N,intron_variant,6.498,0.0053,1KG_AFR_AF,BSND
8214,1:55466127:GA>G,NM_057176.2:c.177+1092del,\N,\N,1/3,Benign,\N,intron_variant,0.564,0.0245,1KG_SAS_AF,BSND
8215,1:55466128:A>AG,NM_057176.2:c.177+1100dup,\N,\N,1/3,Unknown significance,\N,intron_variant,0.366,\N,\N,BSND
8216,1:55466128:AG>A,NM_057176.2:c.177+1100del,\N,\N,1/3,Unknown significance,\N,intron_variant,1.041,\N,\N,BSND
8217,1:55466131:G>C,NM_057176.2:c.177+1095G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.261,0.001,1KG_EAS_AF,BSND
8218,1:55466134:G>A,NM_057176.2:c.177+1098G>A,\N,\N,1/3,Benign,\N,intron_variant,2.632,0.1316,1KG_AFR_AF,BSND
8219,1:55466211:C>T,NM_057176.2:c.177+1175C>T,\N,\N,1/3,Benign,\N,intron_variant,3.89,0.0068,1KG_AFR_AF,BSND
8220,1:55466294:C>T,NM_057176.2:c.177+1258C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.086,0.0008,1KG_AFR_AF,BSND
8221,1:55466295:G>A,NM_057176.2:c.177+1259G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.784,0.002,1KG_EUR_AF,BSND
8222,1:55466303:C>T,NM_057176.2:c.177+1267C>T,\N,\N,1/3,Benign,\N,intron_variant,18.28,0.1024,1KG_EUR_AF,BSND
8223,1:55466325:C>T,NM_057176.2:c.177+1289C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,7.359,\N,\N,BSND
8224,1:55466361:G>A,NM_057176.2:c.177+1325G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,19.57,\N,\N,BSND
8225,1:55466368:G>A,NM_057176.2:c.177+1332G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,19.9,\N,\N,BSND
8226,1:55466373:T>C,NM_057176.2:c.177+1337T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,21.3,0.001,1KG_SAS_AF,BSND
8227,1:55466409:G>T,NM_057176.2:c.177+1373G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,15.69,\N,\N,BSND
8228,1:55466415:G>A,NM_057176.2:c.177+1379G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,13.88,0.001,1KG_EUR_AF,BSND
8229,1:55466431:G>A,NM_057176.2:c.177+1395G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,11.02,\N,\N,BSND
8230,1:55466451:A>C,NM_057176.2:c.177+1415A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,11.31,\N,\N,BSND
8231,1:55466463:C>T,NM_057176.2:c.177+1427C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,14.14,\N,\N,BSND
8232,1:55466512:A>G,NM_057176.2:c.177+1476A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,10.11,\N,\N,BSND
8233,1:55466546:G>A,NM_057176.2:c.177+1510G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,5.657,0.001,1KG_EUR_AF,BSND
8234,1:55466578:G>A,NM_057176.2:c.177+1542G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.464,0.003,1KG_EUR_AF,BSND
8235,1:55466591:G>T,NM_057176.2:c.177+1555G>T,\N,\N,1/3,Benign,\N,intron_variant,0.522,0.0053,1KG_AFR_AF,BSND
8236,1:55466592:C>G,NM_057176.2:c.177+1556C>G,\N,\N,1/3,Benign,\N,intron_variant,0.805,0.1067,1KG_AFR_AF,BSND
8237,1:55466597:T>C,NM_057176.2:c.177+1561T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,3.021,\N,\N,BSND
8238,1:55466606:G>T,NM_057176.2:c.177+1570G>T,\N,\N,1/3,Benign,\N,intron_variant,0.897,0.0123,1KG_SAS_AF,BSND
8239,1:55466709:T>A,NM_057176.2:c.177+1673T>A,\N,\N,1/3,Benign,\N,intron_variant,5.5,0.0068,1KG_AFR_AF,BSND
8240,1:55466727:G>T,NM_057176.2:c.177+1691G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.067,0.001,1KG_EAS_AF,BSND
8241,1:55466733:A>T,NM_057176.2:c.177+1697A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.548,0.0008,1KG_AFR_AF,BSND
8242,1:55466739:C>T,NM_057176.2:c.177+1703C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.908,0.0015,1KG_AFR_AF,BSND
8243,1:55466806:T>C,NM_057176.2:c.177+1770T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,14.21,0.002,1KG_EAS_AF,BSND
8244,1:55466824:C>T,NM_057176.2:c.177+1788C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.336,0.001,1KG_EAS_AF,BSND
8245,1:55466839:G>A,NM_057176.2:c.177+1803G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,4.147,0.001,1KG_SAS_AF,BSND
8246,1:55466847:C>T,NM_057176.2:c.177+1811C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.601,0.001,1KG_EUR_AF,BSND
8247,1:55466848:G>A,NM_057176.2:c.177+1812G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.46,0.0008,1KG_AFR_AF,BSND
8248,1:55466848:G>T,NM_057176.2:c.177+1812G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.413,\N,\N,BSND
8249,1:55466852:G>C,NM_057176.2:c.177+1816G>C,\N,\N,1/3,Benign,\N,intron_variant,0.007,0.174,1KG_AFR_AF,BSND
8250,1:55466854:T>C,NM_057176.2:c.177+1818T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.25,\N,\N,BSND
8251,1:55466874:CGT>C,NM_057176.2:c.177+1881_177+1882del,\N,\N,1/3,Unknown significance,\N,intron_variant,0.615,\N,\N,BSND
8252,1:55466874:CGTGT>C,NM_057176.2:c.177+1879_177+1882del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.583,\N,\N,BSND
8253,1:55466874:CGTGTGT>C,NM_057176.2:c.177+1877_177+1882del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.604,\N,\N,BSND
8254,1:55466874:CGTGTGTGTGTGT>C,NM_057176.2:c.177+1871_177+1882del,\N,\N,1/3,Unknown significance,\N,intron_variant,8.055,\N,\N,BSND
8255,1:55466953:A>T,NM_057176.2:c.177+1917A>T,\N,\N,1/3,Benign,\N,intron_variant,0.183,0.0051,1KG_SAS_AF,BSND
8256,1:55466965:A>C,NM_057176.2:c.177+1929A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.947,\N,\N,BSND
8257,1:55466975:G>A,NM_057176.2:c.177+1939G>A,\N,\N,1/3,Benign,\N,intron_variant,2.907,0.1084,1KG_SAS_AF,BSND
8258,1:55466995:C>T,NM_057176.2:c.177+1959C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.153,\N,\N,BSND
8259,1:55466996:G>A,NM_057176.2:c.177+1960G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.046,\N,\N,BSND
8260,1:55467053:G>T,NM_057176.2:c.177+2017G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.48,\N,\N,BSND
8261,1:55467055:A>G,NM_057176.2:c.177+2019A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.45,\N,\N,BSND
8262,1:55467088:A>G,NM_057176.2:c.177+2052A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,0.556,\N,\N,BSND
8263,1:55467136:C>T,NM_057176.2:c.177+2100C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.163,0.0023,1KG_AFR_AF,BSND
8264,1:55467137:G>A,NM_057176.2:c.177+2101G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.061,\N,\N,BSND
8265,1:55467158:G>A,NM_057176.2:c.177+2122G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.198,0.0008,1KG_AFR_AF,BSND
8266,1:55467182:G>A,NM_057176.2:c.177+2146G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.17,\N,\N,BSND
8267,1:55467204:G>T,NM_057176.2:c.177+2168G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.603,\N,\N,BSND
8268,1:55467226:C>T,NM_057176.2:c.177+2190C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.049,0.001,1KG_EAS_AF,BSND
8269,1:55467230:G>C,NM_057176.2:c.177+2194G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.281,\N,\N,BSND
8270,1:55467235:C>G,NM_057176.2:c.177+2199C>G,\N,\N,1/3,Benign,\N,intron_variant,2.756,0.2008,1KG_EUR_AF,BSND
8271,1:55467249:T>C,NM_057176.2:c.177+2213T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.914,\N,\N,BSND
8272,1:55467255:G>A,NM_057176.2:c.177+2219G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.35,0.0041,1KG_SAS_AF,BSND
8273,1:55467272:G>T,NM_057176.2:c.177+2236G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.337,0.001,1KG_SAS_AF,BSND
8274,1:55467318:G>A,NM_057176.2:c.177+2282G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.082,0.0008,1KG_AFR_AF,BSND
8275,1:55467337:C>T,NM_057176.2:c.177+2301C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.189,\N,\N,BSND
8276,1:55467449:G>A,NM_057176.2:c.177+2413G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.381,0.0008,1KG_AFR_AF,BSND
8277,1:55467455:A>G,NM_057176.2:c.177+2419A>G,\N,\N,1/3,Benign,\N,intron_variant,1.303,0.0182,1KG_AFR_AF,BSND
8278,1:55467473:G>T,NM_057176.2:c.177+2437G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.039,0.0008,1KG_AFR_AF,BSND
8279,1:55467562:C>T,NM_057176.2:c.177+2526C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.39,0.002,1KG_SAS_AF,BSND
8280,1:55467566:A>G,NM_057176.2:c.177+2530A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,0.874,\N,\N,BSND
8281,1:55467592:G>A,NM_057176.2:c.177+2556G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.68,0.001,1KG_EUR_AF,BSND
8282,1:55467598:G>C,NM_057176.2:c.177+2562G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.487,0.0008,1KG_AFR_AF,BSND
8283,1:55467614:T>C,NM_057176.2:c.177+2578T>C,\N,\N,1/3,Benign,\N,intron_variant,0.867,0.0053,1KG_AFR_AF,BSND
8284,1:55467621:C>T,NM_057176.2:c.177+2585C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.312,\N,\N,BSND
8285,1:55467649:G>A,NM_057176.2:c.177+2613G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.914,\N,\N,BSND
8286,1:55467674:G>A,NM_057176.2:c.177+2638G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.266,\N,\N,BSND
8287,1:55467676:C>A,NM_057176.2:c.177+2640C>A,\N,\N,1/3,Benign,\N,intron_variant,9.952,0.031,1KG_AFR_AF,BSND
8288,1:55467722:G>A,NM_057176.2:c.177+2686G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.225,0.0014,1KG_AMR_AF,BSND
8289,1:55467749:T>A,NM_057176.2:c.177+2713T>A,\N,\N,1/3,Unknown significance,\N,intron_variant,9.246,0.001,1KG_EAS_AF,BSND
8290,1:55467766:G>A,NM_057176.2:c.177+2730G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.065,\N,\N,BSND
8291,1:55467780:C>G,NM_057176.2:c.177+2744C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.051,0.0008,1KG_AFR_AF,BSND
8292,1:55467802:C>A,NM_057176.2:c.177+2766C>A,\N,\N,1/3,Benign,\N,intron_variant,4.93,0.0651,1KG_AFR_AF,BSND
8293,1:55467817:A>G,NM_057176.2:c.177+2781A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,5.315,0.001,1KG_SAS_AF,BSND
8294,1:55467857:G>A,NM_057176.2:c.177+2821G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.095,0.0008,1KG_AFR_AF,BSND
8295,1:55467898:C>G,NM_057176.2:c.178-2797C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.857,0.001,1KG_SAS_AF,BSND
8296,1:55467947:C>T,NM_057176.2:c.178-2748C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,5.606,\N,\N,BSND
8297,1:55467964:G>A,NM_057176.2:c.178-2731G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.815,0.001,1KG_EAS_AF,BSND
8298,1:55467964:G>T,NM_057176.2:c.178-2731G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.614,\N,\N,BSND
8299,1:55467977:G>A,NM_057176.2:c.178-2718G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.438,\N,\N,BSND
8300,1:55468011:G>A,NM_057176.2:c.178-2684G>A,\N,\N,1/3,Benign,\N,intron_variant,1.828,0.0303,1KG_AFR_AF,BSND
8301,1:55468026:G>GA,NM_057176.2:c.178-2668dup,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8302,1:55468036:G>A,NM_057176.2:c.178-2659G>A,\N,\N,1/3,Benign,\N,intron_variant,2.836,0.0061,1KG_AFR_AF,BSND
8303,1:55468040:G>A,NM_057176.2:c.178-2655G>A,\N,\N,1/3,Benign,\N,intron_variant,3.428,0.2887,1KG_EAS_AF,BSND
8304,1:55468059:G>A,NM_057176.2:c.178-2636G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,5.935,0.003,1KG_EAS_AF,BSND
8305,1:55468081:T>G,NM_057176.2:c.178-2614T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.362,0.001,1KG_EUR_AF,BSND
8306,1:55468084:C>A,NM_057176.2:c.178-2611C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.64,\N,\N,BSND
8307,1:55468087:C>T,NM_057176.2:c.178-2608C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.304,\N,\N,BSND
8308,1:55468092:C>T,NM_057176.2:c.178-2603C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.252,0.001,1KG_EAS_AF,BSND
8309,1:55468095:C>T,NM_057176.2:c.178-2600C>T,\N,\N,1/3,Benign,\N,intron_variant,3.605,0.0121,1KG_AFR_AF,BSND
8310,1:55468095:CC>TG,NM_057176.2:c.178-2600_178-2599delinsTG,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8311,1:55468096:C>G,NM_057176.2:c.178-2599C>G,\N,\N,1/3,Benign,\N,intron_variant,1.839,0.0295,1KG_AFR_AF,BSND
8312,1:55468104:A>C,NM_057176.2:c.178-2591A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,6.647,\N,\N,BSND
8313,1:55468105:C>T,NM_057176.2:c.178-2590C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,8.691,0.001,1KG_EAS_AF,BSND
8314,1:55468142:T>C,NM_057176.2:c.178-2553T>C,\N,\N,1/3,Benign,\N,intron_variant,0.985,0.0113,1KG_AFR_AF,BSND
8315,1:55468144:A>G,NM_057176.2:c.178-2551A>G,\N,\N,1/3,Benign,\N,intron_variant,2.915,0.0068,1KG_AFR_AF,BSND
8316,1:55468159:C>G,NM_057176.2:c.178-2536C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,0.294,\N,\N,BSND
8317,1:55468174:T>C,NM_057176.2:c.178-2521T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.482,0.0031,1KG_SAS_AF,BSND
8318,1:55468217:C>G,NM_057176.2:c.178-2478C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.311,\N,\N,BSND
8319,1:55468222:A>G,NM_057176.2:c.178-2473A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.052,0.001,1KG_SAS_AF,BSND
8320,1:55468238:C>G,NM_057176.2:c.178-2457C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.558,\N,\N,BSND
8321,1:55468245:A>T,NM_057176.2:c.178-2450A>T,\N,\N,1/3,Benign,\N,intron_variant,0.485,0.621,1KG_AFR_AF,BSND
8322,1:55468315:C>T,NM_057176.2:c.178-2380C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,8.719,0.001,1KG_EAS_AF,BSND
8323,1:55468341:C>A,NM_057176.2:c.178-2354C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.651,\N,\N,BSND
8324,1:55468364:C>T,NM_057176.2:c.178-2331C>T,\N,\N,1/3,Benign,\N,intron_variant,3.18,0.0386,1KG_AFR_AF,BSND
8325,1:55468365:C>T,NM_057176.2:c.178-2330C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.265,\N,\N,BSND
8326,1:55468366:C>T,NM_057176.2:c.178-2329C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.923,\N,\N,BSND
8327,1:55468369:T>A,NM_057176.2:c.178-2326T>A,\N,\N,1/3,Unknown significance,\N,intron_variant,4.588,0.001,1KG_SAS_AF,BSND
8328,1:55468416:T>C,NM_057176.2:c.178-2279T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.986,0.0008,1KG_AFR_AF,BSND
8329,1:55468465:G>GTGA,NM_057176.2:c.178-2212_178-2210dup,\N,\N,1/3,Benign,\N,intron_variant,0.272,0.0113,1KG_AFR_AF,BSND
8330,1:55468465:GTGATGA>G,NM_057176.2:c.178-2215_178-2210del,\N,\N,1/3,Unknown significance,\N,intron_variant,1.752,0.0043,1KG_AMR_AF,BSND
8331,1:55468477:A>T,NM_057176.2:c.178-2218A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.642,0.003,1KG_AFR_AF,BSND
8332,1:55468480:A>G,NM_057176.2:c.178-2215A>G,\N,\N,1/3,Benign,\N,intron_variant,1.355,0.171,1KG_AFR_AF,BSND
8333,1:55468486:TTAGT>GTGAG,NM_057176.2:c.178-2209_178-2205delinsGTGAG,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8334,1:55468577:T>G,NM_057176.2:c.178-2118T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.72,\N,\N,BSND
8335,1:55468595:G>C,NM_057176.2:c.178-2100G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.222,\N,\N,BSND
8336,1:55468616:G>T,NM_057176.2:c.178-2079G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.309,\N,\N,BSND
8337,1:55468620:G>T,NM_057176.2:c.178-2075G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.223,\N,\N,BSND
8338,1:55468624:G>T,NM_057176.2:c.178-2071G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.742,\N,\N,BSND
8339,1:55468625:G>T,NM_057176.2:c.178-2070G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.379,\N,\N,BSND
8340,1:55468627:A>G,NM_057176.2:c.178-2068A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.33,\N,\N,BSND
8341,1:55468628:A>G,NM_057176.2:c.178-2067A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.428,\N,\N,BSND
8342,1:55468631:G>GTGA,NM_057176.2:c.178-2062_178-2060dup,\N,\N,1/3,Benign,\N,intron_variant,0.584,0.5,1KG_EUR_AF|1KG_SAS_AF,BSND
8343,1:55468631:GTGATAATGGTGA>G,NM_057176.2:c.178-2059_178-2048del,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8344,1:55468636:A>G,NM_057176.2:c.178-2059A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.674,0.0045,1KG_AFR_AF,BSND
8345,1:55468636:AATGGTGA>GATAATAG,NM_057176.2:c.178-2059_178-2052delinsGATAATAG,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8346,1:55468639:G>A,NM_057176.2:c.178-2056G>A,\N,\N,1/3,Benign,\N,intron_variant,5.081,0.4986,1KG_AMR_AF,BSND
8347,1:55468642:G>T,NM_057176.2:c.178-2053G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.302,\N,\N,BSND
8348,1:55468646:A>G,NM_057176.2:c.178-2049A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.293,\N,\N,BSND
8349,1:55468654:A>T,NM_057176.2:c.178-2041A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.106,\N,\N,BSND
8350,1:55468660:A>G,NM_057176.2:c.178-2035A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.308,\N,\N,BSND
8351,1:55468664:A>G,NM_057176.2:c.178-2031A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.199,\N,\N,BSND
8352,1:55468667:G>A,NM_057176.2:c.178-2028G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.709,\N,\N,BSND
8353,1:55468671:G>T,NM_057176.2:c.178-2024G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.521,\N,\N,BSND
8354,1:55468684:G>C,NM_057176.2:c.178-2011G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.396,\N,\N,BSND
8355,1:55468686:C>A,NM_057176.2:c.178-2009C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.194,\N,\N,BSND
8356,1:55468686:C>T,NM_057176.2:c.178-2009C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.153,\N,\N,BSND
8357,1:55468687:A>G,NM_057176.2:c.178-2008A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.192,\N,\N,BSND
8358,1:55468689:T>C,NM_057176.2:c.178-2006T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.59,\N,\N,BSND
8359,1:55468691:GTGA>G,NM_057176.2:c.178-1984_178-1982del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.776,\N,\N,BSND
8360,1:55468695:T>G,NM_057176.2:c.178-2000T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,4.899,\N,\N,BSND
8361,1:55468704:T>C,NM_057176.2:c.178-1991T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,2.228,\N,\N,BSND
8362,1:55468708:G>T,NM_057176.2:c.178-1987G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.348,\N,\N,BSND
8363,1:55468708:GATGATAG>TATTATTA,NM_057176.2:c.178-1987_178-1980delinsTATTATTA,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8364,1:55468709:A>G,NM_057176.2:c.178-1986A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.793,\N,\N,BSND
8365,1:55468711:G>T,NM_057176.2:c.178-1984G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.53,\N,\N,BSND
8366,1:55468714:A>T,NM_057176.2:c.178-1981A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.486,\N,\N,BSND
8367,1:55468715:G>A,NM_057176.2:c.178-1980G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.719,\N,\N,BSND
8368,1:55468720:G>A,NM_057176.2:c.178-1975G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,5.142,\N,\N,BSND
8369,1:55468730:ACGG>A,NM_057176.2:c.178-1964_178-1962del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.974,\N,\N,BSND
8370,1:55468731:C>A,NM_057176.2:c.178-1964C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.614,\N,\N,BSND
8371,1:55468731:CGGTGATGAT>TTAGGA,NM_057176.2:c.178-1964_178-1955delinsTTAGGA,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8372,1:55468733:G>GTTA,NM_057176.2:c.178-1961_178-1960insTAT,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8373,1:55468735:G>T,NM_057176.2:c.178-1960G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.873,\N,\N,BSND
8374,1:55468737:T>G,NM_057176.2:c.178-1958T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,4.061,\N,\N,BSND
8375,1:55468739:A>C,NM_057176.2:c.178-1956A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.113,\N,\N,BSND
8376,1:55468739:AT>A,NM_057176.2:c.178-1955del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.001,\N,\N,BSND
8377,1:55468745:G>A,NM_057176.2:c.178-1950G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.488,\N,\N,BSND
8378,1:55468748:ACGG>A,NM_057176.2:c.178-1946_178-1944del,\N,\N,1/3,Unknown significance,\N,intron_variant,2.445,\N,\N,BSND
8379,1:55468758:T>G,NM_057176.2:c.178-1937T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.304,\N,\N,BSND
8380,1:55468766:C>A,NM_057176.2:c.178-1929C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.167,\N,\N,BSND
8381,1:55468773:G>C,NM_057176.2:c.178-1922G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.153,0.003,1KG_EAS_AF,BSND
8382,1:55468783:T>C,NM_057176.2:c.178-1912T>C,\N,\N,1/3,Benign,\N,intron_variant,5.629,0.1029,1KG_AFR_AF,BSND
8383,1:55468803:C>G,NM_057176.2:c.178-1892C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,9.117,0.0015,1KG_AFR_AF,BSND
8384,1:55468810:T>C,NM_057176.2:c.178-1885T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,8.993,0.0041,1KG_SAS_AF,BSND
8385,1:55468842:G>T,NM_057176.2:c.178-1853G>T,\N,\N,1/3,Benign,\N,intron_variant,0.492,0.0061,1KG_SAS_AF,BSND
8386,1:55468919:G>T,NM_057176.2:c.178-1776G>T,\N,\N,1/3,Benign,\N,intron_variant,2.838,0.1271,1KG_AFR_AF,BSND
8387,1:55468979:G>A,NM_057176.2:c.178-1716G>A,\N,\N,1/3,Benign,\N,intron_variant,12.14,0.0051,1KG_SAS_AF,BSND
8388,1:55468998:A>G,NM_057176.2:c.178-1697A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,16.42,0.001,1KG_EUR_AF,BSND
8389,1:55469022:T>C,NM_057176.2:c.178-1673T>C,\N,\N,1/3,Benign,\N,intron_variant,14.17,0.059,1KG_AFR_AF,BSND
8390,1:55469081:A>AT,NM_057176.2:c.178-1606dup,\N,\N,1/3,Unknown significance,\N,intron_variant,0.017,\N,\N,BSND
8391,1:55469090:G>T,NM_057176.2:c.178-1605G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.174,0.0008,1KG_AFR_AF,BSND
8392,1:55469101:G>A,NM_057176.2:c.178-1594G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.506,0.0015,1KG_AFR_AF,BSND
8393,1:55469115:C>G,NM_057176.2:c.178-1580C>G,\N,\N,1/3,Benign,\N,intron_variant,1.473,0.0363,1KG_AFR_AF,BSND
8394,1:55469121:A>C,NM_057176.2:c.178-1574A>C,\N,\N,1/3,Benign,\N,intron_variant,0.514,0.0431,1KG_AFR_AF,BSND
8395,1:55469123:C>G,NM_057176.2:c.178-1572C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,0.191,0.0038,1KG_AFR_AF,BSND
8396,1:55469154:C>T,NM_057176.2:c.178-1541C>T,\N,\N,1/3,Benign,\N,intron_variant,1.889,0.1725,1KG_AFR_AF,BSND
8397,1:55469155:G>A,NM_057176.2:c.178-1540G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.081,0.001,1KG_SAS_AF,BSND
8398,1:55469173:C>T,NM_057176.2:c.178-1522C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.441,0.0008,1KG_AFR_AF,BSND
8399,1:55469197:C>T,NM_057176.2:c.178-1498C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,1.774,0.002,1KG_EAS_AF,BSND
8400,1:55469255:T>G,NM_057176.2:c.178-1440T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,0.77,0.001,1KG_EAS_AF,BSND
8401,1:55469292:G>C,NM_057176.2:c.178-1403G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,6.11,\N,\N,BSND
8402,1:55469317:T>C,NM_057176.2:c.178-1378T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,5.389,0.0008,1KG_AFR_AF,BSND
8403,1:55469355:A>G,NM_057176.2:c.178-1340A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,1.951,0.001,1KG_EUR_AF,BSND
8404,1:55469396:A>T,NM_057176.2:c.178-1299A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.98,\N,\N,BSND
8405,1:55469401:G>C,NM_057176.2:c.178-1294G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,6.483,\N,\N,BSND
8406,1:55469412:C>T,NM_057176.2:c.178-1283C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,8.657,\N,\N,BSND
8407,1:55469452:C>T,NM_057176.2:c.178-1243C>T,\N,\N,1/3,Benign,\N,intron_variant,4.275,0.0166,1KG_AFR_AF,BSND
8408,1:55469453:C>T,NM_057176.2:c.178-1242C>T,\N,\N,1/3,Benign,\N,intron_variant,2.817,0.005,1KG_EAS_AF,BSND
8409,1:55469457:T>C,NM_057176.2:c.178-1238T>C,\N,\N,1/3,Benign,\N,intron_variant,0.082,0.059,1KG_AFR_AF,BSND
8410,1:55469465:C>A,NM_057176.2:c.178-1230C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.735,\N,\N,BSND
8411,1:55469489:C>T,NM_057176.2:c.178-1206C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,4.154,0.0008,1KG_AFR_AF,BSND
8412,1:55469500:C>T,NM_057176.2:c.178-1195C>T,\N,\N,1/3,Benign,\N,intron_variant,1.73,0.0058,1KG_AMR_AF,BSND
8413,1:55469501:G>A,NM_057176.2:c.178-1194G>A,\N,\N,1/3,Benign,\N,intron_variant,0.992,0.0439,1KG_AFR_AF,BSND
8414,1:55469511:C>T,NM_057176.2:c.178-1184C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.569,0.001,1KG_EAS_AF,BSND
8415,1:55469517:T>TA,NM_057176.2:c.178-1174dup,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8416,1:55469521:A>AG,NM_057176.2:c.178-1174_178-1173insG,\N,\N,1/3,Benign,\N,intron_variant,0.081,0.3419,1KG_AFR_AF,BSND
8417,1:55469524:C>A,NM_057176.2:c.178-1171C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.373,\N,\N,BSND
8418,1:55469545:T>TA,NM_057176.2:c.178-1146dup,\N,\N,1/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8419,1:55469554:G>A,NM_057176.2:c.178-1141G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.392,\N,\N,BSND
8420,1:55469572:A>C,NM_057176.2:c.178-1123A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.978,\N,\N,BSND
8421,1:55469606:A>G,NM_057176.2:c.178-1089A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.476,0.0015,1KG_AFR_AF,BSND
8422,1:55469623:A>G,NM_057176.2:c.178-1072A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.914,0.001,1KG_SAS_AF,BSND
8423,1:55469625:T>C,NM_057176.2:c.178-1070T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.868,0.0038,1KG_AFR_AF,BSND
8424,1:55469658:C>T,NM_057176.2:c.178-1037C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.127,0.001,1KG_EAS_AF,BSND
8425,1:55469804:C>T,NM_057176.2:c.178-891C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.468,0.001,1KG_EAS_AF,BSND
8426,1:55469805:G>T,NM_057176.2:c.178-890G>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.179,\N,\N,BSND
8427,1:55469818:G>A,NM_057176.2:c.178-877G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.705,0.001,1KG_SAS_AF,BSND
8428,1:55469894:T>C,NM_057176.2:c.178-801T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.406,0.0031,1KG_SAS_AF,BSND
8429,1:55469901:A>C,NM_057176.2:c.178-794A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.109,\N,\N,BSND
8430,1:55469929:T>A,NM_057176.2:c.178-766T>A,\N,\N,1/3,Unknown significance,\N,intron_variant,1.566,0.002,1KG_EUR_AF,BSND
8431,1:55469940:T>C,NM_057176.2:c.178-755T>C,\N,\N,1/3,Benign,\N,intron_variant,1.656,0.0058,1KG_AMR_AF,BSND
8432,1:55469979:A>G,NM_057176.2:c.178-716A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,5.732,\N,\N,BSND
8433,1:55469998:C>A,NM_057176.2:c.178-697C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.161,\N,\N,BSND
8434,1:55470026:C>T,NM_057176.2:c.178-669C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,2.002,\N,\N,BSND
8435,1:55470027:G>A,NM_057176.2:c.178-668G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.789,0.0014,1KG_AMR_AF,BSND
8436,1:55470031:A>C,NM_057176.2:c.178-664A>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.409,\N,\N,BSND
8437,1:55470038:A>G,NM_057176.2:c.178-657A>G,\N,\N,1/3,Benign,\N,intron_variant,3.711,0.1762,1KG_AFR_AF,BSND
8438,1:55470046:A>G,NM_057176.2:c.178-649A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,2.108,\N,\N,BSND
8439,1:55470083:C>T,NM_057176.2:c.178-612C>T,\N,\N,1/3,Benign,\N,intron_variant,2.781,0.0061,1KG_SAS_AF,BSND
8440,1:55470105:A>G,NM_057176.2:c.178-590A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,6.129,\N,\N,BSND
8441,1:55470116:C>T,NM_057176.2:c.178-579C>T,\N,\N,1/3,Benign,\N,intron_variant,12.85,0.0287,1KG_AFR_AF,BSND
8442,1:55470150:C>T,NM_057176.2:c.178-545C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,8.907,\N,\N,BSND
8443,1:55470153:C>T,NM_057176.2:c.178-542C>T,\N,\N,1/3,Benign,\N,intron_variant,3.295,0.0229,1KG_EUR_AF,BSND
8444,1:55470154:G>A,NM_057176.2:c.178-541G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.101,\N,\N,BSND
8445,1:55470200:C>G,NM_057176.2:c.178-495C>G,\N,\N,1/3,Benign,\N,intron_variant,12.09,0.1084,1KG_SAS_AF,BSND
8446,1:55470247:C>T,NM_057176.2:c.178-448C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,5.201,\N,\N,BSND
8447,1:55470320:A>T,NM_057176.2:c.178-375A>T,\N,\N,1/3,Unknown significance,\N,intron_variant,10.22,0.001,1KG_EAS_AF,BSND
8448,1:55470362:C>T,NM_057176.2:c.178-333C>T,\N,\N,1/3,Benign,\N,intron_variant,2.437,0.006,1KG_EAS_AF,BSND
8449,1:55470367:A>G,NM_057176.2:c.178-328A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,6.423,0.0015,1KG_AFR_AF,BSND
8450,1:55470385:G>C,NM_057176.2:c.178-310G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,4.394,\N,\N,BSND
8451,1:55470417:C>T,NM_057176.2:c.178-278C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,5.777,0.001,1KG_EUR_AF,BSND
8452,1:55470433:T>C,NM_057176.2:c.178-262T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,2.438,0.0014,1KG_AMR_AF,BSND
8453,1:55470441:G>A,NM_057176.2:c.178-254G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,2.799,\N,\N,BSND
8454,1:55470442:C>T,NM_057176.2:c.178-253C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,0.921,\N,\N,BSND
8455,1:55470453:G>A,NM_057176.2:c.178-242G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.233,0.001,1KG_EAS_AF,BSND
8456,1:55470497:G>C,NM_057176.2:c.178-198G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.257,0.002,1KG_EAS_AF,BSND
8457,1:55470498:G>C,NM_057176.2:c.178-197G>C,\N,\N,1/3,Unknown significance,\N,intron_variant,0.977,0.0008,1KG_AFR_AF,BSND
8458,1:55470506:C>A,NM_057176.2:c.178-189C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,0.579,\N,\N,BSND
8459,1:55470533:T>G,NM_057176.2:c.178-162T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,4.217,0.001,1KG_SAS_AF,BSND
8460,1:55470578:C>G,NM_057176.2:c.178-117C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,5.722,0.001,1KG_SAS_AF,BSND
8461,1:55470582:C>T,NM_057176.2:c.178-113C>T,\N,\N,1/3,Benign,\N,intron_variant,4.3,0.0098,1KG_AFR_AF,BSND
8462,1:55470583:G>A,NM_057176.2:c.178-112G>A,\N,\N,1/3,Benign,\N,intron_variant,1.293,0.0061,1KG_AFR_AF,BSND
8463,1:55470594:T>C,NM_057176.2:c.178-101T>C,\N,\N,1/3,Unknown significance,\N,intron_variant,1.013,\N,\N,BSND
8464,1:55470644:G>GC,NM_057176.2:c.178-45dup,\N,\N,1/3,Unknown significance,\N,intron_variant,2.231,0.00117327,EXAC_SAS_AF,BSND
8465,1:55470646:C>G,NM_057176.2:c.178-49C>G,\N,\N,1/3,Unknown significance,\N,intron_variant,3.114,\N,\N,BSND
8466,1:55470649:C>A,NM_057176.2:c.178-46C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,6.035,0.0000151295,EXAC_NFE_AF,BSND
8467,1:55470649:C>T,NM_057176.2:c.178-46C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,6.24,0.000294985,EXAC_AFR_AF,BSND
8468,1:55470652:A>G,NM_057176.2:c.178-43A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,6.713,0.0000151089,EXAC_NFE_AF,BSND
8469,1:55470653:C>A,NM_057176.2:c.178-42C>A,\N,\N,1/3,Unknown significance,\N,intron_variant,3.845,0.0000302142,EXAC_NFE_AF,BSND
8470,1:55470653:C>T,NM_057176.2:c.178-42C>T,\N,\N,1/3,Unknown significance,\N,intron_variant,3.813,0.000465549,EXAC_EAS_AF,BSND
8471,1:55470662:A>G,NM_057176.2:c.178-33A>G,\N,\N,1/3,Unknown significance,\N,intron_variant,9.412,0.000919589,EXAC_NFE_AF,BSND
8472,1:55470664:T>G,NM_057176.2:c.178-31T>G,\N,\N,1/3,Unknown significance,\N,intron_variant,11.84,0.000153374,EXAC_FIN_AF,BSND
8473,1:55470670:G>A,NM_057176.2:c.178-25G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,12.75,0.000232558,EVS_EA_AF,BSND
8474,1:55470673:G>A,NM_057176.2:c.178-22G>A,\N,\N,1/3,Unknown significance,\N,intron_variant,13.92,0.0000300815,EXAC_NFE_AF,BSND
8475,1:55470674:CTG>C,NM_057176.2:c.178-19_178-18del,\N,\N,1/3,Unknown significance,\N,intron_variant,12.59,0.0000150385,EXAC_NFE_AF,BSND
8476,1:55470676:GTC>G,NM_057176.2:c.178-14_178-13del,\N,\N,1/3,Unknown significance,\N,intron_variant,12.93,0.0000150349,EXAC_NFE_AF,BSND
8477,1:55470683:CT>C,NM_057176.2:c.178-9del,\N,\N,1/3,Unknown significance,\N,intron_variant,14.6,\N,\N,BSND
8478,1:55470697:C>T,NM_057176.2:c.180C>T,NP_476517.1:p.Ile60=,2/4,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.5,0.0000607903,EXAC_SAS_AF,BSND
8479,1:55470700:C>T,NM_057176.2:c.183C>T,NP_476517.1:p.Thr61=,2/4,\N,Unknown significance,\N,synonymous_variant,13.72,0.001,1KG_SAS_AF,BSND
8480,1:55470703:C>T,NM_057176.2:c.186C>T,NP_476517.1:p.Phe62=,2/4,\N,Unknown significance,\N,synonymous_variant,15.27,0.000259785,EXAC_AMR_AF,BSND
8481,1:55470704:G>A,NM_057176.2:c.187G>A,NP_476517.1:p.Val63Ile,2/4,\N,Likely benign,\N,missense_variant,12.18,0.000182083,EXAC_SAS_AF,BSND
8482,1:55470706:C>T,NM_057176.2:c.189C>T,NP_476517.1:p.Val63=,2/4,\N,Benign,\N,synonymous_variant,14.37,0.0123,1KG_SAS_AF,BSND
8483,1:55470724:T>A,NM_057176.2:c.207T>A,NP_476517.1:p.Phe69Leu,2/4,\N,Likely benign,\N,missense_variant,12.35,0.000481325,EXAC_AFR_AF,BSND
8484,1:55470733:C>A,NM_057176.2:c.216C>A,NP_476517.1:p.Ile72=,2/4,\N,Unknown significance,\N,synonymous_variant,18.36,0.0015022,EXAC_EAS_AF,BSND
8485,1:55470733:C>T,NM_057176.2:c.216C>T,NP_476517.1:p.Ile72=,2/4,\N,Unknown significance,\N,synonymous_variant,13.37,0.0000299832,EXAC_NFE_AF,BSND
8486,1:55470734:C>G,NM_057176.2:c.217C>G,NP_476517.1:p.Leu73Val,2/4,\N,Likely benign,\N,missense_variant,17.28,0.000231107,EXAC_EAS_AF,BSND
8487,1:55470742:A>G,NM_057176.2:c.225A>G,NP_476517.1:p.Pro75=,2/4,\N,Unknown significance,\N,synonymous_variant,5.553,0.00115554,EXAC_EAS_AF,BSND
8488,1:55470747:C>T,NM_057176.2:c.230C>T,NP_476517.1:p.Ala77Val,2/4,\N,Likely benign,\N,missense_variant,22.3,0.000115554,EXAC_EAS_AF,BSND
8489,1:55470754:C>T,NM_057176.2:c.237C>T,NP_476517.1:p.Gly79=,2/4,\N,Unknown significance,\N,synonymous_variant,13.55,0.00138664,EXAC_EAS_AF,BSND
8490,1:55470757:G>A,NM_057176.2:c.240G>A,NP_476517.1:p.Leu80=,2/4,\N,Unknown significance,\N,synonymous_variant,8.266,0.000226963,EVS_AA_AF,BSND
8491,1:55470767:G>A,NM_057176.2:c.250G>A,NP_476517.1:p.Gly84Arg,2/4,\N,Likely benign,\N,missense_variant,10.41,0.0000867604,EXAC_AMR_AF,BSND
8492,1:55470776:G>A,NM_057176.2:c.259G>A,NP_476517.1:p.Ala87Thr,2/4,\N,Likely benign,\N,missense_variant,0.265,0.0000150344,EXAC_NFE_AF,BSND
8493,1:55470778:C>T,NM_057176.2:c.261C>T,NP_476517.1:p.Ala87=,2/4,\N,Unknown significance,\N,synonymous_variant,9.931,0.00019459,EXAC_AFR_AF,BSND
8494,1:55470779:G>A,NM_057176.2:c.262G>A,NP_476517.1:p.Glu88Lys,2/4,\N,Likely pathogenic,Schizophrenia,missense_variant,23.1,0.000194742,EXAC_AFR_AF,BSND
8495,1:55470779:G>T,NM_057176.2:c.262G>T,NP_476517.1:p.Glu88Ter,2/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,stop_gained,36,0.0000752242,EXAC_NFE_AF,BSND
8496,1:55470783:T>G,NM_057176.2:c.266T>G,NP_476517.1:p.Met89Arg,2/4,\N,Likely benign,\N,missense_variant,0.091,0.000116279,EVS_EA_AF,BSND
8497,1:55470789:G>A,NM_057176.2:c.272G>A,NP_476517.1:p.Ser91Asn,2/4,\N,Likely benign,\N,missense_variant&splice_region_variant,21.5,0.0000150734,EXAC_NFE_AF,BSND
8498,1:55470798:C>T,NM_057176.2:c.272+9C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,6.864,0.0000151842,EXAC_NFE_AF,BSND
8499,1:55470802:C>A,NM_057176.2:c.272+13C>A,\N,\N,2/3,Unknown significance,\N,intron_variant,6.415,0.0000616675,EXAC_SAS_AF,BSND
8500,1:55470803:C>A,NM_057176.2:c.272+14C>A,\N,\N,2/3,Unknown significance,\N,intron_variant,5.946,0.0000304832,EXAC_NFE_AF,BSND
8501,1:55470806:C>G,NM_057176.2:c.272+17C>G,\N,\N,2/3,Unknown significance,\N,intron_variant,3.208,0.000116279,EVS_EA_AF,BSND
8502,1:55470808:C>T,NM_057176.2:c.272+19C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.402,0.0000618582,EXAC_SAS_AF,BSND
8503,1:55470809:G>A,NM_057176.2:c.272+20G>A,\N,\N,2/3,Benign,\N,intron_variant,0.301,0.1725,1KG_AFR_AF,BSND
8504,1:55470809:G>T,NM_057176.2:c.272+20G>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.083,0.000236911,EXAC_EAS_AF,BSND
8505,1:55470811:G>A,NM_057176.2:c.272+22G>A,\N,\N,2/3,Benign,\N,intron_variant,1.473,0.0817121,EXAC_NFE_AF,BSND
8506,1:55470814:G>C,NM_057176.2:c.272+25G>C,\N,\N,2/3,Unknown significance,\N,intron_variant,1.676,0.0000621195,EXAC_SAS_AF,BSND
8507,1:55470822:T>G,NM_057176.2:c.272+33T>G,\N,\N,2/3,Benign,\N,intron_variant,7.062,0.1271,1KG_AFR_AF,BSND
8508,1:55470827:C>T,NM_057176.2:c.272+38C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,7.306,0.00341297,EXAC_EAS_AF,BSND
8509,1:55470835:C>A,NM_057176.2:c.272+46C>A,\N,\N,2/3,Unknown significance,\N,intron_variant,8.931,0.000105352,EXAC_AFR_AF,BSND
8510,1:55470838:G>T,NM_057176.2:c.272+49G>T,\N,\N,2/3,Unknown significance,\N,intron_variant,6.948,0.000063484,EXAC_SAS_AF,BSND
8511,1:55470885:G>A,NM_057176.2:c.272+96G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,2.27,0.001,1KG_EAS_AF,BSND
8512,1:55470898:C>T,NM_057176.2:c.272+109C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,3.554,\N,\N,BSND
8513,1:55470948:G>C,NM_057176.2:c.272+159G>C,\N,\N,2/3,Unknown significance,\N,intron_variant,0.346,\N,\N,BSND
8514,1:55470969:T>C,NM_057176.2:c.272+180T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,3.323,0.0023,1KG_AFR_AF,BSND
8515,1:55471016:C>T,NM_057176.2:c.272+227C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,2.115,\N,\N,BSND
8516,1:55471017:G>A,NM_057176.2:c.272+228G>A,\N,\N,2/3,Benign,\N,intron_variant,0.148,0.0113,1KG_AFR_AF,BSND
8517,1:55471029:C>T,NM_057176.2:c.272+240C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.044,\N,\N,BSND
8518,1:55471030:G>A,NM_057176.2:c.272+241G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,0.513,0.0014,1KG_AMR_AF,BSND
8519,1:55471118:G>A,NM_057176.2:c.272+329G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,0.728,0.003,1KG_EUR_AF,BSND
8520,1:55471149:G>A,NM_057176.2:c.272+360G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,4.427,\N,\N,BSND
8521,1:55471226:C>T,NM_057176.2:c.272+437C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,10.39,\N,\N,BSND
8522,1:55471228:C>T,NM_057176.2:c.272+439C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,9.777,\N,\N,BSND
8523,1:55471229:G>A,NM_057176.2:c.272+440G>A,\N,\N,2/3,Benign,\N,intron_variant,4.87,0.2095,1KG_AFR_AF,BSND
8524,1:55471254:T>C,NM_057176.2:c.272+465T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,8.627,0.001,1KG_EAS_AF,BSND
8525,1:55471298:A>G,NM_057176.2:c.272+509A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,2.251,0.0008,1KG_AFR_AF,BSND
8526,1:55471299:G>T,NM_057176.2:c.272+510G>T,\N,\N,2/3,Benign,\N,intron_variant,0.33,0.6324,1KG_AFR_AF,BSND
8527,1:55471300:G>A,NM_057176.2:c.272+511G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,2.523,\N,\N,BSND
8528,1:55471345:A>G,NM_057176.2:c.272+556A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,6.294,0.001,1KG_EAS_AF,BSND
8529,1:55471381:C>T,NM_057176.2:c.272+592C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,5.35,\N,\N,BSND
8530,1:55471468:T>C,NM_057176.2:c.272+679T>C,\N,\N,2/3,Benign,\N,intron_variant,1.156,0.2118,1KG_AFR_AF,BSND
8531,1:55471473:G>T,NM_057176.2:c.272+684G>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.522,\N,\N,BSND
8532,1:55471474:C>A,NM_057176.2:c.272+685C>A,\N,\N,2/3,Unknown significance,\N,intron_variant,1.101,\N,\N,BSND
8533,1:55471478:G>A,NM_057176.2:c.272+689G>A,\N,\N,2/3,Benign,\N,intron_variant,2.865,0.0119,1KG_EAS_AF,BSND
8534,1:55471484:T>G,NM_057176.2:c.272+695T>G,\N,\N,2/3,Unknown significance,\N,intron_variant,4.543,\N,\N,BSND
8535,1:55471487:A>G,NM_057176.2:c.272+698A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,3.803,\N,\N,BSND
8536,1:55471501:A>G,NM_057176.2:c.272+712A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,4.633,0.002,1KG_EUR_AF,BSND
8537,1:55471514:G>A,NM_057176.2:c.272+725G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,6.041,0.0008,1KG_AFR_AF,BSND
8538,1:55471519:T>G,NM_057176.2:c.272+730T>G,\N,\N,2/3,Benign,\N,intron_variant,5.406,0.0051,1KG_SAS_AF,BSND
8539,1:55471530:G>A,NM_057176.2:c.272+741G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,3.656,\N,\N,BSND
8540,1:55471549:GTGGAGGCGGGGCCTGCACTCAGCAGTGA>G,NM_057176.2:c.272+776_272+803del,\N,\N,2/3,Unknown significance,\N,intron_variant,5.933,0.002,1KG_EUR_AF,BSND
8541,1:55471557:G>A,NM_057176.2:c.272+768G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,4.065,0.0008,1KG_AFR_AF,BSND
8542,1:55471577:A>G,NM_057176.2:c.272+788A>G,\N,\N,2/3,Benign,\N,intron_variant,1.625,0.0129,1KG_EUR_AF,BSND
8543,1:55471584:C>T,NM_057176.2:c.272+795C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,3.102,0.001,1KG_EAS_AF,BSND
8544,1:55471626:C>T,NM_057176.2:c.272+837C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,7.615,\N,\N,BSND
8545,1:55471628:C>T,NM_057176.2:c.272+839C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,8.168,0.0015,1KG_AFR_AF,BSND
8546,1:55471678:G>A,NM_057176.2:c.272+889G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,3.257,\N,\N,BSND
8547,1:55471711:G>C,NM_057176.2:c.272+922G>C,\N,\N,2/3,Benign,\N,intron_variant,1.103,0.1672,1KG_AFR_AF,BSND
8548,1:55471738:G>A,NM_057176.2:c.273-932G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,2.857,0.0023,1KG_AFR_AF,BSND
8549,1:55471752:G>A,NM_057176.2:c.273-918G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,3.945,0.001,1KG_EAS_AF,BSND
8550,1:55471760:C>T,NM_057176.2:c.273-910C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,4.345,0.0008,1KG_AFR_AF,BSND
8551,1:55471761:G>A,NM_057176.2:c.273-909G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,4.451,\N,\N,BSND
8552,1:55471769:T>C,NM_057176.2:c.273-901T>C,\N,\N,2/3,Benign,\N,intron_variant,1.195,0.764,1KG_AFR_AF,BSND
8553,1:55471790:T>C,NM_057176.2:c.273-880T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,4.523,\N,\N,BSND
8554,1:55471797:A>T,NM_057176.2:c.273-873A>T,\N,\N,2/3,Unknown significance,\N,intron_variant,4.712,0.001,1KG_EAS_AF,BSND
8555,1:55471902:C>T,NM_057176.2:c.273-768C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,1.602,\N,\N,BSND
8556,1:55471913:C>T,NM_057176.2:c.273-757C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.224,\N,\N,BSND
8557,1:55471925:G>A,NM_057176.2:c.273-745G>A,\N,\N,2/3,Benign,\N,intron_variant,3.64,0.007,1KG_EUR_AF,BSND
8558,1:55471927:G>A,NM_057176.2:c.273-743G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,5.042,\N,\N,BSND
8559,1:55471941:C>G,NM_057176.2:c.273-729C>G,\N,\N,2/3,Unknown significance,\N,intron_variant,0.221,\N,\N,BSND
8560,1:55471954:G>A,NM_057176.2:c.273-716G>A,\N,\N,2/3,Benign,\N,intron_variant,6.906,0.0363,1KG_AFR_AF,BSND
8561,1:55471980:C>T,NM_057176.2:c.273-690C>T,\N,\N,2/3,Benign,\N,intron_variant,3.244,0.0099,1KG_EUR_AF,BSND
8562,1:55472021:T>G,NM_057176.2:c.273-649T>G,\N,\N,2/3,Unknown significance,\N,intron_variant,6.839,\N,\N,BSND
8563,1:55472054:A>G,NM_057176.2:c.273-616A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,3.973,\N,\N,BSND
8564,1:55472075:T>C,NM_057176.2:c.273-595T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,0.196,0.0008,1KG_AFR_AF,BSND
8565,1:55472098:T>G,NM_057176.2:c.273-572T>G,\N,\N,2/3,Unknown significance,\N,intron_variant,3.315,\N,\N,BSND
8566,1:55472114:C>T,NM_057176.2:c.273-556C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.642,0.001,1KG_SAS_AF,BSND
8567,1:55472115:G>A,NM_057176.2:c.273-555G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,1.687,\N,\N,BSND
8568,1:55472155:A>C,NM_057176.2:c.273-515A>C,\N,\N,2/3,Unknown significance,\N,intron_variant,1.253,0.0008,1KG_AFR_AF,BSND
8569,1:55472161:T>C,NM_057176.2:c.273-509T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,0.627,\N,\N,BSND
8570,1:55472176:G>T,NM_057176.2:c.273-494G>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.388,0.001,1KG_SAS_AF,BSND
8571,1:55472262:C>T,NM_057176.2:c.273-408C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,1.077,0.001,1KG_EAS_AF,BSND
8572,1:55472356:C>T,NM_057176.2:c.273-314C>T,\N,\N,2/3,Benign,\N,intron_variant,3.967,0.0099,1KG_EUR_AF,BSND
8573,1:55472365:G>A,NM_057176.2:c.273-305G>A,\N,\N,2/3,Benign,\N,intron_variant,0.535,0.8124,1KG_AFR_AF,BSND
8574,1:55472383:G>A,NM_057176.2:c.273-287G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,1.03,0.001,1KG_EAS_AF,BSND
8575,1:55472408:T>C,NM_057176.2:c.273-262T>C,\N,\N,2/3,Unknown significance,\N,intron_variant,1.474,0.001,1KG_EUR_AF,BSND
8576,1:55472427:C>T,NM_057176.2:c.273-243C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,3.261,\N,\N,BSND
8577,1:55472450:TAG>T,NM_057176.2:c.273-215_273-214del,\N,\N,2/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8578,1:55472480:C>A,NM_057176.2:c.273-190C>A,\N,\N,2/3,Unknown significance,\N,intron_variant,4.324,0.001,1KG_EUR_AF,BSND
8579,1:55472493:T>A,NM_057176.2:c.273-177T>A,\N,\N,2/3,Unknown significance,\N,intron_variant,6.553,\N,\N,BSND
8580,1:55472534:C>T,NM_057176.2:c.273-136C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.609,0.0008,1KG_AFR_AF,BSND
8581,1:55472535:G>A,NM_057176.2:c.273-135G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,2.612,0.001,1KG_SAS_AF,BSND
8582,1:55472538:C>T,NM_057176.2:c.273-132C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.682,0.001,1KG_EAS_AF,BSND
8583,1:55472539:G>A,NM_057176.2:c.273-131G>A,\N,\N,2/3,Benign,\N,intron_variant,0.466,0.0982,1KG_SAS_AF,BSND
8584,1:55472558:G>C,NM_057176.2:c.273-112G>C,\N,\N,2/3,Benign,\N,intron_variant,0.146,0.0303,1KG_AFR_AF,BSND
8585,1:55472584:C>T,NM_057176.2:c.273-86C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,4.978,\N,\N,BSND
8586,1:55472596:A>C,NM_057176.2:c.273-74A>C,\N,\N,2/3,Unknown significance,\N,intron_variant,1.471,\N,\N,BSND
8587,1:55472605:C>T,NM_057176.2:c.273-65C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,1.736,0.0008,1KG_AFR_AF,BSND
8588,1:55472606:G>A,NM_057176.2:c.273-64G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,0.441,0.0008,1KG_AFR_AF,BSND
8589,1:55472633:A>G,NM_057176.2:c.273-37A>G,\N,\N,2/3,Unknown significance,\N,intron_variant,6.976,0.00011655,EXAC_EAS_AF,BSND
8590,1:55472633:A>T,NM_057176.2:c.273-37A>T,\N,\N,2/3,Unknown significance,\N,intron_variant,6.183,0.0000155183,EXAC_NFE_AF,BSND
8591,1:55472635:T>A,NM_057176.2:c.273-35T>A,\N,\N,2/3,Unknown significance,\N,intron_variant,9.009,0.000152161,EXAC_FIN_AF,BSND
8592,1:55472636:CTT>C,NM_057176.2:c.273-32_273-31del,\N,\N,2/3,Unknown significance,\N,intron_variant,6.891,0.000347464,EXAC_AMR_AF,BSND
8593,1:55472641:C>T,NM_057176.2:c.273-29C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,5.533,0.0000869112,EXAC_AMR_AF,BSND
8594,1:55472642:C>T,NM_057176.2:c.273-28C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,2.189,0.001,1KG_SAS_AF,BSND
8595,1:55472643:G>T,NM_057176.2:c.273-27G>T,\N,\N,2/3,Unknown significance,\N,intron_variant,0.447,0.000347524,EXAC_AMR_AF,BSND
8596,1:55472649:C>T,NM_057176.2:c.273-21C>T,\N,\N,2/3,Unknown significance,\N,intron_variant,4.268,0.0000607607,EXAC_SAS_AF,BSND
8597,1:55472651:G>A,NM_057176.2:c.273-19G>A,\N,\N,2/3,Unknown significance,\N,intron_variant,0.476,0.0008,1KG_AFR_AF,BSND
8598,1:55472665:T>A,NM_057176.2:c.273-5T>A,\N,\N,2/3,Unknown significance,\N,splice_region_variant&intron_variant,2.629,0.000060687,EXAC_SAS_AF,BSND
8599,1:55472670:C>T,NM_057176.2:c.273C>T,NP_476517.1:p.Ser91=,3/4,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,4.942,\N,\N,BSND
8600,1:55472679:C>T,NM_057176.2:c.282C>T,NP_476517.1:p.Pro94=,3/4,\N,Unknown significance,\N,synonymous_variant,11.25,0.000314334,EXAC_AFR_AF,BSND
8601,1:55472683:C>T,NM_057176.2:c.286C>T,NP_476517.1:p.Pro96Ser,3/4,\N,Unknown significance,\N,missense_variant,20.5,0.0014,1KG_AMR_AF,BSND
8602,1:55472684:C>T,NM_057176.2:c.287C>T,NP_476517.1:p.Pro96Leu,3/4,\N,Unknown significance,\N,missense_variant,20.7,0.000232288,EXAC_EAS_AF,BSND
8603,1:55472685:G>A,NM_057176.2:c.288G>A,NP_476517.1:p.Pro96=,3/4,\N,Unknown significance,\N,synonymous_variant,7.386,0.000104232,EXAC_AFR_AF,BSND
8604,1:55472690:A>G,NM_057176.2:c.293A>G,NP_476517.1:p.Tyr98Cys,3/4,\N,Unknown significance,\N,missense_variant,24.4,0.0001734,EXAC_AMR_AF,BSND
8605,1:55472694:A>G,NM_057176.2:c.297A>G,NP_476517.1:p.Val99=,3/4,\N,Unknown significance,\N,synonymous_variant,1.238,0.0000153346,EXAC_NFE_AF,BSND
8606,1:55472697:G>A,NM_057176.2:c.300G>A,NP_476517.1:p.Arg100=,3/4,\N,Unknown significance,\N,synonymous_variant,8.299,\N,\N,BSND
8607,1:55472698:C>G,NM_057176.2:c.301C>G,NP_476517.1:p.Leu101Val,3/4,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,BSND
8608,1:55472698:C>CT,NM_057176.2:c.302dup,NP_476517.1:p.Trp102ValfsTer7,3/4,\N,Pathogenic,Bartter syndrome with sensorineural deafness,frameshift_variant,27.9,\N,\N,BSND
8609,1:55472706:G>C,NM_057176.2:c.309G>C,NP_476517.1:p.Glu103Asp,3/4,\N,Likely benign,\N,missense_variant,9.495,0.00224719,EXAC_OTH_AF,BSND
8610,1:55472712:C>T,NM_057176.2:c.315C>T,NP_476517.1:p.Ala105=,3/4,\N,Unknown significance,\N,synonymous_variant,16.87,0.000181708,EXAC_SAS_AF,BSND
8611,1:55472713:G>A,NM_057176.2:c.316G>A,NP_476517.1:p.Ala106Thr,3/4,\N,Unknown significance,\N,missense_variant,24.3,0.0000152133,EXAC_NFE_AF,BSND
8612,1:55472714:C>T,NM_057176.2:c.317C>T,NP_476517.1:p.Ala106Val,3/4,\N,Unknown significance,\N,missense_variant,25.8,0.000115955,EXAC_EAS_AF,BSND
8613,1:55472723:A>G,NM_057176.2:c.326A>G,NP_476517.1:p.Gln109Arg,3/4,\N,Unknown significance,\N,missense_variant,24.1,0.000115848,EXAC_EAS_AF,BSND
8614,1:55472731:C>A,NM_057176.2:c.334C>A,NP_476517.1:p.Pro112Thr,3/4,\N,Unknown significance,\N,missense_variant,27.9,0.0000151176,EXAC_NFE_AF,BSND
8615,1:55472731:CCT>C,NM_057176.2:c.335_336del,NP_476517.1:p.Pro112ArgfsTer14,3/4,\N,Unknown significance,\N,frameshift_variant,34,0.000121139,EXAC_SAS_AF,BSND
8616,1:55472738:T>A,NM_057176.2:c.341T>A,NP_476517.1:p.Phe114Tyr,3/4,\N,Likely benign,\N,missense_variant,23.4,0.0000864753,EXAC_AMR_AF,BSND
8617,1:55472741:G>A,NM_057176.2:c.344G>A,NP_476517.1:p.Ser115Asn,3/4,\N,Likely benign,\N,missense_variant,14.04,0.0000605694,EXAC_SAS_AF,BSND
8618,1:55472745:C>T,NM_057176.2:c.348C>T,NP_476517.1:p.His116=,3/4,\N,Unknown significance,\N,synonymous_variant,13.98,0.0000150716,EXAC_NFE_AF,BSND
8619,1:55472750:A>G,NM_057176.2:c.353A>G,NP_476517.1:p.Gln118Arg,3/4,\N,Unknown significance,\N,missense_variant,16.53,0.000345781,EXAC_AMR_AF,BSND
8620,1:55472752:A>G,NM_057176.2:c.355A>G,NP_476517.1:p.Met119Val,3/4,\N,Unknown significance,\N,missense_variant,14.52,0.002,1KG_EAS_AF,BSND
8621,1:55472753:T>C,NM_057176.2:c.356T>C,NP_476517.1:p.Met119Thr,3/4,\N,Unknown significance,\N,missense_variant,24.3,0.0000150485,EXAC_NFE_AF,BSND
8622,1:55472757:A>G,NM_057176.2:c.360A>G,NP_476517.1:p.Lys120=,3/4,\N,Unknown significance,\N,synonymous_variant,3.217,0.000116279,EVS_EA_AF,BSND
8623,1:55472761:A>G,NM_057176.2:c.364A>G,NP_476517.1:p.Met122Val,3/4,\N,Likely benign,\N,missense_variant,3.386,\N,\N,BSND
8624,1:55472762:T>C,NM_057176.2:c.365T>C,NP_476517.1:p.Met122Thr,3/4,\N,Likely benign,\N,missense_variant,9.367,0.0000150322,EXAC_NFE_AF,BSND
8625,1:55472767:T>A,NM_057176.2:c.370T>A,NP_476517.1:p.Tyr124Asn,3/4,\N,Likely benign,\N,missense_variant,23.5,0.000115768,EXAC_EAS_AF,BSND
8626,1:55472768:A>G,NM_057176.2:c.371A>G,NP_476517.1:p.Tyr124Cys,3/4,\N,Likely benign,\N,missense_variant,14.33,0.000302389,EXAC_FIN_AF,BSND
8627,1:55472772:T>C,NM_057176.2:c.375T>C,NP_476517.1:p.Ser125=,3/4,\N,Unknown significance,\N,synonymous_variant,6.415,0.0000450599,EXAC_NFE_AF,BSND
8628,1:55472782:C>T,NM_057176.2:c.385C>T,NP_476517.1:p.Arg129Cys,3/4,\N,Unknown significance,\N,missense_variant,24.3,0.000115741,EXAC_EAS_AF,BSND
8629,1:55472783:G>A,NM_057176.2:c.386G>A,NP_476517.1:p.Arg129His,3/4,\N,Likely benign,\N,missense_variant,9.674,0.000226963,EVS_AA_AF,BSND
8630,1:55472785:T>TCCTTGCTG,NM_057176.2:c.389_396dup,NP_476517.1:p.Ala133ProfsTer48,3/4,\N,Unknown significance,\N,frameshift_variant,27.7,\N,\N,BSND
8631,1:55472790:G>A,NM_057176.2:c.393G>A,NP_476517.1:p.Leu131=,3/4,\N,Unknown significance,\N,synonymous_variant,5.031,0.00090854,EXAC_SAS_AF,BSND
8632,1:55472790:G>T,NM_057176.2:c.393G>T,NP_476517.1:p.Leu131Phe,3/4,\N,Unknown significance,\N,missense_variant,23.8,0.00110619,EXAC_OTH_AF,BSND
8633,1:55472799:T>C,NM_057176.2:c.402T>C,NP_476517.1:p.Pro134=,3/4,\N,Unknown significance,\N,synonymous_variant,0.058,0.000226963,EVS_AA_AF,BSND
8634,1:55472802:G>A,NM_057176.2:c.405G>A,NP_476517.1:p.Glu135=,3/4,\N,Unknown significance,\N,synonymous_variant,0.999,0.000096432,EXAC_AFR_AF,BSND
8635,1:55472806:G>A,NM_057176.2:c.409G>A,NP_476517.1:p.Gly137Arg,3/4,\N,Unknown significance,\N,missense_variant,19.55,0.0000863707,EXAC_AMR_AF,BSND
8636,1:55472808:G>A,NM_057176.2:c.411G>A,NP_476517.1:p.Gly137=,3/4,\N,Unknown significance,\N,synonymous_variant,1.353,0.000192641,EXAC_AFR_AF,BSND
8637,1:55472809:C>T,NM_057176.2:c.412C>T,NP_476517.1:p.Gln138Ter,3/4,\N,Unknown significance,\N,stop_gained,33,0.0000605694,EXAC_SAS_AF,BSND
8638,1:55472812:C>T,NM_057176.2:c.415C>T,NP_476517.1:p.Pro139Ser,3/4,\N,Likely benign,\N,missense_variant,8.482,0.0000605694,EXAC_SAS_AF,BSND
8639,1:55472813:C>T,NM_057176.2:c.416C>T,NP_476517.1:p.Pro139Leu,3/4,\N,Likely benign,\N,missense_variant,0.003,0.00090854,EXAC_SAS_AF,BSND
8640,1:55472814:G>A,NM_057176.2:c.417G>A,NP_476517.1:p.Pro139=,3/4,\N,Unknown significance,\N,synonymous_variant,8.252,0.000259157,EXAC_AMR_AF,BSND
8641,1:55472821:G>A,NM_057176.2:c.424G>A,NP_476517.1:p.Gly142Arg,3/4,\N,Likely benign,\N,missense_variant,8.467,0.000115607,EXAC_EAS_AF,BSND
8642,1:55472822:G>A,NM_057176.2:c.425G>A,NP_476517.1:p.Gly142Glu,3/4,\N,Likely benign,\N,missense_variant,0.081,0.0013876,EXAC_EAS_AF,BSND
8643,1:55472826:C>T,NM_057176.2:c.429C>T,NP_476517.1:p.Thr143=,3/4,\N,Unknown significance,\N,synonymous_variant,11.87,0.000014997,EXAC_NFE_AF,BSND
8644,1:55472829:T>C,NM_057176.2:c.432T>C,NP_476517.1:p.Ser144=,3/4,\N,Unknown significance,\N,synonymous_variant,3.556,0.0000149957,EXAC_NFE_AF,BSND
8645,1:55472843:G>T,NM_057176.2:c.446G>T,NP_476517.1:p.Gly149Val,3/4,\N,Unknown significance,\N,missense_variant,23.8,0.0000605694,EXAC_SAS_AF,BSND
8646,1:55472846:GC>G,NM_057176.2:c.452del,NP_476517.1:p.Pro151LeufsTer27,3/4,\N,Unknown significance,\N,frameshift_variant,24.1,0.000242248,EXAC_SAS_AF,BSND
8647,1:55472853:C>T,NM_057176.2:c.456C>T,NP_476517.1:p.Gly152=,3/4,\N,Unknown significance,\N,synonymous_variant,13.93,0.000115634,EXAC_EAS_AF,BSND
8648,1:55472854:G>A,NM_057176.2:c.457G>A,NP_476517.1:p.Asp153Asn,3/4,\N,Likely benign,\N,missense_variant,8.787,0.000116279,EVS_EA_AF,BSND
8649,1:55472856:C>T,NM_057176.2:c.459C>T,NP_476517.1:p.Asp153=,3/4,\N,Unknown significance,\N,synonymous_variant,11.8,0.00413843,EXAC_NFE_AF,BSND
8650,1:55472857:G>A,NM_057176.2:c.460G>A,NP_476517.1:p.Val154Ile,3/4,\N,Likely benign,\N,missense_variant,0.59,0.0043,1KG_AMR_AF,BSND
8651,1:55472858:T>C,NM_057176.2:c.461T>C,NP_476517.1:p.Val154Ala,3/4,\N,Likely benign,\N,missense_variant,0.017,0.0000149952,EXAC_NFE_AF,BSND
8652,1:55472862:G>A,NM_057176.2:c.465G>A,NP_476517.1:p.Gln155=,3/4,\N,Unknown significance,\N,synonymous_variant,3.416,0.001,1KG_EAS_AF,BSND
8653,1:55472863:G>A,NM_057176.2:c.466G>A,NP_476517.1:p.Ala156Thr,3/4,\N,Likely benign,\N,missense_variant,13.37,0.0000299958,EXAC_NFE_AF,BSND
8654,1:55472865:C>G,NM_057176.2:c.468C>G,NP_476517.1:p.Ala156=,3/4,\N,Unknown significance,\N,synonymous_variant,10.82,0.0000149997,EXAC_NFE_AF,BSND
8655,1:55472876:C>T,NM_057176.2:c.479C>T,NP_476517.1:p.Ala160Val,3/4,\N,Unknown significance,\N,missense_variant,26,0.000182061,EXAC_SAS_AF,BSND
8656,1:55472879:C>T,NM_057176.2:c.482C>T,NP_476517.1:p.Ala161Val,3/4,\N,Likely benign,\N,missense_variant,12.6,0.00110619,EXAC_OTH_AF,BSND
8657,1:55472880:C>T,NM_057176.2:c.483C>T,NP_476517.1:p.Ala161=,3/4,\N,Unknown significance,\N,synonymous_variant,11.72,0.000242836,EXAC_SAS_AF,BSND
8658,1:55472881:G>A,NM_057176.2:c.484G>A,NP_476517.1:p.Val162Met,3/4,\N,Unknown significance,\N,missense_variant,24.2,0.000691085,EXAC_AMR_AF,BSND
8659,1:55472892:C>T,NM_057176.2:c.495C>T,NP_476517.1:p.His165=,3/4,\N,Unknown significance,\N,synonymous_variant,6.477,0.0000150249,EXAC_NFE_AF,BSND
8660,1:55472897:G>T,NM_057176.2:c.500G>T,NP_476517.1:p.Gly167Val,3/4,\N,Likely benign,\N,missense_variant,23.2,0.000030086,EXAC_NFE_AF,BSND
8661,1:55472899:T>C,NM_057176.2:c.502T>C,NP_476517.1:p.Ser168Pro,3/4,\N,Likely benign,\N,missense_variant,5.376,0.001,1KG_EUR_AF,BSND
8662,1:55472904:C>T,NM_057176.2:c.507C>T,NP_476517.1:p.Asp169=,3/4,\N,Unknown significance,\N,synonymous_variant,9.853,0.0000301368,EXAC_NFE_AF,BSND
8663,1:55472905:G>A,NM_057176.2:c.508G>A,NP_476517.1:p.Glu170Lys,3/4,\N,Likely benign,\N,missense_variant,23.1,0.000126695,EXAC_SAS_AF,BSND
8664,1:55472905:G>GA,NM_057176.2:c.509dup,NP_476517.1:p.Ser171GlufsTer2,3/4,\N,Unknown significance,\N,frameshift_variant,24.8,0.0000150807,EXAC_NFE_AF,BSND
8665,1:55472911:G>A,NM_057176.2:c.514G>A,NP_476517.1:p.Glu172Lys,3/4,\N,Likely benign,\N,missense_variant,10.86,0.000105759,EXAC_NFE_AF,BSND
8666,1:55472913:A>T,NM_057176.2:c.516A>T,NP_476517.1:p.Glu172Asp,3/4,\N,Likely benign,\N,missense_variant,11.39,0.00117187,EXAC_SAS_AF,BSND
8667,1:55472923:C>T,NM_057176.2:c.526C>T,NP_476517.1:p.Arg176Cys,3/4,\N,Likely benign,\N,missense_variant,6.066,0.003,1KG_EAS_AF,BSND
8668,1:55472924:G>A,NM_057176.2:c.527G>A,NP_476517.1:p.Arg176His,3/4,\N,Likely benign,\N,missense_variant,0.061,0.00295052,EVS_AA_AF,BSND
8669,1:55472931:T>G,NM_057176.2:c.534T>G,NP_476517.1:p.Thr178=,3/4,\N,Unknown significance,\N,synonymous_variant,1.265,0.0000970497,EXAC_AFR_AF,BSND
8670,1:55472943:C>T,NM_057176.2:c.546C>T,NP_476517.1:p.Pro182=,3/4,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,0.139,0.000173551,EXAC_AMR_AF,BSND
8671,1:55472944:G>A,NM_057176.2:c.547G>A,NP_476517.1:p.Gly183Ser,3/4,\N,Likely benign,\N,missense_variant&splice_region_variant,0.022,0.000801667,EXAC_SAS_AF,BSND
8672,1:55472944:G>T,NM_057176.2:c.547G>T,NP_476517.1:p.Gly183Cys,3/4,\N,Likely benign,\N,missense_variant&splice_region_variant,8.586,0.0000153723,EXAC_NFE_AF,BSND
8673,1:55472946:G>A,NM_057176.2:c.548+1G>A,\N,\N,3/3,Unknown significance,\N,splice_donor_variant,22.6,0.0000153841,EXAC_NFE_AF,BSND
8674,1:55472946:G>T,NM_057176.2:c.548+1G>T,\N,\N,3/3,Unknown significance,\N,splice_donor_variant,21.8,0.0000461524,EXAC_NFE_AF,BSND
8675,1:55472949:A>G,NM_057176.2:c.548+4A>G,\N,\N,3/3,Unknown significance,\N,splice_region_variant&intron_variant,8.319,0.00008259,EXAC_SAS_AF,BSND
8676,1:55472955:T>C,NM_057176.2:c.548+10T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,0.813,0.00136178,EVS_AA_AF,BSND
8677,1:55472959:G>A,NM_057176.2:c.548+14G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,4.799,0.0000155294,EXAC_NFE_AF,BSND
8678,1:55472960:G>T,NM_057176.2:c.548+15G>T,\N,\N,3/3,Unknown significance,\N,intron_variant,0.295,0.0000908926,EXAC_SAS_AF,BSND
8679,1:55472975:T>C,NM_057176.2:c.548+30T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,1.264,\N,\N,BSND
8680,1:55472977:T>C,NM_057176.2:c.548+32T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,3.028,0.0000157267,EXAC_NFE_AF,BSND
8681,1:55472988:A>C,NM_057176.2:c.548+43A>C,\N,\N,3/3,Unknown significance,\N,intron_variant,3.014,0.0000159144,EXAC_NFE_AF,BSND
8682,1:55473008:T>G,NM_057176.2:c.548+63T>G,\N,\N,3/3,Benign,\N,intron_variant,0.186,0.0764,1KG_EAS_AF,BSND
8683,1:55473019:C>T,NM_057176.2:c.548+74C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,2.048,\N,\N,BSND
8684,1:55473020:G>A,NM_057176.2:c.548+75G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,0.851,0.003,1KG_EAS_AF,BSND
8685,1:55473027:G>A,NM_057176.2:c.548+82G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,1.809,\N,\N,BSND
8686,1:55473043:G>A,NM_057176.2:c.548+98G>A,\N,\N,3/3,Benign,\N,intron_variant,7.166,0.6505,1KG_AFR_AF,BSND
8687,1:55473055:G>T,NM_057176.2:c.548+110G>T,\N,\N,3/3,Unknown significance,\N,intron_variant,15.43,0.0014,1KG_AMR_AF,BSND
8688,1:55473079:G>A,NM_057176.2:c.548+134G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,4.04,0.0008,1KG_AFR_AF,BSND
8689,1:55473106:G>A,NM_057176.2:c.548+161G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,5.056,0.0023,1KG_AFR_AF,BSND
8690,1:55473127:G>T,NM_057176.2:c.548+182G>T,\N,\N,3/3,Unknown significance,\N,intron_variant,1.056,\N,\N,BSND
8691,1:55473154:C>A,NM_057176.2:c.548+209C>A,\N,\N,3/3,Unknown significance,\N,intron_variant,6.727,0.002,1KG_EAS_AF,BSND
8692,1:55473165:T>C,NM_057176.2:c.548+220T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,3.721,0.001,1KG_SAS_AF,BSND
8693,1:55473247:G>C,NM_057176.2:c.548+302G>C,\N,\N,3/3,Unknown significance,\N,intron_variant,0.441,0.003,1KG_EUR_AF,BSND
8694,1:55473302:G>A,NM_057176.2:c.548+357G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,1.612,\N,\N,BSND
8695,1:55473305:G>A,NM_057176.2:c.548+360G>A,\N,\N,3/3,Benign,\N,intron_variant,1.684,0.0058,1KG_AMR_AF,BSND
8696,1:55473307:G>T,NM_057176.2:c.548+362G>T,\N,\N,3/3,Unknown significance,\N,intron_variant,2.812,\N,\N,BSND
8697,1:55473319:G>T,NM_057176.2:c.548+374G>T,\N,\N,3/3,Unknown significance,\N,intron_variant,2.649,\N,\N,BSND
8698,1:55473337:C>T,NM_057176.2:c.548+392C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,5.013,\N,\N,BSND
8699,1:55473366:T>C,NM_057176.2:c.548+421T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,2.987,0.002,1KG_EAS_AF,BSND
8700,1:55473383:C>A,NM_057176.2:c.548+438C>A,\N,\N,3/3,Unknown significance,\N,intron_variant,5.576,0.0014,1KG_AMR_AF,BSND
8701,1:55473386:G>A,NM_057176.2:c.548+441G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,5.82,\N,\N,BSND
8702,1:55473394:CCACT>C,NM_057176.2:c.548+451_548+454del,\N,\N,3/3,Unknown significance,\N,intron_variant,\N,\N,\N,BSND
8703,1:55473410:CCTGT>C,NM_057176.2:c.548+470_549-469del,\N,\N,3/3,Benign,\N,intron_variant,4.682,0.1912,1KG_SAS_AF,BSND
8704,1:55473411:C>T,NM_057176.2:c.548+466C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,6.004,0.003,1KG_AFR_AF,BSND
8705,1:55473442:T>C,NM_057176.2:c.549-445T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,3.217,\N,\N,BSND
8706,1:55473448:T>C,NM_057176.2:c.549-439T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,1.472,0.0008,1KG_AFR_AF,BSND
8707,1:55473457:A>G,NM_057176.2:c.549-430A>G,\N,\N,3/3,Unknown significance,\N,intron_variant,7.388,\N,\N,BSND
8708,1:55473534:T>C,NM_057176.2:c.549-353T>C,\N,\N,3/3,Benign,\N,intron_variant,0.276,0.006,1KG_EAS_AF,BSND
8709,1:55473553:C>G,NM_057176.2:c.549-334C>G,\N,\N,3/3,Unknown significance,\N,intron_variant,2.995,\N,\N,BSND
8710,1:55473553:C>T,NM_057176.2:c.549-334C>T,\N,\N,3/3,Benign,\N,intron_variant,4.883,0.0295,1KG_AFR_AF,BSND
8711,1:55473562:C>T,NM_057176.2:c.549-325C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,5.844,0.001,1KG_SAS_AF,BSND
8712,1:55473574:G>A,NM_057176.2:c.549-313G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,2.738,0.002,1KG_SAS_AF,BSND
8713,1:55473658:C>T,NM_057176.2:c.549-229C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,6.935,\N,\N,BSND
8714,1:55473665:A>T,NM_057176.2:c.549-222A>T,\N,\N,3/3,Unknown significance,\N,intron_variant,2.037,0.001,1KG_EAS_AF,BSND
8715,1:55473676:C>T,NM_057176.2:c.549-211C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,7.572,0.003,1KG_EUR_AF,BSND
8716,1:55473708:A>G,NM_057176.2:c.549-179A>G,\N,\N,3/3,Unknown significance,\N,intron_variant,2.025,0.001,1KG_EAS_AF,BSND
8717,1:55473709:C>CAT,NM_057176.2:c.549-175_549-174dup,\N,\N,3/3,Unknown significance,\N,intron_variant,8.454,\N,\N,BSND
8718,1:55473741:G>C,NM_057176.2:c.549-146G>C,\N,\N,3/3,Unknown significance,\N,intron_variant,0.17,0.0015,1KG_AFR_AF,BSND
8719,1:55473775:G>A,NM_057176.2:c.549-112G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,8.426,0.0008,1KG_AFR_AF,BSND
8720,1:55473779:C>T,NM_057176.2:c.549-108C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,1.273,0.0014,1KG_AMR_AF,BSND
8721,1:55473780:G>A,NM_057176.2:c.549-107G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,2.142,\N,\N,BSND
8722,1:55473792:T>C,NM_057176.2:c.549-95T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,4.787,0.0008,1KG_AFR_AF,BSND
8723,1:55473802:T>C,NM_057176.2:c.549-85T>C,\N,\N,3/3,Benign,\N,intron_variant,1.38,0.1207,1KG_SAS_AF,BSND
8724,1:55473819:G>A,NM_057176.2:c.549-68G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,4.528,\N,\N,BSND
8725,1:55473821:C>T,NM_057176.2:c.549-66C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,6.136,\N,\N,BSND
8726,1:55473833:C>T,NM_057176.2:c.549-54C>T,\N,\N,3/3,Unknown significance,\N,intron_variant,10.18,0.001,1KG_EAS_AF,BSND
8727,1:55473838:G>A,NM_057176.2:c.549-49G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,9.729,0.0000355139,EXAC_NFE_AF,BSND
8728,1:55473851:G>A,NM_057176.2:c.549-36G>A,\N,\N,3/3,Unknown significance,\N,intron_variant,8.266,0.0000656426,EXAC_SAS_AF,BSND
8729,1:55473863:C>A,NM_057176.2:c.549-24C>A,\N,\N,3/3,Unknown significance,\N,intron_variant,5.048,\N,\N,BSND
8730,1:55473878:T>C,NM_057176.2:c.549-9T>C,\N,\N,3/3,Unknown significance,\N,intron_variant,5.706,0.0000159276,EXAC_NFE_AF,BSND
8731,1:55473884:C>T,NM_057176.2:c.549-3C>T,\N,\N,3/3,Unknown significance,\N,splice_region_variant&intron_variant,10.6,0.000116279,EVS_EA_AF,BSND
8732,1:55473888:C>T,NM_057176.2:c.550C>T,NP_476517.1:p.Pro184Ser,4/4,\N,Likely benign,\N,missense_variant&splice_region_variant,2.963,0.0000891583,EXAC_AMR_AF,BSND
8733,1:55473908:C>T,NM_057176.2:c.570C>T,NP_476517.1:p.Gly190=,4/4,\N,Unknown significance,\N,synonymous_variant,14.3,0.001,1KG_SAS_AF,BSND
8734,1:55473909:C>G,NM_057176.2:c.571C>G,NP_476517.1:p.Pro191Ala,4/4,\N,Likely benign,\N,missense_variant,11.56,\N,\N,BSND
8735,1:55473913:C>T,NM_057176.2:c.575C>T,NP_476517.1:p.Ala192Val,4/4,\N,Unknown significance,\N,missense_variant,33,0.00010445,EXAC_AFR_AF,BSND
8736,1:55473918:T>G,NM_057176.2:c.580T>G,NP_476517.1:p.Leu194Val,4/4,\N,Unknown significance,\N,missense_variant,24.7,0.0000610203,EXAC_SAS_AF,BSND
8737,1:55473925:C>A,NM_057176.2:c.587C>A,NP_476517.1:p.Ser196Tyr,4/4,\N,Unknown significance,\N,missense_variant,31,0.0000609013,EXAC_SAS_AF,BSND
8738,1:55473932:A>G,NM_057176.2:c.594A>G,NP_476517.1:p.Gln198=,4/4,\N,Unknown significance,\N,synonymous_variant,6.423,0.000101523,EXAC_AFR_AF,BSND
8739,1:55473935:T>C,NM_057176.2:c.597T>C,NP_476517.1:p.Asp199=,4/4,\N,Benign,\N,synonymous_variant,4.21,0.0179625,EXAC_AMR_AF,BSND
8740,1:55473937:A>T,NM_057176.2:c.599A>T,NP_476517.1:p.Asp200Val,4/4,\N,Unknown significance,\N,missense_variant,27.1,0.0000867604,EXAC_AMR_AF,BSND
8741,1:55473938:C>A,NM_057176.2:c.600C>A,NP_476517.1:p.Asp200Glu,4/4,\N,Likely benign,\N,missense_variant,17.99,0.0000304664,EXAC_NFE_AF,BSND
8742,1:55473950:C>T,NM_057176.2:c.612C>T,NP_476517.1:p.Asp204=,4/4,\N,Unknown significance,\N,synonymous_variant,12.14,0.0000866551,EXAC_AMR_AF,BSND
8743,1:55473952:C>T,NM_057176.2:c.614C>T,NP_476517.1:p.Ser205Phe,4/4,\N,Likely benign,\N,missense_variant,23.8,0.000182149,EXAC_SAS_AF,BSND
8744,1:55473954:A>C,NM_057176.2:c.616A>C,NP_476517.1:p.Ser206Arg,4/4,\N,Unknown significance,\N,missense_variant,24.4,0.0000607165,EXAC_SAS_AF,BSND
8745,1:55473958:A>T,NM_057176.2:c.620A>T,NP_476517.1:p.Glu207Val,4/4,\N,Unknown significance,\N,missense_variant,26.5,0.0000151332,EXAC_NFE_AF,BSND
8746,1:55473969:C>T,NM_057176.2:c.631C>T,NP_476517.1:p.Pro211Ser,4/4,\N,Likely benign,\N,missense_variant,23.1,0.000115848,EXAC_EAS_AF,BSND
8747,1:55473972:A>C,NM_057176.2:c.634A>C,NP_476517.1:p.Asn212His,4/4,\N,Likely benign,\N,missense_variant,0.232,0.0000150843,EXAC_NFE_AF,BSND
8748,1:55473973:A>G,NM_057176.2:c.635A>G,NP_476517.1:p.Asn212Ser,4/4,\N,Likely benign,\N,missense_variant,0.001,0.0031,1KG_SAS_AF,BSND
8749,1:55473974:T>C,NM_057176.2:c.636T>C,NP_476517.1:p.Asn212=,4/4,\N,Unknown significance,\N,synonymous_variant,0.015,0.000115848,EXAC_EAS_AF,BSND
8750,1:55473985:A>G,NM_057176.2:c.647A>G,NP_476517.1:p.His216Arg,4/4,\N,Likely benign,\N,missense_variant,0.003,0.0015,1KG_AFR_AF,BSND
8751,1:55473988:A>G,NM_057176.2:c.650A>G,NP_476517.1:p.Asp217Gly,4/4,\N,Likely benign,\N,missense_variant,3.177,0.0000606134,EXAC_SAS_AF,BSND
8752,1:55474011:C>T,NM_057176.2:c.673C>T,NP_476517.1:p.Gln225Ter,4/4,\N,Unknown significance,\N,stop_gained,33,0.0000600745,EXAC_NFE_AF,BSND
8753,1:55474012:A>T,NM_057176.2:c.674A>T,NP_476517.1:p.Gln225Leu,4/4,\N,Likely benign,\N,missense_variant,0.001,0.000115634,EXAC_EAS_AF,BSND
8754,1:55474013:A>T,NM_057176.2:c.675A>T,NP_476517.1:p.Gln225His,4/4,\N,Likely benign,\N,missense_variant,0.017,0.0008,1KG_AFR_AF,BSND
8755,1:55474015:A>C,NM_057176.2:c.677A>C,NP_476517.1:p.Gln226Pro,4/4,\N,Likely benign,\N,missense_variant,0.01,\N,\N,BSND
8756,1:55474023:C>T,NM_057176.2:c.685C>T,NP_476517.1:p.Gln229Ter,4/4,\N,Unknown significance,\N,stop_gained,23.2,0.0000300381,EXAC_NFE_AF,BSND
8757,1:55474028:C>A,NM_057176.2:c.690C>A,NP_476517.1:p.Gly230=,4/4,\N,Unknown significance,\N,synonymous_variant,9.053,0.000116279,EVS_EA_AF,BSND
8758,1:55474039:C>T,NM_057176.2:c.701C>T,NP_476517.1:p.Pro234Leu,4/4,\N,Likely benign,\N,missense_variant,0.057,0.001,1KG_SAS_AF,BSND
8759,1:55474040:G>A,NM_057176.2:c.702G>A,NP_476517.1:p.Pro234=,4/4,\N,Unknown significance,\N,synonymous_variant,8.564,0.0029,1KG_AMR_AF,BSND
8760,1:55474041:C>T,NM_057176.2:c.703C>T,NP_476517.1:p.Leu235=,4/4,\N,Unknown significance,\N,synonymous_variant,8.352,\N,\N,BSND
8761,1:55474045:A>T,NM_057176.2:c.707A>T,NP_476517.1:p.Asp236Val,4/4,\N,Unknown significance,\N,missense_variant,24.6,0.00011558,EXAC_EAS_AF,BSND
8762,1:55474047:C>G,NM_057176.2:c.709C>G,NP_476517.1:p.Arg237Gly,4/4,\N,Likely benign,\N,missense_variant,8.351,0.000226963,EVS_AA_AF,BSND
8763,1:55474047:C>T,NM_057176.2:c.709C>T,NP_476517.1:p.Arg237Cys,4/4,\N,Likely benign,\N,missense_variant,23.4,0.000242512,EXAC_SAS_AF,BSND
8764,1:55474048:G>A,NM_057176.2:c.710G>A,NP_476517.1:p.Arg237His,4/4,\N,Likely benign,\N,missense_variant,7.83,0.000303104,EXAC_SAS_AF,BSND
8765,1:55474051:T>A,NM_057176.2:c.713T>A,NP_476517.1:p.Phe238Tyr,4/4,\N,Likely benign,\N,missense_variant,5.241,0.0000150087,EXAC_NFE_AF,BSND
8766,1:55474053:C>T,NM_057176.2:c.715C>T,NP_476517.1:p.Gln239Ter,4/4,\N,Unknown significance,\N,stop_gained,33,0.00226963,EVS_AA_AF,BSND
8767,1:55474059:T>C,NM_057176.2:c.721T>C,NP_476517.1:p.Phe241Leu,4/4,\N,Unknown significance,\N,missense_variant,23.6,0.000015011,EXAC_NFE_AF,BSND
8768,1:55474064:C>T,NM_057176.2:c.726C>T,NP_476517.1:p.Ala242=,4/4,\N,Unknown significance,\N,synonymous_variant,16.95,0.000115714,EXAC_EAS_AF,BSND
8769,1:55474065:C>T,NM_057176.2:c.727C>T,NP_476517.1:p.Leu243=,4/4,\N,Unknown significance,\N,synonymous_variant,13.52,0.000226963,EVS_AA_AF,BSND
8770,1:55474067:G>A,NM_057176.2:c.729G>A,NP_476517.1:p.Leu243=,4/4,\N,Unknown significance,\N,synonymous_variant,9.746,0.000151653,EXAC_FIN_AF,BSND
8771,1:55474068:A>G,NM_057176.2:c.730A>G,NP_476517.1:p.Ile244Val,4/4,\N,Unknown significance,\N,missense_variant,24.6,0.000181862,EXAC_SAS_AF,BSND
8772,1:55474069:T>A,NM_057176.2:c.731T>A,NP_476517.1:p.Ile244Asn,4/4,\N,Unknown significance,\N,missense_variant,28.1,0.000453926,EVS_AA_AF,BSND
8773,1:55474076:C>T,NM_057176.2:c.738C>T,NP_476517.1:p.Ala246=,4/4,\N,Unknown significance,\N,synonymous_variant,11.62,0.000192976,EXAC_AFR_AF,BSND
8774,1:55474081:C>T,NM_057176.2:c.743C>T,NP_476517.1:p.Thr248Met,4/4,\N,Likely benign,\N,missense_variant,16.2,0.0000150272,EXAC_NFE_AF,BSND
8775,1:55474082:G>A,NM_057176.2:c.744G>A,NP_476517.1:p.Thr248=,4/4,\N,Unknown significance,\N,synonymous_variant,6.165,0.0000606134,EXAC_SAS_AF,BSND
8776,1:55474086:G>A,NM_057176.2:c.748G>A,NP_476517.1:p.Glu250Lys,4/4,\N,Likely benign,\N,missense_variant,23.5,0.000115902,EXAC_EAS_AF,BSND
8777,1:55474101:G>C,NM_057176.2:c.763G>C,NP_476517.1:p.Glu255Gln,4/4,\N,Likely benign,\N,missense_variant,1.904,0.00136178,EVS_AA_AF,BSND
8778,1:55474104:G>A,NM_057176.2:c.766G>A,NP_476517.1:p.Gly256Arg,4/4,\N,Unknown significance,\N,missense_variant,18.27,0.000226963,EVS_AA_AF,BSND
8779,1:55474105:G>T,NM_057176.2:c.767G>T,NP_476517.1:p.Gly256Val,4/4,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,BSND
8780,1:55474108:A>G,NM_057176.2:c.770A>G,NP_476517.1:p.Gln257Arg,4/4,\N,Unknown significance,\N,missense_variant,17.91,0.0014,1KG_AMR_AF,BSND
8781,1:55474112:G>C,NM_057176.2:c.774G>C,NP_476517.1:p.Gln258His,4/4,\N,Likely benign,\N,missense_variant,16.62,0.0000606428,EXAC_SAS_AF,BSND
8782,1:55474125:C>T,NM_057176.2:c.787C>T,NP_476517.1:p.Leu263=,4/4,\N,Unknown significance,\N,synonymous_variant,10.34,0.0000150825,EXAC_NFE_AF,BSND
8783,1:55474126:T>G,NM_057176.2:c.788T>G,NP_476517.1:p.Leu263Arg,4/4,\N,Unknown significance,\N,missense_variant,19.89,0.0000150725,EXAC_NFE_AF,BSND
8784,1:55474129:C>T,NM_057176.2:c.791C>T,NP_476517.1:p.Pro264Leu,4/4,\N,Likely benign,\N,missense_variant,16.22,0.0000150807,EXAC_NFE_AF,BSND
8785,1:55474133:C>T,NM_057176.2:c.795C>T,NP_476517.1:p.Asn265=,4/4,\N,Unknown significance,\N,synonymous_variant,7.888,0.000116577,EXAC_EAS_AF,BSND
8786,1:55474136:C>T,NM_057176.2:c.798C>T,NP_476517.1:p.Asn266=,4/4,\N,Unknown significance,\N,synonymous_variant,6.305,0.0014,1KG_AMR_AF,BSND
8787,1:55474143:C>T,NM_057176.2:c.805C>T,NP_476517.1:p.Arg269Trp,4/4,\N,Likely benign,\N,missense_variant,11.95,0.000232558,EVS_EA_AF,BSND
8788,1:55474144:G>A,NM_057176.2:c.806G>A,NP_476517.1:p.Arg269Gln,4/4,\N,Likely benign,\N,missense_variant,0.005,0.00017343,EXAC_AMR_AF,BSND
8789,1:55474154:G>A,NM_057176.2:c.816G>A,NP_476517.1:p.Arg272=,4/4,\N,Unknown significance,\N,synonymous_variant,8.391,0.0000150571,EXAC_NFE_AF,BSND
8790,1:55474159:A>C,NM_057176.2:c.821A>C,NP_476517.1:p.Lys274Thr,4/4,\N,Likely benign,\N,missense_variant,21.2,0.0008,1KG_AFR_AF,BSND
8791,1:55474163:G>A,NM_057176.2:c.825G>A,NP_476517.1:p.Val275=,4/4,\N,Unknown significance,\N,synonymous_variant,6.516,0.00030303,EXAC_SAS_AF,BSND
8792,1:55474164:G>A,NM_057176.2:c.826G>A,NP_476517.1:p.Glu276Lys,4/4,\N,Likely benign,\N,missense_variant,15.43,0.000226963,EVS_AA_AF,BSND
8793,1:55474169:G>A,NM_057176.2:c.831G>A,NP_476517.1:p.Glu277=,4/4,\N,Unknown significance,\N,synonymous_variant,6.28,0.0008,1KG_AFR_AF,BSND
8794,1:55474170:A>C,NM_057176.2:c.832A>C,NP_476517.1:p.Lys278Gln,4/4,\N,Likely benign,\N,missense_variant,0.027,0.00017328,EXAC_AMR_AF,BSND
8795,1:55474180:C>T,NM_057176.2:c.842C>T,NP_476517.1:p.Ser281Leu,4/4,\N,Likely benign,\N,missense_variant,2.44,0.000809998,EXAC_EAS_AF,BSND
8796,1:55474181:G>A,NM_057176.2:c.843G>A,NP_476517.1:p.Ser281=,4/4,\N,Unknown significance,\N,synonymous_variant,7.502,0.0008,1KG_AFR_AF,BSND
8797,1:55474185:A>G,NM_057176.2:c.847A>G,NP_476517.1:p.Thr283Ala,4/4,\N,Likely benign,\N,missense_variant,0.001,0.0000962464,EXAC_AFR_AF,BSND
8798,1:55474189:G>A,NM_057176.2:c.851G>A,NP_476517.1:p.Gly284Asp,4/4,\N,Likely benign,\N,missense_variant,5.92,0.00211742,EXAC_AFR_AF,BSND
8799,1:55474197:G>C,NM_057176.2:c.859G>C,NP_476517.1:p.Glu287Gln,4/4,\N,Unknown significance,\N,missense_variant,10.85,0.0000864304,EXAC_AMR_AF,BSND
8800,1:55474197:G>T,NM_057176.2:c.859G>T,NP_476517.1:p.Glu287Ter,4/4,\N,Unknown significance,\N,stop_gained,37,0.000116279,EVS_EA_AF,BSND
8801,1:55474210:A>G,NM_057176.2:c.872A>G,NP_476517.1:p.Glu291Gly,4/4,\N,Unknown significance,\N,missense_variant,25.3,0.0015,1KG_AFR_AF,BSND
8802,1:55474212:G>A,NM_057176.2:c.874G>A,NP_476517.1:p.Glu292Lys,4/4,\N,Unknown significance,\N,missense_variant,28.7,0.0000299832,EXAC_NFE_AF,BSND
8803,1:55474215:G>A,NM_057176.2:c.877G>A,NP_476517.1:p.Glu293Lys,4/4,\N,Unknown significance,\N,missense_variant,25.6,0.001,1KG_SAS_AF,BSND
8804,1:55474221:C>A,NM_057176.2:c.883C>A,NP_476517.1:p.Leu295Met,4/4,\N,Unknown significance,\N,missense_variant,23.3,0.0000864155,EXAC_AMR_AF,BSND
8805,1:55474221:C>T,NM_057176.2:c.883C>T,NP_476517.1:p.Leu295=,4/4,\N,Unknown significance,\N,synonymous_variant,11.58,0.0000864155,EXAC_AMR_AF,BSND
8806,1:55474231:G>A,NM_057176.2:c.893G>A,NP_476517.1:p.Gly298Glu,4/4,\N,Benign*,\N,missense_variant,28.4,0.005,1KG_EAS_AF,BSND
8807,1:55474232:G>A,NM_057176.2:c.894G>A,NP_476517.1:p.Gly298=,4/4,\N,Unknown significance,\N,synonymous_variant,11.78,0.000151194,EXAC_FIN_AF,BSND
8808,1:55474239:G>C,NM_057176.2:c.901G>C,NP_476517.1:p.Asp301His,4/4,\N,Unknown significance,\N,missense_variant,26.2,0.000115714,EXAC_EAS_AF,BSND
8809,1:55474245:G>T,NM_057176.2:c.907G>T,NP_476517.1:p.Ala303Ser,4/4,\N,Likely benign,\N,missense_variant,12.15,0.0000966744,EXAC_AFR_AF,BSND
8810,1:55474247:C>T,NM_057176.2:c.909C>T,NP_476517.1:p.Ala303=,4/4,\N,Unknown significance,\N,synonymous_variant,12.32,0.000242748,EXAC_SAS_AF,BSND
8811,1:55474248:G>A,NM_057176.2:c.910G>A,NP_476517.1:p.Gly304Arg,4/4,\N,Unknown significance,\N,missense_variant,27,0.000231428,EXAC_EAS_AF,BSND
8812,1:55474255:T>C,NM_057176.2:c.917T>C,NP_476517.1:p.Leu306Pro,4/4,\N,Likely benign,\N,missense_variant,9.507,0.00045087,EXAC_NFE_AF,BSND
8813,1:55474257:C>T,NM_057176.2:c.919C>T,NP_476517.1:p.Leu307Phe,4/4,\N,Unknown significance,\N,missense_variant,21,0.001,1KG_EAS_AF,BSND
8814,1:55474259:C>T,NM_057176.2:c.921C>T,NP_476517.1:p.Leu307=,4/4,\N,Unknown significance,\N,synonymous_variant,10.8,0.00015124,EXAC_FIN_AF,BSND
8815,1:55474261:C>T,NM_057176.2:c.923C>T,NP_476517.1:p.Pro308Leu,4/4,\N,Likely benign,\N,missense_variant,23.3,0.0015,1KG_AFR_AF,BSND
8816,1:55474262:G>A,NM_057176.2:c.924G>A,NP_476517.1:p.Pro308=,4/4,\N,Benign,\N,synonymous_variant,7.991,0.211,1KG_AFR_AF,BSND
8817,1:55474265:C>G,NM_057176.2:c.927C>G,NP_476517.1:p.Asp309Glu,4/4,\N,Unknown significance,\N,missense_variant,22.7,0.0000150707,EXAC_NFE_AF,BSND
8818,1:55474276:G>GT,NM_057176.2:c.942dup,NP_476517.1:p.Glu315Ter,4/4,\N,Unknown significance,\N,frameshift_variant,27.2,0.0000150852,EXAC_NFE_AF,BSND
8819,1:55474283:G>C,NM_057176.2:c.945G>C,NP_476517.1:p.Glu315Asp,4/4,\N,Unknown significance,\N,missense_variant,24.1,0.0000868659,EXAC_AMR_AF,BSND
8820,1:55474305:G>A,NM_057176.2:c.*4G>A,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,5.713,0.0023,1KG_AFR_AF,BSND
8821,1:55474307:T>C,NM_057176.2:c.*6T>C,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,3.694,0.00223714,EXAC_OTH_AF,BSND
8822,1:55474315:C>T,NM_057176.2:c.*14C>T,\N,4/4,\N,Likely benign,\N,3_prime_UTR_variant,6.54,0.0024966,EVS_AA_AF,BSND
8823,1:55474316:G>A,NM_057176.2:c.*15G>A,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,2.335,0.00011609,EXAC_EAS_AF,BSND
8824,1:55474325:A>C,NM_057176.2:c.*24A>C,\N,4/4,\N,Benign,\N,3_prime_UTR_variant,1.115,0.5242,1KG_AFR_AF,BSND
8825,1:55474325:A>T,NM_057176.2:c.*24A>T,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,2.137,0.0000453995,EXAC_NFE_AF,BSND
8826,1:55474335:T>G,NM_057176.2:c.*34T>G,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,4.353,0.0000151648,EXAC_NFE_AF,BSND
8827,1:55474336:G>T,NM_057176.2:c.*35G>T,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,1.126,\N,\N,BSND
8828,1:55474337:CT>C,NM_057176.2:c.*37del,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,6.224,0.0000455097,EXAC_NFE_AF,BSND
8829,1:55474339:G>A,NM_057176.2:c.*38G>A,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,6.356,0.00011636,EXAC_EAS_AF,BSND
8830,1:55474340:C>T,NM_057176.2:c.*39C>T,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,6.887,0.0000151699,EXAC_NFE_AF,BSND
8831,1:55474341:T>C,NM_057176.2:c.*40T>C,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,5.435,0.000116279,EVS_EA_AF,BSND
8832,1:55474344:C>A,NM_057176.2:c.*43C>A,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,7.046,0.0001,EXAC_AFR_AF,BSND
8833,1:55474345:C>T,NM_057176.2:c.*44C>T,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,6.691,0.0000609607,EXAC_SAS_AF,BSND
8834,1:55474346:C>T,NM_057176.2:c.*45C>T,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,5.643,\N,\N,BSND
8835,1:55474347:C>G,NM_057176.2:c.*46C>G,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,3.907,0.000116387,EXAC_EAS_AF,BSND
8836,1:55474350:T>C,NM_057176.2:c.*49T>C,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,3.458,0.000045518,EXAC_NFE_AF,BSND
8837,1:55474359:A>G,NM_057176.2:c.*58A>G,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,6.319,0.0031,1KG_SAS_AF,BSND
8838,1:55474390:G>T,NM_057176.2:c.*89G>T,\N,4/4,\N,Benign,\N,3_prime_UTR_variant,12.19,0.0113,1KG_AFR_AF,BSND
8839,1:55474395:A>G,NM_057176.2:c.*94A>G,\N,4/4,\N,Benign,\N,3_prime_UTR_variant,9.563,0.0877,1KG_AFR_AF,BSND
8840,1:55474460:T>G,NM_057176.2:c.*159T>G,\N,4/4,\N,Unknown significance,\N,3_prime_UTR_variant,4.876,\N,\N,BSN