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
426433,2:26680075:T>C,NM_194248.2:c.*1031A>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,9.872,\N,\N,OTOF
426434,2:26680114:G>A,NM_194248.2:c.*992C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,13.08,0.002,1KG_EAS_AF,OTOF
426435,2:26680137:A>C,NM_194248.2:c.*969T>G,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,8.329,0.005,OTO_TR_AF,OTOF
426436,2:26680146:C>G,NM_194248.2:c.*960G>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,6.728,\N,\N,OTOF
426437,2:26680154:G>A,NM_194248.2:c.*952C>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,10.16,0.0058,1KG_AMR_AF,OTOF
426438,2:26680170:C>T,NM_194248.2:c.*936G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.57,0.001,1KG_EAS_AF,OTOF
426439,2:26680207:A>AG,NM_194248.2:c.*898dup,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,0.203,0.1679,1KG_AFR_AF,OTOF
426440,2:26680216:G>C,NM_194248.2:c.*890C>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.84,\N,\N,OTOF
426441,2:26680219:T>G,NM_194248.2:c.*887A>C,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.358,0.0125,OTO_AJ_AF,OTOF
426442,2:26680223:A>G,NM_194248.2:c.*883T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.028,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426443,2:26680232:T>G,NM_194248.2:c.*874A>C,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.841,0.005,OTO_TR_AF,OTOF
426444,2:26680239:G>A,NM_194248.2:c.*867C>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,2.59,0.0082,1KG_SAS_AF,OTOF
426445,2:26680293:C>T,NM_194248.2:c.*813G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,6.445,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426446,2:26680294:G>A,NM_194248.2:c.*812C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.858,0.001,1KG_EAS_AF,OTOF
426447,2:26680352:A>C,NM_194248.2:c.*754T>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.317,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426448,2:26680365:T>G,NM_194248.2:c.*741A>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.217,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426449,2:26680380:G>A,NM_194248.2:c.*726C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.306,0.001,1KG_SAS_AF,OTOF
426450,2:26680398:A>C,NM_194248.2:c.*708T>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.012,\N,\N,OTOF
426451,2:26680406:G>A,NM_194248.2:c.*700C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.727,\N,\N,OTOF
426452,2:26680409:C>T,NM_194248.2:c.*697G>A,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,3.382,0.1664,1KG_AFR_AF,OTOF
426453,2:26680409:CT>TC,NM_194248.2:c.*696_*697delinsGA,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,OTOF
426454,2:26680410:T>C,NM_194248.2:c.*696A>G,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,0.706,0.1664,1KG_AFR_AF,OTOF
426455,2:26680431:G>A,NM_194248.2:c.*675C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.038,0.0015,1KG_AFR_AF,OTOF
426456,2:26680454:C>G,NM_194248.2:c.*652G>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.807,\N,\N,OTOF
426457,2:26680454:C>T,NM_194248.2:c.*652G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.965,\N,\N,OTOF
426458,2:26680456:G>T,NM_194248.2:c.*650C>A,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.757,0.112,1KG_AFR_AF,OTOF
426459,2:26680472:T>G,NM_194248.2:c.*634A>C,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.537,0.005,OTO_TR_AF,OTOF
426460,2:26680483:A>G,NM_194248.2:c.*623T>C,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,2.912,0.145,OTO_TR_AF,OTOF
426461,2:26680484:T>G,NM_194248.2:c.*622A>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.732,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426462,2:26680492:G>T,NM_194248.2:c.*614C>A,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.087,0.01,OTO_TR_AF,OTOF
426463,2:26680495:C>T,NM_194248.2:c.*611G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,7.093,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
426464,2:26680496:G>A,NM_194248.2:c.*610C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.838,\N,\N,OTOF
426465,2:26680503:C>T,NM_194248.2:c.*603G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.163,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426466,2:26680509:A>T,NM_194248.2:c.*597T>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.824,0.003125,OTO_CO_AF|OTO_US_AF,OTOF
426467,2:26680543:A>G,NM_194248.2:c.*563T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.541,0.0015,1KG_AFR_AF,OTOF
426468,2:26680560:A>G,NM_194248.2:c.*546T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.363,0.0031,1KG_SAS_AF,OTOF
426469,2:26680588:T>G,NM_194248.2:c.*518A>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.897,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426470,2:26680609:G>A,NM_194248.2:c.*497C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.498,\N,\N,OTOF
426471,2:26680666:A>G,NM_194248.2:c.*440T>C,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,6.704,0.034,1KG_AFR_AF,OTOF
426472,2:26680669:T>C,NM_194248.2:c.*437A>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.858,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426473,2:26680674:A>C,NM_194248.2:c.*432T>G,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,8.178,0.02,OTO_TR_AF,OTOF
426474,2:26680678:C>G,NM_194248.2:c.*428G>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.608,0.001,1KG_EUR_AF,OTOF
426475,2:26680688:T>C,NM_194248.2:c.*418A>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.385,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426476,2:26680709:T>G,NM_194248.2:c.*397A>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.707,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426477,2:26680730:A>G,NM_194248.2:c.*376T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.835,0.001,1KG_EAS_AF,OTOF
426478,2:26680733:C>T,NM_194248.2:c.*373G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.058,\N,\N,OTOF
426479,2:26680734:G>A,NM_194248.2:c.*372C>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,4.502,0.146,1KG_AFR_AF,OTOF
426480,2:26680741:G>A,NM_194248.2:c.*365C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.802,0.001,1KG_EUR_AF,OTOF
426481,2:26680758:C>A,NM_194248.2:c.*348G>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,3.456,0.0182,1KG_AFR_AF,OTOF
426482,2:26680759:G>C,NM_194248.2:c.*347C>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.064,0.0014,1KG_AMR_AF,OTOF
426483,2:26680764:C>T,NM_194248.2:c.*342G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,7.972,0.001,1KG_SAS_AF,OTOF
426484,2:26680765:C>T,NM_194248.2:c.*341G>A,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,2.967,0.00625,OTO_CO_AF,OTOF
426485,2:26680766:G>A,NM_194248.2:c.*340C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.772,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426486,2:26680767:C>A,NM_194248.2:c.*339G>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.221,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426487,2:26680774:G>A,NM_194248.2:c.*332C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,7.691,0.001,1KG_SAS_AF,OTOF
426488,2:26680800:G>T,NM_194248.2:c.*306C>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.999,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426489,2:26680803:T>G,NM_194248.2:c.*303A>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.968,0.003125,OTO_US_AF,OTOF
426490,2:26680807:C>T,NM_194248.2:c.*299G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.343,0.001,1KG_EAS_AF,OTOF
426491,2:26680820:A>G,NM_194248.2:c.*286T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.818,0.001,1KG_EAS_AF,OTOF
426492,2:26680824:T>C,NM_194248.2:c.*282A>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.085,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426493,2:26680825:C>T,NM_194248.2:c.*281G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.783,\N,\N,OTOF
426494,2:26680829:A>C,NM_194248.2:c.*277T>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.994,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426495,2:26680834:A>G,NM_194248.2:c.*272T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.04,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426496,2:26680840:G>A,NM_194248.2:c.*266C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.832,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426497,2:26680847:T>C,NM_194248.2:c.*259A>G,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.556,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426498,2:26680849:C>A,NM_194248.2:c.*257G>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,5.945,0.005,OTO_TR_AF,OTOF
426499,2:26680858:G>GA,NM_194248.2:c.*247dup,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,OTOF
426500,2:26680859:A>G,NM_194248.2:c.*247T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.188,0.0000154183,EXAC_NFE_AF,OTOF
426501,2:26680869:C>T,NM_194248.2:c.*237G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.581,0.00241352,EXAC_SAS_AF,OTOF
426502,2:26680870:G>A,NM_194248.2:c.*236C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,2.376,0.0000789266,EXAC_SAS_AF,OTOF
426503,2:26680872:C>T,NM_194248.2:c.*234G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.6,0.0000989511,EXAC_AFR_AF,OTOF
426504,2:26680875:G>A,NM_194248.2:c.*231C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.436,0.000115902,EXAC_EAS_AF,OTOF
426505,2:26680879:G>A,NM_194248.2:c.*227C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.457,0.0000767106,EXAC_SAS_AF,OTOF
426506,2:26680885:C>T,NM_194248.2:c.*221G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.385,0.0000759994,EXAC_SAS_AF,OTOF
426507,2:26680886:G>A,NM_194248.2:c.*220C>T,\N,47/47,\N,Benign,\N,3_prime_UTR_variant,1.535,0.0111262,EVS_AA_AF,OTOF
426508,2:26680892:C>G,NM_194248.2:c.*214G>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,0.789,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426509,2:26680892:C>T,NM_194248.2:c.*214G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,1.663,\N,\N,OTOF
426510,2:26680893:G>A,NM_194248.2:c.*213C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,3.849,0.000173671,EXAC_AMR_AF,OTOF
426511,2:26680894:G>A,NM_194248.2:c.*212C>T,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.603,0.0000866401,EXAC_AMR_AF,OTOF
426512,2:26680896:A>G,NM_194248.2:c.*210T>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.464,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426513,2:26680902:C>T,NM_194248.2:c.*204G>A,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,5.964,0.00115207,EXAC_OTH_AF,OTOF
426514,2:26680902:C>G,NM_194248.2:c.*204G>C,\N,47/47,\N,Unknown significance,\N,3_prime_UTR_variant,4.37,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426515,2:26680918:A>G,NM_194323.2:c.3683T>C,NP_919304.1:p.Leu1228Pro,29/29,\N,Unknown significance,\N,missense_variant,19.54,0.0008,1KG_AFR_AF,OTOF
426516,2:26680923:C>G,NM_001287489.1:c.5979G>C,NP_001274418.1:p.Lys1993Asn,46/46,\N,Unknown significance,\N,missense_variant,21.9,\N,\N,OTOF
426517,2:26680927:T>C,NM_001287489.1:c.5975A>G,NP_001274418.1:p.Lys1992Arg,46/46,\N,Unknown significance,\N,missense_variant,21.6,0.000693802,EXAC_EAS_AF,OTOF
426518,2:26680931:C>T,NM_001287489.1:c.5971G>A,NP_001274418.1:p.Val1991Ile,46/46,\N,Unknown significance,\N,missense_variant,22.8,0.0000864304,EXAC_AMR_AF,OTOF
426519,2:26680934:T>C,NM_194323.2:c.3667A>G,NP_919304.1:p.Met1223Val,29/29,\N,Unknown significance,\N,missense_variant,21.3,0.0000601522,EXAC_NFE_AF,OTOF
426520,2:26680942:G>C,NM_001287489.1:c.5960C>G,NP_001274418.1:p.Pro1987Arg,46/46,\N,Pathogenic,Auditory neuropathy| autosomal recessive| 1; AUDITORY NEUROPATHY| AUTOSOMAL RECESSIVE| 1,missense_variant,21.6,\N,\N,OTOF
426521,2:26680961:G>C,NM_001287489.1:c.5941C>G,NP_001274418.1:p.Leu1981Val,46/46,\N,Unknown significance,\N,missense_variant,20.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426522,2:26680976:GC>G,NM_001287489.1:c.5925del,NP_001274418.1:p.Leu1976CysfsTer89,46/46,\N,Likely pathogenic,Deafness| autosomal recessive 9,frameshift_variant,21.4,0.0000150471,EXAC_NFE_AF,OTOF
426523,2:26680980:C>T,NM_001287489.1:c.5922G>A,NP_001274418.1:p.Leu1974=,46/46,\N,Benign,\N,synonymous_variant,22.3,0.0265,1KG_AFR_AF,OTOF
426524,2:26680983:C>T,NM_001287489.1:c.5919G>A,NP_001274418.1:p.Leu1973=,46/46,\N,Unknown significance,\N,synonymous_variant,22.5,0.0000150698,EXAC_NFE_AF,OTOF
426525,2:26680986:C>T,NM_001287489.1:c.5916G>A,NP_001274418.1:p.Ala1972=,46/46,\N,Unknown significance,\N,synonymous_variant,20.6,0.001,1KG_EAS_AF,OTOF
426526,2:26680987:G>A,NM_001287489.1:c.5915C>T,NP_001274418.1:p.Ala1972Val,46/46,\N,Unknown significance,\N,missense_variant,22.7,0.0000869263,EXAC_AMR_AF,OTOF
426527,2:26680991:G>A,NM_001287489.1:c.5911C>T,NP_001274418.1:p.Leu1971=,46/46,\N,Unknown significance,\N,synonymous_variant,21.2,0.0014,1KG_AMR_AF,OTOF
426528,2:26680994:C>T,NM_001287489.1:c.5908G>A,NP_001274418.1:p.Val1970Met,46/46,\N,Unknown significance,\N,missense_variant,22.8,0.00112613,EXAC_OTH_AF,OTOF
426529,2:26680995:G>A,NM_001287489.1:c.5907C>T,NP_001274418.1:p.Ile1969=,46/46,\N,Unknown significance,\N,synonymous_variant,19.02,0.0000873515,EXAC_AMR_AF,OTOF
426530,2:26681001:G>A,NM_001287489.1:c.5901C>T,NP_001274418.1:p.Ile1967=,46/46,\N,Unknown significance,\N,synonymous_variant,21.7,0.00277778,OTO_ES_AF,OTOF
426531,2:26681009:G>A,NM_001287489.1:c.5893C>T,NP_001274418.1:p.Leu1965Phe,46/46,\N,Unknown significance,\N,missense_variant,22.3,0.0000616143,EXAC_SAS_AF,OTOF
426532,2:26681015:T>C,NM_001287489.1:c.5887A>G,NP_001274418.1:p.Lys1963Glu,46/46,\N,Unknown significance,\N,missense_variant,22.1,0.0008,1KG_AFR_AF,OTOF
426533,2:26681030:T>C,NM_001287489.1:c.5872A>G,NP_001274418.1:p.Ile1958Val,46/46,\N,Unknown significance,\N,missense_variant,22,0.0008,1KG_AFR_AF,OTOF
426534,2:26681038:TTGA>T,NM_001287489.1:c.5861_5863del,NP_001274418.1:p.Ile1954del,46/46,\N,Unknown significance,\N,inframe_deletion,22.7,0.0000359699,EXAC_NFE_AF,OTOF
426535,2:26681038:T>C,NM_001287489.1:c.5864A>G,NP_001274418.1:p.Lys1955Arg,46/46,\N,Unknown significance,\N,missense_variant,21,0.000570516,EXAC_AFR_AF,OTOF
426536,2:26681046:C>T,NM_001287489.1:c.5856G>A,NP_001274418.1:p.Lys1952=,46/46,\N,Unknown significance,\N,synonymous_variant,21.9,0.000280308,EXAC_SAS_AF,OTOF
426537,2:26681048:TGAG>T,NM_001287489.1:c.5851_5853del,NP_001274418.1:p.Leu1951del,46/46,\N,Unknown significance,\N,inframe_deletion,22.6,\N,\N,OTOF
426538,2:26681069:C>T,NM_001287489.1:c.5833G>A,NP_001274418.1:p.Val1945Ile,46/46,\N,Likely benign,\N,missense_variant,21.9,0.00022779,EXAC_EAS_AF,OTOF
426539,2:26681070:G>A,NM_001287489.1:c.5832C>T,NP_001274418.1:p.Phe1944=,46/46,\N,Unknown significance,\N,synonymous_variant,18.27,0.0008,1KG_AFR_AF,OTOF
426540,2:26681076:C>T,NM_001287489.1:c.5826G>A,NP_001274418.1:p.Thr1942=,46/46,\N,Unknown significance,\N,synonymous_variant,16.97,0.0000367512,EXAC_NFE_AF,OTOF
426541,2:26681077:G>A,NM_001287489.1:c.5825C>T,NP_001274418.1:p.Thr1942Met,46/46,\N,Unknown significance,\N,missense_variant,22.1,0.0000934754,EXAC_SAS_AF,OTOF
426542,2:26681082:G>A,NM_001287489.1:c.5820C>T,NP_001274418.1:p.Pro1940=,46/46,\N,Unknown significance,\N,synonymous_variant,15.24,0.0000469704,EXAC_NFE_AF,OTOF
426543,2:26681085:C>A,NM_001287489.1:c.5817G>T,NP_001274418.1:p.Arg1939=,46/46,\N,Unknown significance,\N,synonymous_variant,20.1,0.00023359,EVS_EA_AF,OTOF
426544,2:26681086:C>T,NM_001287489.1:c.5816G>A,NP_001274418.1:p.Arg1939Gln,46/46,\N,Unknown significance,\N,missense_variant&splice_region_variant,19.42,0.001,1KG_EAS_AF,OTOF
426545,2:26681087:G>A,NM_001287489.1:c.5815C>T,NP_001274418.1:p.Arg1939Trp,46/46,\N,Unknown significance,\N,missense_variant&splice_region_variant,17.27,0.001,1KG_SAS_AF,OTOF
426546,2:26681094:A>G,NM_194248.2:c.*18-6T>C,\N,\N,46/46,Unknown significance,\N,splice_region_variant&intron_variant,2.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426547,2:26681097:T>G,NM_194248.2:c.*18-9A>C,\N,\N,46/46,Unknown significance,\N,intron_variant,0.851,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426548,2:26681112:G>A,NM_194248.2:c.*18-24C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,2.29,\N,\N,OTOF
426549,2:26681118:C>T,NM_194248.2:c.*18-30G>A,\N,\N,46/46,Benign,\N,intron_variant,5.342,0.0787,1KG_AFR_AF,OTOF
426550,2:26681123:G>A,NM_194248.2:c.*18-35C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,7.233,0.0008,1KG_AFR_AF,OTOF
426551,2:26681126:C>T,NM_194248.2:c.*18-38G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,9.049,0.000120395,EVS_EA_AF,OTOF
426552,2:26681127:A>G,NM_194248.2:c.*18-39T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,5.42,\N,\N,OTOF
426553,2:26681129:G>A,NM_194248.2:c.*18-41C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,6.77,0.000103691,EXAC_NFE_AF,OTOF
426554,2:26681130:A>G,NM_194248.2:c.*18-42T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,8.581,\N,\N,OTOF
426555,2:26681224:G>C,NM_194248.2:c.*18-136C>G,\N,\N,46/46,Unknown significance,\N,intron_variant,1.604,0.001,1KG_EUR_AF,OTOF
426556,2:26681249:G>A,NM_194248.2:c.*18-161C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,5.399,\N,\N,OTOF
426557,2:26681287:C>T,NM_194248.2:c.*18-199G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,5.211,\N,\N,OTOF
426558,2:26681307:C>T,NM_194248.2:c.*18-219G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,6.517,0.0023,1KG_AFR_AF,OTOF
426559,2:26681351:G>T,NM_194248.2:c.*18-263C>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.147,0.0015,1KG_AFR_AF,OTOF
426560,2:26681352:C>A,NM_194248.2:c.*18-264G>T,\N,\N,46/46,Unknown significance,\N,intron_variant,5.264,0.001,1KG_SAS_AF,OTOF
426561,2:26681387:C>T,NM_194248.2:c.*18-299G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,1.046,0.0008,1KG_AFR_AF,OTOF
426562,2:26681396:C>T,NM_194248.2:c.*18-308G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.162,0.001,1KG_EAS_AF,OTOF
426563,2:26681410:C>T,NM_194248.2:c.*18-322G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,5.484,\N,\N,OTOF
426564,2:26681468:T>C,NM_194248.2:c.*18-380A>G,\N,\N,46/46,Benign,\N,intron_variant,1.096,0.0204,1KG_AFR_AF,OTOF
426565,2:26681481:C>T,NM_194248.2:c.*18-393G>A,\N,\N,46/46,Benign,\N,intron_variant,0.186,0.149,1KG_AFR_AF,OTOF
426566,2:26681482:G>A,NM_194248.2:c.*18-394C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.169,0.001,1KG_SAS_AF,OTOF
426567,2:26681498:C>G,NM_194248.2:c.*18-410G>C,\N,\N,46/46,Unknown significance,\N,intron_variant,5.857,0.001,1KG_SAS_AF,OTOF
426568,2:26681503:C>A,NM_194248.2:c.*18-415G>T,\N,\N,46/46,Unknown significance,\N,intron_variant,6.89,\N,\N,OTOF
426569,2:26681521:A>G,NM_194248.2:c.*18-433T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,0.485,0.001,1KG_EUR_AF,OTOF
426570,2:26681549:A>G,NM_194248.2:c.*18-461T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,3.217,\N,\N,OTOF
426571,2:26681575:T>C,NM_194248.2:c.*18-487A>G,\N,\N,46/46,Benign,\N,intron_variant,1.424,0.0204,1KG_AFR_AF,OTOF
426572,2:26681577:G>A,NM_194248.2:c.*18-489C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.951,0.0008,1KG_AFR_AF,OTOF
426573,2:26681589:C>T,NM_194248.2:c.*18-501G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,1.061,0.001,1KG_EAS_AF,OTOF
426574,2:26681633:A>G,NM_194248.2:c.*18-545T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,7.754,0.001,1KG_EAS_AF,OTOF
426575,2:26681680:A>G,NM_194248.2:c.*18-592T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,3.618,\N,\N,OTOF
426576,2:26681681:T>C,NM_194248.2:c.*18-593A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,2.711,0.001,1KG_SAS_AF,OTOF
426577,2:26681718:C>T,NM_194248.2:c.*18-630G>A,\N,\N,46/46,Benign,\N,intron_variant,0.686,0.0182,1KG_AFR_AF,OTOF
426578,2:26681763:C>T,NM_194248.2:c.*18-675G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,0.012,\N,\N,OTOF
426579,2:26681774:T>C,NM_194248.2:c.*18-686A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,1.601,\N,\N,OTOF
426580,2:26681781:C>T,NM_194248.2:c.*18-693G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,2.555,\N,\N,OTOF
426581,2:26681795:T>G,NM_194248.2:c.*18-707A>C,\N,\N,46/46,Unknown significance,\N,intron_variant,4.385,\N,\N,OTOF
426582,2:26681796:G>A,NM_194248.2:c.*18-708C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,2.983,\N,\N,OTOF
426583,2:26681862:A>G,NM_194248.2:c.*18-774T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,5.292,0.004,1KG_EAS_AF,OTOF
426584,2:26681871:T>C,NM_194248.2:c.*18-783A>G,\N,\N,46/46,Benign,\N,intron_variant,5.336,0.0197,1KG_AFR_AF,OTOF
426585,2:26681872:A>C,NM_194248.2:c.*18-784T>G,\N,\N,46/46,Unknown significance,\N,intron_variant,7.024,0.001,1KG_SAS_AF,OTOF
426586,2:26681873:C>T,NM_194248.2:c.*18-785G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,7.742,\N,\N,OTOF
426587,2:26681887:C>T,NM_194248.2:c.*18-799G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,2.966,\N,\N,OTOF
426588,2:26681952:G>A,NM_194248.2:c.*18-864C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,6.511,0.001,1KG_EUR_AF,OTOF
426589,2:26682014:C>T,NM_194248.2:c.*17+862G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.211,0.001,1KG_SAS_AF,OTOF
426590,2:26682043:G>T,NM_194248.2:c.*17+833C>A,\N,\N,46/46,Unknown significance,\N,intron_variant,0.483,0.0008,1KG_AFR_AF,OTOF
426591,2:26682053:G>C,NM_194248.2:c.*17+823C>G,\N,\N,46/46,Benign,\N,intron_variant,1.463,0.1319,1KG_EAS_AF,OTOF
426592,2:26682055:C>T,NM_194248.2:c.*17+821G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,5.211,0.0014,1KG_AMR_AF,OTOF
426593,2:26682079:C>G,NM_194248.2:c.*17+797G>C,\N,\N,46/46,Benign,\N,intron_variant,5.565,0.0174,1KG_AFR_AF,OTOF
426594,2:26682102:C>T,NM_194248.2:c.*17+774G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,9.789,\N,\N,OTOF
426595,2:26682120:A>G,NM_194248.2:c.*17+756T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,8.02,0.002,1KG_SAS_AF,OTOF
426596,2:26682138:C>T,NM_194248.2:c.*17+738G>A,\N,\N,46/46,Benign,\N,intron_variant,4.712,0.0197,1KG_AFR_AF,OTOF
426597,2:26682142:T>C,NM_194248.2:c.*17+734A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,2.369,0.001,1KG_EUR_AF,OTOF
426598,2:26682146:C>T,NM_194248.2:c.*17+730G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,4.758,\N,\N,OTOF
426599,2:26682149:G>A,NM_194248.2:c.*17+727C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,4.002,\N,\N,OTOF
426600,2:26682158:C>T,NM_194248.2:c.*17+718G>A,\N,\N,46/46,Benign,\N,intron_variant,3.823,0.112,1KG_AFR_AF,OTOF
426601,2:26682173:C>T,NM_194248.2:c.*17+703G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,4.269,0.001,1KG_EUR_AF,OTOF
426602,2:26682186:C>G,NM_194248.2:c.*17+690G>C,\N,\N,46/46,Unknown significance,\N,intron_variant,3.768,0.002,1KG_SAS_AF,OTOF
426603,2:26682187:G>T,NM_194248.2:c.*17+689C>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.45,0.0008,1KG_AFR_AF,OTOF
426604,2:26682196:G>A,NM_194248.2:c.*17+680C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,4.609,0.001,1KG_EAS_AF,OTOF
426605,2:26682202:CGAG>C,NM_194248.2:c.*17+671_*17+673del,\N,\N,46/46,Benign,\N,intron_variant,5.236,0.0189,1KG_AFR_AF,OTOF
426606,2:26682233:A>G,NM_194248.2:c.*17+643T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,2.116,0.0008,1KG_AFR_AF,OTOF
426607,2:26682247:C>T,NM_194248.2:c.*17+629G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.577,0.003,1KG_AFR_AF,OTOF
426608,2:26682255:C>T,NM_194248.2:c.*17+621G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,4.142,\N,\N,OTOF
426609,2:26682263:A>G,NM_194248.2:c.*17+613T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,2.938,0.001,1KG_EUR_AF,OTOF
426610,2:26682270:A>G,NM_194248.2:c.*17+606T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,1.908,0.0014,1KG_AMR_AF,OTOF
426611,2:26682274:T>G,NM_194248.2:c.*17+602A>C,\N,\N,46/46,Benign,\N,intron_variant,2.008,0.047,1KG_SAS_AF,OTOF
426612,2:26682276:C>T,NM_194248.2:c.*17+600G>A,\N,\N,46/46,Benign,\N,intron_variant,1.906,0.047,1KG_SAS_AF,OTOF
426613,2:26682277:A>G,NM_194248.2:c.*17+599T>C,\N,\N,46/46,Benign,\N,intron_variant,1.598,0.047,1KG_SAS_AF,OTOF
426614,2:26682280:C>T,NM_194248.2:c.*17+596G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,1.502,0.0014,1KG_AMR_AF,OTOF
426615,2:26682288:C>T,NM_194248.2:c.*17+588G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,2.169,0.002,1KG_EAS_AF,OTOF
426616,2:26682299:A>G,NM_194248.2:c.*17+577T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,2.151,0.0029,1KG_AMR_AF,OTOF
426617,2:26682303:C>T,NM_194248.2:c.*17+573G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.522,0.001,1KG_SAS_AF,OTOF
426618,2:26682309:A>G,NM_194248.2:c.*17+567T>C,\N,\N,46/46,Unknown significance,\N,intron_variant,1.474,0.0008,1KG_AFR_AF,OTOF
426619,2:26682317:G>A,NM_194248.2:c.*17+559C>T,\N,\N,46/46,Benign,\N,intron_variant,1.776,0.0051,1KG_SAS_AF,OTOF
426620,2:26682336:C>T,NM_194248.2:c.*17+540G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.245,0.001,1KG_EAS_AF,OTOF
426621,2:26682337:G>A,NM_194248.2:c.*17+539C>T,\N,\N,46/46,Benign,\N,intron_variant,0.058,0.0242,1KG_AFR_AF,OTOF
426622,2:26682345:G>A,NM_194248.2:c.*17+531C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,3.603,\N,\N,OTOF
426623,2:26682389:T>C,NM_194248.2:c.*17+487A>G,\N,\N,46/46,Benign,\N,intron_variant,5.126,0.0787,1KG_AFR_AF,OTOF
426624,2:26682398:C>T,NM_194248.2:c.*17+478G>A,\N,\N,46/46,Benign,\N,intron_variant,6.035,0.034,1KG_AFR_AF,OTOF
426625,2:26682406:C>T,NM_194248.2:c.*17+470G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,3.366,\N,\N,OTOF
426626,2:26682407:G>A,NM_194248.2:c.*17+469C>T,\N,\N,46/46,Benign,\N,intron_variant,0.146,0.1596,1KG_AFR_AF,OTOF
426627,2:26682417:C>T,NM_194248.2:c.*17+459G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,0.211,0.002,1KG_SAS_AF,OTOF
426628,2:26682420:C>CA,NM_194248.2:c.*17+455dup,\N,\N,46/46,Unknown significance,\N,intron_variant,1.279,\N,\N,OTOF
426629,2:26682420:CA>C,NM_194248.2:c.*17+455del,\N,\N,46/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
426630,2:26682457:C>G,NM_194248.2:c.*17+419G>C,\N,\N,46/46,Unknown significance,\N,intron_variant,1.934,0.003,1KG_EUR_AF,OTOF
426631,2:26682537:G>A,NM_194248.2:c.*17+339C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,9.893,0.001,1KG_SAS_AF,OTOF
426632,2:26682557:G>C,NM_194248.2:c.*17+319C>G,\N,\N,46/46,Unknown significance,\N,intron_variant,1.265,\N,\N,OTOF
426633,2:26682584:C>A,NM_194248.2:c.*17+292G>T,\N,\N,46/46,Unknown significance,\N,intron_variant,4.335,0.0008,1KG_AFR_AF,OTOF
426634,2:26682586:T>C,NM_194248.2:c.*17+290A>G,\N,\N,46/46,Benign,\N,intron_variant,0.897,0.131,1KG_EAS_AF,OTOF
426635,2:26682592:T>C,NM_194248.2:c.*17+284A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,0.611,\N,\N,OTOF
426636,2:26682646:T>C,NM_194248.2:c.*17+230A>G,\N,\N,46/46,Benign,\N,intron_variant,1.074,0.622,1KG_EAS_AF,OTOF
426637,2:26682682:C>T,NM_194248.2:c.*17+194G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,2.904,0.0008,1KG_AFR_AF,OTOF
426638,2:26682687:G>A,NM_194248.2:c.*17+189C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.884,\N,\N,OTOF
426639,2:26682688:T>C,NM_194248.2:c.*17+188A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,1.57,0.0008,1KG_AFR_AF,OTOF
426640,2:26682715:G>A,NM_194248.2:c.*17+161C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.897,\N,\N,OTOF
426641,2:26682727:G>GGTGGCACA,NM_194248.2:c.*17+148_*17+149insTGTGCCAC,\N,\N,46/46,Unknown significance,\N,intron_variant,1.144,\N,\N,OTOF
426642,2:26682727:GTGC>G,NM_194248.2:c.*17+146_*17+148del,\N,\N,46/46,Unknown significance,\N,intron_variant,4.394,\N,\N,OTOF
426643,2:26682728:TGCGT>GTGGCACATGTGTGC,NM_194248.2:c.*17+144_*17+148delinsGCACACATGTGCCAC,\N,\N,46/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
426644,2:26682730:C>T,NM_194248.2:c.*17+146G>A,\N,\N,46/46,Benign,\N,intron_variant,1.03,0.0227,1KG_AFR_AF,OTOF
426645,2:26682731:G>A,NM_194248.2:c.*17+145C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.873,0.0008,1KG_AFR_AF,OTOF
426646,2:26682732:T>TGC,NM_194248.2:c.*17+143_*17+144insGC,\N,\N,46/46,Benign,\N,intron_variant,1.469,0.0227,1KG_AFR_AF,OTOF
426647,2:26682749:C>T,NM_194248.2:c.*17+127G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,0.906,\N,\N,OTOF
426648,2:26682783:T>C,NM_194248.2:c.*17+93A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,0.477,0.001,1KG_SAS_AF,OTOF
426649,2:26682812:A>ATG,NM_194248.2:c.*17+62_*17+63dup,\N,\N,46/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
426650,2:26682816:G>GTGTA,NM_194248.2:c.*17+59_*17+60insTACA,\N,\N,46/46,Benign,\N,intron_variant,1.835,0.1649,1KG_AFR_AF,OTOF
426651,2:26682818:G>GTA,NM_194248.2:c.*17+57_*17+58insTA,\N,\N,46/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
426652,2:26682827:C>T,NM_194248.2:c.*17+49G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,2.465,0.001,1KG_SAS_AF,OTOF
426653,2:26682828:G>A,NM_194248.2:c.*17+48C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,0.227,0.001,1KG_EUR_AF,OTOF
426654,2:26682829:C>T,NM_194248.2:c.*17+47G>A,\N,\N,46/46,Benign,\N,intron_variant,2.667,0.0197,1KG_AFR_AF,OTOF
426655,2:26682831:C>A,NM_194248.2:c.*17+45G>T,\N,\N,46/46,Unknown significance,\N,intron_variant,7.026,\N,\N,OTOF
426656,2:26682833:T>C,NM_194248.2:c.*17+43A>G,\N,\N,46/46,Unknown significance,\N,intron_variant,5.911,\N,\N,OTOF
426657,2:26682839:G>A,NM_194248.2:c.*17+37C>T,\N,\N,46/46,Unknown significance,\N,intron_variant,11,0.0008,1KG_AFR_AF,OTOF
426658,2:26682849:C>T,NM_194248.2:c.*17+27G>A,\N,\N,46/46,Unknown significance,\N,intron_variant,11.94,\N,\N,OTOF
426659,2:26682874:A>T,NM_194248.2:c.*17+2T>A,\N,\N,46/46,Unknown significance,\N,splice_donor_variant,12.61,0.000116986,EVS_EA_AF,OTOF
426660,2:26682877:CAGG>C,NM_194248.2:c.*13_*15del,\N,46/47,\N,Unknown significance,\N,splice_region_variant&3_prime_UTR_variant,13.14,0.000323625,EXAC_AFR_AF,OTOF
426661,2:26682895:A>G,NM_194248.2:c.5992T>C,NP_919224.1:p.Ter1998ArgextTer66,46/47,\N,Pathogenic,Auditory neuropathy,stop_lost,3.882,\N,\N,OTOF
426662,2:26682896:G>A,NM_194248.2:c.5991C>T,NP_919224.1:p.Ala1997=,46/47,\N,Unknown significance,\N,synonymous_variant,9.131,0.0037037,EXAC_FIN_AF,OTOF
426663,2:26682901:C>G,NM_194322.2:c.3916G>C,NP_919303.1:p.Gly1306Arg,28/29,\N,Unknown significance,\N,missense_variant,21.1,0.0015,1KG_AFR_AF,OTOF
426664,2:26682901:C>T,NM_194322.2:c.3916G>A,NP_919303.1:p.Gly1306Arg,28/29,\N,Unknown significance,\N,missense_variant,22.4,0.000290529,EXAC_AFR_AF,OTOF
426665,2:26682902:G>A,NM_194248.2:c.5985C>T,NP_919224.1:p.Leu1995=,46/47,\N,Unknown significance,\N,synonymous_variant,8.57,0.0023,1KG_AFR_AF,OTOF
426666,2:26682917:C>A,NM_194248.2:c.5970G>T,NP_919224.1:p.Leu1990=,46/47,\N,Unknown significance,\N,synonymous_variant,13.36,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426667,2:26682927:G>C,NM_194248.2:c.5960C>G,NP_919224.1:p.Pro1987Arg,46/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,27.8,\N,\N,OTOF
426668,2:26682931:C>G,NM_194248.2:c.5956G>C,NP_919224.1:p.Val1986Leu,46/47,\N,Likely benign,\N,missense_variant,11.3,0.00022748,EVS_AA_AF,OTOF
426669,2:26682936:T>G,NM_194248.2:c.5951A>C,NP_919224.1:p.Tyr1984Ser,46/47,\N,Unknown significance,\N,missense_variant,26,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426670,2:26682945:A>C,NM_194248.2:c.5942T>G,NP_919224.1:p.Leu1981Arg,46/47,\N,Unknown significance,\N,missense_variant,29.2,0.000129618,EXAC_NFE_AF,OTOF
426671,2:26682949:C>A,NM_194248.2:c.5938G>T,NP_919224.1:p.Ala1980Ser,46/47,\N,Unknown significance,\N,missense_variant,23.9,0.0025113,EXAC_AFR_AF,OTOF
426672,2:26682949:C>T,NM_194248.2:c.5938G>A,NP_919224.1:p.Ala1980Thr,46/47,\N,Unknown significance,\N,missense_variant,24.5,0.0000632831,EXAC_NFE_AF,OTOF
426673,2:26682950:G>A,NM_194248.2:c.5937C>T,NP_919224.1:p.Leu1979=,46/47,\N,Unknown significance,\N,synonymous_variant,15.54,0.000248633,EXAC_AFR_AF,OTOF
426674,2:26682959:G>C,NM_194248.2:c.5928C>G,NP_919224.1:p.Leu1976=,46/47,\N,Unknown significance,\N,synonymous_variant,10.12,0.000403226,EXAC_EAS_AF,OTOF
426675,2:26682961:GC>G,NM_194248.2:c.5925del,NP_919224.1:p.Leu1976SerfsTer155,46/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,frameshift_variant,\N,\N,\N,OTOF
426676,2:26682961:G>A,NM_194248.2:c.5926C>T,NP_919224.1:p.Leu1976Phe,46/47,\N,Unknown significance,\N,missense_variant,25.1,0.000392465,EXAC_EAS_AF,OTOF
426677,2:26682963:A>G,NM_194322.2:c.3854T>C,NP_919303.1:p.Leu1285Pro,28/29,\N,Unknown significance,\N,missense_variant,24.5,0.000763359,EXAC_AMR_AF,OTOF
426678,2:26682965:C>T,NM_194248.2:c.5922G>A,NP_919224.1:p.Leu1974=,46/47,\N,Likely benign,\N,synonymous_variant,15.05,\N,\N,OTOF
426679,2:26682971:G>A,NM_194248.2:c.5916C>T,NP_919224.1:p.Leu1972=,46/47,\N,Unknown significance,\N,synonymous_variant,11.68,\N,\N,OTOF
426680,2:26682981:A>G,NM_194248.2:c.5906T>C,NP_919224.1:p.Leu1969Pro,46/47,\N,Unknown significance,\N,missense_variant,20.3,0.000044236,EXAC_NFE_AF,OTOF
426681,2:26682982:G>A,NM_194248.2:c.5905C>T,NP_919224.1:p.Leu1969=,46/47,\N,Unknown significance,\N,synonymous_variant,11.45,0.000512295,EXAC_AMR_AF,OTOF
426682,2:26682984:T>C,NM_194248.2:c.5903A>G,NP_919224.1:p.Lys1968Arg,46/47,\N,Unknown significance,\N,missense_variant,23.4,0.0000859476,EXAC_NFE_AF,OTOF
426683,2:26682995:C>A,NM_194248.2:c.5892G>T,NP_919224.1:p.Trp1964Cys,46/47,\N,Unknown significance,\N,missense_variant,34,0.0000762835,EXAC_NFE_AF,OTOF
426684,2:26683000:G>T,NM_194248.2:c.5887C>A,NP_919224.1:p.Arg1963Ser,46/47,\N,Unknown significance,\N,missense_variant,24.6,0.0015,1KG_AFR_AF,OTOF
426685,2:26683002:T>C,NM_194248.2:c.5885A>G,NP_919224.1:p.Tyr1962Cys,46/47,\N,Unknown significance,\N,missense_variant,24.3,0.000227376,EVS_AA_AF,OTOF
426686,2:26683004:C>T,NM_194248.2:c.5883G>A,NP_919224.1:p.Thr1961=,46/47,\N,Unknown significance,\N,synonymous_variant,18.17,0.000116333,EVS_EA_AF,OTOF
426687,2:26683005:G>A,NM_194322.2:c.3812C>T,NP_919303.1:p.Thr1271Met,28/29,\N,Unknown significance,\N,missense_variant,24.4,0.0000335143,EXAC_NFE_AF,OTOF
426688,2:26683019:G>A,NM_194248.2:c.5868C>T,NP_919224.1:p.Tyr1956=,46/47,\N,Likely benign,\N,synonymous_variant,7.524,\N,\N,OTOF
426689,2:26683023:C>T,NM_194322.2:c.3794G>A,NP_919303.1:p.Arg1265His,28/29,\N,Unknown significance,\N,missense_variant,25.5,0.000523834,EXAC_AMR_AF,OTOF
426690,2:26683024:G>A,NM_194248.2:c.5863C>T,NP_919224.1:p.Arg1955Cys,46/47,\N,Unknown significance,\N,missense_variant,27,0.0000298954,EXAC_NFE_AF,OTOF
426691,2:26683024:G>C,NM_194248.2:c.5863C>G,NP_919224.1:p.Arg1955Gly,46/47,\N,Unknown significance,\N,missense_variant,22.8,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,OTOF
426692,2:26683027:C>A,NM_194248.2:c.5860G>T,NP_919224.1:p.Ala1954Ser,46/47,\N,Unknown significance,\N,missense_variant,24.7,0.0000293427,EXAC_NFE_AF,OTOF
426693,2:26683028:C>A,NM_194248.2:c.5859G>T,NP_919224.1:p.Ser1953=,46/47,\N,Unknown significance,\N,synonymous_variant,20.7,0.001,1KG_EUR_AF,OTOF
426694,2:26683028:C>T,NM_194248.2:c.5859G>A,NP_919224.1:p.Ser1953=,46/47,\N,Unknown significance,\N,synonymous_variant,19.74,0.0000970309,EXAC_SAS_AF,OTOF
426695,2:26683035:A>T,NM_194248.2:c.5852T>A,NP_919224.1:p.Leu1951His,46/47,\N,Unknown significance,\N,missense_variant,29.2,0.000226963,EVS_AA_AF,OTOF
426696,2:26683041:T>G,NM_194248.2:c.5846A>C,NP_919224.1:p.Asn1949Thr,46/47,\N,Unknown significance,\N,missense_variant,21.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426697,2:26683044:A>G,NM_194248.2:c.5843T>C,NP_919224.1:p.Leu1948Pro,46/47,\N,Unknown significance,\N,missense_variant,28.4,0.0000275862,EXAC_NFE_AF,OTOF
426698,2:26683054:T>A,NM_194248.2:c.5833A>T,NP_919224.1:p.Ile1945Phe,46/47,\N,Likely benign,\N,missense_variant,22.5,0.0000556762,EXAC_NFE_AF,OTOF
426699,2:26683058:G>A,NM_194248.2:c.5829C>T,NP_919224.1:p.Ser1943=,46/47,\N,Unknown significance,\N,synonymous_variant,11.6,0.00215232,EXAC_AFR_AF,OTOF
426700,2:26683059:C>T,NM_194248.2:c.5828G>A,NP_919224.1:p.Ser1943Asn,46/47,\N,Unknown significance,\N,missense_variant,23.7,0.0014,1KG_AMR_AF,OTOF
426701,2:26683061:C>T,NM_194248.2:c.5826G>A,NP_919224.1:p.Thr1942=,46/47,\N,Likely benign,\N,synonymous_variant,10.67,0.0014,1KG_AMR_AF,OTOF
426702,2:26683062:G>A,NM_194248.2:c.5825C>T,NP_919224.1:p.Thr1942Met,46/47,\N,Unknown significance,\N,missense_variant,23.9,0.000210881,EXAC_EAS_AF,OTOF
426703,2:26683066:C>T,NM_194248.2:c.5821G>A,NP_919224.1:p.Asp1941Asn,46/47,\N,Likely benign,\N,missense_variant,24,0.001,1KG_EAS_AF|1KG_EUR_AF,OTOF
426704,2:26683067:G>A,NM_194248.2:c.5820C>T,NP_919224.1:p.Pro1940=,46/47,\N,Unknown significance,\N,synonymous_variant,8.642,0.000234632,EXAC_AMR_AF,OTOF
426705,2:26683070:C>A,NM_194248.2:c.5817G>T,NP_919224.1:p.Arg1939=,46/47,\N,Likely benign,\N,synonymous_variant,13.58,\N,\N,OTOF
426706,2:26683071:C>T,NM_194248.2:c.5816G>A,NP_919224.1:p.Arg1939Gln,46/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant&splice_region_variant,31,0.0014,1KG_AMR_AF,OTOF
426707,2:26683071:C>G,NM_194248.2:c.5816G>C,NP_919224.1:p.Arg1939Pro,46/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.6,0.0000958222,EXAC_SAS_AF,OTOF
426708,2:26683072:G>A,NM_194248.2:c.5815C>T,NP_919224.1:p.Arg1939Trp,46/47,\N,Pathogenic,Deafness| autosomal recessive 9,missense_variant&splice_region_variant,32,0.000227066,EVS_AA_AF,OTOF
426709,2:26683074:C>T,NM_194248.2:c.5814-1G>A,\N,\N,45/46,Unknown significance,\N,splice_acceptor_variant,23.6,0.0000961169,EXAC_SAS_AF,OTOF
426710,2:26683078:A>G,NM_194248.2:c.5814-5T>C,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,8.003,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426711,2:26683079:G>A,NM_194248.2:c.5814-6C>T,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,11.39,0.00017819,EXAC_AFR_AF,OTOF
426712,2:26683080:T>A,NM_194248.2:c.5814-7A>T,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,6.322,0.00107565,EXAC_AFR_AF,OTOF
426713,2:26683081:A>G,NM_194248.2:c.5814-8T>C,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,4.259,0.000227273,EVS_AA_AF,OTOF
426714,2:26683087:G>C,NM_194248.2:c.5814-14C>G,\N,\N,45/46,Unknown significance,\N,intron_variant,1.331,0.0000312793,EXAC_NFE_AF,OTOF
426715,2:26683092:A>AG,NM_194248.2:c.5814-20dup,\N,\N,45/46,Unknown significance,\N,intron_variant,0.173,0.00026441,EXAC_AMR_AF,OTOF
426716,2:26683093:G>C,NM_194248.2:c.5814-20C>G,\N,\N,45/46,Unknown significance,\N,intron_variant,1.009,0.0000655824,EXAC_NFE_AF,OTOF
426717,2:26683096:C>T,NM_194248.2:c.5814-23G>A,\N,\N,45/46,Unknown significance,\N,intron_variant,2.252,0.0000997407,EXAC_SAS_AF,OTOF
426718,2:26683097:G>A,NM_194248.2:c.5814-24C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,6.562,0.0014,1KG_AMR_AF,OTOF
426719,2:26683105:G>C,NM_194248.2:c.5814-32C>G,\N,\N,45/46,Unknown significance,\N,intron_variant,0.425,0.0001048,EXAC_SAS_AF,OTOF
426720,2:26683110:A>G,NM_194248.2:c.5814-37T>C,\N,\N,45/46,Unknown significance,\N,intron_variant,5.829,0.000216169,EXAC_AFR_AF,OTOF
426721,2:26683111:GGGA>G,NM_194248.2:c.5814-41_5814-39del,\N,\N,45/46,Unknown significance,\N,intron_variant,3.162,\N,\N,OTOF
426722,2:26683114:A>G,NM_194248.2:c.5814-41T>C,\N,\N,45/46,Unknown significance,\N,intron_variant,6.58,0.0000419358,EXAC_NFE_AF,OTOF
426723,2:26683125:T>C,NM_194248.2:c.5814-52A>G,\N,\N,45/46,Benign,\N,intron_variant,3.062,0.00561798,EXAC_AMR_AF,OTOF
426724,2:26683189:C>T,NM_194248.2:c.5814-116G>A,\N,\N,45/46,Unknown significance,\N,intron_variant,2.58,\N,\N,OTOF
426725,2:26683194:C>T,NM_194248.2:c.5814-121G>A,\N,\N,45/46,Benign,\N,intron_variant,2.598,0.0272,1KG_AFR_AF,OTOF
426726,2:26683234:C>T,NM_194248.2:c.5814-161G>A,\N,\N,45/46,Unknown significance,\N,intron_variant,7.305,\N,\N,OTOF
426727,2:26683243:G>A,NM_194248.2:c.5814-170C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,0.843,0.001,1KG_EAS_AF,OTOF
426728,2:26683262:G>C,NM_194248.2:c.5814-189C>G,\N,\N,45/46,Unknown significance,\N,intron_variant,2.425,0.0008,1KG_AFR_AF,OTOF
426729,2:26683297:G>T,NM_194248.2:c.5813+218C>A,\N,\N,45/46,Unknown significance,\N,intron_variant,2.624,\N,\N,OTOF
426730,2:26683301:T>C,NM_194248.2:c.5813+214A>G,\N,\N,45/46,Unknown significance,\N,intron_variant,1.977,0.0008,1KG_AFR_AF,OTOF
426731,2:26683312:G>A,NM_194248.2:c.5813+203C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,2.299,\N,\N,OTOF
426732,2:26683380:A>T,NM_194248.2:c.5813+135T>A,\N,\N,45/46,Unknown significance,\N,intron_variant,1.633,0.003,1KG_AFR_AF,OTOF
426733,2:26683440:T>TG,NM_194248.2:c.5813+74dup,\N,\N,45/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
426734,2:26683466:C>T,NM_194248.2:c.5813+49G>A,\N,\N,45/46,Unknown significance,\N,intron_variant,5.761,0.002,1KG_EAS_AF,OTOF
426735,2:26683467:G>A,NM_194248.2:c.5813+48C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,4.876,0.0012987,EXAC_OTH_AF,OTOF
426736,2:26683468:C>G,NM_194248.2:c.5813+47G>C,\N,\N,45/46,Unknown significance,\N,intron_variant,3.096,0.000017375,EXAC_NFE_AF,OTOF
426737,2:26683471:C>T,NM_194248.2:c.5813+44G>A,\N,\N,45/46,Unknown significance,\N,intron_variant,4.715,0.00152265,EXAC_FIN_AF,OTOF
426738,2:26683475:G>A,NM_194248.2:c.5813+40C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,4.293,0.000116279,EVS_EA_AF,OTOF
426739,2:26683485:G>A,NM_194248.2:c.5813+30C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,4.89,0.0000169377,EXAC_NFE_AF,OTOF
426740,2:26683486:G>A,NM_194248.2:c.5813+29C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,4.385,0.000116279,EVS_EA_AF,OTOF
426741,2:26683491:G>T,NM_194248.2:c.5813+24C>A,\N,\N,45/46,Unknown significance,\N,intron_variant,5.088,0.002,1KG_SAS_AF,OTOF
426742,2:26683497:G>A,NM_194248.2:c.5813+18C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,5.041,0.000116279,EVS_EA_AF,OTOF
426743,2:26683500:C>T,NM_194248.2:c.5813+15G>A,\N,\N,45/46,Likely benign,\N,intron_variant,7.276,0.000232558,EVS_EA_AF,OTOF
426744,2:26683501:G>A,NM_194248.2:c.5813+14C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,8.084,0.001,1KG_EUR_AF,OTOF
426745,2:26683502:G>A,NM_194248.2:c.5813+13C>T,\N,\N,45/46,Unknown significance,\N,intron_variant,13.55,0.000107573,EXAC_AFR_AF,OTOF
426746,2:26683507:G>A,NM_194248.2:c.5813+8C>T,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,12.65,0.0000158088,EXAC_NFE_AF,OTOF
426747,2:26683509:A>C,NM_194248.2:c.5813+6T>G,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,12.72,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426748,2:26683512:C>CA,NM_194248.2:c.5813+2dup,\N,\N,45/46,Unknown significance,\N,splice_region_variant&intron_variant,\N,\N,\N,OTOF
426749,2:26683515:T>C,NM_194248.2:c.5813A>G,NP_919224.1:p.Asn1938Ser,45/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.2,0.0000901063,EXAC_AMR_AF,OTOF
426750,2:26683516:T>C,NM_004802.3:c.3511A>G,NP_004793.2:p.Asn1171Asp,28/30,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.6,0.001,1KG_SAS_AF,OTOF
426751,2:26683520:T>G,NM_194248.2:c.5808A>C,NP_919224.1:p.Lys1936Asn,45/47,\N,Benign,\N,missense_variant,28.5,0.02,OTO_TR_AF,OTOF
426752,2:26683527:A>AG,NM_194248.2:c.5800dup,NP_919224.1:p.Leu1934ProfsTer251,45/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,36,0.0000887626,EXAC_AMR_AF,OTOF
426753,2:26683533:T>G,NM_194248.2:c.5795A>C,NP_919224.1:p.Asp1932Ala,45/47,\N,Benign,\N,missense_variant,28.6,0.015,OTO_TR_AF,OTOF
426754,2:26683537:G>A,NM_194248.2:c.5791C>T,NP_919224.1:p.Pro1931Ser,45/47,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_SAS_AF,OTOF
426755,2:26683537:G>T,NM_194248.2:c.5791C>A,NP_919224.1:p.Pro1931Thr,45/47,\N,Unknown significance,\N,missense_variant,29.5,0.0000151906,EXAC_NFE_AF,OTOF
426756,2:26683538:T>C,NM_194248.2:c.5790A>G,NP_919224.1:p.Glu1930=,45/47,\N,Unknown significance,\N,synonymous_variant,5.415,0.0000615688,EXAC_SAS_AF,OTOF
426757,2:26683538:T>G,NM_194248.2:c.5790A>C,NP_919224.1:p.Glu1930Asp,45/47,\N,Unknown significance,\N,missense_variant,19.32,0.003125,OTO_US_AF,OTOF
426758,2:26683541:A>T,NM_001287489.1:c.5787T>A,NP_001274418.1:p.Asn1929Lys,45/46,\N,Unknown significance,\N,missense_variant,13.19,0.0000151644,EXAC_NFE_AF,OTOF
426759,2:26683543:T>G,NM_001287489.1:c.5785A>C,NP_001274418.1:p.Asn1929His,45/46,\N,Pathogenic,Deafness| non-syndromic,missense_variant,25,\N,\N,OTOF
426760,2:26683544:G>A,NM_194248.2:c.5784C>T,NP_919224.1:p.Arg1928=,45/47,\N,Unknown significance,\N,synonymous_variant,11.91,\N,\N,OTOF
426761,2:26683545:C>A,NM_194248.2:c.5783G>T,NP_919224.1:p.Arg1928Leu,45/47,\N,Unknown significance,\N,missense_variant,29,0.000226963,EVS_AA_AF,OTOF
426762,2:26683545:C>T,NM_194248.2:c.5783G>A,NP_919224.1:p.Arg1928His,45/47,\N,Unknown significance,\N,missense_variant,35,0.0000613723,EXAC_SAS_AF,OTOF
426763,2:26683552:G>T,NM_194248.2:c.5776C>A,NP_919224.1:p.Leu1926Met,45/47,\N,Unknown significance,\N,missense_variant,24,0.0000875657,EXAC_AMR_AF,OTOF
426764,2:26683559:T>G,NM_194248.2:c.5769A>C,NP_919224.1:p.Pro1923=,45/47,\N,Unknown significance,\N,synonymous_variant,7.06,0.0000611023,EXAC_SAS_AF,OTOF
426765,2:26683570:C>G,NM_194248.2:c.5758G>C,NP_919224.1:p.Glu1920Gln,45/47,\N,Unknown significance,\N,missense_variant,29.7,0.0000151016,EXAC_NFE_AF,OTOF
426766,2:26683583:T>C,NM_194248.2:c.5745A>G,NP_919224.1:p.Thr1915=,45/47,\N,Unknown significance,\N,synonymous_variant,2.447,0.0000150962,EXAC_NFE_AF,OTOF
426767,2:26683585:T>C,NM_194248.2:c.5743A>G,NP_919224.1:p.Thr1915Ala,45/47,\N,Unknown significance,\N,missense_variant,21.6,0.0000876578,EXAC_AMR_AF,OTOF
426768,2:26683586:C>T,NM_194248.2:c.5742G>A,NP_919224.1:p.Leu1914=,45/47,\N,Likely benign,\N,synonymous_variant,11.85,0.0043,1KG_AMR_AF,OTOF
426769,2:26683597:G>T,NM_194248.2:c.5731C>A,NP_919224.1:p.Leu1911Met,45/47,\N,Unknown significance,\N,missense_variant,22.7,0.0000151098,EXAC_NFE_AF,OTOF
426770,2:26683599:T>C,NM_194248.2:c.5729A>G,NP_919224.1:p.Glu1910Gly,45/47,\N,Unknown significance,\N,missense_variant,29.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426771,2:26683601:A>G,NM_194248.2:c.5727T>C,NP_919224.1:p.Ala1909=,45/47,\N,Unknown significance,\N,synonymous_variant,7.632,0.0000151135,EXAC_NFE_AF,OTOF
426772,2:26683601:A>T,NM_194248.2:c.5727T>A,NP_919224.1:p.Ala1909=,45/47,\N,Unknown significance,\N,synonymous_variant,1.283,0.000226963,EVS_AA_AF,OTOF
426773,2:26683608:A>C,NM_194248.2:c.5720T>G,NP_919224.1:p.Val1907Gly,45/47,\N,Unknown significance,\N,missense_variant,27.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426774,2:26683617:T>C,NM_194248.2:c.5713-2A>G,\N,\N,44/46,Pathogenic,Auditory neuropathy,splice_acceptor_variant,24.3,0.0000151451,EXAC_NFE_AF,OTOF
426775,2:26683621:G>A,NM_194248.2:c.5713-6C>T,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,11.62,0.0000303196,EXAC_NFE_AF,OTOF
426776,2:26683621:G>C,NM_194248.2:c.5713-6C>G,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,10.3,0.0000975991,EXAC_AFR_AF,OTOF
426777,2:26683623:G>A,NM_194248.2:c.5713-8C>T,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,10.49,0.0000610277,EXAC_SAS_AF,OTOF
426778,2:26683630:C>G,NM_194248.2:c.5713-15G>C,\N,\N,44/46,Unknown significance,\N,intron_variant,6.521,0.000061065,EXAC_SAS_AF,OTOF
426779,2:26683637:C>T,NM_194248.2:c.5713-22G>A,\N,\N,44/46,Unknown significance,\N,intron_variant,7.26,0.0000980584,EXAC_AFR_AF,OTOF
426780,2:26683640:C>T,NM_194248.2:c.5713-25G>A,\N,\N,44/46,Unknown significance,\N,intron_variant,0.002,0.001,1KG_SAS_AF,OTOF
426781,2:26683641:G>A,NM_194248.2:c.5713-26C>T,\N,\N,44/46,Unknown significance,\N,intron_variant,3.802,0.0008,1KG_AFR_AF,OTOF
426782,2:26683649:T>C,NM_194248.2:c.5713-34A>G,\N,\N,44/46,Unknown significance,\N,intron_variant,2.273,0.0000304035,EXAC_NFE_AF,OTOF
426783,2:26683651:C>T,NM_194248.2:c.5713-36G>A,\N,\N,44/46,Unknown significance,\N,intron_variant,2.548,0.000116279,EVS_EA_AF,OTOF
426784,2:26683652:G>A,NM_194248.2:c.5713-37C>T,\N,\N,44/46,Unknown significance,\N,intron_variant,3.503,0.001,1KG_EUR_AF,OTOF
426785,2:26683657:G>C,NM_194248.2:c.5713-42C>G,\N,\N,44/46,Unknown significance,\N,intron_variant,2.773,0.0000609162,EXAC_SAS_AF,OTOF
426786,2:26683663:T>G,NM_194248.2:c.5713-48A>C,\N,\N,44/46,Benign,\N,intron_variant,4.713,0.007,1KG_EUR_AF,OTOF
426787,2:26683666:G>A,NM_194248.2:c.5713-51C>T,\N,\N,44/46,Unknown significance,\N,intron_variant,5.165,0.001,1KG_EAS_AF,OTOF
426788,2:26683670:C>T,NM_194248.2:c.5712+50G>A,\N,\N,44/46,Unknown significance,\N,intron_variant,6.297,0.00068089,EVS_AA_AF,OTOF
426789,2:26683680:C>G,NM_194248.2:c.5712+40G>C,\N,\N,44/46,Unknown significance,\N,intron_variant,6.226,0.0000150571,EXAC_NFE_AF,OTOF
426790,2:26683691:C>A,NM_194248.2:c.5712+29G>T,\N,\N,44/46,Unknown significance,\N,intron_variant,14.72,0.0000867754,EXAC_AMR_AF,OTOF
426791,2:26683699:C>T,NM_194248.2:c.5712+21G>A,\N,\N,44/46,Unknown significance,\N,intron_variant,8.992,0.0000867002,EXAC_AMR_AF,OTOF
426792,2:26683706:G>A,NM_194248.2:c.5712+14C>T,\N,\N,44/46,Unknown significance,\N,intron_variant,10.29,\N,\N,OTOF
426793,2:26683713:T>G,NM_194248.2:c.5712+7A>C,\N,\N,44/46,Benign,\N,splice_region_variant&intron_variant,12.03,0.005,OTO_TR_AF,OTOF
426794,2:26683714:G>C,NM_194248.2:c.5712+6C>G,\N,\N,44/46,Likely benign,\N,splice_region_variant&intron_variant,9.187,\N,\N,OTOF
426795,2:26683714:G>A,NM_194248.2:c.5712+6C>T,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,10.59,0.001,1KG_EUR_AF,OTOF
426796,2:26683714:G>T,NM_194248.2:c.5712+6C>A,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,9.888,0.000153468,EXAC_FIN_AF,OTOF
426797,2:26683715:C>T,NM_194248.2:c.5712+5G>A,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,19.09,0.0000300427,EXAC_NFE_AF,OTOF
426798,2:26683716:G>A,NM_194248.2:c.5712+4C>T,\N,\N,44/46,Unknown significance,\N,splice_region_variant&intron_variant,14.05,0.0014,1KG_AMR_AF,OTOF
426799,2:26683719:C>T,NM_194248.2:c.5712+1G>A,\N,\N,44/46,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_donor_variant,26.3,0.0000300372,EXAC_NFE_AF,OTOF
426800,2:26683720:C>T,NM_194248.2:c.5712G>A,NP_919224.1:p.Thr1904=,44/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.28,0.000060562,EXAC_SAS_AF,OTOF
426801,2:26683721:G>A,NM_194248.2:c.5711C>T,NP_919224.1:p.Thr1904Met,44/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.0031,1KG_SAS_AF,OTOF
426802,2:26683728:C>T,NM_194248.2:c.5704G>A,NP_919224.1:p.Glu1902Lys,44/47,\N,Unknown significance,\N,missense_variant,24.3,0.0000963391,EXAC_AFR_AF,OTOF
426803,2:26683729:A>G,NM_194248.2:c.5703T>C,NP_919224.1:p.Phe1901=,44/47,\N,Unknown significance,\N,synonymous_variant,9.044,0.000115714,EXAC_EAS_AF,OTOF
426804,2:26683730:A>G,NM_194248.2:c.5702T>C,NP_919224.1:p.Phe1901Ser,44/47,\N,Unknown significance,\N,missense_variant,23.4,0.0000300336,EXAC_NFE_AF,OTOF
426805,2:26683731:A>G,NM_194248.2:c.5701T>C,NP_919224.1:p.Phe1901Leu,44/47,\N,Unknown significance,\N,missense_variant,19.18,0.0000150173,EXAC_NFE_AF,OTOF
426806,2:26683732:C>T,NM_194248.2:c.5700G>A,NP_919224.1:p.Glu1900=,44/47,\N,Unknown significance,\N,synonymous_variant,14.98,0.00030281,EXAC_SAS_AF,OTOF
426807,2:26683737:C>T,NM_194248.2:c.5695G>A,NP_919224.1:p.Asp1899Asn,44/47,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
426808,2:26683737:C>G,NM_194248.2:c.5695G>C,NP_919224.1:p.Asp1899His,44/47,\N,Unknown significance,\N,missense_variant,34,0.0000150173,EXAC_NFE_AF,OTOF
426809,2:26683741:C>A,NM_194248.2:c.5691G>T,NP_919224.1:p.Glu1897Asp,44/47,\N,Unknown significance,\N,missense_variant,25.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426810,2:26683743:C>A,NM_194248.2:c.5689G>T,NP_919224.1:p.Glu1897Ter,44/47,\N,Unknown significance,\N,stop_gained,50,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426811,2:26683746:T>C,NM_194248.2:c.5686A>G,NP_919224.1:p.Asn1896Asp,44/47,\N,Likely benign,\N,missense_variant,11.67,0.000060562,EXAC_SAS_AF,OTOF
426812,2:26683747:G>A,NM_194248.2:c.5685C>T,NP_919224.1:p.Arg1895=,44/47,\N,Unknown significance,\N,synonymous_variant,11.61,0.000115741,EXAC_EAS_AF,OTOF
426813,2:26683748:C>T,NM_194248.2:c.5684G>A,NP_919224.1:p.Arg1895His,44/47,\N,Unknown significance,\N,missense_variant,34,0.000432302,EXAC_AMR_AF,OTOF
426814,2:26683750:G>A,NM_194248.2:c.5682C>T,NP_919224.1:p.Ala1894=,44/47,\N,Unknown significance,\N,synonymous_variant,12.61,\N,\N,OTOF
426815,2:26683758:G>T,NM_194248.2:c.5674C>A,NP_919224.1:p.Leu1892Ile,44/47,\N,Unknown significance,\N,missense_variant,24,0.000060562,EXAC_SAS_AF,OTOF
426816,2:26683759:G>A,NM_194248.2:c.5673C>T,NP_919224.1:p.Pro1891=,44/47,\N,Unknown significance,\N,synonymous_variant,11.72,0.000232558,EVS_EA_AF,OTOF
426817,2:26683764:A>C,NM_194248.2:c.5668T>G,NP_919224.1:p.Trp1890Gly,44/47,\N,Unknown significance,\N,missense_variant,29.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426818,2:26683765:C>T,NM_194248.2:c.5667G>A,NP_919224.1:p.Trp1889Ter,44/47,\N,Unknown significance,\N,stop_gained,50,0.0000150227,EXAC_NFE_AF,OTOF
426819,2:26683769:C>T,NM_194248.2:c.5663G>A,NP_919224.1:p.Gly1888Asp,44/47,\N,Benign,Deafness| autosomal recessive 9; OTOF-Related Deafness,missense_variant,33,\N,\N,OTOF
426820,2:26683776:C>T,NM_194248.2:c.5656G>A,NP_919224.1:p.Val1886Ile,44/47,\N,Unknown significance,\N,missense_variant,22.1,0.001,1KG_EAS_AF,OTOF
426821,2:26683777:G>A,NM_194248.2:c.5655C>T,NP_919224.1:p.Arg1885=,44/47,\N,Benign,\N,synonymous_variant,14.76,0.0694444,OTO_ES_AF,OTOF
426822,2:26683779:G>A,NM_194248.2:c.5653C>T,NP_919224.1:p.Arg1885Cys,44/47,\N,Unknown significance,\N,missense_variant,34,0.0014,1KG_AMR_AF,OTOF
426823,2:26683780:C>T,NM_194248.2:c.5652G>A,NP_919224.1:p.Lys1884=,44/47,\N,Unknown significance,\N,synonymous_variant,15.26,0.0000601142,EXAC_NFE_AF,OTOF
426824,2:26683781:T>A,NM_194248.2:c.5651A>T,NP_919224.1:p.Lys1884Met,44/47,\N,Unknown significance,\N,missense_variant,31,0.000096302,EXAC_AFR_AF,OTOF
426825,2:26683785:G>A,NM_194248.2:c.5647C>T,NP_919224.1:p.Gln1883Ter,44/47,\N,Pathogenic,Auditory neuropathy spectrum disorder,stop_gained,43,\N,\N,OTOF
426826,2:26683794:T>C,NM_194248.2:c.5638A>G,NP_919224.1:p.Ile1880Val,44/47,\N,Unknown significance,\N,missense_variant,25.9,0.00023175,EXAC_EAS_AF,OTOF
426827,2:26683798:C>T,NM_194248.2:c.5634G>A,NP_919224.1:p.Val1878=,44/47,\N,Unknown significance,\N,synonymous_variant,14.97,0.000015048,EXAC_NFE_AF,OTOF
426828,2:26683800:C>T,NM_194322.2:c.3562G>A,NP_919303.1:p.Val1188Met,26/29,\N,Unknown significance,\N,missense_variant,23.5,0.00025956,EXAC_AMR_AF,OTOF
426829,2:26683801:G>A,NM_194248.2:c.5631C>T,NP_919224.1:p.Leu1877=,44/47,\N,Unknown significance,\N,synonymous_variant,13.35,0.0000605694,EXAC_SAS_AF,OTOF
426830,2:26683803:G>A,NM_194248.2:c.5629C>T,NP_919224.1:p.Leu1877Phe,44/47,\N,Unknown significance,\N,missense_variant,14.15,0.000226963,EVS_AA_AF,OTOF
426831,2:26683804:G>A,NM_194248.2:c.5628C>T,NP_919224.1:p.Pro1876=,44/47,\N,Unknown significance,\N,synonymous_variant,10.3,0.001,1KG_EUR_AF,OTOF
426832,2:26683806:G>T,NM_194248.2:c.5626C>A,NP_919224.1:p.Pro1876Thr,44/47,\N,Unknown significance,\N,missense_variant,22.1,0.000116279,EVS_EA_AF,OTOF
426833,2:26683809:C>T,NM_194248.2:c.5623G>A,NP_919224.1:p.Val1875Met,44/47,\N,Unknown significance,\N,missense_variant,22.8,0.00222717,EXAC_OTH_AF,OTOF
426834,2:26683814:A>C,NM_194248.2:c.5618T>G,NP_919224.1:p.Val1873Gly,44/47,\N,Benign,\N,missense_variant,15.91,0.01,OTO_TR_AF,OTOF
426835,2:26683815:C>T,NM_194248.2:c.5617G>A,NP_919224.1:p.Val1873Met,44/47,\N,Likely benign,\N,missense_variant,22.7,0.000060584,EXAC_SAS_AF,OTOF
426836,2:26683821:C>T,NM_194248.2:c.5611G>A,NP_919224.1:p.Gly1871Arg,44/47,\N,Likely benign,\N,missense_variant,23,0.000116279,EVS_EA_AF,OTOF
426837,2:26683822:G>A,NM_194248.2:c.5610C>T,NP_919224.1:p.Thr1870=,44/47,\N,Likely benign,\N,synonymous_variant,15.04,0.001,1KG_EUR_AF,OTOF
426838,2:26683823:G>A,NM_194248.2:c.5609C>T,NP_919224.1:p.Thr1870Ile,44/47,\N,Likely benign,\N,missense_variant,22,0.000121197,EXAC_SAS_AF,OTOF
426839,2:26683826:G>A,NM_194248.2:c.5606C>T,NP_919224.1:p.Ala1869Val,44/47,\N,Unknown significance,\N,missense_variant,22.7,0.000115982,EXAC_EAS_AF,OTOF
426840,2:26683830:T>C,NM_194248.2:c.5602A>G,NP_919224.1:p.Met1868Val,44/47,\N,Unknown significance,\N,missense_variant,21.8,0.0000606061,EXAC_SAS_AF,OTOF
426841,2:26683835:A>G,NM_194248.2:c.5597T>C,NP_919224.1:p.Met1866Thr,44/47,\N,Unknown significance,\N,missense_variant,23.1,0.0000150702,EXAC_NFE_AF,OTOF
426842,2:26683836:T>C,NM_194248.2:c.5596A>G,NP_919224.1:p.Met1866Val,44/47,\N,Unknown significance,\N,missense_variant,22.1,0.000121256,EXAC_SAS_AF,OTOF
426843,2:26683837:G>A,NM_194248.2:c.5595C>T,NP_919224.1:p.Thr1865=,44/47,\N,Unknown significance,\N,synonymous_variant,12.05,\N,\N,OTOF
426844,2:26683855:CTT>C,NM_194248.2:c.5575_5576del,NP_919224.1:p.Lys1859AspfsTer38,44/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,frameshift_variant,35,\N,\N,OTOF
426845,2:26683860:C>A,NM_004802.3:c.3271G>T,NP_004793.2:p.Ala1091Ser,27/30,\N,Unknown significance,\N,missense_variant,20.8,0.0000608199,EXAC_SAS_AF,OTOF
426846,2:26683860:C>T,NM_194248.2:c.5572G>A,NP_919224.1:p.Ala1858Thr,44/47,\N,Unknown significance,\N,missense_variant,24.2,0.000116279,EVS_EA_AF,OTOF
426847,2:26683865:C>T,NM_194248.2:c.5567G>A,NP_919224.1:p.Arg1856Gln,44/47,\N,Pathogenic,Deafness| autosomal recessive 9,missense_variant,26,0.000116387,EXAC_EAS_AF,OTOF
426848,2:26683866:G>A,NM_194248.2:c.5566C>T,NP_919224.1:p.Arg1856Trp,44/47,\N,Pathogenic,NSHL/Auditory neuropathy| autosomal recessive,missense_variant,25.1,0.000232883,EXAC_EAS_AF,OTOF
426849,2:26683866:G>T,NM_194248.2:c.5566C>A,NP_919224.1:p.Arg1856=,44/47,\N,Unknown significance,\N,synonymous_variant,9.147,0.0000980008,EXAC_AFR_AF,OTOF
426850,2:26683867:C>T,NM_194248.2:c.5565G>A,NP_919224.1:p.Pro1855=,44/47,\N,Unknown significance,\N,synonymous_variant,9.73,0.00019604,EXAC_AFR_AF,OTOF
426851,2:26683868:G>A,NM_194248.2:c.5564C>T,NP_919224.1:p.Pro1855Leu,44/47,\N,Unknown significance,\N,missense_variant,32,0.0000979816,EXAC_AFR_AF,OTOF
426852,2:26683874:C>T,NM_194248.2:c.5558G>A,NP_919224.1:p.Arg1853Gln,44/47,\N,Benign,\N,missense_variant,24.2,0.0183328,EXAC_FIN_AF,OTOF
426853,2:26683875:G>A,NM_194248.2:c.5557C>T,NP_919224.1:p.Arg1853Trp,44/47,\N,Unknown significance,\N,missense_variant,34,0.0000151902,EXAC_NFE_AF,OTOF
426854,2:26683875:G>T,NM_194248.2:c.5557C>A,NP_919224.1:p.Arg1853=,44/47,\N,Unknown significance,\N,synonymous_variant,13.47,0.000243813,EXAC_SAS_AF,OTOF
426855,2:26683876:G>C,NM_194248.2:c.5556C>G,NP_919224.1:p.Asn1852Lys,44/47,\N,Unknown significance,\N,missense_variant,26.6,0.000116577,EXAC_EAS_AF,OTOF
426856,2:26683879:C>G,NM_194248.2:c.5553G>C,NP_919224.1:p.Leu1851=,44/47,\N,Unknown significance,\N,synonymous_variant,10.43,0.000183128,EXAC_SAS_AF,OTOF
426857,2:26683890:C>G,NM_194248.2:c.5542G>C,NP_919224.1:p.Glu1848Gln,44/47,\N,Unknown significance,\N,missense_variant,25.3,0.0000615839,EXAC_SAS_AF,OTOF
426858,2:26683890:C>T,NM_194248.2:c.5542G>A,NP_919224.1:p.Glu1848Lys,44/47,\N,Unknown significance,\N,missense_variant,23.9,0.0008,1KG_AFR_AF,OTOF
426859,2:26683891:G>A,NM_194248.2:c.5541C>T,NP_919224.1:p.Ile1847=,44/47,\N,Unknown significance,\N,synonymous_variant,12.53,0.000201816,EXAC_AFR_AF,OTOF
426860,2:26683895:G>C,NM_194248.2:c.5537C>G,NP_919224.1:p.Ala1846Gly,44/47,\N,Unknown significance,\N,missense_variant,22.9,0.000015454,EXAC_NFE_AF,OTOF
426861,2:26683897:C>T,NM_194248.2:c.5535G>A,NP_919224.1:p.Gly1845=,44/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.36,\N,\N,OTOF
426862,2:26683932:A>G,NM_194248.2:c.5534-34T>C,\N,\N,43/46,Unknown significance,\N,intron_variant,0.402,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
426863,2:26683941:G>T,NM_194248.2:c.5534-43C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,1.399,0.0000455249,EXAC_NFE_AF,OTOF
426864,2:26683943:G>T,NM_194248.2:c.5534-45C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,0.149,0.000236295,EXAC_AMR_AF,OTOF
426865,2:26683945:G>A,NM_194248.2:c.5534-47C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,3.302,0.000246063,EVS_AA_AF,OTOF
426866,2:26683947:C>G,NM_194248.2:c.5534-49G>C,\N,\N,43/46,Unknown significance,\N,intron_variant,0.058,0.00145985,EXAC_FIN_AF,OTOF
426867,2:26683948:G>A,NM_194248.2:c.5534-50C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,2.611,0.000769231,EXAC_AMR_AF,OTOF
426868,2:26683951:G>T,NM_194248.2:c.5534-53C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,0.489,\N,\N,OTOF
426869,2:26683959:G>T,NM_194248.2:c.5534-61C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,1.472,\N,\N,OTOF
426870,2:26684006:T>C,NM_194248.2:c.5534-108A>G,\N,\N,43/46,Benign,\N,intron_variant,0.027,0.1505,1KG_AFR_AF,OTOF
426871,2:26684022:C>A,NM_194248.2:c.5534-124G>T,\N,\N,43/46,Benign,\N,intron_variant,6.648,0.006,1KG_EAS_AF,OTOF
426872,2:26684041:C>G,NM_194248.2:c.5534-143G>C,\N,\N,43/46,Unknown significance,\N,intron_variant,2.321,0.0014,1KG_AMR_AF,OTOF
426873,2:26684045:T>C,NM_194248.2:c.5534-147A>G,\N,\N,43/46,Unknown significance,\N,intron_variant,3.289,\N,\N,OTOF
426874,2:26684067:G>A,NM_194248.2:c.5534-169C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,1.388,\N,\N,OTOF
426875,2:26684096:T>A,NM_194248.2:c.5534-198A>T,\N,\N,43/46,Benign,\N,intron_variant,0.244,0.0749,1KG_AFR_AF,OTOF
426876,2:26684136:C>T,NM_194248.2:c.5534-238G>A,\N,\N,43/46,Benign,\N,intron_variant,9.27,0.0101,1KG_AMR_AF,OTOF
426877,2:26684138:G>T,NM_194248.2:c.5534-240C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,8.873,\N,\N,OTOF
426878,2:26684215:G>T,NM_194248.2:c.5534-317C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,7.21,\N,\N,OTOF
426879,2:26684280:G>A,NM_194248.2:c.5533+284C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,7.975,\N,\N,OTOF
426880,2:26684290:G>A,NM_194248.2:c.5533+274C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,8.349,0.0031,1KG_SAS_AF,OTOF
426881,2:26684294:G>T,NM_194248.2:c.5533+270C>A,\N,\N,43/46,Unknown significance,\N,intron_variant,9.007,0.002,1KG_EAS_AF,OTOF
426882,2:26684308:C>G,NM_194248.2:c.5533+256G>C,\N,\N,43/46,Unknown significance,\N,intron_variant,8.135,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
426883,2:26684318:T>C,NM_194248.2:c.5533+246A>G,\N,\N,43/46,Unknown significance,\N,intron_variant,5.976,0.0008,1KG_AFR_AF,OTOF
426884,2:26684330:C>T,NM_194248.2:c.5533+234G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,7.229,\N,\N,OTOF
426885,2:26684348:T>G,NM_194248.2:c.5533+216A>C,\N,\N,43/46,Unknown significance,\N,intron_variant,1.81,0.0008,1KG_AFR_AF,OTOF
426886,2:26684353:G>A,NM_194248.2:c.5533+211C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,1.973,0.0015,1KG_AFR_AF,OTOF
426887,2:26684392:C>T,NM_194248.2:c.5533+172G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,1.641,\N,\N,OTOF
426888,2:26684393:G>A,NM_194248.2:c.5533+171C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,4.746,\N,\N,OTOF
426889,2:26684414:C>T,NM_194248.2:c.5533+150G>A,\N,\N,43/46,Benign,\N,intron_variant,1.209,0.0068,1KG_AFR_AF,OTOF
426890,2:26684422:C>T,NM_194248.2:c.5533+142G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,4.045,0.0008,1KG_AFR_AF,OTOF
426891,2:26684423:G>A,NM_194248.2:c.5533+141C>T,\N,\N,43/46,Unknown significance,\N,intron_variant,0.181,0.002,1KG_SAS_AF,OTOF
426892,2:26684433:C>G,NM_194248.2:c.5533+131G>C,\N,\N,43/46,Unknown significance,\N,intron_variant,1.834,0.001,1KG_SAS_AF,OTOF
426893,2:26684434:CT>C,NM_194248.2:c.5533+129del,\N,\N,43/46,Benign,\N,intron_variant,6.664,0.0139,1KG_EUR_AF,OTOF
426894,2:26684490:C>T,NM_194248.2:c.5533+74G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,4.991,\N,\N,OTOF
426895,2:26684497:C>T,NM_194248.2:c.5533+67G>A,\N,\N,43/46,Benign,\N,intron_variant,4.529,0.1528,1KG_AFR_AF,OTOF
426896,2:26684500:C>A,NM_194248.2:c.5533+64G>T,\N,\N,43/46,Unknown significance,\N,intron_variant,5.766,\N,\N,OTOF
426897,2:26684505:C>T,NM_194248.2:c.5533+59G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,2.101,\N,\N,OTOF
426898,2:26684523:A>C,NM_194248.2:c.5533+41T>G,\N,\N,43/46,Unknown significance,\N,intron_variant,2.579,0.000100301,EXAC_AFR_AF,OTOF
426899,2:26684523:A>T,NM_194248.2:c.5533+41T>A,\N,\N,43/46,Unknown significance,\N,intron_variant,3.454,0.0000151231,EXAC_NFE_AF,OTOF
426900,2:26684526:T>G,NM_194248.2:c.5533+38A>C,\N,\N,43/46,Unknown significance,\N,intron_variant,5.986,0.00017313,EXAC_AMR_AF,OTOF
426901,2:26684533:C>G,NM_194248.2:c.5533+31G>C,\N,\N,43/46,Unknown significance,\N,intron_variant,0.49,0.000463499,EXAC_EAS_AF,OTOF
426902,2:26684535:T>C,NM_194248.2:c.5533+29A>G,\N,\N,43/46,Unknown significance,\N,intron_variant,1.048,0.000242395,EXAC_SAS_AF,OTOF
426903,2:26684540:C>A,NM_194248.2:c.5533+24G>T,\N,\N,43/46,Unknown significance,\N,intron_variant,7.229,0.002,1KG_SAS_AF,OTOF
426904,2:26684553:C>T,NM_194248.2:c.5533+11G>A,\N,\N,43/46,Unknown significance,\N,intron_variant,8.413,0.000060562,EXAC_SAS_AF,OTOF
426905,2:26684558:C>G,NM_194248.2:c.5533+6G>C,\N,\N,43/46,Unknown significance,\N,splice_region_variant&intron_variant,0.451,0.0000150376,EXAC_NFE_AF,OTOF
426906,2:26684559:T>C,NM_194248.2:c.5533+5A>G,\N,\N,43/46,Unknown significance,\N,splice_region_variant&intron_variant,0.448,0.000116279,EVS_EA_AF,OTOF
426907,2:26684573:C>T,NM_194248.2:c.5524G>A,NP_919224.1:p.Asp1842Asn,43/47,\N,Pathogenic,Auditory neuropathy,missense_variant,33,\N,\N,OTOF
426908,2:26684574:G>A,NM_194248.2:c.5523C>T,NP_919224.1:p.Asp1841=,43/47,\N,Unknown significance,\N,synonymous_variant,8.826,0.0014,1KG_AMR_AF,OTOF
426909,2:26684576:CA>C,NM_194248.2:c.5520del,NP_919224.1:p.Asp1841ThrfsTer11,43/47,\N,Unknown significance,\N,frameshift_variant,19.67,0.0000300093,EXAC_NFE_AF,OTOF
426910,2:26684579:C>T,NM_194248.2:c.5518G>A,NP_919224.1:p.Ala1840Thr,43/47,\N,Unknown significance,\N,missense_variant,25.1,0.0000962464,EXAC_AFR_AF,OTOF
426911,2:26684580:G>A,NM_194248.2:c.5517C>T,NP_919224.1:p.Ser1839=,43/47,\N,Unknown significance,\N,synonymous_variant,9.314,0.000060562,EXAC_SAS_AF,OTOF
426912,2:26684592:C>T,NM_194248.2:c.5505G>A,NP_919224.1:p.Ala1835=,43/47,\N,Unknown significance,\N,synonymous_variant,18.1,0.000116279,EVS_EA_AF,OTOF
426913,2:26684593:G>A,NM_194248.2:c.5504C>T,NP_919224.1:p.Ala1835Val,43/47,\N,Unknown significance,\N,missense_variant,26.7,0.000151194,EXAC_FIN_AF,OTOF
426914,2:26684610:G>A,NM_194248.2:c.5487C>T,NP_919224.1:p.Thr1829=,43/47,\N,Unknown significance,\N,synonymous_variant,10.96,0.0000149898,EXAC_NFE_AF,OTOF
426915,2:26684613:G>A,NM_194248.2:c.5484C>T,NP_919224.1:p.Leu1828=,43/47,\N,Unknown significance,\N,synonymous_variant,11.7,0.0000149898,EXAC_NFE_AF,OTOF
426916,2:26684617:C>T,NM_194248.2:c.5480G>A,NP_919224.1:p.Arg1827Gln,43/47,\N,Unknown significance,\N,missense_variant,32,0.000119911,EXAC_NFE_AF,OTOF
426917,2:26684618:G>A,NM_194248.2:c.5479C>T,NP_919224.1:p.Arg1827Trp,43/47,\N,Unknown significance,\N,missense_variant,34,0.000259112,EXAC_AMR_AF,OTOF
426918,2:26684618:G>T,NM_194248.2:c.5479C>A,NP_919224.1:p.Arg1827=,43/47,\N,Unknown significance,\N,synonymous_variant,13.04,0.000581395,EVS_EA_AF,OTOF
426919,2:26684620:G>A,NM_194248.2:c.5477C>T,NP_919224.1:p.Ala1826Val,43/47,\N,Unknown significance,\N,missense_variant,26.2,0.000226963,EVS_AA_AF,OTOF
426920,2:26684621:C>T,NM_194248.2:c.5476G>A,NP_919224.1:p.Ala1826Thr,43/47,\N,Unknown significance,\N,missense_variant,34,\N,\N,OTOF
426921,2:26684622:G>T,NM_194248.2:c.5475C>A,NP_919224.1:p.Pro1825=,43/47,\N,Unknown significance,\N,synonymous_variant,13.82,0.000014988,EXAC_NFE_AF,OTOF
426922,2:26684624:G>C,NM_194248.2:c.5473C>G,NP_919224.1:p.Pro1825Ala,43/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,26.2,\N,\N,OTOF
426923,2:26684625:G>A,NM_194248.2:c.5472C>T,NP_919224.1:p.Ile1824=,43/47,\N,Unknown significance,\N,synonymous_variant,11.74,0.000014988,EXAC_NFE_AF,OTOF
426924,2:26684626:A>T,NM_194248.2:c.5471T>A,NP_919224.1:p.Ile1824Asn,43/47,\N,Unknown significance,\N,missense_variant,32,0.000014988,EXAC_NFE_AF,OTOF
426925,2:26684629:T>C,NM_194248.2:c.5468A>G,NP_919224.1:p.Lys1823Arg,43/47,\N,Unknown significance,\N,missense_variant,24.4,0.000014988,EXAC_NFE_AF,OTOF
426926,2:26684630:T>C,NM_194248.2:c.5467A>G,NP_919224.1:p.Lys1823Glu,43/47,\N,Unknown significance,\N,missense_variant,27.7,0.000116279,EVS_EA_AF,OTOF
426927,2:26684631:G>A,NM_194248.2:c.5466C>T,NP_919224.1:p.Tyr1822=,43/47,\N,Unknown significance,\N,synonymous_variant,6.898,0.000462428,EXAC_EAS_AF,OTOF
426928,2:26684631:G>C,NM_194248.2:c.5466C>G,NP_919224.1:p.Tyr1822Ter,43/47,\N,Pathogenic,Auditory neuropathy,stop_gained,47,\N,\N,OTOF
426929,2:26684636:C>T,NM_194248.2:c.5461G>A,NP_919224.1:p.Glu1821Lys,43/47,\N,Unknown significance,\N,missense_variant,34,0.000431854,EXAC_AMR_AF,OTOF
426930,2:26684637:G>A,NM_194248.2:c.5460C>T,NP_919224.1:p.Thr1820=,43/47,\N,Unknown significance,\N,synonymous_variant,11.2,0.000116279,EVS_EA_AF,OTOF
426931,2:26684637:G>T,NM_194248.2:c.5460C>A,NP_919224.1:p.Thr1820=,43/47,\N,Unknown significance,\N,synonymous_variant,9.529,0.0000149871,EXAC_NFE_AF,OTOF
426932,2:26684642:C>T,NM_194248.2:c.5455G>A,NP_919224.1:p.Glu1819Lys,43/47,\N,Unknown significance,\N,missense_variant,27.8,0.0025,OTO_JP_AF,OTOF
426933,2:26684643:G>A,NM_194248.2:c.5454C>T,NP_919224.1:p.Asp1818=,43/47,\N,Unknown significance,\N,synonymous_variant,9.978,\N,\N,OTOF
426934,2:26684647:C>T,NM_194248.2:c.5450G>A,NP_919224.1:p.Trp1817Ter,43/47,\N,Unknown significance,\N,stop_gained,49,0.0000149867,EXAC_NFE_AF,OTOF
426935,2:26684652:G>A,NM_194248.2:c.5445C>T,NP_919224.1:p.Phe1815=,43/47,\N,Unknown significance,\N,synonymous_variant,13.04,0.0000149858,EXAC_NFE_AF,OTOF
426936,2:26684660:A>G,NM_194248.2:c.5437T>C,NP_919224.1:p.Ser1813Pro,43/47,\N,Unknown significance,\N,missense_variant,32,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426937,2:26684664:C>T,NM_194248.2:c.5433G>A,NP_919224.1:p.Lys1811=,43/47,\N,Unknown significance,\N,synonymous_variant,15.68,\N,\N,OTOF
426938,2:26684666:T>A,NM_194248.2:c.5431A>T,NP_919224.1:p.Lys1811Ter,43/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,45,\N,\N,OTOF
426939,2:26684672:A>C,NM_001287489.1:c.5425T>G,NP_001274418.1:p.Ser1809Ala,43/46,\N,Unknown significance,\N,missense_variant,27.5,0.0000449559,EXAC_NFE_AF,OTOF
426940,2:26684675:T>G,NM_194248.2:c.5422A>C,NP_919224.1:p.Ile1808Leu,43/47,\N,Unknown significance,\N,missense_variant,23,0.0000863707,EXAC_AMR_AF,OTOF
426941,2:26684678:C>T,NM_194248.2:c.5419G>A,NP_919224.1:p.Val1807Ile,43/47,\N,Unknown significance,\N,missense_variant,31,0.000209794,EXAC_NFE_AF,OTOF
426942,2:26684679:G>A,NM_194248.2:c.5418C>T,NP_919224.1:p.Ile1806=,43/47,\N,Benign,\N,synonymous_variant,14.06,0.0565,1KG_EAS_AF,OTOF
426943,2:26684679:G>C,NM_001287489.1:c.5418C>G,NP_001274418.1:p.Ile1806Met,43/46,\N,Unknown significance,\N,missense_variant,19.1,0.0000863707,EXAC_AMR_AF,OTOF
426944,2:26684679:G>T,NM_194248.2:c.5418C>A,NP_919224.1:p.Ile1806=,43/47,\N,Unknown significance,\N,synonymous_variant,11.41,0.0000149853,EXAC_NFE_AF,OTOF
426945,2:26684684:TCTC>T,NM_194248.2:c.5410_5412del,NP_919224.1:p.Glu1804del,43/47,\N,Pathogenic,Auditory neuropathy| temperature-sensitive,inframe_deletion,16,\N,\N,OTOF
426946,2:26684689:T>G,NM_194248.2:c.5408A>C,NP_919224.1:p.Glu1803Ala,43/47,\N,Likely pathogenic,Hearing loss| non-syndromic,missense_variant,23.2,\N,\N,OTOF
426947,2:26684691:C>T,NM_194248.2:c.5406G>A,NP_919224.1:p.Ala1802=,43/47,\N,Unknown significance,\N,synonymous_variant,14.09,0.0000149853,EXAC_NFE_AF,OTOF
426948,2:26684692:G>A,NM_194248.2:c.5405C>T,NP_919224.1:p.Ala1802Val,43/47,\N,Benign,\N,missense_variant,29.6,0.005,OTO_JP_AF,OTOF
426949,2:26684694:C>T,NM_194248.2:c.5403G>A,NP_919224.1:p.Ala1801=,43/47,\N,Unknown significance,\N,synonymous_variant,14.27,0.00161812,EXAC_EAS_AF,OTOF
426950,2:26684695:G>A,NM_194248.2:c.5402C>T,NP_919224.1:p.Ala1801Val,43/47,\N,Unknown significance,\N,missense_variant,18.5,0.000121124,EXAC_SAS_AF,OTOF
426951,2:26684701:T>A,NM_001287489.1:c.5396A>T,NP_001274418.1:p.Tyr1799Phe,43/46,\N,Unknown significance,\N,missense_variant,26.6,0.0000149853,EXAC_NFE_AF,OTOF
426952,2:26684702:A>G,NM_194248.2:c.5395T>C,NP_919224.1:p.Tyr1799His,43/47,\N,Unknown significance,\N,missense_variant,27.4,0.0000149853,EXAC_NFE_AF,OTOF
426953,2:26684703:G>A,NM_194248.2:c.5394C>T,NP_919224.1:p.Asp1798=,43/47,\N,Benign,\N,synonymous_variant,7.174,0.0061,1KG_AFR_AF,OTOF
426954,2:26684706:G>A,NM_194248.2:c.5391C>T,NP_919224.1:p.Phe1797=,43/47,\N,Benign,\N,synonymous_variant,14.55,0.0514,1KG_AFR_AF,OTOF
426955,2:26684709:G>A,NM_194248.2:c.5388C>T,NP_919224.1:p.Pro1796=,43/47,\N,Unknown significance,\N,synonymous_variant,10.58,0.0000149853,EXAC_NFE_AF,OTOF
426956,2:26684713:A>C,NM_194248.2:c.5384T>G,NP_919224.1:p.Phe1795Cys,43/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,28.4,\N,\N,OTOF
426957,2:26684722:C>T,NM_194248.2:c.5375G>A,NP_919224.1:p.Arg1792His,43/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,missense_variant,34,\N,\N,OTOF
426958,2:26684723:G>A,NM_194248.2:c.5374C>T,NP_919224.1:p.Arg1792Cys,43/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
426959,2:26684730:G>A,NM_194248.2:c.5367C>T,NP_919224.1:p.Phe1789=,43/47,\N,Unknown significance,\N,synonymous_variant,12.12,0.0000149853,EXAC_NFE_AF,OTOF
426960,2:26684733:G>A,NM_194248.2:c.5364C>T,NP_919224.1:p.Asn1788=,43/47,\N,Unknown significance,\N,synonymous_variant,8.434,\N,\N,OTOF
426961,2:26684741:C>T,NM_194248.2:c.5356G>A,NP_919224.1:p.Glu1786Lys,43/47,\N,Unknown significance,\N,missense_variant,33,0.000151194,EXAC_FIN_AF,OTOF
426962,2:26684742:G>A,NM_194248.2:c.5355C>T,NP_919224.1:p.Gly1785=,43/47,\N,Unknown significance,\N,synonymous_variant,11.35,0.000116279,EVS_EA_AF,OTOF
426963,2:26684742:G>T,NM_194248.2:c.5355C>A,NP_919224.1:p.Gly1785=,43/47,\N,Unknown significance,\N,synonymous_variant,8.835,0.000060562,EXAC_SAS_AF,OTOF
426964,2:26684746:G>A,NM_194248.2:c.5351C>T,NP_919224.1:p.Thr1784Ile,43/47,\N,Unknown significance,\N,missense_variant,28,0.0000863707,EXAC_AMR_AF,OTOF
426965,2:26684748:G>A,NM_194248.2:c.5349C>T,NP_919224.1:p.Leu1783=,43/47,\N,Unknown significance,\N,synonymous_variant,9.323,0.0000149858,EXAC_NFE_AF,OTOF
426966,2:26684749:A>C,NM_004802.3:c.3047T>G,NP_004793.2:p.Leu1016Arg,26/30,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,OTOF
426967,2:26684754:G>A,NM_194248.2:c.5343C>T,NP_919224.1:p.His1781=,43/47,\N,Unknown significance,\N,synonymous_variant,3.342,0.000302389,EXAC_FIN_AF,OTOF
426968,2:26684754:G>T,NM_004802.3:c.3042C>A,NP_004793.2:p.His1014Gln,26/30,\N,Unknown significance,\N,missense_variant,12.26,0.000116279,EVS_EA_AF,OTOF
426969,2:26684755:T>G,NM_194248.2:c.5342A>C,NP_919224.1:p.His1781Pro,43/47,\N,Unknown significance,\N,missense_variant,21.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426970,2:26684765:C>A,NM_194248.2:c.5332G>T,NP_919224.1:p.Val1778Phe,43/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,missense_variant,34,0.000348837,EVS_EA_AF,OTOF
426971,2:26684765:C>T,NM_194248.2:c.5332G>A,NP_919224.1:p.Val1778Ile,43/47,\N,Likely pathogenic,Hearing loss| non-syndromic,missense_variant,23.1,0.000044964,EXAC_NFE_AF,OTOF
426972,2:26684766:G>A,NM_194248.2:c.5331C>T,NP_919224.1:p.Asp1777=,43/47,\N,Unknown significance,\N,synonymous_variant,11.08,0.0014683,EXAC_AMR_AF,OTOF
426973,2:26684774:C>G,NM_194248.2:c.5323G>C,NP_919224.1:p.Asp1775His,43/47,\N,Unknown significance,\N,missense_variant,29.4,0.0000449681,EXAC_NFE_AF,OTOF
426974,2:26684775:C>T,NM_194248.2:c.5322G>A,NP_919224.1:p.Gln1774=,43/47,\N,Unknown significance,\N,synonymous_variant,12.39,0.0000149889,EXAC_NFE_AF,OTOF
426975,2:26684781:GTCC>G,NM_194248.2:c.5313_5315del,NP_919224.1:p.Glu1771del,43/47,\N,Unknown significance,\N,inframe_deletion,21,0.0000863707,EXAC_AMR_AF,OTOF
426976,2:26684784:C>T,NM_194248.2:c.5313G>A,NP_919224.1:p.Glu1771=,43/47,\N,Unknown significance,\N,synonymous_variant,14.84,0.00110375,EXAC_OTH_AF,OTOF
426977,2:26684786:C>T,NM_194322.2:c.3241G>A,NP_919303.1:p.Glu1081Lys,25/29,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,OTOF
426978,2:26684795:C>T,NM_004802.3:c.3001G>A,NP_004793.2:p.Gly1001Ser,26/30,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,OTOF
426979,2:26684802:C>A,NM_194248.2:c.5295G>T,NP_919224.1:p.Trp1765Cys,43/47,\N,Unknown significance,\N,missense_variant,34,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426980,2:26684804:A>C,NM_194248.2:c.5293T>G,NP_919224.1:p.Trp1765Gly,43/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
426981,2:26684813:C>T,NM_194248.2:c.5292-8G>A,\N,\N,42/46,Unknown significance,\N,splice_region_variant&intron_variant,0.283,0.000226963,EVS_AA_AF,OTOF
426982,2:26684814:G>A,NM_194248.2:c.5292-9C>T,\N,\N,42/46,Unknown significance,\N,intron_variant,1.466,0.00226963,EVS_AA_AF,OTOF
426983,2:26684815:C>T,NM_194248.2:c.5292-10G>A,\N,\N,42/46,Unknown significance,\N,intron_variant,5.069,0.0000900009,EXAC_NFE_AF,OTOF
426984,2:26684827:A>C,NM_194248.2:c.5292-22T>G,\N,\N,42/46,Benign,\N,intron_variant,2.296,0.005,OTO_TR_AF,OTOF
426985,2:26684830:C>A,NM_194248.2:c.5292-25G>T,\N,\N,42/46,Unknown significance,\N,intron_variant,1.973,0.000060562,EXAC_SAS_AF,OTOF
426986,2:26684830:C>T,NM_194248.2:c.5292-25G>A,\N,\N,42/46,Unknown significance,\N,intron_variant,1.986,0.0000864155,EXAC_AMR_AF,OTOF
426987,2:26684838:G>A,NM_194248.2:c.5292-33C>T,\N,\N,42/46,Unknown significance,\N,intron_variant,3.365,0.0000300228,EXAC_NFE_AF,OTOF
426988,2:26684843:GT>G,NM_194248.2:c.5292-39del,\N,\N,42/46,Unknown significance,\N,intron_variant,0.095,0.0000300318,EXAC_NFE_AF,OTOF
426989,2:26684846:G>C,NM_194248.2:c.5292-41C>G,\N,\N,42/46,Benign,\N,intron_variant,1.794,0.005,OTO_TR_AF,OTOF
426990,2:26684855:C>T,NM_194248.2:c.5292-50G>A,\N,\N,42/46,Unknown significance,\N,intron_variant,11.45,0.000115634,EXAC_EAS_AF,OTOF
426991,2:26684857:A>C,NM_194248.2:c.5292-52T>G,\N,\N,42/46,Benign,\N,intron_variant,4.328,0.005,OTO_TR_AF,OTOF
426992,2:26684907:C>T,NM_194248.2:c.5291+44G>A,\N,\N,42/46,Unknown significance,\N,intron_variant,0.527,0.000231911,EXAC_EAS_AF,OTOF
426993,2:26684908:C>A,NM_194248.2:c.5291+43G>T,\N,\N,42/46,Unknown significance,\N,intron_variant,4.453,\N,\N,OTOF
426994,2:26684911:A>C,NM_194248.2:c.5291+40T>G,\N,\N,42/46,Unknown significance,\N,intron_variant,0.026,\N,\N,OTOF
426995,2:26684911:A>T,NM_194248.2:c.5291+40T>A,\N,\N,42/46,Unknown significance,\N,intron_variant,0.047,\N,\N,OTOF
426996,2:26684912:C>G,NM_194248.2:c.5291+39G>C,\N,\N,42/46,Unknown significance,\N,intron_variant,2.978,0.0008,1KG_AFR_AF,OTOF
426997,2:26684924:C>T,NM_194248.2:c.5291+27G>A,\N,\N,42/46,Unknown significance,\N,intron_variant,6.038,0.001,1KG_EUR_AF,OTOF
426998,2:26684928:C>A,NM_194248.2:c.5291+23G>T,\N,\N,42/46,Unknown significance,\N,intron_variant,1.653,0.0008,1KG_AFR_AF,OTOF
426999,2:26684933:C>G,NM_194248.2:c.5291+18G>C,\N,\N,42/46,Unknown significance,\N,intron_variant,0.331,\N,\N,OTOF
427000,2:26684945:A>C,NM_194248.2:c.5291+6T>G,\N,\N,42/46,Unknown significance,\N,splice_region_variant&intron_variant,4.31,0.0000150132,EXAC_NFE_AF,OTOF
427001,2:26684946:C>T,NM_194248.2:c.5291+5G>A,\N,\N,42/46,Unknown significance,\N,splice_region_variant&intron_variant,13.78,0.00277778,OTO_ES_AF,OTOF
427002,2:26684949:A>AC,NM_194248.2:c.5291+1dup,\N,\N,42/46,Unknown significance,\N,splice_donor_variant,24.7,0.0000865651,EXAC_AMR_AF,OTOF
427003,2:26684949:A>C,NM_194248.2:c.5291+2T>G,\N,\N,42/46,Unknown significance,\N,splice_donor_variant,23.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427004,2:26684950:C>A,NM_194248.2:c.5291+1G>T,\N,\N,42/46,Unknown significance,\N,splice_donor_variant,25.4,0.000116009,EXAC_EAS_AF,OTOF
427005,2:26684950:C>G,NM_194248.2:c.5291+1G>C,\N,\N,42/46,Unknown significance,\N,splice_donor_variant,24.9,0.0000150146,EXAC_NFE_AF,OTOF
427006,2:26684953:C>G,NM_194248.2:c.5289G>C,NP_919224.1:p.Arg1763Ser,42/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.5,0.000232019,EXAC_EAS_AF,OTOF
427007,2:26684958:C>A,NM_194248.2:c.5284G>T,NP_919224.1:p.Val1762Leu,42/47,\N,Unknown significance,\N,missense_variant,34,0.0000965437,EXAC_AFR_AF,OTOF
427008,2:26684958:C>T,NM_194248.2:c.5284G>A,NP_919224.1:p.Val1762Met,42/47,\N,Unknown significance,\N,missense_variant,34,0.00017313,EXAC_AMR_AF,OTOF
427009,2:26684962:G>A,NM_194248.2:c.5280C>T,NP_919224.1:p.Ile1760=,42/47,\N,Unknown significance,\N,synonymous_variant,13.52,0.000666424,EXAC_SAS_AF,OTOF
427010,2:26684981:C>T,NM_194248.2:c.5261G>A,NP_919224.1:p.Gly1754Glu,42/47,\N,Unknown significance,\N,missense_variant,34,0.000231911,EXAC_EAS_AF,OTOF
427011,2:26684986:G>A,NM_194248.2:c.5256C>T,NP_919224.1:p.Phe1752=,42/47,\N,Unknown significance,\N,synonymous_variant,12.75,0.000453926,EVS_AA_AF,OTOF
427012,2:26684994:C>T,NM_194248.2:c.5248G>A,NP_919224.1:p.Asp1750Asn,42/47,\N,Unknown significance,\N,missense_variant,23.9,0.0000150101,EXAC_NFE_AF,OTOF
427013,2:26684997:C>T,NM_194248.2:c.5245G>A,NP_919224.1:p.Asp1749Asn,42/47,\N,Unknown significance,\N,missense_variant,35,0.00110375,EXAC_OTH_AF,OTOF
427014,2:26684998:G>A,NM_194248.2:c.5244C>T,NP_919224.1:p.Asp1748=,42/47,\N,Unknown significance,\N,synonymous_variant,11.61,0.0000150096,EXAC_NFE_AF,OTOF
427015,2:26684999:T>A,NM_194248.2:c.5243A>T,NP_919224.1:p.Asp1748Val,42/47,\N,Unknown significance,\N,missense_variant,28.9,\N,\N,OTOF
427016,2:26685009:C>T,NM_194248.2:c.5233G>A,NP_919224.1:p.Val1745Ile,42/47,\N,Unknown significance,\N,missense_variant,15.04,0.000116279,EVS_EA_AF,OTOF
427017,2:26685010:C>G,NM_194248.2:c.5232G>C,NP_919224.1:p.Val1744=,42/47,\N,Unknown significance,\N,synonymous_variant,12.8,0.0000150096,EXAC_NFE_AF,OTOF
427018,2:26685011:A>G,NM_194323.2:c.2930T>C,NP_919304.1:p.Val977Ala,25/29,\N,Unknown significance,\N,missense_variant,29.2,0.0000150096,EXAC_NFE_AF,OTOF
427019,2:26685011:A>C,NM_194322.2:c.3161T>G,NP_919303.1:p.Val1054Gly,24/29,\N,Unknown significance,\N,missense_variant,28.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427020,2:26685013:C>T,NM_194248.2:c.5229G>A,NP_919224.1:p.Glu1743=,42/47,\N,Unknown significance,\N,synonymous_variant,14.65,0.0008,1KG_AFR_AF,OTOF
427021,2:26685016:A>C,NM_194248.2:c.5226T>G,NP_919224.1:p.Asp1742Glu,42/47,\N,Likely benign,\N,missense_variant,22.1,\N,\N,OTOF
427022,2:26685022:G>A,NM_194248.2:c.5220C>T,NP_919224.1:p.Asn1740=,42/47,\N,Unknown significance,\N,synonymous_variant,10.15,0.000226963,EVS_AA_AF,OTOF
427023,2:26685025:C>T,NM_194248.2:c.5217G>A,NP_919224.1:p.Trp1739Ter,42/47,\N,Unknown significance,\N,stop_gained,48,0.0000150123,EXAC_NFE_AF,OTOF
427024,2:26685034:G>A,NM_194248.2:c.5208C>T,NP_919224.1:p.Val1736=,42/47,\N,Unknown significance,\N,synonymous_variant,12.92,0.0008,1KG_AFR_AF,OTOF
427025,2:26685038:CG>C,NM_194248.2:c.5203del,NP_919224.1:p.Arg1735GlyfsTer28,42/47,\N,Pathogenic,Hearing loss| non-syndromic,frameshift_variant,36,0.000115902,EXAC_EAS_AF,OTOF
427026,2:26685038:C>T,NM_194248.2:c.5204G>A,NP_919224.1:p.Arg1735Gln,42/47,\N,Unknown significance,\N,missense_variant,35,0.00277778,OTO_ES_AF,OTOF
427027,2:26685040:C>T,NM_194248.2:c.5202G>A,NP_919224.1:p.Leu1734=,42/47,\N,Unknown significance,\N,synonymous_variant,14.04,0.0000750863,EXAC_NFE_AF,OTOF
427028,2:26685045:C>T,NM_194248.2:c.5197G>A,NP_919224.1:p.Glu1733Lys,42/47,\N,Pathogenic,Deafness| autosomal recessive 9,missense_variant,35,0.000115982,EXAC_EAS_AF,OTOF
427029,2:26685046:G>A,NM_194248.2:c.5196C>T,NP_919224.1:p.Tyr1732=,42/47,\N,Unknown significance,\N,synonymous_variant,9.294,0.0015,1KG_AFR_AF,OTOF
427030,2:26685050:C>T,NM_194248.2:c.5193-1G>A,\N,\N,41/46,Likely pathogenic,Deafness| autosomal recessive 9,splice_acceptor_variant,24.6,\N,\N,OTOF
427031,2:26685059:G>T,NM_194248.2:c.5193-10C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,9.93,0.0000150295,EXAC_NFE_AF,OTOF
427032,2:26685065:G>A,NM_194248.2:c.5193-16C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,1.085,0.0008,1KG_AFR_AF,OTOF
427033,2:26685075:T>G,NM_194248.2:c.5193-26A>C,\N,\N,41/46,Unknown significance,\N,intron_variant,3.603,0.0000150394,EXAC_NFE_AF,OTOF
427034,2:26685083:C>A,NM_194248.2:c.5193-34G>T,\N,\N,41/46,Unknown significance,\N,intron_variant,3.503,0.0000601956,EXAC_NFE_AF,OTOF
427035,2:26685087:G>T,NM_194248.2:c.5193-38C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,2.11,0.000453926,EVS_AA_AF,OTOF
427036,2:26685091:G>A,NM_194248.2:c.5193-42C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,6.226,0.001,1KG_EAS_AF,OTOF
427037,2:26685099:C>G,NM_194248.2:c.5193-50G>C,\N,\N,41/46,Unknown significance,\N,intron_variant,5.894,0.0000301823,EXAC_NFE_AF,OTOF
427038,2:26685118:A>G,NM_194248.2:c.5193-69T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,11.67,0.002,1KG_SAS_AF,OTOF
427039,2:26685230:C>T,NM_194248.2:c.5193-181G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,0.867,0.002,1KG_EUR_AF,OTOF
427040,2:26685238:G>C,NM_194248.2:c.5193-189C>G,\N,\N,41/46,Unknown significance,\N,intron_variant,5.001,0.001,1KG_EUR_AF,OTOF
427041,2:26685247:T>A,NM_194248.2:c.5193-198A>T,\N,\N,41/46,Unknown significance,\N,intron_variant,6.649,0.002,1KG_EUR_AF,OTOF
427042,2:26685253:C>T,NM_194248.2:c.5193-204G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.012,0.002,1KG_EAS_AF,OTOF
427043,2:26685260:G>A,NM_194248.2:c.5193-211C>T,\N,\N,41/46,Benign,\N,intron_variant,0.311,0.0194,1KG_SAS_AF,OTOF
427044,2:26685335:C>G,NM_194248.2:c.5193-286G>C,\N,\N,41/46,Unknown significance,\N,intron_variant,3.628,0.0023,1KG_AFR_AF,OTOF
427045,2:26685345:A>AAG,NM_194248.2:c.5193-298_5193-297dup,\N,\N,41/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427046,2:26685358:C>A,NM_194248.2:c.5193-309G>T,\N,\N,41/46,Unknown significance,\N,intron_variant,7.36,\N,\N,OTOF
427047,2:26685377:A>G,NM_194248.2:c.5193-328T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,1.192,\N,\N,OTOF
427048,2:26685384:T>A,NM_194248.2:c.5193-335A>T,\N,\N,41/46,Unknown significance,\N,intron_variant,6.01,\N,\N,OTOF
427049,2:26685396:G>A,NM_194248.2:c.5193-347C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,5.164,\N,\N,OTOF
427050,2:26685400:T>G,NM_194248.2:c.5193-351A>C,\N,\N,41/46,Unknown significance,\N,intron_variant,5.275,0.001,1KG_EAS_AF,OTOF
427051,2:26685407:A>C,NM_194248.2:c.5193-358T>G,\N,\N,41/46,Benign,\N,intron_variant,0.247,0.2171,1KG_AFR_AF,OTOF
427052,2:26685433:A>G,NM_194248.2:c.5193-384T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,4.147,\N,\N,OTOF
427053,2:26685440:AGAGT>A,NM_194248.2:c.5193-395_5193-392del,\N,\N,41/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427054,2:26685461:C>T,NM_194248.2:c.5193-412G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,6.689,0.002,1KG_EAS_AF,OTOF
427055,2:26685471:A>T,NM_194248.2:c.5193-422T>A,\N,\N,41/46,Unknown significance,\N,intron_variant,2.412,0.001,1KG_SAS_AF,OTOF
427056,2:26685475:G>A,NM_194248.2:c.5193-426C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.561,0.001,1KG_EUR_AF,OTOF
427057,2:26685503:G>A,NM_194248.2:c.5193-454C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.128,0.002,1KG_EUR_AF,OTOF
427058,2:26685504:G>A,NM_194248.2:c.5193-455C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.74,0.0014,1KG_AMR_AF,OTOF
427059,2:26685510:G>A,NM_194248.2:c.5193-461C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,1.777,0.0038,1KG_AFR_AF,OTOF
427060,2:26685517:G>C,NM_194248.2:c.5193-468C>G,\N,\N,41/46,Unknown significance,\N,intron_variant,1.428,0.001,1KG_EAS_AF,OTOF
427061,2:26685573:T>C,NM_194248.2:c.5193-524A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,0.663,\N,\N,OTOF
427062,2:26685624:G>A,NM_194248.2:c.5193-575C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,2.145,\N,\N,OTOF
427063,2:26685633:G>A,NM_194248.2:c.5193-584C>T,\N,\N,41/46,Benign,\N,intron_variant,1.806,0.1349,1KG_EAS_AF,OTOF
427064,2:26685637:A>G,NM_194248.2:c.5193-588T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,0.92,\N,\N,OTOF
427065,2:26685664:A>C,NM_194248.2:c.5193-615T>G,\N,\N,41/46,Unknown significance,\N,intron_variant,1.607,\N,\N,OTOF
427066,2:26685668:A>G,NM_194248.2:c.5193-619T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,4.648,0.0008,1KG_AFR_AF,OTOF
427067,2:26685680:CA>C,NM_194248.2:c.5193-632del,\N,\N,41/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427068,2:26685765:C>T,NM_194248.2:c.5192+586G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,5.998,0.0014,1KG_AMR_AF,OTOF
427069,2:26685798:GAA>G,NM_194248.2:c.5192+551_5192+552del,\N,\N,41/46,Unknown significance,\N,intron_variant,1.519,0.0041,1KG_SAS_AF,OTOF
427070,2:26685850:T>C,NM_194248.2:c.5192+501A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,3.826,\N,\N,OTOF
427071,2:26685865:T>A,NM_194248.2:c.5192+486A>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.15,\N,\N,OTOF
427072,2:26685893:G>C,NM_194248.2:c.5192+458C>G,\N,\N,41/46,Benign,\N,intron_variant,2.054,0.008,1KG_EUR_AF,OTOF
427073,2:26685895:A>G,NM_194248.2:c.5192+456T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,7.331,0.0041,1KG_SAS_AF,OTOF
427074,2:26685921:T>C,NM_194248.2:c.5192+430A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,2.93,\N,\N,OTOF
427075,2:26685943:G>A,NM_194248.2:c.5192+408C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.995,0.0041,1KG_SAS_AF,OTOF
427076,2:26685958:G>A,NM_194248.2:c.5192+393C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,1.542,0.0038,1KG_AFR_AF,OTOF
427077,2:26685968:G>A,NM_194248.2:c.5192+383C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,0.318,0.001,1KG_EUR_AF,OTOF
427078,2:26685978:G>T,NM_194248.2:c.5192+373C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,0.991,\N,\N,OTOF
427079,2:26685981:T>C,NM_194248.2:c.5192+370A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,0.242,\N,\N,OTOF
427080,2:26685996:G>A,NM_194248.2:c.5192+355C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,0.184,0.0041,1KG_SAS_AF,OTOF
427081,2:26686003:T>G,NM_194248.2:c.5192+348A>C,\N,\N,41/46,Unknown significance,\N,intron_variant,7.186,0.002,1KG_EAS_AF,OTOF
427082,2:26686006:T>C,NM_194248.2:c.5192+345A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,4.024,0.002,1KG_SAS_AF,OTOF
427083,2:26686010:CTG>C,NM_194248.2:c.5192+339_5192+340del,\N,\N,41/46,Unknown significance,\N,intron_variant,5.581,\N,\N,OTOF
427084,2:26686022:G>T,NM_194248.2:c.5192+329C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,5.23,0.001,1KG_SAS_AF,OTOF
427085,2:26686025:T>G,NM_194248.2:c.5192+326A>C,\N,\N,41/46,Unknown significance,\N,intron_variant,6.286,0.0014,1KG_AMR_AF,OTOF
427086,2:26686032:G>A,NM_194248.2:c.5192+319C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,5.348,\N,\N,OTOF
427087,2:26686037:A>G,NM_194248.2:c.5192+314T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,4.18,\N,\N,OTOF
427088,2:26686047:G>T,NM_194248.2:c.5192+304C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,2.199,\N,\N,OTOF
427089,2:26686048:C>T,NM_194248.2:c.5192+303G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.198,\N,\N,OTOF
427090,2:26686051:G>A,NM_194248.2:c.5192+300C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,0.901,\N,\N,OTOF
427091,2:26686054:G>A,NM_194248.2:c.5192+297C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,0.116,\N,\N,OTOF
427092,2:26686058:G>A,NM_194248.2:c.5192+293C>T,\N,\N,41/46,Benign,\N,intron_variant,0.329,0.0749,1KG_AFR_AF,OTOF
427093,2:26686058:G>C,NM_194248.2:c.5192+293C>G,\N,\N,41/46,Unknown significance,\N,intron_variant,0.072,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
427094,2:26686064:A>T,NM_194248.2:c.5192+287T>A,\N,\N,41/46,Benign,\N,intron_variant,0.279,0.0276,1KG_SAS_AF,OTOF
427095,2:26686073:A>G,NM_194248.2:c.5192+278T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,2.058,0.001,1KG_EUR_AF,OTOF
427096,2:26686075:C>T,NM_194248.2:c.5192+276G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.319,0.0015,1KG_AFR_AF,OTOF
427097,2:26686077:G>A,NM_194248.2:c.5192+274C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,2.467,0.001,1KG_SAS_AF,OTOF
427098,2:26686101:C>T,NM_194248.2:c.5192+250G>A,\N,\N,41/46,Benign,\N,intron_variant,3.6,0.1278,1KG_AFR_AF,OTOF
427099,2:26686139:A>G,NM_194248.2:c.5192+212T>C,\N,\N,41/46,Unknown significance,\N,intron_variant,2.74,0.0008,1KG_AFR_AF,OTOF
427100,2:26686143:C>T,NM_194248.2:c.5192+208G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,3.262,0.001,1KG_SAS_AF,OTOF
427101,2:26686168:T>C,NM_194248.2:c.5192+183A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,1.855,0.001,1KG_SAS_AF,OTOF
427102,2:26686178:C>T,NM_194248.2:c.5192+173G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.677,\N,\N,OTOF
427103,2:26686201:CT>C,NM_194248.2:c.5192+149del,\N,\N,41/46,Unknown significance,\N,intron_variant,2.993,\N,\N,OTOF
427104,2:26686227:G>A,NM_194248.2:c.5192+124C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.274,\N,\N,OTOF
427105,2:26686230:C>A,NM_194248.2:c.5192+121G>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.246,\N,\N,OTOF
427106,2:26686271:C>G,NM_194248.2:c.5192+80G>C,\N,\N,41/46,Benign,\N,intron_variant,2.371,0.0188,1KG_EAS_AF,OTOF
427107,2:26686274:G>T,NM_194248.2:c.5192+77C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,0.058,\N,\N,OTOF
427108,2:26686290:C>T,NM_194248.2:c.5192+61G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,4.108,0.002,1KG_SAS_AF,OTOF
427109,2:26686291:G>A,NM_194248.2:c.5192+60C>T,\N,\N,41/46,Benign,\N,intron_variant,0.664,0.0086,1KG_AMR_AF,OTOF
427110,2:26686291:G>T,NM_194248.2:c.5192+60C>A,\N,\N,41/46,Unknown significance,\N,intron_variant,0.281,\N,\N,OTOF
427111,2:26686306:T>C,NM_194248.2:c.5192+45A>G,\N,\N,41/46,Unknown significance,\N,intron_variant,5.539,\N,\N,OTOF
427112,2:26686316:C>T,NM_194248.2:c.5192+35G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.453,0.002,1KG_SAS_AF,OTOF
427113,2:26686317:G>A,NM_194248.2:c.5192+34C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,2.163,0.001,1KG_EUR_AF,OTOF
427114,2:26686317:G>C,NM_194248.2:c.5192+34C>G,\N,\N,41/46,Unknown significance,\N,intron_variant,0.487,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,OTOF
427115,2:26686329:C>T,NM_194248.2:c.5192+22G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,2.651,0.000069891,EXAC_NFE_AF,OTOF
427116,2:26686330:G>A,NM_194248.2:c.5192+21C>T,\N,\N,41/46,Unknown significance,\N,intron_variant,0.684,0.0000682035,EXAC_NFE_AF,OTOF
427117,2:26686333:G>C,NM_194248.2:c.5192+18C>G,\N,\N,41/46,Unknown significance,\N,intron_variant,3.001,\N,\N,OTOF
427118,2:26686338:C>A,NM_194248.2:c.5192+13G>T,\N,\N,41/46,Unknown significance,\N,intron_variant,4.615,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427119,2:26686339:C>T,NM_194248.2:c.5192+12G>A,\N,\N,41/46,Unknown significance,\N,intron_variant,1.745,0.000112892,EXAC_SAS_AF,OTOF
427120,2:26686344:C>T,NM_194248.2:c.5192+7G>A,\N,\N,41/46,Unknown significance,\N,splice_region_variant&intron_variant,6.32,0.000250376,EXAC_AFR_AF,OTOF
427121,2:26686361:T>C,NM_194248.2:c.5182A>G,NP_919224.1:p.Lys1728Glu,41/47,\N,Unknown significance,\N,missense_variant,29.1,0.000549451,EXAC_AMR_AF,OTOF
427122,2:26686363:C>G,NM_194248.2:c.5180G>C,NP_919224.1:p.Arg1727Pro,41/47,\N,Unknown significance,\N,missense_variant,35,0.000264271,EXAC_EAS_AF,OTOF
427123,2:26686363:C>T,NM_194248.2:c.5180G>A,NP_919224.1:p.Arg1727Gln,41/47,\N,Unknown significance,\N,missense_variant,35,0.000203459,EXAC_SAS_AF,OTOF
427124,2:26686364:G>A,NM_194248.2:c.5179C>T,NP_919224.1:p.Arg1727Trp,41/47,\N,Unknown significance,\N,missense_variant,34,0.000248297,EXAC_NFE_AF,OTOF
427125,2:26686366:G>T,NM_194248.2:c.5177C>A,NP_919224.1:p.Pro1726His,41/47,\N,Unknown significance,\N,missense_variant,29.7,0.0000340391,EXAC_NFE_AF,OTOF
427126,2:26686367:G>A,NM_194248.2:c.5176C>T,NP_919224.1:p.Pro1726Ser,41/47,\N,Unknown significance,\N,missense_variant,32,0.0000993443,EXAC_SAS_AF,OTOF
427127,2:26686368:T>G,NM_194248.2:c.5175A>C,NP_919224.1:p.Ser1725=,41/47,\N,Unknown significance,\N,synonymous_variant,7.181,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427128,2:26686370:A>C,NM_194248.2:c.5173T>G,NP_919224.1:p.Ser1725Ala,41/47,\N,Unknown significance,\N,missense_variant,23.5,0.000231696,EXAC_EAS_AF,OTOF
427129,2:26686382:G>A,NM_194248.2:c.5161C>T,NP_919224.1:p.Pro1721Ser,41/47,\N,Unknown significance,\N,missense_variant,20.6,\N,\N,OTOF
427130,2:26686383:C>T,NM_194248.2:c.5160G>A,NP_919224.1:p.Thr1720=,41/47,\N,Unknown significance,\N,synonymous_variant,18.09,0.000145121,EXAC_NFE_AF,OTOF
427131,2:26686384:G>A,NM_194248.2:c.5159C>T,NP_919224.1:p.Thr1720Met,41/47,\N,Unknown significance,\N,missense_variant,32,0.00469748,EXAC_SAS_AF,OTOF
427132,2:26686396:G>A,NM_001287489.1:c.5147C>T,NP_001274418.1:p.Pro1716Leu,41/46,\N,Unknown significance,\N,missense_variant,29.9,0.0000924214,EXAC_SAS_AF,OTOF
427133,2:26686397:G>A,NM_194248.2:c.5146C>T,NP_919224.1:p.Pro1716Ser,41/47,\N,Unknown significance,\N,missense_variant,24.4,0.000166556,EXAC_AFR_AF,OTOF
427134,2:26686398:C>A,NM_194248.2:c.5145G>T,NP_919224.1:p.Met1715Ile,41/47,\N,Unknown significance,\N,missense_variant,23.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427135,2:26686399:A>G,NM_194248.2:c.5144T>C,NP_919224.1:p.Met1715Thr,41/47,\N,Unknown significance,\N,missense_variant,23.9,0.0000272064,EXAC_NFE_AF,OTOF
427136,2:26686405:A>G,NM_194248.2:c.5138T>C,NP_919224.1:p.Met1713Thr,41/47,\N,Unknown significance,\N,missense_variant,12.96,0.000227066,EVS_AA_AF,OTOF
427137,2:26686405:A>T,NM_194248.2:c.5138T>A,NP_919224.1:p.Met1713Lys,41/47,\N,Unknown significance,\N,missense_variant,16.78,\N,\N,OTOF
427138,2:26686413:C>T,NM_194248.2:c.5130G>A,NP_919224.1:p.Met1710Ile,41/47,\N,Unknown significance,\N,missense_variant,23.7,0.0000290985,EXAC_NFE_AF,OTOF
427139,2:26686414:A>G,NM_001287489.1:c.5129T>C,NP_001274418.1:p.Met1710Thr,41/46,\N,Unknown significance,\N,missense_variant,23.9,0.0008,1KG_AFR_AF,OTOF
427140,2:26686415:T>G,NM_194248.2:c.5128A>C,NP_919224.1:p.Met1710Leu,41/47,\N,Unknown significance,\N,missense_variant,24.3,0.0015,1KG_AFR_AF,OTOF
427141,2:26686417:T>C,NM_001287489.1:c.5126A>G,NP_001274418.1:p.Asp1709Gly,41/46,\N,Unknown significance,\N,missense_variant,29.5,0.000505051,EXAC_FIN_AF,OTOF
427142,2:26686428:C>T,NM_194248.2:c.5115G>A,NP_919224.1:p.Glu1705=,41/47,\N,Unknown significance,\N,synonymous_variant,14.23,0.000454133,EVS_AA_AF,OTOF
427143,2:26686435:C>T,NM_194248.2:c.5108G>A,NP_919224.1:p.Arg1703His,41/47,\N,Unknown significance,\N,missense_variant,35,0.000395101,EXAC_SAS_AF,OTOF
427144,2:26686436:G>A,NM_194248.2:c.5107C>T,NP_919224.1:p.Arg1703Cys,41/47,\N,Unknown significance,\N,missense_variant,35,\N,\N,OTOF
427145,2:26686441:T>TGA,NM_194248.2:c.5104-4_5104-3dup,\N,\N,40/46,Unknown significance,\N,splice_region_variant&intron_variant,16.23,\N,\N,OTOF
427146,2:26686442:G>A,NM_194248.2:c.5104-3C>T,\N,\N,40/46,Unknown significance,\N,splice_region_variant&intron_variant,15.35,0.000100705,EXAC_SAS_AF,OTOF
427147,2:26686452:G>A,NM_194248.2:c.5104-13C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,12.84,0.000285714,EXAC_AMR_AF,OTOF
427148,2:26686453:T>C,NM_194248.2:c.5104-14A>G,\N,\N,40/46,Unknown significance,\N,intron_variant,8.064,\N,\N,OTOF
427149,2:26686479:C>T,NM_194248.2:c.5104-40G>A,\N,\N,40/46,Unknown significance,\N,intron_variant,11.41,0.0000693001,EXAC_NFE_AF,OTOF
427150,2:26686485:G>A,NM_194248.2:c.5104-46C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,12.29,0.001,1KG_SAS_AF,OTOF
427151,2:26686487:C>T,NM_194248.2:c.5104-48G>A,\N,\N,40/46,Unknown significance,\N,intron_variant,13.68,0.0000749064,EXAC_NFE_AF,OTOF
427152,2:26686502:C>G,NM_194248.2:c.5104-63G>C,\N,\N,40/46,Unknown significance,\N,intron_variant,12.5,\N,\N,OTOF
427153,2:26686508:T>G,NM_194248.2:c.5104-69A>C,\N,\N,40/46,Unknown significance,\N,intron_variant,12.23,\N,\N,OTOF
427154,2:26686528:G>T,NM_194248.2:c.5104-89C>A,\N,\N,40/46,Unknown significance,\N,intron_variant,11.11,\N,\N,OTOF
427155,2:26686590:T>C,NM_194248.2:c.5104-151A>G,\N,\N,40/46,Unknown significance,\N,intron_variant,10.7,\N,\N,OTOF
427156,2:26686637:C>T,NM_194248.2:c.5103+195G>A,\N,\N,40/46,Benign,\N,intron_variant,8.437,0.0741,1KG_AFR_AF,OTOF
427157,2:26686642:G>A,NM_194248.2:c.5103+190C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,4.153,0.001,1KG_SAS_AF,OTOF
427158,2:26686663:G>A,NM_194248.2:c.5103+169C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,3.899,0.002,1KG_SAS_AF,OTOF
427159,2:26686686:T>C,NM_194248.2:c.5103+146A>G,\N,\N,40/46,Unknown significance,\N,intron_variant,1.721,0.002,1KG_EUR_AF,OTOF
427160,2:26686706:G>C,NM_194248.2:c.5103+126C>G,\N,\N,40/46,Benign,\N,intron_variant,2.592,0.0545,1KG_AFR_AF,OTOF
427161,2:26686708:G>T,NM_194248.2:c.5103+124C>A,\N,\N,40/46,Unknown significance,\N,intron_variant,0.472,0.0008,1KG_AFR_AF,OTOF
427162,2:26686733:C>T,NM_194248.2:c.5103+99G>A,\N,\N,40/46,Unknown significance,\N,intron_variant,3.126,\N,\N,OTOF
427163,2:26686734:G>A,NM_194248.2:c.5103+98C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,3.164,\N,\N,OTOF
427164,2:26686741:G>A,NM_194248.2:c.5103+91C>T,\N,\N,40/46,Unknown significance,\N,intron_variant,1.112,0.001,1KG_EUR_AF,OTOF
427165,2:26686747:C>G,NM_194248.2:c.5103+85G>C,\N,\N,40/46,Benign,\N,intron_variant,2.892,0.0053,1KG_AFR_AF,OTOF
427166,2:26686756:T>C,NM_194248.2:c.5103+76A>G,\N,\N,40/46,Unknown significance,\N,intron_variant,3.989,0.001,1KG_EAS_AF,OTOF
427167,2:26686773:G>C,NM_194248.2:c.5103+59C>G,\N,\N,40/46,Unknown significance,\N,intron_variant,0.071,0.001,1KG_EAS_AF,OTOF
427168,2:26686782:C>A,NM_194248.2:c.5103+50G>T,\N,\N,40/46,Unknown significance,\N,intron_variant,8.191,0.0000991277,EXAC_AFR_AF,OTOF
427169,2:26686787:G>C,NM_194248.2:c.5103+45C>G,\N,\N,40/46,Benign,\N,intron_variant,0.484,0.0537,1KG_AFR_AF,OTOF
427170,2:26686791:C>T,NM_194248.2:c.5103+41G>A,\N,\N,40/46,Benign,\N,intron_variant,5.717,0.00510678,EXAC_EAS_AF,OTOF
427171,2:26686792:C>T,NM_194248.2:c.5103+40G>A,\N,\N,40/46,Unknown significance,\N,intron_variant,4.041,0.0000864454,EXAC_AMR_AF,OTOF
427172,2:26686796:A>C,NM_194248.2:c.5103+36T>G,\N,\N,40/46,Unknown significance,\N,intron_variant,1.43,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427173,2:26686804:A>C,NM_194248.2:c.5103+28T>G,\N,\N,40/46,Unknown significance,\N,intron_variant,0.946,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427174,2:26686811:T>G,NM_194248.2:c.5103+21A>C,\N,\N,40/46,Unknown significance,\N,intron_variant,1.496,0.0000607607,EXAC_SAS_AF,OTOF
427175,2:26686813:T>TTGGCCATGCAAG,NM_194248.2:c.5103+7_5103+18dup,\N,\N,40/46,Unknown significance,\N,intron_variant,0.263,\N,\N,OTOF
427176,2:26686820:T>G,NM_194248.2:c.5103+12A>C,\N,\N,40/46,Unknown significance,\N,intron_variant,5.478,0.0000151939,EXAC_NFE_AF,OTOF
427177,2:26686822:C>A,NM_194248.2:c.5103+10G>T,\N,\N,40/46,Unknown significance,\N,intron_variant,12.3,0.0000605987,EXAC_SAS_AF,OTOF
427178,2:26686825:G>A,NM_194248.2:c.5103+7C>T,\N,\N,40/46,Likely benign,\N,splice_region_variant&intron_variant,11.77,0.0000605987,EXAC_SAS_AF,OTOF
427179,2:26686830:A>C,NM_194248.2:c.5103+2T>G,\N,\N,40/46,Unknown significance,\N,splice_donor_variant,24.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427180,2:26686837:C>G,NM_194248.2:c.5098G>C,NP_919224.1:p.Glu1700Gln,40/47,\N,Pathogenic,Auditory neuropathy| autosomal recessive| 1,missense_variant,32,0.0079,1KG_EAS_AF,OTOF
427181,2:26686838:G>A,NM_194248.2:c.5097C>T,NP_919224.1:p.Ile1699=,40/47,\N,Benign,\N,synonymous_variant,17.24,0.0938,1KG_AFR_AF,OTOF
427182,2:26686839:A>G,NM_194248.2:c.5096T>C,NP_919224.1:p.Ile1699Thr,40/47,\N,Unknown significance,\N,missense_variant,24.5,0.0000606134,EXAC_SAS_AF,OTOF
427183,2:26686842:C>A,NM_194248.2:c.5093G>T,NP_919224.1:p.Gly1698Val,40/47,\N,Unknown significance,\N,missense_variant,34,0.0000151575,EXAC_NFE_AF,OTOF
427184,2:26686844:C>T,NM_194248.2:c.5091G>A,NP_919224.1:p.Pro1697=,40/47,\N,Likely benign,\N,synonymous_variant,18.18,0.0023218,EXAC_EAS_AF,OTOF
427185,2:26686852:C>T,NM_001287489.1:c.5083G>A,NP_001274418.1:p.Asp1695Asn,40/46,\N,Unknown significance,\N,missense_variant,24.2,0.0015,1KG_AFR_AF,OTOF
427186,2:26686853:G>A,NM_194248.2:c.5082C>T,NP_919224.1:p.Pro1694=,40/47,\N,Unknown significance,\N,synonymous_variant,14.43,0.000302389,EXAC_FIN_AF,OTOF
427187,2:26686856:G>A,NM_194248.2:c.5079C>T,NP_919224.1:p.Asn1693=,40/47,\N,Unknown significance,\N,synonymous_variant,9.831,0.000116117,EXAC_EAS_AF,OTOF
427188,2:26686857:T>G,NM_194248.2:c.5078A>C,NP_919224.1:p.Asn1693Thr,40/47,\N,Unknown significance,\N,missense_variant,23.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427189,2:26686865:C>A,NM_194248.2:c.5070G>T,NP_919224.1:p.Pro1690=,40/47,\N,Unknown significance,\N,synonymous_variant,17.89,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427190,2:26686866:G>A,NM_194248.2:c.5069C>T,NP_919224.1:p.Pro1690Leu,40/47,\N,Unknown significance,\N,missense_variant,32,0.0000303039,EXAC_NFE_AF,OTOF
427191,2:26686867:G>C,NM_194248.2:c.5068C>G,NP_919224.1:p.Pro1690Ala,40/47,\N,Unknown significance,\N,missense_variant,23.4,0.000116117,EXAC_EAS_AF,OTOF
427192,2:26686868:C>T,NM_194248.2:c.5067G>A,NP_919224.1:p.Arg1689=,40/47,\N,Unknown significance,\N,synonymous_variant,14.13,\N,\N,OTOF
427193,2:26686872:G>A,NM_194248.2:c.5063C>T,NP_919224.1:p.Thr1688Met,40/47,\N,Benign,\N,missense_variant,27.8,0.00625,OTO_CO_AF,OTOF
427194,2:26686874:C>T,NM_194248.2:c.5061G>A,NP_919224.1:p.Glu1687=,40/47,\N,Unknown significance,\N,synonymous_variant,12.07,0.000116279,EVS_EA_AF,OTOF
427195,2:26686880:A>G,NM_194248.2:c.5055T>C,NP_919224.1:p.His1685=,40/47,\N,Unknown significance,\N,synonymous_variant,0.005,0.000060584,EXAC_SAS_AF,OTOF
427196,2:26686885:C>T,NM_001287489.1:c.5050G>A,NP_001274418.1:p.Glu1684Lys,40/46,\N,Unknown significance,\N,missense_variant,27.2,\N,\N,OTOF
427197,2:26686896:C>T,NM_194248.2:c.5039G>A,NP_919224.1:p.Arg1680His,40/47,\N,Benign,\N,missense_variant,22.9,0.0197,1KG_AFR_AF,OTOF
427198,2:26686897:G>A,NM_001287489.1:c.5038C>T,NP_001274418.1:p.Arg1680Cys,40/46,\N,Unknown significance,\N,missense_variant,25.4,0.000930233,EVS_EA_AF,OTOF
427199,2:26686904:T>C,NM_194248.2:c.5031A>G,NP_919224.1:p.Ala1677=,40/47,\N,Unknown significance,\N,synonymous_variant,3.111,0.000116252,EXAC_EAS_AF,OTOF
427200,2:26686906:C>T,NM_194248.2:c.5029G>A,NP_919224.1:p.Ala1677Thr,40/47,\N,Likely benign,\N,missense_variant,22.6,0.0015,1KG_AFR_AF,OTOF
427201,2:26686907:G>A,NM_194248.2:c.5028C>T,NP_919224.1:p.Arg1676=,40/47,\N,Unknown significance,\N,synonymous_variant,10.64,0.00017301,EXAC_AMR_AF,OTOF
427202,2:26686908:C>A,NM_001287489.1:c.5027G>T,NP_001274418.1:p.Arg1676Leu,40/46,\N,Unknown significance,\N,missense_variant,24.2,0.0000151768,EXAC_NFE_AF,OTOF
427203,2:26686908:C>G,NM_001287489.1:c.5027G>C,NP_001274418.1:p.Arg1676Pro,40/46,\N,Unknown significance,\N,missense_variant,26.4,0.00017298,EXAC_AMR_AF,OTOF
427204,2:26686908:C>T,NM_001287489.1:c.5027G>A,NP_001274418.1:p.Arg1676His,40/46,\N,Unknown significance,\N,missense_variant,26.4,0.00110865,EXAC_OTH_AF,OTOF
427205,2:26686909:G>A,NM_194248.2:c.5026C>T,NP_919224.1:p.Arg1676Cys,40/47,\N,Benign,\N,missense_variant,28.7,0.03,OTO_JP_AF,OTOF
427206,2:26686912:G>T,NM_194248.2:c.5023C>A,NP_919224.1:p.Pro1675Thr,40/47,\N,Unknown significance,\N,missense_variant,26.9,0.001,1KG_EUR_AF,OTOF
427207,2:26686916:G>A,NM_194248.2:c.5019C>T,NP_919224.1:p.Asp1673=,40/47,\N,Unknown significance,\N,synonymous_variant,11.53,\N,\N,OTOF
427208,2:26686918:C>T,NM_194248.2:c.5017G>A,NP_919224.1:p.Asp1673Asn,40/47,\N,Unknown significance,\N,missense_variant,24.2,0.0000151787,EXAC_NFE_AF,OTOF
427209,2:26686923:C>CA,NM_194248.2:c.5011dup,NP_919224.1:p.Trp1671LeufsTer73,40/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,\N,\N,OTOF
427210,2:26686931:C>T,NM_194248.2:c.5004G>A,NP_919224.1:p.Leu1668=,40/47,\N,Unknown significance,\N,synonymous_variant,14.21,0.000116279,EVS_EA_AF,OTOF
427211,2:26686934:GGCCAACAGC>G,NM_194248.2:c.4992_5000del,NP_919224.1:p.Leu1666_Leu1668del,40/47,\N,Unknown significance,\N,inframe_deletion,21.6,\N,\N,OTOF
427212,2:26686939:A>G,NM_194248.2:c.4996T>C,NP_919224.1:p.Leu1666=,40/47,\N,Benign,\N,synonymous_variant,1.849,0.0133,1KG_SAS_AF,OTOF
427213,2:26686940:C>G,NM_194248.2:c.4995G>C,NP_919224.1:p.Leu1665=,40/47,\N,Likely benign,\N,synonymous_variant,7.073,\N,\N,OTOF
427214,2:26686943:C>T,NM_194248.2:c.4992G>A,NP_919224.1:p.Ala1664=,40/47,\N,Unknown significance,\N,synonymous_variant,10.48,0.000465116,EXAC_EAS_AF,OTOF
427215,2:26686950:T>C,NM_194248.2:c.4985A>G,NP_919224.1:p.His1662Arg,40/47,\N,Unknown significance,\N,missense_variant,17.81,0.000226963,EVS_AA_AF,OTOF
427216,2:26686951:G>T,NM_194248.2:c.4984C>A,NP_919224.1:p.His1662Asn,40/47,\N,Unknown significance,\N,missense_variant,21.8,0.0000152235,EXAC_NFE_AF,OTOF
427217,2:26686955:G>A,NM_194248.2:c.4980C>T,NP_919224.1:p.Asp1660=,40/47,\N,Benign,\N,synonymous_variant,2.437,0.00590104,EVS_AA_AF,OTOF
427218,2:26686959:G>A,NM_194248.2:c.4976C>T,NP_919224.1:p.Thr1659Ile,40/47,\N,Unknown significance,\N,missense_variant,22.4,0.000121183,EXAC_SAS_AF,OTOF
427219,2:26686977:G>T,NM_194248.2:c.4961-3C>A,\N,\N,39/46,Unknown significance,\N,splice_region_variant&intron_variant,13.13,0.000242395,EXAC_SAS_AF,OTOF
427220,2:26686977:G>C,NM_194248.2:c.4961-3C>G,\N,\N,39/46,Pathogenic,Deafness| non-syndromic,splice_region_variant&intron_variant,12.74,\N,\N,OTOF
427221,2:26686979:G>A,NM_194248.2:c.4961-5C>T,\N,\N,39/46,Unknown significance,\N,splice_region_variant&intron_variant,9.864,0.000102669,EXAC_AFR_AF,OTOF
427222,2:26686985:C>T,NM_194248.2:c.4961-11G>A,\N,\N,39/46,Unknown significance,\N,intron_variant,0.1,0.00017319,EXAC_AMR_AF,OTOF
427223,2:26686986:G>A,NM_194248.2:c.4961-12C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,0.666,0.00226963,EVS_AA_AF,OTOF
427224,2:26686988:C>T,NM_194248.2:c.4961-14G>A,\N,\N,39/46,Unknown significance,\N,intron_variant,0.455,0.000015369,EXAC_NFE_AF,OTOF
427225,2:26686989:G>A,NM_194248.2:c.4961-15C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,0.357,0.000349081,EXAC_EAS_AF,OTOF
427226,2:26686996:C>A,NM_194248.2:c.4961-22G>T,\N,\N,39/46,Unknown significance,\N,intron_variant,6.431,0.000015386,EXAC_NFE_AF,OTOF
427227,2:26686997:T>G,NM_194248.2:c.4961-23A>C,\N,\N,39/46,Unknown significance,\N,intron_variant,5.767,0.000121271,EXAC_SAS_AF,OTOF
427228,2:26687000:A>C,NM_194248.2:c.4961-26T>G,\N,\N,39/46,Unknown significance,\N,intron_variant,0.411,0.0000606355,EXAC_SAS_AF,OTOF
427229,2:26687002:A>G,NM_194248.2:c.4961-28T>C,\N,\N,39/46,Unknown significance,\N,intron_variant,4.267,0.002,1KG_EAS_AF,OTOF
427230,2:26687012:G>A,NM_194248.2:c.4961-38C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,4.277,0.0000154388,EXAC_NFE_AF,OTOF
427231,2:26687023:AGACCTTT>A,NM_194248.2:c.4961-56_4961-50del,\N,\N,39/46,Unknown significance,\N,intron_variant,5.273,0.0000154641,EXAC_NFE_AF,OTOF
427232,2:26687025:A>G,NM_194248.2:c.4961-51T>C,\N,\N,39/46,Unknown significance,\N,intron_variant,1.296,0.00182165,EXAC_AMR_AF,OTOF
427233,2:26687043:G>A,NM_194248.2:c.4961-69C>T,\N,\N,39/46,Benign,\N,intron_variant,3.999,0.0058,1KG_AMR_AF,OTOF
427234,2:26687049:G>A,NM_194248.2:c.4961-75C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,4.556,\N,\N,OTOF
427235,2:26687099:C>T,NM_194248.2:c.4961-125G>A,\N,\N,39/46,Benign,\N,intron_variant,8.08,0.0153,1KG_SAS_AF,OTOF
427236,2:26687120:A>C,NM_194248.2:c.4961-146T>G,\N,\N,39/46,Unknown significance,\N,intron_variant,1.137,0.001,1KG_EUR_AF,OTOF
427237,2:26687131:A>C,NM_194248.2:c.4961-157T>G,\N,\N,39/46,Unknown significance,\N,intron_variant,8.02,\N,\N,OTOF
427238,2:26687135:G>T,NM_194248.2:c.4961-161C>A,\N,\N,39/46,Benign,\N,intron_variant,7.732,0.0068,1KG_AFR_AF,OTOF
427239,2:26687162:A>G,NM_194248.2:c.4961-188T>C,\N,\N,39/46,Benign,\N,intron_variant,7.439,0.0159,1KG_EUR_AF,OTOF
427240,2:26687166:C>G,NM_194248.2:c.4961-192G>C,\N,\N,39/46,Unknown significance,\N,intron_variant,10.87,\N,\N,OTOF
427241,2:26687195:G>A,NM_194248.2:c.4961-221C>T,\N,\N,39/46,Benign,\N,intron_variant,7.583,0.0159,1KG_EUR_AF,OTOF
427242,2:26687246:A>C,NM_194248.2:c.4961-272T>G,\N,\N,39/46,Unknown significance,\N,intron_variant,13.64,0.001,1KG_EUR_AF,OTOF
427243,2:26687314:C>A,NM_194248.2:c.4961-340G>T,\N,\N,39/46,Unknown significance,\N,intron_variant,5.179,\N,\N,OTOF
427244,2:26687326:G>A,NM_194248.2:c.4961-352C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,5.83,\N,\N,OTOF
427245,2:26687349:A>G,NM_194248.2:c.4961-375T>C,\N,\N,39/46,Unknown significance,\N,intron_variant,3.24,\N,\N,OTOF
427246,2:26687365:G>A,NM_194248.2:c.4960+372C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,3.77,\N,\N,OTOF
427247,2:26687389:C>T,NM_194248.2:c.4960+348G>A,\N,\N,39/46,Unknown significance,\N,intron_variant,3.299,0.0029,1KG_AMR_AF,OTOF
427248,2:26687390:C>T,NM_194248.2:c.4960+347G>A,\N,\N,39/46,Unknown significance,\N,intron_variant,4.617,\N,\N,OTOF
427249,2:26687410:T>C,NM_194248.2:c.4960+327A>G,\N,\N,39/46,Unknown significance,\N,intron_variant,13.91,0.003,1KG_EUR_AF,OTOF
427250,2:26687433:G>A,NM_194248.2:c.4960+304C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,12.22,0.001,1KG_EUR_AF,OTOF
427251,2:26687448:G>A,NM_194248.2:c.4960+289C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,5.045,\N,\N,OTOF
427252,2:26687476:G>T,NM_194248.2:c.4960+261C>A,\N,\N,39/46,Benign,\N,intron_variant,8.26,0.0159,1KG_EUR_AF,OTOF
427253,2:26687535:GC>G,NM_194248.2:c.4960+201del,\N,\N,39/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427254,2:26687664:G>GGA,NM_194248.2:c.4960+72_4960+73insTC,\N,\N,39/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427255,2:26687668:T>C,NM_194248.2:c.4960+69A>G,\N,\N,39/46,Unknown significance,\N,intron_variant,8.503,0.0014,1KG_AMR_AF,OTOF
427256,2:26687669:G>A,NM_194248.2:c.4960+68C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,8.17,0.001,1KG_SAS_AF,OTOF
427257,2:26687692:A>G,NM_194248.2:c.4960+45T>C,\N,\N,39/46,Unknown significance,\N,intron_variant,4.247,0.0000686153,EXAC_SAS_AF,OTOF
427258,2:26687693:C>G,NM_194248.2:c.4960+44G>C,\N,\N,39/46,Unknown significance,\N,intron_variant,5.843,0.0000868357,EXAC_AMR_AF,OTOF
427259,2:26687705:G>T,NM_194248.2:c.4960+32C>A,\N,\N,39/46,Unknown significance,\N,intron_variant,1.642,0.0000867453,EXAC_AMR_AF,OTOF
427260,2:26687706:G>C,NM_194248.2:c.4960+31C>G,\N,\N,39/46,Unknown significance,\N,intron_variant,0.49,0.001,1KG_EAS_AF,OTOF
427261,2:26687713:C>A,NM_194248.2:c.4960+24G>T,\N,\N,39/46,Unknown significance,\N,intron_variant,1.123,0.0000671772,EXAC_SAS_AF,OTOF
427262,2:26687713:C>T,NM_194248.2:c.4960+24G>A,\N,\N,39/46,Unknown significance,\N,intron_variant,1.128,0.0014,1KG_AMR_AF,OTOF
427263,2:26687714:G>A,NM_194248.2:c.4960+23C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,3.13,0.001,1KG_EAS_AF,OTOF
427264,2:26687718:G>T,NM_194248.2:c.4960+19C>A,\N,\N,39/46,Unknown significance,\N,intron_variant,0.316,0.0000154626,EXAC_NFE_AF,OTOF
427265,2:26687725:G>A,NM_194248.2:c.4960+12C>T,\N,\N,39/46,Unknown significance,\N,intron_variant,7.634,0.000232558,EVS_EA_AF,OTOF
427266,2:26687733:T>C,NM_194248.2:c.4960+4A>G,\N,\N,39/46,Unknown significance,\N,splice_region_variant&intron_variant,6.317,0.001,1KG_SAS_AF,OTOF
427267,2:26687736:C>G,NM_194248.2:c.4960+1G>C,\N,\N,39/46,Pathogenic,Auditory neuropathy| autosomal recessive| 1; AUDITORY NEUROPATHY| AUTOSOMAL RECESSIVE| 1; Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_donor_variant,24,\N,\N,OTOF
427268,2:26687737:C>G,NM_004802.3:c.2659G>C,NP_004793.2:p.Gly887Arg,22/30,\N,Likely pathogenic,Sensorineural hearing loss| nonsyndromic,missense_variant&splice_region_variant,25.1,\N,\N,OTOF
427269,2:26687737:C>T,NM_194248.2:c.4960G>A,NP_919224.1:p.Gly1654Ser,39/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant&splice_region_variant,25.2,\N,\N,OTOF
427270,2:26687738:G>A,NM_194248.2:c.4959C>T,NP_919224.1:p.Asn1653=,39/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,0.269,0.000116279,EVS_EA_AF,OTOF
427271,2:26687738:G>T,NM_001287489.1:c.4959C>A,NP_001274418.1:p.Asn1653Lys,39/46,\N,Unknown significance,\N,missense_variant&splice_region_variant,17.5,0.0025,OTO_JP_AF,OTOF
427272,2:26687743:C>T,NM_001287489.1:c.4954G>A,NP_001274418.1:p.Glu1652Lys,39/46,\N,Unknown significance,\N,missense_variant,29.7,0.000463607,EXAC_EAS_AF,OTOF
427273,2:26687744:G>A,NM_194248.2:c.4953C>T,NP_919224.1:p.Asp1651=,39/47,\N,Unknown significance,\N,synonymous_variant,3.116,\N,\N,OTOF
427274,2:26687746:C>T,NM_194248.2:c.4951G>A,NP_919224.1:p.Asp1651Asn,39/47,\N,Unknown significance,\N,missense_variant,25.1,0.000226963,EVS_AA_AF,OTOF
427275,2:26687747:C>T,NM_194248.2:c.4950G>A,NP_919224.1:p.Glu1650=,39/47,\N,Unknown significance,\N,synonymous_variant,7.184,\N,\N,OTOF
427276,2:26687751:A>G,NM_194248.2:c.4946T>C,NP_919224.1:p.Ile1649Thr,39/47,\N,Unknown significance,\N,missense_variant,13.59,0.0023,1KG_AFR_AF,OTOF
427277,2:26687755:C>G,NM_194248.2:c.4942G>C,NP_919224.1:p.Glu1648Gln,39/47,\N,Unknown significance,\N,missense_variant,23.6,0.0000152216,EXAC_NFE_AF,OTOF
427278,2:26687761:G>A,NM_194248.2:c.4936C>T,NP_919224.1:p.Pro1646Ser,39/47,\N,Benign,\N,missense_variant,17.37,0.5386,1KG_AFR_AF,OTOF
427279,2:26687761:G>T,NM_194248.2:c.4936C>A,NP_919224.1:p.Pro1646Thr,39/47,\N,Unknown significance,\N,missense_variant,13.86,0.00058087,EXAC_SAS_AF,OTOF
427280,2:26687763:C>T,NM_001287489.1:c.4934G>A,NP_001274418.1:p.Gly1645Glu,39/46,\N,Unknown significance,\N,missense_variant,24.5,0.000226963,EVS_AA_AF,OTOF
427281,2:26687765:A>G,NM_194248.2:c.4932T>C,NP_919224.1:p.Thr1644=,39/47,\N,Unknown significance,\N,synonymous_variant,0.156,0.0000152073,EXAC_NFE_AF,OTOF
427282,2:26687773:C>T,NM_194248.2:c.4924G>A,NP_919224.1:p.Val1642Ile,39/47,\N,Likely benign,\N,missense_variant,21.4,0.00112613,EXAC_OTH_AF,OTOF
427283,2:26687774:G>A,NM_194248.2:c.4923C>T,NP_919224.1:p.Arg1641=,39/47,\N,Unknown significance,\N,synonymous_variant,12.19,0.0000865052,EXAC_AMR_AF,OTOF
427284,2:26687775:C>T,NM_194248.2:c.4922G>A,NP_919224.1:p.Arg1641His,39/47,\N,Unknown significance,\N,missense_variant,24.4,0.00190311,EXAC_AMR_AF,OTOF
427285,2:26687778:T>C,NM_001287489.1:c.4919A>G,NP_001274418.1:p.Asn1640Ser,39/46,\N,Unknown significance,\N,missense_variant,23.6,0.001,1KG_EUR_AF,OTOF
427286,2:26687779:T>C,NM_001287489.1:c.4918A>G,NP_001274418.1:p.Asn1640Asp,39/46,\N,Unknown significance,\N,missense_variant,24.2,0.0000152175,EXAC_NFE_AF,OTOF
427287,2:26687781:G>A,NM_194248.2:c.4916C>T,NP_919224.1:p.Ala1639Val,39/47,\N,Unknown significance,\N,missense_variant,24.7,0.000347464,EXAC_EAS_AF,OTOF
427288,2:26687784:A>C,NM_194248.2:c.4913T>G,NP_919224.1:p.Val1638Gly,39/47,\N,Unknown significance,\N,missense_variant,28.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427289,2:26687789:C>T,NM_194248.2:c.4908G>A,NP_919224.1:p.Val1636=,39/47,\N,Unknown significance,\N,synonymous_variant,12.63,0.0000458519,EXAC_NFE_AF,OTOF
427290,2:26687790:A>C,NM_194248.2:c.4907T>G,NP_919224.1:p.Val1636Gly,39/47,\N,Unknown significance,\N,missense_variant,26.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427291,2:26687798:A>G,NM_194248.2:c.4899T>C,NP_919224.1:p.Pro1633=,39/47,\N,Unknown significance,\N,synonymous_variant,0.046,0.0000743163,EXAC_SAS_AF,OTOF
427292,2:26687798:AG>A,NM_194248.2:c.4898del,NP_919224.1:p.Pro1633LeufsTer4,39/47,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,OTOF
427293,2:26687803:G>A,NM_194322.2:c.2824C>T,NP_919303.1:p.Pro942Ser,21/29,\N,Unknown significance,\N,missense_variant,17.45,0.0000153492,EXAC_NFE_AF,OTOF
427294,2:26687805:C>T,NM_001287489.1:c.4892G>A,NP_001274418.1:p.Gly1631Glu,39/46,\N,Unknown significance,\N,missense_variant,25.4,0.000348109,EXAC_EAS_AF,OTOF
427295,2:26687812:G>T,NM_194248.2:c.4885C>A,NP_919224.1:p.His1629Asn,39/47,\N,Unknown significance,\N,missense_variant,24.3,0.000116063,EXAC_EAS_AF,OTOF
427296,2:26687815:G>T,NM_194248.2:c.4882C>A,NP_919224.1:p.Pro1628Thr,39/47,\N,Unknown significance,\N,missense_variant,27.2,0.000116117,EXAC_EAS_AF,OTOF
427297,2:26687816:G>A,NM_194248.2:c.4881C>T,NP_919224.1:p.Gly1627=,39/47,\N,Unknown significance,\N,synonymous_variant,11.25,0.001,1KG_EAS_AF,OTOF
427298,2:26687818:C>T,NM_194248.2:c.4879G>A,NP_919224.1:p.Gly1627Ser,39/47,\N,Unknown significance,\N,missense_variant,28.2,0.0000868056,EXAC_AMR_AF,OTOF
427299,2:26687819:G>A,NM_194248.2:c.4878C>T,NP_919224.1:p.Asp1626=,39/47,\N,Likely benign,\N,synonymous_variant,10.94,\N,\N,OTOF
427300,2:26687824:C>T,NM_194248.2:c.4873G>A,NP_919224.1:p.Val1625Met,39/47,\N,Benign,Deafness| autosomal recessive 9; OTOF-Related Deafness,missense_variant,28.3,\N,\N,OTOF
427301,2:26687827:T>C,NM_194248.2:c.4870A>G,NP_919224.1:p.Lys1624Glu,39/47,\N,Unknown significance,\N,missense_variant,24.3,0.0000154435,EXAC_NFE_AF,OTOF
427302,2:26687828:G>A,NM_194248.2:c.4869C>T,NP_919224.1:p.Gly1623=,39/47,\N,Benign,\N,synonymous_variant,11.17,0.0174,1KG_AFR_AF,OTOF
427303,2:26687830:C>T,NM_194248.2:c.4867G>A,NP_919224.1:p.Gly1623Ser,39/47,\N,Likely benign,\N,missense_variant,18.75,0.000086881,EXAC_AMR_AF,OTOF
427304,2:26687831:G>A,NM_194248.2:c.4866C>T,NP_919224.1:p.Asp1622=,39/47,\N,Unknown significance,\N,synonymous_variant,11.84,0.000116414,EXAC_EAS_AF,OTOF
427305,2:26687844:C>G,NM_194248.2:c.4853G>C,NP_919224.1:p.Arg1618Pro,39/47,\N,Unknown significance,\N,missense_variant,26.4,0.000087108,EXAC_AMR_AF,OTOF
427306,2:26687844:C>T,NM_194248.2:c.4853G>A,NP_919224.1:p.Arg1618His,39/47,\N,Unknown significance,\N,missense_variant,26.9,0.000348432,EXAC_AMR_AF,OTOF
427307,2:26687845:G>A,NM_194248.2:c.4852C>T,NP_919224.1:p.Arg1618Cys,39/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
427308,2:26687846:G>A,NM_194248.2:c.4851C>T,NP_919224.1:p.Thr1617=,39/47,\N,Unknown significance,\N,synonymous_variant,11.35,0.0000622723,EXAC_NFE_AF,OTOF
427309,2:26687851:G>A,NM_194248.2:c.4846C>T,NP_919224.1:p.Leu1616=,39/47,\N,Unknown significance,\N,synonymous_variant,10.62,0.0000996016,EXAC_AFR_AF,OTOF
427310,2:26687852:G>A,NM_194248.2:c.4845C>T,NP_919224.1:p.Ile1615=,39/47,\N,Unknown significance,\N,synonymous_variant,13.71,0.000350959,EXAC_EAS_AF,OTOF
427311,2:26687860:T>G,NM_194248.2:c.4837A>C,NP_919224.1:p.Ser1613Arg,39/47,\N,Unknown significance,\N,missense_variant,24.2,0.001,1KG_EAS_AF,OTOF
427312,2:26687862:G>A,NM_194248.2:c.4835C>T,NP_919224.1:p.Pro1612Leu,39/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,missense_variant,32,\N,\N,OTOF
427313,2:26687863:G>A,NM_194248.2:c.4834C>T,NP_919224.1:p.Pro1612Ser,39/47,\N,Unknown significance,\N,missense_variant,29.5,0.0000156651,EXAC_NFE_AF,OTOF
427314,2:26687874:T>G,NM_194248.2:c.4823A>C,NP_919224.1:p.Asp1608Ala,39/47,\N,Unknown significance,\N,missense_variant,29.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427315,2:26687875:C>A,NM_194248.2:c.4822G>T,NP_919224.1:p.Asp1608Tyr,39/47,\N,Unknown significance,\N,missense_variant,34,0.002,1KG_SAS_AF,OTOF
427316,2:26687877:C>T,NM_194248.2:c.4820G>A,NP_919224.1:p.Arg1607Gln,39/47,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_EAS_AF,OTOF
427317,2:26687878:G>A,NM_194248.2:c.4819C>T,NP_919224.1:p.Arg1607Trp,39/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,34,0.000117509,EXAC_EAS_AF,OTOF
427318,2:26687879:C>T,NM_194248.2:c.4818G>A,NP_919224.1:p.Trp1606Ter,39/47,\N,Unknown significance,\N,stop_gained,52,0.000087321,EXAC_AMR_AF,OTOF
427319,2:26687883:A>G,NM_194248.2:c.4814T>C,NP_919224.1:p.Ile1605Thr,39/47,\N,Unknown significance,\N,missense_variant,16.93,0.0000157322,EXAC_NFE_AF,OTOF
427320,2:26687885:A>T,NM_194248.2:c.4812T>A,NP_919224.1:p.Asn1604Lys,39/47,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,OTOF
427321,2:26687888:G>T,NM_194248.2:c.4809C>A,NP_919224.1:p.Tyr1603Ter,39/47,\N,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,stop_gained,45,\N,\N,OTOF
427322,2:26687888:G>A,NM_194248.2:c.4809C>T,NP_919224.1:p.Tyr1603=,39/47,\N,Unknown significance,\N,synonymous_variant,6.149,0.000226963,EVS_AA_AF,OTOF
427323,2:26687888:G>C,NM_194248.2:c.4809C>G,NP_919224.1:p.Tyr1603Ter,39/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,43,\N,\N,OTOF
427324,2:26687893:C>T,NM_194248.2:c.4804G>A,NP_919224.1:p.Gly1602Ser,39/47,\N,Unknown significance,\N,missense_variant,31,0.0000157302,EXAC_NFE_AF,OTOF
427325,2:26687894:A>G,NM_194248.2:c.4803T>C,NP_919224.1:p.His1601=,39/47,\N,Unknown significance,\N,synonymous_variant,0.067,0.000152114,EXAC_FIN_AF,OTOF
427326,2:26687899:T>C,NM_194248.2:c.4800-2A>G,\N,\N,38/46,Unknown significance,\N,splice_acceptor_variant,23,0.0000157317,EXAC_NFE_AF,OTOF
427327,2:26687908:G>A,NM_194248.2:c.4800-11C>T,\N,\N,38/46,Benign,\N,intron_variant,4.654,0.00313953,EVS_EA_AF,OTOF
427328,2:26687913:C>A,NM_194248.2:c.4800-16G>T,\N,\N,38/46,Unknown significance,\N,intron_variant,5.727,0.000087184,EXAC_AMR_AF,OTOF
427329,2:26687930:TG>T,NM_194248.2:c.4800-34del,\N,\N,38/46,Unknown significance,\N,intron_variant,0.704,0.000471032,EXAC_EAS_AF,OTOF
427330,2:26687933:G>A,NM_194248.2:c.4800-36C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,3.626,0.000116279,EVS_EA_AF,OTOF
427331,2:26687933:GT>G,NM_194248.2:c.4800-37del,\N,\N,38/46,Unknown significance,\N,intron_variant,1.632,0.000235516,EXAC_EAS_AF,OTOF
427332,2:26687940:T>C,NM_194248.2:c.4800-43A>G,\N,\N,38/46,Unknown significance,\N,intron_variant,4.951,0.000907853,EVS_AA_AF,OTOF
427333,2:26687948:C>G,NM_194248.2:c.4800-51G>C,\N,\N,38/46,Unknown significance,\N,intron_variant,5.388,0.00188546,EXAC_EAS_AF,OTOF
427334,2:26687950:T>C,NM_194248.2:c.4800-53A>G,\N,\N,38/46,Unknown significance,\N,intron_variant,2.549,0.0008,1KG_AFR_AF,OTOF
427335,2:26687951:G>A,NM_194248.2:c.4800-54C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,0.902,0.001,1KG_EUR_AF,OTOF
427336,2:26687966:G>A,NM_194248.2:c.4800-69C>T,\N,\N,38/46,Benign,\N,intron_variant,3.662,0.0204,1KG_SAS_AF,OTOF
427337,2:26687966:G>C,NM_194248.2:c.4800-69C>G,\N,\N,38/46,Unknown significance,\N,intron_variant,1.061,\N,\N,OTOF
427338,2:26687989:T>C,NM_194248.2:c.4800-92A>G,\N,\N,38/46,Unknown significance,\N,intron_variant,4.312,0.001,1KG_SAS_AF,OTOF
427339,2:26688036:C>T,NM_194248.2:c.4800-139G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,15.6,0.001,1KG_EAS_AF,OTOF
427340,2:26688040:C>T,NM_194248.2:c.4800-143G>A,\N,\N,38/46,Benign,\N,intron_variant,13.98,0.005,1KG_EUR_AF,OTOF
427341,2:26688069:C>G,NM_194248.2:c.4800-172G>C,\N,\N,38/46,Unknown significance,\N,intron_variant,2.253,0.001,1KG_EAS_AF,OTOF
427342,2:26688072:A>G,NM_194248.2:c.4800-175T>C,\N,\N,38/46,Unknown significance,\N,intron_variant,2.461,0.0014,1KG_AMR_AF,OTOF
427343,2:26688074:C>A,NM_194248.2:c.4800-177G>T,\N,\N,38/46,Unknown significance,\N,intron_variant,4.989,\N,\N,OTOF
427344,2:26688100:A>G,NM_194248.2:c.4800-203T>C,\N,\N,38/46,Benign,\N,intron_variant,0.446,0.0575,1KG_AFR_AF,OTOF
427345,2:26688109:TCCCCAGCCTAG>T,NM_194248.2:c.4800-223_4800-213del,\N,\N,38/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427346,2:26688197:G>A,NM_194248.2:c.4800-300C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,9.097,\N,\N,OTOF
427347,2:26688206:C>G,NM_194248.2:c.4800-309G>C,\N,\N,38/46,Unknown significance,\N,intron_variant,9.048,\N,\N,OTOF
427348,2:26688226:C>T,NM_194248.2:c.4799+314G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,3.954,0.0008,1KG_AFR_AF,OTOF
427349,2:26688234:G>A,NM_194248.2:c.4799+306C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,6.025,0.001,1KG_EAS_AF,OTOF
427350,2:26688303:C>T,NM_194248.2:c.4799+237G>A,\N,\N,38/46,Benign,\N,intron_variant,5.979,0.0121,1KG_AFR_AF,OTOF
427351,2:26688322:C>T,NM_194248.2:c.4799+218G>A,\N,\N,38/46,Benign,\N,intron_variant,8.604,0.0582,1KG_AFR_AF,OTOF
427352,2:26688328:C>T,NM_194248.2:c.4799+212G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,9.65,\N,\N,OTOF
427353,2:26688339:G>A,NM_194248.2:c.4799+201C>T,\N,\N,38/46,Benign,\N,intron_variant,0.556,0.0051,1KG_SAS_AF,OTOF
427354,2:26688366:G>A,NM_194248.2:c.4799+174C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,5.419,0.001,1KG_EUR_AF,OTOF
427355,2:26688367:G>C,NM_194248.2:c.4799+173C>G,\N,\N,38/46,Benign,\N,intron_variant,0.799,0.0204,1KG_AFR_AF,OTOF
427356,2:26688394:G>A,NM_194248.2:c.4799+146C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,2.714,\N,\N,OTOF
427357,2:26688423:G>A,NM_194248.2:c.4799+117C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,11.59,\N,\N,OTOF
427358,2:26688434:G>A,NM_194248.2:c.4799+106C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,8.894,\N,\N,OTOF
427359,2:26688438:C>A,NM_194248.2:c.4799+102G>T,\N,\N,38/46,Unknown significance,\N,intron_variant,8.227,0.001,1KG_EAS_AF,OTOF
427360,2:26688444:T>G,NM_194248.2:c.4799+96A>C,\N,\N,38/46,Unknown significance,\N,intron_variant,4.253,0.0041,1KG_SAS_AF,OTOF
427361,2:26688445:G>T,NM_194248.2:c.4799+95C>A,\N,\N,38/46,Unknown significance,\N,intron_variant,0.029,0.0008,1KG_AFR_AF,OTOF
427362,2:26688490:G>C,NM_194248.2:c.4799+50C>G,\N,\N,38/46,Unknown significance,\N,intron_variant,1.475,0.0000451196,EXAC_NFE_AF,OTOF
427363,2:26688499:C>T,NM_194248.2:c.4799+41G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,8.008,0.000226963,EVS_AA_AF,OTOF
427364,2:26688514:C>T,NM_194248.2:c.4799+26G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,5.143,0.000385282,EXAC_AFR_AF,OTOF
427365,2:26688515:G>A,NM_194248.2:c.4799+25C>T,\N,\N,38/46,Unknown significance,\N,intron_variant,1.241,0.0023,1KG_AFR_AF,OTOF
427366,2:26688516:C>T,NM_194248.2:c.4799+24G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,5.098,\N,\N,OTOF
427367,2:26688518:C>T,NM_194248.2:c.4799+22G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,6.297,0.0000150015,EXAC_NFE_AF,OTOF
427368,2:26688524:C>T,NM_194248.2:c.4799+16G>A,\N,\N,38/46,Benign,\N,intron_variant,8.016,0.0545,1KG_AFR_AF,OTOF
427369,2:26688528:T>C,NM_194248.2:c.4799+12A>G,\N,\N,38/46,Unknown significance,\N,intron_variant,1.883,0.0000962094,EXAC_AFR_AF,OTOF
427370,2:26688531:C>T,NM_194248.2:c.4799+9G>A,\N,\N,38/46,Unknown significance,\N,intron_variant,8.406,0.00175651,EXAC_SAS_AF,OTOF
427371,2:26688538:A>G,NM_194248.2:c.4799+2T>C,\N,\N,38/46,Unknown significance,\N,splice_donor_variant,23.5,0.0000149907,EXAC_NFE_AF,OTOF
427372,2:26688539:C>T,NM_194248.2:c.4799+1G>A,\N,\N,38/46,Pathogenic,Deafness| autosomal recessive 9,splice_donor_variant,25.1,0.0014,1KG_AMR_AF,OTOF
427373,2:26688539:C>G,NM_194248.2:c.4799+1G>C,\N,\N,38/46,Unknown significance,\N,splice_donor_variant,24.7,0.000116279,EVS_EA_AF,OTOF
427374,2:26688539:C>A,NM_194248.2:c.4799+1G>T,\N,\N,38/46,Pathogenic,Hearing loss| non-syndromic,splice_donor_variant,25.3,\N,\N,OTOF
427375,2:26688540:G>A,NM_194248.2:c.4799C>T,NP_919224.1:p.Thr1600Ile,38/47,\N,Likely benign,\N,missense_variant&splice_region_variant,0.42,0.001,1KG_SAS_AF,OTOF
427376,2:26688549:G>A,NM_194248.2:c.4790C>T,NP_919224.1:p.Thr1597Ile,38/47,\N,Unknown significance,\N,missense_variant,23.3,0.000950242,EXAC_AMR_AF,OTOF
427377,2:26688556:C>A,NM_194248.2:c.4783G>T,NP_919224.1:p.Ala1595Ser,38/47,\N,Likely benign,\N,missense_variant,17.15,0.000060562,EXAC_SAS_AF,OTOF
427378,2:26688556:C>T,NM_194248.2:c.4783G>A,NP_919224.1:p.Ala1595Thr,38/47,\N,Likely benign,\N,missense_variant,21.4,0.00011558,EXAC_EAS_AF,OTOF
427379,2:26688557:G>A,NM_194248.2:c.4782C>T,NP_919224.1:p.Ile1594=,38/47,\N,Benign,\N,synonymous_variant,14.95,0.01,OTO_TR_AF,OTOF
427380,2:26688562:C>T,NM_194248.2:c.4777G>A,NP_919224.1:p.Gly1593Ser,38/47,\N,Unknown significance,\N,missense_variant,35,0.0000149862,EXAC_NFE_AF,OTOF
427381,2:26688563:G>A,NM_194248.2:c.4776C>T,NP_919224.1:p.Cys1592=,38/47,\N,Unknown significance,\N,synonymous_variant,11.57,0.000181686,EXAC_SAS_AF,OTOF
427382,2:26688563:G>T,NM_194248.2:c.4776C>A,NP_919224.1:p.Cys1592Ter,38/47,\N,Unknown significance,\N,stop_gained,37,0.0000961169,EXAC_AFR_AF,OTOF
427383,2:26688568:T>C,NM_194248.2:c.4771A>G,NP_919224.1:p.Thr1591Ala,38/47,\N,Unknown significance,\N,missense_variant,17.13,\N,\N,OTOF
427384,2:26688568:T>G,NM_194248.2:c.4771A>C,NP_919224.1:p.Thr1591Pro,38/47,\N,Unknown significance,\N,missense_variant,23.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427385,2:26688572:G>A,NM_194248.2:c.4767C>T,NP_919224.1:p.Arg1589=,38/47,\N,Benign,\N,synonymous_variant,11.48,0.120788,EXAC_AMR_AF,OTOF
427386,2:26688573:C>T,NM_194248.2:c.4766G>A,NP_919224.1:p.Arg1589His,38/47,\N,Unknown significance,\N,missense_variant,35,0.00011558,EXAC_EAS_AF,OTOF
427387,2:26688574:G>A,NM_194248.2:c.4765C>T,NP_919224.1:p.Arg1589Cys,38/47,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,OTOF
427388,2:26688575:G>A,NM_194248.2:c.4764C>T,NP_919224.1:p.His1588=,38/47,\N,Unknown significance,\N,synonymous_variant,8.299,0.000121124,EXAC_SAS_AF,OTOF
427389,2:26688576:T>G,NM_194248.2:c.4763A>C,NP_919224.1:p.His1588Pro,38/47,\N,Unknown significance,\N,missense_variant,26.4,0.0000149853,EXAC_NFE_AF,OTOF
427390,2:26688584:G>A,NM_194248.2:c.4755C>T,NP_919224.1:p.Tyr1585=,38/47,\N,Unknown significance,\N,synonymous_variant,5.134,0.0000863856,EXAC_AMR_AF,OTOF
427391,2:26688591:C>T,NM_194248.2:c.4748G>A,NP_919224.1:p.Arg1583His,38/47,\N,Pathogenic,Auditory neuropathy spectrum disorder,missense_variant,35,0.000226963,EVS_AA_AF,OTOF
427392,2:26688592:G>A,NM_194248.2:c.4747C>T,NP_919224.1:p.Arg1583Cys,38/47,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,OTOF
427393,2:26688593:G>A,NM_194248.2:c.4746C>T,NP_919224.1:p.Asn1582=,38/47,\N,Unknown significance,\N,synonymous_variant,8.225,0.000060562,EXAC_SAS_AF,OTOF
427394,2:26688598:C>G,NM_194248.2:c.4741G>C,NP_919224.1:p.Glu1581Gln,38/47,\N,Unknown significance,\N,missense_variant,28.9,0.0000149858,EXAC_NFE_AF,OTOF
427395,2:26688604:C>T,NM_194248.2:c.4735G>A,NP_919224.1:p.Asp1579Asn,38/47,\N,Unknown significance,\N,missense_variant,34,0.00011558,EXAC_EAS_AF,OTOF
427396,2:26688605:G>A,NM_194248.2:c.4734C>T,NP_919224.1:p.Ile1578=,38/47,\N,Unknown significance,\N,synonymous_variant,13.73,0.0000149858,EXAC_NFE_AF,OTOF
427397,2:26688609:T>C,NM_194248.2:c.4730A>G,NP_919224.1:p.Lys1577Arg,38/47,\N,Unknown significance,\N,missense_variant,20.6,0.000060562,EXAC_SAS_AF,OTOF
427398,2:26688616:C>T,NM_194248.2:c.4723G>A,NP_919224.1:p.Glu1575Lys,38/47,\N,Unknown significance,\N,missense_variant,34,0.00011558,EXAC_EAS_AF,OTOF
427399,2:26688617:C>T,NM_194248.2:c.4722G>A,NP_919224.1:p.Gly1574=,38/47,\N,Unknown significance,\N,synonymous_variant,15.75,0.0000961169,EXAC_AFR_AF,OTOF
427400,2:26688621:A>G,NM_194248.2:c.4718T>C,NP_919224.1:p.Ile1573Thr,38/47,\N,Pathogenic,Deafness| non-syndromic| autosomal recessive,missense_variant,28.3,0.0000899173,EXAC_NFE_AF,OTOF
427401,2:26688623:G>T,NM_194248.2:c.4716C>A,NP_919224.1:p.Leu1572=,38/47,\N,Unknown significance,\N,synonymous_variant,9.201,0.0000149867,EXAC_NFE_AF,OTOF
427402,2:26688626:G>A,NM_194248.2:c.4713C>T,NP_919224.1:p.Asp1571=,38/47,\N,Unknown significance,\N,synonymous_variant,10.74,0.000116279,EVS_EA_AF,OTOF
427403,2:26688628:C>G,NM_194248.2:c.4711G>C,NP_919224.1:p.Asp1571His,38/47,\N,Unknown significance,\N,missense_variant,29.5,0.0000149871,EXAC_NFE_AF,OTOF
427404,2:26688639:A>C,NM_194248.2:c.4700T>G,NP_919224.1:p.Val1567Gly,38/47,\N,Unknown significance,\N,missense_variant,27.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427405,2:26688656:C>T,NM_194248.2:c.4683G>A,NP_919224.1:p.Val1561=,38/47,\N,Unknown significance,\N,synonymous_variant,13.56,0.0000149907,EXAC_NFE_AF,OTOF
427406,2:26688658:C>T,NM_194248.2:c.4681G>A,NP_919224.1:p.Val1561Met,38/47,\N,Unknown significance,\N,missense_variant,27.3,0.0000149916,EXAC_NFE_AF,OTOF
427407,2:26688662:C>T,NM_194248.2:c.4677G>A,NP_919224.1:p.Val1559=,38/47,\N,Benign,\N,synonymous_variant,13.03,0.15,OTO_JP_AF,OTOF
427408,2:26688665:C>T,NM_194248.2:c.4674G>A,NP_919224.1:p.Thr1558=,38/47,\N,Unknown significance,\N,synonymous_variant,17.57,0.000462535,EXAC_EAS_AF,OTOF
427409,2:26688666:G>A,NM_194248.2:c.4673C>T,NP_919224.1:p.Thr1558Met,38/47,\N,Unknown significance,\N,missense_variant,32,0.00011558,EXAC_EAS_AF,OTOF
427410,2:26688675:G>A,NM_194248.2:c.4664C>T,NP_919224.1:p.Ser1555Phe,38/47,\N,Unknown significance,\N,missense_variant,31,0.0000149916,EXAC_NFE_AF,OTOF
427411,2:26688682:T>C,NM_194248.2:c.4657A>G,NP_919224.1:p.Met1553Val,38/47,\N,Unknown significance,\N,missense_variant,22.7,0.0000299895,EXAC_NFE_AF,OTOF
427412,2:26688686:G>A,NM_194248.2:c.4653C>T,NP_919224.1:p.Phe1551=,38/47,\N,Unknown significance,\N,synonymous_variant,10.83,0.0000299931,EXAC_NFE_AF,OTOF
427413,2:26688696:TC>T,NM_194248.2:c.4642del,NP_919224.1:p.Glu1548ArgfsTer10,38/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000299994,EXAC_NFE_AF,OTOF
427414,2:26688697:C>T,NM_001287489.1:c.4642G>A,NP_001274418.1:p.Glu1548Lys,38/46,\N,Unknown significance,\N,missense_variant,34,0.002,1KG_SAS_AF,OTOF
427415,2:26688698:G>A,NM_194248.2:c.4641C>T,NP_919224.1:p.Ile1547=,38/47,\N,Unknown significance,\N,synonymous_variant,14.74,0.000116279,EVS_EA_AF,OTOF
427416,2:26688711:C>T,NM_194248.2:c.4629-1G>A,\N,\N,37/46,Unknown significance,\N,splice_acceptor_variant,25.4,\N,\N,OTOF
427417,2:26688713:G>C,NM_194248.2:c.4629-3C>G,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,0.512,0.000192345,EXAC_AFR_AF,OTOF
427418,2:26688715:T>G,NM_194248.2:c.4629-5A>C,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,0.502,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427419,2:26688717:G>A,NM_194248.2:c.4629-7C>T,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,2.965,0.000030003,EXAC_NFE_AF,OTOF
427420,2:26688718:G>T,NM_194248.2:c.4629-8C>A,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,1.075,0.00231642,EXAC_EAS_AF,OTOF
427421,2:26688719:G>A,NM_194248.2:c.4629-9C>T,\N,\N,37/46,Benign,\N,intron_variant,1.893,0.0446,1KG_AFR_AF,OTOF
427422,2:26688720:T>G,NM_194248.2:c.4629-10A>C,\N,\N,37/46,Benign,\N,intron_variant,6.992,0.02,OTO_TR_AF,OTOF
427423,2:26688721:G>A,NM_194248.2:c.4629-11C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,7.069,0.000116279,EVS_EA_AF,OTOF
427424,2:26688732:A>G,NM_194248.2:c.4629-22T>C,\N,\N,37/46,Unknown significance,\N,intron_variant,3.187,0.0000149975,EXAC_NFE_AF,OTOF
427425,2:26688745:T>C,NM_194248.2:c.4629-35A>G,\N,\N,37/46,Unknown significance,\N,intron_variant,3.938,0.0000605694,EXAC_SAS_AF,OTOF
427426,2:26688753:G>A,NM_194248.2:c.4629-43C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,10.8,0.0000149903,EXAC_NFE_AF,OTOF
427427,2:26688755:T>G,NM_194248.2:c.4629-45A>C,\N,\N,37/46,Unknown significance,\N,intron_variant,11.18,\N,\N,OTOF
427428,2:26688756:G>A,NM_194248.2:c.4629-46C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,5.493,0.000226963,EVS_AA_AF,OTOF
427429,2:26688759:A>G,NM_194248.2:c.4629-49T>C,\N,\N,37/46,Unknown significance,\N,intron_variant,6.65,\N,\N,OTOF
427430,2:26688762:T>G,NM_194248.2:c.4629-52A>C,\N,\N,37/46,Benign,\N,intron_variant,6.414,0.046875,OTO_US_AF,OTOF
427431,2:26688780:T>A,NM_194248.2:c.4628+37A>T,\N,\N,37/46,Benign,\N,intron_variant,8.688,0.0119,1KG_EAS_AF,OTOF
427432,2:26688784:G>A,NM_194248.2:c.4628+33C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,6.158,\N,\N,OTOF
427433,2:26688785:G>A,NM_194248.2:c.4628+32C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,1.007,0.0000960984,EXAC_AFR_AF,OTOF
427434,2:26688786:T>G,NM_194248.2:c.4628+31A>C,\N,\N,37/46,Benign,\N,intron_variant,4.771,0.02,OTO_TR_AF,OTOF
427435,2:26688789:G>C,NM_194248.2:c.4628+28C>G,\N,\N,37/46,Unknown significance,\N,intron_variant,0.566,0.0000299688,EXAC_NFE_AF,OTOF
427436,2:26688790:G>A,NM_194248.2:c.4628+27C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,4.392,0.0000863856,EXAC_AMR_AF,OTOF
427437,2:26688794:G>C,NM_194248.2:c.4628+23C>G,\N,\N,37/46,Unknown significance,\N,intron_variant,1.848,0.0000863856,EXAC_AMR_AF,OTOF
427438,2:26688797:A>G,NM_194248.2:c.4628+20T>C,\N,\N,37/46,Benign,\N,intron_variant,4.221,0.085,OTO_TR_AF,OTOF
427439,2:26688799:G>A,NM_194248.2:c.4628+18C>T,\N,\N,37/46,Unknown significance,\N,intron_variant,13.2,0.004,1KG_EUR_AF,OTOF
427440,2:26688801:C>G,NM_194248.2:c.4628+16G>C,\N,\N,37/46,Unknown significance,\N,intron_variant,12.55,0.003125,OTO_US_AF,OTOF
427441,2:26688804:C>A,NM_194248.2:c.4628+13G>T,\N,\N,37/46,Unknown significance,\N,intron_variant,11.64,0.0000149867,EXAC_NFE_AF,OTOF
427442,2:26688811:C>G,NM_194248.2:c.4628+6G>C,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,11.02,0.000226963,EVS_AA_AF,OTOF
427443,2:26688811:C>T,NM_194248.2:c.4628+6G>A,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,11.92,0.0015,1KG_AFR_AF,OTOF
427444,2:26688814:T>C,NM_194248.2:c.4628+3A>G,\N,\N,37/46,Unknown significance,\N,splice_region_variant&intron_variant,11.48,0.000115554,EXAC_EAS_AF,OTOF
427445,2:26688831:G>T,NM_194323.2:c.2313C>A,NP_919304.1:p.Asn771Lys,20/29,\N,Unknown significance,\N,missense_variant,27.3,0.00110132,EXAC_OTH_AF,OTOF
427446,2:26688832:T>G,NM_194248.2:c.4613A>C,NP_919224.1:p.Asn1538Thr,37/47,\N,Benign,\N,missense_variant,23.3,0.005,OTO_TR_AF,OTOF
427447,2:26688847:A>T,NM_004802.3:c.2297T>A,NP_004793.2:p.Ile766Asn,20/30,\N,Unknown significance,\N,missense_variant,29.8,0.0000863856,EXAC_AMR_AF,OTOF
427448,2:26688848:T>C,NM_194248.2:c.4597A>G,NP_919224.1:p.Ile1533Val,37/47,\N,Unknown significance,\N,missense_variant,16.24,0.000060562,EXAC_SAS_AF,OTOF
427449,2:26688854:TCTC>T,NM_194248.2:c.4588_4590del,NP_919224.1:p.Glu1530del,37/47,\N,Unknown significance,\N,inframe_deletion,21.9,0.000060562,EXAC_SAS_AF,OTOF
427450,2:26688857:C>T,NM_194322.2:c.2518G>A,NP_919303.1:p.Glu840Lys,19/29,\N,Unknown significance,\N,missense_variant,34,\N,\N,OTOF
427451,2:26688858:C>T,NM_194248.2:c.4587G>A,NP_919224.1:p.Lys1529=,37/47,\N,Unknown significance,\N,synonymous_variant,15.82,0.0000149885,EXAC_NFE_AF,OTOF
427452,2:26688863:C>T,NM_194248.2:c.4582G>A,NP_919224.1:p.Asp1528Asn,37/47,\N,Likely benign,\N,missense_variant,35,0.00413223,EXAC_AFR_AF,OTOF
427453,2:26688864:G>A,NM_194248.2:c.4581C>T,NP_919224.1:p.Arg1527=,37/47,\N,Unknown significance,\N,synonymous_variant,14.04,0.0000960984,EXAC_AFR_AF,OTOF
427454,2:26688865:C>T,NM_194322.2:c.2510G>A,NP_919303.1:p.Arg837His,19/29,\N,Unknown significance,\N,missense_variant,33,\N,\N,OTOF
427455,2:26688866:G>A,NM_004802.3:c.2278C>T,NP_004793.2:p.Arg760Cys,20/30,\N,Unknown significance,\N,missense_variant,32,0.000060562,EXAC_SAS_AF,OTOF
427456,2:26688867:G>C,NM_194322.2:c.2508C>G,NP_919303.1:p.Ile836Met,19/29,\N,Unknown significance,\N,missense_variant,24.5,0.000116279,EVS_EA_AF,OTOF
427457,2:26688873:A>G,NM_194248.2:c.4572T>C,NP_919224.1:p.Thr1524=,37/47,\N,Unknown significance,\N,synonymous_variant,2.09,0.0000864006,EXAC_AMR_AF,OTOF
427458,2:26688886:C>T,NM_194248.2:c.4559G>A,NP_919224.1:p.Arg1520Gln,37/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,23.1,0.000259157,EXAC_AMR_AF,OTOF
427459,2:26688887:G>A,NM_194248.2:c.4558C>T,NP_919224.1:p.Arg1520Trp,37/47,\N,Unknown significance,\N,missense_variant,34,0.0000149898,EXAC_NFE_AF,OTOF
427460,2:26688887:G>T,NM_194248.2:c.4558C>A,NP_919224.1:p.Arg1520=,37/47,\N,Unknown significance,\N,synonymous_variant,13.93,0.000192234,EXAC_AFR_AF,OTOF
427461,2:26688890:T>C,NM_194248.2:c.4555A>G,NP_919224.1:p.Ile1519Val,37/47,\N,Unknown significance,\N,missense_variant,15.83,0.000115554,EXAC_EAS_AF,OTOF
427462,2:26688893:C>A,NM_194248.2:c.4552G>T,NP_919224.1:p.Ala1518Ser,37/47,\N,Unknown significance,\N,missense_variant,32,0.0000149903,EXAC_NFE_AF,OTOF
427463,2:26688893:C>T,NM_194248.2:c.4552G>A,NP_919224.1:p.Ala1518Thr,37/47,\N,Unknown significance,\N,missense_variant,33,0.003125,OTO_US_AF,OTOF
427464,2:26688894:G>A,NM_194248.2:c.4551C>T,NP_919224.1:p.Ile1517=,37/47,\N,Unknown significance,\N,synonymous_variant,14.32,0.0000299814,EXAC_NFE_AF,OTOF
427465,2:26688896:T>A,NM_194322.2:c.2479A>T,NP_919303.1:p.Ile827Phe,19/29,\N,Unknown significance,\N,missense_variant,28,0.001,1KG_SAS_AF,OTOF
427466,2:26688896:T>C,NM_194248.2:c.4549A>G,NP_919224.1:p.Ile1517Val,37/47,\N,Likely benign,\N,missense_variant,11.13,0.000116279,EVS_EA_AF,OTOF
427467,2:26688897:G>A,NM_194248.2:c.4548C>T,NP_919224.1:p.Tyr1516=,37/47,\N,Likely benign,\N,synonymous_variant,8.124,0.00182622,EXAC_AFR_AF,OTOF
427468,2:26688899:A>G,NM_194248.2:c.4546T>C,NP_919224.1:p.Tyr1516His,37/47,\N,Unknown significance,\N,missense_variant,28.8,0.0000149907,EXAC_NFE_AF,OTOF
427469,2:26688909:T>C,NM_194248.2:c.4536A>G,NP_919224.1:p.Lys1512=,37/47,\N,Unknown significance,\N,synonymous_variant,7.622,0.000226963,EVS_AA_AF,OTOF
427470,2:26688914:C>T,NM_194248.2:c.4531G>A,NP_919224.1:p.Gly1511Ser,37/47,\N,Unknown significance,\N,missense_variant,35,0.0000149952,EXAC_NFE_AF,OTOF
427471,2:26688915:G>A,NM_194248.2:c.4530C>T,NP_919224.1:p.Asn1510=,37/47,\N,Unknown significance,\N,synonymous_variant,10.03,0.0000864304,EXAC_AMR_AF,OTOF
427472,2:26688916:T>C,NM_194248.2:c.4529A>G,NP_919224.1:p.Asn1510Ser,37/47,\N,Unknown significance,\N,missense_variant,24.9,0.000226963,EVS_AA_AF,OTOF
427473,2:26688931:T>G,NM_194248.2:c.4514A>C,NP_919224.1:p.His1505Pro,37/47,\N,Unknown significance,\N,missense_variant,28.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427474,2:26688932:G>T,NM_194248.2:c.4513C>A,NP_919224.1:p.His1505Asn,37/47,\N,Unknown significance,\N,missense_variant,29.6,\N,\N,OTOF
427475,2:26688934:A>G,NM_194248.2:c.4511T>C,NP_919224.1:p.Leu1504Pro,37/47,\N,Unknown significance,\N,missense_variant,32,0.0000150096,EXAC_NFE_AF,OTOF
427476,2:26688937:T>C,NM_194322.2:c.2438A>G,NP_919303.1:p.Asp813Gly,19/29,\N,Unknown significance,\N,missense_variant,28.1,0.0000962835,EXAC_AFR_AF,OTOF
427477,2:26688938:C>A,NM_194248.2:c.4507G>T,NP_919224.1:p.Asp1503Tyr,37/47,\N,Unknown significance,\N,missense_variant,32,0.000060584,EXAC_SAS_AF,OTOF
427478,2:26688939:C>T,NM_194248.2:c.4506G>A,NP_919224.1:p.Thr1502=,37/47,\N,Unknown significance,\N,synonymous_variant,16.11,0.00110865,EXAC_OTH_AF,OTOF
427479,2:26688940:G>A,NM_194248.2:c.4505C>T,NP_919224.1:p.Thr1502Met,37/47,\N,Unknown significance,\N,missense_variant,32,0.0000866551,EXAC_AMR_AF,OTOF
427480,2:26688944:C>T,NM_004802.3:c.2200G>A,NP_004793.2:p.Ala734Thr,20/30,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.001,1KG_EAS_AF,OTOF
427481,2:26688954:G>C,NM_194248.2:c.4501-10C>G,\N,\N,36/46,Unknown significance,\N,intron_variant,5.19,0.0000606649,EXAC_SAS_AF,OTOF
427482,2:26688957:G>A,NM_194248.2:c.4501-13C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,4.179,0.0000606649,EXAC_SAS_AF,OTOF
427483,2:26688961:G>T,NM_194248.2:c.4501-17C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,1.323,0.000226963,EVS_AA_AF,OTOF
427484,2:26688969:G>A,NM_194248.2:c.4501-25C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,11.49,\N,\N,OTOF
427485,2:26688970:A>C,NM_194248.2:c.4501-26T>G,\N,\N,36/46,Unknown significance,\N,intron_variant,11.29,0.0000150843,EXAC_NFE_AF,OTOF
427486,2:26688972:C>A,NM_194248.2:c.4501-28G>T,\N,\N,36/46,Unknown significance,\N,intron_variant,12.45,0.000347625,EXAC_EAS_AF,OTOF
427487,2:26688989:C>CTCA,NM_194248.2:c.4501-48_4501-46dup,\N,\N,36/46,Unknown significance,\N,intron_variant,5.248,\N,\N,OTOF
427488,2:26688990:T>A,NM_194248.2:c.4501-46A>T,\N,\N,36/46,Unknown significance,\N,intron_variant,7.386,0.0000974659,EXAC_AFR_AF,OTOF
427489,2:26688990:T>G,NM_194248.2:c.4501-46A>C,\N,\N,36/46,Unknown significance,\N,intron_variant,6.22,0.0000609459,EXAC_SAS_AF,OTOF
427490,2:26688992:ATCT>A,NM_194248.2:c.4501-51_4501-49del,\N,\N,36/46,Unknown significance,\N,intron_variant,4.785,0.0000303555,EXAC_NFE_AF,OTOF
427491,2:26689027:T>C,NM_194248.2:c.4501-83A>G,\N,\N,36/46,Benign,\N,intron_variant,4.862,0.0121,1KG_AFR_AF,OTOF
427492,2:26689042:C>A,NM_194248.2:c.4501-98G>T,\N,\N,36/46,Benign,\N,intron_variant,3.329,0.007,1KG_EUR_AF,OTOF
427493,2:26689083:G>T,NM_194248.2:c.4501-139C>A,\N,\N,36/46,Benign,\N,intron_variant,6.826,0.0545,1KG_AFR_AF,OTOF
427494,2:26689114:C>T,NM_194248.2:c.4501-170G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,8.204,0.0041,1KG_SAS_AF,OTOF
427495,2:26689118:G>T,NM_194248.2:c.4501-174C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.864,0.001,1KG_EAS_AF,OTOF
427496,2:26689121:T>G,NM_194248.2:c.4501-177A>C,\N,\N,36/46,Unknown significance,\N,intron_variant,5.659,0.0008,1KG_AFR_AF,OTOF
427497,2:26689135:A>C,NM_194248.2:c.4501-191T>G,\N,\N,36/46,Unknown significance,\N,intron_variant,1.118,0.002,1KG_EAS_AF,OTOF
427498,2:26689197:GCTT>G,NM_194248.2:c.4501-256_4501-254del,\N,\N,36/46,Unknown significance,\N,intron_variant,3.88,0.004,1KG_EAS_AF,OTOF
427499,2:26689200:T>G,NM_194248.2:c.4501-256A>C,\N,\N,36/46,Unknown significance,\N,intron_variant,4.417,\N,\N,OTOF
427500,2:26689217:T>C,NM_194248.2:c.4501-273A>G,\N,\N,36/46,Unknown significance,\N,intron_variant,2.055,\N,\N,OTOF
427501,2:26689219:C>T,NM_194248.2:c.4501-275G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.69,\N,\N,OTOF
427502,2:26689233:C>T,NM_194248.2:c.4501-289G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,2.42,0.002,1KG_SAS_AF,OTOF
427503,2:26689235:C>A,NM_194248.2:c.4501-291G>T,\N,\N,36/46,Unknown significance,\N,intron_variant,0.609,0.003,1KG_AFR_AF,OTOF
427504,2:26689235:C>T,NM_194248.2:c.4501-291G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.611,0.0031,1KG_SAS_AF,OTOF
427505,2:26689265:C>T,NM_194248.2:c.4500+317G>A,\N,\N,36/46,Benign,\N,intron_variant,1.109,0.6649,1KG_AFR_AF,OTOF
427506,2:26689308:G>T,NM_194248.2:c.4500+274C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.023,\N,\N,OTOF
427507,2:26689318:C>G,NM_194248.2:c.4500+264G>C,\N,\N,36/46,Unknown significance,\N,intron_variant,1.63,\N,\N,OTOF
427508,2:26689325:C>T,NM_194248.2:c.4500+257G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,2.217,0.0014,1KG_AMR_AF,OTOF
427509,2:26689335:G>C,NM_194248.2:c.4500+247C>G,\N,\N,36/46,Unknown significance,\N,intron_variant,0.386,0.0014,1KG_AMR_AF,OTOF
427510,2:26689336:C>A,NM_194248.2:c.4500+246G>T,\N,\N,36/46,Unknown significance,\N,intron_variant,3.253,\N,\N,OTOF
427511,2:26689340:G>A,NM_194248.2:c.4500+242C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,3.307,0.0041,1KG_SAS_AF,OTOF
427512,2:26689346:A>T,NM_194248.2:c.4500+236T>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.838,0.001,1KG_SAS_AF,OTOF
427513,2:26689351:C>T,NM_194248.2:c.4500+231G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.898,0.0023,1KG_AFR_AF,OTOF
427514,2:26689352:G>A,NM_194248.2:c.4500+230C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,1.469,\N,\N,OTOF
427515,2:26689355:G>T,NM_194248.2:c.4500+227C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,0.133,0.0015,1KG_AFR_AF,OTOF
427516,2:26689367:G>A,NM_194248.2:c.4500+215C>T,\N,\N,36/46,Benign,\N,intron_variant,1.808,0.0098,1KG_AFR_AF,OTOF
427517,2:26689379:A>G,NM_194248.2:c.4500+203T>C,\N,\N,36/46,Unknown significance,\N,intron_variant,2.233,\N,\N,OTOF
427518,2:26689379:AT>A,NM_194248.2:c.4500+202del,\N,\N,36/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427519,2:26689390:A>G,NM_194248.2:c.4500+192T>C,\N,\N,36/46,Unknown significance,\N,intron_variant,0.746,\N,\N,OTOF
427520,2:26689394:G>A,NM_194248.2:c.4500+188C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,0.079,\N,\N,OTOF
427521,2:26689412:C>T,NM_194248.2:c.4500+170G>A,\N,\N,36/46,Benign,\N,intron_variant,1.999,0.0159,1KG_EUR_AF,OTOF
427522,2:26689445:T>C,NM_194248.2:c.4500+137A>G,\N,\N,36/46,Unknown significance,\N,intron_variant,1.333,\N,\N,OTOF
427523,2:26689448:T>TC,NM_194248.2:c.4500+133dup,\N,\N,36/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427524,2:26689458:G>C,NM_194248.2:c.4500+124C>G,\N,\N,36/46,Unknown significance,\N,intron_variant,0.804,0.001,1KG_EAS_AF,OTOF
427525,2:26689501:G>C,NM_194248.2:c.4500+81C>G,\N,\N,36/46,Unknown significance,\N,intron_variant,0.065,\N,\N,OTOF
427526,2:26689504:C>T,NM_194248.2:c.4500+78G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,3.313,0.0008,1KG_AFR_AF,OTOF
427527,2:26689535:GGGA>G,NM_194248.2:c.4500+44_4500+46del,\N,\N,36/46,Unknown significance,\N,intron_variant,0.942,0.0000150784,EXAC_NFE_AF,OTOF
427528,2:26689537:G>A,NM_194248.2:c.4500+45C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,3.321,0.000015068,EXAC_NFE_AF,OTOF
427529,2:26689544:A>G,NM_194248.2:c.4500+38T>C,\N,\N,36/46,Unknown significance,\N,intron_variant,1.683,\N,\N,OTOF
427530,2:26689546:G>A,NM_194248.2:c.4500+36C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,2.361,0.0000866401,EXAC_AMR_AF,OTOF
427531,2:26689549:A>G,NM_194248.2:c.4500+33T>C,\N,\N,36/46,Unknown significance,\N,intron_variant,1.71,0.000121212,EXAC_SAS_AF,OTOF
427532,2:26689551:T>A,NM_194248.2:c.4500+31A>T,\N,\N,36/46,Unknown significance,\N,intron_variant,3.007,0.000453926,EVS_AA_AF,OTOF
427533,2:26689557:G>C,NM_194248.2:c.4500+25C>G,\N,\N,36/46,Unknown significance,\N,intron_variant,4.016,0.0000601721,EXAC_NFE_AF,OTOF
427534,2:26689560:G>T,NM_194248.2:c.4500+22C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,5.637,0.00363141,EVS_AA_AF,OTOF
427535,2:26689568:G>A,NM_194248.2:c.4500+14C>T,\N,\N,36/46,Unknown significance,\N,intron_variant,0.232,0.0014,1KG_AMR_AF,OTOF
427536,2:26689570:C>A,NM_194248.2:c.4500+12G>T,\N,\N,36/46,Unknown significance,\N,intron_variant,1.462,0.000116279,EVS_EA_AF,OTOF
427537,2:26689570:C>T,NM_194248.2:c.4500+12G>A,\N,\N,36/46,Unknown significance,\N,intron_variant,1.427,0.001,1KG_SAS_AF,OTOF
427538,2:26689570:CG>C,NM_194248.2:c.4500+11del,\N,\N,36/46,Unknown significance,\N,intron_variant,2.97,0.0000150195,EXAC_NFE_AF,OTOF
427539,2:26689571:G>A,NM_194248.2:c.4500+11C>T,\N,\N,36/46,Likely benign,\N,intron_variant,2.583,0.0000865052,EXAC_AMR_AF,OTOF
427540,2:26689572:G>T,NM_194248.2:c.4500+10C>A,\N,\N,36/46,Unknown significance,\N,intron_variant,3.259,0.0014,1KG_AMR_AF,OTOF
427541,2:26689580:A>C,NM_194248.2:c.4500+2T>G,\N,\N,36/46,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_donor_variant,24.5,\N,\N,OTOF
427542,2:26689582:C>G,NM_194248.2:c.4500G>C,NP_919224.1:p.Arg1500=,36/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.14,0.000226963,EVS_AA_AF,OTOF
427543,2:26689583:C>T,NM_194248.2:c.4499G>A,NP_919224.1:p.Arg1500Gln,36/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000115714,EXAC_EAS_AF,OTOF
427544,2:26689584:G>C,NM_194322.2:c.2428C>G,NP_919303.1:p.Arg810Gly,18/29,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.5,0.0000150074,EXAC_NFE_AF,OTOF
427545,2:26689586:A>G,NM_194248.2:c.4496T>C,NP_919224.1:p.Val1499Ala,36/47,\N,Unknown significance,\N,missense_variant,27.5,0.0000150033,EXAC_NFE_AF,OTOF
427546,2:26689588:C>G,NM_194248.2:c.4494G>C,NP_919224.1:p.Val1498=,36/47,\N,Unknown significance,\N,synonymous_variant,11.46,0.0000605767,EXAC_SAS_AF,OTOF
427547,2:26689589:A>C,NM_194248.2:c.4493T>G,NP_919224.1:p.Val1498Gly,36/47,\N,Unknown significance,\N,missense_variant,27.2,0.000121153,EXAC_SAS_AF,OTOF
427548,2:26689591:A>T,NM_194248.2:c.4491T>A,NP_919224.1:p.Tyr1497Ter,36/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,42,\N,\N,OTOF
427549,2:26689598:C>T,NM_194248.2:c.4484G>A,NP_919224.1:p.Arg1495Gln,36/47,\N,Unknown significance,\N,missense_variant,35,0.0043,1KG_AMR_AF,OTOF
427550,2:26689599:G>A,NM_194248.2:c.4483C>T,NP_919224.1:p.Arg1495Ter,36/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,49,0.001,1KG_SAS_AF,OTOF
427551,2:26689599:G>T,NM_194248.2:c.4483C>A,NP_919224.1:p.Arg1495=,36/47,\N,Likely benign,\N,synonymous_variant,13.22,0.000453926,EVS_AA_AF,OTOF
427552,2:26689605:G>A,NM_194248.2:c.4477C>T,NP_919224.1:p.Leu1493=,36/47,\N,Unknown significance,\N,synonymous_variant,11.51,0.0000961908,EXAC_AFR_AF,OTOF
427553,2:26689608:C>T,NM_194248.2:c.4474G>A,NP_919224.1:p.Val1492Met,36/47,\N,Unknown significance,\N,missense_variant,29.7,0.001,1KG_EAS_AF,OTOF
427554,2:26689614:T>TG,NM_194248.2:c.4467dup,NP_919224.1:p.Ile1490HisfsTer19,36/47,\N,Pathogenic,Deafness| non-syndromic| autosomal recessive,frameshift_variant,35,\N,\N,OTOF
427555,2:26689619:T>A,NM_194248.2:c.4463A>T,NP_919224.1:p.Asp1488Val,36/47,\N,Unknown significance,\N,missense_variant,29.6,0.003,1KG_EUR_AF,OTOF
427556,2:26689619:T>G,NM_194248.2:c.4463A>C,NP_919224.1:p.Asp1488Ala,36/47,\N,Unknown significance,\N,missense_variant,25.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427557,2:26689620:C>T,NM_194248.2:c.4462G>A,NP_919224.1:p.Asp1488Asn,36/47,\N,Unknown significance,\N,missense_variant,25.7,0.0014,1KG_AMR_AF,OTOF
427558,2:26689620:C>A,NM_194248.2:c.4462G>T,NP_919224.1:p.Asp1488Tyr,36/47,\N,Unknown significance,\N,missense_variant,27.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427559,2:26689623:T>C,NM_194248.2:c.4459A>G,NP_919224.1:p.Asn1487Asp,36/47,\N,Unknown significance,\N,missense_variant,27.8,0.000226963,EVS_AA_AF,OTOF
427560,2:26689627:C>T,NM_194248.2:c.4455G>A,NP_919224.1:p.Pro1485=,36/47,\N,Unknown significance,\N,synonymous_variant,11.54,0.000060562,EXAC_SAS_AF,OTOF
427561,2:26689628:G>A,NM_194248.2:c.4454C>T,NP_919224.1:p.Pro1485Leu,36/47,\N,Unknown significance,\N,missense_variant,34,0.0019685,EXAC_FIN_AF,OTOF
427562,2:26689633:GC>G,NM_194248.2:c.4448del,NP_919224.1:p.Gly1483AlafsTer39,36/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000149975,EXAC_NFE_AF,OTOF
427563,2:26689642:C>A,NM_194248.2:c.4440G>T,NP_919224.1:p.Met1480Ile,36/47,\N,Unknown significance,\N,missense_variant,24.4,0.0000449897,EXAC_NFE_AF,OTOF
427564,2:26689646:C>A,NM_194248.2:c.4436G>T,NP_919224.1:p.Gly1479Val,36/47,\N,Unknown significance,\N,missense_variant,33,0.000480954,EXAC_AFR_AF,OTOF
427565,2:26689647:C>T,NM_194248.2:c.4435G>A,NP_919224.1:p.Gly1479Ser,36/47,\N,Unknown significance,\N,missense_variant,29.5,0.00173144,EXAC_AFR_AF,OTOF
427566,2:26689648:G>A,NM_194248.2:c.4434C>T,NP_919224.1:p.Tyr1478=,36/47,\N,Unknown significance,\N,synonymous_variant,9.899,0.001,1KG_EAS_AF,OTOF
427567,2:26689653:T>C,NM_194248.2:c.4429A>G,NP_919224.1:p.Thr1477Ala,36/47,\N,Likely benign,\N,missense_variant,14.75,0.0000149997,EXAC_NFE_AF,OTOF
427568,2:26689653:T>G,NM_194248.2:c.4429A>C,NP_919224.1:p.Thr1477Pro,36/47,\N,Unknown significance,\N,missense_variant,24.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427569,2:26689658:T>G,NM_194248.2:c.4424A>C,NP_919224.1:p.Asp1475Ala,36/47,\N,Unknown significance,\N,missense_variant,29.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427570,2:26689659:C>T,NM_194248.2:c.4423G>A,NP_919224.1:p.Asp1475Asn,36/47,\N,Unknown significance,\N,missense_variant,34,0.000115634,EXAC_EAS_AF,OTOF
427571,2:26689660:G>A,NM_194248.2:c.4422C>T,NP_919224.1:p.Tyr1474=,36/47,\N,Unknown significance,\N,synonymous_variant,9.85,0.0000961723,EXAC_AFR_AF,OTOF
427572,2:26689661:T>C,NM_194248.2:c.4421A>G,NP_919224.1:p.Tyr1474Cys,36/47,\N,Unknown significance,\N,missense_variant,23.9,0.0000149997,EXAC_NFE_AF,OTOF
427573,2:26689665:C>A,NM_194248.2:c.4417G>T,NP_919224.1:p.Gly1473Cys,36/47,\N,Pathogenic,Deafness,missense_variant,34,0.0000149993,EXAC_NFE_AF,OTOF
427574,2:26689665:C>T,NM_194248.2:c.4417G>A,NP_919224.1:p.Gly1473Ser,36/47,\N,Unknown significance,\N,missense_variant,23.9,0.000226963,EVS_AA_AF,OTOF
427575,2:26689666:G>A,NM_194248.2:c.4416C>T,NP_919224.1:p.Ala1472=,36/47,\N,Unknown significance,\N,synonymous_variant,14.27,0.000288517,EXAC_AFR_AF,OTOF
427576,2:26689673:C>T,NM_194248.2:c.4409G>A,NP_919224.1:p.Arg1470Gln,36/47,\N,Unknown significance,\N,missense_variant,23.4,0.000231267,EXAC_EAS_AF,OTOF
427577,2:26689674:G>A,NM_194248.2:c.4408C>T,NP_919224.1:p.Arg1470Trp,36/47,\N,Unknown significance,\N,missense_variant,25,0.000226963,EVS_AA_AF,OTOF
427578,2:26689676:G>C,NM_194248.2:c.4406C>G,NP_919224.1:p.Ser1469Cys,36/47,\N,Unknown significance,\N,missense_variant,26.3,0.0000863707,EXAC_AMR_AF,OTOF
427579,2:26689679:A>G,NM_194248.2:c.4403T>C,NP_919224.1:p.Val1468Ala,36/47,\N,Unknown significance,\N,missense_variant,18.97,\N,\N,OTOF
427580,2:26689680:C>T,NM_194248.2:c.4402G>A,NP_919224.1:p.Val1468Met,36/47,\N,Likely benign,\N,missense_variant,21.6,0.00068089,EVS_AA_AF,OTOF
427581,2:26689681:G>A,NM_194248.2:c.4401C>T,NP_919224.1:p.Asp1467=,36/47,\N,Unknown significance,\N,synonymous_variant,12.73,0.000863707,EXAC_AMR_AF,OTOF
427582,2:26689681:G>T,NM_194248.2:c.4401C>A,NP_919224.1:p.Asp1467Glu,36/47,\N,Likely benign,\N,missense_variant,11.35,0.000115634,EXAC_EAS_AF,OTOF
427583,2:26689683:C>A,NM_194248.2:c.4399G>T,NP_919224.1:p.Asp1467Tyr,36/47,\N,Unknown significance,\N,missense_variant,27.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427584,2:26689693:T>G,NM_194248.2:c.4389A>C,NP_919224.1:p.Pro1463=,36/47,\N,Unknown significance,\N,synonymous_variant,9.96,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427585,2:26689704:A>T,NM_194248.2:c.4378T>A,NP_919224.1:p.Tyr1460Asn,36/47,\N,Unknown significance,\N,missense_variant,28.1,0.0000150087,EXAC_NFE_AF,OTOF
427586,2:26689705:C>A,NM_194248.2:c.4377G>T,NP_919224.1:p.Val1459=,36/47,\N,Unknown significance,\N,synonymous_variant,17.09,0.000453926,EVS_AA_AF,OTOF
427587,2:26689707:C>T,NM_194248.2:c.4375G>A,NP_919224.1:p.Val1459Met,36/47,\N,Likely benign,\N,missense_variant,23.1,0.000192604,EXAC_AFR_AF,OTOF
427588,2:26689708:G>A,NM_194248.2:c.4374C>T,NP_919224.1:p.Cys1458=,36/47,\N,Unknown significance,\N,synonymous_variant,14.24,0.000346981,EXAC_EAS_AF,OTOF
427589,2:26689723:G>A,NM_194248.2:c.4363-4C>T,\N,\N,35/46,Unknown significance,\N,splice_region_variant&intron_variant,4.074,0.0000150191,EXAC_NFE_AF,OTOF
427590,2:26689725:C>T,NM_194248.2:c.4363-6G>A,\N,\N,35/46,Unknown significance,\N,splice_region_variant&intron_variant,3.545,0.000345781,EXAC_AMR_AF,OTOF
427591,2:26689730:C>G,NM_194248.2:c.4363-11G>C,\N,\N,35/46,Unknown significance,\N,intron_variant,4.692,0.0000864454,EXAC_AMR_AF,OTOF
427592,2:26689730:CA>C,NM_194248.2:c.4363-12del,\N,\N,35/46,Unknown significance,\N,intron_variant,7.198,0.0000150227,EXAC_NFE_AF,OTOF
427593,2:26689755:G>C,NM_194248.2:c.4363-36C>G,\N,\N,35/46,Unknown significance,\N,intron_variant,0.52,0.0000150435,EXAC_NFE_AF,OTOF
427594,2:26689760:G>T,NM_194248.2:c.4363-41C>A,\N,\N,35/46,Unknown significance,\N,intron_variant,3.685,0.0000150521,EXAC_NFE_AF,OTOF
427595,2:26689761:C>G,NM_194248.2:c.4363-42G>C,\N,\N,35/46,Unknown significance,\N,intron_variant,6.164,0.0000150539,EXAC_NFE_AF,OTOF
427596,2:26689764:G>C,NM_194248.2:c.4363-45C>G,\N,\N,35/46,Unknown significance,\N,intron_variant,2.678,0.000453926,EVS_AA_AF,OTOF
427597,2:26689800:C>T,NM_194248.2:c.4363-81G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,2.779,\N,\N,OTOF
427598,2:26689853:G>A,NM_194248.2:c.4362+114C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,0.961,0.001,1KG_EAS_AF,OTOF
427599,2:26689858:G>C,NM_194248.2:c.4362+109C>G,\N,\N,35/46,Unknown significance,\N,intron_variant,1.315,0.002,1KG_EAS_AF,OTOF
427600,2:26689864:C>T,NM_194248.2:c.4362+103G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,4.027,0.001,1KG_SAS_AF,OTOF
427601,2:26689869:G>A,NM_194248.2:c.4362+98C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,5.451,0.0008,1KG_AFR_AF,OTOF
427602,2:26689894:G>A,NM_194248.2:c.4362+73C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,3.3,0.001,1KG_EAS_AF,OTOF
427603,2:26689902:G>C,NM_194248.2:c.4362+65C>G,\N,\N,35/46,Benign,\N,intron_variant,0.417,0.0101,1KG_AMR_AF,OTOF
427604,2:26689911:G>GT,NM_194248.2:c.4362+55dup,\N,\N,35/46,Benign,\N,intron_variant,2.398,0.0159,1KG_EUR_AF,OTOF
427605,2:26689911:GT>G,NM_194248.2:c.4362+55del,\N,\N,35/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427606,2:26689912:TG>T,NM_194248.2:c.4362+54del,\N,\N,35/46,Unknown significance,\N,intron_variant,1.309,\N,\N,OTOF
427607,2:26689913:G>A,NM_194248.2:c.4362+54C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,1.653,\N,\N,OTOF
427608,2:26689913:GG>A,NM_194248.2:c.4362+53_4362+54delinsT,\N,\N,35/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427609,2:26689914:G>A,NM_194248.2:c.4362+53C>T,\N,\N,35/46,Benign,\N,intron_variant,5.237,0.5719,1KG_AFR_AF,OTOF
427610,2:26689914:G>C,NM_194248.2:c.4362+53C>G,\N,\N,35/46,Unknown significance,\N,intron_variant,1.927,0.002,1KG_SAS_AF,OTOF
427611,2:26689914:G>T,NM_194248.2:c.4362+53C>A,\N,\N,35/46,Unknown significance,\N,intron_variant,2.519,0.0023,1KG_AFR_AF,OTOF
427612,2:26689915:G>T,NM_194248.2:c.4362+52C>A,\N,\N,35/46,Unknown significance,\N,intron_variant,1.509,0.0031,1KG_SAS_AF,OTOF
427613,2:26689916:G>A,NM_194248.2:c.4362+51C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,2.842,0.0000874126,EXAC_AMR_AF,OTOF
427614,2:26689916:G>C,NM_194248.2:c.4362+51C>G,\N,\N,35/46,Unknown significance,\N,intron_variant,0.6,0.000202102,EXAC_AFR_AF,OTOF
427615,2:26689916:G>T,NM_194248.2:c.4362+51C>A,\N,\N,35/46,Unknown significance,\N,intron_variant,1.328,0.00200657,EXAC_SAS_AF,OTOF
427616,2:26689917:G>A,NM_194248.2:c.4362+50C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,3.103,0.00165328,EXAC_EAS_AF,OTOF
427617,2:26689918:G>A,NM_194248.2:c.4362+49C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,3.985,0.000100888,EXAC_AFR_AF,OTOF
427618,2:26689920:G>A,NM_194248.2:c.4362+47C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,2.271,0.0000310087,EXAC_NFE_AF,OTOF
427619,2:26689922:A>G,NM_194248.2:c.4362+45T>C,\N,\N,35/46,Unknown significance,\N,intron_variant,0.712,0.0000154765,EXAC_NFE_AF,OTOF
427620,2:26689927:C>T,NM_194248.2:c.4362+40G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,3.489,0.0008,1KG_AFR_AF,OTOF
427621,2:26689931:C>T,NM_194248.2:c.4362+36G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,1.159,0.000591156,EXAC_EAS_AF,OTOF
427622,2:26689932:G>A,NM_194248.2:c.4362+35C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,9.622,0.0008,1KG_AFR_AF,OTOF
427623,2:26689934:G>A,NM_194248.2:c.4362+33C>T,\N,\N,35/46,Unknown significance,\N,intron_variant,9.664,0.0041,1KG_SAS_AF,OTOF
427624,2:26689935:T>A,NM_194248.2:c.4362+32A>T,\N,\N,35/46,Unknown significance,\N,intron_variant,12.54,\N,\N,OTOF
427625,2:26689935:T>G,NM_194248.2:c.4362+32A>C,\N,\N,35/46,Benign,\N,intron_variant,11.8,0.225,OTO_TR_AF,OTOF
427626,2:26689950:C>T,NM_194248.2:c.4362+17G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,1.451,0.0000872144,EXAC_AMR_AF,OTOF
427627,2:26689952:T>G,NM_194248.2:c.4362+15A>C,\N,\N,35/46,Unknown significance,\N,intron_variant,0.367,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427628,2:26689955:T>A,NM_194248.2:c.4362+12A>T,\N,\N,35/46,Unknown significance,\N,intron_variant,9.991,0.0000152844,EXAC_NFE_AF,OTOF
427629,2:26689957:C>T,NM_194248.2:c.4362+10G>A,\N,\N,35/46,Unknown significance,\N,intron_variant,5.648,0.000226963,EVS_AA_AF,OTOF
427630,2:26689965:A>C,NM_194248.2:c.4362+2T>G,\N,\N,35/46,Pathogenic,Deafness| non-syndromic,splice_donor_variant,23.4,\N,\N,OTOF
427631,2:26689974:C>T,NM_194248.2:c.4355G>A,NP_919224.1:p.Arg1452His,35/47,\N,Unknown significance,\N,missense_variant,34,0.0000303444,EXAC_NFE_AF,OTOF
427632,2:26689975:G>A,NM_001287489.1:c.4354C>T,NP_001274418.1:p.Arg1452Cys,35/46,\N,Unknown significance,\N,missense_variant,32,0.0000868961,EXAC_AMR_AF,OTOF
427633,2:26689975:G>T,NM_194248.2:c.4354C>A,NP_919224.1:p.Arg1452Ser,35/47,\N,Likely benign,\N,missense_variant,24.6,0.001,1KG_EUR_AF,OTOF
427634,2:26689977:C>A,NM_194248.2:c.4352G>T,NP_919224.1:p.Gly1451Val,35/47,\N,Unknown significance,\N,missense_variant,33,0.0000151492,EXAC_NFE_AF,OTOF
427635,2:26689978:C>A,NM_194248.2:c.4351G>T,NP_919224.1:p.Gly1451Ter,35/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,48,\N,\N,OTOF
427636,2:26689983:A>G,NM_194248.2:c.4346T>C,NP_919224.1:p.Ile1449Thr,35/47,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,OTOF
427637,2:26689986:C>T,NM_194248.2:c.4343G>A,NP_919224.1:p.Arg1448His,35/47,\N,Unknown significance,\N,missense_variant,35,0.000116279,EVS_EA_AF,OTOF
427638,2:26689987:G>A,NM_194248.2:c.4342C>T,NP_919224.1:p.Arg1448Cys,35/47,\N,Unknown significance,\N,missense_variant,34,0.00023359,EXAC_EAS_AF,OTOF
427639,2:26689988:C>T,NM_194248.2:c.4341G>A,NP_919224.1:p.Glu1447=,35/47,\N,Benign,\N,synonymous_variant,14.63,0.1044,1KG_AFR_AF,OTOF
427640,2:26689988:C>A,NM_194248.2:c.4341G>T,NP_919224.1:p.Glu1447Asp,35/47,\N,Unknown significance,\N,missense_variant,12.92,0.000152393,EXAC_FIN_AF,OTOF
427641,2:26689990:C>T,NM_194248.2:c.4339G>A,NP_919224.1:p.Glu1447Lys,35/47,\N,Unknown significance,\N,missense_variant,24.5,0.0014,1KG_AMR_AF,OTOF
427642,2:26689991:C>T,NM_194248.2:c.4338G>A,NP_919224.1:p.Glu1446=,35/47,\N,Unknown significance,\N,synonymous_variant,16.13,\N,\N,OTOF
427643,2:26689996:CGGT>C,NM_194248.2:c.4330_4332del,NP_919224.1:p.Thr1444del,35/47,\N,Unknown significance,\N,inframe_deletion,15.59,0.0000606061,EXAC_SAS_AF,OTOF
427644,2:26689996:C>T,NM_194248.2:c.4333G>A,NP_919224.1:p.Glu1445Lys,35/47,\N,Unknown significance,\N,missense_variant,33,0.000181818,EXAC_SAS_AF,OTOF
427645,2:26689997:G>A,NM_194248.2:c.4332C>T,NP_919224.1:p.Thr1444=,35/47,\N,Benign,\N,synonymous_variant,11.43,0.025,OTO_AJ_AF,OTOF
427646,2:26689997:G>T,NM_194248.2:c.4332C>A,NP_919224.1:p.Thr1444=,35/47,\N,Unknown significance,\N,synonymous_variant,9.789,0.00017319,EXAC_AMR_AF,OTOF
427647,2:26690001:G>A,NM_004802.3:c.2027C>T,NP_004793.2:p.Ser676Phe,18/30,\N,Unknown significance,\N,missense_variant,17.53,0.000232558,EVS_EA_AF,OTOF
427648,2:26690003:G>T,NM_194248.2:c.4326C>A,NP_919224.1:p.Gly1442=,35/47,\N,Unknown significance,\N,synonymous_variant,9.139,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427649,2:26690005:C>T,NM_194248.2:c.4324G>A,NP_919224.1:p.Gly1442Ser,35/47,\N,Likely benign,\N,missense_variant,22.4,0.000226963,EVS_AA_AF,OTOF
427650,2:26690016:T>A,NM_001287489.1:c.4313A>T,NP_001274418.1:p.Asp1438Val,35/46,\N,Unknown significance,\N,missense_variant,27.9,0.0000963763,EXAC_AFR_AF,OTOF
427651,2:26690021:G>A,NM_194248.2:c.4308C>T,NP_919224.1:p.Thr1436=,35/47,\N,Unknown significance,\N,synonymous_variant,11.16,0.00110375,EXAC_OTH_AF,OTOF
427652,2:26690021:G>C,NM_194248.2:c.4308C>G,NP_919224.1:p.Thr1436=,35/47,\N,Unknown significance,\N,synonymous_variant,9.371,0.0008,1KG_AFR_AF,OTOF
427653,2:26690022:G>A,NM_194248.2:c.4307C>T,NP_919224.1:p.Thr1436Ile,35/47,\N,Unknown significance,\N,missense_variant,20.5,0.001,1KG_EUR_AF,OTOF
427654,2:26690031:C>T,NM_194248.2:c.4298G>A,NP_919224.1:p.Arg1433Gln,35/47,\N,Unknown significance,\N,missense_variant,35,0.0000150083,EXAC_NFE_AF,OTOF
427655,2:26690032:G>A,NM_194248.2:c.4297C>T,NP_919224.1:p.Arg1433Trp,35/47,\N,Unknown significance,\N,missense_variant,34,0.0000864006,EXAC_AMR_AF,OTOF
427656,2:26690037:A>G,NM_194248.2:c.4292T>C,NP_919224.1:p.Leu1431Ser,35/47,\N,Unknown significance,\N,missense_variant,29.5,0.0000605694,EXAC_SAS_AF,OTOF
427657,2:26690038:A>G,NM_194248.2:c.4291T>C,NP_919224.1:p.Leu1431=,35/47,\N,Unknown significance,\N,synonymous_variant,6.872,\N,\N,OTOF
427658,2:26690039:G>A,NM_194248.2:c.4290C>T,NP_919224.1:p.Asn1430=,35/47,\N,Unknown significance,\N,synonymous_variant,9.958,0.0031,1KG_SAS_AF,OTOF
427659,2:26690040:T>C,NM_194248.2:c.4289A>G,NP_919224.1:p.Asn1430Ser,35/47,\N,Unknown significance,\N,missense_variant,13.29,0.00110375,EXAC_OTH_AF,OTOF
427660,2:26690046:G>T,NM_194248.2:c.4283C>A,NP_919224.1:p.Thr1428Asn,35/47,\N,Unknown significance,\N,missense_variant,26.6,0.0000605694,EXAC_SAS_AF,OTOF
427661,2:26690054:C>T,NM_194248.2:c.4275G>A,NP_919224.1:p.Trp1425Ter,35/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,46,\N,\N,OTOF
427662,2:26690060:C>G,NM_001287489.1:c.4269G>C,NP_001274418.1:p.Glu1423Asp,35/46,\N,Unknown significance,\N,missense_variant,25,0.000172771,EXAC_AMR_AF,OTOF
427663,2:26690068:T>C,NM_194248.2:c.4261A>G,NP_919224.1:p.Asn1421Asp,35/47,\N,Unknown significance,\N,missense_variant,22,0.000060562,EXAC_SAS_AF,OTOF
427664,2:26690077:C>T,NM_001287489.1:c.4252G>A,NP_001274418.1:p.Glu1418Lys,35/46,\N,Unknown significance,\N,missense_variant,26.7,0.000288406,EXAC_AFR_AF,OTOF
427665,2:26690078:G>A,NM_194248.2:c.4251C>T,NP_919224.1:p.Ser1417=,35/47,\N,Unknown significance,\N,synonymous_variant,11.78,0.000116279,EVS_EA_AF,OTOF
427666,2:26690080:A>C,NM_194248.2:c.4249T>G,NP_919224.1:p.Ser1417Ala,35/47,\N,Unknown significance,\N,missense_variant,8.211,0.00068089,EVS_AA_AF,OTOF
427667,2:26690086:G>A,NM_194248.2:c.4243C>T,NP_919224.1:p.Leu1415=,35/47,\N,Unknown significance,\N,synonymous_variant,9.068,0.0000149894,EXAC_NFE_AF,OTOF
427668,2:26690100:A>G,NM_194248.2:c.4229T>C,NP_919224.1:p.Val1410Ala,35/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,25,0.0000149907,EXAC_NFE_AF,OTOF
427669,2:26690102:C>T,NM_194248.2:c.4228-1G>A,\N,\N,34/46,Likely pathogenic,Deafness| autosomal recessive 9,splice_acceptor_variant,17.44,\N,\N,OTOF
427670,2:26690103:T>C,NM_194248.2:c.4228-2A>G,\N,\N,34/46,Unknown significance,\N,splice_acceptor_variant,17.8,0.000060562,EXAC_SAS_AF,OTOF
427671,2:26690112:C>T,NM_194248.2:c.4228-11G>A,\N,\N,34/46,Unknown significance,\N,intron_variant,2.192,\N,\N,OTOF
427672,2:26690124:G>C,NM_194248.2:c.4228-23C>G,\N,\N,34/46,Unknown significance,\N,intron_variant,7.706,0.0000961723,EXAC_AFR_AF,OTOF
427673,2:26690127:G>T,NM_194248.2:c.4228-26C>A,\N,\N,34/46,Unknown significance,\N,intron_variant,1.536,0.000116279,EVS_EA_AF,OTOF
427674,2:26690128:C>T,NM_194248.2:c.4228-27G>A,\N,\N,34/46,Unknown significance,\N,intron_variant,1.082,0.000060562,EXAC_SAS_AF,OTOF
427675,2:26690132:T>C,NM_194248.2:c.4228-31A>G,\N,\N,34/46,Unknown significance,\N,intron_variant,2.944,0.0000299814,EXAC_NFE_AF,OTOF
427676,2:26690133:G>T,NM_194248.2:c.4228-32C>A,\N,\N,34/46,Unknown significance,\N,intron_variant,3.081,\N,\N,OTOF
427677,2:26690137:G>C,NM_194248.2:c.4228-36C>G,\N,\N,34/46,Unknown significance,\N,intron_variant,3.152,0.000060562,EXAC_SAS_AF,OTOF
427678,2:26690150:T>C,NM_194248.2:c.4228-49A>G,\N,\N,34/46,Unknown significance,\N,intron_variant,1.321,0.000116279,EVS_EA_AF,OTOF
427679,2:26690153:C>T,NM_194248.2:c.4228-52G>A,\N,\N,34/46,Unknown significance,\N,intron_variant,8.132,0.0000149934,EXAC_NFE_AF,OTOF
427680,2:26690164:T>A,NM_194248.2:c.4228-63A>T,\N,\N,34/46,Unknown significance,\N,intron_variant,6.841,0.0008,1KG_AFR_AF,OTOF
427681,2:26690167:A>T,NM_194248.2:c.4227+66T>A,\N,\N,34/46,Unknown significance,\N,intron_variant,0.962,0.0023,1KG_AFR_AF,OTOF
427682,2:26690177:C>A,NM_194248.2:c.4227+56G>T,\N,\N,34/46,Unknown significance,\N,intron_variant,2.105,0.001,1KG_EAS_AF,OTOF
427683,2:26690183:C>A,NM_194248.2:c.4227+50G>T,\N,\N,34/46,Unknown significance,\N,intron_variant,5.513,0.0000864006,EXAC_AMR_AF,OTOF
427684,2:26690186:C>T,NM_194248.2:c.4227+47G>A,\N,\N,34/46,Unknown significance,\N,intron_variant,5.059,0.000453926,EVS_AA_AF,OTOF
427685,2:26690191:C>T,NM_194248.2:c.4227+42G>A,\N,\N,34/46,Benign,\N,intron_variant,2.996,0.00555556,OTO_ES_AF,OTOF
427686,2:26690192:G>A,NM_194248.2:c.4227+41C>T,\N,\N,34/46,Unknown significance,\N,intron_variant,0.402,0.0000149948,EXAC_NFE_AF,OTOF
427687,2:26690192:G>T,NM_194248.2:c.4227+41C>A,\N,\N,34/46,Unknown significance,\N,intron_variant,0.141,0.000226963,EVS_AA_AF,OTOF
427688,2:26690193:C>G,NM_194248.2:c.4227+40G>C,\N,\N,34/46,Benign,\N,intron_variant,2.386,0.0204174,EXAC_FIN_AF,OTOF
427689,2:26690193:C>T,NM_194248.2:c.4227+40G>A,\N,\N,34/46,Unknown significance,\N,intron_variant,4.268,0.0000149934,EXAC_NFE_AF,OTOF
427690,2:26690197:C>A,NM_194248.2:c.4227+36G>T,\N,\N,34/46,Unknown significance,\N,intron_variant,4.919,0.0041,1KG_SAS_AF,OTOF
427691,2:26690198:A>G,NM_194248.2:c.4227+35T>C,\N,\N,34/46,Unknown significance,\N,intron_variant,3.879,0.00011558,EXAC_EAS_AF,OTOF
427692,2:26690212:G>T,NM_194248.2:c.4227+21C>A,\N,\N,34/46,Unknown significance,\N,intron_variant,0.983,0.001,1KG_EUR_AF,OTOF
427693,2:26690213:G>T,NM_194248.2:c.4227+20C>A,\N,\N,34/46,Unknown significance,\N,intron_variant,0.054,0.00011558,EXAC_EAS_AF,OTOF
427694,2:26690223:AG>A,NM_194248.2:c.4227+9del,\N,\N,34/46,Unknown significance,\N,intron_variant,3.276,\N,\N,OTOF
427695,2:26690224:G>A,NM_194248.2:c.4227+9C>T,\N,\N,34/46,Unknown significance,\N,intron_variant,5.521,0.001,1KG_EUR_AF,OTOF
427696,2:26690228:C>G,NM_194248.2:c.4227+5G>C,\N,\N,34/46,Unknown significance,\N,splice_region_variant&intron_variant,10.22,0.001,1KG_EAS_AF,OTOF
427697,2:26690231:A>C,NM_194248.2:c.4227+2T>G,\N,\N,34/46,Unknown significance,\N,splice_donor_variant,24.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427698,2:26690232:C>A,NM_194248.2:c.4227+1G>T,\N,\N,34/46,Pathogenic,Deafness| non-syndromic,splice_donor_variant,25.1,0.0000149894,EXAC_NFE_AF,OTOF
427699,2:26690235:T>A,NM_194248.2:c.4225A>T,NP_919224.1:p.Lys1409Ter,34/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained&splice_region_variant,41,\N,\N,OTOF
427700,2:26690240:T>C,NM_194248.2:c.4220A>G,NP_919224.1:p.Glu1407Gly,34/47,\N,Unknown significance,\N,missense_variant,23,0.0000899361,EXAC_NFE_AF,OTOF
427701,2:26690244:C>T,NM_194248.2:c.4216G>A,NP_919224.1:p.Asp1406Asn,34/47,\N,Unknown significance,\N,missense_variant,23.3,0.00204267,EVS_AA_AF,OTOF
427702,2:26690247:T>C,NM_194248.2:c.4213A>G,NP_919224.1:p.Ile1405Val,34/47,\N,Unknown significance,\N,missense_variant,16.55,0.001,1KG_EUR_AF,OTOF
427703,2:26690262:TCTC>T,NM_194248.2:c.4195_4197del,NP_919224.1:p.Glu1399del,34/47,\N,Unknown significance,\N,inframe_deletion,14.58,0.0000149916,EXAC_NFE_AF,OTOF
427704,2:26690265:C>T,NM_194248.2:c.4195G>A,NP_919224.1:p.Glu1399Lys,34/47,\N,Likely benign,\N,missense_variant,16.58,0.000231589,EXAC_EAS_AF,OTOF
427705,2:26690266:G>A,NM_194248.2:c.4194C>T,NP_919224.1:p.Pro1398=,34/47,\N,Unknown significance,\N,synonymous_variant,1.785,0.000115794,EXAC_EAS_AF,OTOF
427706,2:26690267:G>A,NM_194248.2:c.4193C>T,NP_919224.1:p.Pro1398Leu,34/47,\N,Likely benign,\N,missense_variant,0.207,0.000226963,EVS_AA_AF,OTOF
427707,2:26690272:C>T,NM_194248.2:c.4188G>A,NP_919224.1:p.Glu1396=,34/47,\N,Unknown significance,\N,synonymous_variant,10.37,0.000060584,EXAC_SAS_AF,OTOF
427708,2:26690274:C>T,NM_194248.2:c.4186G>A,NP_919224.1:p.Glu1396Lys,34/47,\N,Likely benign,\N,missense_variant,15.16,0.000463285,EXAC_EAS_AF,OTOF
427709,2:26690275:G>A,NM_194248.2:c.4185C>T,NP_919224.1:p.Ser1395=,34/47,\N,Unknown significance,\N,synonymous_variant,6.854,0.000231642,EXAC_EAS_AF,OTOF
427710,2:26690277:A>C,NM_194248.2:c.4183T>G,NP_919224.1:p.Ser1395Ala,34/47,\N,Likely benign,\N,missense_variant,0.001,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427711,2:26690279:C>T,NM_194248.2:c.4181G>A,NP_919224.1:p.Gly1394Glu,34/47,\N,Likely benign,\N,missense_variant,10.75,0.0000605914,EXAC_SAS_AF,OTOF
427712,2:26690286:C>G,NM_194248.2:c.4174G>C,NP_919224.1:p.Gly1392Arg,34/47,\N,Likely benign,\N,missense_variant,0.474,0.0000150137,EXAC_NFE_AF,OTOF
427713,2:26690289:A>G,NM_194248.2:c.4171T>C,NP_919224.1:p.Ser1391Pro,34/47,\N,Likely benign,\N,missense_variant,3.07,0.0000150168,EXAC_NFE_AF,OTOF
427714,2:26690303:G>A,NM_194248.2:c.4157C>T,NP_919224.1:p.Thr1386Ile,34/47,\N,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,missense_variant,0.326,\N,\N,OTOF
427715,2:26690303:G>C,NM_194248.2:c.4157C>G,NP_919224.1:p.Thr1386Ser,34/47,\N,Likely benign,\N,missense_variant,0.002,0.0000150566,EXAC_NFE_AF,OTOF
427716,2:26690305:TTTC>T,NM_194248.2:c.4152_4154del,NP_919224.1:p.Lys1385del,34/47,\N,Unknown significance,\N,inframe_deletion,14.68,0.0000301332,EXAC_NFE_AF,OTOF
427717,2:26690313:T>C,NM_194248.2:c.4147A>G,NP_919224.1:p.Lys1383Glu,34/47,\N,Likely benign,\N,missense_variant,11,0.0000867453,EXAC_AMR_AF,OTOF
427718,2:26690314:C>A,NM_194248.2:c.4146G>T,NP_919224.1:p.Lys1382Asn,34/47,\N,Unknown significance,\N,missense_variant,24.1,0.0000150898,EXAC_NFE_AF,OTOF
427719,2:26690319:C>T,NM_194248.2:c.4141G>A,NP_919224.1:p.Glu1381Lys,34/47,\N,Likely benign,\N,missense_variant,17.17,0.001,1KG_SAS_AF,OTOF
427720,2:26690321:T>C,NM_194248.2:c.4139A>G,NP_919224.1:p.Glu1380Gly,34/47,\N,Unknown significance,\N,missense_variant,14.26,0.000015114,EXAC_NFE_AF,OTOF
427721,2:26690322:C>T,NM_194248.2:c.4138G>A,NP_919224.1:p.Glu1380Lys,34/47,\N,Likely benign,\N,missense_variant,17.38,0.00122212,EXAC_FIN_AF,OTOF
427722,2:26690327:G>A,NM_194248.2:c.4133C>T,NP_919224.1:p.Ala1378Val,34/47,\N,Likely benign,\N,missense_variant,10.95,0.0000151625,EXAC_NFE_AF,OTOF
427723,2:26690332:C>A,NM_194248.2:c.4128G>T,NP_919224.1:p.Arg1376Ser,34/47,\N,Likely benign,\N,missense_variant,16.82,0.000015211,EXAC_NFE_AF,OTOF
427724,2:26690339:T>G,NM_194248.2:c.4121A>C,NP_919224.1:p.Lys1374Thr,34/47,\N,Likely benign,\N,missense_variant,17.59,0.000122941,EXAC_SAS_AF,OTOF
427725,2:26690349:C>T,NM_194248.2:c.4111G>A,NP_919224.1:p.Gly1371Ser,34/47,\N,Likely benign,\N,missense_variant,18.05,0.000124688,EXAC_SAS_AF,OTOF
427726,2:26690352:T>C,NM_194248.2:c.4108A>G,NP_919224.1:p.Lys1370Glu,34/47,\N,Unknown significance,\N,missense_variant,18.12,0.0008,1KG_AFR_AF,OTOF
427727,2:26690355:T>C,NM_194248.2:c.4105A>G,NP_919224.1:p.Met1369Val,34/47,\N,Likely benign,\N,missense_variant,0.019,0.000226963,EVS_AA_AF,OTOF
427728,2:26690357:G>C,NM_194248.2:c.4103C>G,NP_919224.1:p.Ser1368Ter,34/47,\N,Pathogenic,Hearing loss| non-syndromic,stop_gained,37,\N,\N,OTOF
427729,2:26690358:A>T,NM_194248.2:c.4102T>A,NP_919224.1:p.Ser1368Thr,34/47,\N,Likely benign,\N,missense_variant,0.713,\N,\N,OTOF
427730,2:26690363:T>A,NM_001287489.1:c.4097A>T,NP_001274418.1:p.Lys1366Met,34/46,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,OTOF
427731,2:26690368:G>C,NM_194248.2:c.4092C>G,NP_919224.1:p.Gly1364=,34/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.83,0.0000659674,EXAC_NFE_AF,OTOF
427732,2:26690369:C>A,NM_001287489.1:c.4091G>T,NP_001274418.1:p.Gly1364Val,34/46,\N,Benign,\N,missense_variant&splice_region_variant,23.2,0.00544712,EVS_AA_AF,OTOF
427733,2:26690370:C>T,NM_194248.2:c.4091-1G>A,\N,\N,33/46,Unknown significance,\N,splice_acceptor_variant,26.3,0.000109433,EXAC_AFR_AF,OTOF
427734,2:26690379:A>C,NM_194248.2:c.4091-10T>G,\N,\N,33/46,Unknown significance,\N,intron_variant,14,0.000132521,EXAC_SAS_AF,OTOF
427735,2:26690386:A>G,NM_194248.2:c.4091-17T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,13.34,0.000139743,EXAC_EAS_AF,OTOF
427736,2:26690391:G>A,NM_194248.2:c.4091-22C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,7.003,0.000117343,EXAC_AFR_AF,OTOF
427737,2:26690395:G>C,NM_194248.2:c.4091-26C>G,\N,\N,33/46,Unknown significance,\N,intron_variant,5.343,0.0000699203,EXAC_SAS_AF,OTOF
427738,2:26690404:T>C,NM_194248.2:c.4091-35A>G,\N,\N,33/46,Unknown significance,\N,intron_variant,3.82,0.000116306,EVS_EA_AF,OTOF
427739,2:26690411:A>G,NM_194248.2:c.4091-42T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,7.137,\N,\N,OTOF
427740,2:26690413:C>T,NM_194248.2:c.4091-44G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,9.078,0.000232666,EVS_EA_AF,OTOF
427741,2:26690416:G>T,NM_194248.2:c.4091-47C>A,\N,\N,33/46,Benign,\N,intron_variant,7.15,0.00840224,EXAC_AFR_AF,OTOF
427742,2:26690419:G>A,NM_194248.2:c.4091-50C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,7.603,0.0000212793,EXAC_NFE_AF,OTOF
427743,2:26690421:C>T,NM_194248.2:c.4091-52G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,5.698,0.00037679,EVS_AA_AF,OTOF
427744,2:26690429:C>T,NM_194248.2:c.4091-60G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,0.236,0.0014,1KG_AMR_AF,OTOF
427745,2:26690460:C>A,NM_194248.2:c.4091-91G>T,\N,\N,33/46,Unknown significance,\N,intron_variant,3.541,0.0014,1KG_AMR_AF,OTOF
427746,2:26690520:C>T,NM_194248.2:c.4091-151G>A,\N,\N,33/46,Benign,\N,intron_variant,1.341,0.1377,1KG_AFR_AF,OTOF
427747,2:26690542:C>G,NM_194248.2:c.4091-173G>C,\N,\N,33/46,Unknown significance,\N,intron_variant,4.564,0.0014,1KG_AMR_AF,OTOF
427748,2:26690561:G>A,NM_194248.2:c.4091-192C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,0.807,0.0008,1KG_AFR_AF,OTOF
427749,2:26690561:G>C,NM_194248.2:c.4091-192C>G,\N,\N,33/46,Unknown significance,\N,intron_variant,0.151,\N,\N,OTOF
427750,2:26690602:AG>A,NM_194248.2:c.4091-234del,\N,\N,33/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427751,2:26690604:G>A,NM_194248.2:c.4091-235C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,5.404,\N,\N,OTOF
427752,2:26690610:G>A,NM_194248.2:c.4091-241C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,3.371,\N,\N,OTOF
427753,2:26690637:C>T,NM_194248.2:c.4091-268G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,9.602,0.0014,1KG_AMR_AF,OTOF
427754,2:26690674:C>T,NM_194248.2:c.4091-305G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,0.621,\N,\N,OTOF
427755,2:26690712:T>G,NM_194248.2:c.4091-343A>C,\N,\N,33/46,Unknown significance,\N,intron_variant,3.833,0.001,1KG_EAS_AF,OTOF
427756,2:26690715:A>G,NM_194248.2:c.4091-346T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,2.271,\N,\N,OTOF
427757,2:26690733:T>C,NM_194248.2:c.4091-364A>G,\N,\N,33/46,Unknown significance,\N,intron_variant,2.408,\N,\N,OTOF
427758,2:26690777:G>C,NM_194248.2:c.4091-408C>G,\N,\N,33/46,Unknown significance,\N,intron_variant,4.747,\N,\N,OTOF
427759,2:26690838:G>A,NM_194248.2:c.4090+438C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,4.067,0.001,1KG_SAS_AF,OTOF
427760,2:26690861:A>G,NM_194248.2:c.4090+415T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,1.721,\N,\N,OTOF
427761,2:26690862:G>A,NM_194248.2:c.4090+414C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,1.892,0.001,1KG_EAS_AF,OTOF
427762,2:26690889:A>G,NM_194248.2:c.4090+387T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,1.34,\N,\N,OTOF
427763,2:26690938:A>G,NM_194248.2:c.4090+338T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,2.789,0.001,1KG_SAS_AF,OTOF
427764,2:26690964:A>G,NM_194248.2:c.4090+312T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,3.402,\N,\N,OTOF
427765,2:26691024:T>C,NM_194248.2:c.4090+252A>G,\N,\N,33/46,Benign,\N,intron_variant,9.343,0.9851,1KG_EAS_AF,OTOF
427766,2:26691095:T>TC,NM_194248.2:c.4090+180dup,\N,\N,33/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427767,2:26691108:G>A,NM_194248.2:c.4090+168C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,5.685,\N,\N,OTOF
427768,2:26691113:A>G,NM_194248.2:c.4090+163T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,3.925,\N,\N,OTOF
427769,2:26691131:C>T,NM_194248.2:c.4090+145G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,5.088,\N,\N,OTOF
427770,2:26691182:G>A,NM_194248.2:c.4090+94C>T,\N,\N,33/46,Benign,\N,intron_variant,7.446,0.129,1KG_EAS_AF,OTOF
427771,2:26691206:G>A,NM_194248.2:c.4090+70C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,5.971,0.001,1KG_EUR_AF,OTOF
427772,2:26691228:A>G,NM_194248.2:c.4090+48T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,5.871,0.000060584,EXAC_SAS_AF,OTOF
427773,2:26691229:C>A,NM_194248.2:c.4090+47G>T,\N,\N,33/46,Unknown significance,\N,intron_variant,3.197,0.0000149979,EXAC_NFE_AF,OTOF
427774,2:26691231:C>A,NM_194248.2:c.4090+45G>T,\N,\N,33/46,Unknown significance,\N,intron_variant,3.027,0.00300509,EXAC_EAS_AF,OTOF
427775,2:26691234:G>A,NM_194248.2:c.4090+42C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,4.697,0.0000150024,EXAC_NFE_AF,OTOF
427776,2:26691235:G>A,NM_194248.2:c.4090+41C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,4.091,0.001,1KG_EAS_AF,OTOF
427777,2:26691237:C>T,NM_194248.2:c.4090+39G>A,\N,\N,33/46,Unknown significance,\N,intron_variant,1.35,\N,\N,OTOF
427778,2:26691238:G>A,NM_194248.2:c.4090+38C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,0.462,0.000151286,EXAC_FIN_AF,OTOF
427779,2:26691239:G>A,NM_194248.2:c.4090+37C>T,\N,\N,33/46,Unknown significance,\N,intron_variant,4.885,0.000192345,EXAC_AFR_AF,OTOF
427780,2:26691240:G>C,NM_194248.2:c.4090+36C>G,\N,\N,33/46,Unknown significance,\N,intron_variant,1.836,0.000116279,EVS_EA_AF,OTOF
427781,2:26691245:A>G,NM_194248.2:c.4090+31T>C,\N,\N,33/46,Unknown significance,\N,intron_variant,4.152,0.000014993,EXAC_NFE_AF,OTOF
427782,2:26691256:T>G,NM_194248.2:c.4090+20A>C,\N,\N,33/46,Benign,\N,intron_variant,2.072,0.02,OTO_TR_AF,OTOF
427783,2:26691263:T>G,NM_194248.2:c.4090+13A>C,\N,\N,33/46,Benign,\N,intron_variant,9.497,0.01,OTO_TR_AF,OTOF
427784,2:26691274:A>C,NM_194248.2:c.4090+2T>G,\N,\N,33/46,Unknown significance,\N,splice_donor_variant,23.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427785,2:26691275:C>T,NM_194248.2:c.4090+1G>A,\N,\N,33/46,Unknown significance,\N,splice_donor_variant,24.4,0.000060562,EXAC_SAS_AF,OTOF
427786,2:26691279:C>T,NM_194248.2:c.4087G>A,NP_919224.1:p.Glu1363Lys,33/47,\N,Unknown significance,\N,missense_variant,17.05,0.00110375,EXAC_OTH_AF,OTOF
427787,2:26691297:C>G,NM_194248.2:c.4069G>C,NP_919224.1:p.Glu1357Gln,33/47,\N,Likely benign,\N,missense_variant,23.4,0.000115554,EXAC_EAS_AF,OTOF
427788,2:26691297:C>T,NM_194248.2:c.4069G>A,NP_919224.1:p.Glu1357Lys,33/47,\N,Likely benign,\N,missense_variant,22.5,0.0000449519,EXAC_NFE_AF,OTOF
427789,2:26691303:C>T,NM_194248.2:c.4063G>A,NP_919224.1:p.Glu1355Lys,33/47,\N,Likely benign,\N,missense_variant,22.1,0.002,1KG_EAS_AF,OTOF
427790,2:26691307:C>T,NM_194248.2:c.4059G>A,NP_919224.1:p.Leu1353=,33/47,\N,Unknown significance,\N,synonymous_variant,14.04,0.000014984,EXAC_NFE_AF,OTOF
427791,2:26691314:A>G,NM_194248.2:c.4052T>C,NP_919224.1:p.Ile1351Thr,33/47,\N,Likely benign,\N,missense_variant,6.401,0.000226963,EVS_AA_AF,OTOF
427792,2:26691320:G>A,NM_194248.2:c.4046C>T,NP_919224.1:p.Ser1349Phe,33/47,\N,Unknown significance,\N,missense_variant,22.9,0.000232558,EVS_EA_AF,OTOF
427793,2:26691327:CTTG>C,NM_194248.2:c.4036_4038del,NP_919224.1:p.Gln1346del,33/47,\N,Unknown significance,\N,inframe_deletion,22.9,0.00110132,EXAC_OTH_AF,OTOF
427794,2:26691330:G>C,NM_194248.2:c.4036C>G,NP_919224.1:p.Gln1346Glu,33/47,\N,Unknown significance,\N,missense_variant,22.5,0.000104888,EXAC_NFE_AF,OTOF
427795,2:26691331:T>A,NM_194248.2:c.4035A>T,NP_919224.1:p.Gln1345His,33/47,\N,Likely benign,\N,missense_variant,16.38,0.000014984,EXAC_NFE_AF,OTOF
427796,2:26691335:C>T,NM_194248.2:c.4031G>A,NP_919224.1:p.Arg1344Gln,33/47,\N,Likely benign,\N,missense_variant,22.9,0.000302389,EXAC_FIN_AF,OTOF
427797,2:26691336:GA>G,NM_194248.2:c.4029del,NP_919224.1:p.Arg1344AspfsTer22,33/47,\N,Unknown significance,\N,frameshift_variant,33,0.000014984,EXAC_NFE_AF,OTOF
427798,2:26691336:G>A,NM_194248.2:c.4030C>T,NP_919224.1:p.Arg1344Ter,33/47,\N,Pathogenic,Hearing loss| non-syndromic,stop_gained,46,\N,\N,OTOF
427799,2:26691349:A>G,NM_194248.2:c.4024-7T>C,\N,\N,32/46,Unknown significance,\N,splice_region_variant&intron_variant,10.11,0.0000149844,EXAC_NFE_AF,OTOF
427800,2:26691368:C>A,NM_194248.2:c.4024-26G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,2.94,0.000226963,EVS_AA_AF,OTOF
427801,2:26691368:C>T,NM_194248.2:c.4024-26G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,2.866,0.0000863707,EXAC_AMR_AF,OTOF
427802,2:26691370:G>A,NM_194248.2:c.4024-28C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,5.727,0.000231107,EXAC_EAS_AF,OTOF
427803,2:26691379:T>G,NM_194248.2:c.4024-37A>C,\N,\N,32/46,Unknown significance,\N,intron_variant,9.067,0.00166314,EXAC_FIN_AF,OTOF
427804,2:26691380:T>A,NM_194248.2:c.4024-38A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,10.92,0.000060562,EXAC_SAS_AF,OTOF
427805,2:26691390:G>A,NM_194248.2:c.4024-48C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,10.6,0.0000899604,EXAC_NFE_AF,OTOF
427806,2:26691390:G>T,NM_194248.2:c.4024-48C>A,\N,\N,32/46,Unknown significance,\N,intron_variant,9.362,0.000259202,EXAC_AMR_AF,OTOF
427807,2:26691393:G>A,NM_194248.2:c.4024-51C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.003,0.000121124,EXAC_SAS_AF,OTOF
427808,2:26691434:C>A,NM_194248.2:c.4024-92G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,11.07,0.001,1KG_EAS_AF,OTOF
427809,2:26691434:C>T,NM_194248.2:c.4024-92G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,10.91,\N,\N,OTOF
427810,2:26691469:A>G,NM_194248.2:c.4024-127T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,3.166,0.0008,1KG_AFR_AF,OTOF
427811,2:26691475:C>T,NM_194248.2:c.4024-133G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,3.677,0.0015,1KG_AFR_AF,OTOF
427812,2:26691493:T>C,NM_194248.2:c.4024-151A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,2.884,\N,\N,OTOF
427813,2:26691500:A>G,NM_194248.2:c.4024-158T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,3.541,\N,\N,OTOF
427814,2:26691526:G>A,NM_194248.2:c.4024-184C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,4.154,0.001,1KG_EUR_AF,OTOF
427815,2:26691552:A>T,NM_194248.2:c.4024-210T>A,\N,\N,32/46,Unknown significance,\N,intron_variant,1.916,0.0015,1KG_AFR_AF,OTOF
427816,2:26691557:T>C,NM_194248.2:c.4024-215A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,2.217,0.002,1KG_EAS_AF,OTOF
427817,2:26691558:G>A,NM_194248.2:c.4024-216C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,0.754,0.0043,1KG_AMR_AF,OTOF
427818,2:26691622:G>A,NM_194248.2:c.4024-280C>T,\N,\N,32/46,Benign,\N,intron_variant,5.721,0.0053,1KG_AFR_AF,OTOF
427819,2:26691660:T>C,NM_194248.2:c.4024-318A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,2.285,0.001,1KG_EUR_AF,OTOF
427820,2:26691733:ACACAGGGAGGGGAACAT>A,NM_194248.2:c.4024-408_4024-392del,\N,\N,32/46,Benign,\N,intron_variant,11.59,0.0119,1KG_EUR_AF,OTOF
427821,2:26691759:G>A,NM_194248.2:c.4024-417C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,0.033,0.0015,1KG_AFR_AF,OTOF
427822,2:26691765:T>TGTG,NM_194248.2:c.4024-426_4024-424dup,\N,\N,32/46,Unknown significance,\N,intron_variant,0.492,0.003,1KG_EUR_AF,OTOF
427823,2:26691913:G>T,NM_194248.2:c.4024-571C>A,\N,\N,32/46,Unknown significance,\N,intron_variant,0.471,\N,\N,OTOF
427824,2:26691916:T>G,NM_194248.2:c.4024-574A>C,\N,\N,32/46,Unknown significance,\N,intron_variant,2.306,\N,\N,OTOF
427825,2:26691921:T>A,NM_194248.2:c.4024-579A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,2.034,0.0014,1KG_AMR_AF,OTOF
427826,2:26691922:A>T,NM_194248.2:c.4024-580T>A,\N,\N,32/46,Unknown significance,\N,intron_variant,0.803,0.0014,1KG_AMR_AF,OTOF
427827,2:26691930:A>G,NM_194248.2:c.4024-588T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,0.238,\N,\N,OTOF
427828,2:26691932:GAAAT>G,NM_194248.2:c.4024-594_4024-591del,\N,\N,32/46,Benign,\N,intron_variant,0.986,0.0439,1KG_AFR_AF,OTOF
427829,2:26691952:A>G,NM_194248.2:c.4024-610T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,0.832,\N,\N,OTOF
427830,2:26691964:T>C,NM_194248.2:c.4024-622A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,0.427,0.0015,1KG_AFR_AF,OTOF
427831,2:26691971:A>T,NM_194248.2:c.4024-629T>A,\N,\N,32/46,Benign,\N,intron_variant,0.003,0.0153,1KG_SAS_AF,OTOF
427832,2:26691974:A>G,NM_194248.2:c.4024-632T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,0.142,0.001,1KG_SAS_AF,OTOF
427833,2:26692057:C>A,NM_194248.2:c.4024-715G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.895,0.0008,1KG_AFR_AF,OTOF
427834,2:26692074:C>T,NM_194248.2:c.4024-732G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,4.673,\N,\N,OTOF
427835,2:26692090:A>G,NM_194248.2:c.4024-748T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,3.75,\N,\N,OTOF
427836,2:26692095:A>T,NM_194248.2:c.4024-753T>A,\N,\N,32/46,Unknown significance,\N,intron_variant,1.814,\N,\N,OTOF
427837,2:26692137:A>C,NM_194248.2:c.4024-795T>G,\N,\N,32/46,Unknown significance,\N,intron_variant,3.756,0.0031,1KG_SAS_AF,OTOF
427838,2:26692137:A>G,NM_194248.2:c.4024-795T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,6.387,\N,\N,OTOF
427839,2:26692151:G>A,NM_194248.2:c.4024-809C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,9.375,\N,\N,OTOF
427840,2:26692157:T>A,NM_194248.2:c.4024-815A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,14.44,\N,\N,OTOF
427841,2:26692176:T>C,NM_194248.2:c.4024-834A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,10.5,0.001,1KG_SAS_AF,OTOF
427842,2:26692192:G>A,NM_194248.2:c.4024-850C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,5.877,0.0015,1KG_AFR_AF,OTOF
427843,2:26692211:C>G,NM_194248.2:c.4024-869G>C,\N,\N,32/46,Unknown significance,\N,intron_variant,1.195,0.001,1KG_SAS_AF,OTOF
427844,2:26692236:G>A,NM_194248.2:c.4024-894C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,12.77,0.001,1KG_EAS_AF,OTOF
427845,2:26692237:T>A,NM_194248.2:c.4024-895A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,12.78,0.001,1KG_EAS_AF,OTOF
427846,2:26692244:C>T,NM_194248.2:c.4024-902G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,6.225,\N,\N,OTOF
427847,2:26692264:A>T,NM_194248.2:c.4024-922T>A,\N,\N,32/46,Unknown significance,\N,intron_variant,2.301,\N,\N,OTOF
427848,2:26692305:C>T,NM_194248.2:c.4024-963G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,6.767,\N,\N,OTOF
427849,2:26692316:T>C,NM_194248.2:c.4024-974A>G,\N,\N,32/46,Benign,\N,intron_variant,1.262,0.9861,1KG_EAS_AF,OTOF
427850,2:26692324:T>C,NM_194248.2:c.4024-982A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,0.448,0.001,1KG_EUR_AF,OTOF
427851,2:26692337:C>A,NM_194248.2:c.4024-995G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.609,\N,\N,OTOF
427852,2:26692468:C>T,NM_194248.2:c.4023+993G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,5.097,\N,\N,OTOF
427853,2:26692483:A>T,NM_194248.2:c.4023+978T>A,\N,\N,32/46,Benign,\N,intron_variant,0.51,0.0119,1KG_EAS_AF,OTOF
427854,2:26692484:T>C,NM_194248.2:c.4023+977A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,1.891,\N,\N,OTOF
427855,2:26692493:G>A,NM_194248.2:c.4023+968C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,5.697,\N,\N,OTOF
427856,2:26692497:C>A,NM_194248.2:c.4023+964G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,1.339,0.001,1KG_SAS_AF,OTOF
427857,2:26692509:C>T,NM_194248.2:c.4023+952G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,3.746,0.001,1KG_SAS_AF,OTOF
427858,2:26692518:C>T,NM_194248.2:c.4023+943G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,2.914,0.0041,1KG_SAS_AF,OTOF
427859,2:26692545:T>C,NM_194248.2:c.4023+916A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,8.511,0.0014,1KG_AMR_AF,OTOF
427860,2:26692555:G>A,NM_194248.2:c.4023+906C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,11.21,\N,\N,OTOF
427861,2:26692562:C>A,NM_194248.2:c.4023+899G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,11.14,\N,\N,OTOF
427862,2:26692581:C>A,NM_194248.2:c.4023+880G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,4.657,\N,\N,OTOF
427863,2:26692699:C>G,NM_194248.2:c.4023+762G>C,\N,\N,32/46,Unknown significance,\N,intron_variant,3.454,0.0008,1KG_AFR_AF,OTOF
427864,2:26692741:G>A,NM_194248.2:c.4023+720C>T,\N,\N,32/46,Benign,\N,intron_variant,8.379,0.0257,1KG_AFR_AF,OTOF
427865,2:26692753:C>T,NM_194248.2:c.4023+708G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,4.724,\N,\N,OTOF
427866,2:26692784:G>A,NM_194248.2:c.4023+677C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,7.6,0.0008,1KG_AFR_AF,OTOF
427867,2:26692790:G>A,NM_194248.2:c.4023+671C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,7.239,\N,\N,OTOF
427868,2:26692795:C>G,NM_194248.2:c.4023+666G>C,\N,\N,32/46,Unknown significance,\N,intron_variant,8.617,\N,\N,OTOF
427869,2:26692813:G>A,NM_194248.2:c.4023+648C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,0.748,0.0008,1KG_AFR_AF,OTOF
427870,2:26692818:G>A,NM_194248.2:c.4023+643C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,4.129,0.002,1KG_SAS_AF,OTOF
427871,2:26692845:T>A,NM_194248.2:c.4023+616A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,5.794,0.001,1KG_EAS_AF,OTOF
427872,2:26692847:C>T,NM_194248.2:c.4023+614G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,1.404,\N,\N,OTOF
427873,2:26692848:G>A,NM_194248.2:c.4023+613C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,0.59,0.0043,1KG_AMR_AF,OTOF
427874,2:26692868:TG>T,NM_194248.2:c.4023+592del,\N,\N,32/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
427875,2:26692880:T>A,NM_194248.2:c.4023+581A>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.25,0.002,1KG_EAS_AF,OTOF
427876,2:26692919:G>A,NM_194248.2:c.4023+542C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,4.763,\N,\N,OTOF
427877,2:26692922:C>T,NM_194248.2:c.4023+539G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,1.522,\N,\N,OTOF
427878,2:26692923:C>T,NM_194248.2:c.4023+538G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,2.456,\N,\N,OTOF
427879,2:26692951:T>G,NM_194248.2:c.4023+510A>C,\N,\N,32/46,Benign,\N,intron_variant,2.271,0.9841,1KG_EAS_AF,OTOF
427880,2:26692968:A>G,NM_194248.2:c.4023+493T>C,\N,\N,32/46,Benign,\N,intron_variant,2.326,0.1349,1KG_EAS_AF,OTOF
427881,2:26693006:G>A,NM_194248.2:c.4023+455C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,9.755,0.003,1KG_EUR_AF,OTOF
427882,2:26693050:C>T,NM_194248.2:c.4023+411G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,4.869,0.001,1KG_EAS_AF,OTOF
427883,2:26693051:G>A,NM_194248.2:c.4023+410C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.812,\N,\N,OTOF
427884,2:26693090:A>C,NM_194248.2:c.4023+371T>G,\N,\N,32/46,Unknown significance,\N,intron_variant,4.851,\N,\N,OTOF
427885,2:26693120:C>T,NM_194248.2:c.4023+341G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,6.09,\N,\N,OTOF
427886,2:26693124:T>C,NM_194248.2:c.4023+337A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,2.377,\N,\N,OTOF
427887,2:26693127:A>G,NM_194248.2:c.4023+334T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,2.167,0.001,1KG_EAS_AF,OTOF
427888,2:26693133:C>T,NM_194248.2:c.4023+328G>A,\N,\N,32/46,Benign,\N,intron_variant,3.919,0.007,1KG_EUR_AF,OTOF
427889,2:26693144:G>A,NM_194248.2:c.4023+317C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,2.957,0.002,1KG_SAS_AF,OTOF
427890,2:26693156:G>A,NM_194248.2:c.4023+305C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,5.632,\N,\N,OTOF
427891,2:26693183:A>G,NM_194248.2:c.4023+278T>C,\N,\N,32/46,Benign,\N,intron_variant,1.716,0.0115,1KG_AMR_AF,OTOF
427892,2:26693211:C>T,NM_194248.2:c.4023+250G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,3.519,0.0014,1KG_AMR_AF,OTOF
427893,2:26693215:T>C,NM_194248.2:c.4023+246A>G,\N,\N,32/46,Benign,\N,intron_variant,3.034,0.4761,1KG_EUR_AF,OTOF
427894,2:26693227:G>A,NM_194248.2:c.4023+234C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,1.99,\N,\N,OTOF
427895,2:26693257:A>G,NM_194248.2:c.4023+204T>C,\N,\N,32/46,Unknown significance,\N,intron_variant,4.244,0.001,1KG_EUR_AF,OTOF
427896,2:26693306:T>C,NM_194248.2:c.4023+155A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,10.11,\N,\N,OTOF
427897,2:26693309:T>C,NM_194248.2:c.4023+152A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,10.14,0.0041,1KG_SAS_AF,OTOF
427898,2:26693333:G>T,NM_194248.2:c.4023+128C>A,\N,\N,32/46,Unknown significance,\N,intron_variant,8.467,\N,\N,OTOF
427899,2:26693380:T>C,NM_194248.2:c.4023+81A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,1.023,0.0031,1KG_SAS_AF,OTOF
427900,2:26693387:C>T,NM_194248.2:c.4023+74G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,0.05,0.001,1KG_EAS_AF,OTOF
427901,2:26693388:G>A,NM_194248.2:c.4023+73C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,0.255,\N,\N,OTOF
427902,2:26693412:G>A,NM_194248.2:c.4023+49C>T,\N,\N,32/46,Unknown significance,\N,intron_variant,6.639,0.000014993,EXAC_NFE_AF,OTOF
427903,2:26693417:A>C,NM_194248.2:c.4023+44T>G,\N,\N,32/46,Unknown significance,\N,intron_variant,1.901,0.0000149916,EXAC_NFE_AF,OTOF
427904,2:26693421:T>C,NM_194248.2:c.4023+40A>G,\N,\N,32/46,Unknown significance,\N,intron_variant,5.887,\N,\N,OTOF
427905,2:26693424:A>T,NM_194248.2:c.4023+37T>A,\N,\N,32/46,Unknown significance,\N,intron_variant,1.722,\N,\N,OTOF
427906,2:26693424:AG>A,NM_194248.2:c.4023+36del,\N,\N,32/46,Unknown significance,\N,intron_variant,2.373,0.0000149921,EXAC_NFE_AF,OTOF
427907,2:26693428:G>C,NM_194248.2:c.4023+33C>G,\N,\N,32/46,Unknown significance,\N,intron_variant,1.8,0.00110132,EXAC_OTH_AF,OTOF
427908,2:26693431:C>A,NM_194248.2:c.4023+30G>T,\N,\N,32/46,Unknown significance,\N,intron_variant,3.537,0.000060562,EXAC_SAS_AF,OTOF
427909,2:26693433:C>G,NM_194248.2:c.4023+28G>C,\N,\N,32/46,Unknown significance,\N,intron_variant,3.78,0.000226963,EVS_AA_AF,OTOF
427910,2:26693437:C>T,NM_194248.2:c.4023+24G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,5.165,\N,\N,OTOF
427911,2:26693439:C>T,NM_194248.2:c.4023+22G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,4.997,0.0000962279,EXAC_AFR_AF,OTOF
427912,2:26693445:C>G,NM_194248.2:c.4023+16G>C,\N,\N,32/46,Unknown significance,\N,intron_variant,6.763,0.0000149912,EXAC_NFE_AF,OTOF
427913,2:26693450:C>T,NM_194248.2:c.4023+11G>A,\N,\N,32/46,Unknown significance,\N,intron_variant,0.205,0.000115607,EXAC_EAS_AF,OTOF
427914,2:26693454:G>A,NM_194248.2:c.4023+7C>T,\N,\N,32/46,Likely benign,\N,splice_region_variant&intron_variant,10.16,0.000116279,EVS_EA_AF,OTOF
427915,2:26693455:T>G,NM_194248.2:c.4023+6A>C,\N,\N,32/46,Unknown significance,\N,splice_region_variant&intron_variant,8.023,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427916,2:26693458:C>T,NM_194248.2:c.4023+3G>A,\N,\N,32/46,Unknown significance,\N,splice_region_variant&intron_variant,16.35,0.000226963,EVS_AA_AF,OTOF
427917,2:26693460:C>T,NM_194248.2:c.4023+1G>A,\N,\N,32/46,Benign*,\N,splice_donor_variant,26.3,0.0125,OTO_JP_AF,OTOF
427918,2:26693465:T>G,NM_194248.2:c.4019A>C,NP_919224.1:p.Lys1340Thr,32/47,\N,Unknown significance,\N,missense_variant,19.47,0.0000149876,EXAC_NFE_AF,OTOF
427919,2:26693478:T>C,NM_194248.2:c.4006A>G,NP_919224.1:p.Ile1336Val,32/47,\N,Likely benign,\N,missense_variant,11.42,0.000242248,EXAC_SAS_AF,OTOF
427920,2:26693500:C>G,NM_194248.2:c.3984G>C,NP_919224.1:p.Trp1328Cys,32/47,\N,Unknown significance,\N,missense_variant,34,0.0000149948,EXAC_NFE_AF,OTOF
427921,2:26693503:G>A,NM_194248.2:c.3981C>T,NP_919224.1:p.Asp1327=,32/47,\N,Unknown significance,\N,synonymous_variant,6.487,0.000226963,EVS_AA_AF,OTOF
427922,2:26693505:C>G,NM_194248.2:c.3979G>C,NP_919224.1:p.Asp1327His,32/47,\N,Unknown significance,\N,missense_variant,32,0.0000864454,EXAC_AMR_AF,OTOF
427923,2:26693511:T>A,NM_194248.2:c.3973A>T,NP_919224.1:p.Met1325Leu,32/47,\N,Unknown significance,\N,missense_variant,16.38,0.000226963,EVS_AA_AF,OTOF
427924,2:26693515:C>G,NM_194248.2:c.3969G>C,NP_919224.1:p.Glu1323Asp,32/47,\N,Unknown significance,\N,missense_variant,18.97,0.0000964878,EXAC_AFR_AF,OTOF
427925,2:26693517:C>T,NM_194248.2:c.3967G>A,NP_919224.1:p.Glu1323Lys,32/47,\N,Unknown significance,\N,missense_variant,28,0.00011566,EXAC_EAS_AF,OTOF
427926,2:26693518:G>C,NM_194248.2:c.3966C>G,NP_919224.1:p.Asp1322Glu,32/47,\N,Benign,\N,missense_variant,12.97,0.00625,OTO_US_AF,OTOF
427927,2:26693523:G>A,NM_194248.2:c.3961C>T,NP_919224.1:p.Pro1321Ser,32/47,\N,Unknown significance,\N,missense_variant,8.362,0.0000606355,EXAC_SAS_AF,OTOF
427928,2:26693542:C>T,NM_194248.2:c.3942G>A,NP_919224.1:p.Glu1314=,32/47,\N,Unknown significance,\N,synonymous_variant,10.92,0.0000150403,EXAC_NFE_AF,OTOF
427929,2:26693545:C>T,NM_194248.2:c.3939G>A,NP_919224.1:p.Ala1313=,32/47,\N,Likely benign,\N,synonymous_variant,11.88,0.000974279,EXAC_AFR_AF,OTOF
427930,2:26693546:G>A,NM_194248.2:c.3938C>T,NP_919224.1:p.Ala1313Val,32/47,\N,Likely benign,\N,missense_variant,11.95,0.000226963,EVS_AA_AF,OTOF
427931,2:26693547:C>T,NM_194248.2:c.3937G>A,NP_919224.1:p.Ala1313Thr,32/47,\N,Likely benign,\N,missense_variant,3.32,0.0000150507,EXAC_NFE_AF,OTOF
427932,2:26693549:G>A,NM_194248.2:c.3935C>T,NP_919224.1:p.Thr1312Ile,32/47,\N,Likely benign,\N,missense_variant,6.892,0.0000866701,EXAC_AMR_AF,OTOF
427933,2:26693551:G>A,NM_194248.2:c.3933C>T,NP_919224.1:p.Gly1311=,32/47,\N,Unknown significance,\N,synonymous_variant,8.894,0.000116279,EVS_EA_AF,OTOF
427934,2:26693552:C>T,NM_194248.2:c.3932G>A,NP_919224.1:p.Gly1311Asp,32/47,\N,Likely benign,\N,missense_variant,23.5,0.0000150657,EXAC_NFE_AF,OTOF
427935,2:26693553:C>CCTT,NM_194248.2:c.3928_3930dup,NP_919224.1:p.Lys1310dup,32/47,\N,Pathogenic,Deafness| autosomal recessive 9,inframe_insertion,17.12,0.000696702,EXAC_EAS_AF,OTOF
427936,2:26693553:C>CCTTCTT,NM_194248.2:c.3925_3930dup,NP_919224.1:p.Lys1309_Lys1310dup,32/47,\N,Unknown significance,\N,inframe_insertion,16.81,0.000687488,EXAC_AFR_AF,OTOF
427937,2:26693553:CCTT>C,NM_194248.2:c.3928_3930del,NP_919224.1:p.Lys1310del,32/47,\N,Unknown significance,\N,inframe_deletion,19.95,0.000982125,EXAC_AFR_AF,OTOF
427938,2:26693553:CCTTCTT>C,NM_194248.2:c.3925_3930del,NP_919224.1:p.Lys1309_Lys1310del,32/47,\N,Unknown significance,\N,inframe_deletion,21.4,0.0000609236,EXAC_SAS_AF,OTOF
427939,2:26693560:C>G,NM_194248.2:c.3924G>C,NP_919224.1:p.Lys1308Asn,32/47,\N,Unknown significance,\N,missense_variant,22.1,0.000030217,EXAC_NFE_AF,OTOF
427940,2:26693560:C>T,NM_194248.2:c.3924G>A,NP_919224.1:p.Lys1308=,32/47,\N,Unknown significance,\N,synonymous_variant,15.68,0.0000151085,EXAC_NFE_AF,OTOF
427941,2:26693566:C>G,NM_194248.2:c.3918G>C,NP_919224.1:p.Lys1306Asn,32/47,\N,Benign,\N,missense_variant,23.1,0.01,OTO_TR_AF,OTOF
427942,2:26693567:T>G,NM_194248.2:c.3917A>C,NP_919224.1:p.Lys1306Thr,32/47,\N,Unknown significance,\N,missense_variant,20.5,0.00317749,EVS_AA_AF,OTOF
427943,2:26693570:T>C,NM_194248.2:c.3914A>G,NP_919224.1:p.Lys1305Arg,32/47,\N,Likely benign,\N,missense_variant,13.56,0.0000151768,EXAC_NFE_AF,OTOF
427944,2:26693582:T>C,NM_194248.2:c.3902A>G,NP_919224.1:p.Glu1301Gly,32/47,\N,Unknown significance,\N,missense_variant,22.4,0.0000153417,EXAC_NFE_AF,OTOF
427945,2:26693592:G>A,NM_194248.2:c.3895-3C>T,\N,\N,31/46,Unknown significance,\N,splice_region_variant&intron_variant,8.36,0.000155812,EXAC_FIN_AF,OTOF
427946,2:26693595:G>A,NM_194248.2:c.3895-6C>T,\N,\N,31/46,Unknown significance,\N,splice_region_variant&intron_variant,8.074,0.0000158443,EXAC_NFE_AF,OTOF
427947,2:26693603:A>C,NM_194248.2:c.3895-14T>G,\N,\N,31/46,Unknown significance,\N,intron_variant,7.222,0.0000321906,EXAC_NFE_AF,OTOF
427948,2:26693620:T>G,NM_194248.2:c.3895-31A>C,\N,\N,31/46,Unknown significance,\N,intron_variant,10.25,0.000063678,EXAC_SAS_AF,OTOF
427949,2:26693625:T>C,NM_194248.2:c.3895-36A>G,\N,\N,31/46,Unknown significance,\N,intron_variant,2.211,0.000101667,EXAC_AMR_AF,OTOF
427950,2:26693628:T>C,NM_194248.2:c.3895-39A>G,\N,\N,31/46,Unknown significance,\N,intron_variant,3.252,\N,\N,OTOF
427951,2:26693646:G>A,NM_194248.2:c.3895-57C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,1.101,\N,\N,OTOF
427952,2:26693658:C>G,NM_194248.2:c.3895-69G>C,\N,\N,31/46,Unknown significance,\N,intron_variant,4.028,0.0008,1KG_AFR_AF,OTOF
427953,2:26693665:G>A,NM_194248.2:c.3895-76C>T,\N,\N,31/46,Benign,\N,intron_variant,4.287,0.0356,1KG_AFR_AF,OTOF
427954,2:26693684:C>T,NM_194248.2:c.3895-95G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,5.544,0.0008,1KG_AFR_AF,OTOF
427955,2:26693699:G>A,NM_194248.2:c.3895-110C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,4.968,0.001,1KG_SAS_AF,OTOF
427956,2:26693717:A>C,NM_194248.2:c.3895-128T>G,\N,\N,31/46,Unknown significance,\N,intron_variant,2.666,0.001,1KG_EAS_AF,OTOF
427957,2:26693788:C>A,NM_194248.2:c.3895-199G>T,\N,\N,31/46,Benign,\N,intron_variant,4.901,0.0079,1KG_EAS_AF,OTOF
427958,2:26693789:G>A,NM_194248.2:c.3894+200C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,5.722,\N,\N,OTOF
427959,2:26693791:T>A,NM_194248.2:c.3894+198A>T,\N,\N,31/46,Unknown significance,\N,intron_variant,5.49,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
427960,2:26693860:G>A,NM_194248.2:c.3894+129C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,5.605,0.0008,1KG_AFR_AF,OTOF
427961,2:26693877:G>A,NM_194248.2:c.3894+112C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,2.175,\N,\N,OTOF
427962,2:26693882:C>A,NM_194248.2:c.3894+107G>T,\N,\N,31/46,Unknown significance,\N,intron_variant,3.9,\N,\N,OTOF
427963,2:26693882:C>T,NM_194248.2:c.3894+107G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,4.086,0.0023,1KG_AFR_AF,OTOF
427964,2:26693887:G>A,NM_194248.2:c.3894+102C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,2.562,\N,\N,OTOF
427965,2:26693920:T>G,NM_194248.2:c.3894+69A>C,\N,\N,31/46,Benign,\N,intron_variant,4.957,0.0076,1KG_AFR_AF,OTOF
427966,2:26693946:G>A,NM_194248.2:c.3894+43C>T,\N,\N,31/46,Unknown significance,\N,intron_variant,6.439,0.000115554,EXAC_EAS_AF,OTOF
427967,2:26693946:G>C,NM_194248.2:c.3894+43C>G,\N,\N,31/46,Unknown significance,\N,intron_variant,2.09,0.000116279,EVS_EA_AF,OTOF
427968,2:26693948:A>C,NM_194248.2:c.3894+41T>G,\N,\N,31/46,Unknown significance,\N,intron_variant,1.643,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427969,2:26693950:C>T,NM_194248.2:c.3894+39G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,6.277,0.0000961169,EXAC_AFR_AF,OTOF
427970,2:26693951:C>T,NM_194248.2:c.3894+38G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,5.281,0.0000149871,EXAC_NFE_AF,OTOF
427971,2:26693953:C>G,NM_194248.2:c.3894+36G>C,\N,\N,31/46,Unknown significance,\N,intron_variant,3.965,0.000226963,EVS_AA_AF,OTOF
427972,2:26693955:C>CA,NM_194248.2:c.3894+33dup,\N,\N,31/46,Unknown significance,\N,intron_variant,3.69,0.0000149867,EXAC_NFE_AF,OTOF
427973,2:26693956:A>C,NM_194248.2:c.3894+33T>G,\N,\N,31/46,Unknown significance,\N,intron_variant,1.626,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427974,2:26693959:C>A,NM_194248.2:c.3894+30G>T,\N,\N,31/46,Unknown significance,\N,intron_variant,9.662,0.000060562,EXAC_SAS_AF,OTOF
427975,2:26693959:C>T,NM_194248.2:c.3894+30G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,9.774,0.0000149871,EXAC_NFE_AF,OTOF
427976,2:26693961:A>G,NM_194248.2:c.3894+28T>C,\N,\N,31/46,Unknown significance,\N,intron_variant,5.693,0.0000149867,EXAC_NFE_AF,OTOF
427977,2:26693967:C>T,NM_194248.2:c.3894+22G>A,\N,\N,31/46,Benign,\N,intron_variant,10.98,1,OTO_JP_AF,OTOF
427978,2:26693968:C>T,NM_194248.2:c.3894+21G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,11.34,0.000924428,EXAC_EAS_AF,OTOF
427979,2:26693973:T>C,NM_194248.2:c.3894+16A>G,\N,\N,31/46,Unknown significance,\N,intron_variant,11.03,0.003,1KG_EUR_AF,OTOF
427980,2:26693977:C>T,NM_194248.2:c.3894+12G>A,\N,\N,31/46,Unknown significance,\N,intron_variant,13.02,0.0025,OTO_JP_AF,OTOF
427981,2:26693979:C>G,NM_194248.2:c.3894+10G>C,\N,\N,31/46,Unknown significance,\N,intron_variant,12.08,0.000060562,EXAC_SAS_AF,OTOF
427982,2:26693985:TC>T,NM_194248.2:c.3894+3del,\N,\N,31/46,Unknown significance,\N,splice_region_variant&intron_variant,14.26,\N,\N,OTOF
427983,2:26693989:C>A,NM_194248.2:c.3894G>T,NP_919224.1:p.Val1298=,31/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,20.9,0.0000299751,EXAC_NFE_AF,OTOF
427984,2:26693990:A>G,NM_194248.2:c.3893T>C,NP_919224.1:p.Val1298Ala,31/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,20.3,0.000242248,EXAC_SAS_AF,OTOF
427985,2:26693991:C>T,NM_194248.2:c.3892G>A,NP_919224.1:p.Val1298Met,31/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,23,0.000116279,EVS_EA_AF,OTOF
427986,2:26693995:C>T,NM_194248.2:c.3888G>A,NP_919224.1:p.Val1296=,31/47,\N,Unknown significance,\N,synonymous_variant,15.66,0.0000449627,EXAC_NFE_AF,OTOF
427987,2:26693996:A>C,NM_001287489.1:c.3887T>G,NP_001274418.1:p.Val1296Gly,31/46,\N,Unknown significance,\N,missense_variant,24.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
427988,2:26694010:T>C,NM_194248.2:c.3873A>G,NP_919224.1:p.Glu1291=,31/47,\N,Unknown significance,\N,synonymous_variant,4.505,0.0000149898,EXAC_NFE_AF,OTOF
427989,2:26694013:A>G,NM_194248.2:c.3870T>C,NP_919224.1:p.Ser1290=,31/47,\N,Unknown significance,\N,synonymous_variant,9.411,0.000259202,EXAC_AMR_AF,OTOF
427990,2:26694013:A>T,NM_194248.2:c.3870T>A,NP_919224.1:p.Ser1290=,31/47,\N,Unknown significance,\N,synonymous_variant,3.365,0.0000864006,EXAC_AMR_AF,OTOF
427991,2:26694017:G>A,NM_194248.2:c.3866C>T,NP_919224.1:p.Thr1289Ile,31/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,15.47,\N,\N,OTOF
427992,2:26694023:A>G,NM_194248.2:c.3865-5T>C,\N,\N,30/46,Unknown significance,\N,splice_region_variant&intron_variant,12.54,\N,\N,OTOF
427993,2:26694030:C>T,NM_194248.2:c.3865-12G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,9.987,0.000232558,EVS_EA_AF,OTOF
427994,2:26694037:G>A,NM_194248.2:c.3865-19C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,3.989,\N,\N,OTOF
427995,2:26694039:C>T,NM_194248.2:c.3865-21G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,5.513,0.000453926,EVS_AA_AF,OTOF
427996,2:26694039:CAG>C,NM_194248.2:c.3865-23_3865-22del,\N,\N,30/46,Unknown significance,\N,intron_variant,7.664,0.000014997,EXAC_NFE_AF,OTOF
427997,2:26694042:G>A,NM_194248.2:c.3865-24C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,7.936,\N,\N,OTOF
427998,2:26694056:A>T,NM_194248.2:c.3865-38T>A,\N,\N,30/46,Unknown significance,\N,intron_variant,5.919,\N,\N,OTOF
427999,2:26694080:T>C,NM_194248.2:c.3865-62A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.107,\N,\N,OTOF
428000,2:26694083:C>T,NM_194248.2:c.3865-65G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,4.624,0.002,1KG_EUR_AF,OTOF
428001,2:26694101:G>T,NM_194248.2:c.3865-83C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,1.911,0.001,1KG_EUR_AF,OTOF
428002,2:26694109:G>A,NM_194248.2:c.3865-91C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,0.691,0.003,1KG_AFR_AF,OTOF
428003,2:26694131:G>C,NM_194248.2:c.3865-113C>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.414,0.0023,1KG_AFR_AF,OTOF
428004,2:26694175:A>G,NM_194248.2:c.3865-157T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,1.957,0.002,1KG_SAS_AF,OTOF
428005,2:26694185:G>A,NM_194248.2:c.3865-167C>T,\N,\N,30/46,Benign,\N,intron_variant,5.364,0.0219,1KG_EUR_AF,OTOF
428006,2:26694190:T>G,NM_194248.2:c.3865-172A>C,\N,\N,30/46,Unknown significance,\N,intron_variant,3.172,0.0008,1KG_AFR_AF,OTOF
428007,2:26694224:G>A,NM_194248.2:c.3865-206C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,11.79,0.001,1KG_EUR_AF,OTOF
428008,2:26694247:T>G,NM_194248.2:c.3865-229A>C,\N,\N,30/46,Unknown significance,\N,intron_variant,3.608,\N,\N,OTOF
428009,2:26694264:C>T,NM_194248.2:c.3865-246G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,4.361,0.0008,1KG_AFR_AF,OTOF
428010,2:26694274:T>C,NM_194248.2:c.3865-256A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,2.402,\N,\N,OTOF
428011,2:26694300:G>T,NM_194248.2:c.3865-282C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,2.754,\N,\N,OTOF
428012,2:26694352:A>G,NM_194248.2:c.3865-334T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,0.061,\N,\N,OTOF
428013,2:26694367:G>A,NM_194248.2:c.3865-349C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,6.034,\N,\N,OTOF
428014,2:26694371:G>A,NM_194248.2:c.3865-353C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,3.09,\N,\N,OTOF
428015,2:26694389:C>T,NM_194248.2:c.3865-371G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,3.709,0.001,1KG_EAS_AF,OTOF
428016,2:26694415:G>T,NM_194248.2:c.3865-397C>A,\N,\N,30/46,Benign,\N,intron_variant,1.264,0.0159,1KG_EUR_AF,OTOF
428017,2:26694420:G>A,NM_194248.2:c.3865-402C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,5.001,0.001,1KG_SAS_AF,OTOF
428018,2:26694442:T>TG,NM_194248.2:c.3865-425dup,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428019,2:26694443:G>A,NM_194248.2:c.3865-425C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,4.444,\N,\N,OTOF
428020,2:26694445:G>GA,NM_194248.2:c.3865-428dup,\N,\N,30/46,Benign,\N,intron_variant,2.002,0.1329,1KG_EAS_AF,OTOF
428021,2:26694463:C>G,NM_194248.2:c.3865-445G>C,\N,\N,30/46,Unknown significance,\N,intron_variant,4.179,0.0023,1KG_AFR_AF,OTOF
428022,2:26694532:A>G,NM_194248.2:c.3865-514T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,7.579,\N,\N,OTOF
428023,2:26694568:C>G,NM_194248.2:c.3865-550G>C,\N,\N,30/46,Unknown significance,\N,intron_variant,2.248,\N,\N,OTOF
428024,2:26694578:T>C,NM_194248.2:c.3865-560A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,2.59,\N,\N,OTOF
428025,2:26694610:AC>A,NM_194248.2:c.3865-593del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428026,2:26694614:C>A,NM_194248.2:c.3865-596G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,0.283,\N,\N,OTOF
428027,2:26694614:C>T,NM_194248.2:c.3865-596G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.166,0.0015,1KG_AFR_AF,OTOF
428028,2:26694619:T>G,NM_194248.2:c.3865-601A>C,\N,\N,30/46,Unknown significance,\N,intron_variant,1.114,\N,\N,OTOF
428029,2:26694627:C>T,NM_194248.2:c.3865-609G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,3.223,0.0008,1KG_AFR_AF,OTOF
428030,2:26694628:G>A,NM_194248.2:c.3865-610C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.712,0.002,1KG_EAS_AF,OTOF
428031,2:26694631:T>C,NM_194248.2:c.3865-613A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.221,0.0014,1KG_AMR_AF,OTOF
428032,2:26694635:C>T,NM_194248.2:c.3865-617G>A,\N,\N,30/46,Benign,\N,intron_variant,3.257,0.1157,1KG_AFR_AF,OTOF
428033,2:26694636:A>G,NM_194248.2:c.3865-618T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,3.343,\N,\N,OTOF
428034,2:26694641:C>G,NM_194248.2:c.3865-623G>C,\N,\N,30/46,Unknown significance,\N,intron_variant,0.119,\N,\N,OTOF
428035,2:26694641:C>T,NM_194248.2:c.3865-623G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.317,0.0014,1KG_AMR_AF,OTOF
428036,2:26694642:G>A,NM_194248.2:c.3865-624C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,1.926,0.0015,1KG_AFR_AF,OTOF
428037,2:26694648:C>T,NM_194248.2:c.3865-630G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,1.781,0.0014,1KG_AMR_AF,OTOF
428038,2:26694649:G>A,NM_194248.2:c.3865-631C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,0.311,\N,\N,OTOF
428039,2:26694652:A>C,NM_194248.2:c.3865-634T>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.3,\N,\N,OTOF
428040,2:26694680:C>T,NM_194248.2:c.3865-662G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,2.081,\N,\N,OTOF
428041,2:26694682:C>CCACATGCA,NM_194248.2:c.3865-672_3865-665dup,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428042,2:26694682:CCACATGCA>C,NM_194248.2:c.3865-672_3865-665del,\N,\N,30/46,Benign,\N,intron_variant,3.954,0.0197,1KG_AFR_AF,OTOF
428043,2:26694701:C>T,NM_194248.2:c.3865-683G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,2.844,\N,\N,OTOF
428044,2:26694703:T>C,NM_194248.2:c.3864+684A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.861,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
428045,2:26694709:TTTACATACCAC>T,NM_194248.2:c.3864+667_3864+677del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428046,2:26694716:A>G,NM_194248.2:c.3864+671T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,1.905,\N,\N,OTOF
428047,2:26694734:CAT>C,NM_194248.2:c.3864+651_3864+652del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428048,2:26694749:G>A,NM_194248.2:c.3864+638C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.451,0.0041,1KG_SAS_AF,OTOF
428049,2:26694762:T>C,NM_194248.2:c.3864+625A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,3.958,\N,\N,OTOF
428050,2:26694771:A>C,NM_194248.2:c.3864+616T>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.432,0.003,1KG_EAS_AF,OTOF
428051,2:26694786:G>A,NM_194248.2:c.3864+601C>T,\N,\N,30/46,Benign,\N,intron_variant,6.091,0.1329,1KG_EAS_AF,OTOF
428052,2:26694804:C>T,NM_194248.2:c.3864+583G>A,\N,\N,30/46,Benign,\N,intron_variant,2.779,0.0061,1KG_SAS_AF,OTOF
428053,2:26694833:T>C,NM_194248.2:c.3864+554A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,7.448,\N,\N,OTOF
428054,2:26694835:T>C,NM_194248.2:c.3864+552A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,5.762,\N,\N,OTOF
428055,2:26694844:ACAC>A,NM_194248.2:c.3864+540_3864+542del,\N,\N,30/46,Unknown significance,\N,intron_variant,8.05,\N,\N,OTOF
428056,2:26694853:GCA>G,NM_194248.2:c.3864+532_3864+533del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428057,2:26694857:A>G,NM_194248.2:c.3864+530T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,2.764,\N,\N,OTOF
428058,2:26694864:T>C,NM_194248.2:c.3864+523A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.215,0.0014,1KG_AMR_AF,OTOF
428059,2:26694892:C>A,NM_194248.2:c.3864+495G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,3.171,0.001,1KG_EUR_AF,OTOF
428060,2:26694896:C>T,NM_194248.2:c.3864+491G>A,\N,\N,30/46,Benign,\N,intron_variant,0.125,0.129,1KG_EAS_AF,OTOF
428061,2:26694897:G>A,NM_194248.2:c.3864+490C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,1.444,0.001,1KG_EUR_AF,OTOF
428062,2:26694904:C>A,NM_194248.2:c.3864+483G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.697,0.001,1KG_EAS_AF,OTOF
428063,2:26694915:A>G,NM_194248.2:c.3864+472T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,5.89,0.0008,1KG_AFR_AF,OTOF
428064,2:26694931:T>C,NM_194248.2:c.3864+456A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,3.72,\N,\N,OTOF
428065,2:26694941:C>A,NM_194248.2:c.3864+446G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.945,0.001,1KG_SAS_AF,OTOF
428066,2:26694942:A>G,NM_194248.2:c.3864+445T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,3.48,\N,\N,OTOF
428067,2:26694943:C>T,NM_194248.2:c.3864+444G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,2.293,0.001,1KG_EAS_AF,OTOF
428068,2:26694944:G>C,NM_194248.2:c.3864+443C>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.018,\N,\N,OTOF
428069,2:26694951:T>C,NM_194248.2:c.3864+436A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.675,0.001,1KG_SAS_AF,OTOF
428070,2:26694957:T>C,NM_194248.2:c.3864+430A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.576,0.0008,1KG_AFR_AF,OTOF
428071,2:26694990:A>G,NM_194248.2:c.3864+397T>C,\N,\N,30/46,Benign,\N,intron_variant,2.569,0.1339,1KG_EAS_AF,OTOF
428072,2:26694991:C>T,NM_194248.2:c.3864+396G>A,\N,\N,30/46,Benign,\N,intron_variant,0.398,0.0197,1KG_AFR_AF,OTOF
428073,2:26694992:G>A,NM_194248.2:c.3864+395C>T,\N,\N,30/46,Benign,\N,intron_variant,1.942,0.0257,1KG_AFR_AF,OTOF
428074,2:26694992:G>T,NM_194248.2:c.3864+395C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.514,\N,\N,OTOF
428075,2:26694995:C>T,NM_194248.2:c.3864+392G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,1.818,0.001,1KG_EUR_AF,OTOF
428076,2:26694996:G>A,NM_194248.2:c.3864+391C>T,\N,\N,30/46,Benign,\N,intron_variant,0.356,0.0082,1KG_SAS_AF,OTOF
428077,2:26694996:G>T,NM_194248.2:c.3864+391C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.076,0.001,1KG_EUR_AF,OTOF
428078,2:26695015:C>G,NM_194248.2:c.3864+372G>C,\N,\N,30/46,Unknown significance,\N,intron_variant,1.34,0.0041,1KG_SAS_AF,OTOF
428079,2:26695022:T>C,NM_194248.2:c.3864+365A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.221,\N,\N,OTOF
428080,2:26695023:ACATGCACACACACATG>A,NM_194248.2:c.3864+348_3864+363del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428081,2:26695058:A>G,NM_194248.2:c.3864+329T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,2.194,0.0014,1KG_AMR_AF,OTOF
428082,2:26695059:C>A,NM_194248.2:c.3864+328G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.633,0.0008,1KG_AFR_AF,OTOF
428083,2:26695091:C>T,NM_194248.2:c.3864+296G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.016,\N,\N,OTOF
428084,2:26695094:A>T,NM_194248.2:c.3864+293T>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.88,0.003,1KG_EAS_AF,OTOF
428085,2:26695100:G>A,NM_194248.2:c.3864+287C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,0.302,0.0014,1KG_AMR_AF,OTOF
428086,2:26695106:A>G,NM_194248.2:c.3864+281T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,1.341,0.0014,1KG_AMR_AF,OTOF
428087,2:26695123:G>A,NM_194248.2:c.3864+264C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.251,0.0008,1KG_AFR_AF,OTOF
428088,2:26695131:A>G,NM_194248.2:c.3864+256T>C,\N,\N,30/46,Unknown significance,\N,intron_variant,0.118,\N,\N,OTOF
428089,2:26695143:A>G,NM_194248.2:c.3864+244T>C,\N,\N,30/46,Benign,\N,intron_variant,1.549,0.4908,1KG_SAS_AF,OTOF
428090,2:26695144:T>G,NM_194248.2:c.3864+243A>C,\N,\N,30/46,Unknown significance,\N,intron_variant,4.692,0.001,1KG_EAS_AF,OTOF
428091,2:26695152:CCA>C,NM_194248.2:c.3864+233_3864+234del,\N,\N,30/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428092,2:26695157:C>A,NM_194248.2:c.3864+230G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.797,0.0008,1KG_AFR_AF,OTOF
428093,2:26695158:A>T,NM_194248.2:c.3864+229T>A,\N,\N,30/46,Benign,\N,intron_variant,0.6,0.0076,1KG_AFR_AF,OTOF
428094,2:26695161:T>C,NM_194248.2:c.3864+226A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.618,0.001,1KG_EAS_AF|1KG_EUR_AF,OTOF
428095,2:26695163:C>T,NM_194248.2:c.3864+224G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,3.692,\N,\N,OTOF
428096,2:26695164:G>A,NM_194248.2:c.3864+223C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.306,0.002,1KG_EAS_AF,OTOF
428097,2:26695173:T>C,NM_194248.2:c.3864+214A>G,\N,\N,30/46,Benign,\N,intron_variant,1.794,0.0159,1KG_AFR_AF,OTOF
428098,2:26695193:G>A,NM_194248.2:c.3864+194C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.311,0.001,1KG_EUR_AF,OTOF
428099,2:26695196:C>T,NM_194248.2:c.3864+191G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,6.151,\N,\N,OTOF
428100,2:26695197:G>A,NM_194248.2:c.3864+190C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,6.188,0.002,1KG_EAS_AF,OTOF
428101,2:26695198:C>T,NM_194248.2:c.3864+189G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,5.578,\N,\N,OTOF
428102,2:26695256:C>A,NM_194248.2:c.3864+131G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,6.796,0.002,1KG_SAS_AF,OTOF
428103,2:26695258:C>A,NM_194248.2:c.3864+129G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,5.729,0.001,1KG_EAS_AF,OTOF
428104,2:26695260:C>T,NM_194248.2:c.3864+127G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,5.25,0.001,1KG_EUR_AF,OTOF
428105,2:26695271:T>C,NM_194248.2:c.3864+116A>G,\N,\N,30/46,Unknown significance,\N,intron_variant,3.414,0.0031,1KG_SAS_AF,OTOF
428106,2:26695285:C>T,NM_194248.2:c.3864+102G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,4.634,0.0008,1KG_AFR_AF,OTOF
428107,2:26695288:A>C,NM_194248.2:c.3864+99T>G,\N,\N,30/46,Unknown significance,\N,intron_variant,0.585,0.0000458351,EXAC_NFE_AF,OTOF
428108,2:26695303:C>T,NM_194248.2:c.3864+84G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,6.062,0.00206408,EXAC_AFR_AF,OTOF
428109,2:26695304:G>A,NM_194248.2:c.3864+83C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,2.074,0.00223714,EXAC_OTH_AF,OTOF
428110,2:26695307:G>T,NM_194248.2:c.3864+80C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,2.292,0.0000457359,EXAC_NFE_AF,OTOF
428111,2:26695313:A>T,NM_194248.2:c.3864+74T>A,\N,\N,30/46,Unknown significance,\N,intron_variant,0.241,0.001,1KG_EUR_AF,OTOF
428112,2:26695319:GT>G,NM_194248.2:c.3864+67del,\N,\N,30/46,Unknown significance,\N,intron_variant,0.758,0.0000605987,EXAC_SAS_AF,OTOF
428113,2:26695319:G>T,NM_194248.2:c.3864+68C>A,\N,\N,30/46,Unknown significance,\N,intron_variant,4.508,0.000116063,EXAC_EAS_AF,OTOF
428114,2:26695338:C>T,NM_194248.2:c.3864+49G>A,\N,\N,30/46,Benign,\N,intron_variant,1.561,0.087,1KG_AFR_AF,OTOF
428115,2:26695339:G>A,NM_194248.2:c.3864+48C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,4.158,0.0000606686,EXAC_NFE_AF,OTOF
428116,2:26695339:G>C,NM_194248.2:c.3864+48C>G,\N,\N,30/46,Unknown significance,\N,intron_variant,1.227,0.0000605914,EXAC_SAS_AF,OTOF
428117,2:26695347:A>G,NM_194248.2:c.3864+40T>C,\N,\N,30/46,Benign,\N,intron_variant,1.216,0.1172,1KG_AFR_AF,OTOF
428118,2:26695349:G>A,NM_194248.2:c.3864+38C>T,\N,\N,30/46,Unknown significance,\N,intron_variant,4.443,0.0000605914,EXAC_SAS_AF,OTOF
428119,2:26695354:C>T,NM_194248.2:c.3864+33G>A,\N,\N,30/46,Benign,\N,intron_variant,6.744,0.087,1KG_AFR_AF,OTOF
428120,2:26695368:C>T,NM_194248.2:c.3864+19G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,7.656,0.000116279,EVS_EA_AF,OTOF
428121,2:26695372:C>T,NM_194248.2:c.3864+15G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,7.715,0.0000151355,EXAC_NFE_AF,OTOF
428122,2:26695376:AC>A,NM_194248.2:c.3864+10del,\N,\N,30/46,Unknown significance,\N,intron_variant,7.977,\N,\N,OTOF
428123,2:26695377:C>A,NM_194248.2:c.3864+10G>T,\N,\N,30/46,Unknown significance,\N,intron_variant,10.53,0.0000968617,EXAC_AFR_AF,OTOF
428124,2:26695378:C>T,NM_194248.2:c.3864+9G>A,\N,\N,30/46,Unknown significance,\N,intron_variant,12.11,0.0000151309,EXAC_NFE_AF,OTOF
428125,2:26695379:C>T,NM_194248.2:c.3864+8G>A,\N,\N,30/46,Unknown significance,\N,splice_region_variant&intron_variant,11.91,0.000105916,EXAC_NFE_AF,OTOF
428126,2:26695380:G>A,NM_194248.2:c.3864+7C>T,\N,\N,30/46,Unknown significance,\N,splice_region_variant&intron_variant,11.18,0.00001513,EXAC_NFE_AF,OTOF
428127,2:26695384:T>C,NM_194248.2:c.3864+3A>G,\N,\N,30/46,Unknown significance,\N,splice_region_variant&intron_variant,13.52,0.00017319,EXAC_AMR_AF,OTOF
428128,2:26695385:A>T,NM_194248.2:c.3864+2T>A,\N,\N,30/46,Unknown significance,\N,splice_donor_variant,24.7,0.0000865951,EXAC_AMR_AF,OTOF
428129,2:26695386:C>T,NM_194248.2:c.3864+1G>A,\N,\N,30/46,Unknown significance,\N,splice_donor_variant,26.5,0.0000151291,EXAC_NFE_AF,OTOF
428130,2:26695388:G>A,NM_194248.2:c.3863C>T,NP_919224.1:p.Ala1288Val,30/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.1,0.0015,1KG_AFR_AF,OTOF
428131,2:26695389:C>T,NM_194248.2:c.3862G>A,NP_919224.1:p.Ala1288Thr,30/47,\N,Likely benign,\N,missense_variant&splice_region_variant,23.2,0.0000302618,EXAC_NFE_AF,OTOF
428132,2:26695390:G>A,NM_194248.2:c.3861C>T,NP_919224.1:p.Asp1287=,30/47,\N,Unknown significance,\N,synonymous_variant,9.99,0.000226963,EVS_AA_AF,OTOF
428133,2:26695425:G>A,NM_194248.2:c.3826C>T,NP_919224.1:p.Pro1276Ser,30/47,\N,Likely benign,\N,missense_variant,15.03,0.0000151662,EXAC_NFE_AF,OTOF
428134,2:26695427:A>C,NM_194248.2:c.3824T>G,NP_919224.1:p.Val1275Gly,30/47,\N,Likely benign,\N,missense_variant,14.24,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428135,2:26695441:A>T,NM_194248.2:c.3810T>A,NP_919224.1:p.Thr1270=,30/47,\N,Unknown significance,\N,synonymous_variant,0.477,0.0000151897,EXAC_NFE_AF,OTOF
428136,2:26695449:C>G,NM_194248.2:c.3802G>C,NP_919224.1:p.Val1268Leu,30/47,\N,Likely benign,\N,missense_variant,17.87,0.000015211,EXAC_NFE_AF,OTOF
428137,2:26695451:A>C,NM_194248.2:c.3800T>G,NP_919224.1:p.Val1267Gly,30/47,\N,Unknown significance,\N,missense_variant,22,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428138,2:26695452:C>T,NM_194248.2:c.3799G>A,NP_919224.1:p.Val1267Ile,30/47,\N,Likely benign,\N,missense_variant,14.23,0.0000607017,EXAC_SAS_AF,OTOF
428139,2:26695459:T>A,NM_004802.3:c.1493-2A>T,\N,\N,12/29,Unknown significance,\N,splice_acceptor_variant,14.25,0.0000304869,EXAC_NFE_AF,OTOF
428140,2:26695460:G>A,NM_194248.2:c.3791C>T,NP_919224.1:p.Thr1264Ile,30/47,\N,Unknown significance,\N,missense_variant,21.5,0.000907853,EVS_AA_AF,OTOF
428141,2:26695462:G>A,NM_194248.2:c.3789C>T,NP_919224.1:p.Ser1263=,30/47,\N,Unknown significance,\N,synonymous_variant,12.54,0.0000870474,EXAC_AMR_AF,OTOF
428142,2:26695466:T>G,NM_194248.2:c.3785A>C,NP_919224.1:p.His1262Pro,30/47,\N,Likely benign,\N,missense_variant,8.124,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428143,2:26695467:G>T,NM_194248.2:c.3784C>A,NP_919224.1:p.His1262Asn,30/47,\N,Unknown significance,\N,missense_variant,12.14,0.00113122,EXAC_OTH_AF,OTOF
428144,2:26695468:AGAG>A,NM_194248.2:c.3780_3782del,NP_919224.1:p.Ser1261del,30/47,\N,Unknown significance,\N,inframe_deletion,11.29,0.0000978857,EXAC_AFR_AF,OTOF
428145,2:26695473:A>C,NM_194248.2:c.3778T>G,NP_919224.1:p.Ser1260Ala,30/47,\N,Unknown significance,\N,missense_variant,5.955,0.0000873057,EXAC_AMR_AF,OTOF
428146,2:26695474:G>T,NM_194248.2:c.3777C>A,NP_919224.1:p.Ser1259=,30/47,\N,Unknown significance,\N,synonymous_variant,8.311,0.0000872905,EXAC_AMR_AF,OTOF
428147,2:26695487:C>A,NM_194248.2:c.3764G>T,NP_919224.1:p.Cys1255Phe,30/47,\N,Likely benign,\N,missense_variant,19.16,0.0000613196,EXAC_SAS_AF,OTOF
428148,2:26695491:G>A,NM_194248.2:c.3760C>T,NP_919224.1:p.Leu1254=,30/47,\N,Unknown significance,\N,synonymous_variant,7.871,0.0000892061,EXAC_AMR_AF,OTOF
428149,2:26695491:G>T,NM_194248.2:c.3760C>A,NP_919224.1:p.Leu1254Met,30/47,\N,Unknown significance,\N,missense_variant,13.08,0.0000616979,EXAC_SAS_AF,OTOF
428150,2:26695496:C>T,NM_194248.2:c.3755G>A,NP_919224.1:p.Arg1252His,30/47,\N,Likely benign,\N,missense_variant,0.908,0.0000469337,EXAC_NFE_AF,OTOF
428151,2:26695497:G>A,NM_194322.2:c.1684C>T,NP_919303.1:p.Arg562Cys,12/29,\N,Likely benign,\N,missense_variant,22.6,0.001,1KG_SAS_AF,OTOF
428152,2:26695500:A>C,NM_194248.2:c.3751T>G,NP_919224.1:p.Cys1251Gly,30/47,\N,Benign,\N,missense_variant,0.003,0.0253884,EXAC_NFE_AF,OTOF
428153,2:26695502:C>T,NM_194248.2:c.3749G>A,NP_919224.1:p.Arg1250His,30/47,\N,Likely benign,\N,missense_variant,16.36,0.0000315229,EXAC_NFE_AF,OTOF
428154,2:26695503:G>A,NM_194248.2:c.3748C>T,NP_919224.1:p.Arg1250Cys,30/47,\N,Likely benign,\N,missense_variant,21,0.000360664,EXAC_EAS_AF,OTOF
428155,2:26695505:C>G,NM_194248.2:c.3746G>C,NP_919224.1:p.Arg1249Pro,30/47,\N,Likely benign,\N,missense_variant,15.75,0.000227066,EVS_AA_AF,OTOF
428156,2:26695505:C>T,NM_194248.2:c.3746G>A,NP_919224.1:p.Arg1249Gln,30/47,\N,Likely benign,\N,missense_variant,13.63,0.0000474398,EXAC_NFE_AF,OTOF
428157,2:26695506:G>A,NM_001287489.1:c.3745C>T,NP_001274418.1:p.Arg1249Trp,30/46,\N,Benign,\N,missense_variant,24.1,0.005,OTO_TR_AF,OTOF
428158,2:26695519:T>A,NM_194248.2:c.3734-2A>T,\N,\N,29/46,Unknown significance,\N,splice_acceptor_variant,24.7,0.0000632751,EXAC_SAS_AF,OTOF
428159,2:26695527:T>G,NM_194248.2:c.3734-10A>C,\N,\N,29/46,Benign,\N,intron_variant,2.595,0.0197,1KG_AFR_AF,OTOF
428160,2:26695530:A>G,NM_194248.2:c.3734-13T>C,\N,\N,29/46,Likely benign,\N,intron_variant,2.464,0.00255537,EXAC_AFR_AF,OTOF
428161,2:26695531:T>C,NM_194248.2:c.3734-14A>G,\N,\N,29/46,Unknown significance,\N,intron_variant,0.483,0.0000162829,EXAC_NFE_AF,OTOF
428162,2:26695531:T>G,NM_194248.2:c.3734-14A>C,\N,\N,29/46,Unknown significance,\N,intron_variant,1.354,0.000116333,EVS_EA_AF,OTOF
428163,2:26695535:T>TG,NM_194248.2:c.3734-19dup,\N,\N,29/46,Unknown significance,\N,intron_variant,2.014,0.000511247,EXAC_SAS_AF,OTOF
428164,2:26695536:GGACA>G,NM_194248.2:c.3734-23_3734-20del,\N,\N,29/46,Unknown significance,\N,intron_variant,10.38,0.0000163972,EXAC_NFE_AF,OTOF
428165,2:26695537:G>C,NM_194248.2:c.3734-20C>G,\N,\N,29/46,Unknown significance,\N,intron_variant,1.069,0.0000965251,EXAC_AMR_AF,OTOF
428166,2:26695543:C>T,NM_194248.2:c.3734-26G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,5.621,0.0000164946,EXAC_NFE_AF,OTOF
428167,2:26695545:G>A,NM_194248.2:c.3734-28C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,5.328,0.000488377,EXAC_AMR_AF,OTOF
428168,2:26695553:A>G,NM_194248.2:c.3734-36T>C,\N,\N,29/46,Unknown significance,\N,intron_variant,6.924,0.001,1KG_EAS_AF,OTOF
428169,2:26695558:G>A,NM_194248.2:c.3734-41C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,7.806,0.000454339,EVS_AA_AF,OTOF
428170,2:26695559:C>G,NM_194248.2:c.3734-42G>C,\N,\N,29/46,Unknown significance,\N,intron_variant,8.358,0.00039185,EXAC_SAS_AF,OTOF
428171,2:26695562:G>A,NM_194248.2:c.3734-45C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,10.02,\N,\N,OTOF
428172,2:26695564:G>A,NM_194248.2:c.3734-47C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,8.81,0.000102103,EXAC_AMR_AF,OTOF
428173,2:26695568:CAGTGA>G,NM_194248.2:c.3734-56_3734-51delinsC,\N,\N,29/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428174,2:26695596:G>A,NM_194248.2:c.3734-79C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,5.504,0.001,1KG_SAS_AF,OTOF
428175,2:26695606:A>AC,NM_194248.2:c.3734-90_3734-89insG,\N,\N,29/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428176,2:26695616:G>A,NM_194248.2:c.3734-99C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,9.173,0.001,1KG_EAS_AF,OTOF
428177,2:26695634:G>A,NM_194248.2:c.3734-117C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,3.614,\N,\N,OTOF
428178,2:26695646:G>A,NM_194248.2:c.3734-129C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,3.816,0.0008,1KG_AFR_AF,OTOF
428179,2:26695662:TG>T,NM_194248.2:c.3734-146del,\N,\N,29/46,Unknown significance,\N,intron_variant,7.101,0.0041,1KG_SAS_AF,OTOF
428180,2:26695682:G>C,NM_194248.2:c.3734-165C>G,\N,\N,29/46,Benign,\N,intron_variant,1.456,0.0091,1KG_AFR_AF,OTOF
428181,2:26695686:G>C,NM_194248.2:c.3734-169C>G,\N,\N,29/46,Unknown significance,\N,intron_variant,7.274,0.0038,1KG_AFR_AF,OTOF
428182,2:26695687:C>T,NM_194248.2:c.3734-170G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,8.907,\N,\N,OTOF
428183,2:26695689:C>T,NM_194248.2:c.3734-172G>A,\N,\N,29/46,Benign,\N,intron_variant,2.745,0.0893,1KG_AFR_AF,OTOF
428184,2:26695707:C>T,NM_194248.2:c.3734-190G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,0.541,\N,\N,OTOF
428185,2:26695708:G>A,NM_194248.2:c.3734-191C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,0.697,0.0041,1KG_SAS_AF,OTOF
428186,2:26695714:C>T,NM_194248.2:c.3734-197G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,1.881,0.0014,1KG_AMR_AF,OTOF
428187,2:26695724:G>C,NM_194248.2:c.3734-207C>G,\N,\N,29/46,Unknown significance,\N,intron_variant,0.089,\N,\N,OTOF
428188,2:26695729:G>A,NM_194248.2:c.3734-212C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,1.464,0.0008,1KG_AFR_AF,OTOF
428189,2:26695731:C>T,NM_194248.2:c.3734-214G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,3.937,0.0014,1KG_AMR_AF,OTOF
428190,2:26695739:C>G,NM_194248.2:c.3734-222G>C,\N,\N,29/46,Unknown significance,\N,intron_variant,2.083,0.002,1KG_EAS_AF,OTOF
428191,2:26695785:G>GC,NM_194248.2:c.3733+214dup,\N,\N,29/46,Benign,\N,intron_variant,1.82,0.0197,1KG_AFR_AF,OTOF
428192,2:26695785:GC>G,NM_194248.2:c.3733+214del,\N,\N,29/46,Unknown significance,\N,intron_variant,3.029,\N,\N,OTOF
428193,2:26695792:C>G,NM_194248.2:c.3733+208G>C,\N,\N,29/46,Unknown significance,\N,intron_variant,1.141,\N,\N,OTOF
428194,2:26695811:C>A,NM_194248.2:c.3733+189G>T,\N,\N,29/46,Unknown significance,\N,intron_variant,12.34,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
428195,2:26695819:G>A,NM_194248.2:c.3733+181C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,9.164,\N,\N,OTOF
428196,2:26695829:C>G,NM_194248.2:c.3733+171G>C,\N,\N,29/46,Unknown significance,\N,intron_variant,2.258,\N,\N,OTOF
428197,2:26695829:C>T,NM_194248.2:c.3733+171G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,2.939,\N,\N,OTOF
428198,2:26695848:C>T,NM_194248.2:c.3733+152G>A,\N,\N,29/46,Benign,\N,intron_variant,13.1,0.0068,1KG_AFR_AF,OTOF
428199,2:26695874:C>T,NM_194248.2:c.3733+126G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,5.56,0.0041,1KG_SAS_AF,OTOF
428200,2:26695931:G>T,NM_194248.2:c.3733+69C>A,\N,\N,29/46,Unknown significance,\N,intron_variant,1.58,\N,\N,OTOF
428201,2:26695932:C>T,NM_194248.2:c.3733+68G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,3.971,0.001,1KG_EUR_AF,OTOF
428202,2:26695936:G>A,NM_194248.2:c.3733+64C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,5.236,0.001,1KG_EUR_AF,OTOF
428203,2:26695953:TG>T,NM_194248.2:c.3733+46del,\N,\N,29/46,Unknown significance,\N,intron_variant,0.896,0.00151727,EXAC_AFR_AF,OTOF
428204,2:26695956:G>T,NM_194248.2:c.3733+44C>A,\N,\N,29/46,Unknown significance,\N,intron_variant,0.154,0.000928074,EXAC_AFR_AF,OTOF
428205,2:26695958:G>T,NM_194248.2:c.3733+42C>A,\N,\N,29/46,Unknown significance,\N,intron_variant,1.785,\N,\N,OTOF
428206,2:26695959:G>T,NM_194248.2:c.3733+41C>A,\N,\N,29/46,Unknown significance,\N,intron_variant,0.639,0.0023,1KG_AFR_AF,OTOF
428207,2:26695960:C>CGTGGA,NM_194248.2:c.3733+35_3733+39dup,\N,\N,29/46,Unknown significance,\N,intron_variant,3.096,0.0000161103,EXAC_NFE_AF,OTOF
428208,2:26695960:C>T,NM_194248.2:c.3733+40G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,3.907,0.0000161103,EXAC_NFE_AF,OTOF
428209,2:26695961:G>A,NM_194248.2:c.3733+39C>T,\N,\N,29/46,Benign,\N,intron_variant,1.023,0.0197,1KG_AFR_AF,OTOF
428210,2:26695966:G>A,NM_194248.2:c.3733+34C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,5.751,0.000237023,EXAC_EAS_AF,OTOF
428211,2:26695968:C>T,NM_194248.2:c.3733+32G>A,\N,\N,29/46,Unknown significance,\N,intron_variant,5.891,0.000457561,EXAC_AFR_AF,OTOF
428212,2:26695975:G>C,NM_194248.2:c.3733+25C>G,\N,\N,29/46,Unknown significance,\N,intron_variant,4.484,0.0000160251,EXAC_NFE_AF,OTOF
428213,2:26695977:T>G,NM_194248.2:c.3733+23A>C,\N,\N,29/46,Unknown significance,\N,intron_variant,4.463,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428214,2:26695982:G>A,NM_194248.2:c.3733+18C>T,\N,\N,29/46,Unknown significance,\N,intron_variant,9.412,0.0000629723,EXAC_SAS_AF,OTOF
428215,2:26695985:T>G,NM_194248.2:c.3733+15A>C,\N,\N,29/46,Benign,\N,intron_variant,11.72,0.025,OTO_US_AF,OTOF
428216,2:26695986:G>T,NM_194248.2:c.3733+14C>A,\N,\N,29/46,Unknown significance,\N,intron_variant,9.566,0.0000158851,EXAC_NFE_AF,OTOF
428217,2:26695992:G>A,NM_194248.2:c.3733+8C>T,\N,\N,29/46,Unknown significance,\N,splice_region_variant&intron_variant,13.46,0.000124875,EXAC_SAS_AF,OTOF
428218,2:26695994:C>G,NM_194248.2:c.3733+6G>C,\N,\N,29/46,Unknown significance,\N,splice_region_variant&intron_variant,14.45,0.000249439,EXAC_SAS_AF,OTOF
428219,2:26695999:C>T,NM_194248.2:c.3733+1G>A,\N,\N,29/46,Unknown significance,\N,splice_donor_variant,25.4,0.0000157724,EXAC_NFE_AF,OTOF
428220,2:26696002:G>A,NM_004802.3:c.1490C>T,NP_004793.2:p.Thr497Met,12/30,\N,Unknown significance,\N,missense_variant&splice_region_variant,20.7,0.000226963,EVS_AA_AF,OTOF
428221,2:26696006:T>G,NM_194248.2:c.3727A>C,NP_919224.1:p.Thr1243Pro,29/47,\N,Likely benign,\N,missense_variant,18.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428222,2:26696013:GCTGGGGGCCGAGCGGT>G,NM_194248.2:c.3704_3719del,NP_919224.1:p.Asp1235AlafsTer30,29/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,36,\N,\N,OTOF
428223,2:26696014:C>A,NM_194248.2:c.3719G>T,NP_919224.1:p.Ser1240Ile,29/47,\N,Likely benign,\N,missense_variant,16.05,0.0000312969,EXAC_NFE_AF,OTOF
428224,2:26696014:C>G,NM_194248.2:c.3719G>C,NP_919224.1:p.Ser1240Thr,29/47,\N,Likely benign,\N,missense_variant,7.016,0.0000156485,EXAC_NFE_AF,OTOF
428225,2:26696019:G>T,NM_194248.2:c.3714C>A,NP_919224.1:p.Ala1238=,29/47,\N,Unknown significance,\N,synonymous_variant,10.45,0.000117233,EXAC_EAS_AF,OTOF
428226,2:26696020:G>A,NM_194248.2:c.3713C>T,NP_919224.1:p.Ala1238Val,29/47,\N,Likely benign,\N,missense_variant,23.1,0.000117206,EXAC_EAS_AF,OTOF
428227,2:26696021:C>T,NM_194248.2:c.3712G>A,NP_919224.1:p.Ala1238Thr,29/47,\N,Likely benign,\N,missense_variant,19.84,0.00024432,EXAC_SAS_AF,OTOF
428228,2:26696022:C>G,NM_194248.2:c.3711G>C,NP_919224.1:p.Ser1237=,29/47,\N,Unknown significance,\N,synonymous_variant,14.85,0.0000873057,EXAC_AMR_AF,OTOF
428229,2:26696022:C>T,NM_194248.2:c.3711G>A,NP_919224.1:p.Ser1237=,29/47,\N,Unknown significance,\N,synonymous_variant,19.01,0.0008,1KG_AFR_AF,OTOF
428230,2:26696023:G>A,NM_194248.2:c.3710C>T,NP_919224.1:p.Ser1237Leu,29/47,\N,Likely benign,\N,missense_variant,21.4,0.000015555,EXAC_NFE_AF,OTOF
428231,2:26696026:C>T,NM_194248.2:c.3707G>A,NP_919224.1:p.Arg1236His,29/47,\N,Likely benign,\N,missense_variant,22.7,0.0014,1KG_AMR_AF,OTOF
428232,2:26696027:G>C,NM_194248.2:c.3706C>G,NP_919224.1:p.Arg1236Gly,29/47,\N,Unknown significance,\N,missense_variant,22.7,0.002331,EXAC_OTH_AF,OTOF
428233,2:26696027:G>A,NM_001287489.1:c.3706C>T,NP_001274418.1:p.Arg1236Cys,29/46,\N,Unknown significance,\N,missense_variant,23.9,0.0000155039,EXAC_NFE_AF,OTOF
428234,2:26696028:G>C,NM_194248.2:c.3705C>G,NP_919224.1:p.Asp1235Glu,29/47,\N,Unknown significance,\N,missense_variant,13.63,0.000233754,EXAC_EAS_AF,OTOF
428235,2:26696031:T>C,NM_194248.2:c.3702A>G,NP_919224.1:p.Pro1234=,29/47,\N,Unknown significance,\N,synonymous_variant,7.335,0.000116768,EXAC_EAS_AF,OTOF
428236,2:26696032:G>A,NM_194248.2:c.3701C>T,NP_919224.1:p.Pro1234Leu,29/47,\N,Unknown significance,\N,missense_variant,20.6,0.0000309243,EXAC_NFE_AF,OTOF
428237,2:26696036:G>A,NM_194248.2:c.3697C>T,NP_919224.1:p.Pro1233Ser,29/47,\N,Unknown significance,\N,missense_variant,17.24,0.000425067,EXAC_SAS_AF,OTOF
428238,2:26696038:C>T,NM_194248.2:c.3695G>A,NP_919224.1:p.Arg1232Gln,29/47,\N,Unknown significance,\N,missense_variant,24.2,0.0014,1KG_AMR_AF,OTOF
428239,2:26696039:G>A,NM_194248.2:c.3694C>T,NP_919224.1:p.Arg1232Trp,29/47,\N,Unknown significance,\N,missense_variant,26.5,0.0000997208,EXAC_AFR_AF,OTOF
428240,2:26696040:G>A,NM_194248.2:c.3693C>T,NP_919224.1:p.Tyr1231=,29/47,\N,Unknown significance,\N,synonymous_variant,6.224,0.0000307796,EXAC_NFE_AF,OTOF
428241,2:26696050:C>T,NM_194248.2:c.3683G>A,NP_919224.1:p.Arg1228His,29/47,\N,Unknown significance,\N,missense_variant,25.6,0.0008,1KG_AFR_AF,OTOF
428242,2:26696050:C>A,NM_194322.2:c.1613G>T,NP_919303.1:p.Arg538Leu,11/29,\N,Pathogenic,Deafness,missense_variant,26.7,\N,\N,OTOF
428243,2:26696051:G>A,NM_194248.2:c.3682C>T,NP_919224.1:p.Arg1228Cys,29/47,\N,Unknown significance,\N,missense_variant,32,0.000545785,EXAC_SAS_AF,OTOF
428244,2:26696053:C>G,NM_194248.2:c.3680G>C,NP_919224.1:p.Arg1227Pro,29/47,\N,Unknown significance,\N,missense_variant,28,0.0000606502,EXAC_SAS_AF,OTOF
428245,2:26696053:C>T,NM_194248.2:c.3680G>A,NP_919224.1:p.Arg1227Gln,29/47,\N,Unknown significance,\N,missense_variant,28.3,0.0000606502,EXAC_SAS_AF,OTOF
428246,2:26696054:G>T,NM_194248.2:c.3679C>A,NP_919224.1:p.Arg1227=,29/47,\N,Likely benign,\N,synonymous_variant,12.36,0.00231481,EXAC_OTH_AF,OTOF
428247,2:26696054:G>A,NM_194248.2:c.3679C>T,NP_919224.1:p.Arg1227Ter,29/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,37,0.0000306673,EXAC_NFE_AF,OTOF
428248,2:26696056:A>G,NM_194248.2:c.3677T>C,NP_919224.1:p.Leu1226Pro,29/47,\N,Unknown significance,\N,missense_variant,28.6,0.0000986582,EXAC_AFR_AF,OTOF
428249,2:26696058:G>A,NM_194248.2:c.3675C>T,NP_919224.1:p.Ser1225=,29/47,\N,Unknown significance,\N,synonymous_variant,12.36,0.0000153135,EXAC_NFE_AF,OTOF
428250,2:26696066:C>T,NM_194248.2:c.3667G>A,NP_919224.1:p.Val1223Ile,29/47,\N,Unknown significance,\N,missense_variant,20.3,0.001,1KG_SAS_AF,OTOF
428251,2:26696070:A>C,NM_194248.2:c.3663T>G,NP_919224.1:p.His1221Gln,29/47,\N,Unknown significance,\N,missense_variant,20.4,0.0000152835,EXAC_NFE_AF,OTOF
428252,2:26696070:A>G,NM_194248.2:c.3663T>C,NP_919224.1:p.His1221=,29/47,\N,Unknown significance,\N,synonymous_variant,6.188,0.0000869414,EXAC_AMR_AF,OTOF
428253,2:26696074:G>A,NM_194248.2:c.3659C>T,NP_919224.1:p.Ser1220Phe,29/47,\N,Unknown significance,\N,missense_variant,28.9,0.0000606061,EXAC_SAS_AF,OTOF
428254,2:26696076:G>C,NM_194248.2:c.3657C>G,NP_919224.1:p.Gly1219=,29/47,\N,Unknown significance,\N,synonymous_variant,7.958,\N,\N,OTOF
428255,2:26696092:C>T,NM_194248.2:c.3641G>A,NP_919224.1:p.Arg1214His,29/47,\N,Unknown significance,\N,missense_variant,34,0.000181774,EXAC_SAS_AF,OTOF
428256,2:26696093:G>A,NM_194248.2:c.3640C>T,NP_919224.1:p.Arg1214Cys,29/47,\N,Unknown significance,\N,missense_variant,33,0.000156838,EXAC_FIN_AF,OTOF
428257,2:26696093:G>C,NM_194248.2:c.3640C>G,NP_919224.1:p.Arg1214Gly,29/47,\N,Unknown significance,\N,missense_variant,29.4,0.000015242,EXAC_NFE_AF,OTOF
428258,2:26696096:C>G,NM_194248.2:c.3637G>C,NP_919224.1:p.Gly1213Arg,29/47,\N,Unknown significance,\N,missense_variant,32,0.0000152411,EXAC_NFE_AF,OTOF
428259,2:26696096:C>T,NM_194248.2:c.3637G>A,NP_919224.1:p.Gly1213Ser,29/47,\N,Unknown significance,\N,missense_variant,33,0.0002936,EXAC_AFR_AF,OTOF
428260,2:26696097:G>A,NM_194248.2:c.3636C>T,NP_919224.1:p.Phe1212=,29/47,\N,Unknown significance,\N,synonymous_variant,12.59,0.0000152393,EXAC_NFE_AF,OTOF
428261,2:26696104:C>T,NM_194248.2:c.3629G>A,NP_919224.1:p.Arg1210Gln,29/47,\N,Unknown significance,\N,missense_variant,35,\N,\N,OTOF
428262,2:26696105:G>T,NM_194248.2:c.3628C>A,NP_919224.1:p.Arg1210=,29/47,\N,Likely benign,\N,synonymous_variant,13.49,\N,\N,OTOF
428263,2:26696105:G>A,NM_194248.2:c.3628C>T,NP_919224.1:p.Arg1210Trp,29/47,\N,Unknown significance,\N,missense_variant,33,0.00015586,EXAC_FIN_AF,OTOF
428264,2:26696106:GC>G,NM_194248.2:c.3626del,NP_919224.1:p.Cys1209SerfsTer61,29/47,\N,Unknown significance,\N,frameshift_variant,35,0.000115875,EXAC_EAS_AF,OTOF
428265,2:26696106:G>A,NM_194248.2:c.3627C>T,NP_919224.1:p.Cys1209=,29/47,\N,Unknown significance,\N,synonymous_variant,10.15,0.000115875,EXAC_EAS_AF,OTOF
428266,2:26696109:G>A,NM_194248.2:c.3624C>T,NP_919224.1:p.Asp1208=,29/47,\N,Unknown significance,\N,synonymous_variant,7.901,\N,\N,OTOF
428267,2:26696113:AC>A,NM_194248.2:c.3619del,NP_919224.1:p.Val1207TrpfsTer63,29/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000152281,EXAC_NFE_AF,OTOF
428268,2:26696114:C>T,NM_194248.2:c.3619G>A,NP_919224.1:p.Val1207Met,29/47,\N,Unknown significance,\N,missense_variant,31,0.0000152277,EXAC_NFE_AF,OTOF
428269,2:26696119:C>T,NM_194248.2:c.3614G>A,NP_919224.1:p.Arg1205His,29/47,\N,Unknown significance,\N,missense_variant,28.3,0.0000152249,EXAC_NFE_AF,OTOF
428270,2:26696120:G>A,NM_194248.2:c.3613C>T,NP_919224.1:p.Arg1205Cys,29/47,\N,Unknown significance,\N,missense_variant,27.5,0.000115875,EXAC_EAS_AF,OTOF
428271,2:26696125:T>C,NM_194248.2:c.3608A>G,NP_919224.1:p.Asn1203Ser,29/47,\N,Benign,\N,missense_variant,17.88,0.0560599,EVS_AA_AF,OTOF
428272,2:26696133:C>T,NM_194248.2:c.3600G>A,NP_919224.1:p.Pro1200=,29/47,\N,Unknown significance,\N,synonymous_variant,19.81,0.000116279,EVS_EA_AF,OTOF
428273,2:26696134:G>A,NM_194248.2:c.3599C>T,NP_919224.1:p.Pro1200Leu,29/47,\N,Unknown significance,\N,missense_variant,34,0.0000605914,EXAC_SAS_AF,OTOF
428274,2:26696137:T>G,NM_194248.2:c.3596A>C,NP_919224.1:p.His1199Pro,29/47,\N,Benign,\N,missense_variant,24.5,0.04,OTO_TR_AF,OTOF
428275,2:26696147:C>T,NM_194248.2:c.3586G>A,NP_919224.1:p.Glu1196Lys,29/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
428276,2:26696151:C>G,NM_194248.2:c.3582G>C,NP_919224.1:p.Glu1194Asp,29/47,\N,Unknown significance,\N,missense_variant,26.1,0.0000606061,EXAC_SAS_AF,OTOF
428277,2:26696158:AG>A,NM_194248.2:c.3574del,NP_919224.1:p.Leu1192SerfsTer11,29/47,\N,Unknown significance,\N,frameshift_variant,35,0.000115848,EXAC_EAS_AF,OTOF
428278,2:26696158:A>G,NM_194248.2:c.3575T>C,NP_919224.1:p.Leu1192Pro,29/47,\N,Unknown significance,\N,missense_variant,29.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428279,2:26696161:T>G,NM_194248.2:c.3572A>C,NP_919224.1:p.Asp1191Ala,29/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.5,0.003125,OTO_US_AF,OTOF
428280,2:26696162:C>A,NM_194248.2:c.3571G>T,NP_919224.1:p.Asp1191Tyr,29/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.000260146,EXAC_AMR_AF,OTOF
428281,2:26696164:T>G,NM_194248.2:c.3571-2A>C,\N,\N,28/46,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_acceptor_variant,24.4,\N,\N,OTOF
428282,2:26696168:G>T,NM_194248.2:c.3571-6C>A,\N,\N,28/46,Unknown significance,\N,splice_region_variant&intron_variant,10.41,0.0000867604,EXAC_AMR_AF,OTOF
428283,2:26696169:T>G,NM_194248.2:c.3571-7A>C,\N,\N,28/46,Benign,\N,splice_region_variant&intron_variant,7.045,0.025,OTO_TR_AF,OTOF
428284,2:26696175:C>T,NM_194248.2:c.3571-13G>A,\N,\N,28/46,Unknown significance,\N,intron_variant,1.513,0.000153327,EXAC_FIN_AF,OTOF
428285,2:26696176:G>A,NM_194248.2:c.3571-14C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,7.453,0.0000304294,EXAC_NFE_AF,OTOF
428286,2:26696181:G>T,NM_194248.2:c.3571-19C>A,\N,\N,28/46,Unknown significance,\N,intron_variant,6.53,0.0000304229,EXAC_NFE_AF,OTOF
428287,2:26696184:C>A,NM_194248.2:c.3571-22G>T,\N,\N,28/46,Unknown significance,\N,intron_variant,10.9,0.000153139,EXAC_FIN_AF,OTOF
428288,2:26696185:C>T,NM_194248.2:c.3571-23G>A,\N,\N,28/46,Unknown significance,\N,intron_variant,9.537,0.0000606208,EXAC_SAS_AF,OTOF
428289,2:26696187:G>A,NM_194248.2:c.3571-25C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,9.893,0.0000975991,EXAC_AFR_AF,OTOF
428290,2:26696192:T>A,NM_194248.2:c.3571-30A>T,\N,\N,28/46,Unknown significance,\N,intron_variant,11.27,0.000060584,EXAC_SAS_AF,OTOF
428291,2:26696192:T>TC,NM_194248.2:c.3571-31dup,\N,\N,28/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428292,2:26696200:G>A,NM_194248.2:c.3571-38C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,9.796,\N,\N,OTOF
428293,2:26696209:G>A,NM_194248.2:c.3571-47C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,5.95,0.00018173,EXAC_SAS_AF,OTOF
428294,2:26696209:G>C,NM_194248.2:c.3571-47C>G,\N,\N,28/46,Unknown significance,\N,intron_variant,2.322,0.000115848,EXAC_EAS_AF,OTOF
428295,2:26696212:G>C,NM_194248.2:c.3571-50C>G,\N,\N,28/46,Unknown significance,\N,intron_variant,1.436,0.0000605767,EXAC_SAS_AF,OTOF
428296,2:26696215:G>A,NM_194248.2:c.3571-53C>T,\N,\N,28/46,Benign,\N,intron_variant,0.183,0.0053,1KG_AFR_AF,OTOF
428297,2:26696227:G>A,NM_194248.2:c.3570+47C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,9.928,0.000520021,EXAC_AMR_AF,OTOF
428298,2:26696228:G>A,NM_194248.2:c.3570+46C>T,\N,\N,28/46,Benign,\N,intron_variant,10.47,0.0058,1KG_AMR_AF,OTOF
428299,2:26696252:C>T,NM_194248.2:c.3570+22G>A,\N,\N,28/46,Unknown significance,\N,intron_variant,8.266,0.0000151879,EXAC_NFE_AF,OTOF
428300,2:26696255:C>T,NM_194248.2:c.3570+19G>A,\N,\N,28/46,Unknown significance,\N,intron_variant,0.293,0.0000607607,EXAC_NFE_AF,OTOF
428301,2:26696256:G>A,NM_194248.2:c.3570+18C>T,\N,\N,28/46,Unknown significance,\N,intron_variant,0.115,0.0000151879,EXAC_NFE_AF,OTOF
428302,2:26696267:C>T,NM_194248.2:c.3570+7G>A,\N,\N,28/46,Unknown significance,\N,splice_region_variant&intron_variant,10.28,0.000116306,EVS_EA_AF,OTOF
428303,2:26696272:A>G,NM_194248.2:c.3570+2T>C,\N,\N,28/46,Pathogenic,Auditory neuropathy spectrum disorder,splice_donor_variant,24.7,\N,\N,OTOF
428304,2:26696273:C>A,NM_194248.2:c.3570+1G>T,\N,\N,28/46,Pathogenic,Auditory neuropathy spectrum disorder,splice_donor_variant,27,\N,\N,OTOF
428305,2:26696290:A>T,NM_194248.2:c.3554T>A,NP_919224.1:p.Val1185Asp,28/47,\N,Unknown significance,\N,missense_variant,32,0.000259785,EXAC_AMR_AF,OTOF
428306,2:26696291:C>T,NM_194248.2:c.3553G>A,NP_919224.1:p.Val1185Ile,28/47,\N,Unknown significance,\N,missense_variant,27.3,0.0000151671,EXAC_NFE_AF,OTOF
428307,2:26696292:G>A,NM_194248.2:c.3552C>T,NP_919224.1:p.Leu1184=,28/47,\N,Unknown significance,\N,synonymous_variant,12.79,0.0000969556,EXAC_AFR_AF,OTOF
428308,2:26696294:G>A,NM_194248.2:c.3550C>T,NP_919224.1:p.Leu1184Phe,28/47,\N,Unknown significance,\N,missense_variant,24.2,0.000226963,EVS_AA_AF,OTOF
428309,2:26696294:G>GTT,NM_194248.2:c.3549_3550insAA,NP_919224.1:p.Leu1184AsnfsTer20,28/47,\N,Unknown significance,\N,frameshift_variant,34,0.0000969368,EXAC_AFR_AF,OTOF
428310,2:26696297:T>G,NM_194248.2:c.3547A>C,NP_919224.1:p.Thr1183Pro,28/47,\N,Unknown significance,\N,missense_variant,25.2,0.000121139,EXAC_SAS_AF,OTOF
428311,2:26696309:G>A,NM_194248.2:c.3535C>T,NP_919224.1:p.Pro1179Ser,28/47,\N,Unknown significance,\N,missense_variant,27.2,0.0000865651,EXAC_AMR_AF,OTOF
428312,2:26696311:T>G,NM_194248.2:c.3533A>C,NP_919224.1:p.Asn1178Thr,28/47,\N,Unknown significance,\N,missense_variant,27.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428313,2:26696320:T>C,NM_194248.2:c.3524A>G,NP_919224.1:p.Tyr1175Cys,28/47,\N,Unknown significance,\N,missense_variant,27,0.000116279,EVS_EA_AF,OTOF
428314,2:26696337:C>T,NM_194248.2:c.3507G>A,NP_919224.1:p.Ser1169=,28/47,\N,Likely benign,\N,synonymous_variant,17.66,0.000045489,EXAC_NFE_AF,OTOF
428315,2:26696338:G>A,NM_194248.2:c.3506C>T,NP_919224.1:p.Ser1169Leu,28/47,\N,Unknown significance,\N,missense_variant,34,0.000030326,EXAC_NFE_AF,OTOF
428316,2:26696343:C>T,NM_194248.2:c.3501G>A,NP_919224.1:p.Val1167=,28/47,\N,Unknown significance,\N,synonymous_variant,12.89,0.000226963,EVS_AA_AF,OTOF
428317,2:26696344:AC>A,NM_194248.2:c.3499del,NP_919224.1:p.Val1167CysfsTer5,28/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000151699,EXAC_NFE_AF,OTOF
428318,2:26696344:A>C,NM_194248.2:c.3500T>G,NP_919224.1:p.Val1167Gly,28/47,\N,Benign,\N,missense_variant,26.7,0.02,OTO_TR_AF,OTOF
428319,2:26696345:C>T,NM_194248.2:c.3499G>A,NP_919224.1:p.Val1167Met,28/47,\N,Unknown significance,\N,missense_variant,32,0.0000865202,EXAC_AMR_AF,OTOF
428320,2:26696346:C>A,NM_194248.2:c.3498G>T,NP_919224.1:p.Gly1166=,28/47,\N,Unknown significance,\N,synonymous_variant,20.1,0.0000151685,EXAC_NFE_AF,OTOF
428321,2:26696351:T>TC,NM_194248.2:c.3492dup,NP_919224.1:p.Lys1165GlufsTer12,28/47,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,OTOF
428322,2:26696356:G>T,NM_194248.2:c.3488C>A,NP_919224.1:p.Ala1163Glu,28/47,\N,Unknown significance,\N,missense_variant,31,0.0000151717,EXAC_NFE_AF,OTOF
428323,2:26696363:C>T,NM_194248.2:c.3481G>A,NP_919224.1:p.Glu1161Lys,28/47,\N,Unknown significance,\N,missense_variant,34,0.0000151828,EXAC_NFE_AF,OTOF
428324,2:26696364:G>A,NM_194248.2:c.3480C>T,NP_919224.1:p.Ile1160=,28/47,\N,Likely benign,\N,synonymous_variant,14.36,0.000453926,EVS_AA_AF,OTOF
428325,2:26696371:A>C,NM_004802.3:c.1232T>G,NP_004793.2:p.Val411Gly,11/30,\N,Benign,\N,missense_variant,25.3,0.005,OTO_TR_AF,OTOF
428326,2:26696373:C>A,NM_194248.2:c.3471G>T,NP_919224.1:p.Arg1157=,28/47,\N,Benign,\N,synonymous_variant,18.94,0.0174,1KG_AFR_AF,OTOF
428327,2:26696374:C>T,NM_194248.2:c.3470G>A,NP_919224.1:p.Arg1157Gln,28/47,\N,Benign,\N,missense_variant,26.7,0.01875,OTO_CO_AF,OTOF
428328,2:26696375:G>A,NM_194248.2:c.3469C>T,NP_919224.1:p.Arg1157Trp,28/47,\N,Unknown significance,\N,missense_variant,34,0.000015211,EXAC_NFE_AF,OTOF
428329,2:26696380:C>T,NM_194248.2:c.3464G>A,NP_919224.1:p.Arg1155Gln,28/47,\N,Unknown significance,\N,missense_variant,32,0.00136561,EXAC_SAS_AF,OTOF
428330,2:26696381:G>A,NM_194248.2:c.3463C>T,NP_919224.1:p.Arg1155Trp,28/47,\N,Unknown significance,\N,missense_variant,33,0.0000865651,EXAC_AMR_AF,OTOF
428331,2:26696381:G>T,NM_194248.2:c.3463C>A,NP_919224.1:p.Arg1155=,28/47,\N,Unknown significance,\N,synonymous_variant,13.79,0.0000624532,EXAC_SAS_AF,OTOF
428332,2:26696394:C>T,NM_194248.2:c.3450G>A,NP_919224.1:p.Leu1150=,28/47,\N,Unknown significance,\N,synonymous_variant,14.48,0.0000642674,EXAC_SAS_AF,OTOF
428333,2:26696402:C>T,NM_004802.3:c.1201G>A,NP_004793.2:p.Val401Met,11/30,\N,Unknown significance,\N,missense_variant,28.6,0.0000866101,EXAC_AMR_AF,OTOF
428334,2:26696404:C>T,NM_194248.2:c.3440G>A,NP_919224.1:p.Arg1147Gln,28/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
428335,2:26696405:G>A,NM_194248.2:c.3439C>T,NP_919224.1:p.Arg1147Trp,28/47,\N,Unknown significance,\N,missense_variant,33,0.000116333,EXAC_EAS_AF,OTOF
428336,2:26696420:G>A,NM_194248.2:c.3424C>T,NP_919224.1:p.Leu1142=,28/47,\N,Unknown significance,\N,synonymous_variant,8.828,0.0000994233,EXAC_AFR_AF,OTOF
428337,2:26696424:C>T,NM_194248.2:c.3420G>A,NP_919224.1:p.Trp1140Ter,28/47,\N,Unknown significance,\N,stop_gained,43,\N,\N,OTOF
428338,2:26696431:A>G,NM_194248.2:c.3413T>C,NP_919224.1:p.Leu1138Pro,28/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,27.1,\N,\N,OTOF
428339,2:26696433:C>T,NM_194248.2:c.3411G>A,NP_919224.1:p.Val1137=,28/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.61,0.000074985,EXAC_SAS_AF,OTOF
428340,2:26696435:C>G,NM_194248.2:c.3409G>C,NP_919224.1:p.Val1137Leu,28/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,24,0.000226963,EVS_AA_AF,OTOF
428341,2:26696436:C>G,NM_194248.2:c.3409-1G>C,\N,\N,27/46,Unknown significance,\N,splice_acceptor_variant,25.4,0.001,1KG_EUR_AF,OTOF
428342,2:26696437:T>G,NM_194248.2:c.3409-2A>C,\N,\N,27/46,Pathogenic,Deafness| non-syndromic,splice_acceptor_variant,24.6,0.0000156446,EXAC_NFE_AF,OTOF
428343,2:26696445:G>T,NM_194248.2:c.3409-10C>A,\N,\N,27/46,Unknown significance,\N,intron_variant,11.35,0.000117261,EXAC_EAS_AF,OTOF
428344,2:26696446:T>G,NM_194248.2:c.3409-11A>C,\N,\N,27/46,Unknown significance,\N,intron_variant,8.91,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428345,2:26696448:G>C,NM_194248.2:c.3409-13C>G,\N,\N,27/46,Unknown significance,\N,intron_variant,4.09,0.000116306,EVS_EA_AF,OTOF
428346,2:26696453:G>A,NM_194248.2:c.3409-18C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,0.227,0.000153468,EXAC_FIN_AF,OTOF
428347,2:26696454:T>G,NM_194248.2:c.3409-19A>C,\N,\N,27/46,Unknown significance,\N,intron_variant,1.5,0.0000877347,EXAC_AMR_AF,OTOF
428348,2:26696456:G>A,NM_194248.2:c.3409-21C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,0.109,0.00124069,EXAC_OTH_AF,OTOF
428349,2:26696458:T>G,NM_194248.2:c.3409-23A>C,\N,\N,27/46,Unknown significance,\N,intron_variant,3.803,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428350,2:26696495:A>T,NM_194248.2:c.3409-60T>A,\N,\N,27/46,Unknown significance,\N,intron_variant,1.498,0.0008,1KG_AFR_AF,OTOF
428351,2:26696512:T>A,NM_194248.2:c.3409-77A>T,\N,\N,27/46,Unknown significance,\N,intron_variant,4.205,\N,\N,OTOF
428352,2:26696525:C>T,NM_194248.2:c.3409-90G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,4.862,0.0015,1KG_AFR_AF,OTOF
428353,2:26696536:A>T,NM_194248.2:c.3409-101T>A,\N,\N,27/46,Unknown significance,\N,intron_variant,2.2,0.001,1KG_EUR_AF,OTOF
428354,2:26696583:G>A,NM_194248.2:c.3409-148C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,14.6,\N,\N,OTOF
428355,2:26696604:G>A,NM_194248.2:c.3409-169C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,1.394,0.002,1KG_EAS_AF,OTOF
428356,2:26696618:AG>A,NM_194248.2:c.3409-184del,\N,\N,27/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428357,2:26696663:C>T,NM_194248.2:c.3408+196G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,3.64,\N,\N,OTOF
428358,2:26696699:C>T,NM_194248.2:c.3408+160G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,0.962,\N,\N,OTOF
428359,2:26696700:G>A,NM_194248.2:c.3408+159C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,2.204,\N,\N,OTOF
428360,2:26696714:G>T,NM_194248.2:c.3408+145C>A,\N,\N,27/46,Unknown significance,\N,intron_variant,7.825,\N,\N,OTOF
428361,2:26696717:G>C,NM_194248.2:c.3408+142C>G,\N,\N,27/46,Unknown significance,\N,intron_variant,7.702,0.0023,1KG_AFR_AF,OTOF
428362,2:26696718:G>T,NM_194248.2:c.3408+141C>A,\N,\N,27/46,Unknown significance,\N,intron_variant,10.16,0.0023,1KG_AFR_AF,OTOF
428363,2:26696719:C>G,NM_194248.2:c.3408+140G>C,\N,\N,27/46,Unknown significance,\N,intron_variant,11.21,0.0023,1KG_AFR_AF,OTOF
428364,2:26696720:A>G,NM_194248.2:c.3408+139T>C,\N,\N,27/46,Unknown significance,\N,intron_variant,11.64,0.0023,1KG_AFR_AF,OTOF
428365,2:26696737:A>G,NM_194248.2:c.3408+122T>C,\N,\N,27/46,Unknown significance,\N,intron_variant,6.527,\N,\N,OTOF
428366,2:26696796:C>T,NM_194248.2:c.3408+63G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,7.166,0.002,1KG_EAS_AF,OTOF
428367,2:26696823:C>T,NM_194248.2:c.3408+36G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,6.574,0.0000152994,EXAC_NFE_AF,OTOF
428368,2:26696825:T>A,NM_194248.2:c.3408+34A>T,\N,\N,27/46,Unknown significance,\N,intron_variant,5.4,0.0000305951,EXAC_NFE_AF,OTOF
428369,2:26696832:G>C,NM_194248.2:c.3408+27C>G,\N,\N,27/46,Unknown significance,\N,intron_variant,0.859,0.0000866852,EXAC_AMR_AF,OTOF
428370,2:26696840:C>T,NM_194248.2:c.3408+19G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,4.298,\N,\N,OTOF
428371,2:26696849:G>A,NM_194248.2:c.3408+10C>T,\N,\N,27/46,Unknown significance,\N,intron_variant,4.941,0.0000982511,EXAC_AFR_AF,OTOF
428372,2:26696850:C>T,NM_194248.2:c.3408+9G>A,\N,\N,27/46,Unknown significance,\N,intron_variant,6.351,\N,\N,OTOF
428373,2:26696851:C>G,NM_194248.2:c.3408+8G>C,\N,\N,27/46,Unknown significance,\N,splice_region_variant&intron_variant,0.718,0.000015269,EXAC_NFE_AF,OTOF
428374,2:26696851:C>T,NM_194248.2:c.3408+8G>A,\N,\N,27/46,Unknown significance,\N,splice_region_variant&intron_variant,2.731,0.00017334,EXAC_AMR_AF,OTOF
428375,2:26696854:C>T,NM_194248.2:c.3408+5G>A,\N,\N,27/46,Unknown significance,\N,splice_region_variant&intron_variant,9.23,0.0000152662,EXAC_NFE_AF,OTOF
428376,2:26696855:G>A,NM_194248.2:c.3408+4C>T,\N,\N,27/46,Unknown significance,\N,splice_region_variant&intron_variant,0.588,0.0000305269,EXAC_NFE_AF,OTOF
428377,2:26696856:C>T,NM_194248.2:c.3408+3G>A,\N,\N,27/46,Unknown significance,\N,splice_region_variant&intron_variant,6.21,0.000015263,EXAC_NFE_AF,OTOF
428378,2:26696857:A>C,NM_194248.2:c.3408+2T>G,\N,\N,27/46,Unknown significance,\N,splice_donor_variant,22.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428379,2:26696864:C>T,NM_194248.2:c.3403G>A,NP_919224.1:p.Val1135Met,27/47,\N,Likely benign,\N,missense_variant,21.7,0.000116333,EVS_EA_AF,OTOF
428380,2:26696865:T>G,NM_194248.2:c.3402A>C,NP_919224.1:p.Arg1134=,27/47,\N,Unknown significance,\N,synonymous_variant,5.299,0.0000152532,EXAC_NFE_AF,OTOF
428381,2:26696866:C>T,NM_194248.2:c.3401G>A,NP_919224.1:p.Arg1134Gln,27/47,\N,Unknown significance,\N,missense_variant,33,0.0000305083,EXAC_NFE_AF,OTOF
428382,2:26696867:G>A,NM_194248.2:c.3400C>T,NP_919224.1:p.Arg1134Ter,27/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,38,\N,\N,OTOF
428383,2:26696871:C>G,NM_194248.2:c.3396G>C,NP_919224.1:p.Lys1132Asn,27/47,\N,Unknown significance,\N,missense_variant,23.8,0.0000152448,EXAC_NFE_AF,OTOF
428384,2:26696882:C>T,NM_194248.2:c.3385G>A,NP_919224.1:p.Val1129Met,27/47,\N,Unknown significance,\N,missense_variant,24.8,0.00295052,EVS_AA_AF,OTOF
428385,2:26696883:G>A,NM_194248.2:c.3384C>T,NP_919224.1:p.Pro1128=,27/47,\N,Unknown significance,\N,synonymous_variant,11.97,0.00363141,EVS_AA_AF,OTOF
428386,2:26696885:G>A,NM_194248.2:c.3382C>T,NP_919224.1:p.Pro1128Ser,27/47,\N,Unknown significance,\N,missense_variant,27.9,0.000116333,EVS_EA_AF,OTOF
428387,2:26696886:C>G,NM_194248.2:c.3381G>C,NP_919224.1:p.Arg1127=,27/47,\N,Unknown significance,\N,synonymous_variant,11.47,0.0000605767,EXAC_SAS_AF,OTOF
428388,2:26696897:T>G,NM_194248.2:c.3370A>C,NP_919224.1:p.Met1124Leu,27/47,\N,Likely benign,\N,missense_variant,9.246,0.001,1KG_SAS_AF,OTOF
428389,2:26696901:C>A,NM_194248.2:c.3366G>T,NP_919224.1:p.Val1122=,27/47,\N,Unknown significance,\N,synonymous_variant,13.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428390,2:26696904:G>A,NM_194248.2:c.3363C>T,NP_919224.1:p.Pro1121=,27/47,\N,Unknown significance,\N,synonymous_variant,13.6,0.0000304925,EXAC_NFE_AF,OTOF
428391,2:26696904:G>T,NM_194248.2:c.3363C>A,NP_919224.1:p.Pro1121=,27/47,\N,Unknown significance,\N,synonymous_variant,10.95,0.00112108,EXAC_OTH_AF,OTOF
428392,2:26696905:G>A,NM_194248.2:c.3362C>T,NP_919224.1:p.Pro1121Leu,27/47,\N,Unknown significance,\N,missense_variant,25.8,0.000121153,EXAC_SAS_AF,OTOF
428393,2:26696912:T>C,NM_194322.2:c.1285A>G,NP_919303.1:p.Ile429Val,9/29,\N,Unknown significance,\N,missense_variant,20.7,0.0000152439,EXAC_NFE_AF,OTOF
428394,2:26696915:G>C,NM_194248.2:c.3352C>G,NP_919224.1:p.Pro1118Ala,27/47,\N,Unknown significance,\N,missense_variant,23.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428395,2:26696916:A>C,NM_194248.2:c.3351T>G,NP_919224.1:p.Gly1117=,27/47,\N,Unknown significance,\N,synonymous_variant,1.879,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428396,2:26696919:T>C,NM_194248.2:c.3348A>G,NP_919224.1:p.Arg1116=,27/47,\N,Unknown significance,\N,synonymous_variant,4.115,\N,\N,OTOF
428397,2:26696928:G>A,NM_194248.2:c.3339C>T,NP_919224.1:p.Asp1113=,27/47,\N,Unknown significance,\N,synonymous_variant,8.781,0.0000152555,EXAC_NFE_AF,OTOF
428398,2:26696930:C>T,NM_194248.2:c.3337G>A,NP_919224.1:p.Asp1113Asn,27/47,\N,Unknown significance,\N,missense_variant,24.6,0.0000305139,EXAC_NFE_AF,OTOF
428399,2:26696934:C>T,NM_194248.2:c.3333G>A,NP_919224.1:p.Pro1111=,27/47,\N,Unknown significance,\N,synonymous_variant,8.341,0.0014,1KG_AMR_AF,OTOF
428400,2:26696935:G>A,NM_194248.2:c.3332C>T,NP_919224.1:p.Pro1111Leu,27/47,\N,Unknown significance,\N,missense_variant,23.6,0.00136178,EVS_AA_AF,OTOF
428401,2:26696935:G>T,NM_194248.2:c.3332C>A,NP_919224.1:p.Pro1111Gln,27/47,\N,Unknown significance,\N,missense_variant,26,0.000060584,EXAC_SAS_AF,OTOF
428402,2:26696945:T>TG,NM_194248.2:c.3321dup,NP_919224.1:p.Ile1108HisfsTer69,27/47,\N,Unknown significance,\N,frameshift_variant,\N,0.0000152653,EXAC_NFE_AF,OTOF
428403,2:26696945:TG>T,NM_194248.2:c.3321del,NP_919224.1:p.Ile1108SerfsTer38,27/47,\N,Unknown significance,\N,frameshift_variant,23.6,0.0000152653,EXAC_NFE_AF,OTOF
428404,2:26696946:G>A,NM_194248.2:c.3321C>T,NP_919224.1:p.Pro1107=,27/47,\N,Unknown significance,\N,synonymous_variant,0.191,0.0015,1KG_AFR_AF,OTOF
428405,2:26696947:G>A,NM_194248.2:c.3320C>T,NP_919224.1:p.Pro1107Leu,27/47,\N,Unknown significance,\N,missense_variant,24.5,0.0000867754,EXAC_AMR_AF,OTOF
428406,2:26696951:G>T,NM_194248.2:c.3316C>A,NP_919224.1:p.Pro1106Thr,27/47,\N,Unknown significance,\N,missense_variant,23.1,\N,\N,OTOF
428407,2:26696952:C>A,NM_194248.2:c.3315G>T,NP_919224.1:p.Leu1105=,27/47,\N,Unknown significance,\N,synonymous_variant,8.632,0.000116279,EVS_EA_AF,OTOF
428408,2:26696959:G>A,NM_194248.2:c.3308C>T,NP_919224.1:p.Ala1103Val,27/47,\N,Unknown significance,\N,missense_variant,14.84,0.0000458309,EXAC_NFE_AF,OTOF
428409,2:26696964:C>T,NM_194248.2:c.3303G>A,NP_919224.1:p.Gly1101=,27/47,\N,Likely benign,\N,synonymous_variant,8.615,\N,\N,OTOF
428410,2:26696964:C>G,NM_194248.2:c.3303G>C,NP_919224.1:p.Gly1101=,27/47,\N,Unknown significance,\N,synonymous_variant,5.607,0.0000868357,EXAC_AMR_AF,OTOF
428411,2:26696966:C>T,NM_194248.2:c.3301G>A,NP_919224.1:p.Gly1101Arg,27/47,\N,Unknown significance,\N,missense_variant,29,0.0000305661,EXAC_NFE_AF,OTOF
428412,2:26696970:T>G,NM_194248.2:c.3297A>C,NP_919224.1:p.Pro1099=,27/47,\N,Unknown significance,\N,synonymous_variant,1.084,0.0000152971,EXAC_NFE_AF,OTOF
428413,2:26696977:A>G,NM_004802.3:c.1049T>C,NP_004793.2:p.Ile350Thr,10/30,\N,Unknown significance,\N,missense_variant&splice_region_variant,19.51,0.0000868508,EXAC_AMR_AF,OTOF
428414,2:26696977:A>T,NM_194248.2:c.3290T>A,NP_919224.1:p.Ile1097Asn,27/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.3,0.0000153046,EXAC_NFE_AF,OTOF
428415,2:26696979:C>G,NM_194248.2:c.3289-1G>C,\N,\N,26/46,Unknown significance,\N,splice_acceptor_variant,25.7,0.0000306166,EXAC_NFE_AF,OTOF
428416,2:26696984:G>A,NM_194248.2:c.3289-6C>T,\N,\N,26/46,Unknown significance,\N,splice_region_variant&intron_variant,10.16,0.0000606502,EXAC_SAS_AF,OTOF
428417,2:26696987:T>G,NM_194248.2:c.3289-9A>C,\N,\N,26/46,Unknown significance,\N,intron_variant,13.12,0.000116306,EXAC_EAS_AF,OTOF
428418,2:26696991:G>A,NM_194248.2:c.3289-13C>T,\N,\N,26/46,Unknown significance,\N,intron_variant,15.4,0.0000920387,EXAC_NFE_AF,OTOF
428419,2:26696992:G>A,NM_194248.2:c.3289-14C>T,\N,\N,26/46,Unknown significance,\N,intron_variant,14.62,0.000116306,EXAC_EAS_AF,OTOF
428420,2:26696999:G>A,NM_194248.2:c.3289-21C>T,\N,\N,26/46,Unknown significance,\N,intron_variant,12.39,0.000348918,EXAC_EAS_AF,OTOF
428421,2:26697003:C>T,NM_194248.2:c.3289-25G>A,\N,\N,26/46,Unknown significance,\N,intron_variant,9.431,0.000121418,EXAC_SAS_AF,OTOF
428422,2:26697005:C>A,NM_194248.2:c.3289-27G>T,\N,\N,26/46,Unknown significance,\N,intron_variant,2.818,0.0000870019,EXAC_AMR_AF,OTOF
428423,2:26697007:C>A,NM_194248.2:c.3289-29G>T,\N,\N,26/46,Unknown significance,\N,intron_variant,6.48,0.0000607312,EXAC_SAS_AF,OTOF
428424,2:26697007:C>T,NM_194248.2:c.3289-29G>A,\N,\N,26/46,Unknown significance,\N,intron_variant,6.3,0.0000607312,EXAC_SAS_AF,OTOF
428425,2:26697016:C>T,NM_194248.2:c.3289-38G>A,\N,\N,26/46,Unknown significance,\N,intron_variant,4.931,0.000100241,EXAC_AFR_AF,OTOF
428426,2:26697023:C>A,NM_194248.2:c.3289-45G>T,\N,\N,26/46,Unknown significance,\N,intron_variant,2.723,0.001,1KG_EAS_AF,OTOF
428427,2:26697023:C>T,NM_194248.2:c.3289-45G>A,\N,\N,26/46,Benign,\N,intron_variant,2.652,0.0325,OTO_AJ_AF,OTOF
428428,2:26697034:T>G,NM_194248.2:c.3289-56A>C,\N,\N,26/46,Unknown significance,\N,intron_variant,7.05,0.002,1KG_EAS_AF,OTOF
428429,2:26697063:G>T,NM_194248.2:c.3289-85C>A,\N,\N,26/46,Benign,\N,intron_variant,6.674,0.0885,1KG_AFR_AF,OTOF
428430,2:26697089:C>T,NM_194248.2:c.3289-111G>A,\N,\N,26/46,Unknown significance,\N,intron_variant,2.689,0.0008,1KG_AFR_AF,OTOF
428431,2:26697111:G>A,NM_194248.2:c.3289-133C>T,\N,\N,26/46,Unknown significance,\N,intron_variant,4.523,0.0008,1KG_AFR_AF,OTOF
428432,2:26697139:C>G,NM_194248.2:c.3289-161G>C,\N,\N,26/46,Unknown significance,\N,intron_variant,7.781,\N,\N,OTOF
428433,2:26697246:C>A,NM_194248.2:c.3288+135G>T,\N,\N,26/46,Unknown significance,\N,intron_variant,7.557,\N,\N,OTOF
428434,2:26697283:A>C,NM_194248.2:c.3288+98T>G,\N,\N,26/46,Unknown significance,\N,intron_variant,0.07,0.0014,1KG_AMR_AF,OTOF
428435,2:26697290:G>C,NM_194248.2:c.3288+91C>G,\N,\N,26/46,Benign,\N,intron_variant,0.2,0.0076,1KG_AFR_AF,OTOF
428436,2:26697353:C>A,NM_194248.2:c.3288+28G>T,\N,\N,26/46,Unknown significance,\N,intron_variant,3.083,0.000561527,EXAC_NFE_AF,OTOF
428437,2:26697358:GC>G,NM_194248.2:c.3288+22del,\N,\N,26/46,Unknown significance,\N,intron_variant,3.269,0.004,EXAC_OTH_AF,OTOF
428438,2:26697364:C>G,NM_194248.2:c.3288+17G>C,\N,\N,26/46,Unknown significance,\N,intron_variant,3.517,0.000644745,EXAC_AFR_AF,OTOF
428439,2:26697364:C>T,NM_194248.2:c.3288+17G>A,\N,\N,26/46,Unknown significance,\N,intron_variant,4.562,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,OTOF
428440,2:26697390:C>T,NM_194248.2:c.3279G>A,NP_919224.1:p.Glu1093=,26/47,\N,Unknown significance,\N,synonymous_variant,12.13,0.000186498,EXAC_AFR_AF,OTOF
428441,2:26697393:G>A,NM_194248.2:c.3276C>T,NP_919224.1:p.Phe1092=,26/47,\N,Unknown significance,\N,synonymous_variant,12.12,0.000166667,EXAC_AFR_AF,OTOF
428442,2:26697399:C>T,NM_194248.2:c.3270G>A,NP_919224.1:p.Ala1090=,26/47,\N,Unknown significance,\N,synonymous_variant,17.72,\N,\N,OTOF
428443,2:26697400:G>T,NM_194248.2:c.3269C>A,NP_919224.1:p.Ala1090Glu,26/47,\N,Pathogenic,Deafness| autosomal recessive 9,missense_variant,33,\N,\N,OTOF
428444,2:26697400:G>A,NM_194248.2:c.3269C>T,NP_919224.1:p.Ala1090Val,26/47,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_SAS_AF,OTOF
428445,2:26697404:G>T,NM_194248.2:c.3265C>A,NP_919224.1:p.Leu1089Met,26/47,\N,Unknown significance,\N,missense_variant,26.1,0.001,1KG_EAS_AF,OTOF
428446,2:26697406:A>G,NM_194248.2:c.3263T>C,NP_919224.1:p.Leu1088Pro,26/47,\N,Pathogenic,Hearing loss| non-syndromic,missense_variant,29.9,\N,\N,OTOF
428447,2:26697407:G>T,NM_194323.2:c.1021C>A,NP_919304.1:p.Leu341Met,9/29,\N,Unknown significance,\N,missense_variant,22.8,0.000208565,EXAC_SAS_AF,OTOF
428448,2:26697422:C>G,NM_194248.2:c.3247G>C,NP_919224.1:p.Ala1083Pro,26/47,\N,Benign,\N,missense_variant,22.6,0.0265762,EXAC_FIN_AF,OTOF
428449,2:26697422:C>A,NM_194248.2:c.3247G>T,NP_919224.1:p.Ala1083Ser,26/47,\N,Likely benign,\N,missense_variant,17.57,0.0000163634,EXAC_NFE_AF,OTOF
428450,2:26697422:C>T,NM_194248.2:c.3247G>A,NP_919224.1:p.Ala1083Thr,26/47,\N,Likely benign,\N,missense_variant,21.6,0.00012216,EXAC_EAS_AF,OTOF
428451,2:26697423:G>A,NM_194248.2:c.3246C>T,NP_919224.1:p.Asn1082=,26/47,\N,Unknown significance,\N,synonymous_variant,9.844,0.0000162364,EXAC_NFE_AF,OTOF
428452,2:26697424:T>C,NM_194248.2:c.3245A>G,NP_919224.1:p.Asn1082Ser,26/47,\N,Likely benign,\N,missense_variant,6.882,0.000120279,EXAC_EAS_AF,OTOF
428453,2:26697430:C>G,NM_194248.2:c.3239G>C,NP_919224.1:p.Arg1080Pro,26/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,32,\N,\N,OTOF
428454,2:26697430:C>T,NM_194248.2:c.3239G>A,NP_919224.1:p.Arg1080His,26/47,\N,Unknown significance,\N,missense_variant,32,0.000590598,EXAC_EAS_AF,OTOF
428455,2:26697431:G>A,NM_194248.2:c.3238C>T,NP_919224.1:p.Arg1080Cys,26/47,\N,Unknown significance,\N,missense_variant,27.9,0.000227066,EVS_AA_AF,OTOF
428456,2:26697439:T>C,NM_194248.2:c.3230A>G,NP_919224.1:p.Gln1077Arg,26/47,\N,Unknown significance,\N,missense_variant,26.8,0.0000155183,EXAC_NFE_AF,OTOF
428457,2:26697443:A>G,NM_194248.2:c.3226T>C,NP_919224.1:p.Tyr1076His,26/47,\N,Unknown significance,\N,missense_variant,17.92,0.000245761,EXAC_SAS_AF,OTOF
428458,2:26697445:T>C,NM_194248.2:c.3224A>G,NP_919224.1:p.Tyr1075Cys,26/47,\N,Unknown significance,\N,missense_variant,27,0.000116604,EXAC_EAS_AF,OTOF
428459,2:26697447:C>T,NM_194248.2:c.3222G>A,NP_919224.1:p.Glu1074=,26/47,\N,Unknown significance,\N,synonymous_variant,14,0.0000154017,EXAC_NFE_AF,OTOF
428460,2:26697449:C>T,NM_194248.2:c.3220G>A,NP_919224.1:p.Glu1074Lys,26/47,\N,Unknown significance,\N,missense_variant,28.7,0.000122249,EXAC_SAS_AF,OTOF
428461,2:26697457:G>A,NM_194248.2:c.3212C>T,NP_919224.1:p.Pro1071Leu,26/47,\N,Unknown significance,\N,missense_variant,29.2,0.0000608569,EXAC_SAS_AF,OTOF
428462,2:26697458:G>A,NM_194248.2:c.3211C>T,NP_919224.1:p.Pro1071Ser,26/47,\N,Unknown significance,\N,missense_variant,25.1,0.0000608495,EXAC_SAS_AF,OTOF
428463,2:26697459:T>G,NM_194248.2:c.3210A>C,NP_919224.1:p.Pro1070=,26/47,\N,Unknown significance,\N,synonymous_variant,8.118,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428464,2:26697462:G>A,NM_194248.2:c.3207C>T,NP_919224.1:p.Phe1069=,26/47,\N,Unknown significance,\N,synonymous_variant,11.33,0.000115955,EXAC_EAS_AF,OTOF
428465,2:26697466:C>T,NM_194248.2:c.3203G>A,NP_919224.1:p.Arg1068His,26/47,\N,Unknown significance,\N,missense_variant,32,0.0038,1KG_AFR_AF,OTOF
428466,2:26697469:G>T,NM_194248.2:c.3200C>A,NP_919224.1:p.Pro1067His,26/47,\N,Unknown significance,\N,missense_variant,28.9,0.000182127,EXAC_SAS_AF,OTOF
428467,2:26697471:T>G,NM_194248.2:c.3198A>C,NP_919224.1:p.Pro1066=,26/47,\N,Benign,\N,synonymous_variant,7.295,0.01,OTO_TR_AF,OTOF
428468,2:26697477:G>C,NM_194248.2:c.3192C>G,NP_919224.1:p.Tyr1064Ter,26/47,\N,Pathogenic,Auditory neuropathy spectrum disorder; Hearing loss| non-syndromic,stop_gained,38,0.000115982,EXAC_EAS_AF,OTOF
428469,2:26697480:C>T,NM_194248.2:c.3189G>A,NP_919224.1:p.Ala1063=,26/47,\N,Benign,\N,synonymous_variant,19.96,0.0232612,EVS_EA_AF,OTOF
428470,2:26697481:G>A,NM_194248.2:c.3188C>T,NP_919224.1:p.Ala1063Val,26/47,\N,Likely benign,\N,missense_variant,17.62,\N,\N,OTOF
428471,2:26697482:C>T,NM_194248.2:c.3187G>A,NP_919224.1:p.Ala1063Thr,26/47,\N,Likely benign,\N,missense_variant,18.22,0.000226963,EVS_AA_AF,OTOF
428472,2:26697485:C>CGTCTG,NM_194248.2:c.3179_3183dup,NP_919224.1:p.Glu1062GlnfsTer86,26/47,\N,Unknown significance,\N,frameshift_variant,35,0.000115955,EXAC_EAS_AF,OTOF
428473,2:26697485:C>T,NM_194248.2:c.3184G>A,NP_919224.1:p.Glu1062Lys,26/47,\N,Unknown significance,\N,missense_variant,33,0.000015236,EXAC_NFE_AF,OTOF
428474,2:26697486:G>A,NM_194248.2:c.3183C>T,NP_919224.1:p.Asp1061=,26/47,\N,Unknown significance,\N,synonymous_variant,9.053,0.000152207,EXAC_FIN_AF,OTOF
428475,2:26697490:GC>G,NM_194248.2:c.3178del,NP_919224.1:p.Ala1060GlnfsTer86,26/47,\N,Pathogenic,Deafness| autosomal recessive 9,frameshift_variant,35,\N,\N,OTOF
428476,2:26697495:C>T,NM_194248.2:c.3174G>A,NP_919224.1:p.Lys1058=,26/47,\N,Unknown significance,\N,synonymous_variant,14.76,0.001,1KG_EUR_AF,OTOF
428477,2:26697507:T>G,NM_194248.2:c.3162A>C,NP_919224.1:p.Lys1054Asn,26/47,\N,Unknown significance,\N,missense_variant,23.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428478,2:26697512:C>T,NM_194248.2:c.3157G>A,NP_919224.1:p.Ala1053Thr,26/47,\N,Unknown significance,\N,missense_variant,24,0.0008,1KG_AFR_AF,OTOF
428479,2:26697513:G>A,NM_194248.2:c.3156C>T,NP_919224.1:p.Phe1052=,26/47,\N,Likely benign,\N,synonymous_variant,13.51,0.000015204,EXAC_NFE_AF,OTOF
428480,2:26697518:T>G,NM_194248.2:c.3151A>C,NP_919224.1:p.Thr1051Pro,26/47,\N,Unknown significance,\N,missense_variant,27,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428481,2:26697520:C>T,NM_194248.2:c.3149G>A,NP_919224.1:p.Arg1050Gln,26/47,\N,Unknown significance,\N,missense_variant,29,0.000116279,EVS_EA_AF,OTOF
428482,2:26697521:G>A,NM_194248.2:c.3148C>T,NP_919224.1:p.Arg1050Trp,26/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
428483,2:26697527:T>C,NM_194248.2:c.3142A>G,NP_919224.1:p.Met1048Val,26/47,\N,Unknown significance,\N,missense_variant,18.46,0.001,1KG_SAS_AF,OTOF
428484,2:26697528:G>T,NM_194248.2:c.3141C>A,NP_919224.1:p.Phe1047Leu,26/47,\N,Unknown significance,\N,missense_variant,32,\N,\N,OTOF
428485,2:26697533:C>T,NM_194248.2:c.3136G>A,NP_919224.1:p.Asp1046Asn,26/47,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_EAS_AF,OTOF
428486,2:26697547:C>T,NM_194248.2:c.3127-5G>A,\N,\N,25/46,Benign,\N,splice_region_variant&intron_variant,14.64,0.0133,1KG_SAS_AF,OTOF
428487,2:26697548:G>A,NM_194248.2:c.3127-6C>T,\N,\N,25/46,Unknown significance,\N,splice_region_variant&intron_variant,4.391,0.000115929,EXAC_EAS_AF,OTOF
428488,2:26697548:G>T,NM_194248.2:c.3127-6C>A,\N,\N,25/46,Unknown significance,\N,splice_region_variant&intron_variant,2.31,0.000015198,EXAC_NFE_AF,OTOF
428489,2:26697556:C>A,NM_194248.2:c.3127-14G>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.483,\N,\N,OTOF
428490,2:26697563:G>A,NM_194248.2:c.3127-21C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.507,0.0000152045,EXAC_NFE_AF,OTOF
428491,2:26697568:C>CT,NM_194248.2:c.3127-27dup,\N,\N,25/46,Unknown significance,\N,intron_variant,4.769,0.00017334,EXAC_AMR_AF,OTOF
428492,2:26697568:C>G,NM_194248.2:c.3127-26G>C,\N,\N,25/46,Unknown significance,\N,intron_variant,3.018,0.000226963,EVS_AA_AF,OTOF
428493,2:26697570:C>T,NM_194248.2:c.3127-28G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,2.865,0.0000304155,EXAC_NFE_AF,OTOF
428494,2:26697582:T>C,NM_194248.2:c.3127-40A>G,\N,\N,25/46,Unknown significance,\N,intron_variant,0.848,0.0000152142,EXAC_NFE_AF,OTOF
428495,2:26697590:C>A,NM_194248.2:c.3127-48G>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.025,0.0000456732,EXAC_NFE_AF,OTOF
428496,2:26697601:G>A,NM_194248.2:c.3127-59C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,2.429,0.003,1KG_EAS_AF,OTOF
428497,2:26697653:C>A,NM_194248.2:c.3127-111G>T,\N,\N,25/46,Benign,\N,intron_variant,6.646,0.0061,1KG_SAS_AF,OTOF
428498,2:26697672:A>G,NM_194248.2:c.3127-130T>C,\N,\N,25/46,Unknown significance,\N,intron_variant,8.206,\N,\N,OTOF
428499,2:26697711:C>G,NM_194248.2:c.3127-169G>C,\N,\N,25/46,Unknown significance,\N,intron_variant,6.716,0.001,1KG_EAS_AF,OTOF
428500,2:26697742:C>G,NM_194248.2:c.3127-200G>C,\N,\N,25/46,Unknown significance,\N,intron_variant,5.474,0.001,1KG_EAS_AF,OTOF
428501,2:26697809:G>T,NM_194248.2:c.3127-267C>A,\N,\N,25/46,Unknown significance,\N,intron_variant,1.168,\N,\N,OTOF
428502,2:26697827:C>T,NM_194248.2:c.3127-285G>A,\N,\N,25/46,Benign,\N,intron_variant,5.508,0.128,1KG_EAS_AF,OTOF
428503,2:26697837:C>T,NM_194248.2:c.3127-295G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,2.272,\N,\N,OTOF
428504,2:26697840:G>A,NM_194248.2:c.3127-298C>T,\N,\N,25/46,Benign,\N,intron_variant,3.222,0.0083,1KG_AFR_AF,OTOF
428505,2:26697880:C>T,NM_194248.2:c.3127-338G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,1.443,\N,\N,OTOF
428506,2:26697903:G>C,NM_194248.2:c.3126+324C>G,\N,\N,25/46,Unknown significance,\N,intron_variant,1.14,\N,\N,OTOF
428507,2:26697924:G>T,NM_194248.2:c.3126+303C>A,\N,\N,25/46,Unknown significance,\N,intron_variant,0.783,\N,\N,OTOF
428508,2:26697925:G>A,NM_194248.2:c.3126+302C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,4.233,\N,\N,OTOF
428509,2:26697925:G>T,NM_194248.2:c.3126+302C>A,\N,\N,25/46,Benign,\N,intron_variant,1.975,0.0159,1KG_EUR_AF,OTOF
428510,2:26697928:C>T,NM_194248.2:c.3126+299G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,0.958,\N,\N,OTOF
428511,2:26697950:G>A,NM_194248.2:c.3126+277C>T,\N,\N,25/46,Benign,\N,intron_variant,6.401,0.9792,1KG_EAS_AF,OTOF
428512,2:26697962:A>G,NM_194248.2:c.3126+265T>C,\N,\N,25/46,Unknown significance,\N,intron_variant,6.012,0.002,1KG_EAS_AF,OTOF
428513,2:26697990:A>G,NM_194248.2:c.3126+237T>C,\N,\N,25/46,Unknown significance,\N,intron_variant,0.35,\N,\N,OTOF
428514,2:26698013:G>A,NM_194248.2:c.3126+214C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,4.926,0.0041,1KG_SAS_AF,OTOF
428515,2:26698019:G>C,NM_194248.2:c.3126+208C>G,\N,\N,25/46,Benign,\N,intron_variant,1.349,0.9802,1KG_EAS_AF,OTOF
428516,2:26698020:C>T,NM_194248.2:c.3126+207G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,6.069,0.002,1KG_EAS_AF,OTOF
428517,2:26698045:C>T,NM_194248.2:c.3126+182G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,4.488,0.0023,1KG_AFR_AF,OTOF
428518,2:26698065:T>C,NM_194248.2:c.3126+162A>G,\N,\N,25/46,Benign,\N,intron_variant,4.266,0.0159,1KG_EUR_AF,OTOF
428519,2:26698099:G>A,NM_194248.2:c.3126+128C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.884,0.003,1KG_EUR_AF,OTOF
428520,2:26698117:C>T,NM_194248.2:c.3126+110G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,6.407,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
428521,2:26698122:G>A,NM_194248.2:c.3126+105C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,4.439,\N,\N,OTOF
428522,2:26698130:G>A,NM_194248.2:c.3126+97C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.981,0.001,1KG_EUR_AF,OTOF
428523,2:26698184:G>A,NM_194248.2:c.3126+43C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,7.346,0.0000605914,EXAC_SAS_AF,OTOF
428524,2:26698189:G>A,NM_194248.2:c.3126+38C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,5.211,0.0008,1KG_AFR_AF,OTOF
428525,2:26698192:C>T,NM_194248.2:c.3126+35G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,7.475,0.000116279,EVS_EA_AF,OTOF
428526,2:26698194:G>A,NM_194248.2:c.3126+33C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,6.302,0.00001523,EXAC_NFE_AF,OTOF
428527,2:26698200:G>C,NM_194248.2:c.3126+27C>G,\N,\N,25/46,Unknown significance,\N,intron_variant,3.475,0.0000605914,EXAC_SAS_AF,OTOF
428528,2:26698203:C>T,NM_194248.2:c.3126+24G>A,\N,\N,25/46,Unknown significance,\N,intron_variant,6.844,0.0000152253,EXAC_NFE_AF,OTOF
428529,2:26698213:G>C,NM_194248.2:c.3126+14C>G,\N,\N,25/46,Unknown significance,\N,intron_variant,11.75,0.0000866251,EXAC_AMR_AF,OTOF
428530,2:26698215:G>A,NM_194248.2:c.3126+12C>T,\N,\N,25/46,Unknown significance,\N,intron_variant,13.93,0.0014,1KG_AMR_AF,OTOF
428531,2:26698225:A>G,NM_194248.2:c.3126+2T>C,\N,\N,25/46,Unknown significance,\N,splice_donor_variant,24.5,\N,\N,OTOF
428532,2:26698229:T>C,NM_194248.2:c.3124A>G,NP_919224.1:p.Met1042Val,25/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,0.924,0.0000972573,EXAC_AFR_AF,OTOF
428533,2:26698231:G>A,NM_194248.2:c.3122C>T,NP_919224.1:p.Ser1041Phe,25/47,\N,Unknown significance,\N,missense_variant,25,\N,\N,OTOF
428534,2:26698240:T>C,NM_194248.2:c.3113A>G,NP_919224.1:p.Asp1038Gly,25/47,\N,Unknown significance,\N,missense_variant,24.3,0.0000455955,EXAC_NFE_AF,OTOF
428535,2:26698252:A>G,NM_004802.3:c.860T>C,NP_004793.2:p.Ile287Thr,8/30,\N,Unknown significance,\N,missense_variant,26.8,0.00034626,EXAC_AMR_AF,OTOF
428536,2:26698262:T>C,NM_194248.2:c.3091A>G,NP_919224.1:p.Ile1031Val,25/47,\N,Unknown significance,\N,missense_variant,22.8,0.000116279,EVS_EA_AF,OTOF
428537,2:26698266:C>G,NM_194248.2:c.3087G>C,NP_919224.1:p.Pro1029=,25/47,\N,Unknown significance,\N,synonymous_variant,9.814,0.0000605767,EXAC_SAS_AF,OTOF
428538,2:26698266:C>T,NM_194248.2:c.3087G>A,NP_919224.1:p.Pro1029=,25/47,\N,Unknown significance,\N,synonymous_variant,13.14,0.000115848,EXAC_EAS_AF,OTOF
428539,2:26698267:G>A,NM_194248.2:c.3086C>T,NP_919224.1:p.Pro1029Leu,25/47,\N,Unknown significance,\N,missense_variant,29.5,0.0000303739,EXAC_NFE_AF,OTOF
428540,2:26698269:A>G,NM_194248.2:c.3084T>C,NP_919224.1:p.Asp1028=,25/47,\N,Unknown significance,\N,synonymous_variant,0.313,0.000015186,EXAC_NFE_AF,OTOF
428541,2:26698272:G>A,NM_194248.2:c.3081C>T,NP_919224.1:p.Asp1027=,25/47,\N,Unknown significance,\N,synonymous_variant,5.572,0.0008,1KG_AFR_AF,OTOF
428542,2:26698273:T>C,NM_194248.2:c.3080A>G,NP_919224.1:p.Asp1027Gly,25/47,\N,Unknown significance,\N,missense_variant,19.13,0.000302883,EXAC_SAS_AF,OTOF
428543,2:26698277:T>A,NM_194248.2:c.3076A>T,NP_919224.1:p.Arg1026Trp,25/47,\N,Benign,\N,missense_variant,24.9,0.0197,1KG_AFR_AF,OTOF
428544,2:26698297:T>C,NM_194248.2:c.3056A>G,NP_919224.1:p.Tyr1019Cys,25/47,\N,Unknown significance,\N,missense_variant,24.5,0.0000865951,EXAC_AMR_AF,OTOF
428545,2:26698307:G>C,NM_194248.2:c.3046C>G,NP_919224.1:p.Leu1016Val,25/47,\N,Unknown significance,\N,missense_variant,8.711,0.000121153,EXAC_SAS_AF,OTOF
428546,2:26698313:C>T,NM_194248.2:c.3040G>A,NP_919224.1:p.Asp1014Asn,25/47,\N,Likely benign,\N,missense_variant,22.2,0.000302572,EXAC_FIN_AF,OTOF
428547,2:26698314:G>A,NM_194248.2:c.3039C>T,NP_919224.1:p.Phe1013=,25/47,\N,Unknown significance,\N,synonymous_variant,13.07,0.0000605767,EXAC_SAS_AF,OTOF
428548,2:26698319:C>A,NM_194248.2:c.3034G>T,NP_919224.1:p.Val1012Leu,25/47,\N,Unknown significance,\N,missense_variant,20.8,0.0000866101,EXAC_AMR_AF,OTOF
428549,2:26698321:A>G,NM_194248.2:c.3032T>C,NP_919224.1:p.Leu1011Pro,25/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,29.9,\N,\N,OTOF
428550,2:26698335:G>A,NM_194248.2:c.3018C>T,NP_919224.1:p.Thr1006=,25/47,\N,Unknown significance,\N,synonymous_variant,10.78,0.000121168,EXAC_SAS_AF,OTOF
428551,2:26698336:G>C,NM_194248.2:c.3017C>G,NP_919224.1:p.Thr1006Ser,25/47,\N,Unknown significance,\N,missense_variant,27.8,0.000363504,EXAC_SAS_AF,OTOF
428552,2:26698361:C>A,NM_194322.2:c.922G>T,NP_919303.1:p.Val308Leu,7/29,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.4,0.0000152068,EXAC_NFE_AF,OTOF
428553,2:26698365:C>A,NM_194248.2:c.2992-4G>T,\N,\N,24/46,Unknown significance,\N,splice_region_variant&intron_variant,11.21,0.0000605914,EXAC_SAS_AF,OTOF
428554,2:26698371:G>A,NM_194248.2:c.2992-10C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,9.543,0.0000866251,EXAC_AMR_AF,OTOF
428555,2:26698375:T>A,NM_194248.2:c.2992-14A>T,\N,\N,24/46,Unknown significance,\N,intron_variant,6.163,0.0000976753,EXAC_AFR_AF,OTOF
428556,2:26698375:T>C,NM_194248.2:c.2992-14A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,3.409,0.000116279,EVS_EA_AF,OTOF
428557,2:26698378:G>A,NM_194248.2:c.2992-17C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,2.614,0.0000152341,EXAC_NFE_AF,OTOF
428558,2:26698387:G>A,NM_194248.2:c.2992-26C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,1.904,0.000489908,EXAC_AFR_AF,OTOF
428559,2:26698388:G>A,NM_194248.2:c.2992-27C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,3.325,0.000151515,EXAC_FIN_AF,OTOF
428560,2:26698388:G>C,NM_194248.2:c.2992-27C>G,\N,\N,24/46,Unknown significance,\N,intron_variant,0.765,0.0000152644,EXAC_NFE_AF,OTOF
428561,2:26698393:G>A,NM_194248.2:c.2992-32C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,7.265,0.0000152858,EXAC_NFE_AF,OTOF
428562,2:26698397:CA>C,NM_194248.2:c.2992-37del,\N,\N,24/46,Unknown significance,\N,intron_variant,8.81,\N,\N,OTOF
428563,2:26698398:A>G,NM_194248.2:c.2992-37T>C,\N,\N,24/46,Unknown significance,\N,intron_variant,5.152,0.000205719,EXAC_AFR_AF,OTOF
428564,2:26698399:GA>G,NM_194248.2:c.2992-39del,\N,\N,24/46,Unknown significance,\N,intron_variant,0.362,0.00113895,EXAC_OTH_AF,OTOF
428565,2:26698400:A>AG,NM_194248.2:c.2992-40dup,\N,\N,24/46,Benign,\N,intron_variant,0.185,0.1369,1KG_AFR_AF,OTOF
428566,2:26698400:A>AGG,NM_194248.2:c.2992-41_2992-40dup,\N,\N,24/46,Benign,\N,intron_variant,0.169,0.0131472,EXAC_AFR_AF,OTOF
428567,2:26698400:A>G,NM_194248.2:c.2992-39T>C,\N,\N,24/46,Benign,\N,intron_variant,1.266,0.0121,1KG_AFR_AF,OTOF
428568,2:26698400:AG>A,NM_194248.2:c.2992-40del,\N,\N,24/46,Unknown significance,\N,intron_variant,1.022,0.000203832,EXAC_AFR_AF,OTOF
428569,2:26698401:G>GC,NM_194248.2:c.2992-41_2992-40insG,\N,\N,24/46,Unknown significance,\N,intron_variant,2.258,0.00031348,EXAC_EAS_AF,OTOF
428570,2:26698402:G>C,NM_194248.2:c.2992-41C>G,\N,\N,24/46,Unknown significance,\N,intron_variant,1.524,0.0000614062,EXAC_NFE_AF,OTOF
428571,2:26698402:G>T,NM_194248.2:c.2992-41C>A,\N,\N,24/46,Unknown significance,\N,intron_variant,2.461,0.001,1KG_SAS_AF,OTOF
428572,2:26698403:G>T,NM_194248.2:c.2992-42C>A,\N,\N,24/46,Unknown significance,\N,intron_variant,2.688,0.0000988533,EXAC_AFR_AF,OTOF
428573,2:26698406:G>A,NM_194248.2:c.2992-45C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,5.232,0.00247574,EXAC_AFR_AF,OTOF
428574,2:26698406:G>GA,NM_194248.2:c.2992-46_2992-45insT,\N,\N,24/46,Unknown significance,\N,intron_variant,2.959,0.0000868508,EXAC_AMR_AF,OTOF
428575,2:26698407:G>A,NM_194248.2:c.2992-46C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,4.652,0.0000606575,EXAC_SAS_AF,OTOF
428576,2:26698407:G>T,NM_194248.2:c.2992-46C>A,\N,\N,24/46,Unknown significance,\N,intron_variant,2.736,0.000495148,EXAC_AFR_AF,OTOF
428577,2:26698408:G>A,NM_194248.2:c.2992-47C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,1.814,0.000060687,EXAC_SAS_AF,OTOF
428578,2:26698409:C>CG,NM_194248.2:c.2992-49_2992-48insC,\N,\N,24/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428579,2:26698416:A>G,NM_194248.2:c.2992-55T>C,\N,\N,24/46,Unknown significance,\N,intron_variant,4.906,\N,\N,OTOF
428580,2:26698445:C>T,NM_194248.2:c.2992-84G>A,\N,\N,24/46,Benign,\N,intron_variant,5.496,0.0182,1KG_AFR_AF,OTOF
428581,2:26698452:G>A,NM_194248.2:c.2992-91C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,0.795,0.0008,1KG_AFR_AF,OTOF
428582,2:26698474:A>G,NM_194248.2:c.2992-113T>C,\N,\N,24/46,Unknown significance,\N,intron_variant,5.65,0.0014,1KG_AMR_AF,OTOF
428583,2:26698524:T>C,NM_194248.2:c.2992-163A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,6.298,\N,\N,OTOF
428584,2:26698543:A>G,NM_194248.2:c.2992-182T>C,\N,\N,24/46,Unknown significance,\N,intron_variant,5.511,0.003,1KG_AFR_AF,OTOF
428585,2:26698544:T>C,NM_194248.2:c.2992-183A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,0.459,\N,\N,OTOF
428586,2:26698557:G>A,NM_194248.2:c.2992-196C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,1.195,0.001,1KG_EAS_AF,OTOF
428587,2:26698558:T>C,NM_194248.2:c.2992-197A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,3.116,0.001,1KG_SAS_AF,OTOF
428588,2:26698569:T>C,NM_194248.2:c.2992-208A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,4.513,0.001,1KG_EUR_AF,OTOF
428589,2:26698572:A>C,NM_194248.2:c.2991+210T>G,\N,\N,24/46,Unknown significance,\N,intron_variant,0.447,0.0015,1KG_AFR_AF,OTOF
428590,2:26698593:G>A,NM_194248.2:c.2991+189C>T,\N,\N,24/46,Benign,\N,intron_variant,0.698,0.0159,1KG_EUR_AF,OTOF
428591,2:26698598:C>CT,NM_194248.2:c.2991+183dup,\N,\N,24/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428592,2:26698613:C>T,NM_194248.2:c.2991+169G>A,\N,\N,24/46,Unknown significance,\N,intron_variant,4.981,0.001,1KG_EAS_AF,OTOF
428593,2:26698632:T>C,NM_194248.2:c.2991+150A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,5.083,0.001,1KG_EUR_AF,OTOF
428594,2:26698654:C>T,NM_194248.2:c.2991+128G>A,\N,\N,24/46,Benign,\N,intron_variant,2.053,0.0278,1KG_EAS_AF,OTOF
428595,2:26698655:G>A,NM_194248.2:c.2991+127C>T,\N,\N,24/46,Unknown significance,\N,intron_variant,2.444,0.0008,1KG_AFR_AF,OTOF
428596,2:26698682:G>T,NM_194248.2:c.2991+100C>A,\N,\N,24/46,Benign,\N,intron_variant,3.824,0.8472,1KG_EAS_AF,OTOF
428597,2:26698687:A>G,NM_194248.2:c.2991+95T>C,\N,\N,24/46,Unknown significance,\N,intron_variant,4.163,0.001,1KG_EUR_AF,OTOF
428598,2:26698691:G>T,NM_194248.2:c.2991+91C>A,\N,\N,24/46,Unknown significance,\N,intron_variant,8.588,\N,\N,OTOF
428599,2:26698699:G>T,NM_194248.2:c.2991+83C>A,\N,\N,24/46,Unknown significance,\N,intron_variant,10.33,0.0008,1KG_AFR_AF,OTOF
428600,2:26698730:AGGCTTCTG>A,NM_194248.2:c.2991+44_2991+51del,\N,\N,24/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428601,2:26698740:T>C,NM_194248.2:c.2991+42A>G,\N,\N,24/46,Unknown significance,\N,intron_variant,6.248,0.000316522,EXAC_SAS_AF,OTOF
428602,2:26698748:A>C,NM_194248.2:c.2991+34T>G,\N,\N,24/46,Unknown significance,\N,intron_variant,11.54,0.00454981,EXAC_AFR_AF,OTOF
428603,2:26698750:G>C,NM_194248.2:c.2991+32C>G,\N,\N,24/46,Unknown significance,\N,intron_variant,10.16,\N,\N,OTOF
428604,2:26698752:C>T,NM_194248.2:c.2991+30G>A,\N,\N,24/46,Unknown significance,\N,intron_variant,13.29,0.000116604,EVS_EA_AF,OTOF
428605,2:26698754:G>C,NM_194248.2:c.2991+28C>G,\N,\N,24/46,Unknown significance,\N,intron_variant,10.84,0.0000493486,EXAC_NFE_AF,OTOF
428606,2:26698757:C>G,NM_194248.2:c.2991+25G>C,\N,\N,24/46,Unknown significance,\N,intron_variant,11.94,\N,\N,OTOF
428607,2:26698760:C>T,NM_194248.2:c.2991+22G>A,\N,\N,24/46,Unknown significance,\N,intron_variant,6.677,0.000301568,EXAC_AMR_AF,OTOF
428608,2:26698762:C>A,NM_194248.2:c.2991+20G>T,\N,\N,24/46,Unknown significance,\N,intron_variant,2.466,0.0031,1KG_SAS_AF,OTOF
428609,2:26698762:C>T,NM_194248.2:c.2991+20G>A,\N,\N,24/46,Unknown significance,\N,intron_variant,2.804,0.00010018,EXAC_SAS_AF,OTOF
428610,2:26698766:C>T,NM_194248.2:c.2991+16G>A,\N,\N,24/46,Unknown significance,\N,intron_variant,2.742,\N,\N,OTOF
428611,2:26698777:C>T,NM_194248.2:c.2991+5G>A,\N,\N,24/46,Unknown significance,\N,splice_region_variant&intron_variant,15.45,0.00253807,EXAC_OTH_AF,OTOF
428612,2:26698780:A>C,NM_194248.2:c.2991+2T>G,\N,\N,24/46,Pathogenic,Deafness| autosomal recessive 9,splice_donor_variant,23.4,0.000116414,EVS_EA_AF,OTOF
428613,2:26698781:C>T,NM_194248.2:c.2991+1G>A,\N,\N,24/46,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_donor_variant,26.5,\N,\N,OTOF
428614,2:26698787:T>C,NM_194248.2:c.2986A>G,NP_919224.1:p.Thr996Ala,24/47,\N,Unknown significance,\N,missense_variant,26.1,0.00017452,EXAC_AMR_AF,OTOF
428615,2:26698792:T>C,NM_194248.2:c.2981A>G,NP_919224.1:p.Gln994Arg,24/47,\N,Unknown significance,\N,missense_variant,26.5,0.0000842886,EXAC_SAS_AF,OTOF
428616,2:26698794:ACT>A,NM_194248.2:c.2977_2978del,NP_919224.1:p.Gln994ValfsTer7,24/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,0.0000259862,EXAC_NFE_AF,OTOF
428617,2:26698801:T>C,NM_194248.2:c.2972A>G,NP_919224.1:p.Asn991Ser,24/47,\N,Likely benign,\N,missense_variant,9.179,0.000277008,EXAC_AMR_AF,OTOF
428618,2:26698809:G>C,NM_194248.2:c.2964C>G,NP_919224.1:p.Phe988Leu,24/47,\N,Unknown significance,\N,missense_variant,22.8,0.0000216488,EXAC_NFE_AF,OTOF
428619,2:26698810:A>C,NM_194248.2:c.2963T>G,NP_919224.1:p.Phe988Cys,24/47,\N,Unknown significance,\N,missense_variant,26.5,0.0000213484,EXAC_NFE_AF,OTOF
428620,2:26698811:A>C,NM_194248.2:c.2962T>G,NP_919224.1:p.Phe988Val,24/47,\N,Unknown significance,\N,missense_variant,20.6,\N,\N,OTOF
428621,2:26698814:C>T,NM_194323.2:c.718G>A,NP_919304.1:p.Val240Ile,7/29,\N,Unknown significance,\N,missense_variant,23.5,0.000132696,EXAC_AFR_AF,OTOF
428622,2:26698816:C>T,NM_194248.2:c.2957G>A,NP_919224.1:p.Arg986His,24/47,\N,Unknown significance,\N,missense_variant,33,0.000130719,EXAC_AFR_AF,OTOF
428623,2:26698817:G>A,NM_194248.2:c.2956C>T,NP_919224.1:p.Arg986Cys,24/47,\N,Unknown significance,\N,missense_variant,28.7,0.001,1KG_EUR_AF,OTOF
428624,2:26698818:G>A,NM_194248.2:c.2955C>T,NP_919224.1:p.Ala985=,24/47,\N,Unknown significance,\N,synonymous_variant,6.669,0.0000390839,EXAC_NFE_AF,OTOF
428625,2:26698819:G>A,NM_194248.2:c.2954C>T,NP_919224.1:p.Ala985Val,24/47,\N,Unknown significance,\N,missense_variant,24.8,0.000019425,EXAC_NFE_AF,OTOF
428626,2:26698824:G>A,NM_194248.2:c.2949C>T,NP_919224.1:p.Pro983=,24/47,\N,Likely benign,\N,synonymous_variant,3.705,0.001,1KG_EUR_AF,OTOF
428627,2:26698828:T>G,NM_194248.2:c.2945A>C,NP_919224.1:p.Asp982Ala,24/47,\N,Unknown significance,\N,missense_variant,24.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428628,2:26698839:G>A,NM_194248.2:c.2934C>T,NP_919224.1:p.Ser978=,24/47,\N,Unknown significance,\N,synonymous_variant,10.09,0.000116306,EVS_EA_AF,OTOF
428629,2:26698842:G>A,NM_194248.2:c.2931C>T,NP_919224.1:p.Ser977=,24/47,\N,Unknown significance,\N,synonymous_variant,6.947,0.0000169228,EXAC_NFE_AF,OTOF
428630,2:26698845:G>A,NM_194248.2:c.2928C>T,NP_919224.1:p.Asp976=,24/47,\N,Unknown significance,\N,synonymous_variant,2.011,0.001,1KG_SAS_AF,OTOF
428631,2:26698847:C>T,NM_194248.2:c.2926G>A,NP_919224.1:p.Asp976Asn,24/47,\N,Unknown significance,\N,missense_variant,32,0.000871314,EXAC_SAS_AF,OTOF
428632,2:26698848:G>A,NM_194248.2:c.2925C>T,NP_919224.1:p.Ala975=,24/47,\N,Unknown significance,\N,synonymous_variant,7.056,0.000191534,EXAC_AMR_AF,OTOF
428633,2:26698850:C>T,NM_194248.2:c.2923G>A,NP_919224.1:p.Ala975Thr,24/47,\N,Unknown significance,\N,missense_variant,29.9,0.000121862,EXAC_EAS_AF,OTOF
428634,2:26698850:CGGCAAAGAGGCTGCGGGC>TGCGCTCGGAG,NM_194248.2:c.2905_2923delinsCTCCGAGCGCA,NP_919224.1:p.Ala969LeufsTer30,24/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,\N,\N,\N,OTOF
428635,2:26698851:G>T,NM_194248.2:c.2922C>A,NP_919224.1:p.Ala974=,24/47,\N,Unknown significance,\N,synonymous_variant,8.715,0.0000664275,EXAC_SAS_AF,OTOF
428636,2:26698853:C>CA,NM_194248.2:c.2919dup,NP_919224.1:p.Ala974CysfsTer28,24/47,\N,Pathogenic,Sensorineural hearing loss| nonsyndromic,frameshift_variant,35,\N,\N,OTOF
428637,2:26698860:G>C,NM_194248.2:c.2913C>G,NP_919224.1:p.Ser971Arg,24/47,\N,Unknown significance,\N,missense_variant,24.1,0.001,1KG_EUR_AF,OTOF
428638,2:26698865:G>A,NM_194248.2:c.2908C>T,NP_919224.1:p.Arg970Cys,24/47,\N,Likely benign,\N,missense_variant,34,0.002,1KG_EUR_AF,OTOF
428639,2:26698870:T>C,NM_194248.2:c.2903A>G,NP_919224.1:p.Gln968Arg,24/47,\N,Unknown significance,\N,missense_variant,26.6,0.000258298,EXAC_SAS_AF,OTOF
428640,2:26698873:T>G,NM_194248.2:c.2900A>C,NP_919224.1:p.Tyr967Ser,24/47,\N,Unknown significance,\N,missense_variant,28.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428641,2:26698879:T>C,NM_194248.2:c.2894A>G,NP_919224.1:p.His965Arg,24/47,\N,Unknown significance,\N,missense_variant,24.3,0.000118878,EXAC_EAS_AF,OTOF
428642,2:26698880:G>A,NM_194248.2:c.2893C>T,NP_919224.1:p.His965Tyr,24/47,\N,Unknown significance,\N,missense_variant,27.2,0.0000159337,EXAC_NFE_AF,OTOF
428643,2:26698881:C>T,NM_194248.2:c.2892G>A,NP_919224.1:p.Ala964=,24/47,\N,Unknown significance,\N,synonymous_variant,17.62,0.0000318796,EXAC_NFE_AF,OTOF
428644,2:26698882:G>T,NM_194248.2:c.2891C>A,NP_919224.1:p.Ala964Glu,24/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,32,\N,\N,OTOF
428645,2:26698882:G>A,NM_194248.2:c.2891C>T,NP_919224.1:p.Ala964Val,24/47,\N,Unknown significance,\N,missense_variant,23.5,0.000227169,EVS_AA_AF,OTOF
428646,2:26698882:G>C,NM_194248.2:c.2891C>G,NP_919224.1:p.Ala964Gly,24/47,\N,Unknown significance,\N,missense_variant,29.5,0.000106293,EXAC_AFR_AF,OTOF
428647,2:26698885:C>T,NM_194248.2:c.2888G>A,NP_919224.1:p.Arg963Gln,24/47,\N,Unknown significance,\N,missense_variant,34,0.0000636497,EXAC_NFE_AF,OTOF
428648,2:26698886:G>A,NM_194248.2:c.2887C>T,NP_919224.1:p.Arg963Ter,24/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,40,0.000116333,EVS_EA_AF,OTOF
428649,2:26698892:G>C,NM_194322.2:c.811C>G,NP_919303.1:p.Gln271Glu,6/29,\N,Unknown significance,\N,missense_variant,16.85,0.000063589,EXAC_SAS_AF,OTOF
428650,2:26698896:C>T,NM_194248.2:c.2877G>A,NP_919224.1:p.Ala959=,24/47,\N,Likely benign,\N,synonymous_variant,15.49,0.000272975,EXAC_AMR_AF,OTOF
428651,2:26698897:G>A,NM_194248.2:c.2876C>T,NP_919224.1:p.Ala959Val,24/47,\N,Likely benign,\N,missense_variant,6.743,0.000127049,EXAC_SAS_AF,OTOF
428652,2:26698898:C>T,NM_194248.2:c.2875G>A,NP_919224.1:p.Ala959Thr,24/47,\N,Likely benign,\N,missense_variant,7.968,0.0000158675,EXAC_NFE_AF,OTOF
428653,2:26698903:T>C,NM_194248.2:c.2870A>G,NP_919224.1:p.Lys957Arg,24/47,\N,Unknown significance,\N,missense_variant,13.24,0.0000906125,EXAC_AMR_AF,OTOF
428654,2:26698910:T>C,NM_194248.2:c.2867-4A>G,\N,\N,23/46,Unknown significance,\N,splice_region_variant&intron_variant,8.634,0.000185598,EXAC_FIN_AF,OTOF
428655,2:26698912:G>A,NM_194248.2:c.2867-6C>T,\N,\N,23/46,Unknown significance,\N,splice_region_variant&intron_variant,10.58,\N,\N,OTOF
428656,2:26698913:G>C,NM_194248.2:c.2867-7C>G,\N,\N,23/46,Unknown significance,\N,splice_region_variant&intron_variant,5.699,0.000119133,EXAC_EAS_AF,OTOF
428657,2:26698914:G>C,NM_194248.2:c.2867-8C>G,\N,\N,23/46,Unknown significance,\N,splice_region_variant&intron_variant,4.892,0.0000634679,EXAC_SAS_AF,OTOF
428658,2:26698918:G>A,NM_194248.2:c.2867-12C>T,\N,\N,23/46,Unknown significance,\N,intron_variant,5.148,0.0000477753,EXAC_NFE_AF,OTOF
428659,2:26698923:C>T,NM_194248.2:c.2867-17G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,1.77,0.00022748,EVS_AA_AF,OTOF
428660,2:26698925:T>G,NM_194248.2:c.2867-19A>C,\N,\N,23/46,Unknown significance,\N,intron_variant,6.47,0.0000159424,EXAC_NFE_AF,OTOF
428661,2:26698935:G>T,NM_194248.2:c.2867-29C>A,\N,\N,23/46,Benign,\N,intron_variant,1.254,0.0175,OTO_JP_AF,OTOF
428662,2:26698946:C>A,NM_194248.2:c.2867-40G>T,\N,\N,23/46,Unknown significance,\N,intron_variant,9.293,0.0000486098,EXAC_NFE_AF,OTOF
428663,2:26698947:C>A,NM_194248.2:c.2867-41G>T,\N,\N,23/46,Unknown significance,\N,intron_variant,8.599,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428664,2:26698951:C>T,NM_194248.2:c.2866+45G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,6.489,0.0008,1KG_AFR_AF,OTOF
428665,2:26698952:G>A,NM_194248.2:c.2866+44C>T,\N,\N,23/46,Unknown significance,\N,intron_variant,1.919,0.00011636,EVS_EA_AF,OTOF
428666,2:26698953:GC>G,NM_194248.2:c.2866+42del,\N,\N,23/46,Unknown significance,\N,intron_variant,4.798,0.0000162043,EXAC_NFE_AF,OTOF
428667,2:26698954:C>T,NM_194248.2:c.2866+42G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,6.5,0.000107021,EXAC_AFR_AF,OTOF
428668,2:26698955:C>T,NM_194248.2:c.2866+41G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,7.284,0.001,1KG_EAS_AF,OTOF
428669,2:26698957:C>T,NM_194248.2:c.2866+39G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,4.752,\N,\N,OTOF
428670,2:26698966:T>G,NM_194248.2:c.2866+30A>C,\N,\N,23/46,Unknown significance,\N,intron_variant,5.843,0.0000162227,EXAC_NFE_AF,OTOF
428671,2:26698972:T>A,NM_194248.2:c.2866+24A>T,\N,\N,23/46,Unknown significance,\N,intron_variant,4.732,0.000093006,EXAC_AMR_AF,OTOF
428672,2:26698974:C>T,NM_194248.2:c.2866+22G>A,\N,\N,23/46,Unknown significance,\N,intron_variant,0.868,0.0000162824,EXAC_NFE_AF,OTOF
428673,2:26698975:G>A,NM_194248.2:c.2866+21C>T,\N,\N,23/46,Unknown significance,\N,intron_variant,0.502,0.000186776,EXAC_AMR_AF,OTOF
428674,2:26698975:G>T,NM_194248.2:c.2866+21C>A,\N,\N,23/46,Unknown significance,\N,intron_variant,0.169,0.00011636,EVS_EA_AF,OTOF
428675,2:26698980:A>G,NM_194248.2:c.2866+16T>C,\N,\N,23/46,Unknown significance,\N,intron_variant,2.254,0.0000636943,EXAC_SAS_AF,OTOF
428676,2:26698981:G>A,NM_194248.2:c.2866+15C>T,\N,\N,23/46,Unknown significance,\N,intron_variant,3.017,\N,\N,OTOF
428677,2:26698983:G>A,NM_194248.2:c.2866+13C>T,\N,\N,23/46,Benign,\N,intron_variant,1.054,0.01,OTO_TR_AF,OTOF
428678,2:26698985:T>G,NM_194248.2:c.2866+11A>C,\N,\N,23/46,Benign,\N,intron_variant,4.085,0.005,OTO_TR_AF,OTOF
428679,2:26698986:C>G,NM_194248.2:c.2866+10G>C,\N,\N,23/46,Unknown significance,\N,intron_variant,10.1,0.00022779,EVS_AA_AF,OTOF
428680,2:26698986:CCTCA>C,NM_194248.2:c.2866+6_2866+9del,\N,\N,23/46,Unknown significance,\N,splice_region_variant&intron_variant,16.69,0.0000486966,EXAC_NFE_AF,OTOF
428681,2:26698995:C>T,NM_194248.2:c.2866+1G>A,\N,\N,23/46,Pathogenic,Deafness| non-syndromic,splice_donor_variant,26.8,\N,\N,OTOF
428682,2:26699000:G>A,NM_194248.2:c.2862C>T,NP_919224.1:p.Tyr954=,23/47,\N,Unknown significance,\N,synonymous_variant,2.827,0.000016127,EXAC_NFE_AF,OTOF
428683,2:26699003:G>A,NM_194248.2:c.2859C>T,NP_919224.1:p.Val953=,23/47,\N,Likely benign,\N,synonymous_variant,10.61,0.002,1KG_EUR_AF,OTOF
428684,2:26699005:C>A,NM_194248.2:c.2857G>T,NP_919224.1:p.Val953Phe,23/47,\N,Likely benign,\N,missense_variant,15.63,0.000122011,EXAC_EAS_AF,OTOF
428685,2:26699014:C>T,NM_194248.2:c.2848G>A,NP_919224.1:p.Val950Ile,23/47,\N,Likely benign,\N,missense_variant,11.34,0.001,1KG_EUR_AF,OTOF
428686,2:26699015:G>A,NM_194248.2:c.2847C>T,NP_919224.1:p.Pro949=,23/47,\N,Unknown significance,\N,synonymous_variant,5.473,0.000242601,EXAC_EAS_AF,OTOF
428687,2:26699018:T>G,NM_194248.2:c.2844A>C,NP_919224.1:p.Pro948=,23/47,\N,Benign,\N,synonymous_variant,0.014,0.005,OTO_TR_AF,OTOF
428688,2:26699026:C>A,NM_194248.2:c.2836G>T,NP_919224.1:p.Ala946Ser,23/47,\N,Likely benign,\N,missense_variant,0.114,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428689,2:26699029:G>GCAGGCC,NM_194248.2:c.2827_2832dup,NP_919224.1:p.Gly943_Leu944dup,23/47,\N,Unknown significance,\N,inframe_insertion,13.74,0.0000316286,EXAC_NFE_AF,OTOF
428690,2:26699029:G>T,NM_194248.2:c.2833C>A,NP_919224.1:p.His945Asn,23/47,\N,Likely benign,\N,missense_variant,11.64,0.0000158143,EXAC_NFE_AF,OTOF
428691,2:26699033:G>A,NM_194248.2:c.2829C>T,NP_919224.1:p.Gly943=,23/47,\N,Benign,\N,synonymous_variant,9.122,0.1566,1KG_AFR_AF,OTOF
428692,2:26699039:G>A,NM_194248.2:c.2823C>T,NP_919224.1:p.Gly941=,23/47,\N,Unknown significance,\N,synonymous_variant,10.95,0.0000619579,EXAC_SAS_AF,OTOF
428693,2:26699041:C>T,NM_194248.2:c.2821G>A,NP_919224.1:p.Gly941Ser,23/47,\N,Unknown significance,\N,missense_variant,22.1,0.0000889047,EXAC_AMR_AF,OTOF
428694,2:26699044:G>A,NM_194248.2:c.2818C>T,NP_919224.1:p.Gln940Ter,23/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,38,\N,\N,OTOF
428695,2:26699054:G>A,NM_194248.2:c.2808C>T,NP_919224.1:p.Val936=,23/47,\N,Unknown significance,\N,synonymous_variant,9.238,0.000227273,EVS_AA_AF,OTOF
428696,2:26699055:A>T,NM_194248.2:c.2807T>A,NP_919224.1:p.Val936Asp,23/47,\N,Unknown significance,\N,missense_variant,13.51,0.0000155608,EXAC_NFE_AF,OTOF
428697,2:26699055:A>C,NM_194248.2:c.2807T>G,NP_919224.1:p.Val936Gly,23/47,\N,Unknown significance,\N,missense_variant,12.28,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428698,2:26699059:C>A,NM_194248.2:c.2803G>T,NP_919224.1:p.Glu935Ter,23/47,\N,Unknown significance,\N,stop_gained,40,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428699,2:26699073:G>A,NM_194248.2:c.2789C>T,NP_919224.1:p.Pro930Leu,23/47,\N,Unknown significance,\N,missense_variant,28.7,0.0000875657,EXAC_AMR_AF,OTOF
428700,2:26699074:G>A,NM_194248.2:c.2788C>T,NP_919224.1:p.Pro930Ser,23/47,\N,Unknown significance,\N,missense_variant,26.8,0.0000610277,EXAC_SAS_AF,OTOF
428701,2:26699075:C>A,NM_194248.2:c.2787G>T,NP_919224.1:p.Leu929=,23/47,\N,Unknown significance,\N,synonymous_variant,12.77,0.0015,1KG_AFR_AF,OTOF
428702,2:26699075:C>G,NM_194248.2:c.2787G>C,NP_919224.1:p.Leu929=,23/47,\N,Unknown significance,\N,synonymous_variant,8.683,0.0000609905,EXAC_SAS_AF,OTOF
428703,2:26699079:C>A,NM_194248.2:c.2783G>T,NP_919224.1:p.Gly928Val,23/47,\N,Unknown significance,\N,missense_variant,29.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428704,2:26699080:C>A,NM_194248.2:c.2782G>T,NP_919224.1:p.Gly928Cys,23/47,\N,Unknown significance,\N,missense_variant,34,0.0000997606,EXAC_AFR_AF,OTOF
428705,2:26699080:C>T,NM_194248.2:c.2782G>A,NP_919224.1:p.Gly928Ser,23/47,\N,Unknown significance,\N,missense_variant,33,0.0000874279,EXAC_AMR_AF,OTOF
428706,2:26699081:G>A,NM_194248.2:c.2781C>T,NP_919224.1:p.Cys927=,23/47,\N,Unknown significance,\N,synonymous_variant,4.935,0.001,1KG_EUR_AF,OTOF
428707,2:26699084:C>G,NM_194248.2:c.2778G>C,NP_919224.1:p.Leu926=,23/47,\N,Unknown significance,\N,synonymous_variant,10.15,0.0000607755,EXAC_SAS_AF,OTOF
428708,2:26699084:C>A,NM_194248.2:c.2778G>T,NP_919224.1:p.Leu926=,23/47,\N,Unknown significance,\N,synonymous_variant,14.83,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428709,2:26699089:A>G,NM_194248.2:c.2773T>C,NP_919224.1:p.Phe925Leu,23/47,\N,Unknown significance,\N,missense_variant,23,0.000667962,EXAC_SAS_AF,OTOF
428710,2:26699089:A>T,NM_194248.2:c.2773T>A,NP_919224.1:p.Phe925Ile,23/47,\N,Unknown significance,\N,missense_variant,24.1,0.0031,1KG_SAS_AF,OTOF
428711,2:26699093:C>T,NM_194248.2:c.2769G>A,NP_919224.1:p.Lys923=,23/47,\N,Unknown significance,\N,synonymous_variant,13.03,0.0000154885,EXAC_NFE_AF,OTOF
428712,2:26699093:C>A,NM_194248.2:c.2769G>T,NP_919224.1:p.Lys923Asn,23/47,\N,Unknown significance,\N,missense_variant,24.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428713,2:26699096:G>A,NM_194248.2:c.2766C>T,NP_919224.1:p.Arg922=,23/47,\N,Unknown significance,\N,synonymous_variant,8.77,0.000116333,EVS_EA_AF,OTOF
428714,2:26699097:C>A,NM_194322.2:c.695G>T,NP_919303.1:p.Arg232Leu,5/29,\N,Unknown significance,\N,missense_variant,27.7,0.000227273,EVS_AA_AF,OTOF
428715,2:26699097:C>T,NM_194248.2:c.2765G>A,NP_919224.1:p.Arg922His,23/47,\N,Unknown significance,\N,missense_variant,34,0.0000154957,EXAC_NFE_AF,OTOF
428716,2:26699098:G>A,NM_194323.2:c.523C>T,NP_919304.1:p.Arg175Cys,6/29,\N,Unknown significance,\N,missense_variant,24.6,0.0000995223,EXAC_AFR_AF,OTOF
428717,2:26699114:C>T,NM_194248.2:c.2748G>A,NP_919224.1:p.Leu916=,23/47,\N,Unknown significance,\N,synonymous_variant,12.91,0.0000155188,EXAC_NFE_AF,OTOF
428718,2:26699126:C>CAGCT,NM_194248.2:c.2732_2735dup,NP_919224.1:p.Tyr913AlafsTer90,23/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,28.3,\N,\N,OTOF
428719,2:26699126:C>G,NM_194248.2:c.2736G>C,NP_919224.1:p.Leu912=,23/47,\N,Benign,\N,synonymous_variant,0.31,0.986765,EXAC_EAS_AF,OTOF
428720,2:26699126:C>A,NM_194248.2:c.2736G>T,NP_919224.1:p.Leu912=,23/47,\N,Unknown significance,\N,synonymous_variant,4.728,0.0000606722,EXAC_SAS_AF,OTOF
428721,2:26699127:A>G,NM_194248.2:c.2735T>C,NP_919224.1:p.Leu912Pro,23/47,\N,Unknown significance,\N,missense_variant,24.2,0.000309981,EXAC_FIN_AF,OTOF
428722,2:26699129:C>T,NM_194248.2:c.2733G>A,NP_919224.1:p.Glu911=,23/47,\N,Unknown significance,\N,synonymous_variant,8.032,0.000407581,EXAC_AFR_AF,OTOF
428723,2:26699133:A>C,NM_194248.2:c.2729T>G,NP_919224.1:p.Val910Gly,23/47,\N,Unknown significance,\N,missense_variant,23.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428724,2:26699144:C>A,NM_194248.2:c.2718G>T,NP_919224.1:p.Val906=,23/47,\N,Unknown significance,\N,synonymous_variant,12.51,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428725,2:26699155:C>T,NM_194248.2:c.2707G>A,NP_919224.1:p.Gly903Ser,23/47,\N,Unknown significance,\N,missense_variant,28.7,0.0000163031,EXAC_NFE_AF,OTOF
428726,2:26699156:T>C,NM_194248.2:c.2706A>G,NP_919224.1:p.Ala902=,23/47,\N,Unknown significance,\N,synonymous_variant,0.055,0.000115794,EXAC_AFR_AF,OTOF
428727,2:26699158:C>T,NM_194322.2:c.634G>A,NP_919303.1:p.Ala212Thr,5/29,\N,Unknown significance,\N,missense_variant,23.6,0.000032396,EXAC_NFE_AF,OTOF
428728,2:26699159:C>T,NM_194248.2:c.2703G>A,NP_919224.1:p.Ser901=,23/47,\N,Benign,\N,synonymous_variant,12.74,0.2725,OTO_JP_AF,OTOF
428729,2:26699160:G>A,NM_194248.2:c.2702C>T,NP_919224.1:p.Ser901Leu,23/47,\N,Unknown significance,\N,missense_variant,21.2,0.001,1KG_SAS_AF,OTOF
428730,2:26699164:C>T,NM_194248.2:c.2698G>A,NP_919224.1:p.Gly900Ser,23/47,\N,Unknown significance,\N,missense_variant,31,0.000118991,EXAC_EAS_AF,OTOF
428731,2:26699165:G>A,NM_194248.2:c.2697C>T,NP_919224.1:p.Phe899=,23/47,\N,Unknown significance,\N,synonymous_variant,9.08,0.000110767,EXAC_AFR_AF,OTOF
428732,2:26699169:C>A,NM_194248.2:c.2693G>T,NP_919224.1:p.Gly898Val,23/47,\N,Unknown significance,\N,missense_variant,23.7,0.0000161384,EXAC_NFE_AF,OTOF
428733,2:26699169:C>T,NM_194248.2:c.2693G>A,NP_919224.1:p.Gly898Asp,23/47,\N,Unknown significance,\N,missense_variant,23.7,0.0000884643,EXAC_AMR_AF,OTOF
428734,2:26699172:C>T,NM_194248.2:c.2690G>A,NP_919224.1:p.Arg897Gln,23/47,\N,Unknown significance,\N,missense_variant,26.1,0.000531632,EXAC_AMR_AF,OTOF
428735,2:26699173:G>A,NM_194248.2:c.2689C>T,NP_919224.1:p.Arg897Trp,23/47,\N,Unknown significance,\N,missense_variant,27.4,0.0000615536,EXAC_SAS_AF,OTOF
428736,2:26699176:TCC>T,NM_194248.2:c.2684_2685del,NP_919224.1:p.Gly895GlufsTer106,23/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,34,\N,\N,OTOF
428737,2:26699178:C>T,NM_194248.2:c.2684G>A,NP_919224.1:p.Gly895Glu,23/47,\N,Unknown significance,\N,missense_variant,26.7,0.001,1KG_EAS_AF,OTOF
428738,2:26699183:C>A,NM_194248.2:c.2679G>T,NP_919224.1:p.Leu893=,23/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.958,0.000604595,EXAC_EAS_AF,OTOF
428739,2:26699187:T>TG,NM_194248.2:c.2677-3dup,\N,\N,22/46,Unknown significance,\N,splice_region_variant&intron_variant,9.371,0.000062004,EXAC_SAS_AF,OTOF
428740,2:26699192:G>T,NM_194248.2:c.2677-7C>A,\N,\N,22/46,Unknown significance,\N,splice_region_variant&intron_variant,3.101,0.00012458,EXAC_SAS_AF,OTOF
428741,2:26699193:T>G,NM_194248.2:c.2677-8A>C,\N,\N,22/46,Unknown significance,\N,splice_region_variant&intron_variant,0.628,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428742,2:26699194:G>A,NM_194248.2:c.2677-9C>T,\N,\N,22/46,Unknown significance,\N,intron_variant,4.262,0.000491521,EXAC_EAS_AF,OTOF
428743,2:26699195:G>A,NM_194248.2:c.2677-10C>T,\N,\N,22/46,Unknown significance,\N,intron_variant,7.584,0.001,1KG_SAS_AF,OTOF
428744,2:26699201:G>C,NM_194248.2:c.2677-16C>G,\N,\N,22/46,Unknown significance,\N,intron_variant,9.85,0.000166834,EXAC_FIN_AF,OTOF
428745,2:26699204:T>G,NM_194248.2:c.2677-19A>C,\N,\N,22/46,Unknown significance,\N,intron_variant,14.24,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428746,2:26699214:C>T,NM_194248.2:c.2677-29G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,11.01,0.001,1KG_EAS_AF,OTOF
428747,2:26699218:ACG>A,NM_194248.2:c.2677-35_2677-34del,\N,\N,22/46,Unknown significance,\N,intron_variant,7.637,0.0000636456,EXAC_SAS_AF,OTOF
428748,2:26699219:C>T,NM_194248.2:c.2677-34G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,7.602,0.0000868991,EXAC_NFE_AF,OTOF
428749,2:26699220:G>A,NM_194248.2:c.2677-35C>T,\N,\N,22/46,Unknown significance,\N,intron_variant,7.683,0.001,1KG_EAS_AF,OTOF
428750,2:26699220:G>T,NM_194248.2:c.2677-35C>A,\N,\N,22/46,Unknown significance,\N,intron_variant,5.463,0.000034992,EXAC_NFE_AF,OTOF
428751,2:26699244:G>A,NM_194248.2:c.2677-59C>T,\N,\N,22/46,Unknown significance,\N,intron_variant,9.676,\N,\N,OTOF
428752,2:26699290:C>T,NM_194248.2:c.2677-105G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,5.591,\N,\N,OTOF
428753,2:26699320:G>A,NM_194248.2:c.2677-135C>T,\N,\N,22/46,Unknown significance,\N,intron_variant,1.077,0.0014,1KG_AMR_AF,OTOF
428754,2:26699358:C>G,NM_194248.2:c.2677-173G>C,\N,\N,22/46,Unknown significance,\N,intron_variant,1.358,0.001,1KG_EUR_AF,OTOF
428755,2:26699375:C>G,NM_194248.2:c.2677-190G>C,\N,\N,22/46,Benign,\N,intron_variant,2.04,0.0216,1KG_AMR_AF,OTOF
428756,2:26699380:C>G,NM_194248.2:c.2677-195G>C,\N,\N,22/46,Unknown significance,\N,intron_variant,2.633,\N,\N,OTOF
428757,2:26699391:C>G,NM_194248.2:c.2677-206G>C,\N,\N,22/46,Unknown significance,\N,intron_variant,2.118,\N,\N,OTOF
428758,2:26699397:CCCCCACCTCCTT>C,NM_194248.2:c.2677-224_2677-213del,\N,\N,22/46,Benign,\N,intron_variant,1.68,0.5913,1KG_EAS_AF,OTOF
428759,2:26699418:C>T,NM_194248.2:c.2677-233G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,3.135,\N,\N,OTOF
428760,2:26699476:C>G,NM_194248.2:c.2676+283G>C,\N,\N,22/46,Unknown significance,\N,intron_variant,1.21,0.0015,1KG_AFR_AF,OTOF
428761,2:26699583:C>A,NM_194248.2:c.2676+176G>T,\N,\N,22/46,Unknown significance,\N,intron_variant,3.541,\N,\N,OTOF
428762,2:26699605:C>T,NM_194248.2:c.2676+154G>A,\N,\N,22/46,Benign,\N,intron_variant,3.267,0.0072,1KG_SAS_AF,OTOF
428763,2:26699606:A>C,NM_194248.2:c.2676+153T>G,\N,\N,22/46,Benign,\N,intron_variant,3.253,0.0091,1KG_AFR_AF,OTOF
428764,2:26699616:C>A,NM_194248.2:c.2676+143G>T,\N,\N,22/46,Unknown significance,\N,intron_variant,2.559,0.001,1KG_SAS_AF,OTOF
428765,2:26699620:G>C,NM_194248.2:c.2676+139C>G,\N,\N,22/46,Unknown significance,\N,intron_variant,0.311,0.001,1KG_SAS_AF,OTOF
428766,2:26699647:A>G,NM_194248.2:c.2676+112T>C,\N,\N,22/46,Unknown significance,\N,intron_variant,9.685,0.0014,1KG_AMR_AF,OTOF
428767,2:26699699:T>G,NM_194248.2:c.2676+60A>C,\N,\N,22/46,Unknown significance,\N,intron_variant,2.677,\N,\N,OTOF
428768,2:26699711:C>T,NM_194248.2:c.2676+48G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,6.995,0.000015465,EXAC_NFE_AF,OTOF
428769,2:26699712:TC>T,NM_194248.2:c.2676+46del,\N,\N,22/46,Unknown significance,\N,intron_variant,4.721,0.0023,1KG_AFR_AF,OTOF
428770,2:26699713:C>T,NM_194248.2:c.2676+46G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,7.238,0.0000309387,EXAC_NFE_AF,OTOF
428771,2:26699716:CT>C,NM_194248.2:c.2676+42del,\N,\N,22/46,Unknown significance,\N,intron_variant,5.496,0.0000154636,EXAC_NFE_AF,OTOF
428772,2:26699722:G>C,NM_194248.2:c.2676+37C>G,\N,\N,22/46,Unknown significance,\N,intron_variant,3.274,0.0000154593,EXAC_NFE_AF,OTOF
428773,2:26699726:C>A,NM_194248.2:c.2676+33G>T,\N,\N,22/46,Unknown significance,\N,intron_variant,6.827,0.000100341,EXAC_AFR_AF,OTOF
428774,2:26699726:C>G,NM_194248.2:c.2676+33G>C,\N,\N,22/46,Unknown significance,\N,intron_variant,5.494,0.0004245,EXAC_SAS_AF,OTOF
428775,2:26699736:A>G,NM_194248.2:c.2676+23T>C,\N,\N,22/46,Unknown significance,\N,intron_variant,1.433,0.00128896,EXAC_EAS_AF,OTOF
428776,2:26699736:A>T,NM_194248.2:c.2676+23T>A,\N,\N,22/46,Unknown significance,\N,intron_variant,0.992,0.00109627,EXAC_AFR_AF,OTOF
428777,2:26699741:T>C,NM_194248.2:c.2676+18A>G,\N,\N,22/46,Unknown significance,\N,intron_variant,1.507,0.0000154135,EXAC_NFE_AF,OTOF
428778,2:26699747:C>T,NM_194248.2:c.2676+12G>A,\N,\N,22/46,Unknown significance,\N,intron_variant,1.57,0.0000153993,EXAC_NFE_AF,OTOF
428779,2:26699749:C>G,NM_194248.2:c.2676+10G>C,\N,\N,22/46,Likely benign,\N,intron_variant,3.557,\N,\N,OTOF
428780,2:26699754:A>C,NM_194248.2:c.2676+5T>G,\N,\N,22/46,Unknown significance,\N,splice_region_variant&intron_variant,3.797,0.000116741,EXAC_EAS_AF,OTOF
428781,2:26699755:G>T,NM_194248.2:c.2676+4C>A,\N,\N,22/46,Unknown significance,\N,splice_region_variant&intron_variant,11.16,0.000116741,EXAC_EAS_AF,OTOF
428782,2:26699765:G>A,NM_194248.2:c.2670C>T,NP_919224.1:p.Phe890=,22/47,\N,Unknown significance,\N,synonymous_variant,11.03,0.0000606061,EXAC_SAS_AF,OTOF
428783,2:26699771:C>T,NM_194248.2:c.2664G>A,NP_919224.1:p.Thr888=,22/47,\N,Unknown significance,\N,synonymous_variant,18.25,0.000682128,EVS_AA_AF,OTOF
428784,2:26699772:G>A,NM_194248.2:c.2663C>T,NP_919224.1:p.Thr888Met,22/47,\N,Unknown significance,\N,missense_variant,32,0.0000866551,EXAC_AMR_AF,OTOF
428785,2:26699772:G>C,NM_194248.2:c.2663C>G,NP_919224.1:p.Thr888Arg,22/47,\N,Unknown significance,\N,missense_variant,30,0.00011655,EXAC_EAS_AF,OTOF
428786,2:26699772:G>T,NM_194248.2:c.2663C>A,NP_919224.1:p.Thr888Lys,22/47,\N,Unknown significance,\N,missense_variant,33,0.000121212,EXAC_SAS_AF,OTOF
428787,2:26699774:C>T,NM_194248.2:c.2661G>A,NP_919224.1:p.Lys887=,22/47,\N,Unknown significance,\N,synonymous_variant,15.93,0.00034965,EXAC_EAS_AF,OTOF
428788,2:26699775:T>C,NM_194248.2:c.2660A>G,NP_919224.1:p.Lys887Arg,22/47,\N,Unknown significance,\N,missense_variant,24,0.0000153341,EXAC_NFE_AF,OTOF
428789,2:26699780:C>T,NM_194248.2:c.2655G>A,NP_919224.1:p.Lys885=,22/47,\N,Unknown significance,\N,synonymous_variant,16.28,0.0000606061,EXAC_SAS_AF,OTOF
428790,2:26699785:C>T,NM_194248.2:c.2650G>A,NP_919224.1:p.Ala884Thr,22/47,\N,Unknown significance,\N,missense_variant,26.9,0.00166994,EXAC_AFR_AF,OTOF
428791,2:26699786:G>T,NM_194248.2:c.2649C>A,NP_919224.1:p.Cys883Ter,22/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,37,\N,\N,OTOF
428792,2:26699786:G>A,NM_194248.2:c.2649C>T,NP_919224.1:p.Cys883=,22/47,\N,Unknown significance,\N,synonymous_variant,13.34,0.001,1KG_SAS_AF,OTOF
428793,2:26699789:G>C,NM_001287489.1:c.2646C>G,NP_001274418.1:p.Asp882Glu,22/46,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,OTOF
428794,2:26699794:T>C,NM_194248.2:c.2641A>G,NP_919224.1:p.Lys881Glu,22/47,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,OTOF
428795,2:26699800:TCTC>T,NM_194248.2:c.2632_2634del,NP_919224.1:p.Glu878del,22/47,\N,Unknown significance,\N,inframe_deletion,21.5,\N,\N,OTOF
428796,2:26699806:C>T,NM_004802.3:c.388G>A,NP_004793.2:p.Glu130Lys,5/30,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,OTOF
428797,2:26699808:T>C,NM_194248.2:c.2627A>G,NP_919224.1:p.Glu876Gly,22/47,\N,Unknown significance,\N,missense_variant,23.1,0.0000153219,EXAC_NFE_AF,OTOF
428798,2:26699812:C>T,NM_194248.2:c.2623G>A,NP_919224.1:p.Val875Met,22/47,\N,Unknown significance,\N,missense_variant,34,0.0000306466,EXAC_NFE_AF,OTOF
428799,2:26699813:G>A,NM_194248.2:c.2622C>T,NP_919224.1:p.Ile874=,22/47,\N,Unknown significance,\N,synonymous_variant,18.05,0.000232829,EVS_EA_AF,OTOF
428800,2:26699815:T>A,NM_194248.2:c.2620A>T,NP_919224.1:p.Ile874Phe,22/47,\N,Unknown significance,\N,missense_variant,18.65,0.000116333,EXAC_EAS_AF,OTOF
428801,2:26699817:G>T,NM_194248.2:c.2618C>A,NP_919224.1:p.Ser873Tyr,22/47,\N,Unknown significance,\N,missense_variant,28.5,0.000227583,EVS_AA_AF,OTOF
428802,2:26699820:A>G,NM_194248.2:c.2615T>C,NP_919224.1:p.Phe872Ser,22/47,\N,Unknown significance,\N,missense_variant,24.6,0.0000980777,EXAC_AFR_AF,OTOF
428803,2:26699822:G>A,NM_194248.2:c.2613C>T,NP_919224.1:p.Leu871=,22/47,\N,Benign,\N,synonymous_variant,12.63,0.1825,OTO_JP_AF,OTOF
428804,2:26699824:G>A,NM_194248.2:c.2611C>T,NP_919224.1:p.Leu871Phe,22/47,\N,Unknown significance,\N,missense_variant,27.7,\N,\N,OTOF
428805,2:26699827:G>A,NM_194248.2:c.2608C>T,NP_919224.1:p.Leu870=,22/47,\N,Unknown significance,\N,synonymous_variant,11.01,0.0000768026,EXAC_NFE_AF,OTOF
428806,2:26699844:C>T,NM_194248.2:c.2591G>A,NP_919224.1:p.Arg864His,22/47,\N,Unknown significance,\N,missense_variant,34,0.0000311585,EXAC_NFE_AF,OTOF
428807,2:26699845:G>A,NM_194248.2:c.2590C>T,NP_919224.1:p.Arg864Cys,22/47,\N,Unknown significance,\N,missense_variant,33,0.000601202,EXAC_AFR_AF,OTOF
428808,2:26699852:G>A,NM_194248.2:c.2583C>T,NP_919224.1:p.Ala861=,22/47,\N,Unknown significance,\N,synonymous_variant,10.95,0.000350222,EXAC_EAS_AF,OTOF
428809,2:26699853:G>A,NM_001287489.1:c.2582C>T,NP_001274418.1:p.Ala861Val,22/46,\N,Unknown significance,\N,missense_variant,32,0.0000788693,EXAC_NFE_AF,OTOF
428810,2:26699854:C>T,NM_194248.2:c.2581G>A,NP_919224.1:p.Ala861Thr,22/47,\N,Unknown significance,\N,missense_variant,34,0.000116496,EVS_EA_AF,OTOF
428811,2:26699855:G>C,NM_194248.2:c.2580C>G,NP_919224.1:p.Val860=,22/47,\N,Benign,\N,synonymous_variant,12.67,1,OTO_ALL_AF|OTO_CO_AF|OTO_JP_AF,OTOF
428812,2:26699855:G>A,NM_194248.2:c.2580C>T,NP_919224.1:p.Val860=,22/47,\N,Unknown significance,\N,synonymous_variant,14.54,0.000102375,EXAC_AFR_AF,OTOF
428813,2:26699858:A>G,NM_194248.2:c.2577T>C,NP_919224.1:p.Arg859=,22/47,\N,Unknown significance,\N,synonymous_variant,3.533,0.0000169572,EXAC_NFE_AF,OTOF
428814,2:26699859:C>G,NM_194248.2:c.2576G>C,NP_919224.1:p.Arg859Pro,22/47,\N,Unknown significance,\N,missense_variant,34,0.000133333,EXAC_EAS_AF,OTOF
428815,2:26699859:C>T,NM_194248.2:c.2576G>A,NP_919224.1:p.Arg859His,22/47,\N,Unknown significance,\N,missense_variant,34,0.0000511963,EXAC_NFE_AF,OTOF
428816,2:26699860:G>A,NM_194248.2:c.2575C>T,NP_919224.1:p.Arg859Cys,22/47,\N,Unknown significance,\N,missense_variant,35,0.000232937,EVS_EA_AF,OTOF
428817,2:26699860:G>T,NM_001287489.1:c.2575C>A,NP_001274418.1:p.Arg859Ser,22/46,\N,Unknown significance,\N,missense_variant,33,0.0000671141,EXAC_SAS_AF,OTOF
428818,2:26699864:G>A,NM_194248.2:c.2571C>T,NP_919224.1:p.Asn857=,22/47,\N,Unknown significance,\N,synonymous_variant,10.3,0.00006744,EXAC_SAS_AF,OTOF
428819,2:26699868:T>A,NM_001287489.1:c.2567A>T,NP_001274418.1:p.Asn856Ile,22/46,\N,Unknown significance,\N,missense_variant,27.1,0.000869061,EXAC_EAS_AF,OTOF
428820,2:26699869:T>G,NM_194248.2:c.2566A>C,NP_919224.1:p.Asn856His,22/47,\N,Unknown significance,\N,missense_variant,26.1,0.0000182588,EXAC_NFE_AF,OTOF
428821,2:26699876:C>G,NM_194248.2:c.2559G>C,NP_919224.1:p.Met853Ile,22/47,\N,Unknown significance,\N,missense_variant,27.6,0.000071286,EXAC_SAS_AF,OTOF
428822,2:26699878:T>A,NM_194248.2:c.2557A>T,NP_919224.1:p.Met853Leu,22/47,\N,Unknown significance,\N,missense_variant,22.8,0.0000197465,EXAC_NFE_AF,OTOF
428823,2:26699878:T>TA,NM_194248.2:c.2556_2557insT,NP_919224.1:p.Met853TyrfsTer40,22/47,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,OTOF
428824,2:26699879:C>A,NM_194248.2:c.2556G>T,NP_919224.1:p.Trp852Cys,22/47,\N,Unknown significance,\N,missense_variant,34,0.0000199696,EXAC_NFE_AF,OTOF
428825,2:26699884:T>A,NM_194322.2:c.481A>T,NP_919303.1:p.Ile161Phe,4/29,\N,Unknown significance,\N,missense_variant,27,0.0000634142,EXAC_NFE_AF,OTOF
428826,2:26699893:C>T,NM_194248.2:c.2542G>A,NP_919224.1:p.Asp848Asn,22/47,\N,Unknown significance,\N,missense_variant,33,0.0038,1KG_AFR_AF,OTOF
428827,2:26699912:C>A,NM_194248.2:c.2524-1G>T,\N,\N,21/46,Unknown significance,\N,splice_acceptor_variant,24.7,\N,\N,OTOF
428828,2:26699913:T>TG,NM_194248.2:c.2524-3dup,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,12.84,0.0000522739,EXAC_NFE_AF,OTOF
428829,2:26699913:T>G,NM_194248.2:c.2524-2A>C,\N,\N,21/46,Unknown significance,\N,splice_acceptor_variant,24.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428830,2:26699914:G>C,NM_194248.2:c.2524-3C>G,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,10.83,\N,\N,OTOF
428831,2:26699916:G>C,NM_194248.2:c.2524-5C>G,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,0.258,0.000511771,EXAC_AMR_AF,OTOF
428832,2:26699916:G>T,NM_194248.2:c.2524-5C>A,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,0.753,0.000511771,EXAC_AMR_AF,OTOF
428833,2:26699920:T>G,NM_194248.2:c.2524-9A>C,\N,\N,21/46,Unknown significance,\N,intron_variant,1.591,0.0025,OTO_AJ_AF|OTO_JP_AF,OTOF
428834,2:26699922:G>T,NM_194248.2:c.2524-11C>A,\N,\N,21/46,Unknown significance,\N,intron_variant,2.166,\N,\N,OTOF
428835,2:26699924:G>C,NM_194248.2:c.2524-13C>G,\N,\N,21/46,Unknown significance,\N,intron_variant,0.066,0.000535906,EXAC_EAS_AF,OTOF
428836,2:26699925:G>A,NM_194248.2:c.2524-14C>T,\N,\N,21/46,Likely benign,\N,intron_variant,0.529,\N,\N,OTOF
428837,2:26699926:G>A,NM_194248.2:c.2524-15C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,2.738,0.000227118,EXAC_SAS_AF,OTOF
428838,2:26699927:T>G,NM_194248.2:c.2524-16A>C,\N,\N,21/46,Unknown significance,\N,intron_variant,6.329,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428839,2:26699928:G>A,NM_194248.2:c.2524-17C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,4.457,0.0000722752,EXAC_NFE_AF,OTOF
428840,2:26699929:G>A,NM_194248.2:c.2524-18C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,5.361,0.000233973,EVS_AA_AF,OTOF
428841,2:26699931:CA>C,NM_194248.2:c.2524-21del,\N,\N,21/46,Unknown significance,\N,intron_variant,9.548,0.00101729,EXAC_EAS_AF,OTOF
428842,2:26699932:A>G,NM_194248.2:c.2524-21T>C,\N,\N,21/46,Unknown significance,\N,intron_variant,8.199,0.003125,OTO_CO_AF,OTOF
428843,2:26699947:G>A,NM_194248.2:c.2524-36C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,5.23,\N,\N,OTOF
428844,2:26699948:G>A,NM_194248.2:c.2524-37C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,2.166,0.000224618,EXAC_SAS_AF,OTOF
428845,2:26699952:T>G,NM_194248.2:c.2524-41A>C,\N,\N,21/46,Unknown significance,\N,intron_variant,5.037,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428846,2:26699956:G>GCCT,NM_194248.2:c.2524-48_2524-46dup,\N,\N,21/46,Unknown significance,\N,intron_variant,8.351,0.00135135,EXAC_FIN_AF,OTOF
428847,2:26699961:C>T,NM_194248.2:c.2524-50G>A,\N,\N,21/46,Unknown significance,\N,intron_variant,4.002,0.000369004,EXAC_EAS_AF,OTOF
428848,2:26699962:T>C,NM_194248.2:c.2524-51A>G,\N,\N,21/46,Unknown significance,\N,intron_variant,4.418,0.0008,1KG_AFR_AF,OTOF
428849,2:26699985:G>A,NM_194248.2:c.2523+55C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,2.593,0.001,1KG_SAS_AF,OTOF
428850,2:26700001:GC>G,NM_194248.2:c.2523+38del,\N,\N,21/46,Unknown significance,\N,intron_variant,2.356,0.000102733,EXAC_AMR_AF,OTOF
428851,2:26700002:C>T,NM_194248.2:c.2523+38G>A,\N,\N,21/46,Unknown significance,\N,intron_variant,2.706,0.000071449,EXAC_SAS_AF,OTOF
428852,2:26700003:C>A,NM_194248.2:c.2523+37G>T,\N,\N,21/46,Unknown significance,\N,intron_variant,6.71,0.0000359183,EXAC_NFE_AF,OTOF
428853,2:26700003:C>T,NM_194248.2:c.2523+37G>A,\N,\N,21/46,Unknown significance,\N,intron_variant,6.416,0.001,1KG_EAS_AF,OTOF
428854,2:26700004:C>A,NM_194248.2:c.2523+36G>T,\N,\N,21/46,Unknown significance,\N,intron_variant,4.82,0.000102438,EXAC_AMR_AF,OTOF
428855,2:26700004:C>G,NM_194248.2:c.2523+36G>C,\N,\N,21/46,Unknown significance,\N,intron_variant,3.428,0.0000179501,EXAC_NFE_AF,OTOF
428856,2:26700005:T>C,NM_194248.2:c.2523+35A>G,\N,\N,21/46,Unknown significance,\N,intron_variant,3.844,0.000132415,EXAC_EAS_AF,OTOF
428857,2:26700008:A>G,NM_194248.2:c.2523+32T>C,\N,\N,21/46,Unknown significance,\N,intron_variant,3.145,0.0000712251,EXAC_SAS_AF,OTOF
428858,2:26700014:C>A,NM_194248.2:c.2523+26G>T,\N,\N,21/46,Unknown significance,\N,intron_variant,2.909,0.00011655,EVS_EA_AF,OTOF
428859,2:26700023:G>A,NM_194248.2:c.2523+17C>T,\N,\N,21/46,Unknown significance,\N,intron_variant,0.391,0.001,1KG_EUR_AF,OTOF
428860,2:26700026:C>T,NM_194248.2:c.2523+14G>A,\N,\N,21/46,Unknown significance,\N,intron_variant,0.967,0.001,1KG_SAS_AF,OTOF
428861,2:26700028:C>T,NM_194248.2:c.2523+12G>A,\N,\N,21/46,Unknown significance,\N,intron_variant,2.752,0.0000176081,EXAC_NFE_AF,OTOF
428862,2:26700035:C>T,NM_194248.2:c.2523+5G>A,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,9.356,0.001,1KG_EAS_AF,OTOF
428863,2:26700036:G>A,NM_194248.2:c.2523+4C>T,\N,\N,21/46,Unknown significance,\N,splice_region_variant&intron_variant,3.651,0.000141163,EXAC_SAS_AF,OTOF
428864,2:26700042:C>T,NM_194322.2:c.451G>A,NP_919303.1:p.Glu151Lys,3/29,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.8,0.000386299,EXAC_EAS_AF,OTOF
428865,2:26700043:G>A,NM_194248.2:c.2520C>T,NP_919224.1:p.Asp840=,21/47,\N,Unknown significance,\N,synonymous_variant,4.651,0.000191138,EXAC_NFE_AF,OTOF
428866,2:26700045:C>T,NM_194322.2:c.448G>A,NP_919303.1:p.Asp150Asn,3/29,\N,Unknown significance,\N,missense_variant,23.8,0.0000173455,EXAC_NFE_AF,OTOF
428867,2:26700046:C>T,NM_194248.2:c.2517G>A,NP_919224.1:p.Ala839=,21/47,\N,Unknown significance,\N,synonymous_variant,10.86,0.00145349,EXAC_OTH_AF,OTOF
428868,2:26700047:G>A,NM_194248.2:c.2516C>T,NP_919224.1:p.Ala839Val,21/47,\N,Unknown significance,\N,missense_variant,14.48,0.0015,1KG_AFR_AF,OTOF
428869,2:26700051:G>A,NM_194248.2:c.2512C>T,NP_919224.1:p.Leu838=,21/47,\N,Benign,\N,synonymous_variant,9.534,0.00601315,EXAC_SAS_AF,OTOF
428870,2:26700055:G>A,NM_194248.2:c.2508C>T,NP_919224.1:p.Arg836=,21/47,\N,Unknown significance,\N,synonymous_variant,11.56,0.0000992063,EXAC_AMR_AF,OTOF
428871,2:26700056:C>T,NM_194248.2:c.2507G>A,NP_919224.1:p.Arg836His,21/47,\N,Unknown significance,\N,missense_variant,35,0.00147747,EXAC_AFR_AF,OTOF
428872,2:26700057:G>A,NM_194248.2:c.2506C>T,NP_919224.1:p.Arg836Cys,21/47,\N,Unknown significance,\N,missense_variant,35,0.000140351,EXAC_SAS_AF,OTOF
428873,2:26700063:T>G,NM_194248.2:c.2500A>C,NP_919224.1:p.Lys834Gln,21/47,\N,Unknown significance,\N,missense_variant,23.6,0.0000172509,EXAC_NFE_AF,OTOF
428874,2:26700065:T>A,NM_194248.2:c.2498A>T,NP_919224.1:p.Gln833Leu,21/47,\N,Unknown significance,\N,missense_variant,22.9,0.00437318,EXAC_OTH_AF,OTOF
428875,2:26700078:G>A,NM_194248.2:c.2485C>T,NP_919224.1:p.Gln829Ter,21/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,38,0.0014,1KG_AMR_AF,OTOF
428876,2:26700079:G>A,NM_194248.2:c.2484C>T,NP_919224.1:p.Cys828=,21/47,\N,Unknown significance,\N,synonymous_variant,9.949,0.00010101,EXAC_AMR_AF,OTOF
428877,2:26700098:C>T,NM_194248.2:c.2465G>A,NP_919224.1:p.Arg822Gln,21/47,\N,Unknown significance,\N,missense_variant,26.5,0.002,1KG_EAS_AF,OTOF
428878,2:26700099:G>A,NM_194248.2:c.2464C>T,NP_919224.1:p.Arg822Trp,21/47,\N,Benign*,\N,missense_variant,32,0.0293983,EXAC_FIN_AF,OTOF
428879,2:26700100:C>A,NM_194248.2:c.2463G>T,NP_919224.1:p.Val821=,21/47,\N,Unknown significance,\N,synonymous_variant,16.03,\N,\N,OTOF
428880,2:26700101:A>C,NM_004802.3:c.221T>G,NP_004793.2:p.Val74Gly,4/30,\N,Unknown significance,\N,missense_variant,23.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428881,2:26700103:C>A,NM_194248.2:c.2460G>T,NP_919224.1:p.Thr820=,21/47,\N,Unknown significance,\N,synonymous_variant,22.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428882,2:26700104:G>A,NM_194248.2:c.2459C>T,NP_919224.1:p.Thr820Met,21/47,\N,Unknown significance,\N,missense_variant,28.6,0.000104058,EXAC_AMR_AF,OTOF
428883,2:26700106:G>A,NM_194248.2:c.2457C>T,NP_919224.1:p.His819=,21/47,\N,Unknown significance,\N,synonymous_variant,8.003,0.0000354359,EXAC_NFE_AF,OTOF
428884,2:26700110:C>T,NM_194248.2:c.2453G>A,NP_919224.1:p.Arg818Gln,21/47,\N,Benign,\N,missense_variant,25.5,0.00833333,OTO_ES_AF,OTOF
428885,2:26700111:G>A,NM_004802.3:c.211C>T,NP_004793.2:p.Arg71Trp,4/30,\N,Benign,\N,missense_variant,29.8,0.0075,OTO_JP_AF,OTOF
428886,2:26700116:A>C,NM_194322.2:c.377T>G,NP_919303.1:p.Val126Gly,3/29,\N,Unknown significance,\N,missense_variant,19.88,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428887,2:26700117:C>T,NM_194322.2:c.376G>A,NP_919303.1:p.Val126Met,3/29,\N,Unknown significance,\N,missense_variant,25.1,0.000105441,EXAC_AMR_AF,OTOF
428888,2:26700118:C>T,NM_194248.2:c.2445G>A,NP_919224.1:p.Gln815=,21/47,\N,Unknown significance,\N,synonymous_variant,11.6,0.0000178878,EXAC_NFE_AF,OTOF
428889,2:26700125:C>T,NM_194322.2:c.368G>A,NP_919303.1:p.Arg123Gln,3/29,\N,Unknown significance,\N,missense_variant,23.6,0.0000726956,EXAC_SAS_AF,OTOF
428890,2:26700126:G>A,NM_194248.2:c.2437C>T,NP_919224.1:p.Arg813Trp,21/47,\N,Unknown significance,\N,missense_variant,32,0.0000723144,EXAC_NFE_AF,OTOF
428891,2:26700134:C>G,NM_194248.2:c.2429G>C,NP_919224.1:p.Arg810Thr,21/47,\N,Likely benign,\N,missense_variant,9.783,0.001,1KG_EUR_AF,OTOF
428892,2:26700137:G>A,NM_194322.2:c.356C>T,NP_919303.1:p.Ala119Val,3/29,\N,Unknown significance,\N,missense_variant,23.7,0.000132873,EXAC_EAS_AF,OTOF
428893,2:26700141:G>A,NM_194248.2:c.2422C>T,NP_919224.1:p.Gln808Ter,21/47,\N,Unknown significance,\N,stop_gained,37,\N,\N,OTOF
428894,2:26700144:G>T,NM_194248.2:c.2419C>A,NP_919224.1:p.Gln807Lys,21/47,\N,Unknown significance,\N,missense_variant,1.701,0.0000906257,EXAC_NFE_AF,OTOF
428895,2:26700156:C>T,NM_004802.3:c.166G>A,NP_004793.2:p.Glu56Lys,4/30,\N,Unknown significance,\N,missense_variant&splice_region_variant,18.67,0.0000182209,EXAC_NFE_AF,OTOF
428896,2:26700160:CGAAGGAGGGGGTGT>C,NM_194248.2:c.2407-18_2407-5del,\N,\N,20/46,Unknown significance,\N,splice_region_variant&intron_variant,5.665,0.000018313,EXAC_NFE_AF,OTOF
428897,2:26700160:C>T,NM_194248.2:c.2407-4G>A,\N,\N,20/46,Unknown significance,\N,splice_region_variant&intron_variant,2.887,0.00027115,EXAC_EAS_AF,OTOF
428898,2:26700160:C>A,NM_194248.2:c.2407-4G>T,\N,\N,20/46,Unknown significance,\N,splice_region_variant&intron_variant,3.282,0.0000732172,EXAC_SAS_AF,OTOF
428899,2:26700161:G>A,NM_194248.2:c.2407-5C>T,\N,\N,20/46,Unknown significance,\N,splice_region_variant&intron_variant,1.328,0.000548727,EXAC_AMR_AF,OTOF
428900,2:26700165:G>T,NM_194248.2:c.2407-9C>A,\N,\N,20/46,Unknown significance,\N,intron_variant,3.372,0.000054933,EXAC_NFE_AF,OTOF
428901,2:26700166:A>T,NM_194248.2:c.2407-10T>A,\N,\N,20/46,Unknown significance,\N,intron_variant,4.541,0.0000550378,EXAC_NFE_AF,OTOF
428902,2:26700166:AG>A,NM_194248.2:c.2407-11del,\N,\N,20/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
428903,2:26700170:G>A,NM_194248.2:c.2407-14C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,3.597,0.000073346,EXAC_SAS_AF,OTOF
428904,2:26700173:G>A,NM_194248.2:c.2407-17C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,3.656,0.00299791,EXAC_AFR_AF,OTOF
428905,2:26700174:T>C,NM_194248.2:c.2407-18A>G,\N,\N,20/46,Unknown significance,\N,intron_variant,1.29,0.0000732815,EXAC_SAS_AF,OTOF
428906,2:26700174:T>TCC,NM_194248.2:c.2407-19_2407-18insGG,\N,\N,20/46,Unknown significance,\N,intron_variant,1.709,0.000018379,EXAC_NFE_AF,OTOF
428907,2:26700178:T>C,NM_194248.2:c.2407-22A>G,\N,\N,20/46,Unknown significance,\N,intron_variant,0.182,0.0000184318,EXAC_NFE_AF,OTOF
428908,2:26700187:C>A,NM_194248.2:c.2407-31G>T,\N,\N,20/46,Unknown significance,\N,intron_variant,4.476,0.000074206,EXAC_NFE_AF,OTOF
428909,2:26700193:G>A,NM_194248.2:c.2407-37C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,7.809,0.0000186916,EXAC_NFE_AF,OTOF
428910,2:26700198:C>T,NM_194248.2:c.2407-42G>A,\N,\N,20/46,Unknown significance,\N,intron_variant,10.7,0.0000190027,EXAC_NFE_AF,OTOF
428911,2:26700199:A>G,NM_194248.2:c.2407-43T>C,\N,\N,20/46,Unknown significance,\N,intron_variant,10.97,\N,\N,OTOF
428912,2:26700201:C>T,NM_194248.2:c.2407-45G>A,\N,\N,20/46,Unknown significance,\N,intron_variant,11.44,0.000229568,EVS_AA_AF,OTOF
428913,2:26700204:G>A,NM_194248.2:c.2407-48C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,2.267,0.0041,1KG_SAS_AF,OTOF
428914,2:26700217:G>C,NM_194248.2:c.2407-61C>G,\N,\N,20/46,Unknown significance,\N,intron_variant,0.62,0.001,1KG_EUR_AF,OTOF
428915,2:26700236:C>T,NM_194248.2:c.2406+48G>A,\N,\N,20/46,Unknown significance,\N,intron_variant,4.269,0.001,1KG_EAS_AF,OTOF
428916,2:26700237:A>T,NM_194248.2:c.2406+47T>A,\N,\N,20/46,Unknown significance,\N,intron_variant,4.799,0.000340368,EXAC_EAS_AF,OTOF
428917,2:26700241:C>G,NM_194248.2:c.2406+43G>C,\N,\N,20/46,Unknown significance,\N,intron_variant,4.325,0.0000432339,EXAC_NFE_AF,OTOF
428918,2:26700244:G>A,NM_194248.2:c.2406+40C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,4.082,0.0008,1KG_AFR_AF,OTOF
428919,2:26700248:C>T,NM_194248.2:c.2406+36G>A,\N,\N,20/46,Benign,\N,intron_variant,9.462,0.240472,EXAC_FIN_AF,OTOF
428920,2:26700255:C>T,NM_194248.2:c.2406+29G>A,\N,\N,20/46,Unknown significance,\N,intron_variant,2.044,0.000110644,EXAC_SAS_AF,OTOF
428921,2:26700257:G>A,NM_194248.2:c.2406+27C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,2.119,0.0015,1KG_AFR_AF,OTOF
428922,2:26700259:C>G,NM_194248.2:c.2406+25G>C,\N,\N,20/46,Unknown significance,\N,intron_variant,4.536,\N,\N,OTOF
428923,2:26700260:C>A,NM_194248.2:c.2406+24G>T,\N,\N,20/46,Unknown significance,\N,intron_variant,5.91,0.00118203,EXAC_FIN_AF,OTOF
428924,2:26700263:G>A,NM_194248.2:c.2406+21C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,5.272,0.000248756,EXAC_AFR_AF,OTOF
428925,2:26700265:C>T,NM_194248.2:c.2406+19G>A,\N,\N,20/46,Unknown significance,\N,intron_variant,0.92,0.0041,1KG_SAS_AF,OTOF
428926,2:26700266:G>A,NM_194248.2:c.2406+18C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,1.464,0.0000510465,EXAC_NFE_AF,OTOF
428927,2:26700271:G>C,NM_194248.2:c.2406+13C>G,\N,\N,20/46,Unknown significance,\N,intron_variant,6.095,0.000116632,EVS_EA_AF,OTOF
428928,2:26700274:G>A,NM_194248.2:c.2406+10C>T,\N,\N,20/46,Unknown significance,\N,intron_variant,7.45,0.000116604,EVS_EA_AF,OTOF
428929,2:26700275:C>T,NM_194248.2:c.2406+9G>A,\N,\N,20/46,Likely benign,\N,intron_variant,6.351,0.0000490148,EXAC_NFE_AF,OTOF
428930,2:26700276:G>A,NM_194248.2:c.2406+8C>T,\N,\N,20/46,Unknown significance,\N,splice_region_variant&intron_variant,9.88,\N,\N,OTOF
428931,2:26700288:TC>AA,NM_194248.2:c.2401_2402delinsTT,NP_919224.1:p.Glu801Leu,20/47,\N,Benign,\N,missense_variant,28.9,\N,\N,OTOF
428932,2:26700288:T>A,NM_194248.2:c.2402A>T,NP_919224.1:p.Glu801Val,20/47,\N,Benign,\N,missense_variant,32,0.154891,EXAC_AFR_AF,OTOF
428933,2:26700289:C>A,NM_194248.2:c.2401G>T,NP_919224.1:p.Glu801Ter,20/47,\N,Benign,\N,stop_gained,41,0.155352,EXAC_AFR_AF,OTOF
428934,2:26700297:C>A,NM_001287489.1:c.2393G>T,NP_001274418.1:p.Cys798Phe,20/46,\N,Unknown significance,\N,missense_variant,33,0.0003885,EXAC_AMR_AF,OTOF
428935,2:26700309:C>T,NM_194248.2:c.2381G>A,NP_919224.1:p.Arg794His,20/47,\N,Benign*,\N,missense_variant,35,0.0089,1KG_EUR_AF,OTOF
428936,2:26700310:G>A,NM_194248.2:c.2380C>T,NP_919224.1:p.Arg794Cys,20/47,\N,Unknown significance,\N,missense_variant,33,0.000102103,EXAC_SAS_AF,OTOF
428937,2:26700314:C>T,NM_194248.2:c.2376G>A,NP_919224.1:p.Arg792=,20/47,\N,Unknown significance,\N,synonymous_variant,17.52,0.000233209,EVS_EA_AF,OTOF
428938,2:26700315:C>T,NM_194322.2:c.305G>A,NP_919303.1:p.Arg102Gln,2/29,\N,Benign,\N,missense_variant,24.7,0.00822123,EXAC_AFR_AF,OTOF
428939,2:26700315:C>G,NM_004802.3:c.134G>C,NP_004793.2:p.Arg45Pro,3/30,\N,Unknown significance,\N,missense_variant,25.9,0.0000351593,EXAC_NFE_AF,OTOF
428940,2:26700316:G>A,NM_194248.2:c.2374C>T,NP_919224.1:p.Arg792Trp,20/47,\N,Unknown significance,\N,missense_variant,33,0.00438048,EXAC_FIN_AF,OTOF
428941,2:26700317:G>GT,NM_194248.2:c.2372dup,NP_919224.1:p.Asp791GlufsTer102,20/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,frameshift_variant,\N,\N,\N,OTOF
428942,2:26700319:C>CT,NM_194248.2:c.2370_2371insA,NP_919224.1:p.Asp791ArgfsTer102,20/47,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,OTOF
428943,2:26700326:G>A,NM_194248.2:c.2364C>T,NP_919224.1:p.Thr788=,20/47,\N,Unknown significance,\N,synonymous_variant,11.11,0.000193349,EXAC_SAS_AF,OTOF
428944,2:26700329:G>A,NM_194248.2:c.2361C>T,NP_919224.1:p.Arg787=,20/47,\N,Unknown significance,\N,synonymous_variant,9.78,0.000154083,EXAC_NFE_AF,OTOF
428945,2:26700330:C>A,NM_194248.2:c.2360G>T,NP_919224.1:p.Arg787Leu,20/47,\N,Unknown significance,\N,missense_variant,23.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428946,2:26700331:G>A,NM_194248.2:c.2359C>T,NP_919224.1:p.Arg787Cys,20/47,\N,Unknown significance,\N,missense_variant,24.7,0.0008,1KG_AFR_AF,OTOF
428947,2:26700336:G>A,NM_194248.2:c.2354C>T,NP_919224.1:p.Ser785Leu,20/47,\N,Likely benign,\N,missense_variant,13.1,0.000647948,EXAC_EAS_AF,OTOF
428948,2:26700339:T>A,NM_194248.2:c.2351A>T,NP_919224.1:p.His784Leu,20/47,\N,Likely benign,\N,missense_variant,12.65,0.0000296912,EXAC_NFE_AF,OTOF
428949,2:26700341:GC>G,NM_194248.2:c.2348del,NP_919224.1:p.Gly783AlafsTer17,20/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,34,0.000172592,EXAC_AFR_AF,OTOF
428950,2:26700358:C>A,NM_194248.2:c.2332G>T,NP_919224.1:p.Ala778Ser,20/47,\N,Likely benign,\N,missense_variant,21.9,0.0000570483,EXAC_NFE_AF,OTOF
428951,2:26700358:C>T,NM_194248.2:c.2332G>A,NP_919224.1:p.Ala778Thr,20/47,\N,Unknown significance,\N,missense_variant,25.2,0.0000570483,EXAC_NFE_AF,OTOF
428952,2:26700359:G>A,NM_194248.2:c.2331C>T,NP_919224.1:p.Leu777=,20/47,\N,Unknown significance,\N,synonymous_variant,10.45,0.000169319,EXAC_AFR_AF,OTOF
428953,2:26700364:A>C,NM_194248.2:c.2326T>G,NP_919224.1:p.Ser776Ala,20/47,\N,Unknown significance,\N,missense_variant,16.46,0.000168294,EXAC_AFR_AF,OTOF
428954,2:26700372:C>T,NM_194248.2:c.2318G>A,NP_919224.1:p.Arg773His,20/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.4,0.0002079,EXAC_AMR_AF,OTOF
428955,2:26700373:G>A,NM_194248.2:c.2317C>T,NP_919224.1:p.Arg773Cys,20/47,\N,Benign,\N,missense_variant&splice_region_variant,33,0.075,OTO_TR_AF,OTOF
428956,2:26700374:G>T,NM_194248.2:c.2316C>A,NP_919224.1:p.Cys772Ter,20/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained&splice_region_variant,36,\N,\N,OTOF
428957,2:26700378:G>T,NM_194248.2:c.2316-4C>A,\N,\N,19/46,Likely benign,\N,splice_region_variant&intron_variant,1.322,\N,\N,OTOF
428958,2:26700379:G>T,NM_194248.2:c.2316-5C>A,\N,\N,19/46,Unknown significance,\N,splice_region_variant&intron_variant,5.437,0.000116768,EVS_EA_AF,OTOF
428959,2:26700380:G>A,NM_194248.2:c.2316-6C>T,\N,\N,19/46,Unknown significance,\N,splice_region_variant&intron_variant,6.288,\N,\N,OTOF
428960,2:26700382:T>G,NM_194248.2:c.2316-8A>C,\N,\N,19/46,Benign,\N,splice_region_variant&intron_variant,3.059,0.046875,OTO_US_AF,OTOF
428961,2:26700387:C>T,NM_194248.2:c.2316-13G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,2.107,0.0008,1KG_AFR_AF,OTOF
428962,2:26700388:G>A,NM_194248.2:c.2316-14C>T,\N,\N,19/46,Unknown significance,\N,intron_variant,2.504,0.000116904,EVS_EA_AF,OTOF
428963,2:26700389:A>T,NM_194248.2:c.2316-15T>A,\N,\N,19/46,Unknown significance,\N,intron_variant,3.548,0.001,1KG_EAS_AF,OTOF
428964,2:26700392:C>T,NM_194248.2:c.2316-18G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,0.585,0.000412882,EXAC_AMR_AF,OTOF
428965,2:26700393:G>A,NM_194248.2:c.2316-19C>T,\N,\N,19/46,Unknown significance,\N,intron_variant,1.167,0.0002145,EXAC_EAS_AF,OTOF
428966,2:26700401:G>A,NM_194248.2:c.2316-27C>T,\N,\N,19/46,Unknown significance,\N,intron_variant,6.838,0.000170358,EXAC_AFR_AF,OTOF
428967,2:26700402:C>T,NM_194248.2:c.2316-28G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,6.812,0.0000882145,EXAC_SAS_AF,OTOF
428968,2:26700403:G>A,NM_194248.2:c.2316-29C>T,\N,\N,19/46,Benign,\N,intron_variant,5.356,0.0164,1KG_SAS_AF,OTOF
428969,2:26700403:G>T,NM_194248.2:c.2316-29C>A,\N,\N,19/46,Unknown significance,\N,intron_variant,3.098,0.000230203,EVS_AA_AF,OTOF
428970,2:26700406:C>A,NM_194248.2:c.2316-32G>T,\N,\N,19/46,Unknown significance,\N,intron_variant,7.994,0.0000281136,EXAC_NFE_AF,OTOF
428971,2:26700416:A>AG,NM_194248.2:c.2316-43dup,\N,\N,19/46,Unknown significance,\N,intron_variant,3.467,0.000110509,EXAC_NFE_AF,OTOF
428972,2:26700418:G>T,NM_194248.2:c.2316-44C>A,\N,\N,19/46,Benign,\N,intron_variant,5.093,0.00599002,EXAC_AFR_AF,OTOF
428973,2:26700422:T>C,NM_194248.2:c.2316-48A>G,\N,\N,19/46,Unknown significance,\N,intron_variant,4.351,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
428974,2:26700433:T>C,NM_194248.2:c.2316-59A>G,\N,\N,19/46,Benign,\N,intron_variant,3.024,0.0069,1KG_EAS_AF,OTOF
428975,2:26700444:C>T,NM_194248.2:c.2316-70G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,8.837,0.0029,1KG_AMR_AF,OTOF
428976,2:26700449:C>G,NM_194248.2:c.2315+68G>C,\N,\N,19/46,Unknown significance,\N,intron_variant,6.032,\N,\N,OTOF
428977,2:26700477:C>T,NM_194248.2:c.2315+40G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,1.655,0.00122549,EXAC_OTH_AF,OTOF
428978,2:26700478:G>A,NM_194248.2:c.2315+39C>T,\N,\N,19/46,Unknown significance,\N,intron_variant,0.988,0.0000626331,EXAC_SAS_AF,OTOF
428979,2:26700484:T>C,NM_194248.2:c.2315+33A>G,\N,\N,19/46,Unknown significance,\N,intron_variant,2.122,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428980,2:26700487:T>C,NM_194248.2:c.2315+30A>G,\N,\N,19/46,Benign,\N,intron_variant,3.045,0.02,OTO_TR_AF,OTOF
428981,2:26700488:C>T,NM_194248.2:c.2315+29G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,3.944,0.0000621891,EXAC_SAS_AF,OTOF
428982,2:26700492:C>A,NM_194248.2:c.2315+25G>T,\N,\N,19/46,Unknown significance,\N,intron_variant,7.442,0.0000165273,EXAC_NFE_AF,OTOF
428983,2:26700493:C>A,NM_194248.2:c.2315+24G>T,\N,\N,19/46,Unknown significance,\N,intron_variant,4.63,0.000123092,EXAC_SAS_AF,OTOF
428984,2:26700493:C>G,NM_194248.2:c.2315+24G>C,\N,\N,19/46,Unknown significance,\N,intron_variant,1.766,0.0000988761,EXAC_NFE_AF,OTOF
428985,2:26700493:C>T,NM_194248.2:c.2315+24G>A,\N,\N,19/46,Benign,\N,intron_variant,4.291,0.105,OTO_TR_AF,OTOF
428986,2:26700494:A>C,NM_194248.2:c.2315+23T>G,\N,\N,19/46,Benign,\N,intron_variant,3.072,0.02,OTO_TR_AF,OTOF
428987,2:26700498:G>A,NM_194248.2:c.2315+19C>T,\N,\N,19/46,Unknown significance,\N,intron_variant,1.665,0.000081412,EXAC_NFE_AF,OTOF
428988,2:26700499:C>A,NM_194248.2:c.2315+18G>T,\N,\N,19/46,Unknown significance,\N,intron_variant,5.666,0.000122594,EXAC_SAS_AF,OTOF
428989,2:26700500:C>T,NM_194248.2:c.2315+17G>A,\N,\N,19/46,Unknown significance,\N,intron_variant,5,0.000229253,EVS_AA_AF,OTOF
428990,2:26700501:G>A,NM_194248.2:c.2315+16C>T,\N,\N,19/46,Benign,\N,intron_variant,2.715,0.1362,1KG_AFR_AF,OTOF
428991,2:26700515:A>C,NM_194248.2:c.2315+2T>G,\N,\N,19/46,Unknown significance,\N,splice_donor_variant,22.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
428992,2:26700518:A>G,NM_194248.2:c.2314T>C,NP_919224.1:p.Cys772Arg,19/47,\N,Likely benign,\N,missense_variant&splice_region_variant,0.163,0.0000158519,EXAC_NFE_AF,OTOF
428993,2:26700530:TCA>T,NM_194248.2:c.2300_2301del,NP_919224.1:p.Leu767GlnfsTer12,19/47,\N,Unknown significance,\N,frameshift_variant,35,0.000116523,EXAC_EAS_AF,OTOF
428994,2:26700533:GCTC>G,NM_194248.2:c.2296_2298del,NP_919224.1:p.Glu766del,19/47,\N,Pathogenic,Deafness| autosomal recessive 9,inframe_deletion,22.9,\N,\N,OTOF
428995,2:26700537:C>T,NM_194248.2:c.2295G>A,NP_919224.1:p.Glu765=,19/47,\N,Unknown significance,\N,synonymous_variant,15.54,0.0000157119,EXAC_NFE_AF,OTOF
428996,2:26700540:C>T,NM_194248.2:c.2292G>A,NP_919224.1:p.Leu764=,19/47,\N,Unknown significance,\N,synonymous_variant,13.41,0.000116442,EXAC_EAS_AF,OTOF
428997,2:26700541:A>C,NM_004802.3:c.50T>G,NP_004793.2:p.Leu17Arg,2/30,\N,Unknown significance,\N,missense_variant,23.8,0.0000606722,EXAC_SAS_AF,OTOF
428998,2:26700544:A>G,NM_194322.2:c.218T>C,NP_919303.1:p.Val73Ala,1/29,\N,Unknown significance,\N,missense_variant,21.8,0.000455581,EVS_AA_AF,OTOF
428999,2:26700545:C>A,NM_004802.3:c.46G>T,NP_004793.2:p.Val16Phe,2/30,\N,Unknown significance,\N,missense_variant,26.4,0.0000156779,EXAC_NFE_AF,OTOF
429000,2:26700545:C>T,NM_194248.2:c.2287G>A,NP_919224.1:p.Val763Ile,19/47,\N,Unknown significance,\N,missense_variant,25.7,0.00230415,EXAC_OTH_AF,OTOF
429001,2:26700546:G>A,NM_194248.2:c.2286C>T,NP_919224.1:p.Gly762=,19/47,\N,Unknown significance,\N,synonymous_variant,15.52,0.000104866,EXAC_AFR_AF,OTOF
429002,2:26700546:G>C,NM_194248.2:c.2286C>G,NP_919224.1:p.Gly762=,19/47,\N,Unknown significance,\N,synonymous_variant,11.33,0.000209732,EXAC_AFR_AF,OTOF
429003,2:26700550:C>T,NM_194248.2:c.2282G>A,NP_919224.1:p.Arg761Gln,19/47,\N,Unknown significance,\N,missense_variant,29.1,0.000436072,EXAC_AMR_AF,OTOF
429004,2:26700551:G>A,NM_194248.2:c.2281C>T,NP_919224.1:p.Arg761Trp,19/47,\N,Unknown significance,\N,missense_variant,34,0.00011655,EVS_EA_AF,OTOF
429005,2:26700556:C>T,NM_194248.2:c.2276G>A,NP_919224.1:p.Arg759His,19/47,\N,Unknown significance,\N,missense_variant,34,0.000814711,EXAC_EAS_AF,OTOF
429006,2:26700557:G>A,NM_194248.2:c.2275C>T,NP_919224.1:p.Arg759Cys,19/47,\N,Unknown significance,\N,missense_variant,34,0.000116414,EXAC_EAS_AF,OTOF
429007,2:26700558:A>G,NM_194248.2:c.2274T>C,NP_919224.1:p.Arg758=,19/47,\N,Unknown significance,\N,synonymous_variant,8.391,0.0000606649,EXAC_SAS_AF,OTOF
429008,2:26700559:C>T,NM_194248.2:c.2273G>A,NP_919224.1:p.Arg758His,19/47,\N,Unknown significance,\N,missense_variant,35,0.000181995,EXAC_SAS_AF,OTOF
429009,2:26700560:G>A,NM_194248.2:c.2272C>T,NP_919224.1:p.Arg758Cys,19/47,\N,Unknown significance,\N,missense_variant,34,0.000116469,EVS_EA_AF,OTOF
429010,2:26700566:G>T,NM_194248.2:c.2266C>A,NP_919224.1:p.Pro756Thr,19/47,\N,Unknown significance,\N,missense_variant,23.5,0.0000311061,EXAC_NFE_AF,OTOF
429011,2:26700567:G>A,NM_194248.2:c.2265C>T,NP_919224.1:p.Tyr755=,19/47,\N,Unknown significance,\N,synonymous_variant,5.777,0.00004662,EXAC_NFE_AF,OTOF
429012,2:26700568:T>A,NM_194248.2:c.2264A>T,NP_919224.1:p.Tyr755Phe,19/47,\N,Likely benign,\N,missense_variant,14.42,0.0000871232,EXAC_AMR_AF,OTOF
429013,2:26700570:G>A,NM_194248.2:c.2262C>T,NP_919224.1:p.Ser754=,19/47,\N,Unknown significance,\N,synonymous_variant,10.67,0.000227376,EVS_AA_AF,OTOF
429014,2:26700577:T>C,NM_194248.2:c.2255A>G,NP_919224.1:p.Glu752Gly,19/47,\N,Unknown significance,\N,missense_variant,22.5,0.0000871688,EXAC_AMR_AF,OTOF
429015,2:26700579:C>T,NM_194248.2:c.2253G>A,NP_919224.1:p.Thr751=,19/47,\N,Unknown significance,\N,synonymous_variant,17.15,0.0014,1KG_AMR_AF,OTOF
429016,2:26700580:G>A,NM_194248.2:c.2252C>T,NP_919224.1:p.Thr751Met,19/47,\N,Unknown significance,\N,missense_variant,23.1,\N,\N,OTOF
429017,2:26700584:T>C,NM_194248.2:c.2248A>G,NP_919224.1:p.Lys750Glu,19/47,\N,Unknown significance,\N,missense_variant,21.7,0.001,1KG_EAS_AF,OTOF
429018,2:26700586:A>T,NM_004802.3:c.5T>A,NP_004793.2:p.Ile2Asn,2/30,\N,Unknown significance,\N,missense_variant,24.4,0.000116523,EVS_EA_AF,OTOF
429019,2:26700587:T>A,NM_194248.2:c.2245A>T,NP_919224.1:p.Ile749Phe,19/47,\N,Unknown significance,\N,missense_variant,24,0.000261597,EXAC_AMR_AF,OTOF
429020,2:26700589:A>G,NM_004802.3:c.2T>C,NP_004793.2:p.Met1?,2/30,\N,Unknown significance,\N,start_lost,17.52,0.001,1KG_SAS_AF,OTOF
429021,2:26700593:C>A,NM_194248.2:c.2239G>T,NP_919224.1:p.Glu747Ter,19/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,40,\N,\N,OTOF
429022,2:26700596:G>A,NM_194248.2:c.2236C>T,NP_919224.1:p.Gln746Ter,19/47,\N,Unknown significance,\N,stop_gained,38,0.0000609979,EXAC_SAS_AF,OTOF
429023,2:26700598:A>G,NM_194248.2:c.2234T>C,NP_919224.1:p.Ile745Thr,19/47,\N,Unknown significance,\N,missense_variant,18.53,0.000100381,EXAC_AFR_AF,OTOF
429024,2:26700602:C>T,NM_194248.2:c.2230G>A,NP_919224.1:p.Asp744Asn,19/47,\N,Unknown significance,\N,missense_variant,27.9,0.000151976,EXAC_FIN_AF,OTOF
429025,2:26700603:G>A,NM_194248.2:c.2229C>T,NP_919224.1:p.Asn743=,19/47,\N,Unknown significance,\N,synonymous_variant,10.96,0.000061237,EXAC_SAS_AF,OTOF
429026,2:26700605:T>C,NM_194322.2:c.157A>G,NP_919303.1:p.Asn53Asp,1/29,\N,Unknown significance,\N,missense_variant,15.86,0.000933489,EXAC_EAS_AF,OTOF
429027,2:26700614:C>T,NM_194322.2:c.148G>A,NP_919303.1:p.Glu50Lys,1/29,\N,Unknown significance,\N,missense_variant,25.1,0.0008,1KG_AFR_AF,OTOF
429028,2:26700631:G>A,NM_194322.2:c.131C>T,NP_919303.1:p.Thr44Ile,1/29,\N,Likely benign,\N,missense_variant,4.502,0.0000164859,EXAC_NFE_AF,OTOF
429029,2:26700633:G>A,NM_194322.2:c.129C>T,NP_919303.1:p.His43=,1/29,\N,Unknown significance,\N,synonymous_variant,2.724,0.000016737,EXAC_NFE_AF,OTOF
429030,2:26700635:G>C,NM_194322.2:c.127C>G,NP_919303.1:p.His43Asp,1/29,\N,Likely benign,\N,missense_variant,0.27,0.0000664452,EXAC_SAS_AF,OTOF
429031,2:26700636:G>C,NM_194322.2:c.126C>G,NP_919303.1:p.Thr42=,1/29,\N,Benign,\N,synonymous_variant,0.228,0.0101,1KG_AMR_AF,OTOF
429032,2:26700637:G>T,NM_194322.2:c.125C>A,NP_919303.1:p.Thr42Asn,1/29,\N,Likely benign,\N,missense_variant,2.543,0.0000348032,EXAC_NFE_AF,OTOF
429033,2:26700639:G>A,NM_194322.2:c.123C>T,NP_919303.1:p.Ile41=,1/29,\N,Unknown significance,\N,synonymous_variant,4.813,0.0000350435,EXAC_NFE_AF,OTOF
429034,2:26700644:T>C,NM_194322.2:c.118A>G,NP_919303.1:p.Ser40Gly,1/29,\N,Likely benign,\N,missense_variant,1.801,0.0000184488,EXAC_NFE_AF,OTOF
429035,2:26700649:C>T,NM_194322.2:c.113G>A,NP_919303.1:p.Trp38Ter,1/29,\N,Unknown significance,\N,stop_gained,4.537,0.0000199378,EXAC_NFE_AF,OTOF
429036,2:26700651:C>T,NM_194322.2:c.111G>A,NP_919303.1:p.Leu37=,1/29,\N,Unknown significance,\N,synonymous_variant,7.065,0.0000200827,EXAC_NFE_AF,OTOF
429037,2:26700654:C>T,NM_194322.2:c.108G>A,NP_919303.1:p.Gly36=,1/29,\N,Unknown significance,\N,synonymous_variant,5.183,0.00141243,EXAC_OTH_AF,OTOF
429038,2:26700655:C>G,NM_194322.2:c.107G>C,NP_919303.1:p.Gly36Ala,1/29,\N,Likely benign,\N,missense_variant,5.636,0.001,1KG_EAS_AF,OTOF
429039,2:26700657:C>T,NM_194322.2:c.105G>A,NP_919303.1:p.Ala35=,1/29,\N,Unknown significance,\N,synonymous_variant,6.359,0.000219748,EXAC_SAS_AF,OTOF
429040,2:26700658:G>A,NM_194322.2:c.104C>T,NP_919303.1:p.Ala35Val,1/29,\N,Likely benign,\N,missense_variant,6.223,0.0000935235,EXAC_NFE_AF,OTOF
429041,2:26700668:C>G,NM_194322.2:c.94G>C,NP_919303.1:p.Ala32Pro,1/29,\N,Likely benign,\N,missense_variant,3.641,\N,\N,OTOF
429042,2:26700676:A>G,NM_194322.2:c.86T>C,NP_919303.1:p.Phe29Ser,1/29,\N,Likely benign,\N,missense_variant,3.79,0.000051792,EXAC_NFE_AF,OTOF
429043,2:26700679:G>T,NM_194322.2:c.83C>A,NP_919303.1:p.Ala28Glu,1/29,\N,Likely benign,\N,missense_variant,2.983,0.001,1KG_SAS_AF,OTOF
429044,2:26700683:C>T,NM_194322.2:c.79G>A,NP_919303.1:p.Glu27Lys,1/29,\N,Likely benign,\N,missense_variant,7.775,0.000164636,EXAC_AFR_AF,OTOF
429045,2:26700688:C>T,NM_194322.2:c.74G>A,NP_919303.1:p.Arg25Lys,1/29,\N,Likely benign,\N,missense_variant,6.282,0.0000857045,EXAC_SAS_AF,OTOF
429046,2:26700694:A>C,NM_194322.2:c.68T>G,NP_919303.1:p.Ile23Ser,1/29,\N,Benign,\N,missense_variant,2.715,0.021875,OTO_CO_AF,OTOF
429047,2:26700697:A>G,NM_194322.2:c.65T>C,NP_919303.1:p.Leu22Pro,1/29,\N,Benign,\N,missense_variant,4.968,0.01,OTO_TR_AF,OTOF
429048,2:26700700:G>A,NM_194322.2:c.62C>T,NP_919303.1:p.Pro21Leu,1/29,\N,Benign,\N,missense_variant,1.757,0.987672,EXAC_EAS_AF,OTOF
429049,2:26700709:G>T,NM_194322.2:c.53C>A,NP_919303.1:p.Ser18Tyr,1/29,\N,Likely benign,\N,missense_variant,1.909,\N,\N,OTOF
429050,2:26700714:C>T,NM_194322.2:c.48G>A,NP_919303.1:p.Met16Ile,1/29,\N,Likely benign,\N,missense_variant,4.623,0.0000633072,EXAC_NFE_AF,OTOF
429051,2:26700731:C>T,NM_194322.2:c.31G>A,NP_919303.1:p.Glu11Lys,1/29,\N,Likely benign,\N,missense_variant,4.226,0.00127975,EXAC_SAS_AF,OTOF
429052,2:26700742:T>A,NM_194322.2:c.20A>T,NP_919303.1:p.Asp7Val,1/29,\N,Likely benign,\N,missense_variant,5.879,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,OTOF
429053,2:26700742:T>C,NM_194322.2:c.20A>G,NP_919303.1:p.Asp7Gly,1/29,\N,Likely benign,\N,missense_variant,2.578,0.00027894,EXAC_SAS_AF,OTOF
429054,2:26700750:A>G,NM_194322.2:c.12T>C,NP_919303.1:p.Asp4=,1/29,\N,Unknown significance,\N,synonymous_variant,4.273,0.000590319,EXAC_FIN_AF,OTOF
429055,2:26700753:G>A,NM_194322.2:c.9C>T,NP_919303.1:p.Thr3=,1/29,\N,Unknown significance,\N,synonymous_variant,1.196,\N,\N,OTOF
429056,2:26700757:A>T,NM_194322.2:c.5T>A,NP_919303.1:p.Met2Lys,1/29,\N,Likely benign,\N,missense_variant,1.204,0.00240964,EXAC_FIN_AF,OTOF
429057,2:26700769:T>C,NM_194248.2:c.2215-152A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,1.766,\N,\N,OTOF
429058,2:26700770:C>T,NM_194248.2:c.2215-153G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,2.541,\N,\N,OTOF
429059,2:26700772:T>C,NM_194248.2:c.2215-155A>G,\N,\N,18/46,Benign,\N,intron_variant,1.524,0.0137283,EXAC_SAS_AF,OTOF
429060,2:26700787:C>A,NM_194248.2:c.2215-170G>T,\N,\N,18/46,Unknown significance,\N,intron_variant,8.378,\N,\N,OTOF
429061,2:26700790:T>C,NM_194248.2:c.2215-173A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,2.587,0.0014,1KG_AMR_AF,OTOF
429062,2:26700799:C>G,NM_194248.2:c.2215-182G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,5.891,0.00235405,EXAC_SAS_AF,OTOF
429063,2:26700806:A>G,NM_194248.2:c.2215-189T>C,\N,\N,18/46,Unknown significance,\N,intron_variant,1.772,0.001,1KG_EUR_AF,OTOF
429064,2:26700819:TGG>T,NM_194248.2:c.2215-204_2215-203del,\N,\N,18/46,Benign,\N,intron_variant,8.573,0.9841,1KG_EAS_AF,OTOF
429065,2:26700819:T>C,NM_194248.2:c.2215-202A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,3.257,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429066,2:26700823:G>T,NM_194248.2:c.2215-206C>A,\N,\N,18/46,Benign,\N,intron_variant,4.986,0.0525,OTO_JP_AF,OTOF
429067,2:26700824:G>T,NM_194248.2:c.2215-207C>A,\N,\N,18/46,Benign,\N,intron_variant,5.912,0.0325,OTO_JP_AF,OTOF
429068,2:26700825:T>C,NM_194248.2:c.2215-208A>G,\N,\N,18/46,Benign,\N,intron_variant,6.359,0.015625,OTO_CO_AF,OTOF
429069,2:26700827:C>T,NM_194248.2:c.2215-210G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,12.03,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429070,2:26700846:A>C,NM_194248.2:c.2215-229T>G,\N,\N,18/46,Unknown significance,\N,intron_variant,10.71,0.002,1KG_SAS_AF,OTOF
429071,2:26700890:G>C,NM_194248.2:c.2215-273C>G,\N,\N,18/46,Unknown significance,\N,intron_variant,6.914,0.0008,1KG_AFR_AF,OTOF
429072,2:26700906:C>A,NM_194248.2:c.2215-289G>T,\N,\N,18/46,Unknown significance,\N,intron_variant,9.048,\N,\N,OTOF
429073,2:26700908:C>G,NM_194248.2:c.2215-291G>C,\N,\N,18/46,Benign,\N,intron_variant,7.064,0.9841,1KG_EAS_AF,OTOF
429074,2:26700911:C>G,NM_194248.2:c.2215-294G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,1.771,\N,\N,OTOF
429075,2:26700924:G>C,NM_194248.2:c.2215-307C>G,\N,\N,18/46,Benign,\N,intron_variant,0.422,0.015,OTO_TR_AF,OTOF
429076,2:26700924:G>T,NM_194248.2:c.2215-307C>A,\N,\N,18/46,Unknown significance,\N,intron_variant,0.736,\N,\N,OTOF
429077,2:26700932:A>G,NM_194248.2:c.2215-315T>C,\N,\N,18/46,Unknown significance,\N,intron_variant,7.95,\N,\N,OTOF
429078,2:26700972:C>G,NM_194248.2:c.2215-355G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,3.422,\N,\N,OTOF
429079,2:26700976:C>T,NM_194248.2:c.2215-359G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,4.226,\N,\N,OTOF
429080,2:26700977:G>A,NM_194248.2:c.2215-360C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,4.995,0.0014,1KG_AMR_AF,OTOF
429081,2:26700986:G>T,NM_194248.2:c.2215-369C>A,\N,\N,18/46,Unknown significance,\N,intron_variant,0.124,\N,\N,OTOF
429082,2:26701215:A>G,NM_194248.2:c.2215-598T>C,\N,\N,18/46,Benign,\N,intron_variant,0.406,0.0159,1KG_EUR_AF,OTOF
429083,2:26701223:A>G,NM_194248.2:c.2215-606T>C,\N,\N,18/46,Unknown significance,\N,intron_variant,0.256,\N,\N,OTOF
429084,2:26701273:G>A,NM_194248.2:c.2215-656C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,15.34,\N,\N,OTOF
429085,2:26701274:G>T,NM_194248.2:c.2215-657C>A,\N,\N,18/46,Unknown significance,\N,intron_variant,13.72,\N,\N,OTOF
429086,2:26701330:G>T,NM_194248.2:c.2215-713C>A,\N,\N,18/46,Benign,\N,intron_variant,0.247,0.9802,1KG_EAS_AF,OTOF
429087,2:26701334:C>T,NM_194248.2:c.2215-717G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,3.829,\N,\N,OTOF
429088,2:26701363:T>C,NM_194248.2:c.2215-746A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,7.367,\N,\N,OTOF
429089,2:26701374:C>T,NM_194248.2:c.2215-757G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,6.392,\N,\N,OTOF
429090,2:26701427:G>A,NM_194248.2:c.2214+705C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,0.409,\N,\N,OTOF
429091,2:26701458:GA>G,NM_194248.2:c.2214+673del,\N,\N,18/46,Benign,\N,intron_variant,5.708,0.1131,1KG_EAS_AF,OTOF
429092,2:26701471:A>T,NM_194248.2:c.2214+661T>A,\N,\N,18/46,Unknown significance,\N,intron_variant,13.15,\N,\N,OTOF
429093,2:26701495:T>C,NM_194248.2:c.2214+637A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,19.13,0.001,1KG_EAS_AF,OTOF
429094,2:26701500:A>G,NM_194248.2:c.2214+632T>C,\N,\N,18/46,Unknown significance,\N,intron_variant,19.31,\N,\N,OTOF
429095,2:26701508:C>T,NM_194248.2:c.2214+624G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,18.93,0.0008,1KG_AFR_AF,OTOF
429096,2:26701542:C>T,NM_194248.2:c.2214+590G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,9.885,\N,\N,OTOF
429097,2:26701558:G>GTTTTA,NM_194248.2:c.2214+569_2214+573dup,\N,\N,18/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429098,2:26701558:GTTTTA>G,NM_194248.2:c.2214+569_2214+573del,\N,\N,18/46,Benign,\N,intron_variant,7.422,0.9812,1KG_EAS_AF,OTOF
429099,2:26701563:A>G,NM_194248.2:c.2214+569T>C,\N,\N,18/46,Unknown significance,\N,intron_variant,5.244,\N,\N,OTOF
429100,2:26701578:A>T,NM_194248.2:c.2214+554T>A,\N,\N,18/46,Unknown significance,\N,intron_variant,0.016,\N,\N,OTOF
429101,2:26701606:GC>G,NM_194248.2:c.2214+525del,\N,\N,18/46,Unknown significance,\N,intron_variant,1.547,0.0015,1KG_AFR_AF,OTOF
429102,2:26701652:C>T,NM_194248.2:c.2214+480G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,1.657,\N,\N,OTOF
429103,2:26701653:G>A,NM_194248.2:c.2214+479C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,0.47,0.0008,1KG_AFR_AF,OTOF
429104,2:26701657:C>G,NM_194248.2:c.2214+475G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,1.317,\N,\N,OTOF
429105,2:26701659:C>T,NM_194248.2:c.2214+473G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,0.321,0.001,1KG_EUR_AF,OTOF
429106,2:26701669:C>T,NM_194248.2:c.2214+463G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,2.222,\N,\N,OTOF
429107,2:26701687:C>T,NM_194248.2:c.2214+445G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,5.967,\N,\N,OTOF
429108,2:26701691:C>G,NM_194248.2:c.2214+441G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,0.792,0.001,1KG_SAS_AF,OTOF
429109,2:26701692:G>A,NM_194248.2:c.2214+440C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,3.46,0.0008,1KG_AFR_AF,OTOF
429110,2:26701706:A>G,NM_194248.2:c.2214+426T>C,\N,\N,18/46,Benign,\N,intron_variant,2.691,0.1448,1KG_EAS_AF,OTOF
429111,2:26701716:G>C,NM_194248.2:c.2214+416C>G,\N,\N,18/46,Benign,\N,intron_variant,0.07,0.0197,1KG_AFR_AF,OTOF
429112,2:26701751:G>A,NM_194248.2:c.2214+381C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,2.218,\N,\N,OTOF
429113,2:26701755:C>T,NM_194248.2:c.2214+377G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,1.587,0.001,1KG_EUR_AF,OTOF
429114,2:26701765:C>G,NM_194248.2:c.2214+367G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,1.486,\N,\N,OTOF
429115,2:26701765:CTA>C,NM_194248.2:c.2214+365_2214+366del,\N,\N,18/46,Benign,\N,intron_variant,4.345,0.0378,1KG_SAS_AF,OTOF
429116,2:26701769:G>A,NM_194248.2:c.2214+363C>T,\N,\N,18/46,Benign,\N,intron_variant,2.879,0.084,1KG_AFR_AF,OTOF
429117,2:26701778:G>A,NM_194248.2:c.2214+354C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,3.665,\N,\N,OTOF
429118,2:26701784:C>T,NM_194248.2:c.2214+348G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,3.214,\N,\N,OTOF
429119,2:26701786:C>T,NM_194248.2:c.2214+346G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,2.267,0.001,1KG_SAS_AF,OTOF
429120,2:26701797:C>T,NM_194248.2:c.2214+335G>A,\N,\N,18/46,Benign,\N,intron_variant,7.603,0.0102,1KG_SAS_AF,OTOF
429121,2:26701811:C>A,NM_194248.2:c.2214+321G>T,\N,\N,18/46,Unknown significance,\N,intron_variant,8.218,0.0008,1KG_AFR_AF,OTOF
429122,2:26701813:T>C,NM_194248.2:c.2214+319A>G,\N,\N,18/46,Benign,\N,intron_variant,4.401,0.9812,1KG_EAS_AF,OTOF
429123,2:26701822:C>G,NM_194248.2:c.2214+310G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,11.59,\N,\N,OTOF
429124,2:26701831:T>C,NM_194248.2:c.2214+301A>G,\N,\N,18/46,Benign,\N,intron_variant,12.54,0.0076,1KG_AFR_AF,OTOF
429125,2:26701845:G>A,NM_194248.2:c.2214+287C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,13.85,0.0008,1KG_AFR_AF,OTOF
429126,2:26701851:G>A,NM_194248.2:c.2214+281C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,12.4,0.003,1KG_EAS_AF,OTOF
429127,2:26701872:G>A,NM_194248.2:c.2214+260C>T,\N,\N,18/46,Benign,\N,intron_variant,14.36,0.0303,1KG_AFR_AF,OTOF
429128,2:26701878:C>CT,NM_194248.2:c.2214+253dup,\N,\N,18/46,Benign,\N,intron_variant,17.64,0.0113,1KG_AFR_AF,OTOF
429129,2:26701901:A>T,NM_194248.2:c.2214+231T>A,\N,\N,18/46,Unknown significance,\N,intron_variant,12.41,\N,\N,OTOF
429130,2:26701918:T>C,NM_194248.2:c.2214+214A>G,\N,\N,18/46,Unknown significance,\N,intron_variant,3.716,\N,\N,OTOF
429131,2:26701943:G>C,NM_194248.2:c.2214+189C>G,\N,\N,18/46,Unknown significance,\N,intron_variant,0.328,\N,\N,OTOF
429132,2:26701955:G>T,NM_194248.2:c.2214+177C>A,\N,\N,18/46,Unknown significance,\N,intron_variant,0.632,0.0015,1KG_AFR_AF,OTOF
429133,2:26702001:A>T,NM_194248.2:c.2214+131T>A,\N,\N,18/46,Unknown significance,\N,intron_variant,9.824,0.0008,1KG_AFR_AF,OTOF
429134,2:26702031:GC>G,NM_194248.2:c.2214+100del,\N,\N,18/46,Benign,\N,intron_variant,7.096,0.0058,1KG_AMR_AF,OTOF
429135,2:26702057:GT>G,NM_194248.2:c.2214+74del,\N,\N,18/46,Benign,\N,intron_variant,4.115,0.8373,1KG_EAS_AF,OTOF
429136,2:26702081:C>T,NM_194248.2:c.2214+51G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,3.372,0.000127259,EXAC_EAS_AF,OTOF
429137,2:26702082:G>A,NM_194248.2:c.2214+50C>T,\N,\N,18/46,Benign,\N,intron_variant,2.29,0.3495,1KG_AFR_AF,OTOF
429138,2:26702084:C>T,NM_194248.2:c.2214+48G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,5.179,\N,\N,OTOF
429139,2:26702085:G>A,NM_194248.2:c.2214+47C>T,\N,\N,18/46,Unknown significance,\N,intron_variant,1.007,0.000117151,EXAC_AFR_AF,OTOF
429140,2:26702089:C>G,NM_194248.2:c.2214+43G>C,\N,\N,18/46,Unknown significance,\N,intron_variant,4.116,\N,\N,OTOF
429141,2:26702097:A>C,NM_194248.2:c.2214+35T>G,\N,\N,18/46,Unknown significance,\N,intron_variant,8.635,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429142,2:26702102:A>C,NM_194248.2:c.2214+30T>G,\N,\N,18/46,Unknown significance,\N,intron_variant,9.896,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429143,2:26702104:C>A,NM_194248.2:c.2214+28G>T,\N,\N,18/46,Unknown significance,\N,intron_variant,12.57,0.0000169056,EXAC_NFE_AF,OTOF
429144,2:26702108:G>C,NM_194248.2:c.2214+24C>G,\N,\N,18/46,Unknown significance,\N,intron_variant,9.335,0.000123518,EXAC_EAS_AF,OTOF
429145,2:26702109:C>T,NM_194248.2:c.2214+23G>A,\N,\N,18/46,Unknown significance,\N,intron_variant,9.428,0.000227376,EVS_AA_AF,OTOF
429146,2:26702124:G>A,NM_194248.2:c.2214+8C>T,\N,\N,18/46,Unknown significance,\N,splice_region_variant&intron_variant,11.1,\N,\N,OTOF
429147,2:26702131:C>A,NM_194248.2:c.2214+1G>T,\N,\N,18/46,Pathogenic,Deafness| autosomal recessive 9; OTOF-Related Deafness,splice_donor_variant,26.5,\N,\N,OTOF
429148,2:26702135:C>T,NM_194248.2:c.2211G>A,NP_919224.1:p.Lys737=,18/47,\N,Unknown significance,\N,synonymous_variant,14.11,0.001,1KG_SAS_AF,OTOF
429149,2:26702140:C>T,NM_194248.2:c.2206G>A,NP_919224.1:p.Asp736Asn,18/47,\N,Unknown significance,\N,missense_variant,26.1,0.0000160555,EXAC_NFE_AF,OTOF
429150,2:26702141:G>A,NM_194248.2:c.2205C>T,NP_919224.1:p.Ala735=,18/47,\N,Unknown significance,\N,synonymous_variant,14.8,0.000108838,EXAC_AFR_AF,OTOF
429151,2:26702149:G>C,NM_194248.2:c.2197C>G,NP_919224.1:p.His733Asp,18/47,\N,Likely benign,\N,missense_variant,23.5,0.0000159144,EXAC_NFE_AF,OTOF
429152,2:26702153:C>T,NM_194248.2:c.2193G>A,NP_919224.1:p.Met731Ile,18/47,\N,Unknown significance,\N,missense_variant,11.04,0.0000916254,EXAC_AMR_AF,OTOF
429153,2:26702156:G>T,NM_194248.2:c.2190C>A,NP_919224.1:p.Ile730=,18/47,\N,Unknown significance,\N,synonymous_variant,9.861,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429154,2:26702159:G>A,NM_194248.2:c.2187C>T,NP_919224.1:p.Asn729=,18/47,\N,Unknown significance,\N,synonymous_variant,7.1,0.000192951,EXAC_SAS_AF,OTOF
429155,2:26702166:T>C,NM_194248.2:c.2180A>G,NP_919224.1:p.Asn727Ser,18/47,\N,Unknown significance,\N,missense_variant,14.33,0.005,1KG_EAS_AF,OTOF
429156,2:26702167:T>C,NM_001287489.1:c.2179A>G,NP_001274418.1:p.Asn727Asp,18/46,\N,Unknown significance,\N,missense_variant,21.5,0.000184026,EXAC_AMR_AF,OTOF
429157,2:26702174:G>T,NM_194248.2:c.2172C>A,NP_919224.1:p.Arg724=,18/47,\N,Unknown significance,\N,synonymous_variant,7.662,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429158,2:26702175:C>T,NM_194248.2:c.2171G>A,NP_919224.1:p.Arg724His,18/47,\N,Unknown significance,\N,missense_variant,34,0.0000968367,EXAC_NFE_AF,OTOF
429159,2:26702176:G>A,NM_194248.2:c.2170C>T,NP_919224.1:p.Arg724Cys,18/47,\N,Unknown significance,\N,missense_variant,34,0.000108625,EXAC_AFR_AF,OTOF
429160,2:26702178:C>T,NM_194248.2:c.2168G>A,NP_919224.1:p.Arg723His,18/47,\N,Unknown significance,\N,missense_variant,27.6,0.000178583,EXAC_NFE_AF,OTOF
429161,2:26702179:G>A,NM_194248.2:c.2167C>T,NP_919224.1:p.Arg723Cys,18/47,\N,Unknown significance,\N,missense_variant,27.3,0.000227273,EVS_AA_AF,OTOF
429162,2:26702179:G>T,NM_194248.2:c.2167C>A,NP_919224.1:p.Arg723Ser,18/47,\N,Unknown significance,\N,missense_variant,23,\N,\N,OTOF
429163,2:26702181:C>T,NM_001287489.1:c.2165G>A,NP_001274418.1:p.Arg722His,18/46,\N,Unknown significance,\N,missense_variant,34,0.000064792,EXAC_SAS_AF,OTOF
429164,2:26702182:G>A,NM_001287489.1:c.2164C>T,NP_001274418.1:p.Arg722Cys,18/46,\N,Unknown significance,\N,missense_variant,31,0.0000161192,EXAC_NFE_AF,OTOF
429165,2:26702183:C>A,NM_194248.2:c.2163G>T,NP_919224.1:p.Gln721His,18/47,\N,Unknown significance,\N,missense_variant,21.5,0.0000160792,EXAC_NFE_AF,OTOF
429166,2:26702187:T>G,NM_194248.2:c.2159A>C,NP_919224.1:p.Asp720Ala,18/47,\N,Unknown significance,\N,missense_variant,23.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429167,2:26702189:C>T,NM_194248.2:c.2157G>A,NP_919224.1:p.Pro719=,18/47,\N,Unknown significance,\N,synonymous_variant,14.84,0.000258164,EXAC_SAS_AF,OTOF
429168,2:26702191:G>T,NM_194248.2:c.2155C>A,NP_919224.1:p.Pro719Thr,18/47,\N,Unknown significance,\N,missense_variant,19.75,0.0000936154,EXAC_AMR_AF,OTOF
429169,2:26702193:C>T,NM_194248.2:c.2153G>A,NP_919224.1:p.Trp718Ter,18/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,40,0.000430108,EXAC_AFR_AF,OTOF
429170,2:26702195:C>T,NM_194248.2:c.2151G>A,NP_919224.1:p.Trp717Ter,18/47,\N,Pathogenic,Hearing loss| non-syndromic,stop_gained,40,\N,\N,OTOF
429171,2:26702198:G>A,NM_194248.2:c.2148C>T,NP_919224.1:p.Ser716=,18/47,\N,Unknown significance,\N,synonymous_variant,10.96,0.000116279,EVS_EA_AF,OTOF
429172,2:26702199:C>T,NM_194248.2:c.2147G>A,NP_919224.1:p.Ser716Asn,18/47,\N,Unknown significance,\N,missense_variant,24.7,0.0008,1KG_AFR_AF,OTOF
429173,2:26702217:G>C,NM_194248.2:c.2129C>G,NP_919224.1:p.Pro710Arg,18/47,\N,Unknown significance,\N,missense_variant,25.9,0.00003184,EXAC_NFE_AF,OTOF
429174,2:26702223:C>T,NM_194248.2:c.2123G>A,NP_919224.1:p.Arg708Gln,18/47,\N,Likely benign,\N,missense_variant,22.5,0.00151341,EXAC_NFE_AF,OTOF
429175,2:26702224:G>A,NM_194248.2:c.2122C>T,NP_919224.1:p.Arg708Ter,18/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained,37,0.000454339,EVS_AA_AF,OTOF
429176,2:26702224:G>T,NM_194248.2:c.2122C>A,NP_919224.1:p.Arg708=,18/47,\N,Unknown significance,\N,synonymous_variant,11.67,0.0008,1KG_AFR_AF,OTOF
429177,2:26702225:C>A,NM_194248.2:c.2121G>T,NP_919224.1:p.Glu707Asp,18/47,\N,Unknown significance,\N,missense_variant,14.03,0.000193999,EXAC_SAS_AF,OTOF
429178,2:26702227:C>G,NM_194248.2:c.2119G>C,NP_919224.1:p.Glu707Gln,18/47,\N,Unknown significance,\N,missense_variant,22.7,0.0000943574,EXAC_AMR_AF,OTOF
429179,2:26702234:G>A,NM_194248.2:c.2112C>T,NP_919224.1:p.Pro704=,18/47,\N,Unknown significance,\N,synonymous_variant,8.97,0.0000159673,EXAC_NFE_AF,OTOF
429180,2:26702240:A>T,NM_194248.2:c.2106T>A,NP_919224.1:p.His702Gln,18/47,\N,Likely benign,\N,missense_variant,14.63,0.000248818,EXAC_EAS_AF,OTOF
429181,2:26702246:G>A,NM_194248.2:c.2100C>T,NP_919224.1:p.Tyr700=,18/47,\N,Unknown significance,\N,synonymous_variant,5.273,0.000557828,EXAC_FIN_AF,OTOF
429182,2:26702258:G>A,NM_194248.2:c.2094-6C>T,\N,\N,17/46,Unknown significance,\N,splice_region_variant&intron_variant,11.11,0.000110205,EXAC_AFR_AF,OTOF
429183,2:26702259:T>G,NM_194248.2:c.2094-7A>C,\N,\N,17/46,Unknown significance,\N,splice_region_variant&intron_variant,9.801,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429184,2:26702261:G>A,NM_194248.2:c.2094-9C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,13.96,0.0000168617,EXAC_NFE_AF,OTOF
429185,2:26702269:C>T,NM_194248.2:c.2094-17G>A,\N,\N,17/46,Unknown significance,\N,intron_variant,0.034,0.000137325,EXAC_SAS_AF,OTOF
429186,2:26702270:G>A,NM_194248.2:c.2094-18C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,2.455,0.000330688,EXAC_AMR_AF,OTOF
429187,2:26702273:A>G,NM_194248.2:c.2094-21T>C,\N,\N,17/46,Unknown significance,\N,intron_variant,5.433,0.003125,OTO_US_AF,OTOF
429188,2:26702276:T>G,NM_194248.2:c.2094-24A>C,\N,\N,17/46,Benign,\N,intron_variant,6.448,0.06875,OTO_US_AF,OTOF
429189,2:26702278:A>G,NM_194248.2:c.2094-26T>C,\N,\N,17/46,Unknown significance,\N,intron_variant,4.54,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429190,2:26702281:T>G,NM_194248.2:c.2094-29A>C,\N,\N,17/46,Benign,\N,intron_variant,6.226,0.01,OTO_TR_AF,OTOF
429191,2:26702287:G>T,NM_194248.2:c.2094-35C>A,\N,\N,17/46,Unknown significance,\N,intron_variant,2.486,0.000143678,EXAC_EAS_AF,OTOF
429192,2:26702289:G>A,NM_194248.2:c.2094-37C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,1.461,0.0001468,EXAC_EAS_AF,OTOF
429193,2:26702290:C>G,NM_194248.2:c.2094-38G>C,\N,\N,17/46,Unknown significance,\N,intron_variant,7.17,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429194,2:26702297:A>G,NM_194248.2:c.2093+44T>C,\N,\N,17/46,Unknown significance,\N,intron_variant,12.82,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429195,2:26702300:T>G,NM_194248.2:c.2093+41A>C,\N,\N,17/46,Benign,\N,intron_variant,12.95,0.01,OTO_TR_AF,OTOF
429196,2:26702304:A>G,NM_194248.2:c.2093+37T>C,\N,\N,17/46,Unknown significance,\N,intron_variant,12.88,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429197,2:26702305:G>A,NM_194248.2:c.2093+36C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,12.85,0.0000196279,EXAC_NFE_AF,OTOF
429198,2:26702321:G>A,NM_194248.2:c.2093+20C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,2.905,0.000132485,EXAC_AFR_AF,OTOF
429199,2:26702322:G>A,NM_194248.2:c.2093+19C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,5.5,0.00109968,EXAC_NFE_AF,OTOF
429200,2:26702324:T>C,NM_194248.2:c.2093+17A>G,\N,\N,17/46,Unknown significance,\N,intron_variant,2.329,0.0000421656,EXAC_NFE_AF,OTOF
429201,2:26702328:A>G,NM_194248.2:c.2093+13T>C,\N,\N,17/46,Unknown significance,\N,intron_variant,5.847,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429202,2:26702330:G>A,NM_194248.2:c.2093+11C>T,\N,\N,17/46,Unknown significance,\N,intron_variant,5.462,0.0000211766,EXAC_NFE_AF,OTOF
429203,2:26702337:C>T,NM_194248.2:c.2093+4G>A,\N,\N,17/46,Unknown significance,\N,splice_region_variant&intron_variant,11.12,0.0000217231,EXAC_NFE_AF,OTOF
429204,2:26702340:C>A,NM_194248.2:c.2093+1G>T,\N,\N,17/46,Pathogenic,Deafness| non-syndromic,splice_donor_variant,24.3,\N,\N,OTOF
429205,2:26702345:C>T,NM_194248.2:c.2089G>A,NP_919224.1:p.Asp697Asn,17/47,\N,Unknown significance,\N,missense_variant,23.6,0.000138927,EXAC_AFR_AF,OTOF
429206,2:26702346:G>A,NM_194248.2:c.2088C>T,NP_919224.1:p.Thr696=,17/47,\N,Unknown significance,\N,synonymous_variant,6.213,0.000156104,EXAC_SAS_AF,OTOF
429207,2:26702357:G>A,NM_001287489.1:c.2077C>T,NP_001274418.1:p.Pro693Ser,17/46,\N,Unknown significance,\N,missense_variant,26,\N,\N,OTOF
429208,2:26702358:C>A,NM_194248.2:c.2076G>T,NP_919224.1:p.Arg692=,17/47,\N,Unknown significance,\N,synonymous_variant,12.81,0.0023,1KG_AFR_AF,OTOF
429209,2:26702358:C>T,NM_194248.2:c.2076G>A,NP_919224.1:p.Arg692=,17/47,\N,Unknown significance,\N,synonymous_variant,12.34,0.00015625,EXAC_SAS_AF,OTOF
429210,2:26702359:C>T,NM_194248.2:c.2075G>A,NP_919224.1:p.Arg692Gln,17/47,\N,Unknown significance,\N,missense_variant,26,0.000458295,EVS_AA_AF,OTOF
429211,2:26702360:G>T,NM_194248.2:c.2074C>A,NP_919224.1:p.Arg692=,17/47,\N,Unknown significance,\N,synonymous_variant,9.333,0.000307314,EXAC_FIN_AF,OTOF
429212,2:26702362:A>G,NM_194248.2:c.2072T>C,NP_919224.1:p.Met691Thr,17/47,\N,Unknown significance,\N,missense_variant,9.76,0.0000220507,EXAC_NFE_AF,OTOF
429213,2:26702363:T>C,NM_194248.2:c.2071A>G,NP_919224.1:p.Met691Val,17/47,\N,Unknown significance,\N,missense_variant,0.03,0.000116741,EVS_EA_AF,OTOF
429214,2:26702367:T>G,NM_194248.2:c.2067A>C,NP_919224.1:p.Pro689=,17/47,\N,Unknown significance,\N,synonymous_variant,2.708,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429215,2:26702372:T>G,NM_194248.2:c.2062A>C,NP_919224.1:p.Thr688Pro,17/47,\N,Unknown significance,\N,missense_variant,21.9,0.003125,OTO_US_AF,OTOF
429216,2:26702374:G>A,NM_194248.2:c.2060C>T,NP_919224.1:p.Ser687Phe,17/47,\N,Unknown significance,\N,missense_variant,25.2,0.000168691,EXAC_AMR_AF,OTOF
429217,2:26702391:G>GTCCCCGGCA,NM_194248.2:c.2034_2042dup,NP_919224.1:p.Ala679_Asp681dup,17/47,\N,Unknown significance,Deafness| autosomal recessive 9,inframe_insertion,\N,\N,\N,OTOF
429218,2:26702395:C>T,NM_194248.2:c.2039G>A,NP_919224.1:p.Gly680Glu,17/47,\N,Likely benign,\N,missense_variant,12.27,0.0000210535,EXAC_NFE_AF,OTOF
429219,2:26702397:G>A,NM_194248.2:c.2037C>T,NP_919224.1:p.Ala679=,17/47,\N,Likely benign,\N,synonymous_variant,8.191,0.000147016,EXAC_AMR_AF,OTOF
429220,2:26702403:A>C,NM_194248.2:c.2031T>G,NP_919224.1:p.Gly677=,17/47,\N,Unknown significance,\N,synonymous_variant,0.001,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429221,2:26702405:C>T,NM_194248.2:c.2029G>A,NP_919224.1:p.Gly677Ser,17/47,\N,Likely benign,\N,missense_variant,0.13,0.0000731529,EXAC_SAS_AF,OTOF
429222,2:26702406:G>A,NM_194248.2:c.2028C>T,NP_919224.1:p.Ala676=,17/47,\N,Unknown significance,\N,synonymous_variant,6.854,0.000250815,EXAC_AMR_AF,OTOF
429223,2:26702409:C>T,NM_194248.2:c.2025G>A,NP_919224.1:p.Glu675=,17/47,\N,Benign,\N,synonymous_variant,6.863,0.019174,EXAC_OTH_AF,OTOF
429224,2:26702411:C>T,NM_194248.2:c.2023G>A,NP_919224.1:p.Glu675Lys,17/47,\N,Likely benign,\N,missense_variant,20.8,0.0000367026,EXAC_NFE_AF,OTOF
429225,2:26702412:G>A,NM_194248.2:c.2022C>T,NP_919224.1:p.Asp674=,17/47,\N,Benign,\N,synonymous_variant,0.409,0.124841,EXAC_FIN_AF,OTOF
429226,2:26702414:C>A,NM_001287489.1:c.2020G>T,NP_001274418.1:p.Asp674Tyr,17/46,\N,Unknown significance,\N,missense_variant,24.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429227,2:26702415:A>C,NM_194248.2:c.2019T>G,NP_919224.1:p.Asp673Glu,17/47,\N,Likely benign,\N,missense_variant,0.001,0.0000685683,EXAC_SAS_AF,OTOF
429228,2:26702416:T>C,NM_194248.2:c.2018A>G,NP_919224.1:p.Asp673Gly,17/47,\N,Unknown significance,\N,missense_variant,9.5,0.0000514756,EXAC_NFE_AF,OTOF
429229,2:26702423:C>A,NM_194248.2:c.2011G>T,NP_919224.1:p.Ala671Ser,17/47,\N,Likely benign,\N,missense_variant,0.126,0.0000661901,EXAC_SAS_AF,OTOF
429230,2:26702424:G>A,NM_194248.2:c.2010C>T,NP_919224.1:p.Asn670=,17/47,\N,Likely benign,\N,synonymous_variant,6.72,0.00024667,EXAC_EAS_AF,OTOF
429231,2:26702436:G>A,NM_194248.2:c.1998C>T,NP_919224.1:p.Asp666=,17/47,\N,Unknown significance,\N,synonymous_variant,7.878,0.0000159053,EXAC_NFE_AF,OTOF
429232,2:26702440:A>C,NM_194248.2:c.1994T>G,NP_919224.1:p.Val665Gly,17/47,\N,Unknown significance,\N,missense_variant,8.916,0.000188941,EXAC_SAS_AF,OTOF
429233,2:26702448:C>T,NM_194248.2:c.1986G>A,NP_919224.1:p.Glu662=,17/47,\N,Unknown significance,\N,synonymous_variant,11.75,0.0000157426,EXAC_NFE_AF,OTOF
429234,2:26702452:T>TC,NM_194248.2:c.1981dup,NP_919224.1:p.Asp661GlyfsTer2,17/47,\N,Pathogenic,Deafness| non-syndromic| autosomal recessive,frameshift_variant,33,\N,\N,OTOF
429235,2:26702452:T>C,NM_194248.2:c.1982A>G,NP_919224.1:p.Asp661Gly,17/47,\N,Likely benign,\N,missense_variant,11.43,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429236,2:26702453:C>A,NM_194248.2:c.1981G>T,NP_919224.1:p.Asp661Tyr,17/47,\N,Unknown significance,\N,missense_variant,26.4,0.000117096,EXAC_EAS_AF,OTOF
429237,2:26702453:C>T,NM_194248.2:c.1981G>A,NP_919224.1:p.Asp661Asn,17/47,\N,Likely benign,\N,missense_variant,16.64,0.0000157134,EXAC_NFE_AF,OTOF
429238,2:26702455:CCCGGCTCCTTCCGGGGCCGAGGCCGCTGGGG>C,NM_194248.2:c.1948_1978del,NP_919224.1:p.Pro650GlyfsTer6,17/47,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,OTOF
429239,2:26702457:C>T,NM_194248.2:c.1977G>A,NP_919224.1:p.Pro659=,17/47,\N,Likely benign,\N,synonymous_variant,9.269,0.001,1KG_EUR_AF,OTOF
429240,2:26702458:G>A,NM_194248.2:c.1976C>T,NP_919224.1:p.Pro659Leu,17/47,\N,Likely benign,\N,missense_variant,15.92,0.000227066,EVS_AA_AF,OTOF
429241,2:26702459:GCTCCTT>G,NM_194248.2:c.1969_1974del,NP_919224.1:p.Lys657_Glu658del,17/47,\N,Unknown significance,\N,inframe_deletion,15.78,0.000116877,EXAC_EAS_AF,OTOF
429242,2:26702462:C>G,NM_194248.2:c.1972G>C,NP_919224.1:p.Glu658Gln,17/47,\N,Unknown significance,\N,missense_variant,15.28,0.0000156725,EXAC_NFE_AF,OTOF
429243,2:26702467:CG>C,NM_194248.2:c.1966del,NP_919224.1:p.Arg656GlyfsTer10,17/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,25.8,\N,\N,OTOF
429244,2:26702467:C>A,NM_194248.2:c.1967G>T,NP_919224.1:p.Arg656Leu,17/47,\N,Likely benign,\N,missense_variant,17.86,0.00011655,EXAC_EAS_AF,OTOF
429245,2:26702467:C>T,NM_194248.2:c.1967G>A,NP_919224.1:p.Arg656Gln,17/47,\N,Likely benign,\N,missense_variant,16.43,0.001,1KG_SAS_AF,OTOF
429246,2:26702468:G>A,NM_194248.2:c.1966C>T,NP_919224.1:p.Arg656Trp,17/47,\N,Likely benign,\N,missense_variant,22.9,0.000101895,EXAC_AFR_AF,OTOF
429247,2:26702468:GGGGCCGAGGCCGCTGGGGCC>G,NM_194248.2:c.1946_1965del,NP_919224.1:p.Arg649ProfsTer7,17/47,\N,Pathogenic,Auditory neuropathy,frameshift_variant,33,\N,\N,OTOF
429248,2:26702470:G>A,NM_194248.2:c.1964C>T,NP_919224.1:p.Pro655Leu,17/47,\N,Likely benign,\N,missense_variant,10.35,0.000116333,EVS_EA_AF,OTOF
429249,2:26702471:G>A,NM_194248.2:c.1963C>T,NP_919224.1:p.Pro655Ser,17/47,\N,Likely benign,\N,missense_variant,4.571,0.000116333,EVS_EA_AF,OTOF
429250,2:26702471:GC>G,NM_194248.2:c.1962del,NP_919224.1:p.Arg656GlyfsTer10,17/47,\N,Unknown significance,\N,frameshift_variant,26.8,0.000116496,EXAC_EAS_AF,OTOF
429251,2:26702473:C>T,NM_194248.2:c.1961G>A,NP_919224.1:p.Arg654Gln,17/47,\N,Benign,\N,missense_variant,13.61,0.00558919,EXAC_EAS_AF,OTOF
429252,2:26702474:G>A,NM_194248.2:c.1960C>T,NP_919224.1:p.Arg654Trp,17/47,\N,Unknown significance,\N,missense_variant,24.6,0.0008,1KG_AFR_AF,OTOF
429253,2:26702475:AG>A,NM_194248.2:c.1958del,NP_919224.1:p.Pro653LeufsTer13,17/47,\N,Pathogenic,Deafness| non-syndromic| autosomal recessive,frameshift_variant,24.1,\N,\N,OTOF
429254,2:26702479:C>T,NM_194248.2:c.1955G>A,NP_919224.1:p.Arg652Gln,17/47,\N,Likely benign,\N,missense_variant,14.82,0.001,1KG_SAS_AF,OTOF
429255,2:26702480:G>A,NM_194248.2:c.1954C>T,NP_919224.1:p.Arg652Trp,17/47,\N,Likely benign,\N,missense_variant,23.4,0.000232612,EVS_EA_AF,OTOF
429256,2:26702480:G>C,NM_194248.2:c.1954C>G,NP_919224.1:p.Arg652Gly,17/47,\N,Likely benign,\N,missense_variant,1.179,0.000100685,EXAC_AFR_AF,OTOF
429257,2:26702480:G>T,NM_194248.2:c.1954C>A,NP_919224.1:p.Arg652=,17/47,\N,Unknown significance,\N,synonymous_variant,1.843,0.000061207,EXAC_SAS_AF,OTOF
429258,2:26702481:CTGGGG>C,NM_194248.2:c.1948_1952del,NP_919224.1:p.Pro650AlafsTer11,17/47,\N,Unknown significance,\N,frameshift_variant,32,0.000100563,EXAC_AFR_AF,OTOF
429259,2:26702485:G>C,NM_194248.2:c.1949C>G,NP_919224.1:p.Pro650Arg,17/47,\N,Unknown significance,\N,missense_variant,21.9,0.00011636,EXAC_EAS_AF,OTOF
429260,2:26702488:C>T,NM_194248.2:c.1946G>A,NP_919224.1:p.Arg649Gln,17/47,\N,Likely benign,\N,missense_variant,17.13,0.0008,1KG_AFR_AF,OTOF
429261,2:26702489:G>A,NM_001287489.1:c.1945C>T,NP_001274418.1:p.Arg649Trp,17/46,\N,Unknown significance,\N,missense_variant,24.6,\N,\N,OTOF
429262,2:26702494:A>C,NM_194248.2:c.1940T>G,NP_919224.1:p.Leu647Arg,17/47,\N,Likely benign,\N,missense_variant,5.428,0.0000155429,EXAC_NFE_AF,OTOF
429263,2:26702495:G>T,NM_194248.2:c.1939C>A,NP_919224.1:p.Leu647Met,17/47,\N,Likely benign,\N,missense_variant,0.057,0.0000612895,EXAC_SAS_AF,OTOF
429264,2:26702499:A>G,NM_194248.2:c.1935T>C,NP_919224.1:p.Asp645=,17/47,\N,Unknown significance,\N,synonymous_variant,0.108,0.0000613648,EXAC_SAS_AF,OTOF
429265,2:26702501:C>T,NM_194248.2:c.1933G>A,NP_919224.1:p.Asp645Asn,17/47,\N,Unknown significance,\N,missense_variant,25.8,0.0000155477,EXAC_NFE_AF,OTOF
429266,2:26702503:A>G,NM_194248.2:c.1931T>C,NP_919224.1:p.Val644Ala,17/47,\N,Likely benign,\N,missense_variant,10.48,0.00011636,EVS_EA_AF,OTOF
429267,2:26702504:C>T,NM_194248.2:c.1930G>A,NP_919224.1:p.Val644Ile,17/47,\N,Unknown significance,\N,missense_variant,1.111,0.0000155492,EXAC_NFE_AF,OTOF
429268,2:26702507:C>A,NM_194248.2:c.1927G>T,NP_919224.1:p.Glu643Ter,17/47,\N,Unknown significance,\N,stop_gained,37,0.0000466723,EXAC_NFE_AF,OTOF
429269,2:26702507:C>T,NM_194248.2:c.1927G>A,NP_919224.1:p.Glu643Lys,17/47,\N,Likely benign,\N,missense_variant,14.99,0.001,1KG_EUR_AF,OTOF
429270,2:26702508:G>A,NM_194248.2:c.1926C>T,NP_919224.1:p.Asn642=,17/47,\N,Benign,\N,synonymous_variant,9.287,0.0481891,EXAC_AFR_AF,OTOF
429271,2:26702516:A>G,NM_001287489.1:c.1918T>C,NP_001274418.1:p.Tyr640His,17/46,\N,Unknown significance,\N,missense_variant,25.3,0.0000616979,EXAC_SAS_AF,OTOF
429272,2:26702520:GCCTGGAGC>G,NM_194248.2:c.1913-7_1913del,\N,17/47,16/46,Unknown significance,\N,splice_acceptor_variant&coding_sequence_variant&intron_variant,29.7,\N,\N,OTOF
429273,2:26702531:A>G,NM_194248.2:c.1913-10T>C,\N,\N,16/46,Unknown significance,\N,intron_variant,9.328,\N,\N,OTOF
429274,2:26702532:A>C,NM_194248.2:c.1913-11T>G,\N,\N,16/46,Unknown significance,\N,intron_variant,7.184,\N,\N,OTOF
429275,2:26702535:G>C,NM_194248.2:c.1913-14C>G,\N,\N,16/46,Unknown significance,\N,intron_variant,0.116,0.0000158003,EXAC_NFE_AF,OTOF
429276,2:26702536:G>A,NM_194248.2:c.1913-15C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,0.869,0.000104015,EXAC_AFR_AF,OTOF
429277,2:26702542:A>G,NM_194248.2:c.1913-21T>C,\N,\N,16/46,Benign,\N,intron_variant,3.356,0.0212,1KG_AFR_AF,OTOF
429278,2:26702556:A>G,NM_194248.2:c.1913-35T>C,\N,\N,16/46,Unknown significance,\N,intron_variant,0.971,0.0000160736,EXAC_NFE_AF,OTOF
429279,2:26702557:T>C,NM_194248.2:c.1913-36A>G,\N,\N,16/46,Unknown significance,\N,intron_variant,1.802,\N,\N,OTOF
429280,2:26702559:C>T,NM_194248.2:c.1913-38G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,5.833,0.0000162649,EXAC_NFE_AF,OTOF
429281,2:26702563:A>G,NM_194248.2:c.1913-42T>C,\N,\N,16/46,Unknown significance,\N,intron_variant,0.781,0.000129299,EXAC_SAS_AF,OTOF
429282,2:26702564:C>T,NM_194248.2:c.1913-43G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,4.631,0.00022748,EVS_AA_AF,OTOF
429283,2:26702569:C>T,NM_194248.2:c.1913-48G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,6.312,0.0000165289,EXAC_NFE_AF,OTOF
429284,2:26702570:C>T,NM_194248.2:c.1913-49G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,6.342,\N,\N,OTOF
429285,2:26702590:G>T,NM_194248.2:c.1913-69C>A,\N,\N,16/46,Benign,\N,intron_variant,2.982,0.0053,1KG_AFR_AF,OTOF
429286,2:26702614:G>A,NM_194248.2:c.1913-93C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,3.661,\N,\N,OTOF
429287,2:26702614:G>T,NM_194248.2:c.1913-93C>A,\N,\N,16/46,Unknown significance,\N,intron_variant,2.084,0.0041,1KG_SAS_AF,OTOF
429288,2:26702645:C>T,NM_194248.2:c.1913-124G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,2.925,0.0015,1KG_AFR_AF,OTOF
429289,2:26702646:G>A,NM_194248.2:c.1913-125C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,3.519,\N,\N,OTOF
429290,2:26702677:C>T,NM_194248.2:c.1913-156G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,7.046,0.003,1KG_EUR_AF,OTOF
429291,2:26702691:G>A,NM_194248.2:c.1913-170C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,2.307,\N,\N,OTOF
429292,2:26702697:A>G,NM_194248.2:c.1913-176T>C,\N,\N,16/46,Unknown significance,\N,intron_variant,1.05,\N,\N,OTOF
429293,2:26702714:G>A,NM_194248.2:c.1913-193C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,4.377,0.001,1KG_EAS_AF,OTOF
429294,2:26702720:T>C,NM_194248.2:c.1913-199A>G,\N,\N,16/46,Unknown significance,\N,intron_variant,1.013,0.002,1KG_SAS_AF,OTOF
429295,2:26702726:C>T,NM_194248.2:c.1913-205G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,3.886,0.001,1KG_SAS_AF,OTOF
429296,2:26702736:C>G,NM_194248.2:c.1913-215G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,4.418,0.0014,1KG_AMR_AF,OTOF
429297,2:26702774:T>C,NM_194248.2:c.1913-253A>G,\N,\N,16/46,Unknown significance,\N,intron_variant,1.368,0.001,1KG_EAS_AF,OTOF
429298,2:26702779:A>T,NM_194248.2:c.1913-258T>A,\N,\N,16/46,Unknown significance,\N,intron_variant,2.312,\N,\N,OTOF
429299,2:26702829:C>G,NM_194248.2:c.1912+242G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,3.875,0.0031,1KG_SAS_AF,OTOF
429300,2:26702892:C>T,NM_194248.2:c.1912+179G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,2.344,0.001,1KG_EAS_AF,OTOF
429301,2:26702901:G>C,NM_194248.2:c.1912+170C>G,\N,\N,16/46,Unknown significance,\N,intron_variant,0.765,\N,\N,OTOF
429302,2:26702928:G>A,NM_194248.2:c.1912+143C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,4.571,\N,\N,OTOF
429303,2:26702930:G>T,NM_194248.2:c.1912+141C>A,\N,\N,16/46,Unknown significance,\N,intron_variant,1.824,\N,\N,OTOF
429304,2:26702943:G>A,NM_194248.2:c.1912+128C>T,\N,\N,16/46,Benign,\N,intron_variant,0.588,0.0308,1KG_EAS_AF,OTOF
429305,2:26702961:G>A,NM_194248.2:c.1912+110C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,1.768,\N,\N,OTOF
429306,2:26702980:G>C,NM_194248.2:c.1912+91C>G,\N,\N,16/46,Unknown significance,\N,intron_variant,1.36,\N,\N,OTOF
429307,2:26702982:C>T,NM_194248.2:c.1912+89G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,4.667,0.001,1KG_EAS_AF,OTOF
429308,2:26703001:GC>G,NM_194248.2:c.1912+69del,\N,\N,16/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429309,2:26703009:C>G,NM_194248.2:c.1912+62G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,6.228,0.0008,1KG_AFR_AF,OTOF
429310,2:26703019:C>G,NM_194248.2:c.1912+52G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,0.391,0.0014,1KG_AMR_AF,OTOF
429311,2:26703020:G>A,NM_194248.2:c.1912+51C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,0.635,0.000123324,EXAC_NFE_AF,OTOF
429312,2:26703020:G>T,NM_194248.2:c.1912+51C>A,\N,\N,16/46,Unknown significance,\N,intron_variant,0.26,0.0000607533,EXAC_SAS_AF,OTOF
429313,2:26703024:G>A,NM_194248.2:c.1912+47C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,3.6,0.0000607386,EXAC_SAS_AF,OTOF
429314,2:26703025:C>G,NM_194248.2:c.1912+46G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,3.047,\N,\N,OTOF
429315,2:26703032:C>T,NM_194248.2:c.1912+39G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,4.462,0.000587889,EXAC_AFR_AF,OTOF
429316,2:26703034:C>T,NM_194248.2:c.1912+37G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,4.852,0.00012305,EXAC_NFE_AF,OTOF
429317,2:26703042:C>T,NM_194248.2:c.1912+29G>A,\N,\N,16/46,Benign,\N,intron_variant,1.362,0.00934469,EXAC_EAS_AF,OTOF
429318,2:26703044:C>T,NM_194248.2:c.1912+27G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,1.942,0.000152207,EXAC_FIN_AF,OTOF
429319,2:26703045:G>A,NM_194248.2:c.1912+26C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,1.023,0.000121462,EXAC_SAS_AF,OTOF
429320,2:26703049:C>G,NM_194248.2:c.1912+22G>C,\N,\N,16/46,Unknown significance,\N,intron_variant,5.57,0.0000606722,EXAC_SAS_AF,OTOF
429321,2:26703049:C>T,NM_194248.2:c.1912+22G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,6.146,0.0000606722,EXAC_SAS_AF,OTOF
429322,2:26703051:C>T,NM_194248.2:c.1912+20G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,3.437,0.0000869263,EXAC_AMR_AF,OTOF
429323,2:26703053:C>T,NM_194248.2:c.1912+18G>A,\N,\N,16/46,Unknown significance,\N,intron_variant,2.609,0.001,1KG_EAS_AF,OTOF
429324,2:26703054:G>A,NM_194248.2:c.1912+17C>T,\N,\N,16/46,Unknown significance,\N,intron_variant,14.57,0.000167995,EXAC_NFE_AF,OTOF
429325,2:26703062:A>T,NM_194248.2:c.1912+9T>A,\N,\N,16/46,Unknown significance,\N,intron_variant,18.61,0.0000457512,EXAC_NFE_AF,OTOF
429326,2:26703065:A>C,NM_194248.2:c.1912+6T>G,\N,\N,16/46,Unknown significance,\N,splice_region_variant&intron_variant,10.61,0.0000152462,EXAC_NFE_AF,OTOF
429327,2:26703073:A>G,NM_194248.2:c.1910T>C,NP_919224.1:p.Ile637Thr,16/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.3,0.00233146,EXAC_AFR_AF,OTOF
429328,2:26703090:G>T,NM_194248.2:c.1893C>A,NP_919224.1:p.Ile631=,16/47,\N,Unknown significance,\N,synonymous_variant,11.24,0.000347786,EXAC_EAS_AF,OTOF
429329,2:26703092:T>A,NM_194248.2:c.1891A>T,NP_919224.1:p.Ile631Phe,16/47,\N,Unknown significance,\N,missense_variant,25.5,0.0000152077,EXAC_NFE_AF,OTOF
429330,2:26703096:C>CT,NM_194248.2:c.1886dup,NP_919224.1:p.Pro630AlafsTer5,16/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,\N,\N,OTOF
429331,2:26703100:T>C,NM_194248.2:c.1883A>G,NP_919224.1:p.Asp628Gly,16/47,\N,Unknown significance,\N,missense_variant,26.6,0.0000152017,EXAC_NFE_AF,OTOF
429332,2:26703104:C>T,NM_194248.2:c.1879G>A,NP_919224.1:p.Gly627Arg,16/47,\N,Unknown significance,\N,missense_variant,32,0.0000969744,EXAC_AFR_AF,OTOF
429333,2:26703105:G>A,NM_194248.2:c.1878C>T,NP_919224.1:p.Asn626=,16/47,\N,Unknown significance,\N,synonymous_variant,6.5,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
429334,2:26703112:C>T,NM_194248.2:c.1871G>A,NP_919224.1:p.Arg624Gln,16/47,\N,Unknown significance,\N,missense_variant,33,0.000181752,EXAC_SAS_AF,OTOF
429335,2:26703113:G>A,NM_194248.2:c.1870C>T,NP_919224.1:p.Arg624Trp,16/47,\N,Unknown significance,\N,missense_variant,28.6,0.00015124,EXAC_FIN_AF,OTOF
429336,2:26703113:G>C,NM_194248.2:c.1870C>G,NP_919224.1:p.Arg624Gly,16/47,\N,Unknown significance,\N,missense_variant,25.9,0.000226963,EVS_AA_AF,OTOF
429337,2:26703114:G>A,NM_194248.2:c.1869C>T,NP_919224.1:p.Asp623=,16/47,\N,Unknown significance,\N,synonymous_variant,4.059,0.000181752,EXAC_SAS_AF,OTOF
429338,2:26703116:C>T,NM_194248.2:c.1867G>A,NP_919224.1:p.Asp623Asn,16/47,\N,Unknown significance,\N,missense_variant,31,0.00017319,EXAC_AMR_AF,OTOF
429339,2:26703117:G>A,NM_194248.2:c.1866C>T,NP_919224.1:p.Ile622=,16/47,\N,Unknown significance,\N,synonymous_variant,5.876,0.0000151948,EXAC_NFE_AF,OTOF
429340,2:26703122:T>C,NM_194248.2:c.1861A>G,NP_919224.1:p.Met621Val,16/47,\N,Unknown significance,\N,missense_variant,23.9,0.000115929,EXAC_EAS_AF,OTOF
429341,2:26703128:C>T,NM_001287489.1:c.1855G>A,NP_001274418.1:p.Ala619Thr,16/46,\N,Unknown significance,\N,missense_variant,32,0.000303942,EXAC_NFE_AF,OTOF
429342,2:26703132:C>T,NM_194248.2:c.1851G>A,NP_919224.1:p.Leu617=,16/47,\N,Unknown significance,\N,synonymous_variant,14.06,\N,\N,OTOF
429343,2:26703139:G>C,NM_194248.2:c.1844C>G,NP_919224.1:p.Ala615Gly,16/47,\N,Unknown significance,\N,missense_variant,24.9,0.0000866251,EXAC_AMR_AF,OTOF
429344,2:26703142:C>T,NM_194248.2:c.1841G>A,NP_919224.1:p.Gly614Glu,16/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,33,\N,\N,OTOF
429345,2:26703151:A>T,NM_194248.2:c.1832T>A,NP_919224.1:p.Phe611Tyr,16/47,\N,Unknown significance,\N,missense_variant,29.7,0.000121212,EXAC_SAS_AF,OTOF
429346,2:26703168:A>C,NM_194248.2:c.1815T>G,NP_919224.1:p.Gly605=,16/47,\N,Unknown significance,\N,synonymous_variant,0.306,0.000116279,EVS_EA_AF,OTOF
429347,2:26703199:A>T,NM_194248.2:c.1804-20T>A,\N,\N,15/46,Unknown significance,\N,intron_variant,1.399,0.002,1KG_EAS_AF,OTOF
429348,2:26703201:C>T,NM_194248.2:c.1804-22G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,3.832,0.000243784,EXAC_EAS_AF,OTOF
429349,2:26703202:G>A,NM_194248.2:c.1804-23C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,0.336,0.000152812,EXAC_FIN_AF,OTOF
429350,2:26703203:T>C,NM_194248.2:c.1804-24A>G,\N,\N,15/46,Unknown significance,\N,intron_variant,3.527,0.000061192,EXAC_SAS_AF,OTOF
429351,2:26703207:T>C,NM_194248.2:c.1804-28A>G,\N,\N,15/46,Unknown significance,\N,intron_variant,3.942,0.000177179,EXAC_AMR_AF,OTOF
429352,2:26703211:C>T,NM_194248.2:c.1804-32G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,5.708,0.0000312647,EXAC_NFE_AF,OTOF
429353,2:26703215:AG>A,NM_194248.2:c.1804-37del,\N,\N,15/46,Unknown significance,\N,intron_variant,2.727,0.0000889838,EXAC_AMR_AF,OTOF
429354,2:26703219:A>G,NM_194248.2:c.1804-40T>C,\N,\N,15/46,Unknown significance,\N,intron_variant,3.667,0.0000157515,EXAC_NFE_AF,OTOF
429355,2:26703221:G>C,NM_194248.2:c.1804-42C>G,\N,\N,15/46,Unknown significance,\N,intron_variant,1.81,0.000061546,EXAC_SAS_AF,OTOF
429356,2:26703229:G>A,NM_194248.2:c.1804-50C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,5.421,0.000182682,EXAC_AMR_AF,OTOF
429357,2:26703231:C>T,NM_194248.2:c.1804-52G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,2.037,0.000279226,EXAC_AMR_AF,OTOF
429358,2:26703236:G>T,NM_194248.2:c.1804-57C>A,\N,\N,15/46,Unknown significance,\N,intron_variant,5.083,0.0008,1KG_AFR_AF,OTOF
429359,2:26703246:C>T,NM_194248.2:c.1804-67G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,3.711,\N,\N,OTOF
429360,2:26703267:G>C,NM_194248.2:c.1804-88C>G,\N,\N,15/46,Benign,\N,intron_variant,0.639,0.0454,1KG_AFR_AF,OTOF
429361,2:26703282:G>A,NM_194248.2:c.1804-103C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,4.103,0.001,1KG_SAS_AF,OTOF
429362,2:26703295:C>G,NM_194248.2:c.1804-116G>C,\N,\N,15/46,Unknown significance,\N,intron_variant,4.543,\N,\N,OTOF
429363,2:26703327:C>T,NM_194248.2:c.1804-148G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,0.072,\N,\N,OTOF
429364,2:26703328:G>A,NM_194248.2:c.1804-149C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,2.372,0.0015,1KG_AFR_AF,OTOF
429365,2:26703367:G>A,NM_194248.2:c.1804-188C>T,\N,\N,15/46,Benign,\N,intron_variant,4.436,0.0454,1KG_AFR_AF,OTOF
429366,2:26703367:GCA>ACG,NM_194248.2:c.1804-190_1804-188delinsCGT,\N,\N,15/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429367,2:26703368:C>T,NM_194248.2:c.1804-189G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,3.436,\N,\N,OTOF
429368,2:26703369:A>G,NM_194248.2:c.1804-190T>C,\N,\N,15/46,Benign,\N,intron_variant,3.202,1,1KG_EAS_AF,OTOF
429369,2:26703388:G>A,NM_194248.2:c.1804-209C>T,\N,\N,15/46,Benign,\N,intron_variant,0.676,0.006,1KG_EAS_AF,OTOF
429370,2:26703415:G>T,NM_194248.2:c.1804-236C>A,\N,\N,15/46,Benign,\N,intron_variant,2.624,0.0151,1KG_AFR_AF,OTOF
429371,2:26703420:A>G,NM_194248.2:c.1803+234T>C,\N,\N,15/46,Unknown significance,\N,intron_variant,0.529,0.0041,1KG_SAS_AF,OTOF
429372,2:26703422:C>T,NM_194248.2:c.1803+232G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,1.635,\N,\N,OTOF
429373,2:26703438:C>T,NM_194248.2:c.1803+216G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,3.482,0.0008,1KG_AFR_AF,OTOF
429374,2:26703452:G>A,NM_194248.2:c.1803+202C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,4.924,\N,\N,OTOF
429375,2:26703460:AGGCAGTGGACGAG>A,NM_194248.2:c.1803+181_1803+193del,\N,\N,15/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429376,2:26703467:G>A,NM_194248.2:c.1803+187C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,3.039,0.002,1KG_EAS_AF,OTOF
429377,2:26703473:G>A,NM_194248.2:c.1803+181C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,4.672,0.001,1KG_EAS_AF,OTOF
429378,2:26703490:G>A,NM_194248.2:c.1803+164C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,5.603,0.001,1KG_EAS_AF,OTOF
429379,2:26703493:G>A,NM_194248.2:c.1803+161C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,6.985,0.0014,1KG_AMR_AF,OTOF
429380,2:26703511:C>T,NM_194248.2:c.1803+143G>A,\N,\N,15/46,Unknown significance,\N,intron_variant,7.345,0.001,1KG_EUR_AF,OTOF
429381,2:26703562:C>A,NM_194248.2:c.1803+92G>T,\N,\N,15/46,Unknown significance,\N,intron_variant,4.846,0.0008,1KG_AFR_AF,OTOF
429382,2:26703572:C>A,NM_194248.2:c.1803+82G>T,\N,\N,15/46,Unknown significance,\N,intron_variant,5.359,0.0008,1KG_AFR_AF,OTOF
429383,2:26703576:G>C,NM_194248.2:c.1803+78C>G,\N,\N,15/46,Unknown significance,\N,intron_variant,1.588,\N,\N,OTOF
429384,2:26703640:G>A,NM_194248.2:c.1803+14C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,2.523,0.0000156696,EXAC_NFE_AF,OTOF
429385,2:26703643:T>C,NM_194248.2:c.1803+11A>G,\N,\N,15/46,Unknown significance,\N,intron_variant,2.854,0.000116306,EVS_EA_AF,OTOF
429386,2:26703643:T>TG,NM_194248.2:c.1803+10dup,\N,\N,15/46,Unknown significance,\N,intron_variant,9.208,0.00153343,EXAC_AFR_AF,OTOF
429387,2:26703644:G>A,NM_194248.2:c.1803+10C>T,\N,\N,15/46,Unknown significance,\N,intron_variant,10.41,0.0014,1KG_AMR_AF,OTOF
429388,2:26703646:G>A,NM_194248.2:c.1803+8C>T,\N,\N,15/46,Unknown significance,\N,splice_region_variant&intron_variant,6.878,0.000305399,EXAC_SAS_AF,OTOF
429389,2:26703652:A>C,NM_194248.2:c.1803+2T>G,\N,\N,15/46,Unknown significance,\N,splice_donor_variant,24.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429390,2:26703657:C>T,NM_194248.2:c.1800G>A,NP_919224.1:p.Ser600=,15/47,\N,Likely benign,\N,synonymous_variant,14.76,0.0000155434,EXAC_NFE_AF,OTOF
429391,2:26703658:G>A,NM_194248.2:c.1799C>T,NP_919224.1:p.Ser600Leu,15/47,\N,Unknown significance,\N,missense_variant,23.2,0.000101031,EXAC_AFR_AF,OTOF
429392,2:26703662:T>A,NM_194248.2:c.1795A>T,NP_919224.1:p.Ile599Phe,15/47,\N,Unknown significance,\N,missense_variant,22,0.000226963,EVS_AA_AF,OTOF
429393,2:26703666:C>T,NM_194248.2:c.1791G>A,NP_919224.1:p.Thr597=,15/47,\N,Unknown significance,\N,synonymous_variant,16.66,0.0008,1KG_AFR_AF,OTOF
429394,2:26703667:G>A,NM_194248.2:c.1790C>T,NP_919224.1:p.Thr597Met,15/47,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_EAS_AF,OTOF
429395,2:26703669:G>A,NM_194248.2:c.1788C>T,NP_919224.1:p.Ala596=,15/47,\N,Unknown significance,\N,synonymous_variant,9.216,0.000174459,EXAC_AMR_AF,OTOF
429396,2:26703677:C>T,NM_001287489.1:c.1780G>A,NP_001274418.1:p.Glu594Lys,15/46,\N,Pathogenic,Deafness| non-syndromic,missense_variant,27.1,\N,\N,OTOF
429397,2:26703678:C>T,NM_194248.2:c.1779G>A,NP_919224.1:p.Val593=,15/47,\N,Unknown significance,\N,synonymous_variant,11.62,0.0000607091,EXAC_SAS_AF,OTOF
429398,2:26703679:A>C,NM_194248.2:c.1778T>G,NP_919224.1:p.Val593Gly,15/47,\N,Unknown significance,\N,missense_variant,25.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429399,2:26703684:C>A,NM_194248.2:c.1773G>T,NP_919224.1:p.Val591=,15/47,\N,Unknown significance,\N,synonymous_variant,13.46,0.0000154231,EXAC_NFE_AF,OTOF
429400,2:26703689:C>T,NM_194248.2:c.1768G>A,NP_919224.1:p.Glu590Lys,15/47,\N,Unknown significance,\N,missense_variant,26.8,0.0000606649,EXAC_SAS_AF,OTOF
429401,2:26703707:C>T,NM_194248.2:c.1750G>A,NP_919224.1:p.Glu584Lys,15/47,\N,Unknown significance,\N,missense_variant,25.7,0.0000153898,EXAC_NFE_AF,OTOF
429402,2:26703710:G>C,NM_194248.2:c.1747C>G,NP_919224.1:p.Pro583Ala,15/47,\N,Unknown significance,\N,missense_variant,12.24,0.0000153879,EXAC_NFE_AF,OTOF
429403,2:26703716:AG>A,NM_194248.2:c.1740del,NP_919224.1:p.Ser581ProfsTer41,15/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,29.1,\N,\N,OTOF
429404,2:26703719:T>G,NM_194248.2:c.1738A>C,NP_919224.1:p.Thr580Pro,15/47,\N,Unknown significance,\N,missense_variant,14.32,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429405,2:26703725:C>G,NM_194248.2:c.1732G>C,NP_919224.1:p.Val578Leu,15/47,\N,Likely benign,\N,missense_variant,12.91,0.0014,1KG_AMR_AF,OTOF
429406,2:26703730:T>C,NM_194248.2:c.1727A>G,NP_919224.1:p.Glu576Gly,15/47,\N,Unknown significance,\N,missense_variant,26.9,0.0000153666,EXAC_NFE_AF,OTOF
429407,2:26703730:T>G,NM_194248.2:c.1727A>C,NP_919224.1:p.Glu576Ala,15/47,\N,Unknown significance,\N,missense_variant,26.5,0.000116279,EVS_EA_AF,OTOF
429408,2:26703734:C>T,NM_194248.2:c.1723G>A,NP_919224.1:p.Val575Met,15/47,\N,Benign,\N,missense_variant,23.3,0.0491,1KG_SAS_AF,OTOF
429409,2:26703739:A>C,NM_194248.2:c.1718T>G,NP_919224.1:p.Leu573Arg,15/47,\N,Pathogenic,Deafness| autosomal recessive 9,missense_variant,26.6,\N,\N,OTOF
429410,2:26703744:C>T,NM_194248.2:c.1713G>A,NP_919224.1:p.Leu571=,15/47,\N,Likely benign,\N,synonymous_variant,12.05,0.0000870019,EXAC_AMR_AF,OTOF
429411,2:26703745:A>G,NM_194248.2:c.1712T>C,NP_919224.1:p.Leu571Pro,15/47,\N,Unknown significance,\N,missense_variant,26.5,0.000466999,EXAC_FIN_AF,OTOF
429412,2:26703749:G>A,NM_194248.2:c.1708C>T,NP_919224.1:p.Leu570=,15/47,\N,Unknown significance,\N,synonymous_variant,8.281,0.000690335,EXAC_AFR_AF,OTOF
429413,2:26703754:C>T,NM_194248.2:c.1703G>A,NP_919224.1:p.Arg568Gln,15/47,\N,Unknown significance,\N,missense_variant,34,0.000181818,EXAC_SAS_AF,OTOF
429414,2:26703754:CG>C,NM_194248.2:c.1702del,NP_919224.1:p.Arg568GlyfsTer11,15/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000985804,EXAC_AFR_AF,OTOF
429415,2:26703755:G>A,NM_194248.2:c.1702C>T,NP_919224.1:p.Arg568Trp,15/47,\N,Unknown significance,\N,missense_variant,33,0.00001536,EXAC_NFE_AF,OTOF
429416,2:26703757:G>T,NM_194248.2:c.1700C>A,NP_919224.1:p.Ala567Asp,15/47,\N,Unknown significance,\N,missense_variant,27.9,0.000174004,EXAC_AMR_AF,OTOF
429417,2:26703758:C>T,NM_194248.2:c.1699G>A,NP_919224.1:p.Ala567Thr,15/47,\N,Unknown significance,\N,missense_variant,29.5,0.000522011,EXAC_AMR_AF,OTOF
429418,2:26703760:C>T,NM_194248.2:c.1697G>A,NP_919224.1:p.Arg566Gln,15/47,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_EAS_AF,OTOF
429419,2:26703760:C>A,NM_194248.2:c.1697G>T,NP_919224.1:p.Arg566Leu,15/47,\N,Unknown significance,\N,missense_variant,32,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429420,2:26703761:G>A,NM_194248.2:c.1696C>T,NP_919224.1:p.Arg566Trp,15/47,\N,Unknown significance,\N,missense_variant,33,0.0000605987,EXAC_SAS_AF,OTOF
429421,2:26703771:A>C,NM_194248.2:c.1686T>G,NP_919224.1:p.Gly562=,15/47,\N,Benign,\N,synonymous_variant,0.004,0.01,OTO_TR_AF,OTOF
429422,2:26703776:C>T,NM_194248.2:c.1681G>A,NP_919224.1:p.Glu561Lys,15/47,\N,Unknown significance,\N,missense_variant,33,0.0000307267,EXAC_NFE_AF,OTOF
429423,2:26703778:C>G,NM_194248.2:c.1679G>C,NP_919224.1:p.Gly560Ala,15/47,\N,Unknown significance,\N,missense_variant,25.4,0.0000153615,EXAC_NFE_AF,OTOF
429424,2:26703779:C>A,NM_194248.2:c.1678G>T,NP_919224.1:p.Gly560Trp,15/47,\N,Unknown significance,\N,missense_variant,33,0.0000614477,EXAC_NFE_AF,OTOF
429425,2:26703788:C>T,NM_194248.2:c.1669G>A,NP_919224.1:p.Glu557Lys,15/47,\N,Unknown significance,\N,missense_variant,33,0.0000984058,EXAC_AFR_AF,OTOF
429426,2:26703805:TC>T,NM_194248.2:c.1651del,NP_919224.1:p.Glu551SerfsTer5,15/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,31,\N,\N,OTOF
429427,2:26703806:C>T,NM_194248.2:c.1651G>A,NP_919224.1:p.Glu551Lys,15/47,\N,Unknown significance,\N,missense_variant,25.1,0.000116496,EXAC_EAS_AF,OTOF
429428,2:26703810:C>T,NM_194248.2:c.1647G>A,NP_919224.1:p.Leu549=,15/47,\N,Unknown significance,\N,synonymous_variant,11.37,0.000116496,EXAC_EAS_AF,OTOF
429429,2:26703813:C>T,NM_194248.2:c.1644G>A,NP_919224.1:p.Leu548=,15/47,\N,Unknown significance,\N,synonymous_variant,10.91,\N,\N,OTOF
429430,2:26703816:C>G,NM_194248.2:c.1641G>C,NP_919224.1:p.Thr547=,15/47,\N,Unknown significance,\N,synonymous_variant,14.09,0.0000153714,EXAC_NFE_AF,OTOF
429431,2:26703817:G>A,NM_194248.2:c.1640C>T,NP_919224.1:p.Thr547Met,15/47,\N,Benign,\N,missense_variant,30,0.0125,OTO_CO_AF,OTOF
429432,2:26703817:G>T,NM_194248.2:c.1640C>A,NP_919224.1:p.Thr547Lys,15/47,\N,Unknown significance,\N,missense_variant,32,0.0000153704,EXAC_NFE_AF,OTOF
429433,2:26703826:C>T,NM_194248.2:c.1631G>A,NP_919224.1:p.Arg544His,15/47,\N,Unknown significance,\N,missense_variant,34,0.000174368,EXAC_AMR_AF,OTOF
429434,2:26703827:G>A,NM_194248.2:c.1630C>T,NP_919224.1:p.Arg544Cys,15/47,\N,Unknown significance,\N,missense_variant,33,0.00188324,EXAC_FIN_AF,OTOF
429435,2:26703829:G>T,NM_194248.2:c.1628C>A,NP_919224.1:p.Thr543Lys,15/47,\N,Unknown significance,\N,missense_variant,25.6,0.000087184,EXAC_AMR_AF,OTOF
429436,2:26703836:C>T,NM_194248.2:c.1621G>A,NP_919224.1:p.Gly541Ser,15/47,\N,Pathogenic,Auditory neuropathy,missense_variant,33,0.0000154116,EXAC_NFE_AF,OTOF
429437,2:26703837:G>A,NM_194248.2:c.1620C>T,NP_919224.1:p.Tyr540=,15/47,\N,Unknown significance,\N,synonymous_variant,7.365,0.000116306,EVS_EA_AF,OTOF
429438,2:26703841:A>G,NM_194248.2:c.1616T>C,NP_919224.1:p.Met539Thr,15/47,\N,Unknown significance,\N,missense_variant,25.4,0.000158831,EXAC_FIN_AF,OTOF
429439,2:26703843:G>T,NM_194248.2:c.1614C>A,NP_919224.1:p.Asn538Lys,15/47,\N,Unknown significance,\N,missense_variant,26.2,\N,\N,OTOF
429440,2:26703844:T>C,NM_194248.2:c.1613A>G,NP_919224.1:p.Asn538Ser,15/47,\N,Unknown significance,\N,missense_variant,24.1,0.0000154431,EXAC_NFE_AF,OTOF
429441,2:26703847:AC>A,NM_194248.2:c.1609del,NP_919224.1:p.Val537Ter,15/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,\N,\N,OTOF
429442,2:26703847:A>C,NM_001287489.1:c.1610T>G,NP_001274418.1:p.Val537Gly,15/46,\N,Unknown significance,\N,missense_variant,25,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429443,2:26703850:C>T,NM_194248.2:c.1607G>A,NP_919224.1:p.Trp536Ter,15/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,39,\N,\N,OTOF
429444,2:26703850:C>G,NM_194248.2:c.1607G>C,NP_919224.1:p.Trp536Ser,15/47,\N,Unknown significance,\N,missense_variant,31,0.000061177,EXAC_SAS_AF,OTOF
429445,2:26703855:TG>T,NM_194248.2:c.1601del,NP_919224.1:p.Pro534GlnfsTer4,15/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,\N,\N,OTOF
429446,2:26703858:G>A,NM_194248.2:c.1599C>T,NP_919224.1:p.Gly533=,15/47,\N,Unknown significance,\N,synonymous_variant,5.839,\N,\N,OTOF
429447,2:26703863:G>A,NM_194248.2:c.1594C>T,NP_919224.1:p.Leu532=,15/47,\N,Unknown significance,\N,synonymous_variant,8.692,\N,\N,OTOF
429448,2:26703864:T>G,NM_194248.2:c.1593A>C,NP_919224.1:p.Thr531=,15/47,\N,Unknown significance,\N,synonymous_variant,4.316,0.000335345,EXAC_FIN_AF,OTOF
429449,2:26703865:G>A,NM_194248.2:c.1592C>T,NP_919224.1:p.Thr531Ile,15/47,\N,Unknown significance,\N,missense_variant,28.2,\N,\N,OTOF
429450,2:26703866:T>C,NM_194248.2:c.1591A>G,NP_919224.1:p.Thr531Ala,15/47,\N,Unknown significance,\N,missense_variant,25.2,0.0000158228,EXAC_NFE_AF,OTOF
429451,2:26703867:G>A,NM_194248.2:c.1590C>T,NP_919224.1:p.Pro530=,15/47,\N,Unknown significance,\N,synonymous_variant,8.714,0.000116306,EVS_EA_AF,OTOF
429452,2:26703873:G>A,NM_194248.2:c.1584C>T,NP_919224.1:p.Phe528=,15/47,\N,Unknown significance,\N,synonymous_variant,9.076,0.000176491,EXAC_FIN_AF,OTOF
429453,2:26703883:G>A,NM_194248.2:c.1580-6C>T,\N,\N,14/46,Benign,\N,splice_region_variant&intron_variant,6.566,0.0106,1KG_AFR_AF,OTOF
429454,2:26703884:C>A,NM_194248.2:c.1580-7G>T,\N,\N,14/46,Benign,\N,splice_region_variant&intron_variant,7.926,0.0106148,EXAC_AFR_AF,OTOF
429455,2:26703884:C>CA,NM_194248.2:c.1580-8dup,\N,\N,14/46,Unknown significance,\N,splice_region_variant&intron_variant,7.988,0.000110571,EXAC_AFR_AF,OTOF
429456,2:26703887:T>C,NM_194248.2:c.1580-10A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,4.862,0.000116306,EVS_EA_AF,OTOF
429457,2:26703887:T>G,NM_194248.2:c.1580-10A>C,\N,\N,14/46,Unknown significance,\N,intron_variant,6.386,0.000195746,EXAC_SAS_AF,OTOF
429458,2:26703888:G>A,NM_194248.2:c.1580-11C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,4.615,0.000017111,EXAC_NFE_AF,OTOF
429459,2:26703895:A>G,NM_194248.2:c.1580-18T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,2.264,\N,\N,OTOF
429460,2:26703901:A>AG,NM_194248.2:c.1580-25dup,\N,\N,14/46,Unknown significance,\N,intron_variant,0.719,0.000118427,EXAC_AFR_AF,OTOF
429461,2:26703904:G>A,NM_194248.2:c.1580-27C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,4.369,\N,\N,OTOF
429462,2:26703904:G>T,NM_194248.2:c.1580-27C>A,\N,\N,14/46,Unknown significance,\N,intron_variant,2.496,\N,\N,OTOF
429463,2:26703910:C>T,NM_194248.2:c.1580-33G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,0.938,0.001,1KG_SAS_AF,OTOF
429464,2:26703911:G>A,NM_194248.2:c.1580-34C>T,\N,\N,14/46,Benign,\N,intron_variant,0.862,0.0181169,EXAC_AFR_AF,OTOF
429465,2:26703915:C>T,NM_194248.2:c.1580-38G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,4.458,0.0008,1KG_AFR_AF,OTOF
429466,2:26703928:T>C,NM_194248.2:c.1580-51A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,2.202,0.0000228498,EXAC_NFE_AF,OTOF
429467,2:26703944:C>A,NM_194248.2:c.1580-67G>T,\N,\N,14/46,Unknown significance,\N,intron_variant,6.023,\N,\N,OTOF
429468,2:26703973:G>A,NM_194248.2:c.1580-96C>T,\N,\N,14/46,Benign,\N,intron_variant,5.593,0.0582,1KG_AFR_AF,OTOF
429469,2:26703994:A>C,NM_194248.2:c.1580-117T>G,\N,\N,14/46,Benign,\N,intron_variant,5.29,0.0212,1KG_AFR_AF,OTOF
429470,2:26704003:A>G,NM_194248.2:c.1580-126T>C,\N,\N,14/46,Benign,\N,intron_variant,0.282,0.0109,1KG_EAS_AF,OTOF
429471,2:26704012:T>G,NM_194248.2:c.1580-135A>C,\N,\N,14/46,Unknown significance,\N,intron_variant,3.25,0.0008,1KG_AFR_AF,OTOF
429472,2:26704022:T>C,NM_194248.2:c.1580-145A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,0.939,\N,\N,OTOF
429473,2:26704030:C>G,NM_194248.2:c.1580-153G>C,\N,\N,14/46,Unknown significance,\N,intron_variant,1.588,\N,\N,OTOF
429474,2:26704078:G>A,NM_194248.2:c.1580-201C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,6.437,\N,\N,OTOF
429475,2:26704078:G>T,NM_194248.2:c.1580-201C>A,\N,\N,14/46,Unknown significance,\N,intron_variant,4.153,0.0008,1KG_AFR_AF,OTOF
429476,2:26704087:G>A,NM_194248.2:c.1580-210C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,4.295,0.001,1KG_SAS_AF,OTOF
429477,2:26704102:G>C,NM_194248.2:c.1580-225C>G,\N,\N,14/46,Unknown significance,\N,intron_variant,0.621,\N,\N,OTOF
429478,2:26704145:G>T,NM_194248.2:c.1580-268C>A,\N,\N,14/46,Unknown significance,\N,intron_variant,0.955,0.001,1KG_EAS_AF,OTOF
429479,2:26704197:C>T,NM_194248.2:c.1580-320G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,5.862,\N,\N,OTOF
429480,2:26704225:C>G,NM_194248.2:c.1580-348G>C,\N,\N,14/46,Benign,\N,intron_variant,2.498,0.0098,1KG_AFR_AF,OTOF
429481,2:26704237:G>A,NM_194248.2:c.1580-360C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,4.362,0.001,1KG_EAS_AF,OTOF
429482,2:26704241:A>G,NM_194248.2:c.1580-364T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,5.284,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
429483,2:26704248:C>T,NM_194248.2:c.1580-371G>A,\N,\N,14/46,Benign,\N,intron_variant,1.017,0.0106,1KG_AFR_AF,OTOF
429484,2:26704251:T>G,NM_194248.2:c.1580-374A>C,\N,\N,14/46,Unknown significance,\N,intron_variant,5.206,\N,\N,OTOF
429485,2:26704258:C>A,NM_194248.2:c.1580-381G>T,\N,\N,14/46,Unknown significance,\N,intron_variant,9.497,0.002,1KG_EAS_AF,OTOF
429486,2:26704321:G>A,NM_194248.2:c.1580-444C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,6.032,0.003,1KG_EAS_AF,OTOF
429487,2:26704352:T>C,NM_194248.2:c.1580-475A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,2.146,\N,\N,OTOF
429488,2:26704360:T>C,NM_194248.2:c.1580-483A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,1.703,\N,\N,OTOF
429489,2:26704407:T>C,NM_194248.2:c.1580-530A>G,\N,\N,14/46,Benign,\N,intron_variant,2.154,0.1218,1KG_AFR_AF,OTOF
429490,2:26704409:T>G,NM_194248.2:c.1580-532A>C,\N,\N,14/46,Unknown significance,\N,intron_variant,4.776,0.0029,1KG_AMR_AF,OTOF
429491,2:26704439:T>C,NM_194248.2:c.1580-562A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,1.853,0.001,1KG_EAS_AF,OTOF
429492,2:26704453:T>C,NM_194248.2:c.1580-576A>G,\N,\N,14/46,Benign,\N,intron_variant,2.862,0.1233,1KG_AFR_AF,OTOF
429493,2:26704456:T>C,NM_194248.2:c.1580-579A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,0.058,0.0008,1KG_AFR_AF,OTOF
429494,2:26704465:A>G,NM_194248.2:c.1580-588T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,4.182,0.0008,1KG_AFR_AF,OTOF
429495,2:26704468:A>C,NM_194248.2:c.1580-591T>G,\N,\N,14/46,Benign,\N,intron_variant,0.49,0.3436,1KG_SAS_AF,OTOF
429496,2:26704491:A>C,NM_194248.2:c.1580-614T>G,\N,\N,14/46,Unknown significance,\N,intron_variant,7.579,\N,\N,OTOF
429497,2:26704513:G>A,NM_194248.2:c.1580-636C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,2.353,0.001,1KG_EAS_AF,OTOF
429498,2:26704516:C>A,NM_194248.2:c.1580-639G>T,\N,\N,14/46,Unknown significance,\N,intron_variant,2.124,\N,\N,OTOF
429499,2:26704532:C>T,NM_194248.2:c.1580-655G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,0.736,0.0031,1KG_SAS_AF,OTOF
429500,2:26704543:T>G,NM_194248.2:c.1580-666A>C,\N,\N,14/46,Unknown significance,\N,intron_variant,2.444,\N,\N,OTOF
429501,2:26704580:A>G,NM_194248.2:c.1579+694T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,6.069,0.0014,1KG_AMR_AF,OTOF
429502,2:26704583:C>G,NM_194248.2:c.1579+691G>C,\N,\N,14/46,Benign,\N,intron_variant,4.194,0.0061,1KG_AFR_AF,OTOF
429503,2:26704585:C>G,NM_194248.2:c.1579+689G>C,\N,\N,14/46,Unknown significance,\N,intron_variant,6.734,0.001,1KG_SAS_AF,OTOF
429504,2:26704604:C>T,NM_194248.2:c.1579+670G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,6.664,0.001,1KG_SAS_AF,OTOF
429505,2:26704606:A>G,NM_194248.2:c.1579+668T>C,\N,\N,14/46,Benign,\N,intron_variant,1.398,0.0061,1KG_SAS_AF,OTOF
429506,2:26704637:A>AG,NM_194248.2:c.1579+636dup,\N,\N,14/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429507,2:26704650:C>A,NM_194248.2:c.1579+624G>T,\N,\N,14/46,Unknown significance,\N,intron_variant,5.714,\N,\N,OTOF
429508,2:26704651:G>A,NM_194248.2:c.1579+623C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,1.855,0.002,1KG_EUR_AF,OTOF
429509,2:26704653:C>A,NM_194248.2:c.1579+621G>T,\N,\N,14/46,Unknown significance,\N,intron_variant,3.991,0.001,1KG_EUR_AF,OTOF
429510,2:26704682:C>T,NM_194248.2:c.1579+592G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,3.145,0.001,1KG_SAS_AF,OTOF
429511,2:26704778:A>G,NM_194248.2:c.1579+496T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,3.241,\N,\N,OTOF
429512,2:26704788:C>T,NM_194248.2:c.1579+486G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,1.72,0.002,1KG_EAS_AF,OTOF
429513,2:26704822:T>C,NM_194248.2:c.1579+452A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,1.925,\N,\N,OTOF
429514,2:26704847:G>A,NM_194248.2:c.1579+427C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,0.652,\N,\N,OTOF
429515,2:26704867:A>G,NM_194248.2:c.1579+407T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,0.527,0.001,1KG_EUR_AF,OTOF
429516,2:26704875:G>A,NM_194248.2:c.1579+399C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,0.35,0.001,1KG_EAS_AF,OTOF
429517,2:26704891:A>G,NM_194248.2:c.1579+383T>C,\N,\N,14/46,Benign,\N,intron_variant,3.232,0.0069,1KG_EAS_AF,OTOF
429518,2:26704906:C>CAT,NM_194248.2:c.1579+366_1579+367dup,\N,\N,14/46,Benign,\N,intron_variant,1.38,0.0144,1KG_AFR_AF,OTOF
429519,2:26704916:T>C,NM_194248.2:c.1579+358A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,1.157,\N,\N,OTOF
429520,2:26704938:A>G,NM_194248.2:c.1579+336T>C,\N,\N,14/46,Benign,\N,intron_variant,2.208,0.0719,1KG_AFR_AF,OTOF
429521,2:26704946:A>G,NM_194248.2:c.1579+328T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,2.366,0.001,1KG_EAS_AF,OTOF
429522,2:26704973:T>C,NM_194248.2:c.1579+301A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,0.322,\N,\N,OTOF
429523,2:26704980:A>G,NM_194248.2:c.1579+294T>C,\N,\N,14/46,Unknown significance,\N,intron_variant,0.562,\N,\N,OTOF
429524,2:26704991:A>G,NM_194248.2:c.1579+283T>C,\N,\N,14/46,Benign,\N,intron_variant,1.614,0.0218,1KG_EAS_AF,OTOF
429525,2:26705058:A>G,NM_194248.2:c.1579+216T>C,\N,\N,14/46,Benign,\N,intron_variant,3.645,0.0051,1KG_SAS_AF,OTOF
429526,2:26705074:T>C,NM_194248.2:c.1579+200A>G,\N,\N,14/46,Unknown significance,\N,intron_variant,3.044,0.003,1KG_EAS_AF,OTOF
429527,2:26705085:C>T,NM_194248.2:c.1579+189G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,12.75,\N,\N,OTOF
429528,2:26705088:AG>A,NM_194248.2:c.1579+185del,\N,\N,14/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429529,2:26705091:C>T,NM_194248.2:c.1579+183G>A,\N,\N,14/46,Benign,\N,intron_variant,10.15,0.0051,1KG_SAS_AF,OTOF
429530,2:26705113:C>T,NM_194248.2:c.1579+161G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,5.03,\N,\N,OTOF
429531,2:26705127:C>T,NM_194248.2:c.1579+147G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,2.825,\N,\N,OTOF
429532,2:26705159:G>T,NM_194248.2:c.1579+115C>A,\N,\N,14/46,Unknown significance,\N,intron_variant,2.031,\N,\N,OTOF
429533,2:26705185:C>T,NM_194248.2:c.1579+89G>A,\N,\N,14/46,Benign,\N,intron_variant,3.077,0.0099,1KG_EAS_AF,OTOF
429534,2:26705189:G>A,NM_194248.2:c.1579+85C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,13.43,\N,\N,OTOF
429535,2:26705203:G>T,NM_194248.2:c.1579+71C>A,\N,\N,14/46,Unknown significance,\N,intron_variant,0.62,0.0015,1KG_AFR_AF,OTOF
429536,2:26705204:C>T,NM_194248.2:c.1579+70G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,4.166,0.0008,1KG_AFR_AF,OTOF
429537,2:26705232:A>T,NM_194248.2:c.1579+42T>A,\N,\N,14/46,Unknown significance,\N,intron_variant,5.092,0.0000872296,EXAC_AMR_AF,OTOF
429538,2:26705236:C>T,NM_194248.2:c.1579+38G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,1.528,0.0008,1KG_AFR_AF,OTOF
429539,2:26705239:C>T,NM_194248.2:c.1579+35G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,3.178,0.00113122,EXAC_OTH_AF,OTOF
429540,2:26705242:C>T,NM_194248.2:c.1579+32G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,5.872,0.0000460815,EXAC_NFE_AF,OTOF
429541,2:26705247:C>G,NM_194248.2:c.1579+27G>C,\N,\N,14/46,Unknown significance,\N,intron_variant,3.068,0.000242866,EXAC_SAS_AF,OTOF
429542,2:26705253:A>C,NM_194248.2:c.1579+21T>G,\N,\N,14/46,Unknown significance,\N,intron_variant,1.565,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429543,2:26705255:C>T,NM_194248.2:c.1579+19G>A,\N,\N,14/46,Benign,\N,intron_variant,3.02,0.0112524,EXAC_AFR_AF,OTOF
429544,2:26705256:G>A,NM_194248.2:c.1579+18C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,1.789,0.0000868056,EXAC_AMR_AF,OTOF
429545,2:26705257:G>C,NM_194248.2:c.1579+17C>G,\N,\N,14/46,Unknown significance,\N,intron_variant,0.233,\N,\N,OTOF
429546,2:26705260:C>G,NM_194248.2:c.1579+14G>C,\N,\N,14/46,Unknown significance,\N,intron_variant,8.566,0.000293141,EXAC_AFR_AF,OTOF
429547,2:26705260:C>T,NM_194248.2:c.1579+14G>A,\N,\N,14/46,Unknown significance,\N,intron_variant,9.13,0.000116063,EXAC_EAS_AF,OTOF
429548,2:26705265:G>A,NM_194248.2:c.1579+9C>T,\N,\N,14/46,Unknown significance,\N,intron_variant,4.995,0.0000305698,EXAC_NFE_AF,OTOF
429549,2:26705270:T>A,NM_194248.2:c.1579+4A>T,\N,\N,14/46,Unknown significance,\N,splice_region_variant&intron_variant,16.42,0.000151561,EXAC_FIN_AF,OTOF
429550,2:26705271:G>A,NM_194248.2:c.1579+3C>T,\N,\N,14/46,Unknown significance,\N,splice_region_variant&intron_variant,13.82,0.0000605987,EXAC_SAS_AF,OTOF
429551,2:26705283:C>T,NM_194248.2:c.1570G>A,NP_919224.1:p.Gly524Arg,14/47,\N,Unknown significance,\N,missense_variant,34,0.000213291,EXAC_NFE_AF,OTOF
429552,2:26705284:G>A,NM_194248.2:c.1569C>T,NP_919224.1:p.Asp523=,14/47,\N,Unknown significance,\N,synonymous_variant,10.94,0.000232612,EVS_EA_AF,OTOF
429553,2:26705285:T>C,NM_001287489.1:c.1568A>G,NP_001274418.1:p.Asp523Gly,14/46,\N,Unknown significance,\N,missense_variant,26.9,0.0000152304,EXAC_NFE_AF,OTOF
429554,2:26705285:TCATTAGAAATCTTGCG>T,NM_194248.2:c.1552_1567del,NP_919224.1:p.Arg518ThrfsTer15,14/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,35,\N,\N,OTOF
429555,2:26705300:C>A,NM_194248.2:c.1553G>T,NP_919224.1:p.Arg518Leu,14/47,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,OTOF
429556,2:26705300:C>T,NM_194248.2:c.1553G>A,NP_919224.1:p.Arg518His,14/47,\N,Unknown significance,\N,missense_variant,34,0.000060584,EXAC_SAS_AF,OTOF
429557,2:26705301:G>A,NM_194248.2:c.1552C>T,NP_919224.1:p.Arg518Cys,14/47,\N,Unknown significance,\N,missense_variant,32,0.000231911,EXAC_EAS_AF,OTOF
429558,2:26705302:C>T,NM_194248.2:c.1551G>A,NP_919224.1:p.Leu517=,14/47,\N,Unknown significance,\N,synonymous_variant,14.49,0.0000152138,EXAC_NFE_AF,OTOF
429559,2:26705304:G>C,NM_194248.2:c.1549C>G,NP_919224.1:p.Leu517Val,14/47,\N,Unknown significance,\N,missense_variant,26.1,0.000015211,EXAC_NFE_AF,OTOF
429560,2:26705305:G>A,NM_194248.2:c.1548C>T,NP_919224.1:p.Asp516=,14/47,\N,Unknown significance,\N,synonymous_variant,11.3,0.0000865951,EXAC_AMR_AF,OTOF
429561,2:26705308:A>G,NM_194248.2:c.1545T>C,NP_919224.1:p.Ile515=,14/47,\N,Unknown significance,\N,synonymous_variant,9.356,0.0000606061,EXAC_SAS_AF,OTOF
429562,2:26705309:A>G,NM_001287489.1:c.1544T>C,NP_001274418.1:p.Ile515Thr,14/46,\N,Pathogenic,Deafness| non-syndromic,missense_variant,24.2,0.0000865651,EXAC_AMR_AF,OTOF
429563,2:26705316:G>T,NM_194248.2:c.1537C>A,NP_919224.1:p.His513Asn,14/47,\N,Unknown significance,\N,missense_variant,28.6,0.0000151957,EXAC_NFE_AF,OTOF
429564,2:26705323:G>A,NM_194248.2:c.1530C>T,NP_919224.1:p.Ile510=,14/47,\N,Likely benign,\N,synonymous_variant,15.19,0.003125,OTO_CO_AF,OTOF
429565,2:26705328:C>T,NM_194248.2:c.1525G>A,NP_919224.1:p.Ala509Thr,14/47,\N,Unknown significance,\N,missense_variant,26.2,0.000115902,EXAC_EAS_AF,OTOF
429566,2:26705331:C>T,NM_194248.2:c.1522G>A,NP_919224.1:p.Val508Met,14/47,\N,Benign,\N,missense_variant,25.8,0.0051,1KG_SAS_AF,OTOF
429567,2:26705332:G>A,NM_194248.2:c.1521C>T,NP_919224.1:p.Asp507=,14/47,\N,Unknown significance,\N,synonymous_variant,10.77,0.000015181,EXAC_NFE_AF,OTOF
429568,2:26705335:G>A,NM_194248.2:c.1518C>T,NP_919224.1:p.Asn506=,14/47,\N,Unknown significance,\N,synonymous_variant,9.596,0.0000865351,EXAC_AMR_AF,OTOF
429569,2:26705339:A>AC,NM_194248.2:c.1513dup,NP_919224.1:p.Val505GlyfsTer12,14/47,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,OTOF
429570,2:26705339:A>C,NM_194248.2:c.1514T>G,NP_919224.1:p.Val505Gly,14/47,\N,Unknown significance,\N,missense_variant,27.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429571,2:26705341:C>A,NM_194248.2:c.1512G>T,NP_919224.1:p.Lys504Asn,14/47,\N,Unknown significance,\N,missense_variant,23.3,0.0000151759,EXAC_NFE_AF,OTOF
429572,2:26705344:G>T,NM_194248.2:c.1509C>A,NP_919224.1:p.Asp503Glu,14/47,\N,Unknown significance,\N,missense_variant,23.6,0.0000151759,EXAC_NFE_AF,OTOF
429573,2:26705347:C>T,NM_194248.2:c.1506G>A,NP_919224.1:p.Ser502=,14/47,\N,Likely benign,\N,synonymous_variant,16.14,0.00198996,EXAC_AMR_AF,OTOF
429574,2:26705348:G>A,NM_001287489.1:c.1505C>T,NP_001274418.1:p.Ser502Leu,14/46,\N,Unknown significance,\N,missense_variant,26.4,0.000116306,EVS_EA_AF,OTOF
429575,2:26705354:C>T,NM_194248.2:c.1499G>A,NP_919224.1:p.Arg500Gln,14/47,\N,Unknown significance,\N,missense_variant,28.5,0.000116306,EVS_EA_AF,OTOF
429576,2:26705355:G>A,NM_194248.2:c.1498C>T,NP_919224.1:p.Arg500Ter,14/47,\N,Unknown significance,\N,stop_gained,40,0.0000865351,EXAC_AMR_AF,OTOF
429577,2:26705364:C>T,NM_194248.2:c.1489G>A,NP_919224.1:p.Val497Met,14/47,\N,Unknown significance,\N,missense_variant,29.5,0.000116306,EVS_EA_AF,OTOF
429578,2:26705372:C>A,NM_194248.2:c.1481G>T,NP_919224.1:p.Arg494Leu,14/47,\N,Unknown significance,\N,missense_variant,35,0.000116279,EVS_EA_AF,OTOF
429579,2:26705372:C>T,NM_194248.2:c.1481G>A,NP_919224.1:p.Arg494His,14/47,\N,Unknown significance,\N,missense_variant,35,0.0000151731,EXAC_NFE_AF,OTOF
429580,2:26705373:G>A,NM_194248.2:c.1480C>T,NP_919224.1:p.Arg494Cys,14/47,\N,Unknown significance,\N,missense_variant,34,0.000030349,EXAC_NFE_AF,OTOF
429581,2:26705382:G>A,NM_194248.2:c.1471C>T,NP_919224.1:p.Leu491Phe,14/47,\N,Unknown significance,\N,missense_variant,27.1,0.000116279,EVS_EA_AF,OTOF
429582,2:26705383:TG>T,NM_194248.2:c.1469del,NP_919224.1:p.Pro490HisfsTer6,14/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000303711,EXAC_NFE_AF,OTOF
429583,2:26705383:T>G,NM_194248.2:c.1470A>C,NP_919224.1:p.Pro490=,14/47,\N,Unknown significance,\N,synonymous_variant,6.405,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429584,2:26705384:G>C,NM_194248.2:c.1469C>G,NP_919224.1:p.Pro490Arg,14/47,\N,Unknown significance,\N,missense_variant,27,0.0000151837,EXAC_NFE_AF,OTOF
429585,2:26705384:G>T,NM_194248.2:c.1469C>A,NP_919224.1:p.Pro490Gln,14/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant,28.1,0.000115848,EXAC_EAS_AF,OTOF
429586,2:26705384:G>A,NM_194248.2:c.1469C>T,NP_919224.1:p.Pro490Leu,14/47,\N,Unknown significance,\N,missense_variant,30,0.000116279,EVS_EA_AF,OTOF
429587,2:26705389:G>T,NM_194248.2:c.1464C>A,NP_919224.1:p.Phe488Leu,14/47,\N,Unknown significance,\N,missense_variant,25.3,0.000115848,EXAC_EAS_AF,OTOF
429588,2:26705396:T>G,NM_194248.2:c.1457A>C,NP_919224.1:p.Asp486Ala,14/47,\N,Unknown significance,\N,missense_variant,27,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429589,2:26705406:C>T,NM_194248.2:c.1447G>A,NP_919224.1:p.Val483Ile,14/47,\N,Likely benign,\N,missense_variant,7.769,0.003125,OTO_CO_AF,OTOF
429590,2:26705407:G>A,NM_194248.2:c.1446C>T,NP_919224.1:p.Val482=,14/47,\N,Unknown significance,\N,synonymous_variant,10.91,0.0000151865,EXAC_NFE_AF,OTOF
429591,2:26705416:A>G,NM_194248.2:c.1437T>C,NP_919224.1:p.Asn479=,14/47,\N,Unknown significance,\N,synonymous_variant,5.463,0.0000151934,EXAC_NFE_AF,OTOF
429592,2:26705427:G>A,NM_194248.2:c.1426C>T,NP_919224.1:p.Pro476Ser,14/47,\N,Unknown significance,\N,missense_variant,27.9,0.001,1KG_SAS_AF,OTOF
429593,2:26705428:C>G,NM_194248.2:c.1425G>C,NP_919224.1:p.Glu475Asp,14/47,\N,Unknown significance,\N,missense_variant,23.8,0.0000608865,EXAC_SAS_AF,OTOF
429594,2:26705428:C>T,NM_194248.2:c.1425G>A,NP_919224.1:p.Glu475=,14/47,\N,Unknown significance,\N,synonymous_variant,13.22,0.000116279,EVS_EA_AF,OTOF
429595,2:26705429:T>C,NM_194248.2:c.1424A>G,NP_919224.1:p.Glu475Gly,14/47,\N,Benign,\N,missense_variant,28.1,0.0166263,EXAC_AMR_AF,OTOF
429596,2:26705431:A>T,NM_194248.2:c.1422T>A,NP_919224.1:p.Tyr474Ter,14/47,\N,Pathogenic,Auditory neuropathy,stop_gained,35,\N,\N,OTOF
429597,2:26705436:T>A,NM_194248.2:c.1417A>T,NP_919224.1:p.Ser473Cys,14/47,\N,Unknown significance,\N,missense_variant,17.56,0.0000866101,EXAC_AMR_AF,OTOF
429598,2:26705440:C>G,NM_194248.2:c.1413G>C,NP_919224.1:p.Lys471Asn,14/47,\N,Unknown significance,\N,missense_variant,24.2,0.0000152235,EXAC_NFE_AF,OTOF
429599,2:26705440:C>T,NM_194248.2:c.1413G>A,NP_919224.1:p.Lys471=,14/47,\N,Unknown significance,\N,synonymous_variant,12.76,0.0000610054,EXAC_SAS_AF,OTOF
429600,2:26705444:T>G,NM_194248.2:c.1409A>C,NP_919224.1:p.Gln470Pro,14/47,\N,Unknown significance,\N,missense_variant,26.8,0.0000152332,EXAC_NFE_AF,OTOF
429601,2:26705465:T>G,NM_194248.2:c.1393-5A>C,\N,\N,13/46,Unknown significance,\N,splice_region_variant&intron_variant,9.795,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429602,2:26705472:G>A,NM_194248.2:c.1393-12C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,9.243,0.0014,1KG_AMR_AF,OTOF
429603,2:26705475:A>C,NM_194248.2:c.1393-15T>G,\N,\N,13/46,Benign,\N,intron_variant,7.753,0.0051,1KG_SAS_AF,OTOF
429604,2:26705475:A>G,NM_194248.2:c.1393-15T>C,\N,\N,13/46,Unknown significance,\N,intron_variant,9.218,0.0000624688,EXAC_SAS_AF,OTOF
429605,2:26705481:G>A,NM_194248.2:c.1393-21C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.918,0.0000460759,EXAC_NFE_AF,OTOF
429606,2:26705482:G>GTTCTATCTCCTCAATACACAGTGAGCACTT,NM_194248.2:c.1393-23_1393-22insAAGTGCTCACTGTGTATTGAGGAGATAGAA,\N,\N,13/46,Unknown significance,\N,intron_variant,0.149,\N,\N,OTOF
429607,2:26705489:C>T,NM_194248.2:c.1393-29G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,1.425,0.0000924756,EXAC_NFE_AF,OTOF
429608,2:26705492:GGCATGTGTGTGTGAGTGGGT>G,NM_194248.2:c.1393-52_1393-33del,\N,\N,13/46,Unknown significance,\N,intron_variant,4.693,\N,\N,OTOF
429609,2:26705495:ATG>A,NM_194248.2:c.1393-37_1393-36del,\N,\N,13/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429610,2:26705495:ATGTGTGTGTGAGTGGGTGCATGTG>A,NM_194248.2:c.1393-59_1393-36del,\N,\N,13/46,Unknown significance,\N,intron_variant,4.403,\N,\N,OTOF
429611,2:26705499:G>A,NM_194248.2:c.1393-39C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,2.49,0.0000646078,EXAC_SAS_AF,OTOF
429612,2:26705502:T>C,NM_194248.2:c.1393-42A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,2.038,0.000130429,EXAC_SAS_AF,OTOF
429613,2:26705504:T>G,NM_194248.2:c.1393-44A>C,\N,\N,13/46,Unknown significance,\N,intron_variant,3.988,0.000117592,EXAC_EAS_AF,OTOF
429614,2:26705510:G>A,NM_194248.2:c.1393-50C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.707,0.000348837,EVS_EA_AF,OTOF
429615,2:26705512:T>C,NM_194248.2:c.1393-52A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.959,0.001,1KG_SAS_AF,OTOF
429616,2:26705515:A>ATG,NM_194248.2:c.1393-57_1393-56dup,\N,\N,13/46,Unknown significance,\N,intron_variant,0.547,\N,\N,OTOF
429617,2:26705515:ATG>A,NM_194248.2:c.1393-57_1393-56del,\N,\N,13/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429618,2:26705527:G>T,NM_194248.2:c.1393-67C>A,\N,\N,13/46,Benign,\N,intron_variant,3.211,0.0586,1KG_EUR_AF,OTOF
429619,2:26705528:T>A,NM_194248.2:c.1393-68A>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.885,0.001,1KG_SAS_AF,OTOF
429620,2:26705541:G>A,NM_194248.2:c.1393-81C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.382,\N,\N,OTOF
429621,2:26705547:G>A,NM_194248.2:c.1393-87C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.091,0.001,1KG_EUR_AF,OTOF
429622,2:26705557:A>G,NM_194248.2:c.1393-97T>C,\N,\N,13/46,Unknown significance,\N,intron_variant,2.354,\N,\N,OTOF
429623,2:26705572:T>C,NM_194248.2:c.1393-112A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.978,\N,\N,OTOF
429624,2:26705572:TGAGTGG>T,NM_194248.2:c.1393-118_1393-113del,\N,\N,13/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429625,2:26705582:T>C,NM_194248.2:c.1393-122A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.995,\N,\N,OTOF
429626,2:26705589:G>A,NM_194248.2:c.1393-129C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,0.576,\N,\N,OTOF
429627,2:26705595:G>A,NM_194248.2:c.1393-135C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.596,\N,\N,OTOF
429628,2:26705595:G>T,NM_194248.2:c.1393-135C>A,\N,\N,13/46,Unknown significance,\N,intron_variant,2.051,\N,\N,OTOF
429629,2:26705608:T>C,NM_194248.2:c.1393-148A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.239,0.001,1KG_EUR_AF,OTOF
429630,2:26705612:C>T,NM_194248.2:c.1393-152G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,3.405,\N,\N,OTOF
429631,2:26705613:G>A,NM_194248.2:c.1393-153C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,0.049,0.002,1KG_EAS_AF,OTOF
429632,2:26705623:G>A,NM_194248.2:c.1393-163C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,7.101,\N,\N,OTOF
429633,2:26705625:G>A,NM_194248.2:c.1393-165C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,7.589,0.003,1KG_EUR_AF,OTOF
429634,2:26705638:T>C,NM_194248.2:c.1393-178A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,3.659,0.0015,1KG_AFR_AF,OTOF
429635,2:26705647:G>A,NM_194248.2:c.1393-187C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.15,0.0008,1KG_AFR_AF,OTOF
429636,2:26705650:C>A,NM_194248.2:c.1393-190G>T,\N,\N,13/46,Unknown significance,\N,intron_variant,6.694,0.003,1KG_AFR_AF,OTOF
429637,2:26705650:C>T,NM_194248.2:c.1393-190G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,5.977,\N,\N,OTOF
429638,2:26705650:CGTGT>C,NM_194248.2:c.1393-194_1393-191del,\N,\N,13/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429639,2:26705687:G>A,NM_194248.2:c.1393-227C>T,\N,\N,13/46,Benign,\N,intron_variant,5.671,0.056,1KG_AFR_AF,OTOF
429640,2:26705697:G>A,NM_194248.2:c.1393-237C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,6.858,0.0014,1KG_AMR_AF,OTOF
429641,2:26705700:A>T,NM_194248.2:c.1393-240T>A,\N,\N,13/46,Unknown significance,\N,intron_variant,2.643,\N,\N,OTOF
429642,2:26705737:G>A,NM_194248.2:c.1393-277C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,4.987,0.001,1KG_EAS_AF,OTOF
429643,2:26705761:G>A,NM_194248.2:c.1393-301C>T,\N,\N,13/46,Benign,\N,intron_variant,6.439,0.0938,1KG_AFR_AF,OTOF
429644,2:26705761:G>C,NM_194248.2:c.1393-301C>G,\N,\N,13/46,Unknown significance,\N,intron_variant,3.771,\N,\N,OTOF
429645,2:26705785:G>A,NM_194248.2:c.1393-325C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,6.575,\N,\N,OTOF
429646,2:26705815:G>A,NM_194248.2:c.1393-355C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,2.598,0.0008,1KG_AFR_AF,OTOF
429647,2:26705820:TG>T,NM_194248.2:c.1393-361del,\N,\N,13/46,Benign,\N,intron_variant,4.226,0.0477,1KG_AFR_AF,OTOF
429648,2:26705829:G>C,NM_194248.2:c.1393-369C>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.994,0.001,1KG_EAS_AF,OTOF
429649,2:26705848:CGT>C,NM_194248.2:c.1393-390_1393-389del,\N,\N,13/46,Benign,\N,intron_variant,5.831,0.0133,1KG_SAS_AF,OTOF
429650,2:26705860:GGTGCATGT>G,NM_194248.2:c.1393-408_1393-401del,\N,\N,13/46,Benign,\N,intron_variant,4.837,0.8899,1KG_EAS_AF,OTOF
429651,2:26705867:G>A,NM_194248.2:c.1393-407C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,4.659,\N,\N,OTOF
429652,2:26705868:T>G,NM_194248.2:c.1393-408A>C,\N,\N,13/46,Unknown significance,\N,intron_variant,3.589,\N,\N,OTOF
429653,2:26705872:C>A,NM_194248.2:c.1393-412G>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.978,\N,\N,OTOF
429654,2:26705881:A>G,NM_194248.2:c.1393-421T>C,\N,\N,13/46,Unknown significance,\N,intron_variant,0.575,\N,\N,OTOF
429655,2:26705884:G>T,NM_194248.2:c.1393-424C>A,\N,\N,13/46,Unknown significance,\N,intron_variant,1.678,\N,\N,OTOF
429656,2:26705899:G>A,NM_194248.2:c.1392+431C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.75,0.001,1KG_EAS_AF,OTOF
429657,2:26705901:G>A,NM_194248.2:c.1392+429C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.223,0.001,1KG_EUR_AF,OTOF
429658,2:26705913:G>A,NM_194248.2:c.1392+417C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.041,0.003,1KG_EAS_AF,OTOF
429659,2:26705915:G>A,NM_194248.2:c.1392+415C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.336,0.0008,1KG_AFR_AF,OTOF
429660,2:26705938:T>C,NM_194248.2:c.1392+392A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.175,\N,\N,OTOF
429661,2:26705940:CGT>C,NM_194248.2:c.1392+388_1392+389del,\N,\N,13/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429662,2:26705941:G>A,NM_194248.2:c.1392+389C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,1.144,0.0015,1KG_AFR_AF,OTOF
429663,2:26705956:CAT>C,NM_194248.2:c.1392+372_1392+373del,\N,\N,13/46,Benign,\N,intron_variant,7.461,0.0099,1KG_EUR_AF,OTOF
429664,2:26705957:ATG>A,NM_194248.2:c.1392+371_1392+372del,\N,\N,13/46,Unknown significance,\N,intron_variant,5.922,\N,\N,OTOF
429665,2:26705979:G>A,NM_194248.2:c.1392+351C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,2.766,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
429666,2:26705981:A>C,NM_194248.2:c.1392+349T>G,\N,\N,13/46,Benign,\N,intron_variant,0.613,0.0089,1KG_EAS_AF,OTOF
429667,2:26706004:C>T,NM_194248.2:c.1392+326G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,1.596,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
429668,2:26706005:G>A,NM_194248.2:c.1392+325C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.86,0.0029,1KG_AMR_AF,OTOF
429669,2:26706023:T>C,NM_194248.2:c.1392+307A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.219,0.001,1KG_EAS_AF,OTOF
429670,2:26706031:G>A,NM_194248.2:c.1392+299C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.522,\N,\N,OTOF
429671,2:26706034:CGTGT>C,NM_194248.2:c.1392+292_1392+295del,\N,\N,13/46,Unknown significance,\N,intron_variant,4.584,0.0015,1KG_AFR_AF,OTOF
429672,2:26706040:T>C,NM_194248.2:c.1392+290A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.874,\N,\N,OTOF
429673,2:26706053:G>A,NM_194248.2:c.1392+277C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,0.654,0.0014,1KG_AMR_AF,OTOF
429674,2:26706057:G>A,NM_194248.2:c.1392+273C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,2.336,\N,\N,OTOF
429675,2:26706080:T>C,NM_194248.2:c.1392+250A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.382,\N,\N,OTOF
429676,2:26706092:T>G,NM_194248.2:c.1392+238A>C,\N,\N,13/46,Unknown significance,\N,intron_variant,3.333,\N,\N,OTOF
429677,2:26706096:T>C,NM_194248.2:c.1392+234A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,3.205,0.001,1KG_EAS_AF,OTOF
429678,2:26706121:C>A,NM_194248.2:c.1392+209G>T,\N,\N,13/46,Unknown significance,\N,intron_variant,7.252,\N,\N,OTOF
429679,2:26706126:A>G,NM_194248.2:c.1392+204T>C,\N,\N,13/46,Unknown significance,\N,intron_variant,1.417,0.0008,1KG_AFR_AF,OTOF
429680,2:26706136:C>T,NM_194248.2:c.1392+194G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,6.49,0.0015,1KG_AFR_AF,OTOF
429681,2:26706154:G>A,NM_194248.2:c.1392+176C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,3.514,\N,\N,OTOF
429682,2:26706194:C>A,NM_194248.2:c.1392+136G>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.109,0.0015,1KG_AFR_AF,OTOF
429683,2:26706197:T>C,NM_194248.2:c.1392+133A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.141,0.001,1KG_SAS_AF,OTOF
429684,2:26706203:C>T,NM_194248.2:c.1392+127G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,2.29,0.0008,1KG_AFR_AF,OTOF
429685,2:26706227:G>A,NM_194248.2:c.1392+103C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,5.781,\N,\N,OTOF
429686,2:26706240:T>C,NM_194248.2:c.1392+90A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,0.092,0.001,1KG_EAS_AF,OTOF
429687,2:26706264:C>G,NM_194248.2:c.1392+66G>C,\N,\N,13/46,Unknown significance,\N,intron_variant,2.109,0.002,1KG_EAS_AF,OTOF
429688,2:26706279:T>C,NM_194248.2:c.1392+51A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.148,0.000096768,EXAC_AFR_AF,OTOF
429689,2:26706281:G>A,NM_194248.2:c.1392+49C>T,\N,\N,13/46,Unknown significance,\N,intron_variant,2.081,0.000115687,EXAC_EAS_AF,OTOF
429690,2:26706285:T>C,NM_194248.2:c.1392+45A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,3.671,0.0000151465,EXAC_NFE_AF,OTOF
429691,2:26706288:C>G,NM_194248.2:c.1392+42G>C,\N,\N,13/46,Unknown significance,\N,intron_variant,2.518,0.0000302746,EXAC_NFE_AF,OTOF
429692,2:26706288:C>T,NM_194248.2:c.1392+42G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,3.195,0.0000967305,EXAC_AFR_AF,OTOF
429693,2:26706291:T>C,NM_194248.2:c.1392+39A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,4.455,\N,\N,OTOF
429694,2:26706293:A>G,NM_194248.2:c.1392+37T>C,\N,\N,13/46,Unknown significance,\N,intron_variant,6.943,\N,\N,OTOF
429695,2:26706305:C>A,NM_194248.2:c.1392+25G>T,\N,\N,13/46,Unknown significance,\N,intron_variant,9.965,0.000151607,EXAC_FIN_AF,OTOF
429696,2:26706305:C>G,NM_194248.2:c.1392+25G>C,\N,\N,13/46,Unknown significance,\N,intron_variant,8.557,0.0000302499,EXAC_NFE_AF,OTOF
429697,2:26706310:T>C,NM_194248.2:c.1392+20A>G,\N,\N,13/46,Unknown significance,\N,intron_variant,1.904,0.000226963,EVS_AA_AF,OTOF
429698,2:26706320:A>C,NM_194248.2:c.1392+10T>G,\N,\N,13/46,Unknown significance,\N,intron_variant,4.281,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429699,2:26706321:C>T,NM_194248.2:c.1392+9G>A,\N,\N,13/46,Unknown significance,\N,intron_variant,7.139,0.00018173,EXAC_SAS_AF,OTOF
429700,2:26706326:G>A,NM_194248.2:c.1392+4C>T,\N,\N,13/46,Unknown significance,\N,splice_region_variant&intron_variant,7.185,\N,\N,OTOF
429701,2:26706329:C>A,NM_194248.2:c.1392+1G>T,\N,\N,13/46,Pathogenic,Hearing loss| non-syndromic,splice_donor_variant,28,\N,\N,OTOF
429702,2:26706334:T>C,NM_194248.2:c.1388A>G,NP_919224.1:p.Gln463Arg,13/47,\N,Benign,\N,missense_variant,27.4,0.005,OTO_TR_AF,OTOF
429703,2:26706338:C>T,NM_194248.2:c.1384G>A,NP_919224.1:p.Gly462Ser,13/47,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,OTOF
429704,2:26706350:C>G,NM_001287489.1:c.1372G>C,NP_001274418.1:p.Val458Leu,13/46,\N,Unknown significance,\N,missense_variant,32,0.0000150861,EXAC_NFE_AF,OTOF
429705,2:26706350:C>T,NM_194248.2:c.1372G>A,NP_919224.1:p.Val458Ile,13/47,\N,Unknown significance,\N,missense_variant,26.5,0.000116279,EVS_EA_AF,OTOF
429706,2:26706351:T>C,NM_194248.2:c.1371A>G,NP_919224.1:p.Gln457=,13/47,\N,Unknown significance,\N,synonymous_variant,4.924,\N,\N,OTOF
429707,2:26706356:C>T,NM_194248.2:c.1366G>A,NP_919224.1:p.Val456Met,13/47,\N,Unknown significance,\N,missense_variant,34,0.0000150848,EXAC_NFE_AF,OTOF
429708,2:26706357:G>A,NM_194248.2:c.1365C>T,NP_919224.1:p.Tyr455=,13/47,\N,Unknown significance,\N,synonymous_variant,11.75,0.001,1KG_EUR_AF,OTOF
429709,2:26706357:G>T,NM_194248.2:c.1365C>A,NP_919224.1:p.Tyr455Ter,13/47,\N,Unknown significance,\N,stop_gained,37,0.000192864,EXAC_AFR_AF,OTOF
429710,2:26706365:C>T,NM_194248.2:c.1357G>A,NP_919224.1:p.Asp453Asn,13/47,\N,Unknown significance,\N,missense_variant,27.8,0.0000301686,EXAC_NFE_AF,OTOF
429711,2:26706368:C>G,NM_194248.2:c.1354G>C,NP_919224.1:p.Val452Leu,13/47,\N,Unknown significance,\N,missense_variant,33,0.00011566,EXAC_EAS_AF,OTOF
429712,2:26706372:G>C,NM_194248.2:c.1350C>G,NP_919224.1:p.Asp450Glu,13/47,\N,Likely pathogenic,Hearing loss| non-syndromic,missense_variant,28.2,0.00011566,EXAC_EAS_AF,OTOF
429713,2:26706374:C>T,NM_194248.2:c.1348G>A,NP_919224.1:p.Asp450Asn,13/47,\N,Unknown significance,\N,missense_variant,34,0.0000150866,EXAC_NFE_AF,OTOF
429714,2:26706378:G>T,NM_194248.2:c.1344C>A,NP_919224.1:p.Asn448Lys,13/47,\N,Unknown significance,\N,missense_variant,23.1,0.001,1KG_SAS_AF,OTOF
429715,2:26706386:C>T,NM_194248.2:c.1336G>A,NP_919224.1:p.Gly446Ser,13/47,\N,Unknown significance,\N,missense_variant,33,0.000232558,EVS_EA_AF,OTOF
429716,2:26706387:G>A,NM_194248.2:c.1335C>T,NP_919224.1:p.Ile445=,13/47,\N,Unknown significance,\N,synonymous_variant,11.33,0.000121153,EXAC_SAS_AF,OTOF
429717,2:26706394:G>A,NM_001287489.1:c.1328C>T,NP_001274418.1:p.Ala443Val,13/46,\N,Unknown significance,\N,missense_variant,26.8,0.0014,1KG_AMR_AF,OTOF
429718,2:26706397:T>G,NM_001287489.1:c.1325A>C,NP_001274418.1:p.Lys442Thr,13/46,\N,Unknown significance,\N,missense_variant,25.4,0.000302572,EXAC_FIN_AF,OTOF
429719,2:26706405:A>G,NM_194248.2:c.1317T>C,NP_919224.1:p.Asn439=,13/47,\N,Benign,\N,synonymous_variant,4.378,0.0133,1KG_SAS_AF,OTOF
429720,2:26706409:G>A,NM_194248.2:c.1313C>T,NP_919224.1:p.Ala438Val,13/47,\N,Unknown significance,\N,missense_variant,33,0.001,1KG_SAS_AF,OTOF
429721,2:26706416:G>A,NM_194248.2:c.1306C>T,NP_919224.1:p.Leu436Phe,13/47,\N,Unknown significance,\N,missense_variant,28.1,0.0000302234,EXAC_NFE_AF,OTOF
429722,2:26706417:G>A,NM_194248.2:c.1305C>T,NP_919224.1:p.Ser435=,13/47,\N,Unknown significance,\N,synonymous_variant,14,0.0000151135,EXAC_NFE_AF,OTOF
429723,2:26706419:T>C,NM_194248.2:c.1303A>G,NP_919224.1:p.Ser435Gly,13/47,\N,Unknown significance,\N,missense_variant,23.4,0.000015114,EXAC_NFE_AF,OTOF
429724,2:26706424:T>A,NM_001287489.1:c.1298A>T,NP_001274418.1:p.Asn433Ile,13/46,\N,Unknown significance,\N,missense_variant,30,\N,\N,OTOF
429725,2:26706427:A>G,NM_194248.2:c.1295T>C,NP_919224.1:p.Met432Thr,13/47,\N,Unknown significance,\N,missense_variant,25.6,0.001,1KG_EUR_AF,OTOF
429726,2:26706431:G>A,NM_194248.2:c.1291C>T,NP_919224.1:p.Arg431Cys,13/47,\N,Unknown significance,\N,missense_variant,33,0.000121359,EXAC_SAS_AF,OTOF
429727,2:26706437:G>A,NM_194248.2:c.1285C>T,NP_919224.1:p.Leu429=,13/47,\N,Unknown significance,\N,synonymous_variant,9.988,0.0000151469,EXAC_NFE_AF,OTOF
429728,2:26706438:C>G,NM_194248.2:c.1284G>C,NP_919224.1:p.Gly428=,13/47,\N,Unknown significance,\N,synonymous_variant,11.04,0.0000151497,EXAC_NFE_AF,OTOF
429729,2:26706439:C>G,NM_001287489.1:c.1283G>C,NP_001274418.1:p.Gly428Ala,13/46,\N,Unknown significance,\N,missense_variant,27.7,0.001,1KG_SAS_AF,OTOF
429730,2:26706449:G>A,NM_194248.2:c.1273C>T,NP_919224.1:p.Arg425Ter,13/47,\N,Pathogenic,Deafness| autosomal recessive 9,stop_gained,38,0.000231642,EXAC_EAS_AF,OTOF
429731,2:26706458:T>G,NM_194248.2:c.1264A>C,NP_919224.1:p.Lys422Gln,13/47,\N,Unknown significance,\N,missense_variant,27.3,0.0000152036,EXAC_NFE_AF,OTOF
429732,2:26706464:A>G,NM_194248.2:c.1258T>C,NP_919224.1:p.Tyr420His,13/47,\N,Unknown significance,\N,missense_variant,15.06,0.0000152314,EXAC_NFE_AF,OTOF
429733,2:26706469:C>T,NM_194248.2:c.1253G>A,NP_919224.1:p.Arg418Gln,13/47,\N,Unknown significance,\N,missense_variant,34,0.000231965,EXAC_EAS_AF,OTOF
429734,2:26706470:G>A,NM_194248.2:c.1252C>T,NP_919224.1:p.Arg418Trp,13/47,\N,Unknown significance,\N,missense_variant,34,0.0000152774,EXAC_NFE_AF,OTOF
429735,2:26706473:C>A,NM_194248.2:c.1249G>T,NP_919224.1:p.Ala417Ser,13/47,\N,Unknown significance,\N,missense_variant,30,0.0000305941,EXAC_NFE_AF,OTOF
429736,2:26706476:A>G,NM_194248.2:c.1246T>C,NP_919224.1:p.Trp416Arg,13/47,\N,Unknown significance,\N,missense_variant,22.1,0.000116279,EVS_EA_AF,OTOF
429737,2:26706481:C>T,NM_194248.2:c.1241G>A,NP_919224.1:p.Arg414His,13/47,\N,Unknown significance,\N,missense_variant,35,\N,\N,OTOF
429738,2:26706482:G>A,NM_194248.2:c.1240C>T,NP_919224.1:p.Arg414Cys,13/47,\N,Unknown significance,\N,missense_variant,34,0.000116144,EXAC_EAS_AF,OTOF
429739,2:26706485:CG>C,NM_194248.2:c.1236del,NP_919224.1:p.Glu413AsnfsTer9,13/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,13.64,\N,\N,OTOF
429740,2:26706485:C>CG,NM_194248.2:c.1236dup,NP_919224.1:p.Glu413ArgfsTer35,13/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000995818,EXAC_AFR_AF,OTOF
429741,2:26706485:C>T,NM_194248.2:c.1237G>A,NP_919224.1:p.Glu413Lys,13/47,\N,Unknown significance,\N,missense_variant,35,0.000245519,EXAC_SAS_AF,OTOF
429742,2:26706486:G>A,NM_194248.2:c.1236C>T,NP_919224.1:p.Pro412=,13/47,\N,Unknown significance,\N,synonymous_variant,12.89,0.000116279,EVS_EA_AF,OTOF
429743,2:26706491:G>A,NM_194248.2:c.1231C>T,NP_919224.1:p.Pro411Ser,13/47,\N,Unknown significance,\N,missense_variant,28.8,0.0000155744,EXAC_NFE_AF,OTOF
429744,2:26706493:A>C,NM_194248.2:c.1229T>G,NP_919224.1:p.Val410Gly,13/47,\N,Benign,\N,missense_variant,26.7,0.02,OTO_TR_AF,OTOF
429745,2:26706494:C>G,NM_194248.2:c.1228G>C,NP_919224.1:p.Val410Leu,13/47,\N,Unknown significance,\N,missense_variant,25,0.0000156109,EXAC_NFE_AF,OTOF
429746,2:26706500:C>T,NM_194248.2:c.1222G>A,NP_919224.1:p.Glu408Lys,13/47,\N,Unknown significance,\N,missense_variant,24.3,0.000117261,EXAC_EAS_AF,OTOF
429747,2:26706501:G>A,NM_194248.2:c.1221C>T,NP_919224.1:p.Pro407=,13/47,\N,Likely benign,\N,synonymous_variant,14.23,0.00053581,EXAC_AMR_AF,OTOF
429748,2:26706503:G>A,NM_194248.2:c.1219C>T,NP_919224.1:p.Pro407Ser,13/47,\N,Unknown significance,\N,missense_variant,29.7,\N,\N,OTOF
429749,2:26706507:C>A,NM_194248.2:c.1215G>T,NP_919224.1:p.Leu405=,13/47,\N,Unknown significance,\N,synonymous_variant,17.8,0.000126167,EXAC_SAS_AF,OTOF
429750,2:26706524:C>G,NM_194248.2:c.1206-8G>C,\N,\N,12/46,Unknown significance,\N,splice_region_variant&intron_variant,3.932,0.0000171509,EXAC_NFE_AF,OTOF
429751,2:26706526:C>A,NM_194248.2:c.1206-10G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,10.43,0.0000343147,EXAC_NFE_AF,OTOF
429752,2:26706526:C>T,NM_194248.2:c.1206-10G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,9.939,0.0000171574,EXAC_NFE_AF,OTOF
429753,2:26706535:A>AG,NM_194248.2:c.1206-20dup,\N,\N,12/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429754,2:26706536:G>A,NM_194248.2:c.1206-20C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,7.648,0.0014,1KG_AMR_AF,OTOF
429755,2:26706549:C>T,NM_194248.2:c.1206-33G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,7.523,0.00183486,EXAC_FIN_AF,OTOF
429756,2:26706551:G>C,NM_194248.2:c.1206-35C>G,\N,\N,12/46,Unknown significance,\N,intron_variant,4.985,0.0000196525,EXAC_NFE_AF,OTOF
429757,2:26706554:C>A,NM_194248.2:c.1206-38G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,8.126,0.000232829,EVS_EA_AF,OTOF
429758,2:26706556:A>G,NM_194248.2:c.1206-40T>C,\N,\N,12/46,Unknown significance,\N,intron_variant,4.907,0.000212104,EXAC_SAS_AF,OTOF
429759,2:26706556:A>T,NM_194248.2:c.1206-40T>A,\N,\N,12/46,Unknown significance,\N,intron_variant,3.882,0.0000202593,EXAC_NFE_AF,OTOF
429760,2:26706560:C>A,NM_194248.2:c.1206-44G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,6.392,0.0014,1KG_AMR_AF,OTOF
429761,2:26706566:C>G,NM_194248.2:c.1206-50G>C,\N,\N,12/46,Unknown significance,\N,intron_variant,5.761,0.0000726956,EXAC_SAS_AF,OTOF
429762,2:26706588:C>T,NM_194248.2:c.1206-72G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,3.448,\N,\N,OTOF
429763,2:26706613:A>G,NM_194248.2:c.1206-97T>C,\N,\N,12/46,Benign,\N,intron_variant,3.357,0.0076,1KG_AFR_AF,OTOF
429764,2:26706623:G>A,NM_194248.2:c.1206-107C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.939,0.0023,1KG_AFR_AF,OTOF
429765,2:26706625:G>A,NM_194248.2:c.1206-109C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,3.703,\N,\N,OTOF
429766,2:26706642:T>C,NM_194248.2:c.1206-126A>G,\N,\N,12/46,Benign,\N,intron_variant,1.011,0.9127,1KG_EAS_AF,OTOF
429767,2:26706644:G>A,NM_194248.2:c.1206-128C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.166,0.001,1KG_EAS_AF,OTOF
429768,2:26706658:C>T,NM_194248.2:c.1206-142G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,3.383,0.001,1KG_EUR_AF,OTOF
429769,2:26706713:G>C,NM_194248.2:c.1206-197C>G,\N,\N,12/46,Unknown significance,\N,intron_variant,1.297,0.001,1KG_EAS_AF,OTOF
429770,2:26706732:G>A,NM_194248.2:c.1206-216C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.355,0.0043,1KG_AMR_AF,OTOF
429771,2:26706746:C>T,NM_194248.2:c.1206-230G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,5.573,\N,\N,OTOF
429772,2:26706761:A>G,NM_194248.2:c.1206-245T>C,\N,\N,12/46,Unknown significance,\N,intron_variant,1.252,0.001,1KG_SAS_AF,OTOF
429773,2:26706766:C>T,NM_194248.2:c.1206-250G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,0.048,0.001,1KG_EUR_AF,OTOF
429774,2:26706767:G>A,NM_194248.2:c.1206-251C>T,\N,\N,12/46,Benign,\N,intron_variant,3.203,0.0153,1KG_SAS_AF,OTOF
429775,2:26706774:G>T,NM_194248.2:c.1206-258C>A,\N,\N,12/46,Unknown significance,\N,intron_variant,0.871,\N,\N,OTOF
429776,2:26706777:C>T,NM_194248.2:c.1206-261G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,5.8,\N,\N,OTOF
429777,2:26706789:T>C,NM_194248.2:c.1206-273A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,2.072,0.003,1KG_EAS_AF,OTOF
429778,2:26706790:G>A,NM_194248.2:c.1206-274C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,3.824,0.001,1KG_EAS_AF,OTOF
429779,2:26706798:T>C,NM_194248.2:c.1206-282A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,1.608,\N,\N,OTOF
429780,2:26706825:T>C,NM_194248.2:c.1206-309A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,2.714,\N,\N,OTOF
429781,2:26706829:AT>A,NM_194248.2:c.1206-314del,\N,\N,12/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429782,2:26706831:T>C,NM_194248.2:c.1206-315A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,1.671,\N,\N,OTOF
429783,2:26706844:T>C,NM_194248.2:c.1206-328A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,0.66,\N,\N,OTOF
429784,2:26706852:T>C,NM_194248.2:c.1206-336A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,0.183,0.0029,1KG_AMR_AF,OTOF
429785,2:26706858:C>T,NM_194248.2:c.1206-342G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,4.89,0.0014,1KG_AMR_AF,OTOF
429786,2:26706872:C>T,NM_194248.2:c.1206-356G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,6.152,\N,\N,OTOF
429787,2:26706873:G>A,NM_194248.2:c.1206-357C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,1.164,0.003,1KG_EAS_AF,OTOF
429788,2:26706891:G>T,NM_194248.2:c.1206-375C>A,\N,\N,12/46,Benign,\N,intron_variant,1.406,0.0072,1KG_AMR_AF,OTOF
429789,2:26706931:C>T,NM_194248.2:c.1205+411G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,4.612,\N,\N,OTOF
429790,2:26706933:T>C,NM_194248.2:c.1205+409A>G,\N,\N,12/46,Benign,\N,intron_variant,0.839,0.0106,1KG_AFR_AF,OTOF
429791,2:26706985:C>T,NM_194248.2:c.1205+357G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,12.19,0.004,1KG_EAS_AF,OTOF
429792,2:26707018:A>C,NM_194248.2:c.1205+324T>G,\N,\N,12/46,Unknown significance,\N,intron_variant,6.969,\N,\N,OTOF
429793,2:26707054:G>T,NM_194248.2:c.1205+288C>A,\N,\N,12/46,Unknown significance,\N,intron_variant,1.383,0.001,1KG_SAS_AF,OTOF
429794,2:26707061:T>C,NM_194248.2:c.1205+281A>G,\N,\N,12/46,Unknown significance,\N,intron_variant,1.804,0.001,1KG_SAS_AF,OTOF
429795,2:26707070:C>A,NM_194248.2:c.1205+272G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,5.057,0.0029,1KG_AMR_AF,OTOF
429796,2:26707071:C>G,NM_194248.2:c.1205+271G>C,\N,\N,12/46,Unknown significance,\N,intron_variant,3.081,\N,\N,OTOF
429797,2:26707133:A>G,NM_194248.2:c.1205+209T>C,\N,\N,12/46,Benign,\N,intron_variant,4.603,0.292,1KG_AFR_AF,OTOF
429798,2:26707150:T>C,NM_194248.2:c.1205+192A>G,\N,\N,12/46,Benign,\N,intron_variant,1.192,0.0567,1KG_EUR_AF,OTOF
429799,2:26707152:A>T,NM_194248.2:c.1205+190T>A,\N,\N,12/46,Benign,\N,intron_variant,1.098,0.0051,1KG_SAS_AF,OTOF
429800,2:26707175:C>A,NM_194248.2:c.1205+167G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,7.559,\N,\N,OTOF
429801,2:26707197:G>A,NM_194248.2:c.1205+145C>T,\N,\N,12/46,Benign,\N,intron_variant,2.473,0.0586,1KG_EUR_AF,OTOF
429802,2:26707223:G>A,NM_194248.2:c.1205+119C>T,\N,\N,12/46,Benign,\N,intron_variant,3.632,0.0061,1KG_SAS_AF,OTOF
429803,2:26707226:C>T,NM_194248.2:c.1205+116G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,2.811,0.001,1KG_EAS_AF,OTOF
429804,2:26707246:C>T,NM_194248.2:c.1205+96G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,4.365,0.0031,1KG_SAS_AF,OTOF
429805,2:26707247:G>C,NM_194248.2:c.1205+95C>G,\N,\N,12/46,Unknown significance,\N,intron_variant,1.687,\N,\N,OTOF
429806,2:26707258:G>A,NM_194248.2:c.1205+84C>T,\N,\N,12/46,Benign,\N,intron_variant,0.989,0.0386,1KG_AFR_AF,OTOF
429807,2:26707277:C>T,NM_194248.2:c.1205+65G>A,\N,\N,12/46,Unknown significance,\N,intron_variant,4.076,0.0008,1KG_AFR_AF,OTOF
429808,2:26707278:G>A,NM_194248.2:c.1205+64C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,2.554,\N,\N,OTOF
429809,2:26707292:G>C,NM_194248.2:c.1205+50C>G,\N,\N,12/46,Unknown significance,\N,intron_variant,2.703,0.0000156499,EXAC_NFE_AF,OTOF
429810,2:26707297:G>A,NM_194248.2:c.1205+45C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,6.414,0.0000156221,EXAC_NFE_AF,OTOF
429811,2:26707297:G>C,NM_194248.2:c.1205+45C>G,\N,\N,12/46,Unknown significance,\N,intron_variant,2.499,0.0000156221,EXAC_NFE_AF,OTOF
429812,2:26707305:G>A,NM_194248.2:c.1205+37C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.212,0.000249345,EXAC_NFE_AF,OTOF
429813,2:26707307:C>A,NM_194248.2:c.1205+35G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.759,0.000116279,EVS_EA_AF,OTOF
429814,2:26707307:C>G,NM_194248.2:c.1205+35G>C,\N,\N,12/46,Unknown significance,\N,intron_variant,3.702,0.000101071,EXAC_AFR_AF,OTOF
429815,2:26707321:G>T,NM_194248.2:c.1205+21C>A,\N,\N,12/46,Unknown significance,\N,intron_variant,7.144,0.0000154943,EXAC_NFE_AF,OTOF
429816,2:26707327:G>A,NM_194248.2:c.1205+15C>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.033,\N,\N,OTOF
429817,2:26707328:T>G,NM_194248.2:c.1205+14A>C,\N,\N,12/46,Benign,\N,intron_variant,7.985,0.08,OTO_TR_AF,OTOF
429818,2:26707331:C>A,NM_194248.2:c.1205+11G>T,\N,\N,12/46,Unknown significance,\N,intron_variant,4.601,0.0000154254,EXAC_NFE_AF,OTOF
429819,2:26707334:G>A,NM_194248.2:c.1205+8C>T,\N,\N,12/46,Unknown significance,\N,splice_region_variant&intron_variant,0.308,0.0000994036,EXAC_AFR_AF,OTOF
429820,2:26707335:G>C,NM_194248.2:c.1205+7C>G,\N,\N,12/46,Unknown significance,\N,splice_region_variant&intron_variant,3.14,0.0000614553,EXAC_SAS_AF,OTOF
429821,2:26707339:C>T,NM_194248.2:c.1205+3G>A,\N,\N,12/46,Likely benign,\N,splice_region_variant&intron_variant,6.724,\N,\N,OTOF
429822,2:26707340:A>C,NM_194248.2:c.1205+2T>G,\N,\N,12/46,Unknown significance,\N,splice_donor_variant,22.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429823,2:26707346:C>A,NM_194248.2:c.1201G>T,NP_919224.1:p.Glu401Ter,12/47,\N,Unknown significance,\N,stop_gained,37,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429824,2:26707348:A>G,NM_001287489.1:c.1199T>C,NP_001274418.1:p.Ile400Thr,12/46,\N,Unknown significance,\N,missense_variant,25.6,0.000116279,EVS_EA_AF,OTOF
429825,2:26707349:T>C,NM_194248.2:c.1198A>G,NP_919224.1:p.Ile400Val,12/47,\N,Unknown significance,\N,missense_variant,19.33,0.000453926,EVS_AA_AF,OTOF
429826,2:26707353:A>T,NM_001287489.1:c.1194T>A,NP_001274418.1:p.Asp398Glu,12/46,\N,Unknown significance,\N,missense_variant,11.72,0.004,1KG_EAS_AF,OTOF
429827,2:26707359:G>A,NM_194248.2:c.1188C>T,NP_919224.1:p.Asp396=,12/47,\N,Unknown significance,\N,synonymous_variant,2.777,0.0000982318,EXAC_AFR_AF,OTOF
429828,2:26707361:C>T,NM_001287489.1:c.1186G>A,NP_001274418.1:p.Asp396Asn,12/46,\N,Unknown significance,\N,missense_variant,32,0.0000980969,EXAC_AFR_AF,OTOF
429829,2:26707362:G>A,NM_194248.2:c.1185C>T,NP_919224.1:p.Thr395=,12/47,\N,Benign,\N,synonymous_variant,11.15,0.0219,1KG_AFR_AF,OTOF
429830,2:26707362:G>T,NM_194248.2:c.1185C>A,NP_919224.1:p.Thr395=,12/47,\N,Unknown significance,\N,synonymous_variant,8.611,0.00237892,EXAC_SAS_AF,OTOF
429831,2:26707366:T>TC,NM_194248.2:c.1180dup,NP_919224.1:p.Glu394GlyfsTer6,12/47,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,34,\N,\N,OTOF
429832,2:26707366:T>G,NM_194248.2:c.1181A>C,NP_919224.1:p.Glu394Ala,12/47,\N,Unknown significance,\N,missense_variant,27.2,\N,\N,OTOF
429833,2:26707374:CT>C,NM_194248.2:c.1172del,NP_919224.1:p.Lys391ArgfsTer31,12/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,frameshift_variant,34,0.0000976944,EXAC_AFR_AF,OTOF
429834,2:26707375:T>C,NM_194248.2:c.1172A>G,NP_919224.1:p.Lys391Arg,12/47,\N,Unknown significance,\N,missense_variant,24.4,0.0000152388,EXAC_NFE_AF,OTOF
429835,2:26707384:G>A,NM_194248.2:c.1163C>T,NP_919224.1:p.Thr388Met,12/47,\N,Unknown significance,\N,missense_variant,25.4,0.000195046,EXAC_AFR_AF,OTOF
429836,2:26707390:A>G,NM_194248.2:c.1157T>C,NP_919224.1:p.Ile386Thr,12/47,\N,Unknown significance,\N,missense_variant,25.9,0.000116279,EVS_EA_AF,OTOF
429837,2:26707394:T>C,NM_194248.2:c.1153A>G,NP_919224.1:p.Asn385Asp,12/47,\N,Unknown significance,\N,missense_variant,25.7,0.00012164,EXAC_SAS_AF,OTOF
429838,2:26707397:C>T,NM_194248.2:c.1150G>A,NP_919224.1:p.Asp384Asn,12/47,\N,Unknown significance,\N,missense_variant,34,0.0000870625,EXAC_AMR_AF,OTOF
429839,2:26707398:C>G,NM_194248.2:c.1149G>C,NP_919224.1:p.Gly383=,12/47,\N,Unknown significance,\N,synonymous_variant,14.44,0.000348837,EVS_EA_AF,OTOF
429840,2:26707398:C>T,NM_194248.2:c.1149G>A,NP_919224.1:p.Gly383=,12/47,\N,Unknown significance,\N,synonymous_variant,17.19,0.0000152184,EXAC_NFE_AF,OTOF
429841,2:26707412:C>T,NM_194248.2:c.1135G>A,NP_919224.1:p.Val379Met,12/47,\N,Unknown significance,\N,missense_variant,34,0.00158874,EVS_AA_AF,OTOF
429842,2:26707413:G>A,NM_194248.2:c.1134C>T,NP_919224.1:p.Ala378=,12/47,\N,Unknown significance,\N,synonymous_variant,17.44,0.001,1KG_SAS_AF,OTOF
429843,2:26707418:C>T,NM_194248.2:c.1129G>A,NP_919224.1:p.Val377Ile,12/47,\N,Likely benign,\N,missense_variant,13.1,0.0000607829,EXAC_SAS_AF,OTOF
429844,2:26707419:G>A,NM_194248.2:c.1128C>T,NP_919224.1:p.Asp376=,12/47,\N,Unknown significance,\N,synonymous_variant,13.88,0.0000152082,EXAC_NFE_AF,OTOF
429845,2:26707421:C>T,NM_194248.2:c.1126G>A,NP_919224.1:p.Asp376Asn,12/47,\N,Unknown significance,\N,missense_variant,25.7,0.0000152068,EXAC_NFE_AF,OTOF
429846,2:26707430:C>T,NM_194248.2:c.1117G>A,NP_919224.1:p.Val373Met,12/47,\N,Unknown significance,\N,missense_variant,32,0.0008,1KG_AFR_AF,OTOF
429847,2:26707431:G>A,NM_194248.2:c.1116C>T,NP_919224.1:p.Tyr372=,12/47,\N,Likely benign,\N,synonymous_variant,11.71,0.00181571,EVS_AA_AF,OTOF
429848,2:26707433:A>G,NM_194248.2:c.1114T>C,NP_919224.1:p.Tyr372His,12/47,\N,Unknown significance,\N,missense_variant,26.5,0.000115848,EXAC_EAS_AF,OTOF
429849,2:26707442:G>T,NM_194248.2:c.1105C>A,NP_919224.1:p.Leu369Met,12/47,\N,Unknown significance,\N,missense_variant,23.6,0.000226963,EVS_AA_AF,OTOF
429850,2:26707443:CC>G,NM_194248.2:c.1103_1104delinsC,NP_919224.1:p.Gly368AlafsTer2,12/47,\N,Pathogenic,Deafness| autosomal recessive 9,frameshift_variant,\N,\N,\N,OTOF
429851,2:26707445:C>T,NM_194248.2:c.1102G>A,NP_919224.1:p.Gly368Arg,12/47,\N,Pathogenic,Auditory neuropathy spectrum disorder,missense_variant,33,\N,\N,OTOF
429852,2:26707446:C>T,NM_194248.2:c.1101G>A,NP_919224.1:p.Ser367=,12/47,\N,Unknown significance,\N,synonymous_variant,19.38,0.0000608199,EXAC_SAS_AF,OTOF
429853,2:26707447:G>A,NM_194248.2:c.1100C>T,NP_919224.1:p.Ser367Leu,12/47,\N,Unknown significance,\N,missense_variant,25,0.0008,1KG_AFR_AF,OTOF
429854,2:26707460:C>T,NM_194248.2:c.1087G>A,NP_919224.1:p.Asp363Asn,12/47,\N,Unknown significance,\N,missense_variant,26.8,0.000434707,EXAC_AMR_AF,OTOF
429855,2:26707461:G>A,NM_194248.2:c.1086C>T,NP_919224.1:p.Pro362=,12/47,\N,Unknown significance,\N,synonymous_variant,12.6,0.0000608569,EXAC_SAS_AF,OTOF
429856,2:26707463:G>C,NM_194248.2:c.1084C>G,NP_919224.1:p.Pro362Ala,12/47,\N,Unknown significance,\N,missense_variant,25.2,0.0000152059,EXAC_NFE_AF,OTOF
429857,2:26707476:G>T,NM_194248.2:c.1071C>A,NP_919224.1:p.Ala357=,12/47,\N,Unknown significance,\N,synonymous_variant,9.594,0.000195656,EXAC_AFR_AF,OTOF
429858,2:26707483:T>C,NM_194248.2:c.1064A>G,NP_919224.1:p.Lys355Arg,12/47,\N,Unknown significance,\N,missense_variant,19.91,0.000309502,EXAC_FIN_AF,OTOF
429859,2:26707508:T>C,NM_194248.2:c.1046-7A>G,\N,\N,11/46,Unknown significance,\N,splice_region_variant&intron_variant,0.73,0.000116144,EXAC_EAS_AF,OTOF
429860,2:26707517:G>C,NM_194248.2:c.1046-16C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.667,0.0000153879,EXAC_NFE_AF,OTOF
429861,2:26707518:T>G,NM_194248.2:c.1046-17A>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.009,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
429862,2:26707519:G>A,NM_194248.2:c.1046-18C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.538,0.001,1KG_SAS_AF,OTOF
429863,2:26707522:C>T,NM_194248.2:c.1046-21G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,4.014,0.0000308214,EXAC_NFE_AF,OTOF
429864,2:26707535:A>C,NM_194248.2:c.1046-34T>G,\N,\N,11/46,Benign,\N,intron_variant,0.059,0.005,OTO_TR_AF,OTOF
429865,2:26707536:C>A,NM_194248.2:c.1046-35G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,5.189,0.001,1KG_EAS_AF,OTOF
429866,2:26707542:C>T,NM_194248.2:c.1046-41G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,5.686,0.0008,1KG_AFR_AF,OTOF
429867,2:26707547:A>T,NM_194248.2:c.1046-46T>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.461,0.000116279,EVS_EA_AF,OTOF
429868,2:26707549:C>T,NM_194248.2:c.1046-48G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.366,0.0015,1KG_AFR_AF,OTOF
429869,2:26707550:G>A,NM_194248.2:c.1046-49C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.173,0.000655738,EXAC_FIN_AF,OTOF
429870,2:26707550:G>T,NM_194248.2:c.1046-49C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.053,0.002,1KG_SAS_AF,OTOF
429871,2:26707568:C>T,NM_194248.2:c.1046-67G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.057,\N,\N,OTOF
429872,2:26707593:T>A,NM_194248.2:c.1046-92A>T,\N,\N,11/46,Benign,\N,intron_variant,6.004,0.0787,1KG_AFR_AF,OTOF
429873,2:26707603:G>A,NM_194248.2:c.1046-102C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,5.778,\N,\N,OTOF
429874,2:26707656:G>C,NM_194248.2:c.1046-155C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.751,\N,\N,OTOF
429875,2:26707705:C>G,NM_194248.2:c.1046-204G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,4.013,\N,\N,OTOF
429876,2:26707707:G>A,NM_194248.2:c.1046-206C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.914,0.002,1KG_SAS_AF,OTOF
429877,2:26707722:T>A,NM_194248.2:c.1046-221A>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.667,\N,\N,OTOF
429878,2:26707749:C>T,NM_194248.2:c.1046-248G>A,\N,\N,11/46,Benign,\N,intron_variant,2.292,0.0984,1KG_EUR_AF,OTOF
429879,2:26707752:C>G,NM_194248.2:c.1046-251G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,2.996,0.001,1KG_EAS_AF,OTOF
429880,2:26707853:G>C,NM_194248.2:c.1046-352C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,3.369,\N,\N,OTOF
429881,2:26707874:A>C,NM_194248.2:c.1046-373T>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.978,\N,\N,OTOF
429882,2:26707907:G>A,NM_194248.2:c.1046-406C>T,\N,\N,11/46,Benign,\N,intron_variant,4.992,0.0204,1KG_SAS_AF,OTOF
429883,2:26707947:G>A,NM_194248.2:c.1046-446C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.703,\N,\N,OTOF
429884,2:26707952:C>A,NM_194248.2:c.1046-451G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.546,\N,\N,OTOF
429885,2:26708013:G>C,NM_194248.2:c.1046-512C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.171,\N,\N,OTOF
429886,2:26708028:C>T,NM_194248.2:c.1046-527G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.347,0.0008,1KG_AFR_AF,OTOF
429887,2:26708057:G>A,NM_194248.2:c.1046-556C>T,\N,\N,11/46,Benign,\N,intron_variant,2.742,0.0328,1KG_EUR_AF,OTOF
429888,2:26708082:C>G,NM_194248.2:c.1046-581G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,5.115,\N,\N,OTOF
429889,2:26708138:A>G,NM_194248.2:c.1046-637T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,1.331,\N,\N,OTOF
429890,2:26708148:T>G,NM_194248.2:c.1046-647A>C,\N,\N,11/46,Unknown significance,\N,intron_variant,9.468,0.001,1KG_EAS_AF,OTOF
429891,2:26708156:A>T,NM_194248.2:c.1046-655T>A,\N,\N,11/46,Unknown significance,\N,intron_variant,8.255,\N,\N,OTOF
429892,2:26708175:T>A,NM_194248.2:c.1046-674A>T,\N,\N,11/46,Unknown significance,\N,intron_variant,10.29,0.001,1KG_SAS_AF,OTOF
429893,2:26708204:G>A,NM_194248.2:c.1046-703C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.511,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
429894,2:26708218:TG>T,NM_194248.2:c.1046-718del,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429895,2:26708247:C>T,NM_194248.2:c.1046-746G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.422,\N,\N,OTOF
429896,2:26708270:C>T,NM_194248.2:c.1046-769G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,6.033,\N,\N,OTOF
429897,2:26708279:T>C,NM_194248.2:c.1046-778A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.659,\N,\N,OTOF
429898,2:26708282:G>T,NM_194248.2:c.1046-781C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.561,0.0014,1KG_AMR_AF,OTOF
429899,2:26708284:G>A,NM_194248.2:c.1046-783C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.476,\N,\N,OTOF
429900,2:26708302:T>C,NM_194248.2:c.1046-801A>G,\N,\N,11/46,Benign,\N,intron_variant,8.364,0.0174,1KG_SAS_AF,OTOF
429901,2:26708326:C>T,NM_194248.2:c.1046-825G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,11.28,\N,\N,OTOF
429902,2:26708384:C>T,NM_194248.2:c.1046-883G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,9.717,\N,\N,OTOF
429903,2:26708404:G>C,NM_194248.2:c.1046-903C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.697,\N,\N,OTOF
429904,2:26708465:C>T,NM_194248.2:c.1046-964G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.947,0.001,1KG_EUR_AF,OTOF
429905,2:26708466:G>A,NM_194248.2:c.1046-965C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.35,\N,\N,OTOF
429906,2:26708486:T>C,NM_194248.2:c.1046-985A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.492,\N,\N,OTOF
429907,2:26708495:C>T,NM_194248.2:c.1046-994G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.38,0.002,1KG_EAS_AF,OTOF
429908,2:26708499:A>T,NM_194248.2:c.1046-998T>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.008,\N,\N,OTOF
429909,2:26708520:C>T,NM_194248.2:c.1046-1019G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,3.337,0.001,1KG_EAS_AF,OTOF
429910,2:26708525:G>A,NM_194248.2:c.1046-1024C>T,\N,\N,11/46,Benign,\N,intron_variant,4.095,0.0106,1KG_AFR_AF,OTOF
429911,2:26708572:G>A,NM_194248.2:c.1046-1071C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.083,0.001,1KG_EAS_AF,OTOF
429912,2:26708586:T>C,NM_194248.2:c.1046-1085A>G,\N,\N,11/46,Benign,\N,intron_variant,0.288,0.9117,1KG_EAS_AF,OTOF
429913,2:26708587:G>A,NM_194248.2:c.1046-1086C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.336,0.001,1KG_EAS_AF,OTOF
429914,2:26708604:C>T,NM_194248.2:c.1046-1103G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,6.176,\N,\N,OTOF
429915,2:26708640:C>T,NM_194248.2:c.1046-1139G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.654,\N,\N,OTOF
429916,2:26708651:CT>C,NM_194248.2:c.1046-1151del,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429917,2:26708659:G>A,NM_194248.2:c.1046-1158C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.956,0.001,1KG_EAS_AF,OTOF
429918,2:26708666:C>T,NM_194248.2:c.1046-1165G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,5.325,0.0041,1KG_SAS_AF,OTOF
429919,2:26708703:A>T,NM_194248.2:c.1046-1202T>A,\N,\N,11/46,Unknown significance,\N,intron_variant,9.14,0.0008,1KG_AFR_AF,OTOF
429920,2:26708748:C>T,NM_194248.2:c.1046-1247G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.86,0.002,1KG_SAS_AF,OTOF
429921,2:26708749:G>A,NM_194248.2:c.1046-1248C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.064,0.001,1KG_EUR_AF,OTOF
429922,2:26708760:G>A,NM_194248.2:c.1046-1259C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.111,0.001,1KG_EUR_AF,OTOF
429923,2:26708802:G>A,NM_194248.2:c.1046-1301C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.257,0.0014,1KG_AMR_AF,OTOF
429924,2:26708804:G>A,NM_194248.2:c.1046-1303C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.068,\N,\N,OTOF
429925,2:26708806:C>T,NM_194248.2:c.1046-1305G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.97,\N,\N,OTOF
429926,2:26708808:T>C,NM_194248.2:c.1046-1307A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.177,0.003,1KG_EAS_AF,OTOF
429927,2:26708834:G>A,NM_194248.2:c.1046-1333C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.96,0.0008,1KG_AFR_AF,OTOF
429928,2:26708851:G>A,NM_194248.2:c.1046-1350C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.455,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
429929,2:26708857:C>A,NM_194248.2:c.1046-1356G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.689,\N,\N,OTOF
429930,2:26708857:C>T,NM_194248.2:c.1046-1356G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.689,0.001,1KG_EUR_AF,OTOF
429931,2:26708895:C>T,NM_194248.2:c.1046-1394G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.19,\N,\N,OTOF
429932,2:26708929:T>C,NM_194248.2:c.1046-1428A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.343,0.0029,1KG_AMR_AF,OTOF
429933,2:26708933:C>T,NM_194248.2:c.1046-1432G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.661,0.0008,1KG_AFR_AF,OTOF
429934,2:26708934:G>A,NM_194248.2:c.1046-1433C>T,\N,\N,11/46,Benign,\N,intron_variant,2.283,0.5883,1KG_EAS_AF,OTOF
429935,2:26708949:G>A,NM_194248.2:c.1046-1448C>T,\N,\N,11/46,Benign,\N,intron_variant,0.485,0.0298,1KG_EAS_AF,OTOF
429936,2:26708952:C>T,NM_194248.2:c.1046-1451G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.122,\N,\N,OTOF
429937,2:26708957:G>A,NM_194248.2:c.1046-1456C>T,\N,\N,11/46,Benign,\N,intron_variant,4.008,0.0586,1KG_EUR_AF,OTOF
429938,2:26708983:G>A,NM_194248.2:c.1046-1482C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.501,\N,\N,OTOF
429939,2:26709009:G>A,NM_194248.2:c.1046-1508C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.347,0.001,1KG_EUR_AF,OTOF
429940,2:26709042:A>C,NM_194248.2:c.1046-1541T>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.616,\N,\N,OTOF
429941,2:26709129:G>C,NM_194248.2:c.1046-1628C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.091,0.001,1KG_SAS_AF,OTOF
429942,2:26709212:G>A,NM_194248.2:c.1046-1711C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.676,0.0014,1KG_AMR_AF,OTOF
429943,2:26709238:G>A,NM_194248.2:c.1046-1737C>T,\N,\N,11/46,Benign,\N,intron_variant,0.374,0.9097,1KG_EAS_AF,OTOF
429944,2:26709251:T>C,NM_194248.2:c.1046-1750A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.024,0.0014,1KG_AMR_AF,OTOF
429945,2:26709283:CAGGT>C,NM_194248.2:c.1046-1786_1046-1783del,\N,\N,11/46,Benign,\N,intron_variant,9.738,0.0427,1KG_EUR_AF,OTOF
429946,2:26709328:G>GC,NM_194248.2:c.1046-1828_1046-1827insG,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429947,2:26709349:G>A,NM_194248.2:c.1046-1848C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.907,\N,\N,OTOF
429948,2:26709371:T>C,NM_194248.2:c.1046-1870A>G,\N,\N,11/46,Benign,\N,intron_variant,1.439,0.0378,1KG_AFR_AF,OTOF
429949,2:26709400:C>T,NM_194248.2:c.1046-1899G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.489,0.002,1KG_SAS_AF,OTOF
429950,2:26709437:A>G,NM_194248.2:c.1046-1936T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,4.766,0.001,1KG_EUR_AF,OTOF
429951,2:26709471:G>A,NM_194248.2:c.1046-1970C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.552,0.003,1KG_EAS_AF,OTOF
429952,2:26709496:G>A,NM_194248.2:c.1046-1995C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,7.987,\N,\N,OTOF
429953,2:26709497:G>T,NM_194248.2:c.1046-1996C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,4.252,0.002,1KG_SAS_AF,OTOF
429954,2:26709533:T>C,NM_194248.2:c.1046-2032A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.167,\N,\N,OTOF
429955,2:26709624:C>T,NM_194248.2:c.1046-2123G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.137,\N,\N,OTOF
429956,2:26709635:C>T,NM_194248.2:c.1046-2134G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,3.21,\N,\N,OTOF
429957,2:26709660:C>T,NM_194248.2:c.1046-2159G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.774,0.0015,1KG_AFR_AF,OTOF
429958,2:26709733:C>A,NM_194248.2:c.1046-2232G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.062,0.0008,1KG_AFR_AF,OTOF
429959,2:26709743:A>G,NM_194248.2:c.1046-2242T>C,\N,\N,11/46,Benign,\N,intron_variant,3.271,0.0537,1KG_AFR_AF,OTOF
429960,2:26709825:C>T,NM_194248.2:c.1045+2254G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.226,0.0008,1KG_AFR_AF,OTOF
429961,2:26709858:C>T,NM_194248.2:c.1045+2221G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.039,0.0014,1KG_AMR_AF,OTOF
429962,2:26709889:G>A,NM_194248.2:c.1045+2190C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.183,0.0008,1KG_AFR_AF,OTOF
429963,2:26709893:A>G,NM_194248.2:c.1045+2186T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,1,\N,\N,OTOF
429964,2:26709900:G>A,NM_194248.2:c.1045+2179C>T,\N,\N,11/46,Benign,\N,intron_variant,0.13,0.0051,1KG_SAS_AF,OTOF
429965,2:26709908:C>T,NM_194248.2:c.1045+2171G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.809,\N,\N,OTOF
429966,2:26709923:G>A,NM_194248.2:c.1045+2156C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.857,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
429967,2:26709930:G>A,NM_194248.2:c.1045+2149C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.392,0.002,1KG_SAS_AF,OTOF
429968,2:26709959:G>A,NM_194248.2:c.1045+2120C>T,\N,\N,11/46,Benign,\N,intron_variant,1.879,0.0051,1KG_SAS_AF,OTOF
429969,2:26709995:A>G,NM_194248.2:c.1045+2084T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.445,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
429970,2:26709997:G>A,NM_194248.2:c.1045+2082C>T,\N,\N,11/46,Benign,\N,intron_variant,1.117,0.0051,1KG_SAS_AF,OTOF
429971,2:26709998:A>AG,NM_194248.2:c.1045+2080dup,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429972,2:26710000:G>T,NM_194248.2:c.1045+2079C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.053,0.002,1KG_EUR_AF,OTOF
429973,2:26710008:G>A,NM_194248.2:c.1045+2071C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.934,0.0041,1KG_SAS_AF,OTOF
429974,2:26710038:G>A,NM_194248.2:c.1045+2041C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.891,0.0014,1KG_AMR_AF,OTOF
429975,2:26710043:C>A,NM_194248.2:c.1045+2036G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,7.515,0.0023,1KG_AFR_AF,OTOF
429976,2:26710060:C>A,NM_194248.2:c.1045+2019G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,17.19,0.0014,1KG_AMR_AF,OTOF
429977,2:26710109:T>TG,NM_194248.2:c.1045+1969dup,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
429978,2:26710118:C>T,NM_194248.2:c.1045+1961G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.585,\N,\N,OTOF
429979,2:26710167:T>C,NM_194248.2:c.1045+1912A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.267,0.0043,1KG_AMR_AF,OTOF
429980,2:26710227:G>C,NM_194248.2:c.1045+1852C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.178,\N,\N,OTOF
429981,2:26710232:A>G,NM_194248.2:c.1045+1847T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,2.082,\N,\N,OTOF
429982,2:26710237:T>C,NM_194248.2:c.1045+1842A>G,\N,\N,11/46,Benign,\N,intron_variant,1.032,0.2458,1KG_AFR_AF,OTOF
429983,2:26710248:G>A,NM_194248.2:c.1045+1831C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.839,\N,\N,OTOF
429984,2:26710263:G>A,NM_194248.2:c.1045+1816C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.776,\N,\N,OTOF
429985,2:26710265:G>T,NM_194248.2:c.1045+1814C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.118,\N,\N,OTOF
429986,2:26710279:G>A,NM_194248.2:c.1045+1800C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.026,0.001,1KG_SAS_AF,OTOF
429987,2:26710288:T>C,NM_194248.2:c.1045+1791A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.442,0.0015,1KG_AFR_AF,OTOF
429988,2:26710298:T>C,NM_194248.2:c.1045+1781A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,2.548,0.001,1KG_SAS_AF,OTOF
429989,2:26710301:T>A,NM_194248.2:c.1045+1778A>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.951,\N,\N,OTOF
429990,2:26710340:T>C,NM_194248.2:c.1045+1739A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.138,\N,\N,OTOF
429991,2:26710365:T>C,NM_194248.2:c.1045+1714A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.509,\N,\N,OTOF
429992,2:26710395:A>G,NM_194248.2:c.1045+1684T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.471,\N,\N,OTOF
429993,2:26710421:G>T,NM_194248.2:c.1045+1658C>A,\N,\N,11/46,Benign,\N,intron_variant,4.209,0.9077,1KG_EAS_AF,OTOF
429994,2:26710422:G>A,NM_194248.2:c.1045+1657C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,5.821,\N,\N,OTOF
429995,2:26710524:A>C,NM_194248.2:c.1045+1555T>G,\N,\N,11/46,Benign,\N,intron_variant,0.384,0.9107,1KG_EAS_AF,OTOF
429996,2:26710542:C>T,NM_194248.2:c.1045+1537G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.98,0.001,1KG_EAS_AF,OTOF
429997,2:26710544:C>G,NM_194248.2:c.1045+1535G>C,\N,\N,11/46,Benign,\N,intron_variant,2.532,0.1104,1KG_AFR_AF,OTOF
429998,2:26710545:C>G,NM_194248.2:c.1045+1534G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,2.213,0.001,1KG_SAS_AF,OTOF
429999,2:26710564:C>T,NM_194248.2:c.1045+1515G>A,\N,\N,11/46,Benign,\N,intron_variant,0.249,0.006,1KG_EAS_AF,OTOF
430000,2:26710565:G>A,NM_194248.2:c.1045+1514C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.744,0.001,1KG_EUR_AF,OTOF
430001,2:26710575:C>T,NM_194248.2:c.1045+1504G>A,\N,\N,11/46,Benign,\N,intron_variant,4.213,0.8889,1KG_EAS_AF,OTOF
430002,2:26710658:G>A,NM_194248.2:c.1045+1421C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.892,0.001,1KG_SAS_AF,OTOF
430003,2:26710666:A>G,NM_194248.2:c.1045+1413T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.421,0.001,1KG_SAS_AF,OTOF
430004,2:26710695:G>A,NM_194248.2:c.1045+1384C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,6.273,\N,\N,OTOF
430005,2:26710720:C>T,NM_194248.2:c.1045+1359G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,3.688,0.001,1KG_EAS_AF,OTOF
430006,2:26710741:C>A,NM_194248.2:c.1045+1338G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.623,\N,\N,OTOF
430007,2:26710747:G>A,NM_194248.2:c.1045+1332C>T,\N,\N,11/46,Benign,\N,intron_variant,0.659,0.0144,1KG_AFR_AF,OTOF
430008,2:26710757:AT>A,NM_194248.2:c.1045+1321del,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430009,2:26710793:G>A,NM_194248.2:c.1045+1286C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,5.628,\N,\N,OTOF
430010,2:26710816:C>T,NM_194248.2:c.1045+1263G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,9.849,0.0015,1KG_AFR_AF,OTOF
430011,2:26710882:A>G,NM_194248.2:c.1045+1197T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,4.3,\N,\N,OTOF
430012,2:26710919:T>C,NM_194248.2:c.1045+1160A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,3.997,0.0008,1KG_AFR_AF,OTOF
430013,2:26710920:G>A,NM_194248.2:c.1045+1159C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,4.545,0.0014,1KG_AMR_AF,OTOF
430014,2:26710939:G>T,NM_194248.2:c.1045+1140C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,5.206,\N,\N,OTOF
430015,2:26710993:G>C,NM_194248.2:c.1045+1086C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.462,\N,\N,OTOF
430016,2:26710996:C>G,NM_194248.2:c.1045+1083G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,2.77,\N,\N,OTOF
430017,2:26711002:G>GA,NM_194248.2:c.1045+1076_1045+1077insT,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430018,2:26711096:T>G,NM_194248.2:c.1045+983A>C,\N,\N,11/46,Unknown significance,\N,intron_variant,1.93,\N,\N,OTOF
430019,2:26711106:G>C,NM_194248.2:c.1045+973C>G,\N,\N,11/46,Benign,\N,intron_variant,0.055,0.9425,1KG_AFR_AF,OTOF
430020,2:26711136:C>T,NM_194248.2:c.1045+943G>A,\N,\N,11/46,Benign,\N,intron_variant,2.441,0.3528,1KG_SAS_AF,OTOF
430021,2:26711137:A>G,NM_194248.2:c.1045+942T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.641,0.002,1KG_EAS_AF,OTOF
430022,2:26711152:G>T,NM_194248.2:c.1045+927C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.029,0.001,1KG_EAS_AF,OTOF
430023,2:26711168:T>C,NM_194248.2:c.1045+911A>G,\N,\N,11/46,Benign,\N,intron_variant,2.369,0.0218,1KG_EAS_AF,OTOF
430024,2:26711189:C>G,NM_194248.2:c.1045+890G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,0.182,\N,\N,OTOF
430025,2:26711198:C>T,NM_194248.2:c.1045+881G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.953,\N,\N,OTOF
430026,2:26711208:G>A,NM_194248.2:c.1045+871C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.515,\N,\N,OTOF
430027,2:26711246:G>T,NM_194248.2:c.1045+833C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,2.214,\N,\N,OTOF
430028,2:26711273:C>T,NM_194248.2:c.1045+806G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,3.681,0.0008,1KG_AFR_AF,OTOF
430029,2:26711274:G>A,NM_194248.2:c.1045+805C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,3.414,\N,\N,OTOF
430030,2:26711320:C>T,NM_194248.2:c.1045+759G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,13.67,0.001,1KG_EAS_AF,OTOF
430031,2:26711334:C>G,NM_194248.2:c.1045+745G>C,\N,\N,11/46,Benign,\N,intron_variant,5.085,0.056,1KG_AFR_AF,OTOF
430032,2:26711374:C>A,NM_194248.2:c.1045+705G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.168,0.0008,1KG_AFR_AF,OTOF
430033,2:26711390:C>T,NM_194248.2:c.1045+689G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.904,\N,\N,OTOF
430034,2:26711395:C>T,NM_194248.2:c.1045+684G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.357,\N,\N,OTOF
430035,2:26711420:C>G,NM_194248.2:c.1045+659G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,3.251,\N,\N,OTOF
430036,2:26711470:C>T,NM_194248.2:c.1045+609G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.567,0.0014,1KG_AMR_AF,OTOF
430037,2:26711471:G>A,NM_194248.2:c.1045+608C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.5,0.0014,1KG_AMR_AF,OTOF
430038,2:26711474:G>A,NM_194248.2:c.1045+605C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.605,0.0031,1KG_SAS_AF,OTOF
430039,2:26711487:C>T,NM_194248.2:c.1045+592G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,3.565,\N,\N,OTOF
430040,2:26711513:T>C,NM_194248.2:c.1045+566A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,1.037,\N,\N,OTOF
430041,2:26711520:G>A,NM_194248.2:c.1045+559C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.733,0.001,1KG_SAS_AF,OTOF
430042,2:26711543:G>A,NM_194248.2:c.1045+536C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.9,0.002,1KG_SAS_AF,OTOF
430043,2:26711546:A>G,NM_194248.2:c.1045+533T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,2.402,0.0008,1KG_AFR_AF,OTOF
430044,2:26711553:C>T,NM_194248.2:c.1045+526G>A,\N,\N,11/46,Benign,\N,intron_variant,5.394,0.0179,1KG_EUR_AF,OTOF
430045,2:26711562:C>T,NM_194248.2:c.1045+517G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,5.311,\N,\N,OTOF
430046,2:26711566:C>T,NM_194248.2:c.1045+513G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.291,\N,\N,OTOF
430047,2:26711567:G>A,NM_194248.2:c.1045+512C>T,\N,\N,11/46,Benign,\N,intron_variant,1.816,0.0877,1KG_AFR_AF,OTOF
430048,2:26711580:G>T,NM_194248.2:c.1045+499C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.074,0.001,1KG_EAS_AF,OTOF
430049,2:26711639:G>T,NM_194248.2:c.1045+440C>A,\N,\N,11/46,Benign,\N,intron_variant,0.599,0.0424,1KG_AFR_AF,OTOF
430050,2:26711649:G>T,NM_194248.2:c.1045+430C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.15,0.001,1KG_SAS_AF,OTOF
430051,2:26711651:G>T,NM_194248.2:c.1045+428C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.221,0.001,1KG_EAS_AF,OTOF
430052,2:26711662:G>T,NM_194248.2:c.1045+417C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,4.987,\N,\N,OTOF
430053,2:26711666:A>G,NM_194248.2:c.1045+413T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,5.773,\N,\N,OTOF
430054,2:26711671:G>A,NM_194248.2:c.1045+408C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,7.89,\N,\N,OTOF
430055,2:26711690:G>A,NM_194248.2:c.1045+389C>T,\N,\N,11/46,Benign,\N,intron_variant,8.182,0.0424,1KG_AFR_AF,OTOF
430056,2:26711700:G>A,NM_194248.2:c.1045+379C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.049,0.002,1KG_SAS_AF,OTOF
430057,2:26711711:G>T,NM_194248.2:c.1045+368C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.65,\N,\N,OTOF
430058,2:26711718:G>T,NM_194248.2:c.1045+361C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.59,\N,\N,OTOF
430059,2:26711751:T>C,NM_194248.2:c.1045+328A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,3.158,0.002,1KG_SAS_AF,OTOF
430060,2:26711807:G>A,NM_194248.2:c.1045+272C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,0.836,\N,\N,OTOF
430061,2:26711809:G>A,NM_194248.2:c.1045+270C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,1.442,\N,\N,OTOF
430062,2:26711813:TG>A,NM_194248.2:c.1045+265_1045+266delinsT,\N,\N,11/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430063,2:26711829:C>A,NM_194248.2:c.1045+250G>T,\N,\N,11/46,Benign,\N,intron_variant,4.802,0.3252,1KG_SAS_AF,OTOF
430064,2:26711860:T>G,NM_194248.2:c.1045+219A>C,\N,\N,11/46,Unknown significance,\N,intron_variant,8.697,0.001,1KG_SAS_AF,OTOF
430065,2:26711878:G>A,NM_194248.2:c.1045+201C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,13.87,0.002,1KG_EAS_AF,OTOF
430066,2:26711879:G>A,NM_194248.2:c.1045+200C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,13.57,0.0029,1KG_AMR_AF,OTOF
430067,2:26711913:G>A,NM_194248.2:c.1045+166C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,10.24,0.0008,1KG_AFR_AF,OTOF
430068,2:26711917:G>A,NM_194248.2:c.1045+162C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,7.635,0.001,1KG_EAS_AF,OTOF
430069,2:26711919:G>A,NM_194248.2:c.1045+160C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,10.02,\N,\N,OTOF
430070,2:26711929:C>T,NM_194248.2:c.1045+150G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,11.48,0.001,1KG_SAS_AF,OTOF
430071,2:26711930:G>A,NM_194248.2:c.1045+149C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,12.62,\N,\N,OTOF
430072,2:26711933:G>A,NM_194248.2:c.1045+146C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,14.67,0.0008,1KG_AFR_AF,OTOF
430073,2:26711968:T>C,NM_194248.2:c.1045+111A>G,\N,\N,11/46,Unknown significance,\N,intron_variant,8.519,\N,\N,OTOF
430074,2:26711972:G>C,NM_194248.2:c.1045+107C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,7.016,0.001,1KG_SAS_AF,OTOF
430075,2:26711974:C>G,NM_194248.2:c.1045+105G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,9.345,\N,\N,OTOF
430076,2:26711975:C>A,NM_194248.2:c.1045+104G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,9.569,0.001,1KG_EUR_AF,OTOF
430077,2:26711984:C>A,NM_194248.2:c.1045+95G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,7.129,0.001,1KG_EUR_AF,OTOF
430078,2:26711997:C>G,NM_194248.2:c.1045+82G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,3.9,\N,\N,OTOF
430079,2:26712012:G>A,NM_194248.2:c.1045+67C>T,\N,\N,11/46,Benign,\N,intron_variant,8.944,0.0121,1KG_AFR_AF,OTOF
430080,2:26712013:GGCCCCGTGCACCAC>G,NM_194248.2:c.1045+52_1045+65del,\N,\N,11/46,Benign,\N,intron_variant,7.76,0.112,1KG_AFR_AF,OTOF
430081,2:26712018:C>T,NM_194248.2:c.1045+61G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,1.06,\N,\N,OTOF
430082,2:26712038:C>A,NM_194248.2:c.1045+41G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,8.139,\N,\N,OTOF
430083,2:26712041:T>C,NM_194248.2:c.1045+38A>G,\N,\N,11/46,Benign,\N,intron_variant,2.464,0.00573477,EXAC_AFR_AF,OTOF
430084,2:26712044:A>G,NM_194248.2:c.1045+35T>C,\N,\N,11/46,Unknown significance,\N,intron_variant,4.099,0.0000302115,EXAC_NFE_AF,OTOF
430085,2:26712047:C>T,NM_194248.2:c.1045+32G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,5.826,0.000227066,EVS_AA_AF,OTOF
430086,2:26712050:C>T,NM_194248.2:c.1045+29G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.631,0.00376569,EXAC_FIN_AF,OTOF
430087,2:26712051:G>A,NM_194248.2:c.1045+28C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,2.635,0.00204918,EXAC_OTH_AF,OTOF
430088,2:26712056:ACTGGCCATGCGCAGGTACTCAC>A,NM_194248.2:c.1045+1_1045+22del,\N,\N,11/46,Unknown significance,\N,splice_donor_variant&intron_variant,26.4,\N,\N,OTOF
430089,2:26712058:T>A,NM_194248.2:c.1045+21A>T,\N,\N,11/46,Unknown significance,\N,intron_variant,5.563,0.0000937734,EXAC_SAS_AF,OTOF
430090,2:26712060:G>C,NM_194248.2:c.1045+19C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,0.214,\N,\N,OTOF
430091,2:26712060:G>T,NM_194248.2:c.1045+19C>A,\N,\N,11/46,Unknown significance,\N,intron_variant,0.55,0.000353107,EXAC_AMR_AF,OTOF
430092,2:26712061:C>G,NM_194248.2:c.1045+18G>C,\N,\N,11/46,Unknown significance,\N,intron_variant,1.021,0.0000258719,EXAC_NFE_AF,OTOF
430093,2:26712063:A>ATGCGCAGGTACTCACCTGGCTGCGAG,NM_194248.2:c.1035_1045+15dup,\N,\N,11/46,Unknown significance,\N,intron_variant,0.137,\N,\N,OTOF
430094,2:26712066:C>A,NM_194248.2:c.1045+13G>T,\N,\N,11/46,Unknown significance,\N,intron_variant,8.222,0.0000719252,EXAC_NFE_AF,OTOF
430095,2:26712066:C>T,NM_194248.2:c.1045+13G>A,\N,\N,11/46,Unknown significance,\N,intron_variant,8.145,0.000227169,EVS_AA_AF,OTOF
430096,2:26712067:G>A,NM_194248.2:c.1045+12C>T,\N,\N,11/46,Unknown significance,\N,intron_variant,8.118,0.000435161,EXAC_AMR_AF,OTOF
430097,2:26712067:G>C,NM_194248.2:c.1045+12C>G,\N,\N,11/46,Unknown significance,\N,intron_variant,5.116,0.0000702741,EXAC_NFE_AF,OTOF
430098,2:26712075:T>C,NM_194248.2:c.1045+4A>G,\N,\N,11/46,Unknown significance,\N,splice_region_variant&intron_variant,11.16,0.0000417275,EXAC_NFE_AF,OTOF
430099,2:26712077:A>C,NM_194248.2:c.1045+2T>G,\N,\N,11/46,Likely pathogenic,Deafness| autosomal recessive 9,splice_donor_variant,23.9,0.0000203442,EXAC_NFE_AF,OTOF
430100,2:26712084:T>C,NM_194248.2:c.1040A>G,NP_919224.1:p.Gln347Arg,11/47,\N,Unknown significance,\N,missense_variant,25.2,0.000214731,EXAC_AMR_AF,OTOF
430101,2:26712086:C>G,NM_194248.2:c.1038G>C,NP_919224.1:p.Ser346=,11/47,\N,Unknown significance,\N,synonymous_variant,12.01,0.000105798,EXAC_AMR_AF,OTOF
430102,2:26712087:G>A,NM_194248.2:c.1037C>T,NP_919224.1:p.Ser346Leu,11/47,\N,Likely benign,\N,missense_variant,24,0.000116279,EVS_EA_AF,OTOF
430103,2:26712088:A>C,NM_194248.2:c.1036T>G,NP_919224.1:p.Ser346Ala,11/47,\N,Likely benign,\N,missense_variant,7.389,0.0000181646,EXAC_NFE_AF,OTOF
430104,2:26712089:G>A,NM_194248.2:c.1035C>T,NP_919224.1:p.Tyr345=,11/47,\N,Likely benign,\N,synonymous_variant,2.923,0.00276243,EXAC_OTH_AF,OTOF
430105,2:26712092:C>T,NM_194248.2:c.1032G>A,NP_919224.1:p.Val344=,11/47,\N,Unknown significance,\N,synonymous_variant,13.78,0.000226963,EVS_AA_AF,OTOF
430106,2:26712094:C>T,NM_194248.2:c.1030G>A,NP_919224.1:p.Val344Met,11/47,\N,Unknown significance,\N,missense_variant,29.4,\N,\N,OTOF
430107,2:26712095:G>A,NM_194248.2:c.1029C>T,NP_919224.1:p.Thr343=,11/47,\N,Unknown significance,\N,synonymous_variant,13.42,0.0000524604,EXAC_NFE_AF,OTOF
430108,2:26712101:C>T,NM_194248.2:c.1023G>A,NP_919224.1:p.Val341=,11/47,\N,Unknown significance,\N,synonymous_variant,13.61,0.001,1KG_EUR_AF,OTOF
430109,2:26712103:C>T,NM_194248.2:c.1021G>A,NP_919224.1:p.Val341Met,11/47,\N,Unknown significance,\N,missense_variant,33,0.0000170056,EXAC_NFE_AF,OTOF
430110,2:26712104:G>A,NM_194248.2:c.1020C>T,NP_919224.1:p.Asp340=,11/47,\N,Likely benign,\N,synonymous_variant,10.56,0.00169224,EXAC_AFR_AF,OTOF
430111,2:26712108:A>G,NM_194248.2:c.1016T>C,NP_919224.1:p.Met339Thr,11/47,\N,Unknown significance,\N,missense_variant,23.3,0.0000335706,EXAC_NFE_AF,OTOF
430112,2:26712113:G>A,NM_194248.2:c.1011C>T,NP_919224.1:p.Phe337=,11/47,\N,Unknown significance,\N,synonymous_variant,11.83,0.0000692809,EXAC_SAS_AF,OTOF
430113,2:26712120:C>G,NM_001287489.1:c.1004G>C,NP_001274418.1:p.Gly335Ala,11/46,\N,Unknown significance,\N,missense_variant,26.3,0.000137476,EXAC_SAS_AF,OTOF
430114,2:26712134:A>G,NM_194248.2:c.990T>C,NP_919224.1:p.Ser330=,11/47,\N,Unknown significance,\N,synonymous_variant,1.921,\N,\N,OTOF
430115,2:26712135:C>T,NM_194248.2:c.989G>A,NP_919224.1:p.Ser330Asn,11/47,\N,Likely benign,\N,missense_variant,18.45,\N,\N,OTOF
430116,2:26712138:C>A,NM_194248.2:c.986G>T,NP_919224.1:p.Arg329Leu,11/47,\N,Unknown significance,\N,missense_variant,18.38,0.0000167678,EXAC_NFE_AF,OTOF
430117,2:26712138:C>T,NM_194248.2:c.986G>A,NP_919224.1:p.Arg329His,11/47,\N,Unknown significance,\N,missense_variant,25.6,0.0000697253,EXAC_SAS_AF,OTOF
430118,2:26712139:G>A,NM_194248.2:c.985C>T,NP_919224.1:p.Arg329Cys,11/47,\N,Unknown significance,\N,missense_variant,27.4,0.000126936,EXAC_EAS_AF,OTOF
430119,2:26712145:G>A,NM_194248.2:c.979C>T,NP_919224.1:p.Leu327=,11/47,\N,Unknown significance,\N,synonymous_variant,8.787,0.000116279,EVS_EA_AF,OTOF
430120,2:26712146:G>A,NM_194248.2:c.978C>T,NP_919224.1:p.Asn326=,11/47,\N,Unknown significance,\N,synonymous_variant,8.909,0.00035461,EXAC_SAS_AF,OTOF
430121,2:26712155:G>A,NM_194248.2:c.969C>T,NP_919224.1:p.His323=,11/47,\N,Unknown significance,\N,synonymous_variant,5.233,0.0000352535,EXAC_NFE_AF,OTOF
430122,2:26712156:T>G,NM_194248.2:c.968A>C,NP_919224.1:p.His323Pro,11/47,\N,Unknown significance,\N,missense_variant,26.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430123,2:26712157:G>A,NM_194248.2:c.967C>T,NP_919224.1:p.His323Tyr,11/47,\N,Unknown significance,\N,missense_variant,27.1,0.0000177702,EXAC_NFE_AF,OTOF
430124,2:26712162:A>C,NM_001287489.1:c.962T>G,NP_001274418.1:p.Val321Gly,11/46,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.3,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430125,2:26712173:A>G,NM_194248.2:c.961-10T>C,\N,\N,10/46,Unknown significance,\N,intron_variant,13.67,0.0000193005,EXAC_NFE_AF,OTOF
430126,2:26712174:G>C,NM_194248.2:c.961-11C>G,\N,\N,10/46,Unknown significance,\N,intron_variant,11.43,0.000114969,EXAC_AMR_AF,OTOF
430127,2:26712177:C>T,NM_194248.2:c.961-14G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,8.377,0.000160565,EXAC_EAS_AF,OTOF
430128,2:26712179:A>G,NM_194248.2:c.961-16T>C,\N,\N,10/46,Unknown significance,\N,intron_variant,8.92,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430129,2:26712181:A>G,NM_194248.2:c.961-18T>C,\N,\N,10/46,Unknown significance,\N,intron_variant,0.696,0.000121036,EXAC_AMR_AF,OTOF
430130,2:26712188:C>A,NM_194248.2:c.961-25G>T,\N,\N,10/46,Unknown significance,\N,intron_variant,7.692,0.000256345,EXAC_AMR_AF,OTOF
430131,2:26712188:C>T,NM_194248.2:c.961-25G>A,\N,\N,10/46,Benign,\N,intron_variant,7.489,0.00999744,EXAC_AMR_AF,OTOF
430132,2:26712189:C>T,NM_194248.2:c.961-26G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,5.983,0.000116306,EVS_EA_AF,OTOF
430133,2:26712190:G>A,NM_194248.2:c.961-27C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,7.713,0.0001321,EXAC_AMR_AF,OTOF
430134,2:26712205:G>C,NM_194248.2:c.961-42C>G,\N,\N,10/46,Unknown significance,\N,intron_variant,0.289,0.0000891107,EXAC_SAS_AF,OTOF
430135,2:26712227:T>G,NM_194248.2:c.961-64A>C,\N,\N,10/46,Unknown significance,\N,intron_variant,6.476,0.0008,1KG_AFR_AF,OTOF
430136,2:26712235:C>T,NM_194248.2:c.961-72G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,6.005,\N,\N,OTOF
430137,2:26712238:G>C,NM_194248.2:c.961-75C>G,\N,\N,10/46,Unknown significance,\N,intron_variant,0.489,\N,\N,OTOF
430138,2:26712257:G>A,NM_194248.2:c.961-94C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,7.576,\N,\N,OTOF
430139,2:26712263:G>A,NM_194248.2:c.961-100C>T,\N,\N,10/46,Benign,\N,intron_variant,4.015,0.0051,1KG_SAS_AF,OTOF
430140,2:26712334:A>G,NM_194248.2:c.961-171T>C,\N,\N,10/46,Unknown significance,\N,intron_variant,3.57,\N,\N,OTOF
430141,2:26712342:C>T,NM_194248.2:c.961-179G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,0.577,\N,\N,OTOF
430142,2:26712344:G>A,NM_194248.2:c.961-181C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,4.116,0.001,1KG_SAS_AF,OTOF
430143,2:26712346:C>T,NM_194248.2:c.961-183G>A,\N,\N,10/46,Benign,\N,intron_variant,2.998,0.0061,1KG_SAS_AF,OTOF
430144,2:26712347:G>A,NM_194248.2:c.961-184C>T,\N,\N,10/46,Benign,\N,intron_variant,2.334,0.0069,1KG_EAS_AF,OTOF
430145,2:26712376:AG>A,NM_194248.2:c.960+169del,\N,\N,10/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430146,2:26712388:G>A,NM_194248.2:c.960+158C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,4.87,0.0023,1KG_AFR_AF,OTOF
430147,2:26712405:G>C,NM_194248.2:c.960+141C>G,\N,\N,10/46,Benign,\N,intron_variant,3.019,0.0749,1KG_AMR_AF,OTOF
430148,2:26712437:G>A,NM_194248.2:c.960+109C>T,\N,\N,10/46,Benign,\N,intron_variant,1.019,0.0297,1KG_SAS_AF,OTOF
430149,2:26712439:C>T,NM_194248.2:c.960+107G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,3.134,0.0008,1KG_AFR_AF,OTOF
430150,2:26712443:G>A,NM_194248.2:c.960+103C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,6.538,0.0014,1KG_AMR_AF,OTOF
430151,2:26712454:A>C,NM_194248.2:c.960+92T>G,\N,\N,10/46,Unknown significance,\N,intron_variant,1.921,0.0008,1KG_AFR_AF,OTOF
430152,2:26712478:T>A,NM_194248.2:c.960+68A>T,\N,\N,10/46,Unknown significance,\N,intron_variant,7.236,0.001,1KG_EAS_AF,OTOF
430153,2:26712496:G>A,NM_194248.2:c.960+50C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,10.42,0.002,1KG_EUR_AF,OTOF
430154,2:26712507:G>A,NM_194248.2:c.960+39C>T,\N,\N,10/46,Unknown significance,\N,intron_variant,6.04,0.000015454,EXAC_NFE_AF,OTOF
430155,2:26712510:AGT>A,NM_194248.2:c.960+34_960+35del,\N,\N,10/46,Unknown significance,\N,intron_variant,4.022,0.000199203,EXAC_AFR_AF,OTOF
430156,2:26712516:C>T,NM_194248.2:c.960+30G>A,\N,\N,10/46,Unknown significance,\N,intron_variant,4.653,0.000116795,EXAC_EAS_AF,OTOF
430157,2:26712520:C>A,NM_194248.2:c.960+26G>T,\N,\N,10/46,Unknown significance,\N,intron_variant,7.453,0.0000154107,EXAC_NFE_AF,OTOF
430158,2:26712521:C>T,NM_194248.2:c.960+25G>A,\N,\N,10/46,Benign,\N,intron_variant,6.039,0.0136,1KG_AFR_AF,OTOF
430159,2:26712522:G>A,NM_194248.2:c.960+24C>T,\N,\N,10/46,Benign,\N,intron_variant,7.226,0.01,OTO_TR_AF,OTOF
430160,2:26712526:A>G,NM_194248.2:c.960+20T>C,\N,\N,10/46,Unknown significance,\N,intron_variant,13.53,0.0000611098,EXAC_SAS_AF,OTOF
430161,2:26712529:G>C,NM_194248.2:c.960+17C>G,\N,\N,10/46,Unknown significance,\N,intron_variant,13.93,0.0000153657,EXAC_NFE_AF,OTOF
430162,2:26712539:C>A,NM_194248.2:c.960+7G>T,\N,\N,10/46,Unknown significance,\N,splice_region_variant&intron_variant,18.37,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430163,2:26712545:C>A,NM_194248.2:c.960+1G>T,\N,\N,10/46,Unknown significance,\N,splice_donor_variant,28.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430164,2:26712546:C>T,NM_194248.2:c.960G>A,NP_919224.1:p.Ser320=,10/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,20.5,0.000232558,EVS_EA_AF,OTOF
430165,2:26712547:G>A,NM_194248.2:c.959C>T,NP_919224.1:p.Ser320Leu,10/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.000232558,EVS_EA_AF,OTOF
430166,2:26712558:G>A,NM_194248.2:c.948C>T,NP_919224.1:p.Ile316=,10/47,\N,Unknown significance,\N,synonymous_variant,14.11,\N,\N,OTOF
430167,2:26712561:C>T,NM_194248.2:c.945G>A,NP_919224.1:p.Lys315=,10/47,\N,Benign,\N,synonymous_variant,13.86,0.121425,EVS_AA_AF,OTOF
430168,2:26712562:T>G,NM_194248.2:c.944A>C,NP_919224.1:p.Lys315Thr,10/47,\N,Unknown significance,\N,missense_variant,28.2,0.0000869414,EXAC_AMR_AF,OTOF
430169,2:26712563:T>C,NM_194248.2:c.943A>G,NP_919224.1:p.Lys315Glu,10/47,\N,Unknown significance,\N,missense_variant,28.4,0.0000305614,EXAC_NFE_AF,OTOF
430170,2:26712570:C>A,NM_194248.2:c.936G>T,NP_919224.1:p.Met312Ile,10/47,\N,Unknown significance,\N,missense_variant,25.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430171,2:26712572:T>C,NM_194248.2:c.934A>G,NP_919224.1:p.Met312Val,10/47,\N,Unknown significance,\N,missense_variant,14.38,0.0000607533,EXAC_SAS_AF,OTOF
430172,2:26712575:C>G,NM_194248.2:c.931G>C,NP_919224.1:p.Val311Leu,10/47,\N,Unknown significance,\N,missense_variant,17.57,0.0000980969,EXAC_AFR_AF,OTOF
430173,2:26712579:C>T,NM_194248.2:c.927G>A,NP_919224.1:p.Pro309=,10/47,\N,Unknown significance,\N,synonymous_variant,12.91,0.000121462,EXAC_SAS_AF,OTOF
430174,2:26712579:C>A,NM_194248.2:c.927G>T,NP_919224.1:p.Pro309=,10/47,\N,Unknown significance,\N,synonymous_variant,13.93,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430175,2:26712580:G>A,NM_001287489.1:c.926C>T,NP_001274418.1:p.Pro309Leu,10/46,\N,Unknown significance,\N,missense_variant,26.7,0.002,1KG_SAS_AF,OTOF
430176,2:26712581:G>A,NM_194248.2:c.925C>T,NP_919224.1:p.Pro309Ser,10/47,\N,Unknown significance,\N,missense_variant,20.6,0.000116279,EVS_EA_AF,OTOF
430177,2:26712588:A>G,NM_194248.2:c.918T>C,NP_919224.1:p.His306=,10/47,\N,Unknown significance,\N,synonymous_variant,0.057,0.00011636,EXAC_EAS_AF,OTOF
430178,2:26712589:T>C,NM_194248.2:c.917A>G,NP_919224.1:p.His306Arg,10/47,\N,Unknown significance,\N,missense_variant,22.9,0.002,1KG_EUR_AF,OTOF
430179,2:26712596:C>T,NM_194248.2:c.910G>A,NP_919224.1:p.Asp304Asn,10/47,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,OTOF
430180,2:26712597:G>A,NM_194248.2:c.909C>T,NP_919224.1:p.Phe303=,10/47,\N,Unknown significance,\N,synonymous_variant,11.97,0.000226963,EVS_AA_AF,OTOF
430181,2:26712598:A>G,NM_194248.2:c.908T>C,NP_919224.1:p.Phe303Ser,10/47,\N,Unknown significance,\N,missense_variant,29.1,0.0000871232,EXAC_AMR_AF,OTOF
430182,2:26712602:C>T,NM_001287489.1:c.904G>A,NP_001274418.1:p.Val302Ile,10/46,\N,Unknown significance,\N,missense_variant,32,0.000232883,EXAC_EAS_AF,OTOF
430183,2:26712603:G>A,NM_194248.2:c.903C>T,NP_919224.1:p.Phe301=,10/47,\N,Unknown significance,\N,synonymous_variant,13.23,0.0000988533,EXAC_AFR_AF,OTOF
430184,2:26712611:G>A,NM_194248.2:c.898-3C>T,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,10.9,\N,\N,OTOF
430185,2:26712614:G>T,NM_194248.2:c.898-6C>A,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,7.506,0.0014,1KG_AMR_AF,OTOF
430186,2:26712614:G>A,NM_194248.2:c.898-6C>T,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,8.101,0.0000153728,EXAC_NFE_AF,OTOF
430187,2:26712614:G>C,NM_194248.2:c.898-6C>G,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,6.19,0.00243828,EXAC_FIN_AF,OTOF
430188,2:26712615:G>C,NM_194248.2:c.898-7C>G,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,5.873,0.0000609905,EXAC_SAS_AF,OTOF
430189,2:26712618:G>C,NM_194248.2:c.898-10C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,10.32,0.000226963,EVS_AA_AF,OTOF
430190,2:26712634:C>G,NM_194248.2:c.898-26G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,7.433,0.0000154302,EXAC_NFE_AF,OTOF
430191,2:26712636:G>A,NM_194248.2:c.898-28C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.586,0.000015435,EXAC_NFE_AF,OTOF
430192,2:26712644:GGGCAGCAGCAACAGCCCA>G,NM_194248.2:c.898-54_898-37del,\N,\N,9/46,Benign,\N,intron_variant,7.85,0.0241186,EXAC_AMR_AF,OTOF
430193,2:26712647:C>T,NM_194248.2:c.898-39G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.378,0.0000154851,EXAC_NFE_AF,OTOF
430194,2:26712649:G>A,NM_194248.2:c.898-41C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,6.93,0.0000155044,EXAC_NFE_AF,OTOF
430195,2:26712652:G>T,NM_194248.2:c.898-44C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.876,0.000184139,EXAC_SAS_AF,OTOF
430196,2:26712659:C>G,NM_194248.2:c.898-51G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,4.193,0.000015539,EXAC_NFE_AF,OTOF
430197,2:26712663:G>C,NM_194248.2:c.898-55C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,11.81,\N,\N,OTOF
430198,2:26712687:C>T,NM_194248.2:c.898-79G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.315,\N,\N,OTOF
430199,2:26712688:G>A,NM_194248.2:c.898-80C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.553,0.001,1KG_SAS_AF,OTOF
430200,2:26712710:A>G,NM_194248.2:c.898-102T>C,\N,\N,9/46,Benign,\N,intron_variant,12.28,0.0756,1KG_AFR_AF,OTOF
430201,2:26712742:C>G,NM_194248.2:c.898-134G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.834,\N,\N,OTOF
430202,2:26712742:C>T,NM_194248.2:c.898-134G>A,\N,\N,9/46,Benign,\N,intron_variant,3.786,0.0401,1KG_AFR_AF,OTOF
430203,2:26712745:C>T,NM_194248.2:c.898-137G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.22,0.001,1KG_EAS_AF,OTOF
430204,2:26712769:T>C,NM_194248.2:c.898-161A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.719,\N,\N,OTOF
430205,2:26712788:G>A,NM_194248.2:c.898-180C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.767,0.001,1KG_SAS_AF,OTOF
430206,2:26712813:G>C,NM_194248.2:c.898-205C>G,\N,\N,9/46,Benign,\N,intron_variant,0.48,0.0106,1KG_AFR_AF,OTOF
430207,2:26712822:G>A,NM_194248.2:c.898-214C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.27,0.001,1KG_EUR_AF,OTOF
430208,2:26712843:G>C,NM_194248.2:c.898-235C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.967,0.0023,1KG_AFR_AF,OTOF
430209,2:26712859:C>T,NM_194248.2:c.898-251G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.512,0.001,1KG_EAS_AF,OTOF
430210,2:26712871:C>T,NM_194248.2:c.898-263G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.258,0.002,1KG_EUR_AF,OTOF
430211,2:26712873:G>GC,NM_194248.2:c.898-266dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430212,2:26712880:C>A,NM_194248.2:c.898-272G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.236,\N,\N,OTOF
430213,2:26712896:A>G,NM_194248.2:c.898-288T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,10.03,0.001,1KG_EAS_AF,OTOF
430214,2:26712899:A>C,NM_194248.2:c.898-291T>G,\N,\N,9/46,Benign,\N,intron_variant,7.688,0.0082,1KG_SAS_AF,OTOF
430215,2:26712909:G>A,NM_194248.2:c.898-301C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.428,0.003,1KG_EAS_AF,OTOF
430216,2:26712932:G>A,NM_194248.2:c.898-324C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.411,\N,\N,OTOF
430217,2:26712934:T>A,NM_194248.2:c.898-326A>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.572,\N,\N,OTOF
430218,2:26712941:C>T,NM_194248.2:c.898-333G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.652,\N,\N,OTOF
430219,2:26712961:C>A,NM_194248.2:c.898-353G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.3,0.001,1KG_EUR_AF,OTOF
430220,2:26712992:C>A,NM_194248.2:c.898-384G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,18.29,\N,\N,OTOF
430221,2:26712992:C>G,NM_194248.2:c.898-384G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,16.87,0.001,1KG_SAS_AF,OTOF
430222,2:26713029:C>A,NM_194248.2:c.898-421G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.013,\N,\N,OTOF
430223,2:26713094:T>G,NM_194248.2:c.898-486A>C,\N,\N,9/46,Unknown significance,\N,intron_variant,5.195,\N,\N,OTOF
430224,2:26713097:C>T,NM_194248.2:c.898-489G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.76,0.0014,1KG_AMR_AF,OTOF
430225,2:26713119:C>T,NM_194248.2:c.898-511G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.073,\N,\N,OTOF
430226,2:26713166:T>G,NM_194248.2:c.898-558A>C,\N,\N,9/46,Unknown significance,\N,intron_variant,11.07,\N,\N,OTOF
430227,2:26713192:G>A,NM_194248.2:c.898-584C>T,\N,\N,9/46,Benign,\N,intron_variant,2.407,0.0809,1KG_AFR_AF,OTOF
430228,2:26713197:A>G,NM_194248.2:c.898-589T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.498,\N,\N,OTOF
430229,2:26713199:CTG>C,NM_194248.2:c.898-593_898-592del,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430230,2:26713214:A>C,NM_194248.2:c.898-606T>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.219,\N,\N,OTOF
430231,2:26713231:A>T,NM_194248.2:c.898-623T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.577,0.0008,1KG_AFR_AF,OTOF
430232,2:26713263:G>A,NM_194248.2:c.898-655C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.164,0.002,1KG_EAS_AF,OTOF
430233,2:26713304:G>T,NM_194248.2:c.898-696C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.555,0.0045,1KG_AFR_AF,OTOF
430234,2:26713376:T>C,NM_194248.2:c.898-768A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,3.333,\N,\N,OTOF
430235,2:26713402:C>A,NM_194248.2:c.898-794G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.393,\N,\N,OTOF
430236,2:26713417:G>A,NM_194248.2:c.898-809C>T,\N,\N,9/46,Benign,\N,intron_variant,4.175,0.0068,1KG_AFR_AF,OTOF
430237,2:26713430:G>A,NM_194248.2:c.898-822C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.838,0.001,1KG_SAS_AF,OTOF
430238,2:26713445:T>A,NM_194248.2:c.898-837A>T,\N,\N,9/46,Benign,\N,intron_variant,5.231,0.0893,1KG_AFR_AF,OTOF
430239,2:26713448:G>T,NM_194248.2:c.898-840C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.809,\N,\N,OTOF
430240,2:26713452:G>A,NM_194248.2:c.898-844C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.261,\N,\N,OTOF
430241,2:26713460:T>TG,NM_194248.2:c.898-853dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430242,2:26713464:C>T,NM_194248.2:c.898-856G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.191,\N,\N,OTOF
430243,2:26713465:G>A,NM_194248.2:c.898-857C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.565,\N,\N,OTOF
430244,2:26713473:C>A,NM_194248.2:c.898-865G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.978,\N,\N,OTOF
430245,2:26713473:C>T,NM_194248.2:c.898-865G>A,\N,\N,9/46,Benign,\N,intron_variant,0.61,0.006,1KG_EUR_AF,OTOF
430246,2:26713542:C>G,NM_194248.2:c.898-934G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,1.839,\N,\N,OTOF
430247,2:26713574:G>A,NM_194248.2:c.898-966C>T,\N,\N,9/46,Benign,\N,intron_variant,0.878,0.0133,1KG_SAS_AF,OTOF
430248,2:26713621:C>T,NM_194248.2:c.898-1013G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,7.354,\N,\N,OTOF
430249,2:26713632:G>A,NM_194248.2:c.898-1024C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.39,0.001,1KG_EUR_AF,OTOF
430250,2:26713641:T>C,NM_194248.2:c.898-1033A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.093,\N,\N,OTOF
430251,2:26713647:A>AG,NM_194248.2:c.898-1040dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430252,2:26713664:G>A,NM_194248.2:c.898-1056C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.464,0.001,1KG_EAS_AF,OTOF
430253,2:26713696:A>G,NM_194248.2:c.898-1088T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.642,\N,\N,OTOF
430254,2:26713723:A>G,NM_194248.2:c.898-1115T>C,\N,\N,9/46,Benign,\N,intron_variant,0.123,0.9425,1KG_AFR_AF,OTOF
430255,2:26713738:G>A,NM_194248.2:c.898-1130C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.286,\N,\N,OTOF
430256,2:26713759:G>A,NM_194248.2:c.898-1151C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.108,0.002,1KG_SAS_AF,OTOF
430257,2:26713799:C>T,NM_194248.2:c.898-1191G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.626,\N,\N,OTOF
430258,2:26713824:C>T,NM_194248.2:c.898-1216G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,3.105,0.001,1KG_EUR_AF,OTOF
430259,2:26713825:G>A,NM_194248.2:c.898-1217C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.454,\N,\N,OTOF
430260,2:26713852:C>T,NM_194248.2:c.898-1244G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.709,0.0008,1KG_AFR_AF,OTOF
430261,2:26713875:C>A,NM_194248.2:c.898-1267G>T,\N,\N,9/46,Benign,\N,intron_variant,7.807,0.087,1KG_AFR_AF,OTOF
430262,2:26713892:T>A,NM_194248.2:c.898-1284A>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.703,\N,\N,OTOF
430263,2:26713902:G>A,NM_194248.2:c.898-1294C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,6.217,0.001,1KG_SAS_AF,OTOF
430264,2:26713907:T>C,NM_194248.2:c.898-1299A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,3.993,\N,\N,OTOF
430265,2:26713935:C>A,NM_194248.2:c.898-1327G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,9.721,0.0008,1KG_AFR_AF,OTOF
430266,2:26713951:C>G,NM_194248.2:c.898-1343G>C,\N,\N,9/46,Benign,\N,intron_variant,4.551,0.0061,1KG_AFR_AF,OTOF
430267,2:26713985:G>A,NM_194248.2:c.898-1377C>T,\N,\N,9/46,Benign,\N,intron_variant,1.015,0.087,1KG_AFR_AF,OTOF
430268,2:26713995:C>G,NM_194248.2:c.898-1387G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,0.815,0.001,1KG_SAS_AF,OTOF
430269,2:26714020:G>A,NM_194248.2:c.898-1412C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.402,0.0031,1KG_SAS_AF,OTOF
430270,2:26714048:G>A,NM_194248.2:c.898-1440C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.723,\N,\N,OTOF
430271,2:26714064:G>C,NM_194248.2:c.898-1456C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.475,\N,\N,OTOF
430272,2:26714095:A>G,NM_194248.2:c.898-1487T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.397,0.0015,1KG_AFR_AF,OTOF
430273,2:26714114:A>G,NM_194248.2:c.898-1506T>C,\N,\N,9/46,Benign,\N,intron_variant,4.092,0.005,1KG_EAS_AF,OTOF
430274,2:26714165:A>C,NM_194248.2:c.898-1557T>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.571,\N,\N,OTOF
430275,2:26714192:G>A,NM_194248.2:c.898-1584C>T,\N,\N,9/46,Benign,\N,intron_variant,0.318,0.0068,1KG_AFR_AF,OTOF
430276,2:26714192:G>T,NM_194248.2:c.898-1584C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.088,0.0029,1KG_AMR_AF,OTOF
430277,2:26714205:A>G,NM_194248.2:c.898-1597T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.664,0.0008,1KG_AFR_AF,OTOF
430278,2:26714214:C>G,NM_194248.2:c.898-1606G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,1.995,\N,\N,OTOF
430279,2:26714220:G>T,NM_194248.2:c.898-1612C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.778,\N,\N,OTOF
430280,2:26714259:G>A,NM_194248.2:c.898-1651C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.534,\N,\N,OTOF
430281,2:26714321:T>A,NM_194248.2:c.898-1713A>T,\N,\N,9/46,Benign,\N,intron_variant,5.534,0.0072,1KG_SAS_AF,OTOF
430282,2:26714332:T>C,NM_194248.2:c.898-1724A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.064,\N,\N,OTOF
430283,2:26714378:A>T,NM_194248.2:c.898-1770T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.695,0.001,1KG_EAS_AF,OTOF
430284,2:26714425:C>T,NM_194248.2:c.898-1817G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.217,\N,\N,OTOF
430285,2:26714426:T>G,NM_194248.2:c.898-1818A>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.46,\N,\N,OTOF
430286,2:26714435:C>T,NM_194248.2:c.898-1827G>A,\N,\N,9/46,Benign,\N,intron_variant,4.251,0.0061,1KG_SAS_AF,OTOF
430287,2:26714506:G>A,NM_194248.2:c.898-1898C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.376,\N,\N,OTOF
430288,2:26714515:C>T,NM_194248.2:c.898-1907G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.039,\N,\N,OTOF
430289,2:26714532:G>C,NM_194248.2:c.898-1924C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.092,\N,\N,OTOF
430290,2:26714534:G>A,NM_194248.2:c.898-1926C>T,\N,\N,9/46,Benign,\N,intron_variant,5.473,0.9087,1KG_EAS_AF,OTOF
430291,2:26714535:C>T,NM_194248.2:c.898-1927G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,8.023,0.0038,1KG_AFR_AF,OTOF
430292,2:26714536:G>A,NM_194248.2:c.898-1928C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.642,\N,\N,OTOF
430293,2:26714564:G>A,NM_194248.2:c.898-1956C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.164,0.0023,1KG_AFR_AF,OTOF
430294,2:26714605:C>T,NM_194248.2:c.898-1997G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.236,0.004,1KG_EUR_AF,OTOF
430295,2:26714640:A>T,NM_194248.2:c.898-2032T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.715,0.001,1KG_EUR_AF,OTOF
430296,2:26714652:G>A,NM_194248.2:c.898-2044C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.58,0.001,1KG_EUR_AF,OTOF
430297,2:26714662:G>T,NM_194248.2:c.898-2054C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.694,0.002,1KG_EAS_AF,OTOF
430298,2:26714671:G>A,NM_194248.2:c.898-2063C>T,\N,\N,9/46,Benign,\N,intron_variant,6.23,0.0119,1KG_EUR_AF,OTOF
430299,2:26714681:C>T,NM_194248.2:c.898-2073G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.149,0.0008,1KG_AFR_AF,OTOF
430300,2:26714684:A>G,NM_194248.2:c.898-2076T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.968,\N,\N,OTOF
430301,2:26714690:G>C,NM_194248.2:c.898-2082C>G,\N,\N,9/46,Benign,\N,intron_variant,0.406,0.0099,1KG_EUR_AF,OTOF
430302,2:26714702:G>A,NM_194248.2:c.898-2094C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.011,\N,\N,OTOF
430303,2:26714706:C>T,NM_194248.2:c.898-2098G>A,\N,\N,9/46,Benign,\N,intron_variant,2.402,0.0855,1KG_AFR_AF,OTOF
430304,2:26714720:T>C,NM_194248.2:c.898-2112A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.197,0.002,1KG_EAS_AF,OTOF
430305,2:26714758:C>G,NM_194248.2:c.898-2150G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.261,0.0008,1KG_AFR_AF,OTOF
430306,2:26714876:A>C,NM_194248.2:c.898-2268T>G,\N,\N,9/46,Unknown significance,\N,intron_variant,7.779,\N,\N,OTOF
430307,2:26714878:C>T,NM_194248.2:c.898-2270G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,10.05,\N,\N,OTOF
430308,2:26714912:G>A,NM_194248.2:c.898-2304C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.99,0.001,1KG_SAS_AF,OTOF
430309,2:26714918:G>A,NM_194248.2:c.898-2310C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.21,0.0008,1KG_AFR_AF,OTOF
430310,2:26714996:G>C,NM_194248.2:c.898-2388C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.33,0.0014,1KG_AMR_AF,OTOF
430311,2:26715018:T>C,NM_194248.2:c.898-2410A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.413,\N,\N,OTOF
430312,2:26715020:G>A,NM_194248.2:c.898-2412C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.74,\N,\N,OTOF
430313,2:26715052:G>C,NM_194248.2:c.898-2444C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.01,\N,\N,OTOF
430314,2:26715056:G>A,NM_194248.2:c.898-2448C>T,\N,\N,9/46,Benign,\N,intron_variant,1.105,0.0101,1KG_AMR_AF,OTOF
430315,2:26715096:T>C,NM_194248.2:c.898-2488A>G,\N,\N,9/46,Benign,\N,intron_variant,5.866,0.0635,1KG_AFR_AF,OTOF
430316,2:26715120:G>A,NM_194248.2:c.898-2512C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,8.931,0.001,1KG_EUR_AF,OTOF
430317,2:26715173:C>T,NM_194248.2:c.898-2565G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.65,\N,\N,OTOF
430318,2:26715174:G>A,NM_194248.2:c.898-2566C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.326,\N,\N,OTOF
430319,2:26715178:C>T,NM_194248.2:c.898-2570G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.416,0.0008,1KG_AFR_AF,OTOF
430320,2:26715192:C>T,NM_194248.2:c.898-2584G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.334,0.001,1KG_EAS_AF,OTOF
430321,2:26715203:A>G,NM_194248.2:c.898-2595T>C,\N,\N,9/46,Benign,\N,intron_variant,4.281,0.0089,1KG_EAS_AF,OTOF
430322,2:26715204:C>T,NM_194248.2:c.898-2596G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.475,\N,\N,OTOF
430323,2:26715228:C>T,NM_194248.2:c.897+2582G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.778,\N,\N,OTOF
430324,2:26715265:T>A,NM_194248.2:c.897+2545A>T,\N,\N,9/46,Unknown significance,\N,intron_variant,9.621,0.001,1KG_EUR_AF,OTOF
430325,2:26715329:G>A,NM_194248.2:c.897+2481C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.71,0.0014,1KG_AMR_AF,OTOF
430326,2:26715343:T>C,NM_194248.2:c.897+2467A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.407,0.0015,1KG_AFR_AF,OTOF
430327,2:26715350:G>A,NM_194248.2:c.897+2460C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.839,\N,\N,OTOF
430328,2:26715358:A>G,NM_194248.2:c.897+2452T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.28,\N,\N,OTOF
430329,2:26715359:T>C,NM_194248.2:c.897+2451A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.61,\N,\N,OTOF
430330,2:26715362:G>A,NM_194248.2:c.897+2448C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.585,\N,\N,OTOF
430331,2:26715369:A>T,NM_194248.2:c.897+2441T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.575,0.0038,1KG_AFR_AF,OTOF
430332,2:26715374:G>GT,NM_194248.2:c.897+2435_897+2436insA,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430333,2:26715404:C>T,NM_194248.2:c.897+2406G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.357,0.001,1KG_SAS_AF,OTOF
430334,2:26715412:G>A,NM_194248.2:c.897+2398C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.2,\N,\N,OTOF
430335,2:26715456:C>T,NM_194248.2:c.897+2354G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.373,\N,\N,OTOF
430336,2:26715509:T>C,NM_194248.2:c.897+2301A>G,\N,\N,9/46,Benign,\N,intron_variant,2.385,0.9097,1KG_EAS_AF,OTOF
430337,2:26715510:G>A,NM_194248.2:c.897+2300C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.748,0.001,1KG_SAS_AF,OTOF
430338,2:26715563:G>A,NM_194248.2:c.897+2247C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.345,0.002,1KG_EUR_AF,OTOF
430339,2:26715625:A>G,NM_194248.2:c.897+2185T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.323,\N,\N,OTOF
430340,2:26715665:C>A,NM_194248.2:c.897+2145G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,14.43,0.001,1KG_EUR_AF,OTOF
430341,2:26715683:C>A,NM_194248.2:c.897+2127G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.188,\N,\N,OTOF
430342,2:26715694:G>T,NM_194248.2:c.897+2116C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,3.197,0.001,1KG_SAS_AF,OTOF
430343,2:26715716:G>A,NM_194248.2:c.897+2094C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.862,0.001,1KG_EAS_AF,OTOF
430344,2:26715728:C>T,NM_194248.2:c.897+2082G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.155,\N,\N,OTOF
430345,2:26715729:G>A,NM_194248.2:c.897+2081C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.628,\N,\N,OTOF
430346,2:26715856:G>C,NM_194248.2:c.897+1954C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.162,\N,\N,OTOF
430347,2:26715877:T>C,NM_194248.2:c.897+1933A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.766,0.001,1KG_SAS_AF,OTOF
430348,2:26715889:C>A,NM_194248.2:c.897+1921G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.161,\N,\N,OTOF
430349,2:26715890:G>A,NM_194248.2:c.897+1920C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.674,0.0008,1KG_AFR_AF,OTOF
430350,2:26715893:G>A,NM_194248.2:c.897+1917C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.009,0.0014,1KG_AMR_AF,OTOF
430351,2:26715909:T>G,NM_194248.2:c.897+1901A>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.115,\N,\N,OTOF
430352,2:26715919:T>C,NM_194248.2:c.897+1891A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.925,\N,\N,OTOF
430353,2:26715927:A>G,NM_194248.2:c.897+1883T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,4.369,\N,\N,OTOF
430354,2:26715946:C>T,NM_194248.2:c.897+1864G>A,\N,\N,9/46,Benign,\N,intron_variant,7.959,0.0454,1KG_AFR_AF,OTOF
430355,2:26715971:T>C,NM_194248.2:c.897+1839A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.691,0.0029,1KG_AMR_AF,OTOF
430356,2:26715978:G>A,NM_194248.2:c.897+1832C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,6.378,0.0014,1KG_AMR_AF,OTOF
430357,2:26715986:A>G,NM_194248.2:c.897+1824T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,1.883,0.001,1KG_EAS_AF,OTOF
430358,2:26716045:C>G,NM_194248.2:c.897+1765G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,4.728,\N,\N,OTOF
430359,2:26716074:A>G,NM_194248.2:c.897+1736T>C,\N,\N,9/46,Benign,\N,intron_variant,3.243,0.0112,1KG_SAS_AF,OTOF
430360,2:26716081:T>G,NM_194248.2:c.897+1729A>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.27,\N,\N,OTOF
430361,2:26716086:T>C,NM_194248.2:c.897+1724A>G,\N,\N,9/46,Benign,\N,intron_variant,0.508,0.0159,1KG_EUR_AF,OTOF
430362,2:26716089:T>C,NM_194248.2:c.897+1721A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.525,\N,\N,OTOF
430363,2:26716097:A>G,NM_194248.2:c.897+1713T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,0.511,0.001,1KG_EAS_AF,OTOF
430364,2:26716163:A>G,NM_194248.2:c.897+1647T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,2.528,0.0008,1KG_AFR_AF,OTOF
430365,2:26716234:C>T,NM_194248.2:c.897+1576G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,11.67,\N,\N,OTOF
430366,2:26716248:C>T,NM_194248.2:c.897+1562G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.55,0.002,1KG_EUR_AF,OTOF
430367,2:26716273:C>T,NM_194248.2:c.897+1537G>A,\N,\N,9/46,Benign,\N,intron_variant,4.689,0.0862,1KG_AFR_AF,OTOF
430368,2:26716283:C>T,NM_194248.2:c.897+1527G>A,\N,\N,9/46,Benign,\N,intron_variant,7.784,0.2141,1KG_AFR_AF,OTOF
430369,2:26716290:C>A,NM_194248.2:c.897+1520G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,8.059,\N,\N,OTOF
430370,2:26716324:A>T,NM_194248.2:c.897+1486T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,7.718,0.001,1KG_SAS_AF,OTOF
430371,2:26716331:A>G,NM_194248.2:c.897+1479T>C,\N,\N,9/46,Benign,\N,intron_variant,5.05,0.9097,1KG_EAS_AF,OTOF
430372,2:26716354:G>A,NM_194248.2:c.897+1456C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.602,\N,\N,OTOF
430373,2:26716364:T>A,NM_194248.2:c.897+1446A>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.916,0.001,1KG_EAS_AF,OTOF
430374,2:26716369:G>C,NM_194248.2:c.897+1441C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,2.751,\N,\N,OTOF
430375,2:26716403:G>A,NM_194248.2:c.897+1407C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,7.481,\N,\N,OTOF
430376,2:26716404:C>T,NM_194248.2:c.897+1406G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,9.049,0.004,1KG_EAS_AF,OTOF
430377,2:26716407:G>A,NM_194248.2:c.897+1403C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,8.128,\N,\N,OTOF
430378,2:26716407:G>T,NM_194248.2:c.897+1403C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.701,\N,\N,OTOF
430379,2:26716449:G>A,NM_194248.2:c.897+1361C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.824,0.0014,1KG_AMR_AF,OTOF
430380,2:26716484:G>A,NM_194248.2:c.897+1326C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.197,\N,\N,OTOF
430381,2:26716489:C>T,NM_194248.2:c.897+1321G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.371,\N,\N,OTOF
430382,2:26716496:C>T,NM_194248.2:c.897+1314G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.895,0.0015,1KG_AFR_AF,OTOF
430383,2:26716497:C>A,NM_194248.2:c.897+1313G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.84,0.0015,1KG_AFR_AF,OTOF
430384,2:26716501:C>T,NM_194248.2:c.897+1309G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.132,0.0008,1KG_AFR_AF,OTOF
430385,2:26716512:C>A,NM_194248.2:c.897+1298G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.515,0.001,1KG_SAS_AF,OTOF
430386,2:26716526:A>G,NM_194248.2:c.897+1284T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,1.873,\N,\N,OTOF
430387,2:26716531:C>T,NM_194248.2:c.897+1279G>A,\N,\N,9/46,Benign,\N,intron_variant,0.265,0.008,1KG_EUR_AF,OTOF
430388,2:26716532:G>A,NM_194248.2:c.897+1278C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.483,\N,\N,OTOF
430389,2:26716547:G>A,NM_194248.2:c.897+1263C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.337,0.001,1KG_EAS_AF,OTOF
430390,2:26716549:G>A,NM_194248.2:c.897+1261C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.359,\N,\N,OTOF
430391,2:26716550:G>C,NM_194248.2:c.897+1260C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.117,\N,\N,OTOF
430392,2:26716559:C>T,NM_194248.2:c.897+1251G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.233,\N,\N,OTOF
430393,2:26716572:A>C,NM_194248.2:c.897+1238T>G,\N,\N,9/46,Benign,\N,intron_variant,0.082,0.9097,1KG_EAS_AF,OTOF
430394,2:26716593:C>T,NM_194248.2:c.897+1217G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.192,0.002,1KG_EAS_AF,OTOF
430395,2:26716594:G>A,NM_194248.2:c.897+1216C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.232,\N,\N,OTOF
430396,2:26716597:A>T,NM_194248.2:c.897+1213T>A,\N,\N,9/46,Benign,\N,intron_variant,0.559,0.1362,1KG_AFR_AF,OTOF
430397,2:26716624:G>A,NM_194248.2:c.897+1186C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.729,\N,\N,OTOF
430398,2:26716640:A>C,NM_194248.2:c.897+1170T>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.369,\N,\N,OTOF
430399,2:26716655:C>T,NM_194248.2:c.897+1155G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,3.661,\N,\N,OTOF
430400,2:26716661:C>T,NM_194248.2:c.897+1149G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.746,0.0015,1KG_AFR_AF,OTOF
430401,2:26716664:C>T,NM_194248.2:c.897+1146G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.722,0.0023,1KG_AFR_AF,OTOF
430402,2:26716665:G>A,NM_194248.2:c.897+1145C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.906,0.0014,1KG_AMR_AF,OTOF
430403,2:26716691:G>A,NM_194248.2:c.897+1119C>T,\N,\N,9/46,Benign,\N,intron_variant,1.21,0.9097,1KG_EAS_AF,OTOF
430404,2:26716703:G>A,NM_194248.2:c.897+1107C>T,\N,\N,9/46,Benign,\N,intron_variant,1.365,0.0091,1KG_AFR_AF,OTOF
430405,2:26716718:G>T,NM_194248.2:c.897+1092C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.518,\N,\N,OTOF
430406,2:26716726:C>T,NM_194248.2:c.897+1084G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.635,\N,\N,OTOF
430407,2:26716755:C>T,NM_194248.2:c.897+1055G>A,\N,\N,9/46,Benign,\N,intron_variant,4.199,0.0726,1KG_AFR_AF,OTOF
430408,2:26716759:AG>A,NM_194248.2:c.897+1050del,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430409,2:26716765:G>T,NM_194248.2:c.897+1045C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.904,\N,\N,OTOF
430410,2:26716779:C>T,NM_194248.2:c.897+1031G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.539,0.0031,1KG_SAS_AF,OTOF
430411,2:26716789:T>C,NM_194248.2:c.897+1021A>G,\N,\N,9/46,Benign,\N,intron_variant,0.427,0.0431,1KG_AFR_AF,OTOF
430412,2:26716795:A>T,NM_194248.2:c.897+1015T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.2,\N,\N,OTOF
430413,2:26716814:C>CT,NM_194248.2:c.897+995dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430414,2:26716817:T>C,NM_194248.2:c.897+993A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.056,0.002,1KG_SAS_AF,OTOF
430415,2:26716819:G>A,NM_194248.2:c.897+991C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.087,0.001,1KG_EUR_AF,OTOF
430416,2:26716845:C>A,NM_194248.2:c.897+965G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.908,\N,\N,OTOF
430417,2:26716855:T>C,NM_194248.2:c.897+955A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.065,0.001,1KG_SAS_AF,OTOF
430418,2:26716892:C>T,NM_194248.2:c.897+918G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.651,0.0038,1KG_AFR_AF,OTOF
430419,2:26716896:A>T,NM_194248.2:c.897+914T>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.615,0.0014,1KG_AMR_AF,OTOF
430420,2:26716904:T>C,NM_194248.2:c.897+906A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,6.205,\N,\N,OTOF
430421,2:26716908:G>GA,NM_194248.2:c.897+901dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430422,2:26716936:C>G,NM_194248.2:c.897+874G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,9.138,0.0014,1KG_AMR_AF,OTOF
430423,2:26716942:G>A,NM_194248.2:c.897+868C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,8.038,\N,\N,OTOF
430424,2:26717009:T>C,NM_194248.2:c.897+801A>G,\N,\N,9/46,Benign,\N,intron_variant,10.67,0.0303,1KG_AMR_AF,OTOF
430425,2:26717057:C>T,NM_194248.2:c.897+753G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.381,\N,\N,OTOF
430426,2:26717059:C>T,NM_194248.2:c.897+751G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,3.77,\N,\N,OTOF
430427,2:26717099:G>T,NM_194248.2:c.897+711C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.527,0.0023,1KG_AFR_AF,OTOF
430428,2:26717121:G>A,NM_194248.2:c.897+689C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,4.565,\N,\N,OTOF
430429,2:26717187:A>G,NM_194248.2:c.897+623T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.231,\N,\N,OTOF
430430,2:26717214:C>T,NM_194248.2:c.897+596G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,2.462,\N,\N,OTOF
430431,2:26717216:C>T,NM_194248.2:c.897+594G>A,\N,\N,9/46,Benign,\N,intron_variant,5.371,0.0556,1KG_EAS_AF,OTOF
430432,2:26717217:G>A,NM_194248.2:c.897+593C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.758,0.0038,1KG_AFR_AF,OTOF
430433,2:26717244:C>A,NM_194248.2:c.897+566G>T,\N,\N,9/46,Benign,\N,intron_variant,5.166,0.8879,1KG_EAS_AF,OTOF
430434,2:26717245:C>T,NM_194248.2:c.897+565G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,0.748,\N,\N,OTOF
430435,2:26717286:T>C,NM_194248.2:c.897+524A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,3.018,\N,\N,OTOF
430436,2:26717296:G>A,NM_194248.2:c.897+514C>T,\N,\N,9/46,Benign,\N,intron_variant,0.252,0.1278,1KG_AFR_AF,OTOF
430437,2:26717329:C>T,NM_194248.2:c.897+481G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.081,\N,\N,OTOF
430438,2:26717333:G>A,NM_194248.2:c.897+477C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.622,0.0023,1KG_AFR_AF,OTOF
430439,2:26717336:C>T,NM_194248.2:c.897+474G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.876,0.0015,1KG_AFR_AF,OTOF
430440,2:26717351:G>A,NM_194248.2:c.897+459C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,0.731,\N,\N,OTOF
430441,2:26717373:A>G,NM_194248.2:c.897+437T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,3.151,\N,\N,OTOF
430442,2:26717378:C>T,NM_194248.2:c.897+432G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.306,\N,\N,OTOF
430443,2:26717401:A>G,NM_194248.2:c.897+409T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,1.437,0.001,1KG_EUR_AF,OTOF
430444,2:26717402:T>C,NM_194248.2:c.897+408A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.749,0.001,1KG_EAS_AF,OTOF
430445,2:26717519:T>TG,NM_194248.2:c.897+290dup,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430446,2:26717524:T>TG,NM_194248.2:c.897+285dup,\N,\N,9/46,Benign,\N,intron_variant,0.67,0.5234,1KG_AFR_AF,OTOF
430447,2:26717527:G>C,NM_194248.2:c.897+283C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.392,\N,\N,OTOF
430448,2:26717527:G>GC,NM_194248.2:c.897+282_897+283insG,\N,\N,9/46,Unknown significance,\N,intron_variant,0.761,\N,\N,OTOF
430449,2:26717530:G>GGT,NM_194248.2:c.897+279_897+280insAC,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430450,2:26717531:G>GT,NM_194248.2:c.897+278_897+279insA,\N,\N,9/46,Unknown significance,\N,intron_variant,0.626,\N,\N,OTOF
430451,2:26717545:G>T,NM_194248.2:c.897+265C>A,\N,\N,9/46,Unknown significance,\N,intron_variant,4.072,0.0023,1KG_AFR_AF,OTOF
430452,2:26717555:G>C,NM_194248.2:c.897+255C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,1.442,\N,\N,OTOF
430453,2:26717573:C>T,NM_194248.2:c.897+237G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.476,0.001,1KG_EUR_AF,OTOF
430454,2:26717574:G>C,NM_194248.2:c.897+236C>G,\N,\N,9/46,Unknown significance,\N,intron_variant,0.113,\N,\N,OTOF
430455,2:26717585:G>A,NM_194248.2:c.897+225C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,1.816,\N,\N,OTOF
430456,2:26717596:C>G,NM_194248.2:c.897+214G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,5.794,\N,\N,OTOF
430457,2:26717596:C>T,NM_194248.2:c.897+214G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,6.628,\N,\N,OTOF
430458,2:26717598:GT>G,NM_194248.2:c.897+211del,\N,\N,9/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430459,2:26717603:G>A,NM_194248.2:c.897+207C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.494,0.0014,1KG_AMR_AF,OTOF
430460,2:26717605:C>T,NM_194248.2:c.897+205G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,1.565,\N,\N,OTOF
430461,2:26717608:G>A,NM_194248.2:c.897+202C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,5.389,0.001,1KG_EUR_AF,OTOF
430462,2:26717637:CAGA>C,NM_194248.2:c.897+170_897+172del,\N,\N,9/46,Unknown significance,\N,intron_variant,6.743,\N,\N,OTOF
430463,2:26717641:A>G,NM_194248.2:c.897+169T>C,\N,\N,9/46,Benign,\N,intron_variant,5.156,0.9107,1KG_EAS_AF,OTOF
430464,2:26717648:G>T,NM_194248.2:c.897+162C>A,\N,\N,9/46,Benign,\N,intron_variant,2.049,0.0101,1KG_AMR_AF,OTOF
430465,2:26717672:G>A,NM_194248.2:c.897+138C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.227,0.001,1KG_EUR_AF,OTOF
430466,2:26717683:G>A,NM_194248.2:c.897+127C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.474,0.0008,1KG_AFR_AF,OTOF
430467,2:26717734:C>T,NM_194248.2:c.897+76G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,5.254,0.001,1KG_EUR_AF,OTOF
430468,2:26717745:G>A,NM_194248.2:c.897+65C>T,\N,\N,9/46,Unknown significance,\N,intron_variant,3.793,\N,\N,OTOF
430469,2:26717763:C>T,NM_194248.2:c.897+47G>A,\N,\N,9/46,Unknown significance,\N,intron_variant,7.504,0.0000605767,EXAC_SAS_AF,OTOF
430470,2:26717765:T>C,NM_194248.2:c.897+45A>G,\N,\N,9/46,Unknown significance,\N,intron_variant,6.403,\N,\N,OTOF
430471,2:26717779:C>A,NM_194248.2:c.897+31G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,2.011,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430472,2:26717782:A>G,NM_194248.2:c.897+28T>C,\N,\N,9/46,Unknown significance,\N,intron_variant,4.478,0.000116279,EVS_EA_AF,OTOF
430473,2:26717787:C>G,NM_194248.2:c.897+23G>C,\N,\N,9/46,Unknown significance,\N,intron_variant,5.53,0.0000961723,EXAC_AFR_AF,OTOF
430474,2:26717792:C>A,NM_194248.2:c.897+18G>T,\N,\N,9/46,Unknown significance,\N,intron_variant,8.593,0.0014683,EXAC_AMR_AF,OTOF
430475,2:26717804:A>G,NM_194248.2:c.897+6T>C,\N,\N,9/46,Unknown significance,\N,splice_region_variant&intron_variant,12.7,0.001,1KG_SAS_AF,OTOF
430476,2:26717805:C>T,NM_194248.2:c.897+5G>A,\N,\N,9/46,Pathogenic,Auditory neuropathy,splice_region_variant&intron_variant,19.15,\N,\N,OTOF
430477,2:26717809:C>A,NM_194248.2:c.897+1G>T,\N,\N,9/46,Likely pathogenic,Deafness| autosomal recessive 9,splice_donor_variant,28.4,0.000151194,EXAC_FIN_AF,OTOF
430478,2:26717813:G>A,NM_194248.2:c.894C>T,NP_919224.1:p.Asn298=,9/47,\N,Unknown significance,\N,synonymous_variant,10.36,0.000907853,EVS_AA_AF,OTOF
430479,2:26717814:T>C,NM_194248.2:c.893A>G,NP_919224.1:p.Asn298Ser,9/47,\N,Unknown significance,\N,missense_variant,25.4,0.0000960984,EXAC_AFR_AF,OTOF
430480,2:26717821:AG>A,NM_194248.2:c.885del,NP_919224.1:p.Tyr296IlefsTer26,9/47,\N,Unknown significance,\N,frameshift_variant,30,0.0000149853,EXAC_NFE_AF,OTOF
430481,2:26717825:G>T,NM_194248.2:c.882C>A,NP_919224.1:p.Cys294Ter,9/47,\N,Unknown significance,\N,stop_gained,39,\N,\N,OTOF
430482,2:26717828:G>C,NM_194248.2:c.879C>G,NP_919224.1:p.Asn293Lys,9/47,\N,Unknown significance,\N,missense_variant,32,0.0000149844,EXAC_NFE_AF,OTOF
430483,2:26717836:A>T,NM_194248.2:c.871T>A,NP_919224.1:p.Ser291Thr,9/47,\N,Unknown significance,\N,missense_variant,27.7,0.000115554,EXAC_EAS_AF,OTOF
430484,2:26717845:T>C,NM_194248.2:c.862A>G,NP_919224.1:p.Met288Val,9/47,\N,Unknown significance,\N,missense_variant,8.759,0.000121124,EXAC_SAS_AF,OTOF
430485,2:26717858:C>A,NM_194248.2:c.849G>T,NP_919224.1:p.Lys283Asn,9/47,\N,Unknown significance,\N,missense_variant,29.7,0.0000149858,EXAC_NFE_AF,OTOF
430486,2:26717863:C>T,NM_194248.2:c.844G>A,NP_919224.1:p.Asp282Asn,9/47,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,OTOF
430487,2:26717864:G>A,NM_194248.2:c.843C>T,NP_919224.1:p.Asp281=,9/47,\N,Unknown significance,\N,synonymous_variant,10.51,0.00068089,EVS_AA_AF,OTOF
430488,2:26717867:A>T,NM_194248.2:c.840T>A,NP_919224.1:p.Gly280=,9/47,\N,Unknown significance,\N,synonymous_variant,0.416,0.000226963,EVS_AA_AF,OTOF
430489,2:26717867:A>C,NM_194248.2:c.840T>G,NP_919224.1:p.Gly280=,9/47,\N,Benign,\N,synonymous_variant,0.372,0.015,OTO_TR_AF,OTOF
430490,2:26717871:A>C,NM_194248.2:c.836T>G,NP_919224.1:p.Val279Gly,9/47,\N,Benign,\N,missense_variant,28.8,0.02,OTO_TR_AF,OTOF
430491,2:26717872:C>T,NM_194248.2:c.835G>A,NP_919224.1:p.Val279Met,9/47,\N,Unknown significance,\N,missense_variant,31,0.0000149858,EXAC_NFE_AF,OTOF
430492,2:26717878:C>T,NM_194248.2:c.829G>A,NP_919224.1:p.Val277Met,9/47,\N,Unknown significance,\N,missense_variant,33,0.001,1KG_EAS_AF,OTOF
430493,2:26717879:G>T,NM_194248.2:c.828C>A,NP_919224.1:p.Cys276Ter,9/47,\N,Likely pathogenic,Deafness| autosomal recessive 9,stop_gained,34,\N,\N,OTOF
430494,2:26717879:G>A,NM_194248.2:c.828C>T,NP_919224.1:p.Cys276=,9/47,\N,Unknown significance,\N,synonymous_variant,12.25,0.000226963,EVS_AA_AF,OTOF
430495,2:26717881:A>G,NM_194248.2:c.826T>C,NP_919224.1:p.Cys276Arg,9/47,\N,Unknown significance,\N,missense_variant,26.7,0.0000149867,EXAC_NFE_AF,OTOF
430496,2:26717887:C>T,NM_001287489.1:c.820G>A,NP_001274418.1:p.Val274Met,9/46,\N,Unknown significance,\N,missense_variant,23.5,0.0000149876,EXAC_NFE_AF,OTOF
430497,2:26717891:G>A,NM_194248.2:c.816C>T,NP_919224.1:p.Asp272=,9/47,\N,Unknown significance,\N,synonymous_variant,9.636,0.0000149876,EXAC_NFE_AF,OTOF
430498,2:26717892:T>C,NM_194248.2:c.815A>G,NP_919224.1:p.Asp272Gly,9/47,\N,Unknown significance,\N,missense_variant,28.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430499,2:26717894:C>T,NM_194248.2:c.813G>A,NP_919224.1:p.Met271Ile,9/47,\N,Unknown significance,\N,missense_variant,17.68,0.000116279,EVS_EA_AF,OTOF
430500,2:26717896:T>A,NM_194248.2:c.811A>T,NP_919224.1:p.Met271Leu,9/47,\N,Unknown significance,\N,missense_variant,22.5,0.0000149885,EXAC_NFE_AF,OTOF
430501,2:26717896:T>C,NM_194248.2:c.811A>G,NP_919224.1:p.Met271Val,9/47,\N,Unknown significance,\N,missense_variant,21.8,0.00011558,EXAC_EAS_AF,OTOF
430502,2:26717903:GCCCA>G,NM_194248.2:c.800_803del,NP_919224.1:p.Val267AlafsTer2,9/47,\N,Unknown significance,\N,frameshift_variant,35,0.0000149898,EXAC_NFE_AF,OTOF
430503,2:26717907:A>C,NM_194248.2:c.800T>G,NP_919224.1:p.Val267Gly,9/47,\N,Benign,\N,missense_variant,28.7,0.01,OTO_TR_AF,OTOF
430504,2:26717908:C>T,NM_194248.2:c.799G>A,NP_919224.1:p.Val267Met,9/47,\N,Unknown significance,\N,missense_variant,31,0.000060562,EXAC_SAS_AF,OTOF
430505,2:26717909:C>T,NM_194248.2:c.798G>A,NP_919224.1:p.Leu266=,9/47,\N,Unknown significance,\N,synonymous_variant,13.33,0.000484496,EXAC_SAS_AF,OTOF
430506,2:26717912:C>A,NM_194248.2:c.795G>T,NP_919224.1:p.Gln265His,9/47,\N,Unknown significance,\N,missense_variant,32,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430507,2:26717916:C>T,NM_194248.2:c.791G>A,NP_919224.1:p.Arg264Gln,9/47,\N,Unknown significance,\N,missense_variant,31,0.000232558,EVS_EA_AF,OTOF
430508,2:26717917:G>A,NM_194248.2:c.790C>T,NP_919224.1:p.Arg264Trp,9/47,\N,Unknown significance,\N,missense_variant,35,0.000242248,EXAC_SAS_AF,OTOF
430509,2:26717917:G>T,NM_194248.2:c.790C>A,NP_919224.1:p.Arg264=,9/47,\N,Unknown significance,\N,synonymous_variant,13.9,0.000172831,EXAC_AMR_AF,OTOF
430510,2:26717924:G>A,NM_194248.2:c.783C>T,NP_919224.1:p.Ile261=,9/47,\N,Unknown significance,\N,synonymous_variant,14.69,0.0031,1KG_SAS_AF,OTOF
430511,2:26717924:G>C,NM_194248.2:c.783C>G,NP_919224.1:p.Ile261Met,9/47,\N,Unknown significance,\N,missense_variant,24.7,0.0000963948,EXAC_AFR_AF,OTOF
430512,2:26717927:C>T,NM_194248.2:c.780G>A,NP_919224.1:p.Val260=,9/47,\N,Unknown significance,\N,synonymous_variant,12.91,0.000226963,EVS_AA_AF,OTOF
430513,2:26717928:A>G,NM_194248.2:c.779T>C,NP_919224.1:p.Val260Ala,9/47,\N,Unknown significance,\N,missense_variant,27.4,0.000060562,EXAC_SAS_AF,OTOF
430514,2:26717931:G>A,NM_194248.2:c.776C>T,NP_919224.1:p.Thr259Met,9/47,\N,Unknown significance,\N,missense_variant,24.5,0.00133253,EXAC_SAS_AF,OTOF
430515,2:26717943:T>C,NM_194248.2:c.766-2A>G,\N,\N,8/46,Pathogenic,Deafness| autosomal recessive 9; DEAFNESS| AUTOSOMAL RECESSIVE 9; OTOF-Related Deafness,splice_acceptor_variant,24.5,\N,\N,OTOF
430516,2:26717944:G>A,NM_194248.2:c.766-3C>T,\N,\N,8/46,Benign,\N,splice_region_variant&intron_variant,8.238,0.0557412,EXAC_FIN_AF,OTOF
430517,2:26717947:G>GGTCCT,NM_194248.2:c.766-7_766-6insAGGAC,\N,\N,8/46,Unknown significance,\N,splice_region_variant&intron_variant,9.683,\N,\N,OTOF
430518,2:26717952:G>GTCCTGC,NM_194248.2:c.766-12_766-11insGCAGGA,\N,\N,8/46,Unknown significance,\N,intron_variant,11.38,0.0000150476,EXAC_NFE_AF,OTOF
430519,2:26717953:A>AGGCCT,NM_194248.2:c.766-13_766-12insAGGCC,\N,\N,8/46,Unknown significance,\N,intron_variant,9.818,\N,\N,OTOF
430520,2:26717955:A>ATGCTCCTGC,NM_194248.2:c.766-15_766-14insGCAGGAGCA,\N,\N,8/46,Unknown significance,\N,intron_variant,5.994,0.0000150516,EXAC_NFE_AF,OTOF
430521,2:26717957:G>A,NM_194248.2:c.766-16C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,9.638,0.0000150584,EXAC_NFE_AF,OTOF
430522,2:26717960:GGAGCCAGAAGGAAAGCTGCCT>G,NM_194248.2:c.766-40_766-20del,\N,\N,8/46,Unknown significance,\N,intron_variant,5.351,\N,\N,OTOF
430523,2:26717961:G>A,NM_194248.2:c.766-20C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.105,0.0000150675,EXAC_NFE_AF,OTOF
430524,2:26717966:A>T,NM_194248.2:c.766-25T>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.278,0.0000973331,EXAC_AFR_AF,OTOF
430525,2:26717968:A>G,NM_194248.2:c.766-27T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.756,0.0000606281,EXAC_SAS_AF,OTOF
430526,2:26717971:G>A,NM_194248.2:c.766-30C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,7.912,0.001,1KG_EAS_AF,OTOF
430527,2:26717976:C>T,NM_194248.2:c.766-35G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,7.097,\N,\N,OTOF
430528,2:26717985:C>T,NM_194248.2:c.766-44G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.396,0.000233046,EXAC_EAS_AF,OTOF
430529,2:26717986:C>T,NM_194248.2:c.766-45G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.589,0.000226963,EVS_AA_AF,OTOF
430530,2:26718001:C>A,NM_194248.2:c.766-60G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.827,\N,\N,OTOF
430531,2:26718001:C>T,NM_194248.2:c.766-60G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.878,0.0008,1KG_AFR_AF,OTOF
430532,2:26718014:G>A,NM_194248.2:c.766-73C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,7.78,0.0023,1KG_AFR_AF,OTOF
430533,2:26718014:G>T,NM_194248.2:c.766-73C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.612,\N,\N,OTOF
430534,2:26718036:G>A,NM_194248.2:c.766-95C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.791,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
430535,2:26718083:A>G,NM_194248.2:c.766-142T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,7.478,0.0023,1KG_AFR_AF,OTOF
430536,2:26718116:T>C,NM_194248.2:c.766-175A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.055,0.001,1KG_SAS_AF,OTOF
430537,2:26718132:CA>C,NM_194248.2:c.766-192del,\N,\N,8/46,Benign,\N,intron_variant,2.67,0.0643,1KG_AFR_AF,OTOF
430538,2:26718148:T>C,NM_194248.2:c.766-207A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.305,0.001,1KG_SAS_AF,OTOF
430539,2:26718155:G>A,NM_194248.2:c.766-214C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.518,\N,\N,OTOF
430540,2:26718165:G>T,NM_194248.2:c.766-224C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.334,0.001,1KG_EAS_AF,OTOF
430541,2:26718179:C>T,NM_194248.2:c.766-238G>A,\N,\N,8/46,Benign,\N,intron_variant,5.371,0.3956,1KG_EUR_AF,OTOF
430542,2:26718209:G>A,NM_194248.2:c.766-268C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.471,0.0008,1KG_AFR_AF,OTOF
430543,2:26718222:G>A,NM_194248.2:c.766-281C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.675,0.0008,1KG_AFR_AF,OTOF
430544,2:26718239:T>C,NM_194248.2:c.766-298A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.125,0.0014,1KG_AMR_AF,OTOF
430545,2:26718250:C>T,NM_194248.2:c.766-309G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,9.383,\N,\N,OTOF
430546,2:26718254:C>T,NM_194248.2:c.766-313G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,10.83,\N,\N,OTOF
430547,2:26718305:A>AT,NM_194248.2:c.766-365dup,\N,\N,8/46,Benign,\N,intron_variant,0.155,0.008,1KG_EUR_AF,OTOF
430548,2:26718317:G>A,NM_194248.2:c.766-376C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.409,\N,\N,OTOF
430549,2:26718353:C>A,NM_194248.2:c.766-412G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.091,\N,\N,OTOF
430550,2:26718370:G>A,NM_194248.2:c.766-429C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.319,0.001,1KG_SAS_AF,OTOF
430551,2:26718391:T>C,NM_194248.2:c.766-450A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,6.871,\N,\N,OTOF
430552,2:26718421:G>A,NM_194248.2:c.766-480C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,8.074,0.0029,1KG_AMR_AF,OTOF
430553,2:26718449:A>C,NM_194248.2:c.766-508T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.704,0.0014,1KG_AMR_AF,OTOF
430554,2:26718454:G>A,NM_194248.2:c.766-513C>T,\N,\N,8/46,Benign,\N,intron_variant,1.688,0.0069,1KG_EAS_AF,OTOF
430555,2:26718491:G>A,NM_194248.2:c.766-550C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,7.081,\N,\N,OTOF
430556,2:26718521:C>T,NM_194248.2:c.766-580G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,7.585,\N,\N,OTOF
430557,2:26718530:G>A,NM_194248.2:c.766-589C>T,\N,\N,8/46,Benign,\N,intron_variant,10.24,0.028,1KG_AFR_AF,OTOF
430558,2:26718531:T>A,NM_194248.2:c.766-590A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,11.92,0.0031,1KG_SAS_AF,OTOF
430559,2:26718538:T>A,NM_194248.2:c.766-597A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,8.678,\N,\N,OTOF
430560,2:26718545:C>T,NM_194248.2:c.766-604G>A,\N,\N,8/46,Benign,\N,intron_variant,5.153,0.028,1KG_AFR_AF,OTOF
430561,2:26718559:G>A,NM_194248.2:c.766-618C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.38,0.0014,1KG_AMR_AF,OTOF
430562,2:26718566:T>A,NM_194248.2:c.766-625A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,5.873,\N,\N,OTOF
430563,2:26718576:G>A,NM_194248.2:c.766-635C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.029,\N,\N,OTOF
430564,2:26718583:C>T,NM_194248.2:c.766-642G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.455,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
430565,2:26718584:G>A,NM_194248.2:c.766-643C>T,\N,\N,8/46,Benign,\N,intron_variant,5.145,0.0083,1KG_AFR_AF,OTOF
430566,2:26718588:C>G,NM_194248.2:c.766-647G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.485,\N,\N,OTOF
430567,2:26718593:C>T,NM_194248.2:c.766-652G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.712,\N,\N,OTOF
430568,2:26718595:G>A,NM_194248.2:c.766-654C>T,\N,\N,8/46,Benign,\N,intron_variant,1.807,0.3966,1KG_EUR_AF,OTOF
430569,2:26718640:G>A,NM_194248.2:c.766-699C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.042,0.001,1KG_EAS_AF,OTOF
430570,2:26718648:C>T,NM_194248.2:c.766-707G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.551,0.001,1KG_EUR_AF,OTOF
430571,2:26718653:G>A,NM_194248.2:c.766-712C>T,\N,\N,8/46,Benign,\N,intron_variant,4.119,0.0212,1KG_AFR_AF,OTOF
430572,2:26718664:T>C,NM_194248.2:c.766-723A>G,\N,\N,8/46,Benign,\N,intron_variant,2.072,0.0121,1KG_AFR_AF,OTOF
430573,2:26718677:G>A,NM_194248.2:c.766-736C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.699,\N,\N,OTOF
430574,2:26718684:A>G,NM_194248.2:c.766-743T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.943,0.0015,1KG_AFR_AF,OTOF
430575,2:26718688:C>T,NM_194248.2:c.766-747G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,6.979,0.0015,1KG_AFR_AF,OTOF
430576,2:26718716:T>C,NM_194248.2:c.766-775A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.319,\N,\N,OTOF
430577,2:26718725:C>A,NM_194248.2:c.766-784G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,8.429,\N,\N,OTOF
430578,2:26718758:C>A,NM_194248.2:c.766-817G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,11.56,0.001,1KG_EUR_AF,OTOF
430579,2:26718773:T>C,NM_194248.2:c.766-832A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,5.425,\N,\N,OTOF
430580,2:26718796:C>A,NM_194248.2:c.766-855G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.386,\N,\N,OTOF
430581,2:26718801:T>C,NM_194248.2:c.766-860A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.445,\N,\N,OTOF
430582,2:26718821:TC>T,NM_194248.2:c.766-881del,\N,\N,8/46,Unknown significance,\N,intron_variant,0.774,\N,\N,OTOF
430583,2:26718826:C>A,NM_194248.2:c.766-885G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,5.142,0.0041,1KG_SAS_AF,OTOF
430584,2:26718826:C>G,NM_194248.2:c.766-885G>C,\N,\N,8/46,Benign,\N,intron_variant,2.662,0.028,1KG_AFR_AF,OTOF
430585,2:26718826:C>T,NM_194248.2:c.766-885G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.904,\N,\N,OTOF
430586,2:26718827:C>A,NM_194248.2:c.766-886G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,5.122,0.0014,1KG_AMR_AF,OTOF
430587,2:26718827:C>G,NM_194248.2:c.766-886G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.644,\N,\N,OTOF
430588,2:26718827:C>T,NM_194248.2:c.766-886G>A,\N,\N,8/46,Benign,\N,intron_variant,4.884,0.0212,1KG_AFR_AF,OTOF
430589,2:26718828:C>A,NM_194248.2:c.766-887G>T,\N,\N,8/46,Benign,\N,intron_variant,7.312,0.5613,1KG_AFR_AF,OTOF
430590,2:26718828:C>G,NM_194248.2:c.766-887G>C,\N,\N,8/46,Benign,\N,intron_variant,4.721,0.0257,1KG_AFR_AF,OTOF
430591,2:26718829:CT>C,NM_194248.2:c.766-889del,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430592,2:26718925:T>G,NM_194248.2:c.766-984A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.767,0.001,1KG_SAS_AF,OTOF
430593,2:26718935:G>A,NM_194248.2:c.766-994C>T,\N,\N,8/46,Benign,\N,intron_variant,1.372,0.562,1KG_AFR_AF,OTOF
430594,2:26718967:A>T,NM_194248.2:c.766-1026T>A,\N,\N,8/46,Benign,\N,intron_variant,1.497,0.0212,1KG_AFR_AF,OTOF
430595,2:26719014:A>G,NM_194248.2:c.766-1073T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,3.189,\N,\N,OTOF
430596,2:26719084:C>T,NM_194248.2:c.766-1143G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.532,0.001,1KG_EUR_AF,OTOF
430597,2:26719105:C>CT,NM_194248.2:c.766-1165dup,\N,\N,8/46,Unknown significance,\N,intron_variant,7.024,\N,\N,OTOF
430598,2:26719105:C>CTTT,NM_194248.2:c.766-1167_766-1165dup,\N,\N,8/46,Benign,\N,intron_variant,6.737,0.5076,1KG_AFR_AF,OTOF
430599,2:26719132:C>G,NM_194248.2:c.766-1191G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.032,0.001,1KG_EAS_AF,OTOF
430600,2:26719142:C>T,NM_194248.2:c.766-1201G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.594,0.004,1KG_EUR_AF,OTOF
430601,2:26719150:T>C,NM_194248.2:c.766-1209A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,3.506,\N,\N,OTOF
430602,2:26719201:C>T,NM_194248.2:c.766-1260G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.749,\N,\N,OTOF
430603,2:26719205:C>T,NM_194248.2:c.766-1264G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.317,\N,\N,OTOF
430604,2:26719208:T>C,NM_194248.2:c.766-1267A>G,\N,\N,8/46,Benign,\N,intron_variant,1.011,0.0083,1KG_AFR_AF,OTOF
430605,2:26719210:C>T,NM_194248.2:c.766-1269G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.533,\N,\N,OTOF
430606,2:26719217:C>T,NM_194248.2:c.766-1276G>A,\N,\N,8/46,Benign,\N,intron_variant,1.922,0.2428,1KG_AFR_AF,OTOF
430607,2:26719260:G>A,NM_194248.2:c.766-1319C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.83,0.001,1KG_SAS_AF,OTOF
430608,2:26719263:C>T,NM_194248.2:c.766-1322G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.023,0.0014,1KG_AMR_AF,OTOF
430609,2:26719264:G>A,NM_194248.2:c.766-1323C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.197,\N,\N,OTOF
430610,2:26719277:A>AT,NM_194248.2:c.766-1337dup,\N,\N,8/46,Benign,\N,intron_variant,1.939,0.2352,1KG_AFR_AF,OTOF
430611,2:26719298:G>C,NM_194248.2:c.766-1357C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.868,\N,\N,OTOF
430612,2:26719313:G>A,NM_194248.2:c.766-1372C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,10.87,\N,\N,OTOF
430613,2:26719336:G>A,NM_194248.2:c.766-1395C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,9.74,\N,\N,OTOF
430614,2:26719349:C>T,NM_194248.2:c.766-1408G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,7.103,0.001,1KG_EAS_AF,OTOF
430615,2:26719403:C>T,NM_194248.2:c.766-1462G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.985,\N,\N,OTOF
430616,2:26719437:T>C,NM_194248.2:c.766-1496A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.042,0.001,1KG_EUR_AF,OTOF
430617,2:26719455:CAG>C,NM_194248.2:c.766-1516_766-1515del,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430618,2:26719458:A>G,NM_194248.2:c.766-1517T>C,\N,\N,8/46,Benign,\N,intron_variant,1.947,0.028,1KG_AFR_AF,OTOF
430619,2:26719481:G>T,NM_194248.2:c.766-1540C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.399,0.001,1KG_EUR_AF,OTOF
430620,2:26719492:C>T,NM_194248.2:c.766-1551G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.721,\N,\N,OTOF
430621,2:26719511:G>A,NM_194248.2:c.766-1570C>T,\N,\N,8/46,Benign,\N,intron_variant,1.324,0.0356,1KG_AFR_AF,OTOF
430622,2:26719515:C>T,NM_194248.2:c.766-1574G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.081,\N,\N,OTOF
430623,2:26719537:T>G,NM_194248.2:c.766-1596A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.786,0.001,1KG_SAS_AF,OTOF
430624,2:26719572:T>A,NM_194248.2:c.766-1631A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,6.75,0.001,1KG_EAS_AF,OTOF
430625,2:26719612:C>T,NM_194248.2:c.766-1671G>A,\N,\N,8/46,Benign,\N,intron_variant,8.52,0.4006,1KG_EUR_AF,OTOF
430626,2:26719646:T>C,NM_194248.2:c.766-1705A>G,\N,\N,8/46,Benign,\N,intron_variant,3.208,0.005,1KG_EUR_AF,OTOF
430627,2:26719654:G>A,NM_194248.2:c.766-1713C>T,\N,\N,8/46,Benign,\N,intron_variant,1.841,0.0779,1KG_AFR_AF,OTOF
430628,2:26719660:G>A,NM_194248.2:c.766-1719C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.597,\N,\N,OTOF
430629,2:26719727:T>C,NM_194248.2:c.766-1786A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.569,\N,\N,OTOF
430630,2:26719746:T>C,NM_194248.2:c.766-1805A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,8.277,0.001,1KG_EUR_AF,OTOF
430631,2:26719769:C>T,NM_194248.2:c.766-1828G>A,\N,\N,8/46,Benign,\N,intron_variant,3.078,0.1181,1KG_EAS_AF,OTOF
430632,2:26719824:G>A,NM_194248.2:c.766-1883C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.798,\N,\N,OTOF
430633,2:26719825:C>T,NM_194248.2:c.766-1884G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.284,0.003,1KG_AFR_AF,OTOF
430634,2:26719826:G>A,NM_194248.2:c.766-1885C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.229,0.001,1KG_SAS_AF,OTOF
430635,2:26719853:G>A,NM_194248.2:c.766-1912C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.181,\N,\N,OTOF
430636,2:26719859:T>C,NM_194248.2:c.766-1918A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.824,\N,\N,OTOF
430637,2:26719861:C>T,NM_194248.2:c.766-1920G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.234,\N,\N,OTOF
430638,2:26719894:CG>C,NM_194248.2:c.766-1954del,\N,\N,8/46,Benign,\N,intron_variant,\N,0.006,1KG_EAS_AF,OTOF
430639,2:26719895:G>A,NM_194248.2:c.766-1954C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.762,0.001,1KG_EAS_AF,OTOF
430640,2:26719957:CTTTTTTTTTTTTTTT>C,NM_194248.2:c.766-2031_766-2017del,\N,\N,8/46,Unknown significance,\N,intron_variant,4.728,\N,\N,OTOF
430641,2:26719958:T>C,NM_194248.2:c.766-2017A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.426,\N,\N,OTOF
430642,2:26719982:T>G,NM_194248.2:c.766-2041A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,0.974,\N,\N,OTOF
430643,2:26719988:T>A,NM_194248.2:c.766-2047A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.624,\N,\N,OTOF
430644,2:26719988:T>G,NM_194248.2:c.766-2047A>C,\N,\N,8/46,Benign,\N,intron_variant,1.809,0.8116,1KG_AFR_AF,OTOF
430645,2:26720028:T>C,NM_194248.2:c.766-2087A>G,\N,\N,8/46,Benign,\N,intron_variant,8.796,0.0437,1KG_EUR_AF,OTOF
430646,2:26720033:C>T,NM_194248.2:c.766-2092G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.672,\N,\N,OTOF
430647,2:26720052:C>A,NM_194248.2:c.766-2111G>T,\N,\N,8/46,Benign,\N,intron_variant,6.263,0.5772,1KG_AFR_AF,OTOF
430648,2:26720055:C>T,NM_194248.2:c.766-2114G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.974,\N,\N,OTOF
430649,2:26720063:C>G,NM_194248.2:c.766-2122G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,0.004,\N,\N,OTOF
430650,2:26720091:C>T,NM_194248.2:c.766-2150G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.655,0.001,1KG_SAS_AF,OTOF
430651,2:26720095:C>T,NM_194248.2:c.766-2154G>A,\N,\N,8/46,Benign,\N,intron_variant,1.55,0.0109,1KG_EAS_AF,OTOF
430652,2:26720124:C>A,NM_194248.2:c.766-2183G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.364,0.0031,1KG_SAS_AF,OTOF
430653,2:26720128:A>G,NM_194248.2:c.766-2187T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.655,\N,\N,OTOF
430654,2:26720129:C>T,NM_194248.2:c.766-2188G>A,\N,\N,8/46,Benign,\N,intron_variant,0.458,0.0439,1KG_AFR_AF,OTOF
430655,2:26720130:G>A,NM_194248.2:c.766-2189C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.443,0.001,1KG_SAS_AF,OTOF
430656,2:26720155:G>A,NM_194248.2:c.766-2214C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.493,0.001,1KG_SAS_AF,OTOF
430657,2:26720177:C>T,NM_194248.2:c.766-2236G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.044,\N,\N,OTOF
430658,2:26720190:G>C,NM_194248.2:c.766-2249C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.152,0.001,1KG_EAS_AF,OTOF
430659,2:26720199:G>A,NM_194248.2:c.766-2258C>T,\N,\N,8/46,Benign,\N,intron_variant,1.051,0.0061,1KG_SAS_AF,OTOF
430660,2:26720218:T>C,NM_194248.2:c.766-2277A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.54,\N,\N,OTOF
430661,2:26720248:C>T,NM_194248.2:c.766-2307G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.063,0.0014,1KG_AMR_AF,OTOF
430662,2:26720252:T>A,NM_194248.2:c.766-2311A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.177,\N,\N,OTOF
430663,2:26720257:C>T,NM_194248.2:c.766-2316G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.688,\N,\N,OTOF
430664,2:26720259:G>A,NM_194248.2:c.766-2318C>T,\N,\N,8/46,Benign,\N,intron_variant,0.259,0.0666,1KG_AFR_AF,OTOF
430665,2:26720265:T>C,NM_194248.2:c.766-2324A>G,\N,\N,8/46,Benign,\N,intron_variant,3.473,0.0439,1KG_AFR_AF,OTOF
430666,2:26720288:T>A,NM_194248.2:c.766-2347A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.164,0.001,1KG_SAS_AF,OTOF
430667,2:26720302:T>A,NM_194248.2:c.766-2361A>T,\N,\N,8/46,Benign,\N,intron_variant,6.025,0.0654,1KG_SAS_AF,OTOF
430668,2:26720305:C>G,NM_194248.2:c.766-2364G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.954,0.001,1KG_EAS_AF,OTOF
430669,2:26720321:T>C,NM_194248.2:c.766-2380A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.553,\N,\N,OTOF
430670,2:26720343:A>AACT,NM_194248.2:c.766-2405_766-2403dup,\N,\N,8/46,Unknown significance,\N,intron_variant,3.906,\N,\N,OTOF
430671,2:26720355:C>T,NM_194248.2:c.766-2414G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.373,\N,\N,OTOF
430672,2:26720360:T>C,NM_194248.2:c.766-2419A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.761,0.001,1KG_SAS_AF,OTOF
430673,2:26720370:G>T,NM_194248.2:c.766-2429C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.894,\N,\N,OTOF
430674,2:26720417:T>C,NM_194248.2:c.766-2476A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,3.508,\N,\N,OTOF
430675,2:26720420:A>G,NM_194248.2:c.766-2479T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.411,\N,\N,OTOF
430676,2:26720434:T>C,NM_194248.2:c.766-2493A>G,\N,\N,8/46,Benign,\N,intron_variant,3.343,0.3956,1KG_EUR_AF,OTOF
430677,2:26720446:C>A,NM_194248.2:c.766-2505G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.648,\N,\N,OTOF
430678,2:26720452:G>A,NM_194248.2:c.766-2511C>T,\N,\N,8/46,Benign,\N,intron_variant,4.533,0.0086,1KG_AMR_AF,OTOF
430679,2:26720458:T>C,NM_194248.2:c.766-2517A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.766,0.0008,1KG_AFR_AF,OTOF
430680,2:26720469:A>C,NM_194248.2:c.766-2528T>G,\N,\N,8/46,Benign,\N,intron_variant,2.757,0.0099,1KG_EAS_AF,OTOF
430681,2:26720470:C>T,NM_194248.2:c.766-2529G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.518,\N,\N,OTOF
430682,2:26720507:A>G,NM_194248.2:c.766-2566T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.192,0.0014,1KG_AMR_AF,OTOF
430683,2:26720532:AG>A,NM_194248.2:c.766-2592del,\N,\N,8/46,Benign,\N,intron_variant,0.259,0.0398,1KG_EUR_AF,OTOF
430684,2:26720558:C>T,NM_194248.2:c.766-2617G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.312,\N,\N,OTOF
430685,2:26720559:T>C,NM_194248.2:c.766-2618A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.57,\N,\N,OTOF
430686,2:26720583:G>A,NM_194248.2:c.766-2642C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.808,0.0008,1KG_AFR_AF,OTOF
430687,2:26720591:C>T,NM_194248.2:c.766-2650G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.996,\N,\N,OTOF
430688,2:26720592:G>A,NM_194248.2:c.766-2651C>T,\N,\N,8/46,Benign,\N,intron_variant,1.896,0.0188,1KG_EAS_AF,OTOF
430689,2:26720600:A>C,NM_194248.2:c.766-2659T>G,\N,\N,8/46,Benign,\N,intron_variant,2.625,0.6982,1KG_AFR_AF,OTOF
430690,2:26720609:C>T,NM_194248.2:c.766-2668G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.94,0.0023,1KG_AFR_AF,OTOF
430691,2:26720610:G>A,NM_194248.2:c.766-2669C>T,\N,\N,8/46,Benign,\N,intron_variant,0.675,0.6974,1KG_AFR_AF,OTOF
430692,2:26720646:T>G,NM_194248.2:c.766-2705A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,3.594,0.001,1KG_EAS_AF,OTOF
430693,2:26720677:A>G,NM_194248.2:c.766-2736T>C,\N,\N,8/46,Benign,\N,intron_variant,5.453,0.0109,1KG_EAS_AF,OTOF
430694,2:26720733:C>T,NM_194248.2:c.766-2792G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.155,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
430695,2:26720734:G>A,NM_194248.2:c.766-2793C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.932,0.0008,1KG_AFR_AF,OTOF
430696,2:26720747:CCTT>C,NM_194248.2:c.766-2809_766-2807del,\N,\N,8/46,Benign,\N,intron_variant,10.81,0.2428,1KG_AFR_AF,OTOF
430697,2:26720753:T>G,NM_194248.2:c.766-2812A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,12.13,\N,\N,OTOF
430698,2:26720786:G>A,NM_194248.2:c.766-2845C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.686,\N,\N,OTOF
430699,2:26720791:CT>C,NM_194248.2:c.766-2851del,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430700,2:26720810:T>A,NM_194248.2:c.766-2869A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.983,\N,\N,OTOF
430701,2:26720843:C>A,NM_194248.2:c.766-2902G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.788,\N,\N,OTOF
430702,2:26720889:C>T,NM_194248.2:c.766-2948G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.892,\N,\N,OTOF
430703,2:26720890:G>A,NM_194248.2:c.766-2949C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.107,\N,\N,OTOF
430704,2:26720900:A>C,NM_194248.2:c.766-2959T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.265,\N,\N,OTOF
430705,2:26720915:C>T,NM_194248.2:c.766-2974G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.539,\N,\N,OTOF
430706,2:26720916:G>A,NM_194248.2:c.766-2975C>T,\N,\N,8/46,Benign,\N,intron_variant,0.52,0.0082,1KG_SAS_AF,OTOF
430707,2:26720934:A>G,NM_194248.2:c.766-2993T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.611,\N,\N,OTOF
430708,2:26720936:T>A,NM_194248.2:c.766-2995A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,6.971,\N,\N,OTOF
430709,2:26720950:C>T,NM_194248.2:c.766-3009G>A,\N,\N,8/46,Benign,\N,intron_variant,5.424,0.0204,1KG_AFR_AF,OTOF
430710,2:26720952:A>G,NM_194248.2:c.766-3011T>C,\N,\N,8/46,Benign,\N,intron_variant,3.752,0.0129,1KG_AFR_AF,OTOF
430711,2:26720961:G>A,NM_194248.2:c.766-3020C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.769,\N,\N,OTOF
430712,2:26720985:G>A,NM_194248.2:c.766-3044C>T,\N,\N,8/46,Benign,\N,intron_variant,0.242,0.0204,1KG_AFR_AF,OTOF
430713,2:26720996:A>G,NM_194248.2:c.766-3055T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.558,0.001,1KG_EAS_AF,OTOF
430714,2:26721005:G>C,NM_194248.2:c.766-3064C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.439,\N,\N,OTOF
430715,2:26721013:T>C,NM_194248.2:c.766-3072A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.877,0.0038,1KG_AFR_AF,OTOF
430716,2:26721017:T>C,NM_194248.2:c.766-3076A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.904,0.001,1KG_EUR_AF,OTOF
430717,2:26721018:GT>G,NM_194248.2:c.766-3078del,\N,\N,8/46,Unknown significance,\N,intron_variant,4.767,\N,\N,OTOF
430718,2:26721020:C>T,NM_194248.2:c.766-3079G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.178,\N,\N,OTOF
430719,2:26721041:G>A,NM_194248.2:c.766-3100C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.958,\N,\N,OTOF
430720,2:26721042:T>C,NM_194248.2:c.766-3101A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.063,\N,\N,OTOF
430721,2:26721063:C>T,NM_194248.2:c.766-3122G>A,\N,\N,8/46,Benign,\N,intron_variant,3.152,0.005,1KG_EUR_AF,OTOF
430722,2:26721111:C>T,NM_194248.2:c.766-3170G>A,\N,\N,8/46,Benign,\N,intron_variant,0.241,0.006,1KG_EAS_AF,OTOF
430723,2:26721112:G>A,NM_194248.2:c.766-3171C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.149,\N,\N,OTOF
430724,2:26721129:G>C,NM_194248.2:c.766-3188C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.148,0.0008,1KG_AFR_AF,OTOF
430725,2:26721134:C>T,NM_194248.2:c.766-3193G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,4.772,\N,\N,OTOF
430726,2:26721153:C>T,NM_194248.2:c.766-3212G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.133,\N,\N,OTOF
430727,2:26721166:A>G,NM_194248.2:c.766-3225T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,10.64,0.0015,1KG_AFR_AF,OTOF
430728,2:26721205:C>G,NM_194248.2:c.766-3264G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,0.273,0.003,1KG_EAS_AF,OTOF
430729,2:26721205:C>T,NM_194248.2:c.766-3264G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.658,0.0014,1KG_AMR_AF,OTOF
430730,2:26721215:C>T,NM_194248.2:c.766-3274G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.935,\N,\N,OTOF
430731,2:26721223:G>A,NM_194248.2:c.766-3282C>T,\N,\N,8/46,Benign,\N,intron_variant,2.539,0.1172,1KG_AFR_AF,OTOF
430732,2:26721241:G>C,NM_194248.2:c.766-3300C>G,\N,\N,8/46,Benign,\N,intron_variant,0.4,0.6974,1KG_AFR_AF,OTOF
430733,2:26721241:GGC>CGT,NM_194248.2:c.766-3302_766-3300delinsACG,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430734,2:26721243:C>T,NM_194248.2:c.766-3302G>A,\N,\N,8/46,Benign,\N,intron_variant,0.468,0.6974,1KG_AFR_AF,OTOF
430735,2:26721252:T>C,NM_194248.2:c.766-3311A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.063,\N,\N,OTOF
430736,2:26721261:G>A,NM_194248.2:c.766-3320C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.158,0.001,1KG_SAS_AF,OTOF
430737,2:26721289:C>T,NM_194248.2:c.765+3333G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.212,0.001,1KG_EAS_AF,OTOF
430738,2:26721321:C>T,NM_194248.2:c.765+3301G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.318,\N,\N,OTOF
430739,2:26721336:A>T,NM_194248.2:c.765+3286T>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.176,\N,\N,OTOF
430740,2:26721352:C>A,NM_194248.2:c.765+3270G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.123,\N,\N,OTOF
430741,2:26721356:C>T,NM_194248.2:c.765+3266G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.816,0.001,1KG_EAS_AF,OTOF
430742,2:26721396:C>A,NM_194248.2:c.765+3226G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.815,\N,\N,OTOF
430743,2:26721415:C>T,NM_194248.2:c.765+3207G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.782,\N,\N,OTOF
430744,2:26721444:C>A,NM_194248.2:c.765+3178G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.815,\N,\N,OTOF
430745,2:26721506:A>C,NM_194248.2:c.765+3116T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,5.376,0.0045,1KG_AFR_AF,OTOF
430746,2:26721510:G>T,NM_194248.2:c.765+3112C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.476,\N,\N,OTOF
430747,2:26721517:T>A,NM_194248.2:c.765+3105A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,6.209,\N,\N,OTOF
430748,2:26721519:C>T,NM_194248.2:c.765+3103G>A,\N,\N,8/46,Benign,\N,intron_variant,5.808,0.2436,1KG_AFR_AF,OTOF
430749,2:26721535:A>G,NM_194248.2:c.765+3087T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,6.065,0.001,1KG_EUR_AF,OTOF
430750,2:26721560:G>A,NM_194248.2:c.765+3062C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,10.93,\N,\N,OTOF
430751,2:26721564:T>C,NM_194248.2:c.765+3058A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,9.928,0.0008,1KG_AFR_AF,OTOF
430752,2:26721569:C>G,NM_194248.2:c.765+3053G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,10.69,0.0014,1KG_AMR_AF,OTOF
430753,2:26721634:A>C,NM_194248.2:c.765+2988T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.141,\N,\N,OTOF
430754,2:26721657:G>A,NM_194248.2:c.765+2965C>T,\N,\N,8/46,Benign,\N,intron_variant,5.213,0.0779,1KG_AFR_AF,OTOF
430755,2:26721659:G>A,NM_194248.2:c.765+2963C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,5.041,0.0008,1KG_AFR_AF,OTOF
430756,2:26721682:G>A,NM_194248.2:c.765+2940C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.331,\N,\N,OTOF
430757,2:26721691:T>C,NM_194248.2:c.765+2931A>G,\N,\N,8/46,Benign,\N,intron_variant,0.246,0.2436,1KG_AFR_AF,OTOF
430758,2:26721709:T>TC,NM_194248.2:c.765+2912dup,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430759,2:26721712:A>AT,NM_194248.2:c.765+2909dup,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430760,2:26721795:T>A,NM_194248.2:c.765+2827A>T,\N,\N,8/46,Unknown significance,\N,intron_variant,5.114,\N,\N,OTOF
430761,2:26721872:G>A,NM_194248.2:c.765+2750C>T,\N,\N,8/46,Benign,\N,intron_variant,14.4,0.0542,1KG_SAS_AF,OTOF
430762,2:26721874:G>A,NM_194248.2:c.765+2748C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,14.62,\N,\N,OTOF
430763,2:26721938:T>C,NM_194248.2:c.765+2684A>G,\N,\N,8/46,Benign,\N,intron_variant,1.46,0.0256,1KG_SAS_AF,OTOF
430764,2:26721946:G>T,NM_194248.2:c.765+2676C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.416,0.0031,1KG_SAS_AF,OTOF
430765,2:26721991:T>C,NM_194248.2:c.765+2631A>G,\N,\N,8/46,Benign,\N,intron_variant,0.689,0.2428,1KG_AFR_AF,OTOF
430766,2:26722095:G>C,NM_194248.2:c.765+2527C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.083,\N,\N,OTOF
430767,2:26722125:G>A,NM_194248.2:c.765+2497C>T,\N,\N,8/46,Benign,\N,intron_variant,3.003,0.6974,1KG_AFR_AF,OTOF
430768,2:26722161:C>T,NM_194248.2:c.765+2461G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.23,0.001,1KG_EAS_AF,OTOF
430769,2:26722162:G>A,NM_194248.2:c.765+2460C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.786,\N,\N,OTOF
430770,2:26722164:C>T,NM_194248.2:c.765+2458G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.515,0.001,1KG_EUR_AF,OTOF
430771,2:26722166:C>CG,NM_194248.2:c.765+2455dup,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430772,2:26722166:C>T,NM_194248.2:c.765+2456G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.709,0.0008,1KG_AFR_AF,OTOF
430773,2:26722180:C>T,NM_194248.2:c.765+2442G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.557,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
430774,2:26722191:T>G,NM_194248.2:c.765+2431A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.683,0.001,1KG_EAS_AF,OTOF
430775,2:26722266:C>A,NM_194248.2:c.765+2356G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.805,0.0008,1KG_AFR_AF,OTOF
430776,2:26722268:T>C,NM_194248.2:c.765+2354A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.241,\N,\N,OTOF
430777,2:26722276:A>G,NM_194248.2:c.765+2346T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.924,0.0045,1KG_AFR_AF,OTOF
430778,2:26722278:G>A,NM_194248.2:c.765+2344C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.741,\N,\N,OTOF
430779,2:26722292:G>A,NM_194248.2:c.765+2330C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.871,0.0008,1KG_AFR_AF,OTOF
430780,2:26722293:C>A,NM_194248.2:c.765+2329G>T,\N,\N,8/46,Benign,\N,intron_variant,3.93,0.6974,1KG_AFR_AF,OTOF
430781,2:26722356:C>T,NM_194248.2:c.765+2266G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.711,0.0015,1KG_AFR_AF,OTOF
430782,2:26722368:T>C,NM_194248.2:c.765+2254A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.559,0.001,1KG_EAS_AF,OTOF
430783,2:26722382:T>C,NM_194248.2:c.765+2240A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.47,\N,\N,OTOF
430784,2:26722413:T>C,NM_194248.2:c.765+2209A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.001,0.0038,1KG_AFR_AF,OTOF
430785,2:26722438:C>T,NM_194248.2:c.765+2184G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.119,\N,\N,OTOF
430786,2:26722439:G>A,NM_194248.2:c.765+2183C>T,\N,\N,8/46,Benign,\N,intron_variant,0.033,0.6967,1KG_AFR_AF,OTOF
430787,2:26722457:C>A,NM_194248.2:c.765+2165G>T,\N,\N,8/46,Benign,\N,intron_variant,3.195,0.494,1KG_EAS_AF,OTOF
430788,2:26722524:C>T,NM_194248.2:c.765+2098G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.041,0.0014,1KG_AMR_AF,OTOF
430789,2:26722525:G>A,NM_194248.2:c.765+2097C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.731,0.001,1KG_EAS_AF,OTOF
430790,2:26722567:C>T,NM_194248.2:c.765+2055G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.062,\N,\N,OTOF
430791,2:26722568:G>A,NM_194248.2:c.765+2054C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.21,0.0014,1KG_AMR_AF,OTOF
430792,2:26722579:A>G,NM_194248.2:c.765+2043T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.95,0.0023,1KG_AFR_AF,OTOF
430793,2:26722591:C>T,NM_194248.2:c.765+2031G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.68,0.0014,1KG_AMR_AF,OTOF
430794,2:26722615:G>A,NM_194248.2:c.765+2007C>T,\N,\N,8/46,Benign,\N,intron_variant,0.897,0.0102,1KG_SAS_AF,OTOF
430795,2:26722626:G>T,NM_194248.2:c.765+1996C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.29,\N,\N,OTOF
430796,2:26722651:C>G,NM_194248.2:c.765+1971G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,0.658,0.0008,1KG_AFR_AF,OTOF
430797,2:26722658:C>T,NM_194248.2:c.765+1964G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.637,0.0008,1KG_AFR_AF,OTOF
430798,2:26722679:T>C,NM_194248.2:c.765+1943A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.308,\N,\N,OTOF
430799,2:26722685:G>A,NM_194248.2:c.765+1937C>T,\N,\N,8/46,Benign,\N,intron_variant,2.244,0.0476,1KG_EAS_AF,OTOF
430800,2:26722788:T>C,NM_194248.2:c.765+1834A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,4.999,0.0008,1KG_AFR_AF,OTOF
430801,2:26722805:C>A,NM_194248.2:c.765+1817G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,7.119,\N,\N,OTOF
430802,2:26722809:C>T,NM_194248.2:c.765+1813G>A,\N,\N,8/46,Benign,\N,intron_variant,3.72,0.0327,1KG_SAS_AF,OTOF
430803,2:26722848:C>G,NM_194248.2:c.765+1774G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,0.807,0.0045,1KG_AFR_AF,OTOF
430804,2:26722900:T>C,NM_194248.2:c.765+1722A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,2.651,\N,\N,OTOF
430805,2:26722926:G>C,NM_194248.2:c.765+1696C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.814,\N,\N,OTOF
430806,2:26722929:G>C,NM_194248.2:c.765+1693C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.207,\N,\N,OTOF
430807,2:26722948:G>A,NM_194248.2:c.765+1674C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.694,\N,\N,OTOF
430808,2:26722985:G>A,NM_194248.2:c.765+1637C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.54,0.001,1KG_EUR_AF,OTOF
430809,2:26722989:A>G,NM_194248.2:c.765+1633T>C,\N,\N,8/46,Benign,\N,intron_variant,1.204,0.3976,1KG_EUR_AF,OTOF
430810,2:26723015:C>A,NM_194248.2:c.765+1607G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.357,0.001,1KG_EUR_AF,OTOF
430811,2:26723025:T>G,NM_194248.2:c.765+1597A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.147,\N,\N,OTOF
430812,2:26723031:C>T,NM_194248.2:c.765+1591G>A,\N,\N,8/46,Benign,\N,intron_variant,1.923,0.3976,1KG_EUR_AF,OTOF
430813,2:26723040:A>G,NM_194248.2:c.765+1582T>C,\N,\N,8/46,Benign,\N,intron_variant,3.955,0.7035,1KG_AFR_AF,OTOF
430814,2:26723054:A>C,NM_194248.2:c.765+1568T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.502,\N,\N,OTOF
430815,2:26723063:G>A,NM_194248.2:c.765+1559C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.095,0.0015,1KG_AFR_AF,OTOF
430816,2:26723102:T>G,NM_194248.2:c.765+1520A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,16.76,\N,\N,OTOF
430817,2:26723108:C>T,NM_194248.2:c.765+1514G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,16.46,\N,\N,OTOF
430818,2:26723110:A>G,NM_194248.2:c.765+1512T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,15.3,\N,\N,OTOF
430819,2:26723151:C>T,NM_194248.2:c.765+1471G>A,\N,\N,8/46,Benign,\N,intron_variant,1.647,0.0106,1KG_AFR_AF,OTOF
430820,2:26723156:A>G,NM_194248.2:c.765+1466T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.632,\N,\N,OTOF
430821,2:26723161:A>G,NM_194248.2:c.765+1461T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.243,\N,\N,OTOF
430822,2:26723162:A>G,NM_194248.2:c.765+1460T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.813,\N,\N,OTOF
430823,2:26723195:C>T,NM_194248.2:c.765+1427G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.011,0.0008,1KG_AFR_AF,OTOF
430824,2:26723197:G>A,NM_194248.2:c.765+1425C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.886,0.0008,1KG_AFR_AF,OTOF
430825,2:26723198:G>A,NM_194248.2:c.765+1424C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.426,\N,\N,OTOF
430826,2:26723210:C>T,NM_194248.2:c.765+1412G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.612,0.001,1KG_EUR_AF,OTOF
430827,2:26723244:C>T,NM_194248.2:c.765+1378G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.229,0.001,1KG_EUR_AF,OTOF
430828,2:26723310:T>G,NM_194248.2:c.765+1312A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.445,0.002,1KG_EAS_AF,OTOF
430829,2:26723312:G>T,NM_194248.2:c.765+1310C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.41,\N,\N,OTOF
430830,2:26723373:C>G,NM_194248.2:c.765+1249G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,4.206,\N,\N,OTOF
430831,2:26723376:C>T,NM_194248.2:c.765+1246G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.417,\N,\N,OTOF
430832,2:26723377:G>A,NM_194248.2:c.765+1245C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.383,\N,\N,OTOF
430833,2:26723403:G>A,NM_194248.2:c.765+1219C>T,\N,\N,8/46,Benign,\N,intron_variant,7.22,0.0112,1KG_SAS_AF,OTOF
430834,2:26723426:G>A,NM_194248.2:c.765+1196C>T,\N,\N,8/46,Benign,\N,intron_variant,1.155,0.005,1KG_EUR_AF,OTOF
430835,2:26723428:C>G,NM_194248.2:c.765+1194G>C,\N,\N,8/46,Benign,\N,intron_variant,0.349,0.3996,1KG_EUR_AF,OTOF
430836,2:26723444:A>T,NM_194248.2:c.765+1178T>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.652,\N,\N,OTOF
430837,2:26723445:G>C,NM_194248.2:c.765+1177C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.364,\N,\N,OTOF
430838,2:26723482:G>T,NM_194248.2:c.765+1140C>A,\N,\N,8/46,Benign,\N,intron_variant,1.55,0.0666,1KG_AFR_AF,OTOF
430839,2:26723490:G>A,NM_194248.2:c.765+1132C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,0.754,\N,\N,OTOF
430840,2:26723536:TG>T,NM_194248.2:c.765+1085del,\N,\N,8/46,Benign,\N,intron_variant,1.344,0.0068,1KG_AFR_AF,OTOF
430841,2:26723568:G>A,NM_194248.2:c.765+1054C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.478,\N,\N,OTOF
430842,2:26723575:G>A,NM_194248.2:c.765+1047C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.7,0.001,1KG_EAS_AF,OTOF
430843,2:26723575:G>T,NM_194248.2:c.765+1047C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,0.328,\N,\N,OTOF
430844,2:26723576:G>A,NM_194248.2:c.765+1046C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.356,\N,\N,OTOF
430845,2:26723582:A>G,NM_194248.2:c.765+1040T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.591,\N,\N,OTOF
430846,2:26723603:T>G,NM_194248.2:c.765+1019A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,5.55,\N,\N,OTOF
430847,2:26723605:G>A,NM_194248.2:c.765+1017C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.465,0.001,1KG_EAS_AF,OTOF
430848,2:26723610:A>T,NM_194248.2:c.765+1012T>A,\N,\N,8/46,Benign,\N,intron_variant,3.143,0.2428,1KG_AFR_AF,OTOF
430849,2:26723624:T>C,NM_194248.2:c.765+998A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.776,0.0015,1KG_AFR_AF,OTOF
430850,2:26723666:G>A,NM_194248.2:c.765+956C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.937,0.0038,1KG_AFR_AF,OTOF
430851,2:26723675:G>A,NM_194248.2:c.765+947C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,2.796,\N,\N,OTOF
430852,2:26723697:A>G,NM_194248.2:c.765+925T>C,\N,\N,8/46,Benign,\N,intron_variant,4.137,0.8869,1KG_EAS_AF,OTOF
430853,2:26723727:G>A,NM_194248.2:c.765+895C>T,\N,\N,8/46,Benign,\N,intron_variant,3.101,0.8869,1KG_EAS_AF,OTOF
430854,2:26723750:A>T,NM_194248.2:c.765+872T>A,\N,\N,8/46,Unknown significance,\N,intron_variant,1.606,\N,\N,OTOF
430855,2:26723823:C>T,NM_194248.2:c.765+799G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.901,\N,\N,OTOF
430856,2:26723870:C>T,NM_194248.2:c.765+752G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.84,\N,\N,OTOF
430857,2:26723882:A>G,NM_194248.2:c.765+740T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.305,\N,\N,OTOF
430858,2:26723989:T>C,NM_194248.2:c.765+633A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,12.35,0.002,1KG_EAS_AF,OTOF
430859,2:26724025:G>A,NM_194248.2:c.765+597C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,14.14,0.0014,1KG_AMR_AF,OTOF
430860,2:26724113:T>TA,NM_194248.2:c.765+508dup,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430861,2:26724142:C>T,NM_194248.2:c.765+480G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.287,0.001,1KG_EAS_AF,OTOF
430862,2:26724159:G>GA,NM_194248.2:c.765+462dup,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430863,2:26724181:A>C,NM_194248.2:c.765+441T>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.932,\N,\N,OTOF
430864,2:26724202:T>C,NM_194248.2:c.765+420A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.135,0.002,1KG_SAS_AF,OTOF
430865,2:26724205:T>A,NM_194248.2:c.765+417A>T,\N,\N,8/46,Benign,\N,intron_variant,5.915,0.8869,1KG_EAS_AF,OTOF
430866,2:26724243:T>C,NM_194248.2:c.765+379A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,3.858,0.0014,1KG_AMR_AF,OTOF
430867,2:26724300:C>CT,NM_194248.2:c.765+321dup,\N,\N,8/46,Benign,\N,intron_variant,9.176,0.0129,1KG_AFR_AF,OTOF
430868,2:26724321:CTT>C,NM_194248.2:c.765+299_765+300del,\N,\N,8/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430869,2:26724333:T>C,NM_194248.2:c.765+289A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.555,0.0008,1KG_AFR_AF,OTOF
430870,2:26724338:G>A,NM_194248.2:c.765+284C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.583,0.0014,1KG_AMR_AF,OTOF
430871,2:26724363:T>C,NM_194248.2:c.765+259A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.342,\N,\N,OTOF
430872,2:26724387:G>A,NM_194248.2:c.765+235C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,14.69,0.001,1KG_SAS_AF,OTOF
430873,2:26724406:G>T,NM_194248.2:c.765+216C>A,\N,\N,8/46,Unknown significance,\N,intron_variant,14.09,\N,\N,OTOF
430874,2:26724442:A>G,NM_194248.2:c.765+180T>C,\N,\N,8/46,Benign,\N,intron_variant,4.49,0.496,1KG_EAS_AF,OTOF
430875,2:26724444:T>C,NM_194248.2:c.765+178A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,3.416,\N,\N,OTOF
430876,2:26724446:A>G,NM_194248.2:c.765+176T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,2.858,0.001,1KG_SAS_AF,OTOF
430877,2:26724488:G>A,NM_194248.2:c.765+134C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,4.7,\N,\N,OTOF
430878,2:26724521:C>T,NM_194248.2:c.765+101G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.361,0.001,1KG_SAS_AF,OTOF
430879,2:26724534:C>A,NM_194248.2:c.765+88G>T,\N,\N,8/46,Unknown significance,\N,intron_variant,3.818,0.0038,1KG_AFR_AF,OTOF
430880,2:26724573:C>T,NM_194248.2:c.765+49G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,3.746,0.000226963,EVS_AA_AF,OTOF
430881,2:26724574:C>G,NM_194248.2:c.765+48G>C,\N,\N,8/46,Unknown significance,\N,intron_variant,1.147,0.00300856,EXAC_EAS_AF,OTOF
430882,2:26724574:C>T,NM_194248.2:c.765+48G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,2.605,0.00104143,EXAC_EAS_AF,OTOF
430883,2:26724575:A>G,NM_194248.2:c.765+47T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,5.951,0.0000150204,EXAC_NFE_AF,OTOF
430884,2:26724579:G>C,NM_194248.2:c.765+43C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.119,0.0000965437,EXAC_AFR_AF,OTOF
430885,2:26724584:G>C,NM_194248.2:c.765+38C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,1.386,\N,\N,OTOF
430886,2:26724585:A>G,NM_194248.2:c.765+37T>C,\N,\N,8/46,Unknown significance,\N,intron_variant,3.39,0.000173491,EXAC_AMR_AF,OTOF
430887,2:26724589:T>G,NM_194248.2:c.765+33A>C,\N,\N,8/46,Unknown significance,\N,intron_variant,5.837,0.0000605987,EXAC_SAS_AF,OTOF
430888,2:26724596:C>T,NM_194248.2:c.765+26G>A,\N,\N,8/46,Unknown significance,\N,intron_variant,5.394,0.00110619,EXAC_OTH_AF,OTOF
430889,2:26724602:G>A,NM_194248.2:c.765+20C>T,\N,\N,8/46,Unknown significance,\N,intron_variant,1.635,0.0000150002,EXAC_NFE_AF,OTOF
430890,2:26724602:G>C,NM_194248.2:c.765+20C>G,\N,\N,8/46,Unknown significance,\N,intron_variant,0.16,0.0000605767,EXAC_SAS_AF,OTOF
430891,2:26724605:T>C,NM_194248.2:c.765+17A>G,\N,\N,8/46,Unknown significance,\N,intron_variant,3.785,0.0025,OTO_JP_AF,OTOF
430892,2:26724622:C>G,NM_194248.2:c.765G>C,NP_919224.1:p.Gln255His,8/47,\N,Pathogenic,Deafness| non-syndromic,missense_variant&splice_region_variant,29.6,\N,\N,OTOF
430893,2:26724626:T>C,NM_194248.2:c.761A>G,NP_919224.1:p.Tyr254Cys,8/47,\N,Unknown significance,\N,missense_variant,26.8,0.003125,OTO_US_AF,OTOF
430894,2:26724635:G>A,NM_194248.2:c.752C>T,NP_919224.1:p.Pro251Leu,8/47,\N,Unknown significance,\N,missense_variant,26.1,0.000453926,EVS_AA_AF,OTOF
430895,2:26724638:C>T,NM_194248.2:c.749G>A,NP_919224.1:p.Arg250Gln,8/47,\N,Unknown significance,\N,missense_variant,35,0.003125,OTO_US_AF,OTOF
430896,2:26724639:G>A,NM_194248.2:c.748C>T,NP_919224.1:p.Arg250Trp,8/47,\N,Unknown significance,\N,missense_variant,32,0.0011534,EXAC_AFR_AF,OTOF
430897,2:26724652:C>T,NM_194248.2:c.735G>A,NP_919224.1:p.Glu245=,8/47,\N,Unknown significance,\N,synonymous_variant,15.2,0.0029,1KG_AMR_AF,OTOF
430898,2:26724655:C>T,NM_194248.2:c.732G>A,NP_919224.1:p.Met244Ile,8/47,\N,Unknown significance,\N,missense_variant,17.22,0.0000149858,EXAC_NFE_AF,OTOF
430899,2:26724659:T>C,NM_194248.2:c.728A>G,NP_919224.1:p.Lys243Arg,8/47,\N,Unknown significance,\N,missense_variant,21,0.000060562,EXAC_SAS_AF,OTOF
430900,2:26724669:G>C,NM_194248.2:c.718C>G,NP_919224.1:p.Pro240Ala,8/47,\N,Unknown significance,\N,missense_variant,22,0.000192271,EXAC_AFR_AF,OTOF
430901,2:26724669:G>T,NM_194248.2:c.718C>A,NP_919224.1:p.Pro240Thr,8/47,\N,Unknown significance,\N,missense_variant,23,0.000115554,EXAC_EAS_AF,OTOF
430902,2:26724678:T>C,NM_194248.2:c.711-2A>G,\N,\N,7/46,Pathogenic,Deafness| non-syndromic,splice_acceptor_variant,25.7,\N,\N,OTOF
430903,2:26724685:G>C,NM_194248.2:c.711-9C>G,\N,\N,7/46,Unknown significance,\N,intron_variant,7.22,0.0000149867,EXAC_NFE_AF,OTOF
430904,2:26724694:C>T,NM_194248.2:c.711-18G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,0.655,0.00008992,EXAC_NFE_AF,OTOF
430905,2:26724699:A>G,NM_194248.2:c.711-23T>C,\N,\N,7/46,Unknown significance,\N,intron_variant,7.98,\N,\N,OTOF
430906,2:26724703:C>T,NM_194248.2:c.711-27G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,2.494,0.0000299742,EXAC_NFE_AF,OTOF
430907,2:26724708:G>A,NM_194248.2:c.711-32C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,3.856,0.0000149876,EXAC_NFE_AF,OTOF
430908,2:26724715:G>A,NM_194248.2:c.711-39C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,2.085,0.000181774,EXAC_SAS_AF,OTOF
430909,2:26724717:C>G,NM_194248.2:c.711-41G>C,\N,\N,7/46,Unknown significance,\N,intron_variant,2.846,\N,\N,OTOF
430910,2:26724719:G>A,NM_194248.2:c.711-43C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,4.891,0.00011558,EXAC_EAS_AF,OTOF
430911,2:26724722:T>C,NM_194248.2:c.711-46A>G,\N,\N,7/46,Unknown significance,\N,intron_variant,1.825,0.0000149916,EXAC_NFE_AF,OTOF
430912,2:26724724:T>C,NM_194248.2:c.711-48A>G,\N,\N,7/46,Unknown significance,\N,intron_variant,2.1,0.000348837,EVS_EA_AF,OTOF
430913,2:26724724:T>G,NM_194248.2:c.711-48A>C,\N,\N,7/46,Unknown significance,\N,intron_variant,3.31,0.0000299868,EXAC_NFE_AF,OTOF
430914,2:26724725:T>G,NM_194248.2:c.711-49A>C,\N,\N,7/46,Benign,\N,intron_variant,6.235,0.8859,1KG_EAS_AF,OTOF
430915,2:26724737:C>T,NM_194248.2:c.711-61G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,4.795,\N,\N,OTOF
430916,2:26724831:T>C,NM_194248.2:c.711-155A>G,\N,\N,7/46,Unknown significance,\N,intron_variant,0.901,0.0008,1KG_AFR_AF,OTOF
430917,2:26724831:T>G,NM_194248.2:c.711-155A>C,\N,\N,7/46,Unknown significance,\N,intron_variant,1.564,\N,\N,OTOF
430918,2:26724849:G>A,NM_194248.2:c.711-173C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,3.655,\N,\N,OTOF
430919,2:26724897:T>C,NM_194248.2:c.711-221A>G,\N,\N,7/46,Unknown significance,\N,intron_variant,0.79,\N,\N,OTOF
430920,2:26724899:G>A,NM_194248.2:c.711-223C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,3.884,\N,\N,OTOF
430921,2:26725020:C>T,NM_194248.2:c.710+148G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,3.822,\N,\N,OTOF
430922,2:26725044:G>A,NM_194248.2:c.710+124C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,0.077,\N,\N,OTOF
430923,2:26725045:T>C,NM_194248.2:c.710+123A>G,\N,\N,7/46,Benign,\N,intron_variant,1.099,0.208,1KG_AFR_AF,OTOF
430924,2:26725058:A>G,NM_194248.2:c.710+110T>C,\N,\N,7/46,Unknown significance,\N,intron_variant,1.817,0.001,1KG_EUR_AF,OTOF
430925,2:26725074:C>T,NM_194248.2:c.710+94G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,4.098,0.0015,1KG_AFR_AF,OTOF
430926,2:26725089:C>T,NM_194248.2:c.710+79G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,2.768,0.001,1KG_EUR_AF,OTOF
430927,2:26725111:C>A,NM_194248.2:c.710+57G>T,\N,\N,7/46,Unknown significance,\N,intron_variant,2.778,0.0008,1KG_AFR_AF,OTOF
430928,2:26725117:C>T,NM_194248.2:c.710+51G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,7.229,0.000015217,EXAC_NFE_AF,OTOF
430929,2:26725125:C>G,NM_194248.2:c.710+43G>C,\N,\N,7/46,Unknown significance,\N,intron_variant,1.22,0.001,1KG_EAS_AF,OTOF
430930,2:26725130:T>G,NM_194248.2:c.710+38A>C,\N,\N,7/46,Unknown significance,\N,intron_variant,7.766,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430931,2:26725131:G>T,NM_194248.2:c.710+37C>A,\N,\N,7/46,Unknown significance,\N,intron_variant,3.343,0.0000151971,EXAC_NFE_AF,OTOF
430932,2:26725132:G>A,NM_194248.2:c.710+36C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,6.938,0.0000151888,EXAC_NFE_AF,OTOF
430933,2:26725143:G>C,NM_194248.2:c.710+25C>G,\N,\N,7/46,Unknown significance,\N,intron_variant,1.894,0.0000151492,EXAC_NFE_AF,OTOF
430934,2:26725150:G>A,NM_194248.2:c.710+18C>T,\N,\N,7/46,Unknown significance,\N,intron_variant,4.2,0.0008,1KG_AFR_AF,OTOF
430935,2:26725157:C>G,NM_194248.2:c.710+11G>C,\N,\N,7/46,Unknown significance,\N,intron_variant,1.242,0.000087535,EXAC_AMR_AF,OTOF
430936,2:26725157:C>T,NM_194248.2:c.710+11G>A,\N,\N,7/46,Unknown significance,\N,intron_variant,2.576,0.000122444,EXAC_SAS_AF,OTOF
430937,2:26725158:G>A,NM_194248.2:c.710+10C>T,\N,\N,7/46,Benign,\N,intron_variant,0.798,0.0425,OTO_AJ_AF,OTOF
430938,2:26725168:C>G,NM_194248.2:c.710G>C,NP_919224.1:p.Arg237Pro,7/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.000061192,EXAC_SAS_AF,OTOF
430939,2:26725168:C>T,NM_194248.2:c.710G>A,NP_919224.1:p.Arg237Gln,7/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,35,0.000195351,EXAC_AFR_AF,OTOF
430940,2:26725169:G>A,NM_194248.2:c.709C>T,NP_919224.1:p.Arg237Ter,7/47,\N,Pathogenic,Deafness| non-syndromic,stop_gained&splice_region_variant,37,\N,\N,OTOF
430941,2:26725170:C>T,NM_194248.2:c.708G>A,NP_919224.1:p.Lys236=,7/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,17.93,0.000226963,EVS_AA_AF,OTOF
430942,2:26725175:T>C,NM_194248.2:c.703A>G,NP_919224.1:p.Asn235Asp,7/47,\N,Unknown significance,\N,missense_variant,23.9,0.0000753012,EXAC_NFE_AF,OTOF
430943,2:26725177:G>A,NM_194248.2:c.701C>T,NP_919224.1:p.Ser234Phe,7/47,\N,Unknown significance,\N,missense_variant,31,0.000097352,EXAC_AFR_AF,OTOF
430944,2:26725182:A>G,NM_194248.2:c.696T>C,NP_919224.1:p.Asn232=,7/47,\N,Unknown significance,\N,synonymous_variant,1.824,0.0000150607,EXAC_NFE_AF,OTOF
430945,2:26725184:T>G,NM_194248.2:c.694A>C,NP_919224.1:p.Asn232His,7/47,\N,Unknown significance,\N,missense_variant,24.7,0.000231481,EXAC_EAS_AF,OTOF
430946,2:26725187:T>C,NM_194248.2:c.691A>G,NP_919224.1:p.Thr231Ala,7/47,\N,Unknown significance,\N,missense_variant,21.2,0.001,1KG_SAS_AF,OTOF
430947,2:26725208:C>A,NM_194248.2:c.670G>T,NP_919224.1:p.Ala224Ser,7/47,\N,Unknown significance,\N,missense_variant,25.4,0.000157431,EXAC_FIN_AF,OTOF
430948,2:26725209:T>C,NM_194248.2:c.669A>G,NP_919224.1:p.Leu223=,7/47,\N,Unknown significance,\N,synonymous_variant,0.744,\N,\N,OTOF
430949,2:26725216:A>G,NM_194248.2:c.662T>C,NP_919224.1:p.Val221Ala,7/47,\N,Unknown significance,\N,missense_variant,14.77,0.0000150998,EXAC_NFE_AF,OTOF
430950,2:26725216:A>C,NM_194248.2:c.662T>G,NP_919224.1:p.Val221Gly,7/47,\N,Unknown significance,\N,missense_variant,22.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430951,2:26725218:C>T,NM_194248.2:c.660G>A,NP_919224.1:p.Ser220=,7/47,\N,Unknown significance,\N,synonymous_variant,16.14,0.000784929,EXAC_FIN_AF,OTOF
430952,2:26725222:T>C,NM_194248.2:c.656A>G,NP_919224.1:p.Asp219Gly,7/47,\N,Unknown significance,\N,missense_variant,24,0.001,1KG_EAS_AF,OTOF
430953,2:26725224:G>A,NM_194248.2:c.654C>T,NP_919224.1:p.Pro218=,7/47,\N,Unknown significance,\N,synonymous_variant,7.552,0.0000879507,EXAC_AMR_AF,OTOF
430954,2:26725232:G>C,NM_194248.2:c.646C>G,NP_919224.1:p.Leu216Val,7/47,\N,Likely benign,\N,missense_variant,0.585,0.0000992851,EXAC_AFR_AF,OTOF
430955,2:26725236:A>G,NM_194248.2:c.642T>C,NP_919224.1:p.Asp214=,7/47,\N,Unknown significance,\N,synonymous_variant,0.023,0.000453926,EVS_AA_AF,OTOF
430956,2:26725237:T>C,NM_194248.2:c.641A>G,NP_919224.1:p.Asp214Gly,7/47,\N,Unknown significance,\N,missense_variant,6.761,0.000157778,EXAC_FIN_AF,OTOF
430957,2:26725240:C>T,NM_194248.2:c.638G>A,NP_919224.1:p.Gly213Glu,7/47,\N,Likely benign,\N,missense_variant,9.671,0.0000625,EXAC_SAS_AF,OTOF
430958,2:26725246:C>T,NM_194248.2:c.632G>A,NP_919224.1:p.Arg211Gln,7/47,\N,Likely benign,\N,missense_variant,13.41,0.000116632,EXAC_EAS_AF,OTOF
430959,2:26725247:G>A,NM_194248.2:c.631C>T,NP_919224.1:p.Arg211Trp,7/47,\N,Unknown significance,\N,missense_variant,25.2,0.000116279,EVS_EA_AF,OTOF
430960,2:26725254:C>CAGAT,NM_194248.2:c.620_623dup,NP_919224.1:p.Ala209SerfsTer25,7/47,\N,Unknown significance,\N,frameshift_variant,34,0.0000153572,EXAC_NFE_AF,OTOF
430961,2:26725256:G>C,NM_194248.2:c.622C>G,NP_919224.1:p.Leu208Val,7/47,\N,Likely benign,\N,missense_variant,12.21,0.000116279,EVS_EA_AF,OTOF
430962,2:26725258:T>A,NM_194248.2:c.620A>T,NP_919224.1:p.His207Leu,7/47,\N,Unknown significance,\N,missense_variant,21.1,0.0008,1KG_AFR_AF,OTOF
430963,2:26725266:G>T,NM_194248.2:c.612C>A,NP_919224.1:p.Asp204Glu,7/47,\N,Unknown significance,\N,missense_variant,23.2,0.0000637918,EXAC_SAS_AF,OTOF
430964,2:26725267:T>A,NM_194248.2:c.611A>T,NP_919224.1:p.Asp204Val,7/47,\N,Unknown significance,\N,missense_variant,25,0.000127828,EXAC_SAS_AF,OTOF
430965,2:26725270:T>G,NM_194248.2:c.608A>C,NP_919224.1:p.Glu203Ala,7/47,\N,Unknown significance,\N,missense_variant,22.5,0.0000641437,EXAC_SAS_AF,OTOF
430966,2:26725274:T>C,NM_194248.2:c.604A>G,NP_919224.1:p.Met202Val,7/47,\N,Unknown significance,\N,missense_variant,11.82,0.0000925583,EXAC_AMR_AF,OTOF
430967,2:26725278:C>T,NM_194248.2:c.600G>A,NP_919224.1:p.Leu200=,7/47,\N,Unknown significance,\N,synonymous_variant,11.23,\N,\N,OTOF
430968,2:26725283:C>A,NM_194248.2:c.595G>T,NP_919224.1:p.Val199Leu,7/47,\N,Likely benign,\N,missense_variant,19.68,0.000907853,EVS_AA_AF,OTOF
430969,2:26725284:C>T,NM_194248.2:c.594G>A,NP_919224.1:p.Ala198=,7/47,\N,Unknown significance,\N,synonymous_variant,13.76,0.000116279,EVS_EA_AF,OTOF
430970,2:26725285:G>A,NM_194248.2:c.593C>T,NP_919224.1:p.Ala198Val,7/47,\N,Unknown significance,\N,missense_variant,24.9,0.000244618,EXAC_EAS_AF,OTOF
430971,2:26725287:C>T,NM_194248.2:c.591G>A,NP_919224.1:p.Pro197=,7/47,\N,Unknown significance,\N,synonymous_variant,15.98,0.000122971,EXAC_EAS_AF,OTOF
430972,2:26725290:T>C,NM_194248.2:c.588A>G,NP_919224.1:p.Glu196=,7/47,\N,Unknown significance,\N,synonymous_variant,1.352,0.0000164533,EXAC_NFE_AF,OTOF
430973,2:26725297:G>A,NM_194248.2:c.584-3C>T,\N,\N,6/46,Unknown significance,\N,splice_region_variant&intron_variant,13.44,0.000127129,EXAC_EAS_AF,OTOF
430974,2:26725300:G>A,NM_194248.2:c.584-6C>T,\N,\N,6/46,Unknown significance,\N,splice_region_variant&intron_variant,6.036,0.0000170724,EXAC_NFE_AF,OTOF
430975,2:26725305:T>G,NM_194248.2:c.584-11A>C,\N,\N,6/46,Unknown significance,\N,intron_variant,6.39,0.002,1KG_SAS_AF,OTOF
430976,2:26725307:A>G,NM_194248.2:c.584-13T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,5.405,0.0000691372,EXAC_SAS_AF,OTOF
430977,2:26725315:G>A,NM_194248.2:c.584-21C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,6.188,0.00010618,EXAC_AMR_AF,OTOF
430978,2:26725316:T>A,NM_194248.2:c.584-22A>T,\N,\N,6/46,Unknown significance,\N,intron_variant,8.484,0.0000178616,EXAC_NFE_AF,OTOF
430979,2:26725321:T>G,NM_194248.2:c.584-27A>C,\N,\N,6/46,Unknown significance,\N,intron_variant,10.49,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
430980,2:26725325:C>A,NM_194248.2:c.584-31G>T,\N,\N,6/46,Unknown significance,\N,intron_variant,11.27,0.000110668,EXAC_AMR_AF,OTOF
430981,2:26725329:C>T,NM_194248.2:c.584-35G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,2.257,0.001,1KG_SAS_AF,OTOF
430982,2:26725343:G>C,NM_194248.2:c.584-49C>G,\N,\N,6/46,Unknown significance,\N,intron_variant,1.872,0.000130378,EXAC_AFR_AF,OTOF
430983,2:26725352:T>C,NM_194248.2:c.584-58A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,3.457,\N,\N,OTOF
430984,2:26725352:T>TC,NM_194248.2:c.584-59dup,\N,\N,6/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
430985,2:26725393:C>T,NM_194248.2:c.584-99G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,2.353,\N,\N,OTOF
430986,2:26725398:T>C,NM_194248.2:c.584-104A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,5.389,0.001,1KG_EAS_AF,OTOF
430987,2:26725408:T>G,NM_194248.2:c.584-114A>C,\N,\N,6/46,Unknown significance,\N,intron_variant,3.988,0.0031,1KG_SAS_AF,OTOF
430988,2:26725427:A>G,NM_194248.2:c.584-133T>C,\N,\N,6/46,Benign,\N,intron_variant,5.292,0.0129,1KG_EUR_AF,OTOF
430989,2:26725454:T>C,NM_194248.2:c.584-160A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,12.21,\N,\N,OTOF
430990,2:26725465:G>A,NM_194248.2:c.584-171C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,2.839,\N,\N,OTOF
430991,2:26725469:T>G,NM_194248.2:c.584-175A>C,\N,\N,6/46,Benign,\N,intron_variant,4.967,0.0136,1KG_AFR_AF,OTOF
430992,2:26725536:A>G,NM_194248.2:c.584-242T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,0.019,\N,\N,OTOF
430993,2:26725558:A>G,NM_194248.2:c.584-264T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,1.903,\N,\N,OTOF
430994,2:26725565:A>G,NM_194248.2:c.584-271T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,1.835,0.001,1KG_EAS_AF,OTOF
430995,2:26725603:A>G,NM_194248.2:c.584-309T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,1.054,\N,\N,OTOF
430996,2:26725622:C>G,NM_194248.2:c.584-328G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,4.078,0.001,1KG_SAS_AF,OTOF
430997,2:26725626:T>G,NM_194248.2:c.584-332A>C,\N,\N,6/46,Unknown significance,\N,intron_variant,8.173,0.001,1KG_EUR_AF,OTOF
430998,2:26725650:C>T,NM_194248.2:c.584-356G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,3.947,0.001,1KG_EUR_AF,OTOF
430999,2:26725670:T>C,NM_194248.2:c.584-376A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,4.466,\N,\N,OTOF
431000,2:26725672:C>T,NM_194248.2:c.584-378G>A,\N,\N,6/46,Benign,\N,intron_variant,4.733,0.0248,1KG_EAS_AF,OTOF
431001,2:26725687:T>C,NM_194248.2:c.584-393A>G,\N,\N,6/46,Benign,\N,intron_variant,4.562,0.0129,1KG_AFR_AF,OTOF
431002,2:26725736:T>C,NM_194248.2:c.584-442A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,2.972,\N,\N,OTOF
431003,2:26725746:A>G,NM_194248.2:c.584-452T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,1.621,0.0031,1KG_SAS_AF,OTOF
431004,2:26725760:A>G,NM_194248.2:c.584-466T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,6.134,0.001,1KG_EAS_AF|1KG_EUR_AF,OTOF
431005,2:26725767:C>G,NM_194248.2:c.584-473G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,6.111,0.0045,1KG_AFR_AF,OTOF
431006,2:26725769:A>G,NM_194248.2:c.584-475T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,6.081,\N,\N,OTOF
431007,2:26725801:T>TG,NM_194248.2:c.584-508dup,\N,\N,6/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431008,2:26725820:C>T,NM_194248.2:c.584-526G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,4.377,0.0008,1KG_AFR_AF,OTOF
431009,2:26725824:T>C,NM_194248.2:c.584-530A>G,\N,\N,6/46,Benign,\N,intron_variant,1.994,0.494,1KG_EAS_AF,OTOF
431010,2:26725865:G>T,NM_194248.2:c.584-571C>A,\N,\N,6/46,Unknown significance,\N,intron_variant,0.204,0.0023,1KG_AFR_AF,OTOF
431011,2:26725880:C>T,NM_194248.2:c.584-586G>A,\N,\N,6/46,Benign,\N,intron_variant,5.637,0.3976,1KG_EUR_AF,OTOF
431012,2:26725920:G>A,NM_194248.2:c.584-626C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,5.125,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
431013,2:26725923:C>T,NM_194248.2:c.584-629G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,8.136,0.002,1KG_SAS_AF,OTOF
431014,2:26725961:G>A,NM_194248.2:c.584-667C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,5.699,\N,\N,OTOF
431015,2:26725975:G>A,NM_194248.2:c.583+665C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,0.108,0.001,1KG_SAS_AF,OTOF
431016,2:26726019:G>A,NM_194248.2:c.583+621C>T,\N,\N,6/46,Benign,\N,intron_variant,4.475,0.0378,1KG_AFR_AF,OTOF
431017,2:26726024:TG>T,NM_194248.2:c.583+615del,\N,\N,6/46,Unknown significance,\N,intron_variant,4.681,0.0023,1KG_AFR_AF,OTOF
431018,2:26726025:G>A,NM_194248.2:c.583+615C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,4.685,\N,\N,OTOF
431019,2:26726046:G>A,NM_194248.2:c.583+594C>T,\N,\N,6/46,Benign,\N,intron_variant,8.097,0.0439,1KG_AFR_AF,OTOF
431020,2:26726134:T>C,NM_194248.2:c.583+506A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,2.851,0.0008,1KG_AFR_AF,OTOF
431021,2:26726187:G>A,NM_194248.2:c.583+453C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,7.052,0.0008,1KG_AFR_AF,OTOF
431022,2:26726249:G>T,NM_194248.2:c.583+391C>A,\N,\N,6/46,Unknown significance,\N,intron_variant,2.938,0.0008,1KG_AFR_AF,OTOF
431023,2:26726264:C>A,NM_194248.2:c.583+376G>T,\N,\N,6/46,Unknown significance,\N,intron_variant,9.803,0.0008,1KG_AFR_AF,OTOF
431024,2:26726284:G>A,NM_194248.2:c.583+356C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,7.883,\N,\N,OTOF
431025,2:26726305:C>T,NM_194248.2:c.583+335G>A,\N,\N,6/46,Benign,\N,intron_variant,9.171,0.0151,1KG_AFR_AF,OTOF
431026,2:26726435:G>A,NM_194248.2:c.583+205C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,7.854,\N,\N,OTOF
431027,2:26726446:C>G,NM_194248.2:c.583+194G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,8.597,0.0008,1KG_AFR_AF,OTOF
431028,2:26726478:C>T,NM_194248.2:c.583+162G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,9.245,0.0031,1KG_SAS_AF,OTOF
431029,2:26726482:G>A,NM_194248.2:c.583+158C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,7.865,0.001,1KG_EAS_AF,OTOF
431030,2:26726485:G>C,NM_194248.2:c.583+155C>G,\N,\N,6/46,Unknown significance,\N,intron_variant,6.581,0.003,1KG_EAS_AF,OTOF
431031,2:26726491:T>A,NM_194248.2:c.583+149A>T,\N,\N,6/46,Unknown significance,\N,intron_variant,7.873,0.001,1KG_EUR_AF,OTOF
431032,2:26726500:G>A,NM_194248.2:c.583+140C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,9.009,0.003,1KG_AFR_AF,OTOF
431033,2:26726514:G>A,NM_194248.2:c.583+126C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,8.712,0.001,1KG_EUR_AF,OTOF
431034,2:26726589:G>A,NM_194248.2:c.583+51C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,8.244,0.0000324696,EXAC_NFE_AF,OTOF
431035,2:26726590:A>G,NM_194248.2:c.583+50T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,12.52,\N,\N,OTOF
431036,2:26726594:C>G,NM_194248.2:c.583+46G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,13.97,\N,\N,OTOF
431037,2:26726596:C>G,NM_194248.2:c.583+44G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,13.51,\N,\N,OTOF
431038,2:26726597:C>T,NM_194248.2:c.583+43G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,15.29,0.000209881,EXAC_NFE_AF,OTOF
431039,2:26726600:G>T,NM_194248.2:c.583+40C>A,\N,\N,6/46,Unknown significance,\N,intron_variant,9.551,0.0015,1KG_AFR_AF,OTOF
431040,2:26726604:C>CGCGGGGCT,NM_194248.2:c.583+28_583+35dup,\N,\N,6/46,Unknown significance,\N,intron_variant,10.17,0.000121892,EXAC_SAS_AF,OTOF
431041,2:26726618:G>C,NM_194248.2:c.583+22C>G,\N,\N,6/46,Unknown significance,\N,intron_variant,3.244,\N,\N,OTOF
431042,2:26726620:T>C,NM_194248.2:c.583+20A>G,\N,\N,6/46,Unknown significance,\N,intron_variant,4.897,0.0000985999,EXAC_AFR_AF,OTOF
431043,2:26726623:C>G,NM_194248.2:c.583+17G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,10.45,0.000116279,EVS_EA_AF,OTOF
431044,2:26726626:G>A,NM_194248.2:c.583+14C>T,\N,\N,6/46,Unknown significance,\N,intron_variant,9.842,0.000015119,EXAC_NFE_AF,OTOF
431045,2:26726628:C>G,NM_194248.2:c.583+12G>C,\N,\N,6/46,Unknown significance,\N,intron_variant,9.253,\N,\N,OTOF
431046,2:26726628:C>T,NM_194248.2:c.583+12G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,10.62,0.0000151003,EXAC_NFE_AF,OTOF
431047,2:26726629:A>G,NM_194248.2:c.583+11T>C,\N,\N,6/46,Unknown significance,\N,intron_variant,6.229,0.0008,1KG_AFR_AF,OTOF
431048,2:26726630:C>T,NM_194248.2:c.583+10G>A,\N,\N,6/46,Unknown significance,\N,intron_variant,9.973,0.0000606061,EXAC_SAS_AF,OTOF
431049,2:26726637:T>C,NM_194248.2:c.583+3A>G,\N,\N,6/46,Unknown significance,\N,splice_region_variant&intron_variant,18.34,0.0000865801,EXAC_AMR_AF,OTOF
431050,2:26726642:G>T,NM_194248.2:c.581C>A,NP_919224.1:p.Pro194Gln,6/47,\N,Likely benign,\N,missense_variant&splice_region_variant,10.33,0.000116279,EVS_EA_AF,OTOF
431051,2:26726645:C>A,NM_194248.2:c.578G>T,NP_919224.1:p.Arg193Ile,6/47,\N,Unknown significance,\N,missense_variant,23.6,0.003,1KG_AFR_AF,OTOF
431052,2:26726652:G>A,NM_194248.2:c.571C>T,NP_919224.1:p.Pro191Ser,6/47,\N,Likely benign,\N,missense_variant,7.184,0.000172921,EXAC_AMR_AF,OTOF
431053,2:26726656:C>T,NM_194248.2:c.567G>A,NP_919224.1:p.Glu189=,6/47,\N,Unknown significance,\N,synonymous_variant,19.28,0.0000600132,EXAC_NFE_AF,OTOF
431054,2:26726670:G>A,NM_194248.2:c.553C>T,NP_919224.1:p.Arg185Trp,6/47,\N,Unknown significance,\N,missense_variant,35,0.0000149966,EXAC_NFE_AF,OTOF
431055,2:26726683:C>A,NM_194248.2:c.540G>T,NP_919224.1:p.Lys180Asn,6/47,\N,Unknown significance,\N,missense_variant,27.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431056,2:26726687:A>G,NM_194248.2:c.536T>C,NP_919224.1:p.Met179Thr,6/47,\N,Unknown significance,\N,missense_variant,24.8,0.0000864006,EXAC_AMR_AF,OTOF
431057,2:26726690:G>T,NM_194248.2:c.533C>A,NP_919224.1:p.Ala178Asp,6/47,\N,Unknown significance,\N,missense_variant,27,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431058,2:26726691:C>T,NM_194248.2:c.532G>A,NP_919224.1:p.Ala178Thr,6/47,\N,Unknown significance,\N,missense_variant,24.3,0.0000962464,EXAC_AFR_AF,OTOF
431059,2:26726692:G>A,NM_194248.2:c.531C>T,NP_919224.1:p.Ser177=,6/47,\N,Unknown significance,\N,synonymous_variant,18.65,0.000059979,EXAC_NFE_AF,OTOF
431060,2:26726696:A>G,NM_194248.2:c.527T>C,NP_919224.1:p.Phe176Ser,6/47,\N,Unknown significance,\N,missense_variant,23.5,0.0000962464,EXAC_AFR_AF,OTOF
431061,2:26726699:A>T,NM_194248.2:c.524T>A,NP_919224.1:p.Val175Glu,6/47,\N,Unknown significance,\N,missense_variant,25.6,0.000181686,EXAC_SAS_AF,OTOF
431062,2:26726700:C>T,NM_194248.2:c.523G>A,NP_919224.1:p.Val175Met,6/47,\N,Unknown significance,\N,missense_variant,28.6,0.0000149948,EXAC_NFE_AF,OTOF
431063,2:26726704:C>T,NM_194248.2:c.519G>A,NP_919224.1:p.Arg173=,6/47,\N,Unknown significance,\N,synonymous_variant,19.49,0.000462535,EXAC_EAS_AF,OTOF
431064,2:26726709:C>T,NM_194248.2:c.514G>A,NP_919224.1:p.Gly172Arg,6/47,\N,Unknown significance,\N,missense_variant,27.3,\N,\N,OTOF
431065,2:26726709:C>A,NM_194248.2:c.514G>T,NP_919224.1:p.Gly172Trp,6/47,\N,Unknown significance,\N,missense_variant,35,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431066,2:26726714:C>T,NM_194248.2:c.510-1G>A,\N,\N,5/46,Unknown significance,\N,splice_acceptor_variant,28.8,0.000232558,EVS_EA_AF,OTOF
431067,2:26726715:T>C,NM_194248.2:c.510-2A>G,\N,\N,5/46,Unknown significance,\N,splice_acceptor_variant,26.2,0.001,1KG_EAS_AF,OTOF
431068,2:26726718:G>C,NM_194248.2:c.510-5C>G,\N,\N,5/46,Unknown significance,\N,splice_region_variant&intron_variant,14.3,0.0000605694,EXAC_SAS_AF,OTOF
431069,2:26726719:A>AG,NM_194248.2:c.510-7dup,\N,\N,5/46,Unknown significance,\N,splice_region_variant&intron_variant,12.19,\N,\N,OTOF
431070,2:26726722:G>C,NM_194248.2:c.510-9C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,14.88,0.0000149948,EXAC_NFE_AF,OTOF
431071,2:26726722:G>T,NM_194248.2:c.510-9C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,15.77,0.000104963,EXAC_NFE_AF,OTOF
431072,2:26726724:G>A,NM_194248.2:c.510-11C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,16.36,0.0000149966,EXAC_NFE_AF,OTOF
431073,2:26726726:C>G,NM_194248.2:c.510-13G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,14.29,0.0000149952,EXAC_NFE_AF,OTOF
431074,2:26726730:C>T,NM_194248.2:c.510-17G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.5,0.00110619,EXAC_OTH_AF,OTOF
431075,2:26726752:G>A,NM_194248.2:c.510-39C>T,\N,\N,5/46,Benign,\N,intron_variant,10.93,0.465664,EXAC_FIN_AF,OTOF
431076,2:26726755:G>A,NM_194248.2:c.510-42C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,11.81,0.000242277,EXAC_SAS_AF,OTOF
431077,2:26726758:TG>T,NM_194248.2:c.510-46del,\N,\N,5/46,Unknown significance,\N,intron_variant,11.76,0.00110865,EXAC_OTH_AF,OTOF
431078,2:26726760:G>A,NM_194248.2:c.510-47C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,10.57,0.0000150137,EXAC_NFE_AF,OTOF
431079,2:26726761:A>G,NM_194248.2:c.510-48T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,10.91,0.0000150132,EXAC_NFE_AF,OTOF
431080,2:26726762:G>A,NM_194248.2:c.510-49C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,9.977,0.000115768,EXAC_EAS_AF,OTOF
431081,2:26726786:C>G,NM_194248.2:c.510-73G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,14.43,0.001,1KG_SAS_AF,OTOF
431082,2:26726796:G>A,NM_194248.2:c.510-83C>T,\N,\N,5/46,Benign,\N,intron_variant,9.919,0.0439,1KG_AFR_AF,OTOF
431083,2:26726802:A>G,NM_194248.2:c.510-89T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.157,0.001,1KG_EAS_AF,OTOF
431084,2:26726805:T>C,NM_194248.2:c.510-92A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,7.322,\N,\N,OTOF
431085,2:26726828:C>T,NM_194248.2:c.510-115G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,8.62,0.0015,1KG_AFR_AF,OTOF
431086,2:26726951:G>A,NM_194248.2:c.510-238C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.173,\N,\N,OTOF
431087,2:26726955:G>C,NM_194248.2:c.510-242C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.173,\N,\N,OTOF
431088,2:26726972:A>G,NM_194248.2:c.510-259T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,7.145,0.001,1KG_EAS_AF,OTOF
431089,2:26726976:A>G,NM_194248.2:c.510-263T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.668,0.0008,1KG_AFR_AF,OTOF
431090,2:26726982:C>T,NM_194248.2:c.510-269G>A,\N,\N,5/46,Benign,\N,intron_variant,7.923,0.0072,1KG_SAS_AF,OTOF
431091,2:26727016:G>A,NM_194248.2:c.510-303C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.592,\N,\N,OTOF
431092,2:26727050:C>T,NM_194248.2:c.510-337G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,7.571,0.0029,1KG_AMR_AF,OTOF
431093,2:26727082:C>G,NM_194248.2:c.510-369G>C,\N,\N,5/46,Benign,\N,intron_variant,1.579,0.0092,1KG_SAS_AF,OTOF
431094,2:26727116:C>T,NM_194248.2:c.510-403G>A,\N,\N,5/46,Benign,\N,intron_variant,5.548,0.495,1KG_EAS_AF,OTOF
431095,2:26727138:A>T,NM_194248.2:c.510-425T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.894,\N,\N,OTOF
431096,2:26727143:G>A,NM_194248.2:c.510-430C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.71,0.001,1KG_EUR_AF,OTOF
431097,2:26727163:C>G,NM_194248.2:c.510-450G>C,\N,\N,5/46,Benign,\N,intron_variant,4.766,0.013,1KG_AMR_AF,OTOF
431098,2:26727174:G>A,NM_194248.2:c.510-461C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.974,0.002,1KG_SAS_AF,OTOF
431099,2:26727178:G>C,NM_194248.2:c.510-465C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.765,0.001,1KG_EUR_AF,OTOF
431100,2:26727205:GC>G,NM_194248.2:c.510-493del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431101,2:26727208:G>A,NM_194248.2:c.510-495C>T,\N,\N,5/46,Benign,\N,intron_variant,1.956,0.3956,1KG_EUR_AF,OTOF
431102,2:26727247:G>T,NM_194248.2:c.510-534C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.639,\N,\N,OTOF
431103,2:26727271:A>G,NM_194248.2:c.510-558T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.432,0.0029,1KG_AMR_AF,OTOF
431104,2:26727293:A>G,NM_194248.2:c.510-580T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,4.823,0.0038,1KG_AFR_AF,OTOF
431105,2:26727293:A>T,NM_194248.2:c.510-580T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.792,\N,\N,OTOF
431106,2:26727302:T>C,NM_194248.2:c.510-589A>G,\N,\N,5/46,Benign,\N,intron_variant,5.131,0.005,1KG_EAS_AF,OTOF
431107,2:26727325:C>T,NM_194248.2:c.510-612G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.584,0.001,1KG_EAS_AF,OTOF
431108,2:26727339:G>C,NM_194248.2:c.510-626C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.159,0.001,1KG_EAS_AF,OTOF
431109,2:26727394:C>G,NM_194248.2:c.510-681G>C,\N,\N,5/46,Benign,\N,intron_variant,3.647,0.496,1KG_EAS_AF,OTOF
431110,2:26727408:A>G,NM_194248.2:c.510-695T>C,\N,\N,5/46,Benign,\N,intron_variant,3.628,0.8859,1KG_EAS_AF,OTOF
431111,2:26727415:C>G,NM_194248.2:c.510-702G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.328,\N,\N,OTOF
431112,2:26727420:C>A,NM_194248.2:c.510-707G>T,\N,\N,5/46,Benign,\N,intron_variant,9.897,0.0245,1KG_SAS_AF,OTOF
431113,2:26727440:T>C,NM_194248.2:c.510-727A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.528,0.0008,1KG_AFR_AF,OTOF
431114,2:26727467:C>G,NM_194248.2:c.510-754G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,13.82,0.0008,1KG_AFR_AF,OTOF
431115,2:26727485:C>A,NM_194248.2:c.510-772G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,8.266,\N,\N,OTOF
431116,2:26727514:T>C,NM_194248.2:c.510-801A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,13.58,\N,\N,OTOF
431117,2:26727547:C>T,NM_194248.2:c.510-834G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,10.98,0.001,1KG_SAS_AF,OTOF
431118,2:26727587:T>TC,NM_194248.2:c.510-875dup,\N,\N,5/46,Benign,\N,intron_variant,5.547,0.4016,1KG_EUR_AF,OTOF
431119,2:26727593:C>T,NM_194248.2:c.510-880G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.093,\N,\N,OTOF
431120,2:26727596:C>G,NM_194248.2:c.510-883G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.057,0.0008,1KG_AFR_AF,OTOF
431121,2:26727642:C>G,NM_194248.2:c.510-929G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,13.3,\N,\N,OTOF
431122,2:26727646:T>C,NM_194248.2:c.510-933A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,13.36,0.0008,1KG_AFR_AF,OTOF
431123,2:26727668:T>G,NM_194248.2:c.510-955A>C,\N,\N,5/46,Benign,\N,intron_variant,13.13,0.3976,1KG_EUR_AF,OTOF
431124,2:26727694:G>A,NM_194248.2:c.510-981C>T,\N,\N,5/46,Benign,\N,intron_variant,16.44,0.4016,1KG_EUR_AF,OTOF
431125,2:26727724:A>G,NM_194248.2:c.510-1011T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.41,0.0008,1KG_AFR_AF,OTOF
431126,2:26727732:G>A,NM_194248.2:c.510-1019C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.137,\N,\N,OTOF
431127,2:26727761:A>G,NM_194248.2:c.510-1048T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.914,\N,\N,OTOF
431128,2:26727771:C>T,NM_194248.2:c.510-1058G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.759,\N,\N,OTOF
431129,2:26727774:T>A,NM_194248.2:c.510-1061A>T,\N,\N,5/46,Benign,\N,intron_variant,5.095,0.0053,1KG_AFR_AF,OTOF
431130,2:26727783:A>G,NM_194248.2:c.510-1070T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.365,0.0008,1KG_AFR_AF,OTOF
431131,2:26727801:C>G,NM_194248.2:c.510-1088G>C,\N,\N,5/46,Benign,\N,intron_variant,5.229,0.0575,1KG_AFR_AF,OTOF
431132,2:26727828:A>G,NM_194248.2:c.510-1115T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,8.887,0.0045,1KG_AFR_AF,OTOF
431133,2:26727842:C>T,NM_194248.2:c.510-1129G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,16.77,0.0014,1KG_AMR_AF,OTOF
431134,2:26727856:C>G,NM_194248.2:c.510-1143G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,10.28,0.0031,1KG_SAS_AF,OTOF
431135,2:26727958:T>C,NM_194248.2:c.510-1245A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.514,0.0008,1KG_AFR_AF,OTOF
431136,2:26727980:C>G,NM_194248.2:c.510-1267G>C,\N,\N,5/46,Benign,\N,intron_variant,1.355,0.0068,1KG_AFR_AF,OTOF
431137,2:26728007:A>G,NM_194248.2:c.510-1294T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.56,0.001,1KG_EUR_AF,OTOF
431138,2:26728024:C>A,NM_194248.2:c.510-1311G>T,\N,\N,5/46,Benign,\N,intron_variant,2.474,0.0439,1KG_AFR_AF,OTOF
431139,2:26728024:C>T,NM_194248.2:c.510-1311G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.447,\N,\N,OTOF
431140,2:26728025:G>A,NM_194248.2:c.510-1312C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.766,0.001,1KG_EAS_AF,OTOF
431141,2:26728049:T>C,NM_194248.2:c.510-1336A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.92,0.0008,1KG_AFR_AF,OTOF
431142,2:26728050:T>A,NM_194248.2:c.510-1337A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.341,0.0014,1KG_AMR_AF,OTOF
431143,2:26728051:G>C,NM_194248.2:c.510-1338C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.52,0.001,1KG_EAS_AF,OTOF
431144,2:26728069:G>A,NM_194248.2:c.510-1356C>T,\N,\N,5/46,Benign,\N,intron_variant,0.747,0.0711,1KG_AFR_AF,OTOF
431145,2:26728092:G>T,NM_194248.2:c.510-1379C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.25,0.003,1KG_AFR_AF,OTOF
431146,2:26728095:C>T,NM_194248.2:c.510-1382G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.097,0.0038,1KG_AFR_AF,OTOF
431147,2:26728096:A>T,NM_194248.2:c.510-1383T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.944,\N,\N,OTOF
431148,2:26728100:G>A,NM_194248.2:c.510-1387C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.026,0.001,1KG_SAS_AF,OTOF
431149,2:26728101:C>T,NM_194248.2:c.510-1388G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.828,0.001,1KG_EAS_AF,OTOF
431150,2:26728169:A>G,NM_194248.2:c.510-1456T>C,\N,\N,5/46,Benign,\N,intron_variant,2.715,0.0068,1KG_AFR_AF,OTOF
431151,2:26728179:C>T,NM_194248.2:c.510-1466G>A,\N,\N,5/46,Benign,\N,intron_variant,2.757,0.498,1KG_EAS_AF,OTOF
431152,2:26728195:G>A,NM_194248.2:c.510-1482C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,11.02,0.001,1KG_SAS_AF,OTOF
431153,2:26728201:G>A,NM_194248.2:c.510-1488C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.917,\N,\N,OTOF
431154,2:26728207:G>A,NM_194248.2:c.510-1494C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.351,0.001,1KG_EAS_AF,OTOF
431155,2:26728245:C>T,NM_194248.2:c.510-1532G>A,\N,\N,5/46,Benign,\N,intron_variant,9.971,0.8859,1KG_EAS_AF,OTOF
431156,2:26728254:C>T,NM_194248.2:c.510-1541G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,7.658,\N,\N,OTOF
431157,2:26728265:A>G,NM_194248.2:c.510-1552T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.001,0.0041,1KG_SAS_AF,OTOF
431158,2:26728278:G>A,NM_194248.2:c.510-1565C>T,\N,\N,5/46,Benign,\N,intron_variant,2.067,0.496,1KG_EAS_AF,OTOF
431159,2:26728280:T>TACAC,NM_194248.2:c.510-1571_510-1568dup,\N,\N,5/46,Unknown significance,\N,intron_variant,0.962,\N,\N,OTOF
431160,2:26728280:TAC>T,NM_194248.2:c.510-1569_510-1568del,\N,\N,5/46,Benign,\N,intron_variant,4.584,0.5585,1KG_EAS_AF,OTOF
431161,2:26728282:C>CCA,NM_194248.2:c.510-1570_510-1569insTG,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431162,2:26728295:A>G,NM_194248.2:c.510-1582T>C,\N,\N,5/46,Benign,\N,intron_variant,1.733,0.0407,1KG_EAS_AF,OTOF
431163,2:26728302:C>CACAA,NM_194248.2:c.510-1590_510-1589insTTGT,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431164,2:26728302:C>CACACAG,NM_194248.2:c.510-1590_510-1589insCTGTGT,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431165,2:26728302:C>G,NM_194248.2:c.510-1589G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.181,\N,\N,OTOF
431166,2:26728304:G>C,NM_194248.2:c.510-1591C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.148,\N,\N,OTOF
431167,2:26728345:A>G,NM_194248.2:c.510-1632T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.211,0.001,1KG_EUR_AF,OTOF
431168,2:26728352:A>C,NM_194248.2:c.510-1639T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.522,0.0041,1KG_SAS_AF,OTOF
431169,2:26728355:G>T,NM_194248.2:c.510-1642C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.557,0.001,1KG_SAS_AF,OTOF
431170,2:26728383:G>C,NM_194248.2:c.510-1670C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,6.496,0.001,1KG_EUR_AF,OTOF
431171,2:26728472:G>C,NM_194248.2:c.510-1759C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.872,0.002,1KG_SAS_AF,OTOF
431172,2:26728473:G>A,NM_194248.2:c.510-1760C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.913,\N,\N,OTOF
431173,2:26728478:A>T,NM_194248.2:c.510-1765T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.904,0.0008,1KG_AFR_AF,OTOF
431174,2:26728483:C>G,NM_194248.2:c.510-1770G>C,\N,\N,5/46,Benign,\N,intron_variant,0.613,0.0696,1KG_AFR_AF,OTOF
431175,2:26728484:G>A,NM_194248.2:c.510-1771C>T,\N,\N,5/46,Benign,\N,intron_variant,0.624,0.006,1KG_EUR_AF,OTOF
431176,2:26728495:C>T,NM_194248.2:c.510-1782G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.231,\N,\N,OTOF
431177,2:26728496:G>A,NM_194248.2:c.510-1783C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.13,0.0008,1KG_AFR_AF,OTOF
431178,2:26728497:G>A,NM_194248.2:c.510-1784C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.62,\N,\N,OTOF
431179,2:26728527:A>T,NM_194248.2:c.510-1814T>A,\N,\N,5/46,Benign,\N,intron_variant,2.054,0.0106,1KG_AFR_AF,OTOF
431180,2:26728567:C>G,NM_194248.2:c.510-1854G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.906,0.0014,1KG_AMR_AF,OTOF
431181,2:26728588:G>A,NM_194248.2:c.510-1875C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.685,\N,\N,OTOF
431182,2:26728602:T>C,NM_194248.2:c.510-1889A>G,\N,\N,5/46,Benign,\N,intron_variant,1.21,0.0106,1KG_AFR_AF,OTOF
431183,2:26728608:G>A,NM_194248.2:c.510-1895C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.959,\N,\N,OTOF
431184,2:26728658:C>T,NM_194248.2:c.510-1945G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.225,\N,\N,OTOF
431185,2:26728677:G>C,NM_194248.2:c.510-1964C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.392,0.0014,1KG_AMR_AF,OTOF
431186,2:26728703:A>G,NM_194248.2:c.510-1990T>C,\N,\N,5/46,Benign,\N,intron_variant,2.037,0.0151,1KG_AFR_AF,OTOF
431187,2:26728719:G>T,NM_194248.2:c.510-2006C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.596,0.0008,1KG_AFR_AF,OTOF
431188,2:26728728:A>T,NM_194248.2:c.510-2015T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.087,0.001,1KG_SAS_AF,OTOF
431189,2:26728768:AG>A,NM_194248.2:c.510-2056del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431190,2:26728773:C>T,NM_194248.2:c.510-2060G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.744,\N,\N,OTOF
431191,2:26728781:A>G,NM_194248.2:c.510-2068T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.72,0.0015,1KG_AFR_AF,OTOF
431192,2:26728788:C>T,NM_194248.2:c.510-2075G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.027,0.001,1KG_EAS_AF,OTOF
431193,2:26728794:C>T,NM_194248.2:c.510-2081G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.454,\N,\N,OTOF
431194,2:26728797:C>A,NM_194248.2:c.510-2084G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.982,\N,\N,OTOF
431195,2:26728814:G>T,NM_194248.2:c.510-2101C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.515,0.0008,1KG_AFR_AF,OTOF
431196,2:26728816:C>T,NM_194248.2:c.510-2103G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.364,\N,\N,OTOF
431197,2:26728862:A>G,NM_194248.2:c.510-2149T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.99,0.002,1KG_SAS_AF,OTOF
431198,2:26728869:C>T,NM_194248.2:c.510-2156G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.133,0.001,1KG_SAS_AF,OTOF
431199,2:26728883:G>A,NM_194248.2:c.510-2170C>T,\N,\N,5/46,Benign,\N,intron_variant,1.3,0.0492,1KG_AFR_AF,OTOF
431200,2:26728921:C>A,NM_194248.2:c.510-2208G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.527,\N,\N,OTOF
431201,2:26728934:G>A,NM_194248.2:c.510-2221C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.295,0.001,1KG_SAS_AF,OTOF
431202,2:26728937:G>A,NM_194248.2:c.510-2224C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,8.301,\N,\N,OTOF
431203,2:26728964:G>C,NM_194248.2:c.510-2251C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.622,\N,\N,OTOF
431204,2:26728969:G>A,NM_194248.2:c.510-2256C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.169,0.001,1KG_EAS_AF,OTOF
431205,2:26729011:G>A,NM_194248.2:c.510-2298C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.108,\N,\N,OTOF
431206,2:26729054:T>C,NM_194248.2:c.510-2341A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.613,0.0014,1KG_AMR_AF,OTOF
431207,2:26729059:G>A,NM_194248.2:c.510-2346C>T,\N,\N,5/46,Benign,\N,intron_variant,1.744,0.0053,1KG_AFR_AF,OTOF
431208,2:26729070:C>T,NM_194248.2:c.510-2357G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.555,\N,\N,OTOF
431209,2:26729100:T>TA,NM_194248.2:c.510-2388_510-2387insT,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431210,2:26729128:G>T,NM_194248.2:c.510-2415C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.676,\N,\N,OTOF
431211,2:26729139:C>T,NM_194248.2:c.510-2426G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.392,0.001,1KG_EAS_AF,OTOF
431212,2:26729140:G>A,NM_194248.2:c.510-2427C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.108,\N,\N,OTOF
431213,2:26729207:C>A,NM_194248.2:c.510-2494G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.359,\N,\N,OTOF
431214,2:26729208:C>T,NM_194248.2:c.510-2495G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.3,0.0015,1KG_AFR_AF,OTOF
431215,2:26729229:T>C,NM_194248.2:c.510-2516A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.188,0.0015,1KG_AFR_AF,OTOF
431216,2:26729241:T>G,NM_194248.2:c.510-2528A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.919,0.002,1KG_EUR_AF,OTOF
431217,2:26729242:T>G,NM_194248.2:c.510-2529A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.375,0.001,1KG_EAS_AF,OTOF
431218,2:26729341:C>T,NM_194248.2:c.510-2628G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.77,0.001,1KG_EAS_AF,OTOF
431219,2:26729352:G>A,NM_194248.2:c.510-2639C>T,\N,\N,5/46,Benign,\N,intron_variant,0.165,0.0187,1KG_AMR_AF,OTOF
431220,2:26729359:C>T,NM_194248.2:c.510-2646G>A,\N,\N,5/46,Benign,\N,intron_variant,0.974,0.495,1KG_EAS_AF,OTOF
431221,2:26729360:G>A,NM_194248.2:c.510-2647C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.105,0.001,1KG_EUR_AF,OTOF
431222,2:26729371:A>T,NM_194248.2:c.510-2658T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.506,0.0045,1KG_AFR_AF,OTOF
431223,2:26729397:C>T,NM_194248.2:c.510-2684G>A,\N,\N,5/46,Benign,\N,intron_variant,7.939,0.0109,1KG_EUR_AF,OTOF
431224,2:26729399:C>T,NM_194248.2:c.510-2686G>A,\N,\N,5/46,Benign,\N,intron_variant,1.468,0.0106,1KG_AFR_AF,OTOF
431225,2:26729400:G>C,NM_194248.2:c.510-2687C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.275,\N,\N,OTOF
431226,2:26729521:T>G,NM_194248.2:c.510-2808A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,4.963,0.0014,1KG_AMR_AF,OTOF
431227,2:26729540:A>T,NM_194248.2:c.510-2827T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.61,\N,\N,OTOF
431228,2:26729541:GA>G,NM_194248.2:c.510-2829del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431229,2:26729572:A>T,NM_194248.2:c.510-2859T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.457,\N,\N,OTOF
431230,2:26729575:A>G,NM_194248.2:c.510-2862T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.689,\N,\N,OTOF
431231,2:26729590:C>T,NM_194248.2:c.510-2877G>A,\N,\N,5/46,Benign,\N,intron_variant,0.241,0.0106,1KG_AFR_AF,OTOF
431232,2:26729595:C>T,NM_194248.2:c.510-2882G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.346,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
431233,2:26729599:G>A,NM_194248.2:c.510-2886C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.433,\N,\N,OTOF
431234,2:26729602:T>C,NM_194248.2:c.510-2889A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.824,0.002,1KG_SAS_AF,OTOF
431235,2:26729624:T>C,NM_194248.2:c.510-2911A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.774,\N,\N,OTOF
431236,2:26729625:TG>T,NM_194248.2:c.510-2913del,\N,\N,5/46,Unknown significance,\N,intron_variant,5.484,0.0031,1KG_SAS_AF,OTOF
431237,2:26729629:AG>A,NM_194248.2:c.510-2917del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431238,2:26729634:G>A,NM_194248.2:c.510-2921C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.93,0.001,1KG_EUR_AF,OTOF
431239,2:26729646:T>A,NM_194248.2:c.510-2933A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.445,0.003,1KG_EAS_AF,OTOF
431240,2:26729654:G>C,NM_194248.2:c.510-2941C>G,\N,\N,5/46,Benign,\N,intron_variant,0.713,0.0166,1KG_AFR_AF,OTOF
431241,2:26729687:G>A,NM_194248.2:c.510-2974C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.014,\N,\N,OTOF
431242,2:26729696:C>T,NM_194248.2:c.510-2983G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.133,0.0008,1KG_AFR_AF,OTOF
431243,2:26729703:A>G,NM_194248.2:c.510-2990T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.371,0.001,1KG_SAS_AF,OTOF
431244,2:26729733:C>A,NM_194248.2:c.510-3020G>T,\N,\N,5/46,Benign,\N,intron_variant,1.036,0.0109,1KG_EAS_AF,OTOF
431245,2:26729733:C>T,NM_194248.2:c.510-3020G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.843,\N,\N,OTOF
431246,2:26729751:C>T,NM_194248.2:c.510-3038G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.089,0.001,1KG_EAS_AF,OTOF
431247,2:26729771:A>G,NM_194248.2:c.510-3058T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.054,\N,\N,OTOF
431248,2:26729773:C>A,NM_194248.2:c.510-3060G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.09,0.001,1KG_EAS_AF,OTOF
431249,2:26729780:A>G,NM_194248.2:c.510-3067T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.831,\N,\N,OTOF
431250,2:26729790:G>A,NM_194248.2:c.510-3077C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.341,0.001,1KG_EAS_AF,OTOF
431251,2:26729799:A>C,NM_194248.2:c.510-3086T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.388,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
431252,2:26729808:C>A,NM_194248.2:c.510-3095G>T,\N,\N,5/46,Benign,\N,intron_variant,0.293,0.8849,1KG_EAS_AF,OTOF
431253,2:26729813:G>A,NM_194248.2:c.510-3100C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.237,0.002,1KG_EAS_AF,OTOF
431254,2:26729825:T>C,NM_194248.2:c.510-3112A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.021,0.001,1KG_EUR_AF,OTOF
431255,2:26729923:A>G,NM_194248.2:c.510-3210T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.044,0.001,1KG_EAS_AF,OTOF
431256,2:26729945:C>T,NM_194248.2:c.510-3232G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.963,0.001,1KG_SAS_AF,OTOF
431257,2:26729946:C>A,NM_194248.2:c.510-3233G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.44,\N,\N,OTOF
431258,2:26729951:A>T,NM_194248.2:c.510-3238T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.721,0.004,1KG_EAS_AF,OTOF
431259,2:26729954:G>A,NM_194248.2:c.510-3241C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.765,\N,\N,OTOF
431260,2:26729985:G>A,NM_194248.2:c.510-3272C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.517,0.0014,1KG_AMR_AF,OTOF
431261,2:26730006:T>C,NM_194248.2:c.510-3293A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.397,0.001,1KG_SAS_AF,OTOF
431262,2:26730027:T>G,NM_194248.2:c.510-3314A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.015,\N,\N,OTOF
431263,2:26730042:A>G,NM_194248.2:c.510-3329T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,13.31,\N,\N,OTOF
431264,2:26730055:T>C,NM_194248.2:c.510-3342A>G,\N,\N,5/46,Benign,\N,intron_variant,15.7,0.0197,1KG_AFR_AF,OTOF
431265,2:26730060:T>C,NM_194248.2:c.510-3347A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,14.76,\N,\N,OTOF
431266,2:26730065:G>T,NM_194248.2:c.510-3352C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,12.59,0.001,1KG_EUR_AF,OTOF
431267,2:26730108:T>G,NM_194248.2:c.510-3395A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.398,0.0031,1KG_SAS_AF,OTOF
431268,2:26730117:A>C,NM_194248.2:c.510-3404T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.72,\N,\N,OTOF
431269,2:26730155:C>T,NM_194248.2:c.510-3442G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.401,0.001,1KG_EUR_AF,OTOF
431270,2:26730191:C>A,NM_194248.2:c.510-3478G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.999,\N,\N,OTOF
431271,2:26730208:A>G,NM_194248.2:c.510-3495T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.173,0.001,1KG_EUR_AF,OTOF
431272,2:26730224:A>G,NM_194248.2:c.510-3511T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.886,\N,\N,OTOF
431273,2:26730229:C>G,NM_194248.2:c.510-3516G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.372,0.001,1KG_EAS_AF,OTOF
431274,2:26730263:A>G,NM_194248.2:c.510-3550T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.992,0.001,1KG_EAS_AF,OTOF
431275,2:26730272:C>CT,NM_194248.2:c.510-3560_510-3559insA,\N,\N,5/46,Unknown significance,\N,intron_variant,6.878,\N,\N,OTOF
431276,2:26730284:G>A,NM_194248.2:c.510-3571C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,8.101,\N,\N,OTOF
431277,2:26730300:G>T,NM_194248.2:c.510-3587C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.677,0.001,1KG_EAS_AF,OTOF
431278,2:26730316:G>T,NM_194248.2:c.510-3603C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.072,\N,\N,OTOF
431279,2:26730336:T>C,NM_194248.2:c.510-3623A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.17,0.0014,1KG_AMR_AF,OTOF
431280,2:26730342:A>T,NM_194248.2:c.510-3629T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.197,0.002,1KG_EAS_AF,OTOF
431281,2:26730430:G>C,NM_194248.2:c.510-3717C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.15,\N,\N,OTOF
431282,2:26730441:C>T,NM_194248.2:c.510-3728G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.936,0.0015,1KG_AFR_AF,OTOF
431283,2:26730459:T>A,NM_194248.2:c.510-3746A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,10.41,\N,\N,OTOF
431284,2:26730521:C>G,NM_194248.2:c.510-3808G>C,\N,\N,5/46,Benign,\N,intron_variant,2.118,0.3343,1KG_EAS_AF,OTOF
431285,2:26730563:T>C,NM_194248.2:c.510-3850A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.883,0.002,1KG_EUR_AF,OTOF
431286,2:26730580:G>C,NM_194248.2:c.510-3867C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.455,\N,\N,OTOF
431287,2:26730587:G>A,NM_194248.2:c.510-3874C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.149,0.0008,1KG_AFR_AF,OTOF
431288,2:26730644:G>A,NM_194248.2:c.510-3931C>T,\N,\N,5/46,Benign,\N,intron_variant,3.215,0.0083,1KG_AFR_AF,OTOF
431289,2:26730658:C>A,NM_194248.2:c.510-3945G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.458,0.0014,1KG_AMR_AF,OTOF
431290,2:26730667:T>A,NM_194248.2:c.510-3954A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.12,\N,\N,OTOF
431291,2:26730685:C>T,NM_194248.2:c.510-3972G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.157,0.001,1KG_EAS_AF,OTOF
431292,2:26730689:C>T,NM_194248.2:c.510-3976G>A,\N,\N,5/46,Benign,\N,intron_variant,1.258,0.0169,1KG_EUR_AF,OTOF
431293,2:26730719:A>C,NM_194248.2:c.510-4006T>G,\N,\N,5/46,Benign,\N,intron_variant,1.901,0.025,1KG_AFR_AF,OTOF
431294,2:26730729:A>T,NM_194248.2:c.510-4016T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,7.233,\N,\N,OTOF
431295,2:26730754:A>G,NM_194248.2:c.510-4041T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.073,\N,\N,OTOF
431296,2:26730774:G>A,NM_194248.2:c.510-4061C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.608,0.004,1KG_EAS_AF,OTOF
431297,2:26730795:TA>T,NM_194248.2:c.510-4083del,\N,\N,5/46,Unknown significance,\N,intron_variant,6.286,0.0015,1KG_AFR_AF,OTOF
431298,2:26730819:A>AC,NM_194248.2:c.510-4107dup,\N,\N,5/46,Unknown significance,\N,intron_variant,0.991,\N,\N,OTOF
431299,2:26730871:C>CA,NM_194248.2:c.510-4159dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431300,2:26730873:A>T,NM_194248.2:c.510-4160T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.09,0.001,1KG_SAS_AF,OTOF
431301,2:26730875:C>A,NM_194248.2:c.510-4162G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,9.924,0.001,1KG_EAS_AF,OTOF
431302,2:26730886:G>A,NM_194248.2:c.510-4173C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,8.968,0.0008,1KG_AFR_AF,OTOF
431303,2:26730891:G>A,NM_194248.2:c.510-4178C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.448,0.0008,1KG_AFR_AF,OTOF
431304,2:26730910:G>A,NM_194248.2:c.510-4197C>T,\N,\N,5/46,Benign,\N,intron_variant,2.852,0.0053,1KG_AFR_AF,OTOF
431305,2:26730912:C>A,NM_194248.2:c.510-4199G>T,\N,\N,5/46,Benign,\N,intron_variant,4.91,0.0318,1KG_AFR_AF,OTOF
431306,2:26730931:C>T,NM_194248.2:c.510-4218G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.812,0.002,1KG_EUR_AF,OTOF
431307,2:26730966:G>T,NM_194248.2:c.510-4253C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.473,\N,\N,OTOF
431308,2:26731027:C>T,NM_194248.2:c.510-4314G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,14.58,0.002,1KG_EAS_AF,OTOF
431309,2:26731056:G>A,NM_194248.2:c.510-4343C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.897,0.001,1KG_SAS_AF,OTOF
431310,2:26731087:T>A,NM_194248.2:c.510-4374A>T,\N,\N,5/46,Benign,\N,intron_variant,6.787,0.8224,1KG_EAS_AF,OTOF
431311,2:26731100:T>C,NM_194248.2:c.510-4387A>G,\N,\N,5/46,Benign,\N,intron_variant,2.651,0.0409,1KG_SAS_AF,OTOF
431312,2:26731122:AT>A,NM_194248.2:c.510-4410del,\N,\N,5/46,Unknown significance,\N,intron_variant,1.014,\N,\N,OTOF
431313,2:26731135:C>T,NM_194248.2:c.510-4422G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.347,\N,\N,OTOF
431314,2:26731154:G>A,NM_194248.2:c.510-4441C>T,\N,\N,5/46,Benign,\N,intron_variant,0.113,0.0098,1KG_AFR_AF,OTOF
431315,2:26731174:T>A,NM_194248.2:c.510-4461A>T,\N,\N,5/46,Benign,\N,intron_variant,1.086,0.0121,1KG_AFR_AF,OTOF
431316,2:26731211:T>C,NM_194248.2:c.510-4498A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.801,0.0008,1KG_AFR_AF,OTOF
431317,2:26731217:T>C,NM_194248.2:c.510-4504A>G,\N,\N,5/46,Benign,\N,intron_variant,2.493,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
431318,2:26731231:G>A,NM_194248.2:c.510-4518C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.94,\N,\N,OTOF
431319,2:26731237:G>A,NM_194248.2:c.510-4524C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.268,0.001,1KG_EUR_AF,OTOF
431320,2:26731244:T>C,NM_194248.2:c.510-4531A>G,\N,\N,5/46,Benign,\N,intron_variant,0.507,0.6643,1KG_AMR_AF,OTOF
431321,2:26731268:A>G,NM_194248.2:c.510-4555T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.497,0.001,1KG_EAS_AF,OTOF
431322,2:26731289:G>C,NM_194248.2:c.510-4576C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.087,\N,\N,OTOF
431323,2:26731337:C>T,NM_194248.2:c.510-4624G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,7.012,\N,\N,OTOF
431324,2:26731338:G>A,NM_194248.2:c.510-4625C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.815,\N,\N,OTOF
431325,2:26731356:G>A,NM_194248.2:c.510-4643C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.979,0.001,1KG_SAS_AF,OTOF
431326,2:26731385:C>A,NM_194248.2:c.510-4672G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.254,\N,\N,OTOF
431327,2:26731393:T>G,NM_194248.2:c.510-4680A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.888,\N,\N,OTOF
431328,2:26731425:C>T,NM_194248.2:c.510-4712G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.46,\N,\N,OTOF
431329,2:26731442:G>A,NM_194248.2:c.510-4729C>T,\N,\N,5/46,Benign,\N,intron_variant,1.676,0.4697,1KG_AMR_AF,OTOF
431330,2:26731464:A>G,NM_194248.2:c.510-4751T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.609,\N,\N,OTOF
431331,2:26731470:G>A,NM_194248.2:c.510-4757C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.53,0.0008,1KG_AFR_AF,OTOF
431332,2:26731484:G>A,NM_194248.2:c.510-4771C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.746,0.0008,1KG_AFR_AF,OTOF
431333,2:26731529:T>C,NM_194248.2:c.510-4816A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,7.453,\N,\N,OTOF
431334,2:26731594:T>C,NM_194248.2:c.510-4881A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.389,0.0008,1KG_AFR_AF,OTOF
431335,2:26731621:A>G,NM_194248.2:c.510-4908T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,10.91,\N,\N,OTOF
431336,2:26731626:A>G,NM_194248.2:c.510-4913T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,10.6,0.0014,1KG_AMR_AF,OTOF
431337,2:26731633:T>C,NM_194248.2:c.510-4920A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,6.896,\N,\N,OTOF
431338,2:26731637:A>C,NM_194248.2:c.510-4924T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,8.048,\N,\N,OTOF
431339,2:26731670:T>C,NM_194248.2:c.510-4957A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.935,\N,\N,OTOF
431340,2:26731694:T>A,NM_194248.2:c.510-4981A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.031,0.003,1KG_EAS_AF,OTOF
431341,2:26731734:C>T,NM_194248.2:c.510-5021G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.3,\N,\N,OTOF
431342,2:26731743:C>T,NM_194248.2:c.510-5030G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.635,0.001,1KG_SAS_AF,OTOF
431343,2:26731768:C>T,NM_194248.2:c.510-5055G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.356,\N,\N,OTOF
431344,2:26731769:C>T,NM_194248.2:c.510-5056G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.492,\N,\N,OTOF
431345,2:26731789:A>G,NM_194248.2:c.510-5076T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.562,0.0014,1KG_AMR_AF,OTOF
431346,2:26731806:T>G,NM_194248.2:c.510-5093A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.142,\N,\N,OTOF
431347,2:26731834:T>C,NM_194248.2:c.510-5121A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.512,0.0014,1KG_AMR_AF,OTOF
431348,2:26731861:G>C,NM_194248.2:c.510-5148C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.561,0.0008,1KG_AFR_AF,OTOF
431349,2:26731925:C>T,NM_194248.2:c.510-5212G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,8.468,0.001,1KG_EUR_AF,OTOF
431350,2:26731974:G>C,NM_194248.2:c.510-5261C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.67,0.002,1KG_EAS_AF,OTOF
431351,2:26732026:T>C,NM_194248.2:c.510-5313A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.955,0.001,1KG_EAS_AF,OTOF
431352,2:26732069:G>A,NM_194248.2:c.510-5356C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.463,0.001,1KG_EAS_AF,OTOF
431353,2:26732105:A>G,NM_194248.2:c.510-5392T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.568,0.0014,1KG_AMR_AF,OTOF
431354,2:26732122:CTTGAG>C,NM_194248.2:c.510-5414_510-5410del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431355,2:26732129:AC>A,NM_194248.2:c.510-5417del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431356,2:26732161:C>T,NM_194248.2:c.510-5448G>A,\N,\N,5/46,Benign,\N,intron_variant,3.516,0.028,1KG_AFR_AF,OTOF
431357,2:26732178:C>T,NM_194248.2:c.510-5465G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.21,0.0008,1KG_AFR_AF,OTOF
431358,2:26732226:C>T,NM_194248.2:c.510-5513G>A,\N,\N,5/46,Benign,\N,intron_variant,0.222,0.006,1KG_EUR_AF,OTOF
431359,2:26732227:G>A,NM_194248.2:c.510-5514C>T,\N,\N,5/46,Benign,\N,intron_variant,0.965,0.1029,1KG_AFR_AF,OTOF
431360,2:26732234:C>G,NM_194248.2:c.510-5521G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.087,0.001,1KG_SAS_AF,OTOF
431361,2:26732246:A>T,NM_194248.2:c.510-5533T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,9.607,\N,\N,OTOF
431362,2:26732247:C>T,NM_194248.2:c.510-5534G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,10.75,\N,\N,OTOF
431363,2:26732283:G>T,NM_194248.2:c.510-5570C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,8.226,0.001,1KG_EUR_AF,OTOF
431364,2:26732299:A>G,NM_194248.2:c.510-5586T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.771,0.0014,1KG_AMR_AF,OTOF
431365,2:26732319:T>C,NM_194248.2:c.510-5606A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.07,0.001,1KG_EAS_AF,OTOF
431366,2:26732330:C>T,NM_194248.2:c.510-5617G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.371,\N,\N,OTOF
431367,2:26732336:A>G,NM_194248.2:c.510-5623T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.018,\N,\N,OTOF
431368,2:26732343:T>C,NM_194248.2:c.510-5630A>G,\N,\N,5/46,Benign,\N,intron_variant,1.201,0.0199,1KG_EUR_AF,OTOF
431369,2:26732359:G>A,NM_194248.2:c.510-5646C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.107,\N,\N,OTOF
431370,2:26732359:G>T,NM_194248.2:c.510-5646C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.033,0.001,1KG_SAS_AF,OTOF
431371,2:26732369:C>G,NM_194248.2:c.510-5656G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.568,0.0041,1KG_SAS_AF,OTOF
431372,2:26732369:C>T,NM_194248.2:c.510-5656G>A,\N,\N,5/46,Benign,\N,intron_variant,1.118,0.0327,1KG_SAS_AF,OTOF
431373,2:26732372:G>A,NM_194248.2:c.510-5659C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.117,\N,\N,OTOF
431374,2:26732390:T>C,NM_194248.2:c.510-5677A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.677,\N,\N,OTOF
431375,2:26732406:G>C,NM_194248.2:c.510-5693C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.41,\N,\N,OTOF
431376,2:26732495:C>T,NM_194248.2:c.510-5782G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.341,\N,\N,OTOF
431377,2:26732509:A>G,NM_194248.2:c.510-5796T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.703,\N,\N,OTOF
431378,2:26732598:G>A,NM_194248.2:c.510-5885C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.088,0.002,1KG_EAS_AF,OTOF
431379,2:26732610:G>A,NM_194248.2:c.510-5897C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.812,\N,\N,OTOF
431380,2:26732623:G>C,NM_194248.2:c.510-5910C>G,\N,\N,5/46,Benign,\N,intron_variant,3.106,0.0099,1KG_EUR_AF,OTOF
431381,2:26732637:A>G,NM_194248.2:c.510-5924T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.548,0.0008,1KG_AFR_AF,OTOF
431382,2:26732697:G>T,NM_194248.2:c.510-5984C>A,\N,\N,5/46,Benign,\N,intron_variant,1.629,0.3304,1KG_EAS_AF,OTOF
431383,2:26732702:A>G,NM_194248.2:c.510-5989T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.272,0.001,1KG_SAS_AF,OTOF
431384,2:26732705:G>T,NM_194248.2:c.510-5992C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.95,0.001,1KG_EAS_AF,OTOF
431385,2:26732732:C>T,NM_194248.2:c.510-6019G>A,\N,\N,5/46,Benign,\N,intron_variant,2.799,0.487,1KG_AMR_AF,OTOF
431386,2:26732769:C>G,NM_194248.2:c.510-6056G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,9.468,0.001,1KG_SAS_AF,OTOF
431387,2:26732803:G>A,NM_194248.2:c.510-6090C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.815,\N,\N,OTOF
431388,2:26732815:A>G,NM_194248.2:c.510-6102T>C,\N,\N,5/46,Benign,\N,intron_variant,3.615,0.0257,1KG_AFR_AF,OTOF
431389,2:26732847:T>C,NM_194248.2:c.510-6134A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.978,0.0008,1KG_AFR_AF,OTOF
431390,2:26732856:G>A,NM_194248.2:c.510-6143C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.468,0.0008,1KG_AFR_AF,OTOF
431391,2:26732869:C>A,NM_194248.2:c.510-6156G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.2,0.0008,1KG_AFR_AF,OTOF
431392,2:26732883:T>C,NM_194248.2:c.510-6170A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.87,0.001,1KG_SAS_AF,OTOF
431393,2:26732886:G>A,NM_194248.2:c.510-6173C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.609,0.001,1KG_EAS_AF,OTOF
431394,2:26732930:C>T,NM_194248.2:c.510-6217G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.335,0.0031,1KG_SAS_AF,OTOF
431395,2:26732931:G>T,NM_194248.2:c.510-6218C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.533,0.001,1KG_EAS_AF,OTOF
431396,2:26732942:G>C,NM_194248.2:c.510-6229C>G,\N,\N,5/46,Benign,\N,intron_variant,1.375,0.4798,1KG_AMR_AF,OTOF
431397,2:26732985:G>T,NM_194248.2:c.510-6272C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.093,0.001,1KG_SAS_AF,OTOF
431398,2:26732988:C>T,NM_194248.2:c.510-6275G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.73,\N,\N,OTOF
431399,2:26733002:C>T,NM_194248.2:c.509+6284G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.384,0.001,1KG_SAS_AF,OTOF
431400,2:26733056:G>A,NM_194248.2:c.509+6230C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.092,\N,\N,OTOF
431401,2:26733057:C>T,NM_194248.2:c.509+6229G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.519,0.0014,1KG_AMR_AF,OTOF
431402,2:26733090:G>A,NM_194248.2:c.509+6196C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.764,\N,\N,OTOF
431403,2:26733092:C>G,NM_194248.2:c.509+6194G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,4.144,\N,\N,OTOF
431404,2:26733107:C>T,NM_194248.2:c.509+6179G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.078,0.003,1KG_EAS_AF,OTOF
431405,2:26733111:C>CTGCA,NM_194248.2:c.509+6171_509+6174dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431406,2:26733125:G>C,NM_194248.2:c.509+6161C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.014,0.0014,1KG_AMR_AF,OTOF
431407,2:26733178:C>G,NM_194248.2:c.509+6108G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.883,\N,\N,OTOF
431408,2:26733212:C>T,NM_194248.2:c.509+6074G>A,\N,\N,5/46,Benign,\N,intron_variant,2.416,0.0318,1KG_AFR_AF,OTOF
431409,2:26733238:C>T,NM_194248.2:c.509+6048G>A,\N,\N,5/46,Benign,\N,intron_variant,5.271,0.2784,1KG_AFR_AF,OTOF
431410,2:26733251:G>A,NM_194248.2:c.509+6035C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,10.93,0.001,1KG_SAS_AF,OTOF
431411,2:26733256:C>A,NM_194248.2:c.509+6030G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.311,\N,\N,OTOF
431412,2:26733256:C>T,NM_194248.2:c.509+6030G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.074,0.0029,1KG_AMR_AF,OTOF
431413,2:26733258:C>T,NM_194248.2:c.509+6028G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.015,\N,\N,OTOF
431414,2:26733263:G>A,NM_194248.2:c.509+6023C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.485,0.001,1KG_SAS_AF,OTOF
431415,2:26733307:AGAG>A,NM_194248.2:c.509+5976_509+5978del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431416,2:26733314:G>A,NM_194248.2:c.509+5972C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.449,0.0014,1KG_AMR_AF,OTOF
431417,2:26733326:C>T,NM_194248.2:c.509+5960G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.306,0.002,1KG_SAS_AF,OTOF
431418,2:26733327:G>A,NM_194248.2:c.509+5959C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.717,0.001,1KG_SAS_AF,OTOF
431419,2:26733367:C>G,NM_194248.2:c.509+5919G>C,\N,\N,5/46,Benign,\N,intron_variant,0.217,0.0242,1KG_AFR_AF,OTOF
431420,2:26733369:G>A,NM_194248.2:c.509+5917C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.531,\N,\N,OTOF
431421,2:26733369:G>C,NM_194248.2:c.509+5917C>G,\N,\N,5/46,Benign,\N,intron_variant,0.598,0.1286,1KG_AFR_AF,OTOF
431422,2:26733370:C>T,NM_194248.2:c.509+5916G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.181,0.001,1KG_EAS_AF,OTOF
431423,2:26733397:C>A,NM_194248.2:c.509+5889G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.267,\N,\N,OTOF
431424,2:26733400:C>T,NM_194248.2:c.509+5886G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.097,0.002,1KG_SAS_AF,OTOF
431425,2:26733440:G>A,NM_194248.2:c.509+5846C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.106,0.0041,1KG_SAS_AF,OTOF
431426,2:26733456:G>A,NM_194248.2:c.509+5830C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.856,0.0015,1KG_AFR_AF,OTOF
431427,2:26733458:C>G,NM_194248.2:c.509+5828G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.935,0.001,1KG_EAS_AF,OTOF
431428,2:26733483:C>T,NM_194248.2:c.509+5803G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.525,0.0014,1KG_AMR_AF,OTOF
431429,2:26733487:C>A,NM_194248.2:c.509+5799G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.439,0.0008,1KG_AFR_AF,OTOF
431430,2:26733494:C>T,NM_194248.2:c.509+5792G>A,\N,\N,5/46,Benign,\N,intron_variant,7.661,0.0198,1KG_EAS_AF,OTOF
431431,2:26733498:C>T,NM_194248.2:c.509+5788G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.366,0.001,1KG_EUR_AF,OTOF
431432,2:26733500:C>T,NM_194248.2:c.509+5786G>A,\N,\N,5/46,Benign,\N,intron_variant,6.642,0.8244,1KG_EAS_AF,OTOF
431433,2:26733502:A>C,NM_194248.2:c.509+5784T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.833,\N,\N,OTOF
431434,2:26733510:T>C,NM_194248.2:c.509+5776A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.262,0.0014,1KG_AMR_AF,OTOF
431435,2:26733525:T>C,NM_194248.2:c.509+5761A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.217,0.00179211,EXAC_AFR_AF,OTOF
431436,2:26733539:C>G,NM_194248.2:c.509+5747G>C,\N,\N,5/46,Benign,\N,intron_variant,0.685,0.0057963,EXAC_SAS_AF,OTOF
431437,2:26733540:G>A,NM_194248.2:c.509+5746C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.541,0.000289017,EXAC_NFE_AF,OTOF
431438,2:26733544:T>C,NM_194248.2:c.509+5742A>G,\N,\N,5/46,Benign,\N,intron_variant,3.229,0.1036,1KG_AFR_AF,OTOF
431439,2:26733544:TT>CC,NM_194248.2:c.509+5741_509+5742delinsGG,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431440,2:26733545:T>C,NM_194248.2:c.509+5741A>G,\N,\N,5/46,Benign,\N,intron_variant,0.785,0.1036,1KG_AFR_AF,OTOF
431441,2:26733547:C>T,NM_194248.2:c.509+5739G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.235,0.0031,1KG_SAS_AF,OTOF
431442,2:26733557:C>T,NM_194248.2:c.509+5729G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,13.5,\N,\N,OTOF
431443,2:26733558:G>A,NM_194248.2:c.509+5728C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,13.93,0.0031,1KG_SAS_AF,OTOF
431444,2:26733558:G>C,NM_194248.2:c.509+5728C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,12.03,0.000134698,EXAC_SAS_AF,OTOF
431445,2:26733568:C>T,NM_194248.2:c.509+5718G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,22,0.000282646,EXAC_NFE_AF,OTOF
431446,2:26733578:CT>C,NM_194248.2:c.509+5707del,\N,\N,5/46,Unknown significance,\N,intron_variant,19.91,\N,\N,OTOF
431447,2:26733584:A>G,NM_194248.2:c.509+5702T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,20.9,0.000280584,EXAC_NFE_AF,OTOF
431448,2:26733604:T>C,NM_194248.2:c.509+5682A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,20.8,\N,\N,OTOF
431449,2:26733622:G>A,NM_194248.2:c.509+5664C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,18.33,\N,\N,OTOF
431450,2:26733623:T>C,NM_194248.2:c.509+5663A>G,\N,\N,5/46,Benign,\N,intron_variant,16.17,0.00545455,EXAC_AFR_AF,OTOF
431451,2:26733625:G>A,NM_194248.2:c.509+5661C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,9.717,\N,\N,OTOF
431452,2:26733654:C>T,NM_194248.2:c.509+5632G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.921,0.000138696,EXAC_SAS_AF,OTOF
431453,2:26733655:G>A,NM_194248.2:c.509+5631C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.39,0.00146628,EXAC_NFE_AF,OTOF
431454,2:26733664:G>T,NM_194248.2:c.509+5622C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.315,\N,\N,OTOF
431455,2:26733677:G>A,NM_194248.2:c.509+5609C>T,\N,\N,5/46,Benign,\N,intron_variant,11.46,0.4921,1KG_EAS_AF,OTOF
431456,2:26733695:G>A,NM_194248.2:c.509+5591C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.242,0.001,1KG_EAS_AF,OTOF
431457,2:26733702:C>A,NM_194248.2:c.509+5584G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.463,0.0014,1KG_AMR_AF,OTOF
431458,2:26733705:G>A,NM_194248.2:c.509+5581C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.648,\N,\N,OTOF
431459,2:26733713:G>A,NM_194248.2:c.509+5573C>T,\N,\N,5/46,Benign,\N,intron_variant,0.784,0.1036,1KG_AFR_AF,OTOF
431460,2:26733764:C>T,NM_194248.2:c.509+5522G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.796,\N,\N,OTOF
431461,2:26733833:G>A,NM_194248.2:c.509+5453C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.209,\N,\N,OTOF
431462,2:26733864:A>G,NM_194248.2:c.509+5422T>C,\N,\N,5/46,Benign,\N,intron_variant,0.816,0.1036,1KG_AFR_AF,OTOF
431463,2:26733869:A>T,NM_194248.2:c.509+5417T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.997,0.002,1KG_SAS_AF,OTOF
431464,2:26733870:A>G,NM_194248.2:c.509+5416T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.779,0.0008,1KG_AFR_AF,OTOF
431465,2:26733884:T>A,NM_194248.2:c.509+5402A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.968,\N,\N,OTOF
431466,2:26733885:ACCTCAGG>A,NM_194248.2:c.509+5394_509+5400del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431467,2:26733905:C>T,NM_194248.2:c.509+5381G>A,\N,\N,5/46,Benign,\N,intron_variant,6.986,0.0102,1KG_SAS_AF,OTOF
431468,2:26733906:G>A,NM_194248.2:c.509+5380C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.911,0.001,1KG_EUR_AF,OTOF
431469,2:26733945:G>A,NM_194248.2:c.509+5341C>T,\N,\N,5/46,Benign,\N,intron_variant,2.602,0.0582,1KG_AFR_AF,OTOF
431470,2:26733947:C>T,NM_194248.2:c.509+5339G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.671,0.0023,1KG_AFR_AF,OTOF
431471,2:26733948:G>A,NM_194248.2:c.509+5338C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.175,\N,\N,OTOF
431472,2:26733994:C>G,NM_194248.2:c.509+5292G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.908,0.001,1KG_EAS_AF,OTOF
431473,2:26734014:C>A,NM_194248.2:c.509+5272G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,11.13,0.001,1KG_EAS_AF,OTOF
431474,2:26734025:C>T,NM_194248.2:c.509+5261G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.059,0.0008,1KG_AFR_AF,OTOF
431475,2:26734026:G>A,NM_194248.2:c.509+5260C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.092,0.0008,1KG_AFR_AF,OTOF
431476,2:26734026:GGCTCCCCT>G,NM_194248.2:c.509+5252_509+5259del,\N,\N,5/46,Benign,\N,intron_variant,4.905,0.0328,1KG_EUR_AF,OTOF
431477,2:26734054:A>G,NM_194248.2:c.509+5232T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,8.944,0.001,1KG_SAS_AF,OTOF
431478,2:26734055:T>C,NM_194248.2:c.509+5231A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,8.214,0.001,1KG_EAS_AF,OTOF
431479,2:26734133:T>TG,NM_194248.2:c.509+5152dup,\N,\N,5/46,Unknown significance,\N,intron_variant,2.961,\N,\N,OTOF
431480,2:26734138:G>A,NM_194248.2:c.509+5148C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.497,\N,\N,OTOF
431481,2:26734140:C>T,NM_194248.2:c.509+5146G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.433,0.0023,1KG_AFR_AF,OTOF
431482,2:26734158:C>T,NM_194248.2:c.509+5128G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.949,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
431483,2:26734164:G>T,NM_194248.2:c.509+5122C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.861,0.0008,1KG_AFR_AF,OTOF
431484,2:26734170:G>C,NM_194248.2:c.509+5116C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.875,0.0041,1KG_SAS_AF,OTOF
431485,2:26734189:G>T,NM_194248.2:c.509+5097C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.019,0.0008,1KG_AFR_AF,OTOF
431486,2:26734190:T>C,NM_194248.2:c.509+5096A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,2.461,\N,\N,OTOF
431487,2:26734196:G>A,NM_194248.2:c.509+5090C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.156,0.001,1KG_SAS_AF,OTOF
431488,2:26734237:C>T,NM_194248.2:c.509+5049G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.429,\N,\N,OTOF
431489,2:26734245:C>T,NM_194248.2:c.509+5041G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.558,\N,\N,OTOF
431490,2:26734296:A>G,NM_194248.2:c.509+4990T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,7.845,\N,\N,OTOF
431491,2:26734321:A>G,NM_194248.2:c.509+4965T>C,\N,\N,5/46,Benign,\N,intron_variant,3.418,0.0051,1KG_SAS_AF,OTOF
431492,2:26734325:T>C,NM_194248.2:c.509+4961A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,9.011,\N,\N,OTOF
431493,2:26734400:G>A,NM_194248.2:c.509+4886C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.756,\N,\N,OTOF
431494,2:26734450:C>T,NM_194248.2:c.509+4836G>A,\N,\N,5/46,Benign,\N,intron_variant,3.505,0.0136,1KG_AFR_AF,OTOF
431495,2:26734469:C>T,NM_194248.2:c.509+4817G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.39,0.0008,1KG_AFR_AF,OTOF
431496,2:26734485:T>C,NM_194248.2:c.509+4801A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.804,0.001,1KG_SAS_AF,OTOF
431497,2:26734489:C>T,NM_194248.2:c.509+4797G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.277,0.0008,1KG_AFR_AF,OTOF
431498,2:26734522:G>A,NM_194248.2:c.509+4764C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.588,0.0038,1KG_AFR_AF,OTOF
431499,2:26734574:G>A,NM_194248.2:c.509+4712C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.432,0.0008,1KG_AFR_AF,OTOF
431500,2:26734592:T>G,NM_194248.2:c.509+4694A>C,\N,\N,5/46,Benign,\N,intron_variant,2.919,0.6643,1KG_AMR_AF,OTOF
431501,2:26734598:G>A,NM_194248.2:c.509+4688C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.991,\N,\N,OTOF
431502,2:26734623:C>T,NM_194248.2:c.509+4663G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.281,0.001,1KG_EUR_AF,OTOF
431503,2:26734624:C>T,NM_194248.2:c.509+4662G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.729,0.001,1KG_EAS_AF,OTOF
431504,2:26734634:C>T,NM_194248.2:c.509+4652G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.732,\N,\N,OTOF
431505,2:26734643:C>T,NM_194248.2:c.509+4643G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.139,0.001,1KG_EAS_AF,OTOF
431506,2:26734705:C>A,NM_194248.2:c.509+4581G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.903,\N,\N,OTOF
431507,2:26734727:C>T,NM_194248.2:c.509+4559G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.373,0.0014,1KG_AMR_AF,OTOF
431508,2:26734758:T>C,NM_194248.2:c.509+4528A>G,\N,\N,5/46,Benign,\N,intron_variant,3.739,0.4971,1KG_AMR_AF,OTOF
431509,2:26734797:C>T,NM_194248.2:c.509+4489G>A,\N,\N,5/46,Benign,\N,intron_variant,4.401,0.0061,1KG_SAS_AF,OTOF
431510,2:26734851:G>A,NM_194248.2:c.509+4435C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,9.444,0.0008,1KG_AFR_AF,OTOF
431511,2:26734854:C>T,NM_194248.2:c.509+4432G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.01,0.001,1KG_EAS_AF,OTOF
431512,2:26734879:AG>A,NM_194248.2:c.509+4406del,\N,\N,5/46,Benign,\N,intron_variant,8.038,0.0136,1KG_AFR_AF,OTOF
431513,2:26734901:G>T,NM_194248.2:c.509+4385C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.7,0.0008,1KG_AFR_AF,OTOF
431514,2:26734902:C>T,NM_194248.2:c.509+4384G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.249,0.003,1KG_EUR_AF,OTOF
431515,2:26734918:T>TG,NM_194248.2:c.509+4367dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431516,2:26734978:T>C,NM_194248.2:c.509+4308A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.613,0.002,1KG_EUR_AF,OTOF
431517,2:26735013:T>A,NM_194248.2:c.509+4273A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.462,0.002,1KG_SAS_AF,OTOF
431518,2:26735023:A>G,NM_194248.2:c.509+4263T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,9.99,0.001,1KG_EUR_AF,OTOF
431519,2:26735038:T>C,NM_194248.2:c.509+4248A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,12.82,\N,\N,OTOF
431520,2:26735061:C>T,NM_194248.2:c.509+4225G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.575,0.003,1KG_AFR_AF,OTOF
431521,2:26735092:C>A,NM_194248.2:c.509+4194G>T,\N,\N,5/46,Benign,\N,intron_variant,0.589,0.007,1KG_EUR_AF,OTOF
431522,2:26735093:G>T,NM_194248.2:c.509+4193C>A,\N,\N,5/46,Benign,\N,intron_variant,0.196,0.0079,1KG_EAS_AF,OTOF
431523,2:26735112:G>A,NM_194248.2:c.509+4174C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.079,0.001,1KG_EUR_AF,OTOF
431524,2:26735113:A>G,NM_194248.2:c.509+4173T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,6.882,0.001,1KG_EAS_AF,OTOF
431525,2:26735174:CCTCT>C,NM_194248.2:c.509+4108_509+4111del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431526,2:26735177:C>T,NM_194248.2:c.509+4109G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.849,0.0041,1KG_SAS_AF,OTOF
431527,2:26735199:A>G,NM_194248.2:c.509+4087T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.369,0.0014,1KG_AMR_AF,OTOF
431528,2:26735230:G>A,NM_194248.2:c.509+4056C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.614,0.0038,1KG_AFR_AF,OTOF
431529,2:26735278:G>A,NM_194248.2:c.509+4008C>T,\N,\N,5/46,Benign,\N,intron_variant,7.266,0.0061,1KG_AFR_AF,OTOF
431530,2:26735304:G>A,NM_194248.2:c.509+3982C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,7.318,0.0008,1KG_AFR_AF,OTOF
431531,2:26735312:G>C,NM_194248.2:c.509+3974C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.382,\N,\N,OTOF
431532,2:26735317:G>A,NM_194248.2:c.509+3969C>T,\N,\N,5/46,Benign,\N,intron_variant,5.008,0.0197,1KG_AFR_AF,OTOF
431533,2:26735392:T>C,NM_194248.2:c.509+3894A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,6.27,0.001,1KG_SAS_AF,OTOF
431534,2:26735409:C>T,NM_194248.2:c.509+3877G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.977,\N,\N,OTOF
431535,2:26735411:C>T,NM_194248.2:c.509+3875G>A,\N,\N,5/46,Benign,\N,intron_variant,3.736,0.0197,1KG_AFR_AF,OTOF
431536,2:26735479:G>A,NM_194248.2:c.509+3807C>T,\N,\N,5/46,Benign,\N,intron_variant,1.269,0.0098,1KG_AFR_AF,OTOF
431537,2:26735503:C>T,NM_194248.2:c.509+3783G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.333,\N,\N,OTOF
431538,2:26735508:G>A,NM_194248.2:c.509+3778C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.104,\N,\N,OTOF
431539,2:26735560:G>A,NM_194248.2:c.509+3726C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.76,0.0015,1KG_AFR_AF,OTOF
431540,2:26735565:C>T,NM_194248.2:c.509+3721G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.705,0.002,1KG_SAS_AF,OTOF
431541,2:26735593:C>T,NM_194248.2:c.509+3693G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.342,\N,\N,OTOF
431542,2:26735606:G>T,NM_194248.2:c.509+3680C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.411,0.001,1KG_SAS_AF,OTOF
431543,2:26735619:C>T,NM_194248.2:c.509+3667G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.722,0.0038,1KG_AFR_AF,OTOF
431544,2:26735624:T>A,NM_194248.2:c.509+3662A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.821,\N,\N,OTOF
431545,2:26735646:A>G,NM_194248.2:c.509+3640T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.203,\N,\N,OTOF
431546,2:26735659:A>T,NM_194248.2:c.509+3627T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.129,\N,\N,OTOF
431547,2:26735683:G>A,NM_194248.2:c.509+3603C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.916,\N,\N,OTOF
431548,2:26735722:G>T,NM_194248.2:c.509+3564C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.068,0.001,1KG_EAS_AF,OTOF
431549,2:26735789:A>AG,NM_194248.2:c.509+3496dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431550,2:26735789:AG>A,NM_194248.2:c.509+3496del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431551,2:26735793:G>A,NM_194248.2:c.509+3493C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.281,0.0008,1KG_AFR_AF,OTOF
431552,2:26735806:C>G,NM_194248.2:c.509+3480G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.61,0.0015,1KG_AFR_AF,OTOF
431553,2:26735828:G>C,NM_194248.2:c.509+3458C>G,\N,\N,5/46,Benign,\N,intron_variant,3.887,0.0537,1KG_AFR_AF,OTOF
431554,2:26735863:C>T,NM_194248.2:c.509+3423G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.266,0.002,1KG_SAS_AF,OTOF
431555,2:26735864:G>A,NM_194248.2:c.509+3422C>T,\N,\N,5/46,Benign,\N,intron_variant,2.708,0.0082,1KG_SAS_AF,OTOF
431556,2:26735884:C>T,NM_194248.2:c.509+3402G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.961,0.002,1KG_EAS_AF,OTOF
431557,2:26735902:C>T,NM_194248.2:c.509+3384G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.517,0.001,1KG_SAS_AF,OTOF
431558,2:26735906:G>T,NM_194248.2:c.509+3380C>A,\N,\N,5/46,Benign,\N,intron_variant,1.455,0.0734,1KG_AFR_AF,OTOF
431559,2:26735920:A>G,NM_194248.2:c.509+3366T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.777,\N,\N,OTOF
431560,2:26735931:T>C,NM_194248.2:c.509+3355A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,7.421,0.0008,1KG_AFR_AF,OTOF
431561,2:26735985:CAG>C,NM_194248.2:c.509+3299_509+3300del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431562,2:26736000:C>T,NM_194248.2:c.509+3286G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.006,0.0014,1KG_AMR_AF,OTOF
431563,2:26736029:C>A,NM_194248.2:c.509+3257G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.464,0.001,1KG_EUR_AF,OTOF
431564,2:26736061:T>A,NM_194248.2:c.509+3225A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.461,0.0014,1KG_AMR_AF,OTOF
431565,2:26736091:G>C,NM_194248.2:c.509+3195C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.845,\N,\N,OTOF
431566,2:26736127:A>C,NM_194248.2:c.509+3159T>G,\N,\N,5/46,Benign,\N,intron_variant,0.933,0.0174,1KG_AFR_AF,OTOF
431567,2:26736145:C>T,NM_194248.2:c.509+3141G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.065,\N,\N,OTOF
431568,2:26736171:A>G,NM_194248.2:c.509+3115T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.196,0.002,1KG_SAS_AF,OTOF
431569,2:26736171:A>T,NM_194248.2:c.509+3115T>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.88,\N,\N,OTOF
431570,2:26736183:G>A,NM_194248.2:c.509+3103C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.474,0.0008,1KG_AFR_AF,OTOF
431571,2:26736196:A>C,NM_194248.2:c.509+3090T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.921,0.002,1KG_SAS_AF,OTOF
431572,2:26736198:C>G,NM_194248.2:c.509+3088G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.093,0.0014,1KG_AMR_AF,OTOF
431573,2:26736220:G>C,NM_194248.2:c.509+3066C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.598,\N,\N,OTOF
431574,2:26736221:G>C,NM_194248.2:c.509+3065C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.877,0.003,1KG_AFR_AF,OTOF
431575,2:26736234:G>A,NM_194248.2:c.509+3052C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.012,0.001,1KG_EUR_AF,OTOF
431576,2:26736259:C>A,NM_194248.2:c.509+3027G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.783,0.001,1KG_EAS_AF,OTOF
431577,2:26736295:C>T,NM_194248.2:c.509+2991G>A,\N,\N,5/46,Benign,\N,intron_variant,1.161,0.0068,1KG_AFR_AF,OTOF
431578,2:26736296:G>A,NM_194248.2:c.509+2990C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.168,\N,\N,OTOF
431579,2:26736310:C>T,NM_194248.2:c.509+2976G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.201,0.002,1KG_EAS_AF,OTOF
431580,2:26736320:C>T,NM_194248.2:c.509+2966G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.788,\N,\N,OTOF
431581,2:26736321:C>T,NM_194248.2:c.509+2965G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.033,\N,\N,OTOF
431582,2:26736324:GGCCTGTCTGGGCTGAGGCTGTTTCCTGCC>G,NM_194248.2:c.509+2933_509+2961del,\N,\N,5/46,Benign,\N,intron_variant,1.788,0.005,1KG_EAS_AF,OTOF
431583,2:26736351:G>A,NM_194248.2:c.509+2935C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.164,\N,\N,OTOF
431584,2:26736371:C>T,NM_194248.2:c.509+2915G>A,\N,\N,5/46,Benign,\N,intron_variant,4.277,0.0109,1KG_EUR_AF,OTOF
431585,2:26736377:C>T,NM_194248.2:c.509+2909G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.288,\N,\N,OTOF
431586,2:26736419:T>C,NM_194248.2:c.509+2867A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.221,0.001,1KG_SAS_AF,OTOF
431587,2:26736424:C>G,NM_194248.2:c.509+2862G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.631,\N,\N,OTOF
431588,2:26736441:C>T,NM_194248.2:c.509+2845G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.509,0.0038,1KG_AFR_AF,OTOF
431589,2:26736442:G>A,NM_194248.2:c.509+2844C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.865,\N,\N,OTOF
431590,2:26736443:G>A,NM_194248.2:c.509+2843C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.588,\N,\N,OTOF
431591,2:26736454:C>T,NM_194248.2:c.509+2832G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.777,0.001,1KG_SAS_AF,OTOF
431592,2:26736481:C>T,NM_194248.2:c.509+2805G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.416,0.0015,1KG_AFR_AF,OTOF
431593,2:26736560:G>T,NM_194248.2:c.509+2726C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.062,\N,\N,OTOF
431594,2:26736561:G>T,NM_194248.2:c.509+2725C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.06,\N,\N,OTOF
431595,2:26736568:C>T,NM_194248.2:c.509+2718G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.922,0.0008,1KG_AFR_AF,OTOF
431596,2:26736575:G>A,NM_194248.2:c.509+2711C>T,\N,\N,5/46,Benign,\N,intron_variant,2.198,0.0051,1KG_SAS_AF,OTOF
431597,2:26736588:G>A,NM_194248.2:c.509+2698C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.034,0.001,1KG_SAS_AF,OTOF
431598,2:26736602:G>T,NM_194248.2:c.509+2684C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.773,\N,\N,OTOF
431599,2:26736664:G>A,NM_194248.2:c.509+2622C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.232,\N,\N,OTOF
431600,2:26736669:T>A,NM_194248.2:c.509+2617A>T,\N,\N,5/46,Benign,\N,intron_variant,5.467,0.0556,1KG_EAS_AF,OTOF
431601,2:26736710:G>T,NM_194248.2:c.509+2576C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,11.5,0.001,1KG_SAS_AF,OTOF
431602,2:26736711:C>T,NM_194248.2:c.509+2575G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,13.41,\N,\N,OTOF
431603,2:26736757:C>T,NM_194248.2:c.509+2529G>A,\N,\N,5/46,Benign,\N,intron_variant,7.474,0.0136,1KG_AFR_AF,OTOF
431604,2:26736793:C>T,NM_194248.2:c.509+2493G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.236,0.001,1KG_EAS_AF,OTOF
431605,2:26736794:G>A,NM_194248.2:c.509+2492C>T,\N,\N,5/46,Benign,\N,intron_variant,0.945,0.0991,1KG_AFR_AF,OTOF
431606,2:26736823:C>T,NM_194248.2:c.509+2463G>A,\N,\N,5/46,Benign,\N,intron_variant,8.369,0.2776,1KG_AFR_AF,OTOF
431607,2:26736833:C>T,NM_194248.2:c.509+2453G>A,\N,\N,5/46,Benign,\N,intron_variant,8.049,0.2776,1KG_AFR_AF,OTOF
431608,2:26736849:A>C,NM_194248.2:c.509+2437T>G,\N,\N,5/46,Benign,\N,intron_variant,0.81,0.2776,1KG_AFR_AF,OTOF
431609,2:26736877:G>A,NM_194248.2:c.509+2409C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.391,0.001,1KG_SAS_AF,OTOF
431610,2:26736906:C>T,NM_194248.2:c.509+2380G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.027,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
431611,2:26736907:G>A,NM_194248.2:c.509+2379C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.247,\N,\N,OTOF
431612,2:26736908:C>T,NM_194248.2:c.509+2378G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.556,\N,\N,OTOF
431613,2:26736912:A>C,NM_194248.2:c.509+2374T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.018,\N,\N,OTOF
431614,2:26736919:C>T,NM_194248.2:c.509+2367G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,4.926,0.003,1KG_AFR_AF,OTOF
431615,2:26736920:C>G,NM_194248.2:c.509+2366G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.926,\N,\N,OTOF
431616,2:26736943:T>C,NM_194248.2:c.509+2343A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.743,\N,\N,OTOF
431617,2:26736958:C>T,NM_194248.2:c.509+2328G>A,\N,\N,5/46,Benign,\N,intron_variant,3.832,0.2867,1KG_AFR_AF,OTOF
431618,2:26736969:C>T,NM_194248.2:c.509+2317G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.026,\N,\N,OTOF
431619,2:26736990:C>G,NM_194248.2:c.509+2296G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,11.53,\N,\N,OTOF
431620,2:26737014:G>T,NM_194248.2:c.509+2272C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.025,0.0029,1KG_AMR_AF,OTOF
431621,2:26737023:C>T,NM_194248.2:c.509+2263G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.149,0.0038,1KG_AFR_AF,OTOF
431622,2:26737026:T>A,NM_194248.2:c.509+2260A>T,\N,\N,5/46,Benign,\N,intron_variant,2.269,0.0643,1KG_AFR_AF,OTOF
431623,2:26737038:A>G,NM_194248.2:c.509+2248T>C,\N,\N,5/46,Benign,\N,intron_variant,1.647,0.5327,1KG_EAS_AF,OTOF
431624,2:26737056:G>A,NM_194248.2:c.509+2230C>T,\N,\N,5/46,Benign,\N,intron_variant,1.086,0.3918,1KG_AFR_AF,OTOF
431625,2:26737072:G>A,NM_194248.2:c.509+2214C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.679,\N,\N,OTOF
431626,2:26737086:G>A,NM_194248.2:c.509+2200C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.443,0.0008,1KG_AFR_AF,OTOF
431627,2:26737088:G>C,NM_194248.2:c.509+2198C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.616,\N,\N,OTOF
431628,2:26737167:G>A,NM_194248.2:c.509+2119C>T,\N,\N,5/46,Benign,\N,intron_variant,1.689,0.3162,1KG_AFR_AF,OTOF
431629,2:26737177:T>TC,NM_194248.2:c.509+2108dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431630,2:26737189:C>T,NM_194248.2:c.509+2097G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.341,0.003,1KG_EAS_AF,OTOF
431631,2:26737209:G>T,NM_194248.2:c.509+2077C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.509,0.0008,1KG_AFR_AF,OTOF
431632,2:26737213:G>T,NM_194248.2:c.509+2073C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.398,0.001,1KG_EUR_AF,OTOF
431633,2:26737221:C>T,NM_194248.2:c.509+2065G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.691,\N,\N,OTOF
431634,2:26737222:G>A,NM_194248.2:c.509+2064C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.778,0.001,1KG_EUR_AF,OTOF
431635,2:26737229:G>A,NM_194248.2:c.509+2057C>T,\N,\N,5/46,Benign,\N,intron_variant,5.969,0.4213,1KG_AFR_AF,OTOF
431636,2:26737234:A>T,NM_194248.2:c.509+2052T>A,\N,\N,5/46,Benign,\N,intron_variant,9.333,0.4213,1KG_AFR_AF,OTOF
431637,2:26737267:C>T,NM_194248.2:c.509+2019G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.323,0.002,1KG_EAS_AF,OTOF
431638,2:26737302:T>C,NM_194248.2:c.509+1984A>G,\N,\N,5/46,Benign,\N,intron_variant,2.871,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
431639,2:26737307:C>G,NM_194248.2:c.509+1979G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.514,0.0008,1KG_AFR_AF,OTOF
431640,2:26737340:T>A,NM_194248.2:c.509+1946A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.206,0.0008,1KG_AFR_AF,OTOF
431641,2:26737343:G>A,NM_194248.2:c.509+1943C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.52,0.0008,1KG_AFR_AF,OTOF
431642,2:26737347:C>G,NM_194248.2:c.509+1939G>C,\N,\N,5/46,Benign,\N,intron_variant,2.645,0.0091,1KG_AFR_AF,OTOF
431643,2:26737358:C>G,NM_194248.2:c.509+1928G>C,\N,\N,5/46,Benign,\N,intron_variant,3.005,0.0068,1KG_AFR_AF,OTOF
431644,2:26737361:T>A,NM_194248.2:c.509+1925A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.523,\N,\N,OTOF
431645,2:26737362:T>A,NM_194248.2:c.509+1924A>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.261,\N,\N,OTOF
431646,2:26737380:T>C,NM_194248.2:c.509+1906A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,3.296,0.002,1KG_SAS_AF,OTOF
431647,2:26737387:G>C,NM_194248.2:c.509+1899C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.429,\N,\N,OTOF
431648,2:26737395:A>C,NM_194248.2:c.509+1891T>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.986,\N,\N,OTOF
431649,2:26737396:C>T,NM_194248.2:c.509+1890G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.298,0.002,1KG_SAS_AF,OTOF
431650,2:26737419:C>T,NM_194248.2:c.509+1867G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.853,0.001,1KG_EAS_AF,OTOF
431651,2:26737430:A>G,NM_194248.2:c.509+1856T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.027,\N,\N,OTOF
431652,2:26737448:T>C,NM_194248.2:c.509+1838A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.999,\N,\N,OTOF
431653,2:26737469:A>G,NM_194248.2:c.509+1817T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.972,0.001,1KG_SAS_AF,OTOF
431654,2:26737476:G>A,NM_194248.2:c.509+1810C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.734,0.0008,1KG_AFR_AF,OTOF
431655,2:26737518:C>T,NM_194248.2:c.509+1768G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.725,0.001,1KG_SAS_AF,OTOF
431656,2:26737530:T>C,NM_194248.2:c.509+1756A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,1.734,0.002,1KG_EAS_AF,OTOF
431657,2:26737532:C>G,NM_194248.2:c.509+1754G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.958,0.001,1KG_EAS_AF,OTOF
431658,2:26737606:T>G,NM_194248.2:c.509+1680A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,4.373,\N,\N,OTOF
431659,2:26737648:T>C,NM_194248.2:c.509+1638A>G,\N,\N,5/46,Benign,\N,intron_variant,2.452,0.3669,1KG_AFR_AF,OTOF
431660,2:26737651:G>C,NM_194248.2:c.509+1635C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.468,\N,\N,OTOF
431661,2:26737668:A>G,NM_194248.2:c.509+1618T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.014,0.0031,1KG_SAS_AF,OTOF
431662,2:26737679:T>G,NM_194248.2:c.509+1607A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.211,0.001,1KG_EAS_AF,OTOF
431663,2:26737693:A>G,NM_194248.2:c.509+1593T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.89,\N,\N,OTOF
431664,2:26737720:G>C,NM_194248.2:c.509+1566C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.522,\N,\N,OTOF
431665,2:26737752:C>A,NM_194248.2:c.509+1534G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.869,0.001,1KG_EAS_AF,OTOF
431666,2:26737804:G>A,NM_194248.2:c.509+1482C>T,\N,\N,5/46,Benign,\N,intron_variant,7.531,0.0136,1KG_AFR_AF,OTOF
431667,2:26737816:C>T,NM_194248.2:c.509+1470G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.959,\N,\N,OTOF
431668,2:26737827:G>A,NM_194248.2:c.509+1459C>T,\N,\N,5/46,Benign,\N,intron_variant,0.993,0.0522,1KG_AFR_AF,OTOF
431669,2:26737834:C>T,NM_194248.2:c.509+1452G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.87,0.001,1KG_SAS_AF,OTOF
431670,2:26737863:C>T,NM_194248.2:c.509+1423G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.305,\N,\N,OTOF
431671,2:26737864:G>A,NM_194248.2:c.509+1422C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.402,\N,\N,OTOF
431672,2:26737864:G>C,NM_194248.2:c.509+1422C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.294,0.001,1KG_EUR_AF,OTOF
431673,2:26737868:C>T,NM_194248.2:c.509+1418G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,7.161,\N,\N,OTOF
431674,2:26737900:C>A,NM_194248.2:c.509+1386G>T,\N,\N,5/46,Benign,\N,intron_variant,4.774,0.572,1KG_AMR_AF,OTOF
431675,2:26737919:C>G,NM_194248.2:c.509+1367G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.836,\N,\N,OTOF
431676,2:26737920:C>G,NM_194248.2:c.509+1366G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.717,0.002,1KG_EAS_AF,OTOF
431677,2:26737930:G>A,NM_194248.2:c.509+1356C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.824,0.001,1KG_EAS_AF,OTOF
431678,2:26737935:G>A,NM_194248.2:c.509+1351C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.113,0.002,1KG_EAS_AF,OTOF
431679,2:26737936:C>G,NM_194248.2:c.509+1350G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,1.399,\N,\N,OTOF
431680,2:26737975:C>G,NM_194248.2:c.509+1311G>C,\N,\N,5/46,Benign,\N,intron_variant,4.968,0.1399,1KG_AFR_AF,OTOF
431681,2:26737976:C>T,NM_194248.2:c.509+1310G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.955,\N,\N,OTOF
431682,2:26737977:G>C,NM_194248.2:c.509+1309C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.277,0.0014,1KG_AMR_AF,OTOF
431683,2:26737990:G>T,NM_194248.2:c.509+1296C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.029,0.001,1KG_EAS_AF,OTOF
431684,2:26738019:C>T,NM_194248.2:c.509+1267G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.939,0.001,1KG_EAS_AF,OTOF
431685,2:26738032:G>A,NM_194248.2:c.509+1254C>T,\N,\N,5/46,Benign,\N,intron_variant,8.101,0.1082,1KG_AFR_AF,OTOF
431686,2:26738057:A>C,NM_194248.2:c.509+1229T>G,\N,\N,5/46,Benign,\N,intron_variant,1.212,0.0144,1KG_AFR_AF,OTOF
431687,2:26738113:A>G,NM_194248.2:c.509+1173T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.484,0.0023,1KG_AFR_AF,OTOF
431688,2:26738121:A>G,NM_194248.2:c.509+1165T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,0.874,0.001,1KG_EAS_AF,OTOF
431689,2:26738161:C>T,NM_194248.2:c.509+1125G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.891,\N,\N,OTOF
431690,2:26738170:C>T,NM_194248.2:c.509+1116G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.658,\N,\N,OTOF
431691,2:26738171:G>C,NM_194248.2:c.509+1115C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.553,0.0023,1KG_AFR_AF,OTOF
431692,2:26738214:C>T,NM_194248.2:c.509+1072G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,5.002,\N,\N,OTOF
431693,2:26738270:T>TTG,NM_194248.2:c.509+1014_509+1015dup,\N,\N,5/46,Benign,\N,intron_variant,10.52,0.378,1KG_EAS_AF,OTOF
431694,2:26738270:TTG>T,NM_194248.2:c.509+1014_509+1015del,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431695,2:26738271:T>TTG,NM_194248.2:c.509+1014_509+1015insCA,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431696,2:26738286:A>G,NM_194248.2:c.509+1000T>C,\N,\N,5/46,Benign,\N,intron_variant,8.693,0.0303,1KG_AMR_AF,OTOF
431697,2:26738301:C>T,NM_194248.2:c.509+985G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.398,\N,\N,OTOF
431698,2:26738302:G>A,NM_194248.2:c.509+984C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.337,\N,\N,OTOF
431699,2:26738317:C>T,NM_194248.2:c.509+969G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.026,0.001,1KG_EAS_AF,OTOF
431700,2:26738343:G>A,NM_194248.2:c.509+943C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.431,0.002,1KG_SAS_AF,OTOF
431701,2:26738369:G>A,NM_194248.2:c.509+917C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,6.936,0.0008,1KG_AFR_AF,OTOF
431702,2:26738375:A>G,NM_194248.2:c.509+911T>C,\N,\N,5/46,Benign,\N,intron_variant,1.436,0.0356,1KG_AFR_AF,OTOF
431703,2:26738422:C>T,NM_194248.2:c.509+864G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.938,\N,\N,OTOF
431704,2:26738489:C>T,NM_194248.2:c.509+797G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,1.355,0.001,1KG_EAS_AF,OTOF
431705,2:26738512:G>A,NM_194248.2:c.509+774C>T,\N,\N,5/46,Benign,\N,intron_variant,0.251,0.0557,1KG_EUR_AF,OTOF
431706,2:26738535:C>G,NM_194248.2:c.509+751G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,13.13,\N,\N,OTOF
431707,2:26738543:C>T,NM_194248.2:c.509+743G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,13.59,0.001,1KG_SAS_AF,OTOF
431708,2:26738574:A>G,NM_194248.2:c.509+712T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.858,\N,\N,OTOF
431709,2:26738579:A>C,NM_194248.2:c.509+707T>G,\N,\N,5/46,Benign,\N,intron_variant,0.019,0.1165,1KG_AFR_AF,OTOF
431710,2:26738618:A>G,NM_194248.2:c.509+668T>C,\N,\N,5/46,Benign,\N,intron_variant,2.174,0.0076,1KG_AFR_AF,OTOF
431711,2:26738624:C>T,NM_194248.2:c.509+662G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,2.316,0.0014,1KG_AMR_AF,OTOF
431712,2:26738643:C>T,NM_194248.2:c.509+643G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.682,0.002,1KG_SAS_AF,OTOF
431713,2:26738648:T>C,NM_194248.2:c.509+638A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,0.704,\N,\N,OTOF
431714,2:26738692:T>G,NM_194248.2:c.509+594A>C,\N,\N,5/46,Unknown significance,\N,intron_variant,3.248,0.002,1KG_EUR_AF,OTOF
431715,2:26738696:C>A,NM_194248.2:c.509+590G>T,\N,\N,5/46,Benign,\N,intron_variant,1.206,0.9467,1KG_AMR_AF,OTOF
431716,2:26738704:G>A,NM_194248.2:c.509+582C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.635,\N,\N,OTOF
431717,2:26738735:A>G,NM_194248.2:c.509+551T>C,\N,\N,5/46,Benign,\N,intron_variant,0.729,0.9625,1KG_AMR_AF,OTOF
431718,2:26738760:G>A,NM_194248.2:c.509+526C>T,\N,\N,5/46,Benign,\N,intron_variant,0.807,0.0144,1KG_AMR_AF,OTOF
431719,2:26738765:G>A,NM_194248.2:c.509+521C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.372,0.0041,1KG_SAS_AF,OTOF
431720,2:26738782:C>T,NM_194248.2:c.509+504G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,3.938,\N,\N,OTOF
431721,2:26738816:C>A,NM_194248.2:c.509+470G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.662,0.001,1KG_EUR_AF,OTOF
431722,2:26738838:G>C,NM_194248.2:c.509+448C>G,\N,\N,5/46,Unknown significance,\N,intron_variant,4.546,\N,\N,OTOF
431723,2:26738892:G>A,NM_194248.2:c.509+394C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.302,0.001,1KG_EAS_AF,OTOF
431724,2:26738898:G>A,NM_194248.2:c.509+388C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,4.041,0.001,1KG_EAS_AF,OTOF
431725,2:26738910:G>A,NM_194248.2:c.509+376C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,0.949,0.001,1KG_EAS_AF,OTOF
431726,2:26738932:G>A,NM_194248.2:c.509+354C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,5.485,\N,\N,OTOF
431727,2:26738946:A>G,NM_194248.2:c.509+340T>C,\N,\N,5/46,Benign,\N,intron_variant,4.539,0.006,1KG_EUR_AF,OTOF
431728,2:26738964:T>C,NM_194248.2:c.509+322A>G,\N,\N,5/46,Benign,\N,intron_variant,0.899,0.1316,1KG_AFR_AF,OTOF
431729,2:26739004:C>T,NM_194248.2:c.509+282G>A,\N,\N,5/46,Benign,\N,intron_variant,6.226,0.9424,1KG_AMR_AF,OTOF
431730,2:26739012:T>C,NM_194248.2:c.509+274A>G,\N,\N,5/46,Unknown significance,\N,intron_variant,5.697,0.0014,1KG_AMR_AF,OTOF
431731,2:26739043:T>TG,NM_194248.2:c.509+242dup,\N,\N,5/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431732,2:26739102:G>A,NM_194248.2:c.509+184C>T,\N,\N,5/46,Benign,\N,intron_variant,0.619,0.0109,1KG_EUR_AF,OTOF
431733,2:26739135:C>T,NM_194248.2:c.509+151G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,6.035,\N,\N,OTOF
431734,2:26739147:C>G,NM_194248.2:c.509+139G>C,\N,\N,5/46,Unknown significance,\N,intron_variant,5.289,\N,\N,OTOF
431735,2:26739237:TC>T,NM_194248.2:c.509+48del,\N,\N,5/46,Unknown significance,\N,intron_variant,3.804,0.0000612783,EXAC_NFE_AF,OTOF
431736,2:26739240:C>A,NM_194248.2:c.509+46G>T,\N,\N,5/46,Unknown significance,\N,intron_variant,3.646,\N,\N,OTOF
431737,2:26739241:C>T,NM_194248.2:c.509+45G>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.103,0.0000785793,EXAC_SAS_AF,OTOF
431738,2:26739242:G>A,NM_194248.2:c.509+44C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,1.812,0.000454133,EVS_AA_AF,OTOF
431739,2:26739247:T>A,NM_194248.2:c.509+39A>T,\N,\N,5/46,Benign,\N,intron_variant,6.37,0.606728,EXAC_SAS_AF,OTOF
431740,2:26739249:G>A,NM_194248.2:c.509+37C>T,\N,\N,5/46,Unknown significance,\N,intron_variant,2.468,0.0000690417,EXAC_SAS_AF,OTOF
431741,2:26739266:A>G,NM_194248.2:c.509+20T>C,\N,\N,5/46,Unknown significance,\N,intron_variant,2.632,0.0014,1KG_AMR_AF,OTOF
431742,2:26739269:G>T,NM_194248.2:c.509+17C>A,\N,\N,5/46,Unknown significance,\N,intron_variant,0.327,0.000115687,EXAC_EAS_AF,OTOF
431743,2:26739273:T>G,NM_194248.2:c.509+13A>C,\N,\N,5/46,Benign,\N,intron_variant,2.609,0.005,OTO_TR_AF,OTOF
431744,2:26739275:C>T,NM_194248.2:c.509+11G>A,\N,\N,5/46,Benign,\N,intron_variant,2.858,0.0091,1KG_AFR_AF,OTOF
431745,2:26739276:T>C,NM_194248.2:c.509+10A>G,\N,\N,5/46,Benign,\N,intron_variant,1.564,0.1369,1KG_AFR_AF,OTOF
431746,2:26739284:A>C,NM_194248.2:c.509+2T>G,\N,\N,5/46,Unknown significance,\N,splice_donor_variant,24.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431747,2:26739288:C>A,NM_194248.2:c.507G>T,NP_919224.1:p.Arg169=,5/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,17.62,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431748,2:26739289:C>T,NM_194248.2:c.506G>A,NP_919224.1:p.Arg169Gln,5/47,\N,Unknown significance,\N,missense_variant,24.8,0.00116482,EXAC_AFR_AF,OTOF
431749,2:26739290:G>A,NM_194248.2:c.505C>T,NP_919224.1:p.Arg169Trp,5/47,\N,Benign,\N,missense_variant,34,0.0295,1KG_AFR_AF,OTOF
431750,2:26739290:G>C,NM_194248.2:c.505C>G,NP_919224.1:p.Arg169Gly,5/47,\N,Unknown significance,\N,missense_variant,23.6,0.0000150435,EXAC_NFE_AF,OTOF
431751,2:26739294:G>T,NM_194248.2:c.501C>A,NP_919224.1:p.Ser167Arg,5/47,\N,Likely benign,\N,missense_variant,18.94,0.000246093,EXAC_SAS_AF,OTOF
431752,2:26739297:CTTCTCTCCTGGGGG>C,NM_194248.2:c.484_497del,NP_919224.1:p.Pro162GlufsTer30,5/47,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,OTOF
431753,2:26739301:T>A,NM_194248.2:c.494A>T,NP_919224.1:p.Glu165Val,5/47,\N,Unknown significance,\N,missense_variant,21.1,0.001,1KG_EAS_AF,OTOF
431754,2:26739313:C>T,NM_194248.2:c.482G>A,NP_919224.1:p.Arg161Gln,5/47,\N,Likely benign,\N,missense_variant,21.2,0.0015,1KG_AFR_AF,OTOF
431755,2:26739314:G>A,NM_194248.2:c.481C>T,NP_919224.1:p.Arg161Trp,5/47,\N,Unknown significance,\N,missense_variant,24.6,0.000116279,EVS_EA_AF,OTOF
431756,2:26739314:G>C,NM_194248.2:c.481C>G,NP_919224.1:p.Arg161Gly,5/47,\N,Likely benign,\N,missense_variant,14.57,0.0000606428,EXAC_SAS_AF,OTOF
431757,2:26739316:G>A,NM_194248.2:c.479C>T,NP_919224.1:p.Ser160Phe,5/47,\N,Unknown significance,\N,missense_variant,22.6,0.000115687,EXAC_EAS_AF,OTOF
431758,2:26739318:G>C,NM_194248.2:c.477C>G,NP_919224.1:p.Ser159Arg,5/47,\N,Likely benign,\N,missense_variant,7.463,0.000121227,EXAC_SAS_AF,OTOF
431759,2:26739322:G>A,NM_194248.2:c.473C>T,NP_919224.1:p.Pro158Leu,5/47,\N,Unknown significance,\N,missense_variant,11.43,0.0000150024,EXAC_NFE_AF,OTOF
431760,2:26739325:C>T,NM_194248.2:c.470G>A,NP_919224.1:p.Arg157Gln,5/47,\N,Likely benign,\N,missense_variant,22.2,0.0000300048,EXAC_NFE_AF,OTOF
431761,2:26739326:G>A,NM_001287489.1:c.469C>T,NP_001274418.1:p.Arg157Trp,5/46,\N,Unknown significance,\N,missense_variant,26.3,0.0000605694,EXAC_SAS_AF,OTOF
431762,2:26739328:G>T,NM_194248.2:c.467C>A,NP_919224.1:p.Ser156Tyr,5/47,\N,Unknown significance,\N,missense_variant,22.1,0.000231428,EXAC_EAS_AF,OTOF
431763,2:26739332:C>G,NM_001287489.1:c.463G>C,NP_001274418.1:p.Gly155Arg,5/46,\N,Unknown significance,\N,missense_variant,21.8,0.0000299994,EXAC_NFE_AF,OTOF
431764,2:26739334:G>A,NM_194248.2:c.461C>T,NP_919224.1:p.Pro154Leu,5/47,\N,Unknown significance,\N,missense_variant,15.24,0.000060562,EXAC_SAS_AF,OTOF
431765,2:26739340:A>C,NM_001287489.1:c.455T>G,NP_001274418.1:p.Leu152Arg,5/46,\N,Unknown significance,\N,missense_variant,23.2,0.0000149984,EXAC_NFE_AF,OTOF
431766,2:26739343:C>G,NM_194248.2:c.452G>C,NP_919224.1:p.Gly151Ala,5/47,\N,Unknown significance,\N,missense_variant,15.98,0.000116279,EVS_EA_AF,OTOF
431767,2:26739348:C>T,NM_194248.2:c.447G>A,NP_919224.1:p.Thr149=,5/47,\N,Unknown significance,\N,synonymous_variant,14.57,0.000116279,EVS_EA_AF,OTOF
431768,2:26739349:G>A,NM_194248.2:c.446C>T,NP_919224.1:p.Thr149Met,5/47,\N,Benign,\N,missense_variant,25.1,0.0075,OTO_AJ_AF,OTOF
431769,2:26739356:G>A,NM_194248.2:c.439C>T,NP_919224.1:p.Gln147Ter,5/47,\N,Unknown significance,\N,stop_gained,36,0.0000605767,EXAC_SAS_AF,OTOF
431770,2:26739366:C>T,NM_194248.2:c.429G>A,NP_919224.1:p.Glu143=,5/47,\N,Unknown significance,\N,synonymous_variant,12.91,\N,\N,OTOF
431771,2:26739368:C>T,NM_194248.2:c.427G>A,NP_919224.1:p.Glu143Lys,5/47,\N,Likely benign,\N,missense_variant,22.4,0.0000605767,EXAC_SAS_AF,OTOF
431772,2:26739371:C>T,NM_194248.2:c.424G>A,NP_919224.1:p.Glu142Lys,5/47,\N,Likely benign,\N,missense_variant,24.3,\N,\N,OTOF
431773,2:26739377:G>A,NM_194248.2:c.418C>T,NP_919224.1:p.Gln140Ter,5/47,\N,Unknown significance,\N,stop_gained,37,0.0000150123,EXAC_NFE_AF,OTOF
431774,2:26739380:G>A,NM_194248.2:c.415C>T,NP_919224.1:p.Leu139Phe,5/47,\N,Unknown significance,\N,missense_variant,21.5,0.000226963,EVS_AA_AF,OTOF
431775,2:26739386:C>T,NM_194248.2:c.409G>A,NP_919224.1:p.Glu137Lys,5/47,\N,Likely benign,\N,missense_variant,23,0.002,1KG_EAS_AF,OTOF
431776,2:26739393:C>T,NM_194248.2:c.402G>A,NP_919224.1:p.Leu134=,5/47,\N,Unknown significance,\N,synonymous_variant,15.25,0.000121183,EXAC_SAS_AF,OTOF
431777,2:26739404:C>T,NM_194248.2:c.391G>A,NP_919224.1:p.Gly131Arg,5/47,\N,Unknown significance,\N,missense_variant,23.1,0.0000605987,EXAC_SAS_AF,OTOF
431778,2:26739407:C>T,NM_194248.2:c.388G>A,NP_919224.1:p.Asp130Asn,5/47,\N,Likely benign,\N,missense_variant,19.06,0.000097012,EXAC_AFR_AF,OTOF
431779,2:26739408:G>A,NM_194248.2:c.387C>T,NP_919224.1:p.Asp129=,5/47,\N,Unknown significance,\N,synonymous_variant,1.544,0.00110865,EXAC_OTH_AF,OTOF
431780,2:26739417:G>A,NM_194248.2:c.378C>T,NP_919224.1:p.Gly126=,5/47,\N,Unknown significance,\N,synonymous_variant,7.029,0.0008,1KG_AFR_AF,OTOF
431781,2:26739418:C>G,NM_194248.2:c.377G>C,NP_919224.1:p.Gly126Ala,5/47,\N,Unknown significance,\N,missense_variant,16.86,0.0000150494,EXAC_NFE_AF,OTOF
431782,2:26739418:C>T,NM_194248.2:c.377G>A,NP_919224.1:p.Gly126Asp,5/47,\N,Benign,\N,missense_variant,26,0.0079,1KG_EAS_AF,OTOF
431783,2:26739421:A>T,NM_001287489.1:c.374T>A,NP_001274418.1:p.Val125Glu,5/46,\N,Unknown significance,\N,missense_variant,20.4,0.00034626,EXAC_AMR_AF,OTOF
431784,2:26739423:T>C,NM_194248.2:c.372A>G,NP_919224.1:p.Thr124=,5/47,\N,Benign,\N,synonymous_variant,0.008,0.6975,OTO_JP_AF,OTOF
431785,2:26739424:G>A,NM_194248.2:c.371C>T,NP_919224.1:p.Thr124Ile,5/47,\N,Unknown significance,\N,missense_variant,13.22,0.0000151117,EXAC_NFE_AF,OTOF
431786,2:26739425:TGCC>T,NM_194248.2:c.367_369del,NP_919224.1:p.Gly123del,5/47,\N,Unknown significance,\N,inframe_deletion,14.31,\N,\N,OTOF
431787,2:26739428:C>T,NM_194248.2:c.367G>A,NP_919224.1:p.Gly123Ser,5/47,\N,Benign,\N,missense_variant,21.5,0.01,OTO_TR_AF,OTOF
431788,2:26739429:G>A,NM_194248.2:c.366C>T,NP_919224.1:p.Asp122=,5/47,\N,Benign,\N,synonymous_variant,2.14,0.00953246,EVS_AA_AF,OTOF
431789,2:26739436:G>A,NM_194248.2:c.359C>T,NP_919224.1:p.Ala120Val,5/47,\N,Likely benign,\N,missense_variant,12.59,0.0000867754,EXAC_AMR_AF,OTOF
431790,2:26739442:T>C,NM_194248.2:c.353A>G,NP_919224.1:p.Tyr118Cys,5/47,\N,Unknown significance,\N,missense_variant,24.9,0.0000606796,EXAC_SAS_AF,OTOF
431791,2:26739444:C>A,NM_194248.2:c.351G>T,NP_919224.1:p.Arg117=,5/47,\N,Unknown significance,\N,synonymous_variant,13.88,0.0008,1KG_AFR_AF,OTOF
431792,2:26739446:G>A,NM_194248.2:c.349C>T,NP_919224.1:p.Arg117Trp,5/47,\N,Unknown significance,\N,missense_variant,25.6,0.0000606943,EXAC_SAS_AF,OTOF
431793,2:26739453:C>G,NM_194248.2:c.342G>C,NP_919224.1:p.Val114=,5/47,\N,Unknown significance,\N,synonymous_variant,11.53,0.000235239,EXAC_EAS_AF,OTOF
431794,2:26739455:C>T,NM_194248.2:c.340G>A,NP_919224.1:p.Val114Met,5/47,\N,Likely benign,\N,missense_variant,21.7,0.0008,1KG_AFR_AF,OTOF
431795,2:26739456:G>A,NM_194248.2:c.339C>T,NP_919224.1:p.Cys113=,5/47,\N,Unknown significance,\N,synonymous_variant,12.65,0.00499319,EVS_AA_AF,OTOF
431796,2:26739458:A>G,NM_194248.2:c.337T>C,NP_919224.1:p.Cys113Arg,5/47,\N,Unknown significance,\N,missense_variant,12.8,0.000232558,EVS_EA_AF,OTOF
431797,2:26739459:C>A,NM_194248.2:c.336G>T,NP_919224.1:p.Leu112=,5/47,\N,Unknown significance,\N,synonymous_variant,16.14,0.0000607017,EXAC_SAS_AF,OTOF
431798,2:26739467:T>G,NM_194248.2:c.328A>C,NP_919224.1:p.Thr110Pro,5/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,26,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431799,2:26739473:G>A,NM_194248.2:c.328-6C>T,\N,\N,4/46,Unknown significance,\N,splice_region_variant&intron_variant,10.46,0.0008,1KG_AFR_AF,OTOF
431800,2:26739476:A>G,NM_194248.2:c.328-9T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,5.706,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431801,2:26739478:G>A,NM_194248.2:c.328-11C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.795,0.000232558,EVS_EA_AF,OTOF
431802,2:26739480:A>G,NM_194248.2:c.328-13T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,1.73,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431803,2:26739481:G>A,NM_194248.2:c.328-14C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.825,0.0008,1KG_AFR_AF,OTOF
431804,2:26739483:C>T,NM_194248.2:c.328-16G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.211,0.0008,1KG_AFR_AF,OTOF
431805,2:26739484:G>A,NM_194248.2:c.328-17C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,4.623,0.000101667,EXAC_AFR_AF,OTOF
431806,2:26739485:G>A,NM_194248.2:c.328-18C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.155,0.00017452,EXAC_AMR_AF,OTOF
431807,2:26739486:T>C,NM_194248.2:c.328-19A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,2.295,0.0000154359,EXAC_NFE_AF,OTOF
431808,2:26739486:T>G,NM_194248.2:c.328-19A>C,\N,\N,4/46,Benign,\N,intron_variant,3.753,0.005,OTO_TR_AF,OTOF
431809,2:26739487:G>A,NM_194248.2:c.328-20C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,1.513,0.0000607607,EXAC_SAS_AF,OTOF
431810,2:26739489:T>G,NM_194248.2:c.328-22A>C,\N,\N,4/46,Unknown significance,\N,intron_variant,8.208,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
431811,2:26739501:A>G,NM_194248.2:c.328-34T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,4.357,0.000102585,EXAC_AFR_AF,OTOF
431812,2:26739501:A>T,NM_194248.2:c.328-34T>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.784,0.001,1KG_EAS_AF,OTOF
431813,2:26739503:G>A,NM_194248.2:c.328-36C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.779,0.0000155048,EXAC_NFE_AF,OTOF
431814,2:26739512:A>C,NM_194248.2:c.328-45T>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.02,0.000121655,EXAC_SAS_AF,OTOF
431815,2:26739515:C>A,NM_194248.2:c.328-48G>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.188,0.0000877655,EXAC_AMR_AF,OTOF
431816,2:26739519:A>G,NM_194248.2:c.328-52T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,4.773,0.000015646,EXAC_NFE_AF,OTOF
431817,2:26739524:G>A,NM_194248.2:c.328-57C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,0.095,\N,\N,OTOF
431818,2:26739526:A>G,NM_194248.2:c.328-59T>C,\N,\N,4/46,Benign,\N,intron_variant,2.361,0.3105,1KG_EAS_AF,OTOF
431819,2:26739535:T>A,NM_194248.2:c.328-68A>T,\N,\N,4/46,Unknown significance,\N,intron_variant,6.529,0.003,1KG_EAS_AF,OTOF
431820,2:26739551:C>A,NM_194248.2:c.328-84G>T,\N,\N,4/46,Unknown significance,\N,intron_variant,1.418,0.003,1KG_EAS_AF,OTOF
431821,2:26739553:C>T,NM_194248.2:c.328-86G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.775,0.001,1KG_EUR_AF,OTOF
431822,2:26739556:C>T,NM_194248.2:c.328-89G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.904,0.003,1KG_EAS_AF,OTOF
431823,2:26739561:C>CCA,NM_194248.2:c.328-96_328-95dup,\N,\N,4/46,Unknown significance,\N,intron_variant,2.95,\N,\N,OTOF
431824,2:26739563:A>G,NM_194248.2:c.328-96T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,4.541,0.001,1KG_EAS_AF,OTOF
431825,2:26739572:C>T,NM_194248.2:c.328-105G>A,\N,\N,4/46,Benign,\N,intron_variant,3.091,0.0082,1KG_SAS_AF,OTOF
431826,2:26739579:G>A,NM_194248.2:c.328-112C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.433,0.001,1KG_EAS_AF,OTOF
431827,2:26739601:T>A,NM_194248.2:c.328-134A>T,\N,\N,4/46,Unknown significance,\N,intron_variant,6.88,0.001,1KG_SAS_AF,OTOF
431828,2:26739631:A>G,NM_194248.2:c.328-164T>C,\N,\N,4/46,Benign,\N,intron_variant,11.29,0.0983,1KG_AFR_AF,OTOF
431829,2:26739652:C>T,NM_194248.2:c.328-185G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.923,\N,\N,OTOF
431830,2:26739669:A>G,NM_194248.2:c.328-202T>C,\N,\N,4/46,Benign,\N,intron_variant,2.843,0.008,1KG_EUR_AF,OTOF
431831,2:26739693:T>TC,NM_194248.2:c.328-227dup,\N,\N,4/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431832,2:26739697:G>A,NM_194248.2:c.328-230C>T,\N,\N,4/46,Benign,\N,intron_variant,0.294,0.0069,1KG_EAS_AF,OTOF
431833,2:26739743:T>C,NM_194248.2:c.328-276A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,2.248,0.001,1KG_EAS_AF,OTOF
431834,2:26739761:T>G,NM_194248.2:c.328-294A>C,\N,\N,4/46,Benign,\N,intron_variant,5.252,0.0061,1KG_AFR_AF,OTOF
431835,2:26739780:C>T,NM_194248.2:c.328-313G>A,\N,\N,4/46,Benign,\N,intron_variant,1.965,0.9294,1KG_AMR_AF,OTOF
431836,2:26739805:A>G,NM_194248.2:c.328-338T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,0.881,0.001,1KG_EAS_AF,OTOF
431837,2:26739848:A>C,NM_194248.2:c.328-381T>G,\N,\N,4/46,Unknown significance,\N,intron_variant,3.138,\N,\N,OTOF
431838,2:26739857:G>T,NM_194248.2:c.328-390C>A,\N,\N,4/46,Benign,\N,intron_variant,1.033,0.0082,1KG_SAS_AF,OTOF
431839,2:26739876:C>T,NM_194248.2:c.328-409G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.258,\N,\N,OTOF
431840,2:26739879:G>A,NM_194248.2:c.328-412C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,1.613,\N,\N,OTOF
431841,2:26739884:G>C,NM_194248.2:c.328-417C>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.577,0.003,1KG_EAS_AF,OTOF
431842,2:26739893:C>T,NM_194248.2:c.328-426G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.212,0.001,1KG_SAS_AF,OTOF
431843,2:26739894:G>A,NM_194248.2:c.328-427C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,0.743,\N,\N,OTOF
431844,2:26739911:C>A,NM_194248.2:c.328-444G>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.501,\N,\N,OTOF
431845,2:26739945:C>T,NM_194248.2:c.328-478G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,7.537,0.002,1KG_EUR_AF,OTOF
431846,2:26739970:C>T,NM_194248.2:c.328-503G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,3.168,\N,\N,OTOF
431847,2:26740041:T>C,NM_194248.2:c.328-574A>G,\N,\N,4/46,Benign,\N,intron_variant,0.576,0.0101,1KG_AMR_AF,OTOF
431848,2:26740044:A>G,NM_194248.2:c.328-577T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,1.867,0.0038,1KG_AFR_AF,OTOF
431849,2:26740051:T>C,NM_194248.2:c.328-584A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,1.964,\N,\N,OTOF
431850,2:26740070:G>A,NM_194248.2:c.328-603C>T,\N,\N,4/46,Benign,\N,intron_variant,1.009,0.9453,1KG_EUR_AF,OTOF
431851,2:26740077:T>C,NM_194248.2:c.328-610A>G,\N,\N,4/46,Benign,\N,intron_variant,0.213,0.9433,1KG_EUR_AF,OTOF
431852,2:26740080:G>C,NM_194248.2:c.328-613C>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.621,\N,\N,OTOF
431853,2:26740094:C>T,NM_194248.2:c.328-627G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.928,0.001,1KG_SAS_AF,OTOF
431854,2:26740103:G>A,NM_194248.2:c.328-636C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,8.05,\N,\N,OTOF
431855,2:26740129:TC>T,NM_194248.2:c.328-663del,\N,\N,4/46,Benign,\N,intron_variant,1.908,0.9395,1KG_AMR_AF,OTOF
431856,2:26740130:C>T,NM_194248.2:c.328-663G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.62,\N,\N,OTOF
431857,2:26740135:C>A,NM_194248.2:c.328-668G>T,\N,\N,4/46,Benign,\N,intron_variant,3.498,0.1528,1KG_AFR_AF,OTOF
431858,2:26740137:A>T,NM_194248.2:c.328-670T>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.953,\N,\N,OTOF
431859,2:26740173:G>A,NM_194248.2:c.328-706C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.983,\N,\N,OTOF
431860,2:26740196:C>T,NM_194248.2:c.328-729G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.597,0.001,1KG_SAS_AF,OTOF
431861,2:26740205:C>T,NM_194248.2:c.328-738G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.457,\N,\N,OTOF
431862,2:26740303:T>C,NM_194248.2:c.328-836A>G,\N,\N,4/46,Benign,\N,intron_variant,1.882,0.1278,1KG_AFR_AF,OTOF
431863,2:26740392:T>G,NM_194248.2:c.328-925A>C,\N,\N,4/46,Benign,\N,intron_variant,0.559,0.1755,1KG_AFR_AF,OTOF
431864,2:26740402:A>G,NM_194248.2:c.328-935T>C,\N,\N,4/46,Benign,\N,intron_variant,1.292,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
431865,2:26740414:C>G,NM_194248.2:c.328-947G>C,\N,\N,4/46,Unknown significance,\N,intron_variant,2.116,0.001,1KG_EAS_AF,OTOF
431866,2:26740458:T>G,NM_194248.2:c.328-991A>C,\N,\N,4/46,Benign,\N,intron_variant,3.001,0.0109,1KG_EUR_AF,OTOF
431867,2:26740464:T>G,NM_194248.2:c.328-997A>C,\N,\N,4/46,Benign,\N,intron_variant,1.934,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
431868,2:26740485:C>T,NM_194248.2:c.328-1018G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.17,0.001,1KG_EUR_AF,OTOF
431869,2:26740495:C>T,NM_194248.2:c.328-1028G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.005,\N,\N,OTOF
431870,2:26740520:G>A,NM_194248.2:c.328-1053C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,5.786,0.001,1KG_EUR_AF,OTOF
431871,2:26740521:T>C,NM_194248.2:c.328-1054A>G,\N,\N,4/46,Benign,\N,intron_variant,7.493,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
431872,2:26740522:G>A,NM_194248.2:c.328-1055C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,7.313,0.0023,1KG_AFR_AF,OTOF
431873,2:26740525:C>T,NM_194248.2:c.328-1058G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,5.279,0.0015,1KG_AFR_AF,OTOF
431874,2:26740543:TG>T,NM_194248.2:c.328-1077del,\N,\N,4/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431875,2:26740545:G>C,NM_194248.2:c.328-1078C>G,\N,\N,4/46,Benign,\N,intron_variant,1.01,0.5101,1KG_AMR_AF,OTOF
431876,2:26740552:G>A,NM_194248.2:c.328-1085C>T,\N,\N,4/46,Benign,\N,intron_variant,0.354,0.38,1KG_EAS_AF,OTOF
431877,2:26740566:G>A,NM_194248.2:c.328-1099C>T,\N,\N,4/46,Benign,\N,intron_variant,0.829,0.0215,1KG_SAS_AF,OTOF
431878,2:26740573:G>A,NM_194248.2:c.328-1106C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.604,\N,\N,OTOF
431879,2:26740577:C>A,NM_194248.2:c.328-1110G>T,\N,\N,4/46,Benign,\N,intron_variant,7.351,0.0507,1KG_AFR_AF,OTOF
431880,2:26740577:CC>AA,NM_194248.2:c.328-1111_328-1110delinsTT,\N,\N,4/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431881,2:26740578:C>A,NM_194248.2:c.328-1111G>T,\N,\N,4/46,Benign,\N,intron_variant,5.444,0.0507,1KG_AFR_AF,OTOF
431882,2:26740594:C>A,NM_194248.2:c.328-1127G>T,\N,\N,4/46,Benign,\N,intron_variant,2.523,0.0182,1KG_AFR_AF,OTOF
431883,2:26740595:C>G,NM_194248.2:c.328-1128G>C,\N,\N,4/46,Benign,\N,intron_variant,0.356,0.0089,1KG_EAS_AF,OTOF
431884,2:26740624:T>C,NM_194248.2:c.328-1157A>G,\N,\N,4/46,Benign,\N,intron_variant,3.439,0.5072,1KG_AMR_AF,OTOF
431885,2:26740662:C>T,NM_194248.2:c.328-1195G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.432,\N,\N,OTOF
431886,2:26740663:G>A,NM_194248.2:c.328-1196C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.213,0.0015,1KG_AFR_AF,OTOF
431887,2:26740705:A>T,NM_194248.2:c.327+1173T>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.85,0.0015,1KG_AFR_AF,OTOF
431888,2:26740720:C>T,NM_194248.2:c.327+1158G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.869,0.0008,1KG_AFR_AF,OTOF
431889,2:26740741:G>T,NM_194248.2:c.327+1137C>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.443,0.0029,1KG_AMR_AF,OTOF
431890,2:26740762:T>C,NM_194248.2:c.327+1116A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,2.598,\N,\N,OTOF
431891,2:26740765:C>T,NM_194248.2:c.327+1113G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.332,0.001,1KG_EUR_AF,OTOF
431892,2:26740779:C>T,NM_194248.2:c.327+1099G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.906,\N,\N,OTOF
431893,2:26740817:G>A,NM_194248.2:c.327+1061C>T,\N,\N,4/46,Benign,\N,intron_variant,1.13,0.0153,1KG_SAS_AF,OTOF
431894,2:26740826:T>C,NM_194248.2:c.327+1052A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.825,\N,\N,OTOF
431895,2:26740827:G>A,NM_194248.2:c.327+1051C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,1.312,\N,\N,OTOF
431896,2:26740828:G>A,NM_194248.2:c.327+1050C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.481,0.0008,1KG_AFR_AF,OTOF
431897,2:26740834:C>A,NM_194248.2:c.327+1044G>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.551,\N,\N,OTOF
431898,2:26740864:C>T,NM_194248.2:c.327+1014G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,12.3,\N,\N,OTOF
431899,2:26740876:G>A,NM_194248.2:c.327+1002C>T,\N,\N,4/46,Benign,\N,intron_variant,11.92,0.0092,1KG_SAS_AF,OTOF
431900,2:26740888:G>A,NM_194248.2:c.327+990C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.143,0.004,1KG_EAS_AF,OTOF
431901,2:26740920:G>A,NM_194248.2:c.327+958C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.723,0.0038,1KG_AFR_AF,OTOF
431902,2:26740950:T>C,NM_194248.2:c.327+928A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.786,\N,\N,OTOF
431903,2:26740990:C>G,NM_194248.2:c.327+888G>C,\N,\N,4/46,Unknown significance,\N,intron_variant,9.944,0.0014,1KG_AMR_AF,OTOF
431904,2:26740993:T>C,NM_194248.2:c.327+885A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,4.5,0.001,1KG_EUR_AF,OTOF
431905,2:26741040:C>T,NM_194248.2:c.327+838G>A,\N,\N,4/46,Benign,\N,intron_variant,0.813,0.0787,1KG_AFR_AF,OTOF
431906,2:26741049:A>T,NM_194248.2:c.327+829T>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.263,\N,\N,OTOF
431907,2:26741143:G>A,NM_194248.2:c.327+735C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,10.04,0.001,1KG_EAS_AF,OTOF
431908,2:26741213:T>C,NM_194248.2:c.327+665A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,1.303,\N,\N,OTOF
431909,2:26741217:G>A,NM_194248.2:c.327+661C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,1.858,0.001,1KG_EAS_AF,OTOF
431910,2:26741233:CAGTT>C,NM_194248.2:c.327+641_327+644del,\N,\N,4/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431911,2:26741270:C>T,NM_194248.2:c.327+608G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.949,0.001,1KG_EUR_AF,OTOF
431912,2:26741283:T>A,NM_194248.2:c.327+595A>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.676,0.0014,1KG_AMR_AF,OTOF
431913,2:26741287:G>A,NM_194248.2:c.327+591C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.885,\N,\N,OTOF
431914,2:26741298:A>G,NM_194248.2:c.327+580T>C,\N,\N,4/46,Benign,\N,intron_variant,2.277,0.5823,1KG_EAS_AF,OTOF
431915,2:26741309:C>T,NM_194248.2:c.327+569G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.193,0.0008,1KG_AFR_AF,OTOF
431916,2:26741338:G>A,NM_194248.2:c.327+540C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.05,\N,\N,OTOF
431917,2:26741350:G>A,NM_194248.2:c.327+528C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,5.141,0.002,1KG_SAS_AF,OTOF
431918,2:26741357:G>T,NM_194248.2:c.327+521C>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.963,\N,\N,OTOF
431919,2:26741396:G>C,NM_194248.2:c.327+482C>G,\N,\N,4/46,Benign,\N,intron_variant,0.632,0.5908,1KG_AMR_AF,OTOF
431920,2:26741428:T>C,NM_194248.2:c.327+450A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,0.49,0.001,1KG_EAS_AF|1KG_EUR_AF,OTOF
431921,2:26741430:C>T,NM_194248.2:c.327+448G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.186,\N,\N,OTOF
431922,2:26741432:C>T,NM_194248.2:c.327+446G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.16,0.0015,1KG_AFR_AF,OTOF
431923,2:26741433:G>A,NM_194248.2:c.327+445C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,3.059,0.0014,1KG_AMR_AF,OTOF
431924,2:26741434:C>T,NM_194248.2:c.327+444G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,0.786,\N,\N,OTOF
431925,2:26741435:G>A,NM_194248.2:c.327+443C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,0.853,\N,\N,OTOF
431926,2:26741443:G>A,NM_194248.2:c.327+435C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.325,\N,\N,OTOF
431927,2:26741459:G>A,NM_194248.2:c.327+419C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,6.985,\N,\N,OTOF
431928,2:26741494:C>G,NM_194248.2:c.327+384G>C,\N,\N,4/46,Unknown significance,\N,intron_variant,0.157,\N,\N,OTOF
431929,2:26741505:C>T,NM_194248.2:c.327+373G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.878,\N,\N,OTOF
431930,2:26741521:A>G,NM_194248.2:c.327+357T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,1.946,\N,\N,OTOF
431931,2:26741529:T>C,NM_194248.2:c.327+349A>G,\N,\N,4/46,Unknown significance,\N,intron_variant,2.244,\N,\N,OTOF
431932,2:26741551:G>A,NM_194248.2:c.327+327C>T,\N,\N,4/46,Benign,\N,intron_variant,5.522,0.5575,1KG_EAS_AF,OTOF
431933,2:26741596:T>G,NM_194248.2:c.327+282A>C,\N,\N,4/46,Unknown significance,\N,intron_variant,6.146,\N,\N,OTOF
431934,2:26741598:C>A,NM_194248.2:c.327+280G>T,\N,\N,4/46,Unknown significance,\N,intron_variant,6.629,\N,\N,OTOF
431935,2:26741599:T>A,NM_194248.2:c.327+279A>T,\N,\N,4/46,Unknown significance,\N,intron_variant,5.589,0.0038,1KG_AFR_AF,OTOF
431936,2:26741602:G>C,NM_194248.2:c.327+276C>G,\N,\N,4/46,Benign,\N,intron_variant,1.883,0.0159,1KG_AFR_AF,OTOF
431937,2:26741606:G>T,NM_194248.2:c.327+272C>A,\N,\N,4/46,Unknown significance,\N,intron_variant,5.297,0.001,1KG_EAS_AF,OTOF
431938,2:26741607:G>T,NM_194248.2:c.327+271C>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.813,0.001,1KG_EAS_AF,OTOF
431939,2:26741641:C>T,NM_194248.2:c.327+237G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,1.471,0.001,1KG_SAS_AF,OTOF
431940,2:26741642:G>A,NM_194248.2:c.327+236C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,0.876,\N,\N,OTOF
431941,2:26741672:C>T,NM_194248.2:c.327+206G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,4.245,\N,\N,OTOF
431942,2:26741694:G>A,NM_194248.2:c.327+184C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,2.922,\N,\N,OTOF
431943,2:26741719:G>A,NM_194248.2:c.327+159C>T,\N,\N,4/46,Benign,\N,intron_variant,1.907,0.0424,1KG_AFR_AF,OTOF
431944,2:26741742:C>T,NM_194248.2:c.327+136G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,13.67,\N,\N,OTOF
431945,2:26741768:C>T,NM_194248.2:c.327+110G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,2.54,0.0008,1KG_AFR_AF,OTOF
431946,2:26741769:G>A,NM_194248.2:c.327+109C>T,\N,\N,4/46,Benign,\N,intron_variant,2.11,0.005,1KG_EUR_AF,OTOF
431947,2:26741769:G>C,NM_194248.2:c.327+109C>G,\N,\N,4/46,Benign,\N,intron_variant,0.359,0.0058,1KG_AMR_AF,OTOF
431948,2:26741808:G>T,NM_194248.2:c.327+70C>A,\N,\N,4/46,Benign,\N,intron_variant,3.229,0.143,1KG_AFR_AF,OTOF
431949,2:26741835:G>C,NM_194248.2:c.327+43C>G,\N,\N,4/46,Unknown significance,\N,intron_variant,2.116,0.000258799,EXAC_NFE_AF,OTOF
431950,2:26741844:G>C,NM_194248.2:c.327+34C>G,\N,\N,4/46,Unknown significance,\N,intron_variant,1.426,0.0000418095,EXAC_NFE_AF,OTOF
431951,2:26741847:A>G,NM_194248.2:c.327+31T>C,\N,\N,4/46,Unknown significance,\N,intron_variant,1.398,0.0000408965,EXAC_NFE_AF,OTOF
431952,2:26741853:C>T,NM_194248.2:c.327+25G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,7.123,0.0000391389,EXAC_NFE_AF,OTOF
431953,2:26741854:A>C,NM_194248.2:c.327+24T>G,\N,\N,4/46,Unknown significance,\N,intron_variant,4.406,0.0000384734,EXAC_NFE_AF,OTOF
431954,2:26741861:C>T,NM_194248.2:c.327+17G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,3.6,\N,\N,OTOF
431955,2:26741862:C>T,NM_194248.2:c.327+16G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,5.03,0.0038,1KG_AFR_AF,OTOF
431956,2:26741863:G>A,NM_194248.2:c.327+15C>T,\N,\N,4/46,Unknown significance,\N,intron_variant,9.158,0.001,1KG_EAS_AF,OTOF
431957,2:26741864:T>TG,NM_194248.2:c.327+13dup,\N,\N,4/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
431958,2:26741868:G>T,NM_194248.2:c.327+10C>A,\N,\N,4/46,Unknown significance,\N,intron_variant,13.19,0.0008,1KG_AFR_AF,OTOF
431959,2:26741869:C>T,NM_194248.2:c.327+9G>A,\N,\N,4/46,Unknown significance,\N,intron_variant,15.12,\N,\N,OTOF
431960,2:26741873:C>A,NM_194248.2:c.327+5G>T,\N,\N,4/46,Unknown significance,\N,splice_region_variant&intron_variant,19.44,0.00410846,EXAC_FIN_AF,OTOF
431961,2:26741874:C>T,NM_194248.2:c.327+4G>A,\N,\N,4/46,Unknown significance,\N,splice_region_variant&intron_variant,16.28,0.001,1KG_EUR_AF,OTOF
431962,2:26741876:A>C,NM_194248.2:c.327+2T>G,\N,\N,4/46,Unknown significance,\N,splice_donor_variant,25.4,0.0000269687,EXAC_NFE_AF,OTOF
431963,2:26741879:T>A,NM_194248.2:c.326A>T,NP_919224.1:p.Lys109Met,4/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,24,\N,\N,OTOF
431964,2:26741883:T>C,NM_194248.2:c.322A>G,NP_919224.1:p.Ile108Val,4/47,\N,Unknown significance,\N,missense_variant,14.67,0.00055301,EXAC_SAS_AF,OTOF
431965,2:26741888:G>A,NM_194248.2:c.317C>T,NP_919224.1:p.Ala106Val,4/47,\N,Unknown significance,\N,missense_variant,23.2,0.0000239086,EXAC_NFE_AF,OTOF
431966,2:26741891:T>C,NM_194248.2:c.314A>G,NP_919224.1:p.Asn105Ser,4/47,\N,Unknown significance,\N,missense_variant,23.9,0.001,1KG_EAS_AF,OTOF
431967,2:26741899:A>G,NM_194248.2:c.306T>C,NP_919224.1:p.Asp102=,4/47,\N,Unknown significance,\N,synonymous_variant,8.028,0.000074985,EXAC_SAS_AF,OTOF
431968,2:26741900:T>A,NM_194248.2:c.305A>T,NP_919224.1:p.Asp102Val,4/47,\N,Unknown significance,\N,missense_variant,30,0.0000443066,EXAC_NFE_AF,OTOF
431969,2:26741903:A>G,NM_194248.2:c.302T>C,NP_919224.1:p.Ile101Thr,4/47,\N,Unknown significance,\N,missense_variant,21.2,0.000513347,EXAC_EAS_AF,OTOF
431970,2:26741908:C>T,NM_194248.2:c.297G>A,NP_919224.1:p.Thr99=,4/47,\N,Benign,\N,synonymous_variant,19.08,0.0297,1KG_SAS_AF,OTOF
431971,2:26741909:G>A,NM_001287489.1:c.296C>T,NP_001274418.1:p.Thr99Met,4/46,\N,Unknown significance,\N,missense_variant,24.1,0.00051463,EXAC_SAS_AF,OTOF
431972,2:26741911:G>A,NM_194248.2:c.294C>T,NP_919224.1:p.Asp98=,4/47,\N,Unknown significance,\N,synonymous_variant,9.039,0.000123092,EXAC_AFR_AF,OTOF
431973,2:26741912:T>C,NM_194248.2:c.293A>G,NP_919224.1:p.Asp98Gly,4/47,\N,Unknown significance,\N,missense_variant,27.7,0.000226963,EVS_AA_AF,OTOF
431974,2:26741918:A>C,NM_194248.2:c.287T>G,NP_919224.1:p.Val96Gly,4/47,\N,Benign,\N,missense_variant,26,0.01,OTO_TR_AF,OTOF
431975,2:26741924:A>C,NM_194248.2:c.281T>G,NP_919224.1:p.Val94Gly,4/47,\N,Unknown significance,\N,missense_variant,25.1,0.000210084,EXAC_AMR_AF,OTOF
431976,2:26741926:A>G,NM_194248.2:c.279T>C,NP_919224.1:p.His93=,4/47,\N,Unknown significance,\N,synonymous_variant,0.01,0.001,1KG_EAS_AF,OTOF
431977,2:26741939:A>T,NM_194248.2:c.266T>A,NP_919224.1:p.Val89Glu,4/47,\N,Unknown significance,\N,missense_variant,25.3,0.000021245,EXAC_NFE_AF,OTOF
431978,2:26741942:A>G,NM_194248.2:c.263T>C,NP_919224.1:p.Val88Ala,4/47,\N,Unknown significance,\N,missense_variant,25.2,0.000128205,EXAC_AFR_AF,OTOF
431979,2:26741943:C>T,NM_194248.2:c.262G>A,NP_919224.1:p.Val88Met,4/47,\N,Unknown significance,\N,missense_variant,29.6,0.0008,1KG_AFR_AF,OTOF
431980,2:26741944:C>A,NM_194248.2:c.261G>T,NP_919224.1:p.Lys87Asn,4/47,\N,Unknown significance,\N,missense_variant,22.5,0.001,1KG_SAS_AF,OTOF
431981,2:26741954:A>G,NM_001287489.1:c.251T>C,NP_001274418.1:p.Val84Ala,4/46,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,OTOF
431982,2:26741957:A>G,NM_194248.2:c.248T>C,NP_919224.1:p.Met83Thr,4/47,\N,Unknown significance,\N,missense_variant,26,0.00028885,EXAC_EAS_AF,OTOF
431983,2:26741960:C>T,NM_194248.2:c.245G>A,NP_919224.1:p.Arg82His,4/47,\N,Benign,\N,missense_variant,26.2,0.0083,1KG_AFR_AF,OTOF
431984,2:26741961:G>A,NM_194248.2:c.244C>T,NP_919224.1:p.Arg82Cys,4/47,\N,Benign,\N,missense_variant,22.5,1,OTO_AJ_AF|OTO_CO_AF,OTOF
431985,2:26741962:G>T,NM_194248.2:c.243C>A,NP_919224.1:p.Phe81Leu,4/47,\N,Unknown significance,\N,missense_variant,24.4,0.0000266,EXAC_NFE_AF,OTOF
431986,2:26741968:C>T,NM_194248.2:c.237G>A,NP_919224.1:p.Gly79=,4/47,\N,Benign,\N,synonymous_variant,13.42,0.00623946,EXAC_EAS_AF,OTOF
431987,2:26741970:C>T,NM_194248.2:c.235G>A,NP_919224.1:p.Gly79Arg,4/47,\N,Unknown significance,\N,missense_variant,33,0.000172951,EXAC_EAS_AF,OTOF
431988,2:26741970:C>G,NM_194248.2:c.235G>C,NP_919224.1:p.Gly79Arg,4/47,\N,Benign,\N,missense_variant,32,0.005,OTO_TR_AF,OTOF
431989,2:26741971:G>A,NM_194248.2:c.234C>T,NP_919224.1:p.Ile78=,4/47,\N,Unknown significance,\N,synonymous_variant,11.6,0.00228311,EXAC_AMR_AF,OTOF
431990,2:26741972:A>G,NM_194248.2:c.233T>C,NP_919224.1:p.Ile78Thr,4/47,\N,Unknown significance,\N,missense_variant,24.9,0.00016952,EXAC_SAS_AF,OTOF
431991,2:26741974:G>A,NM_194248.2:c.231C>T,NP_919224.1:p.Leu77=,4/47,\N,Unknown significance,\N,synonymous_variant,1.27,0.000177117,EXAC_EAS_AF,OTOF
431992,2:26741976:G>A,NM_194248.2:c.229C>T,NP_919224.1:p.Leu77Phe,4/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.8,0.000116279,EVS_EA_AF,OTOF
431993,2:26741977:C>T,NM_194248.2:c.228G>A,NP_919224.1:p.Lys76=,4/47,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.31,0.001,1KG_SAS_AF,OTOF
431994,2:26741983:G>A,NM_194248.2:c.228-6C>T,\N,\N,3/46,Unknown significance,\N,splice_region_variant&intron_variant,1.125,0.000190985,EXAC_EAS_AF,OTOF
431995,2:26741993:G>A,NM_194248.2:c.228-16C>T,\N,\N,3/46,Benign,\N,intron_variant,3.454,0.0182,1KG_AFR_AF,OTOF
431996,2:26741994:G>A,NM_194248.2:c.228-17C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.45,0.000185563,EXAC_SAS_AF,OTOF
431997,2:26741999:C>T,NM_194248.2:c.228-22G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.051,0.0000409567,EXAC_NFE_AF,OTOF
431998,2:26742000:G>A,NM_194248.2:c.228-23C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.287,0.00325048,EXAC_SAS_AF,OTOF
431999,2:26742002:T>G,NM_194248.2:c.228-25A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,5.825,0.000189322,EXAC_AFR_AF,OTOF
432000,2:26742014:A>G,NM_194248.2:c.228-37T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,4.885,\N,\N,OTOF
432001,2:26742017:G>T,NM_194248.2:c.228-40C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.612,0.000226963,EVS_AA_AF,OTOF
432002,2:26742024:G>A,NM_194248.2:c.228-47C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.305,0.0031,1KG_SAS_AF,OTOF
432003,2:26742028:G>T,NM_194248.2:c.228-51C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.761,0.000116577,EVS_EA_AF,OTOF
432004,2:26742029:G>A,NM_194248.2:c.228-52C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,8.126,0.000112007,EXAC_SAS_AF,OTOF
432005,2:26742032:C>G,NM_194248.2:c.228-55G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,6.295,\N,\N,OTOF
432006,2:26742061:C>T,NM_194248.2:c.228-84G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.366,0.0008,1KG_AFR_AF,OTOF
432007,2:26742065:G>A,NM_194248.2:c.228-88C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.21,0.0008,1KG_AFR_AF,OTOF
432008,2:26742078:T>G,NM_194248.2:c.228-101A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,4.172,\N,\N,OTOF
432009,2:26742093:T>A,NM_194248.2:c.228-116A>T,\N,\N,3/46,Benign,\N,intron_variant,7.516,0.0144,1KG_AFR_AF,OTOF
432010,2:26742098:G>T,NM_194248.2:c.228-121C>A,\N,\N,3/46,Benign,\N,intron_variant,2.183,0.0051,1KG_SAS_AF,OTOF
432011,2:26742112:G>A,NM_194248.2:c.228-135C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,11,0.0014,1KG_AMR_AF,OTOF
432012,2:26742113:G>C,NM_194248.2:c.228-136C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,7.98,\N,\N,OTOF
432013,2:26742116:G>A,NM_194248.2:c.228-139C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,11.78,0.001,1KG_EAS_AF,OTOF
432014,2:26742127:A>G,NM_194248.2:c.228-150T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.241,0.003,1KG_EUR_AF,OTOF
432015,2:26742167:G>A,NM_194248.2:c.228-190C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.373,\N,\N,OTOF
432016,2:26742168:G>T,NM_194248.2:c.228-191C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.471,0.002,1KG_SAS_AF,OTOF
432017,2:26742169:T>A,NM_194248.2:c.228-192A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.918,\N,\N,OTOF
432018,2:26742206:A>G,NM_194248.2:c.228-229T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.548,\N,\N,OTOF
432019,2:26742208:G>A,NM_194248.2:c.228-231C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.796,\N,\N,OTOF
432020,2:26742245:G>A,NM_194248.2:c.228-268C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.659,\N,\N,OTOF
432021,2:26742370:C>T,NM_194248.2:c.228-393G>A,\N,\N,3/46,Benign,\N,intron_variant,2.281,0.0696,1KG_AFR_AF,OTOF
432022,2:26742378:C>A,NM_194248.2:c.228-401G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.994,\N,\N,OTOF
432023,2:26742380:T>C,NM_194248.2:c.228-403A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.798,0.001,1KG_SAS_AF,OTOF
432024,2:26742403:C>T,NM_194248.2:c.228-426G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.415,0.0008,1KG_AFR_AF,OTOF
432025,2:26742415:C>T,NM_194248.2:c.228-438G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.199,0.001,1KG_SAS_AF,OTOF
432026,2:26742426:C>A,NM_194248.2:c.228-449G>T,\N,\N,3/46,Benign,\N,intron_variant,4.52,0.0492,1KG_AFR_AF,OTOF
432027,2:26742430:T>C,NM_194248.2:c.228-453A>G,\N,\N,3/46,Benign,\N,intron_variant,1.333,0.0325,1KG_AFR_AF,OTOF
432028,2:26742438:C>T,NM_194248.2:c.228-461G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.432,\N,\N,OTOF
432029,2:26742453:T>C,NM_194248.2:c.228-476A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.8,0.0008,1KG_AFR_AF,OTOF
432030,2:26742511:G>A,NM_194248.2:c.228-534C>T,\N,\N,3/46,Benign,\N,intron_variant,0.363,0.6037,1KG_AMR_AF,OTOF
432031,2:26742516:G>A,NM_194248.2:c.228-539C>T,\N,\N,3/46,Benign,\N,intron_variant,2.111,0.0537,1KG_EUR_AF,OTOF
432032,2:26742526:A>G,NM_194248.2:c.228-549T>C,\N,\N,3/46,Benign,\N,intron_variant,1.874,0.0779,1KG_AFR_AF,OTOF
432033,2:26742535:T>A,NM_194248.2:c.228-558A>T,\N,\N,3/46,Benign,\N,intron_variant,7.296,0.5605,1KG_EAS_AF,OTOF
432034,2:26742570:T>C,NM_194248.2:c.228-593A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,3.97,0.0029,1KG_AMR_AF,OTOF
432035,2:26742628:G>A,NM_194248.2:c.228-651C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.877,0.0041,1KG_SAS_AF,OTOF
432036,2:26742654:T>G,NM_194248.2:c.228-677A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,4.84,\N,\N,OTOF
432037,2:26742660:C>T,NM_194248.2:c.228-683G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.754,\N,\N,OTOF
432038,2:26742662:A>G,NM_194248.2:c.228-685T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.477,0.001,1KG_SAS_AF,OTOF
432039,2:26742704:C>G,NM_194248.2:c.228-727G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.141,\N,\N,OTOF
432040,2:26742704:C>T,NM_194248.2:c.228-727G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.289,\N,\N,OTOF
432041,2:26742730:A>C,NM_194248.2:c.228-753T>G,\N,\N,3/46,Benign,\N,intron_variant,2.822,0.0325,1KG_AFR_AF,OTOF
432042,2:26742733:C>T,NM_194248.2:c.228-756G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.712,0.002,1KG_EAS_AF,OTOF
432043,2:26742738:A>C,NM_194248.2:c.228-761T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.792,\N,\N,OTOF
432044,2:26742755:C>T,NM_194248.2:c.228-778G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.04,\N,\N,OTOF
432045,2:26742756:G>A,NM_194248.2:c.228-779C>T,\N,\N,3/46,Benign,\N,intron_variant,1.331,0.3065,1KG_EAS_AF,OTOF
432046,2:26742766:G>A,NM_194248.2:c.228-789C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.257,\N,\N,OTOF
432047,2:26742777:T>C,NM_194248.2:c.228-800A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.971,0.0015,1KG_AFR_AF,OTOF
432048,2:26742787:C>T,NM_194248.2:c.228-810G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.776,0.001,1KG_EUR_AF,OTOF
432049,2:26742807:T>C,NM_194248.2:c.228-830A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.193,0.002,1KG_SAS_AF,OTOF
432050,2:26742807:T>TG,NM_194248.2:c.228-831dup,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432051,2:26742810:G>T,NM_194248.2:c.228-833C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.355,\N,\N,OTOF
432052,2:26742826:T>C,NM_194248.2:c.228-849A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.719,0.002,1KG_EAS_AF,OTOF
432053,2:26742866:T>A,NM_194248.2:c.228-889A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.769,0.002,1KG_SAS_AF,OTOF
432054,2:26742891:A>G,NM_194248.2:c.228-914T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,14.58,0.0023,1KG_AFR_AF,OTOF
432055,2:26742905:A>G,NM_194248.2:c.228-928T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,15.2,\N,\N,OTOF
432056,2:26742935:A>C,NM_194248.2:c.228-958T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.812,\N,\N,OTOF
432057,2:26742938:G>A,NM_194248.2:c.228-961C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.473,\N,\N,OTOF
432058,2:26742938:G>T,NM_194248.2:c.228-961C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.568,0.002,1KG_SAS_AF,OTOF
432059,2:26742959:G>GT,NM_194248.2:c.228-983dup,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432060,2:26743025:T>C,NM_194248.2:c.228-1048A>G,\N,\N,3/46,Benign,\N,intron_variant,3.314,0.1135,1KG_AFR_AF,OTOF
432061,2:26743028:A>G,NM_194248.2:c.228-1051T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.251,\N,\N,OTOF
432062,2:26743039:C>T,NM_194248.2:c.228-1062G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.527,0.002,1KG_EAS_AF,OTOF
432063,2:26743080:C>T,NM_194248.2:c.228-1103G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.083,\N,\N,OTOF
432064,2:26743086:C>T,NM_194248.2:c.228-1109G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.276,\N,\N,OTOF
432065,2:26743087:G>A,NM_194248.2:c.228-1110C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.34,0.001,1KG_EAS_AF,OTOF
432066,2:26743091:G>T,NM_194248.2:c.228-1114C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.82,0.0008,1KG_AFR_AF,OTOF
432067,2:26743106:C>A,NM_194248.2:c.228-1129G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.563,0.0008,1KG_AFR_AF,OTOF
432068,2:26743118:T>G,NM_194248.2:c.228-1141A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.846,0.001,1KG_EAS_AF,OTOF
432069,2:26743198:G>A,NM_194248.2:c.228-1221C>T,\N,\N,3/46,Benign,\N,intron_variant,3.62,0.1127,1KG_AFR_AF,OTOF
432070,2:26743233:A>G,NM_194248.2:c.228-1256T>C,\N,\N,3/46,Benign,\N,intron_variant,0.241,0.0144,1KG_AFR_AF,OTOF
432071,2:26743237:G>A,NM_194248.2:c.228-1260C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.616,0.0015,1KG_AFR_AF,OTOF
432072,2:26743241:C>G,NM_194248.2:c.228-1264G>C,\N,\N,3/46,Benign,\N,intron_variant,2.047,1,1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,OTOF
432073,2:26743244:G>A,NM_194248.2:c.228-1267C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.111,\N,\N,OTOF
432074,2:26743271:G>A,NM_194248.2:c.228-1294C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,11.32,\N,\N,OTOF
432075,2:26743281:G>A,NM_194248.2:c.228-1304C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,12.12,\N,\N,OTOF
432076,2:26743288:T>A,NM_194248.2:c.228-1311A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.871,\N,\N,OTOF
432077,2:26743316:G>A,NM_194248.2:c.228-1339C>T,\N,\N,3/46,Benign,\N,intron_variant,4.197,0.0238,1KG_EAS_AF,OTOF
432078,2:26743333:C>T,NM_194248.2:c.228-1356G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.438,\N,\N,OTOF
432079,2:26743334:C>T,NM_194248.2:c.228-1357G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.449,0.0045,1KG_AFR_AF,OTOF
432080,2:26743335:A>G,NM_194248.2:c.228-1358T>C,\N,\N,3/46,Benign,\N,intron_variant,0.064,0.9827,1KG_AMR_AF,OTOF
432081,2:26743335:A>T,NM_194248.2:c.228-1358T>A,\N,\N,3/46,Benign,\N,intron_variant,0.046,0.0547,1KG_EUR_AF,OTOF
432082,2:26743341:A>C,NM_194248.2:c.228-1364T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.239,0.0008,1KG_AFR_AF,OTOF
432083,2:26743387:A>T,NM_194248.2:c.228-1410T>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.234,0.0015,1KG_AFR_AF,OTOF
432084,2:26743421:A>G,NM_194248.2:c.228-1444T>C,\N,\N,3/46,Benign,\N,intron_variant,4.072,0.0068,1KG_AFR_AF,OTOF
432085,2:26743422:C>T,NM_194248.2:c.228-1445G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.81,\N,\N,OTOF
432086,2:26743423:G>A,NM_194248.2:c.228-1446C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.114,0.0015,1KG_AFR_AF,OTOF
432087,2:26743429:CCTT>C,NM_194248.2:c.228-1455_228-1453del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432088,2:26743437:C>T,NM_194248.2:c.228-1460G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.539,0.002,1KG_EAS_AF,OTOF
432089,2:26743445:G>A,NM_194248.2:c.228-1468C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.18,0.0015,1KG_AFR_AF,OTOF
432090,2:26743445:G>T,NM_194248.2:c.228-1468C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.049,\N,\N,OTOF
432091,2:26743462:C>T,NM_194248.2:c.228-1485G>A,\N,\N,3/46,Benign,\N,intron_variant,2.445,1,1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,OTOF
432092,2:26743501:T>C,NM_194248.2:c.228-1524A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.046,0.0014,1KG_AMR_AF,OTOF
432093,2:26743548:C>T,NM_194248.2:c.228-1571G>A,\N,\N,3/46,Benign,\N,intron_variant,5.161,0.0086,1KG_AMR_AF,OTOF
432094,2:26743554:G>A,NM_194248.2:c.228-1577C>T,\N,\N,3/46,Benign,\N,intron_variant,5.992,0.0106,1KG_AFR_AF,OTOF
432095,2:26743578:C>A,NM_194248.2:c.228-1601G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.67,0.0014,1KG_AMR_AF,OTOF
432096,2:26743583:G>T,NM_194248.2:c.228-1606C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.274,0.001,1KG_EAS_AF,OTOF
432097,2:26743594:G>A,NM_194248.2:c.228-1617C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,8.862,0.0031,1KG_SAS_AF,OTOF
432098,2:26743599:T>C,NM_194248.2:c.228-1622A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,8.454,0.002,1KG_SAS_AF,OTOF
432099,2:26743656:G>A,NM_194248.2:c.228-1679C>T,\N,\N,3/46,Benign,\N,intron_variant,0.612,0.5159,1KG_AMR_AF,OTOF
432100,2:26743664:C>T,NM_194248.2:c.228-1687G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.148,0.0008,1KG_AFR_AF,OTOF
432101,2:26743665:G>A,NM_194248.2:c.228-1688C>T,\N,\N,3/46,Benign,\N,intron_variant,0.286,0.0061,1KG_AFR_AF,OTOF
432102,2:26743716:A>G,NM_194248.2:c.228-1739T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,6.082,0.003,1KG_AFR_AF,OTOF
432103,2:26743721:A>G,NM_194248.2:c.228-1744T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.335,\N,\N,OTOF
432104,2:26743732:A>G,NM_194248.2:c.228-1755T>C,\N,\N,3/46,Benign,\N,intron_variant,9.603,0.0144,1KG_AFR_AF,OTOF
432105,2:26743763:C>T,NM_194248.2:c.228-1786G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,12.04,0.0015,1KG_AFR_AF,OTOF
432106,2:26743779:C>T,NM_194248.2:c.228-1802G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.273,0.0008,1KG_AFR_AF,OTOF
432107,2:26743780:G>A,NM_194248.2:c.228-1803C>T,\N,\N,3/46,Benign,\N,intron_variant,1.474,0.3075,1KG_EAS_AF,OTOF
432108,2:26743791:C>T,NM_194248.2:c.228-1814G>A,\N,\N,3/46,Benign,\N,intron_variant,1.729,0.0115,1KG_AMR_AF,OTOF
432109,2:26743819:G>A,NM_194248.2:c.228-1842C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.851,0.0008,1KG_AFR_AF,OTOF
432110,2:26743906:T>G,NM_194248.2:c.228-1929A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.352,0.001,1KG_EAS_AF,OTOF
432111,2:26743921:C>A,NM_194248.2:c.228-1944G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.092,0.001,1KG_EUR_AF,OTOF
432112,2:26743937:G>A,NM_194248.2:c.228-1960C>T,\N,\N,3/46,Benign,\N,intron_variant,0.85,0.0258,1KG_EAS_AF,OTOF
432113,2:26743940:C>A,NM_194248.2:c.228-1963G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.61,0.001,1KG_SAS_AF,OTOF
432114,2:26743986:G>C,NM_194248.2:c.228-2009C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.28,\N,\N,OTOF
432115,2:26744003:G>A,NM_194248.2:c.228-2026C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,8.557,\N,\N,OTOF
432116,2:26744026:C>T,NM_194248.2:c.228-2049G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,12.95,\N,\N,OTOF
432117,2:26744081:T>G,NM_194248.2:c.228-2104A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.625,0.002,1KG_EAS_AF,OTOF
432118,2:26744119:C>T,NM_194248.2:c.228-2142G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.956,0.001,1KG_EUR_AF,OTOF
432119,2:26744133:C>A,NM_194248.2:c.228-2156G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.214,0.002,1KG_EAS_AF,OTOF
432120,2:26744148:C>T,NM_194248.2:c.228-2171G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.299,0.001,1KG_EUR_AF,OTOF
432121,2:26744149:G>A,NM_194248.2:c.228-2172C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.829,0.001,1KG_EUR_AF,OTOF
432122,2:26744155:C>T,NM_194248.2:c.228-2178G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.844,0.004,1KG_EAS_AF,OTOF
432123,2:26744156:G>A,NM_194248.2:c.228-2179C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.84,\N,\N,OTOF
432124,2:26744171:T>C,NM_194248.2:c.228-2194A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,7.714,\N,\N,OTOF
432125,2:26744174:C>G,NM_194248.2:c.228-2197G>C,\N,\N,3/46,Benign,\N,intron_variant,5.517,0.0051,1KG_SAS_AF,OTOF
432126,2:26744221:C>A,NM_194248.2:c.228-2244G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.933,0.001,1KG_EUR_AF,OTOF
432127,2:26744296:C>T,NM_194248.2:c.228-2319G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,8.363,0.001,1KG_EUR_AF,OTOF
432128,2:26744319:C>G,NM_194248.2:c.228-2342G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.92,0.002,1KG_SAS_AF,OTOF
432129,2:26744373:C>T,NM_194248.2:c.228-2396G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.881,0.0014,1KG_AMR_AF,OTOF
432130,2:26744384:G>A,NM_194248.2:c.228-2407C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.433,\N,\N,OTOF
432131,2:26744393:C>T,NM_194248.2:c.228-2416G>A,\N,\N,3/46,Benign,\N,intron_variant,5.528,0.0076,1KG_AFR_AF,OTOF
432132,2:26744414:T>C,NM_194248.2:c.228-2437A>G,\N,\N,3/46,Benign,\N,intron_variant,1.071,0.0136,1KG_AFR_AF,OTOF
432133,2:26744429:C>G,NM_194248.2:c.228-2452G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,4.841,0.0008,1KG_AFR_AF,OTOF
432134,2:26744437:T>C,NM_194248.2:c.228-2460A>G,\N,\N,3/46,Benign,\N,intron_variant,1.242,0.5486,1KG_EAS_AF,OTOF
432135,2:26744463:G>A,NM_194248.2:c.228-2486C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.548,0.0008,1KG_AFR_AF,OTOF
432136,2:26744502:C>T,NM_194248.2:c.228-2525G>A,\N,\N,3/46,Benign,\N,intron_variant,8.399,0.0143,1KG_SAS_AF,OTOF
432137,2:26744504:C>T,NM_194248.2:c.228-2527G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.21,0.0008,1KG_AFR_AF,OTOF
432138,2:26744507:T>A,NM_194248.2:c.228-2530A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.356,\N,\N,OTOF
432139,2:26744517:A>G,NM_194248.2:c.228-2540T>C,\N,\N,3/46,Benign,\N,intron_variant,2.361,1,1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,OTOF
432140,2:26744538:C>T,NM_194248.2:c.228-2561G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.809,0.001,1KG_EUR_AF,OTOF
432141,2:26744588:C>A,NM_194248.2:c.228-2611G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.857,0.0014,1KG_AMR_AF,OTOF
432142,2:26744647:T>C,NM_194248.2:c.228-2670A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.215,\N,\N,OTOF
432143,2:26744664:G>A,NM_194248.2:c.228-2687C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.956,0.002,1KG_EAS_AF,OTOF
432144,2:26744708:C>T,NM_194248.2:c.228-2731G>A,\N,\N,3/46,Benign,\N,intron_variant,4.559,0.0129,1KG_AFR_AF,OTOF
432145,2:26744728:C>T,NM_194248.2:c.228-2751G>A,\N,\N,3/46,Benign,\N,intron_variant,1.477,0.0666,1KG_AFR_AF,OTOF
432146,2:26744756:C>T,NM_194248.2:c.228-2779G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.162,\N,\N,OTOF
432147,2:26744759:C>A,NM_194248.2:c.228-2782G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.324,0.001,1KG_EUR_AF,OTOF
432148,2:26744760:T>A,NM_194248.2:c.228-2783A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.566,0.001,1KG_EUR_AF,OTOF
432149,2:26744762:A>T,NM_194248.2:c.228-2785T>A,\N,\N,3/46,Benign,\N,intron_variant,0.582,0.0113,1KG_AFR_AF,OTOF
432150,2:26744786:G>T,NM_194248.2:c.228-2809C>A,\N,\N,3/46,Benign,\N,intron_variant,0.227,0.1135,1KG_AFR_AF,OTOF
432151,2:26744810:C>G,NM_194248.2:c.228-2833G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.367,\N,\N,OTOF
432152,2:26744830:G>A,NM_194248.2:c.228-2853C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.933,\N,\N,OTOF
432153,2:26744843:G>C,NM_194248.2:c.228-2866C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,3.24,\N,\N,OTOF
432154,2:26744853:A>G,NM_194248.2:c.228-2876T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.289,0.001,1KG_EUR_AF,OTOF
432155,2:26744856:G>A,NM_194248.2:c.228-2879C>T,\N,\N,3/46,Benign,\N,intron_variant,2,0.2973,1KG_AFR_AF,OTOF
432156,2:26744859:C>T,NM_194248.2:c.228-2882G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.801,0.001,1KG_SAS_AF,OTOF
432157,2:26744874:G>C,NM_194248.2:c.228-2897C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.757,0.001,1KG_EAS_AF,OTOF
432158,2:26744916:A>G,NM_194248.2:c.228-2939T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.476,\N,\N,OTOF
432159,2:26744926:C>G,NM_194248.2:c.228-2949G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.529,0.003,1KG_AFR_AF,OTOF
432160,2:26744932:C>G,NM_194248.2:c.228-2955G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.631,\N,\N,OTOF
432161,2:26744933:G>A,NM_194248.2:c.228-2956C>T,\N,\N,3/46,Benign,\N,intron_variant,1.118,0.0061,1KG_SAS_AF,OTOF
432162,2:26744969:A>C,NM_194248.2:c.228-2992T>G,\N,\N,3/46,Benign,\N,intron_variant,1.905,0.0166,1KG_AFR_AF,OTOF
432163,2:26744976:C>T,NM_194248.2:c.228-2999G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.507,0.002,1KG_SAS_AF,OTOF
432164,2:26744977:G>A,NM_194248.2:c.228-3000C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.18,\N,\N,OTOF
432165,2:26744978:C>CT,NM_194248.2:c.228-3002dup,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432166,2:26745018:T>C,NM_194248.2:c.228-3041A>G,\N,\N,3/46,Benign,\N,intron_variant,2.464,0.0091,1KG_AFR_AF,OTOF
432167,2:26745029:C>CT,NM_194248.2:c.228-3053dup,\N,\N,3/46,Unknown significance,\N,intron_variant,4.38,\N,\N,OTOF
432168,2:26745029:C>CTT,NM_194248.2:c.228-3054_228-3053dup,\N,\N,3/46,Unknown significance,\N,intron_variant,4.208,\N,\N,OTOF
432169,2:26745036:G>A,NM_194248.2:c.228-3059C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.512,0.001,1KG_EAS_AF|1KG_EUR_AF,OTOF
432170,2:26745036:GGT>G,NM_194248.2:c.228-3061_228-3060del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432171,2:26745082:G>T,NM_194248.2:c.228-3105C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.036,\N,\N,OTOF
432172,2:26745091:A>G,NM_194248.2:c.228-3114T>C,\N,\N,3/46,Benign,\N,intron_variant,1.156,0.0091,1KG_AFR_AF,OTOF
432173,2:26745100:G>A,NM_194248.2:c.228-3123C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.373,\N,\N,OTOF
432174,2:26745149:G>A,NM_194248.2:c.228-3172C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.12,0.001,1KG_SAS_AF,OTOF
432175,2:26745159:A>C,NM_194248.2:c.228-3182T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.077,\N,\N,OTOF
432176,2:26745201:C>CA,NM_194248.2:c.228-3225dup,\N,\N,3/46,Benign,\N,intron_variant,11.86,0.298,1KG_AFR_AF,OTOF
432177,2:26745290:G>A,NM_194248.2:c.228-3313C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.89,0.0015,1KG_AFR_AF,OTOF
432178,2:26745298:T>C,NM_194248.2:c.228-3321A>G,\N,\N,3/46,Benign,\N,intron_variant,1.753,0.0626,1KG_EUR_AF,OTOF
432179,2:26745328:G>A,NM_194248.2:c.228-3351C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.221,\N,\N,OTOF
432180,2:26745378:C>T,NM_194248.2:c.228-3401G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.648,\N,\N,OTOF
432181,2:26745379:G>A,NM_194248.2:c.228-3402C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.441,\N,\N,OTOF
432182,2:26745383:C>T,NM_194248.2:c.228-3406G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.465,0.0008,1KG_AFR_AF,OTOF
432183,2:26745403:T>C,NM_194248.2:c.228-3426A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,3.624,\N,\N,OTOF
432184,2:26745412:A>G,NM_194248.2:c.228-3435T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.505,0.001,1KG_EAS_AF,OTOF
432185,2:26745416:A>G,NM_194248.2:c.228-3439T>C,\N,\N,3/46,Benign,\N,intron_variant,1.872,0.0098,1KG_AFR_AF,OTOF
432186,2:26745463:G>A,NM_194248.2:c.228-3486C>T,\N,\N,3/46,Benign,\N,intron_variant,1.039,0.0068,1KG_AFR_AF,OTOF
432187,2:26745471:G>C,NM_194248.2:c.228-3494C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.838,\N,\N,OTOF
432188,2:26745477:A>G,NM_194248.2:c.228-3500T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.937,0.0015,1KG_AFR_AF,OTOF
432189,2:26745482:G>A,NM_194248.2:c.228-3505C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.424,0.003,1KG_EAS_AF,OTOF
432190,2:26745533:T>C,NM_194248.2:c.228-3556A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.799,0.0015,1KG_AFR_AF,OTOF
432191,2:26745536:A>G,NM_194248.2:c.228-3559T>C,\N,\N,3/46,Benign,\N,intron_variant,0.785,0.5466,1KG_EAS_AF,OTOF
432192,2:26745562:T>C,NM_194248.2:c.228-3585A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.751,\N,\N,OTOF
432193,2:26745563:G>T,NM_194248.2:c.228-3586C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.542,0.001,1KG_EAS_AF,OTOF
432194,2:26745564:T>C,NM_194248.2:c.228-3587A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.569,\N,\N,OTOF
432195,2:26745582:C>A,NM_194248.2:c.228-3605G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.172,\N,\N,OTOF
432196,2:26745584:G>T,NM_194248.2:c.228-3607C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.715,0.001,1KG_EUR_AF,OTOF
432197,2:26745585:G>A,NM_194248.2:c.228-3608C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.759,\N,\N,OTOF
432198,2:26745609:C>T,NM_194248.2:c.228-3632G>A,\N,\N,3/46,Benign,\N,intron_variant,2.562,0.0129,1KG_EUR_AF,OTOF
432199,2:26745735:C>T,NM_194248.2:c.228-3758G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.868,\N,\N,OTOF
432200,2:26745763:AC>A,NM_194248.2:c.228-3787del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432201,2:26745785:G>A,NM_194248.2:c.228-3808C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.026,0.002,1KG_EUR_AF,OTOF
432202,2:26745788:C>G,NM_194248.2:c.228-3811G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.057,\N,\N,OTOF
432203,2:26745791:C>T,NM_194248.2:c.228-3814G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.9,0.001,1KG_EAS_AF,OTOF
432204,2:26745792:G>A,NM_194248.2:c.228-3815C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.664,0.001,1KG_EAS_AF,OTOF
432205,2:26745802:G>C,NM_194248.2:c.228-3825C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.305,0.001,1KG_EUR_AF,OTOF
432206,2:26745803:C>T,NM_194248.2:c.228-3826G>A,\N,\N,3/46,Benign,\N,intron_variant,3.881,0.0079,1KG_EAS_AF,OTOF
432207,2:26745838:C>T,NM_194248.2:c.228-3861G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.464,\N,\N,OTOF
432208,2:26745839:G>A,NM_194248.2:c.228-3862C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.445,\N,\N,OTOF
432209,2:26745850:G>T,NM_194248.2:c.228-3873C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,6.187,0.001,1KG_EAS_AF,OTOF
432210,2:26745868:C>A,NM_194248.2:c.228-3891G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,10.01,0.002,1KG_SAS_AF,OTOF
432211,2:26745891:C>T,NM_194248.2:c.228-3914G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,13.73,\N,\N,OTOF
432212,2:26745902:C>T,NM_194248.2:c.228-3925G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,20.8,0.0014,1KG_AMR_AF,OTOF
432213,2:26745918:A>T,NM_194248.2:c.228-3941T>A,\N,\N,3/46,Unknown significance,\N,intron_variant,21.6,\N,\N,OTOF
432214,2:26745924:C>A,NM_194248.2:c.228-3947G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,20.8,\N,\N,OTOF
432215,2:26745946:G>A,NM_194248.2:c.228-3969C>T,\N,\N,3/46,Benign,\N,intron_variant,11.97,0.0113,1KG_AFR_AF,OTOF
432216,2:26745963:C>A,NM_194248.2:c.228-3986G>T,\N,\N,3/46,Benign,\N,intron_variant,5.377,0.0101,1KG_AMR_AF,OTOF
432217,2:26745968:C>T,NM_194248.2:c.228-3991G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.915,\N,\N,OTOF
432218,2:26746025:C>T,NM_194248.2:c.228-4048G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,5.158,\N,\N,OTOF
432219,2:26746050:A>G,NM_194248.2:c.228-4073T>C,\N,\N,3/46,Benign,\N,intron_variant,4.725,0.0303,1KG_AFR_AF,OTOF
432220,2:26746054:A>G,NM_194248.2:c.228-4077T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.104,0.0008,1KG_AFR_AF,OTOF
432221,2:26746068:C>T,NM_194248.2:c.228-4091G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,8.095,0.0008,1KG_AFR_AF,OTOF
432222,2:26746069:G>A,NM_194248.2:c.228-4092C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.627,0.0014,1KG_AMR_AF,OTOF
432223,2:26746081:C>T,NM_194248.2:c.228-4104G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,8.148,0.001,1KG_SAS_AF,OTOF
432224,2:26746087:G>A,NM_194248.2:c.228-4110C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.957,\N,\N,OTOF
432225,2:26746088:C>T,NM_194248.2:c.228-4111G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,5.679,\N,\N,OTOF
432226,2:26746136:G>A,NM_194248.2:c.228-4159C>T,\N,\N,3/46,Benign,\N,intron_variant,1.187,0.0303,1KG_AFR_AF,OTOF
432227,2:26746149:G>A,NM_194248.2:c.228-4172C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.547,0.0014,1KG_AMR_AF,OTOF
432228,2:26746164:C>T,NM_194248.2:c.228-4187G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.408,\N,\N,OTOF
432229,2:26746185:G>T,NM_194248.2:c.228-4208C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.499,0.001,1KG_EAS_AF,OTOF
432230,2:26746192:G>A,NM_194248.2:c.228-4215C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.613,\N,\N,OTOF
432231,2:26746210:C>A,NM_194248.2:c.228-4233G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.962,0.0015,1KG_AFR_AF,OTOF
432232,2:26746314:C>T,NM_194248.2:c.228-4337G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.378,0.002,1KG_SAS_AF,OTOF
432233,2:26746332:G>C,NM_194248.2:c.228-4355C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,10.84,\N,\N,OTOF
432234,2:26746349:G>A,NM_194248.2:c.227+4351C>T,\N,\N,3/46,Benign,\N,intron_variant,0.549,0.006,1KG_EAS_AF,OTOF
432235,2:26746366:C>T,NM_194248.2:c.227+4334G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,5.42,\N,\N,OTOF
432236,2:26746374:G>A,NM_194248.2:c.227+4326C>T,\N,\N,3/46,Benign,\N,intron_variant,1.791,0.0182,1KG_AFR_AF,OTOF
432237,2:26746394:G>C,NM_194248.2:c.227+4306C>G,\N,\N,3/46,Benign,\N,intron_variant,0.059,0.0626,1KG_EUR_AF,OTOF
432238,2:26746420:A>G,NM_194248.2:c.227+4280T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.864,0.0023,1KG_AFR_AF,OTOF
432239,2:26746422:G>A,NM_194248.2:c.227+4278C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.034,0.0014,1KG_AMR_AF,OTOF
432240,2:26746432:G>A,NM_194248.2:c.227+4268C>T,\N,\N,3/46,Benign,\N,intron_variant,1.419,0.0417,1KG_EUR_AF,OTOF
432241,2:26746443:G>T,NM_194248.2:c.227+4257C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.397,0.0023,1KG_AFR_AF,OTOF
432242,2:26746446:T>C,NM_194248.2:c.227+4254A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.959,0.0015,1KG_AFR_AF,OTOF
432243,2:26746468:A>AG,NM_194248.2:c.227+4231dup,\N,\N,3/46,Benign,\N,intron_variant,0.198,0.0303,1KG_AFR_AF,OTOF
432244,2:26746468:AG>A,NM_194248.2:c.227+4231del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432245,2:26746470:G>A,NM_194248.2:c.227+4230C>T,\N,\N,3/46,Benign,\N,intron_variant,1.167,0.0083,1KG_AFR_AF,OTOF
432246,2:26746479:C>T,NM_194248.2:c.227+4221G>A,\N,\N,3/46,Benign,\N,intron_variant,0.209,0.0159,1KG_AFR_AF,OTOF
432247,2:26746495:G>T,NM_194248.2:c.227+4205C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.264,\N,\N,OTOF
432248,2:26746515:T>C,NM_194248.2:c.227+4185A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.012,\N,\N,OTOF
432249,2:26746518:C>A,NM_194248.2:c.227+4182G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.724,0.0008,1KG_AFR_AF,OTOF
432250,2:26746519:C>A,NM_194248.2:c.227+4181G>T,\N,\N,3/46,Benign,\N,intron_variant,5.217,0.0069,1KG_EAS_AF,OTOF
432251,2:26746542:G>T,NM_194248.2:c.227+4158C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.651,\N,\N,OTOF
432252,2:26746600:T>C,NM_194248.2:c.227+4100A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.98,\N,\N,OTOF
432253,2:26746614:G>T,NM_194248.2:c.227+4086C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.524,0.001,1KG_EUR_AF,OTOF
432254,2:26746632:G>A,NM_194248.2:c.227+4068C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,7.019,0.0029,1KG_AMR_AF,OTOF
432255,2:26746666:A>G,NM_194248.2:c.227+4034T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.607,\N,\N,OTOF
432256,2:26746674:G>C,NM_194248.2:c.227+4026C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.326,\N,\N,OTOF
432257,2:26746734:T>C,NM_194248.2:c.227+3966A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.44,0.004,1KG_EAS_AF,OTOF
432258,2:26746744:T>C,NM_194248.2:c.227+3956A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.42,0.001,1KG_EAS_AF,OTOF
432259,2:26746754:C>T,NM_194248.2:c.227+3946G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.614,0.0008,1KG_AFR_AF,OTOF
432260,2:26746774:G>A,NM_194248.2:c.227+3926C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.337,0.002,1KG_SAS_AF,OTOF
432261,2:26746815:ACT>A,NM_194248.2:c.227+3883_227+3884del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432262,2:26746818:C>T,NM_194248.2:c.227+3882G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,5.62,0.001,1KG_SAS_AF,OTOF
432263,2:26746827:A>G,NM_194248.2:c.227+3873T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,7.068,\N,\N,OTOF
432264,2:26746841:GTCAGCCTGGGCCTGTGC>G,NM_194248.2:c.227+3842_227+3858del,\N,\N,3/46,Benign,\N,intron_variant,7.585,0.0076,1KG_AFR_AF,OTOF
432265,2:26746844:A>G,NM_194248.2:c.227+3856T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.879,0.001,1KG_SAS_AF,OTOF
432266,2:26746901:C>T,NM_194248.2:c.227+3799G>A,\N,\N,3/46,Benign,\N,intron_variant,5.135,0.0076,1KG_AFR_AF,OTOF
432267,2:26746934:A>G,NM_194248.2:c.227+3766T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.562,0.001,1KG_EUR_AF,OTOF
432268,2:26746957:C>G,NM_194248.2:c.227+3743G>C,\N,\N,3/46,Benign,\N,intron_variant,2.28,0.0357,1KG_EAS_AF,OTOF
432269,2:26746966:G>C,NM_194248.2:c.227+3734C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.266,\N,\N,OTOF
432270,2:26746968:C>T,NM_194248.2:c.227+3732G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.567,0.001,1KG_EAS_AF,OTOF
432271,2:26746989:G>A,NM_194248.2:c.227+3711C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,11.86,0.001,1KG_EAS_AF,OTOF
432272,2:26747034:G>T,NM_194248.2:c.227+3666C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.352,\N,\N,OTOF
432273,2:26747036:T>C,NM_194248.2:c.227+3664A>G,\N,\N,3/46,Benign,\N,intron_variant,0.493,0.0076,1KG_AFR_AF,OTOF
432274,2:26747048:C>T,NM_194248.2:c.227+3652G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,8.123,\N,\N,OTOF
432275,2:26747092:C>T,NM_194248.2:c.227+3608G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.355,0.001,1KG_EAS_AF,OTOF
432276,2:26747093:AGGCTGGATTTGGT>A,NM_194248.2:c.227+3594_227+3606del,\N,\N,3/46,Benign,\N,intron_variant,0.92,0.0194,1KG_SAS_AF,OTOF
432277,2:26747101:T>C,NM_194248.2:c.227+3599A>G,\N,\N,3/46,Benign,\N,intron_variant,0.476,0.3011,1KG_AFR_AF,OTOF
432278,2:26747107:G>A,NM_194248.2:c.227+3593C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.407,\N,\N,OTOF
432279,2:26747108:G>C,NM_194248.2:c.227+3592C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.172,\N,\N,OTOF
432280,2:26747145:G>A,NM_194248.2:c.227+3555C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.876,\N,\N,OTOF
432281,2:26747166:A>G,NM_194248.2:c.227+3534T>C,\N,\N,3/46,Benign,\N,intron_variant,1.295,0.0129,1KG_EUR_AF,OTOF
432282,2:26747173:C>T,NM_194248.2:c.227+3527G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.384,\N,\N,OTOF
432283,2:26747174:G>C,NM_194248.2:c.227+3526C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.119,\N,\N,OTOF
432284,2:26747202:C>T,NM_194248.2:c.227+3498G>A,\N,\N,3/46,Benign,\N,intron_variant,3.385,0.0076,1KG_AFR_AF,OTOF
432285,2:26747234:A>G,NM_194248.2:c.227+3466T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.644,\N,\N,OTOF
432286,2:26747245:C>T,NM_194248.2:c.227+3455G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.537,\N,\N,OTOF
432287,2:26747251:C>T,NM_194248.2:c.227+3449G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.532,0.0008,1KG_AFR_AF,OTOF
432288,2:26747252:C>T,NM_194248.2:c.227+3448G>A,\N,\N,3/46,Benign,\N,intron_variant,0.599,0.005,1KG_EUR_AF,OTOF
432289,2:26747270:G>A,NM_194248.2:c.227+3430C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.203,0.001,1KG_SAS_AF,OTOF
432290,2:26747326:G>A,NM_194248.2:c.227+3374C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.344,0.0023,1KG_AFR_AF,OTOF
432291,2:26747333:G>T,NM_194248.2:c.227+3367C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.022,\N,\N,OTOF
432292,2:26747343:C>A,NM_194248.2:c.227+3357G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.468,0.0008,1KG_AFR_AF,OTOF
432293,2:26747400:A>G,NM_194248.2:c.227+3300T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.97,0.002,1KG_SAS_AF,OTOF
432294,2:26747407:A>G,NM_194248.2:c.227+3293T>C,\N,\N,3/46,Benign,\N,intron_variant,0.174,0.501,1KG_EUR_AF,OTOF
432295,2:26747440:G>A,NM_194248.2:c.227+3260C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.239,\N,\N,OTOF
432296,2:26747441:G>T,NM_194248.2:c.227+3259C>A,\N,\N,3/46,Benign,\N,intron_variant,0.721,0.0076,1KG_AFR_AF,OTOF
432297,2:26747479:T>G,NM_194248.2:c.227+3221A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.758,\N,\N,OTOF
432298,2:26747507:G>A,NM_194248.2:c.227+3193C>T,\N,\N,3/46,Benign,\N,intron_variant,2.575,0.0547,1KG_EUR_AF,OTOF
432299,2:26747538:CT>C,NM_194248.2:c.227+3161del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432300,2:26747562:T>C,NM_194248.2:c.227+3138A>G,\N,\N,3/46,Benign,\N,intron_variant,0.931,0.3313,1KG_AFR_AF,OTOF
432301,2:26747573:C>T,NM_194248.2:c.227+3127G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.96,\N,\N,OTOF
432302,2:26747584:C>T,NM_194248.2:c.227+3116G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.504,\N,\N,OTOF
432303,2:26747631:G>A,NM_194248.2:c.227+3069C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,11.25,0.0008,1KG_AFR_AF,OTOF
432304,2:26747632:A>G,NM_194248.2:c.227+3068T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,8.931,0.0014,1KG_AMR_AF,OTOF
432305,2:26747649:C>G,NM_194248.2:c.227+3051G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,5.149,0.0008,1KG_AFR_AF,OTOF
432306,2:26747662:G>A,NM_194248.2:c.227+3038C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,10.79,0.0008,1KG_AFR_AF,OTOF
432307,2:26747663:C>G,NM_194248.2:c.227+3037G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,11.1,\N,\N,OTOF
432308,2:26747673:G>A,NM_194248.2:c.227+3027C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.14,0.0014,1KG_AMR_AF,OTOF
432309,2:26747684:T>C,NM_194248.2:c.227+3016A>G,\N,\N,3/46,Benign,\N,intron_variant,2.931,0.0061,1KG_AFR_AF,OTOF
432310,2:26747715:C>T,NM_194248.2:c.227+2985G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,11.42,0.003,1KG_AFR_AF,OTOF
432311,2:26747717:C>T,NM_194248.2:c.227+2983G>A,\N,\N,3/46,Benign,\N,intron_variant,10.05,0.0082,1KG_SAS_AF,OTOF
432312,2:26747718:C>T,NM_194248.2:c.227+2982G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,10.39,\N,\N,OTOF
432313,2:26747720:C>T,NM_194248.2:c.227+2980G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,10.57,0.001,1KG_EUR_AF,OTOF
432314,2:26747732:G>A,NM_194248.2:c.227+2968C>T,\N,\N,3/46,Benign,\N,intron_variant,2.122,0.5466,1KG_EAS_AF,OTOF
432315,2:26747733:G>A,NM_194248.2:c.227+2967C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.214,0.001,1KG_SAS_AF,OTOF
432316,2:26747749:CT>C,NM_194248.2:c.227+2950del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432317,2:26747809:C>T,NM_194248.2:c.227+2891G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.622,\N,\N,OTOF
432318,2:26747825:A>G,NM_194248.2:c.227+2875T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.902,\N,\N,OTOF
432319,2:26747831:G>A,NM_194248.2:c.227+2869C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.8,0.001,1KG_SAS_AF,OTOF
432320,2:26747887:C>T,NM_194248.2:c.227+2813G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,9.889,\N,\N,OTOF
432321,2:26747898:G>A,NM_194248.2:c.227+2802C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,9.921,\N,\N,OTOF
432322,2:26747918:C>T,NM_194248.2:c.227+2782G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.544,0.001,1KG_EUR_AF,OTOF
432323,2:26747922:G>A,NM_194248.2:c.227+2778C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.241,\N,\N,OTOF
432324,2:26747924:A>G,NM_194248.2:c.227+2776T>C,\N,\N,3/46,Benign,\N,intron_variant,2.844,0.1823,1KG_AFR_AF,OTOF
432325,2:26747957:T>C,NM_194248.2:c.227+2743A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.552,0.001,1KG_EAS_AF,OTOF
432326,2:26747972:G>A,NM_194248.2:c.227+2728C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.032,0.0008,1KG_AFR_AF,OTOF
432327,2:26748000:G>A,NM_194248.2:c.227+2700C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.104,\N,\N,OTOF
432328,2:26748010:G>A,NM_194248.2:c.227+2690C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.19,0.001,1KG_EUR_AF,OTOF
432329,2:26748027:G>A,NM_194248.2:c.227+2673C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,7.474,\N,\N,OTOF
432330,2:26748037:G>A,NM_194248.2:c.227+2663C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.761,\N,\N,OTOF
432331,2:26748053:G>A,NM_194248.2:c.227+2647C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.435,0.001,1KG_SAS_AF,OTOF
432332,2:26748081:G>A,NM_194248.2:c.227+2619C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.339,0.001,1KG_SAS_AF,OTOF
432333,2:26748098:T>C,NM_194248.2:c.227+2602A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.39,0.003,1KG_AFR_AF,OTOF
432334,2:26748107:C>T,NM_194248.2:c.227+2593G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.848,\N,\N,OTOF
432335,2:26748112:C>G,NM_194248.2:c.227+2588G>C,\N,\N,3/46,Benign,\N,intron_variant,0.411,0.0303,1KG_AFR_AF,OTOF
432336,2:26748118:C>T,NM_194248.2:c.227+2582G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.348,\N,\N,OTOF
432337,2:26748134:A>G,NM_194248.2:c.227+2566T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.491,\N,\N,OTOF
432338,2:26748172:G>A,NM_194248.2:c.227+2528C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.514,0.0008,1KG_AFR_AF,OTOF
432339,2:26748175:G>T,NM_194248.2:c.227+2525C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.989,\N,\N,OTOF
432340,2:26748182:T>C,NM_194248.2:c.227+2518A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.693,\N,\N,OTOF
432341,2:26748195:C>G,NM_194248.2:c.227+2505G>C,\N,\N,3/46,Benign,\N,intron_variant,3.582,0.0089,1KG_EUR_AF,OTOF
432342,2:26748218:A>C,NM_194248.2:c.227+2482T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.606,\N,\N,OTOF
432343,2:26748221:G>T,NM_194248.2:c.227+2479C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.196,\N,\N,OTOF
432344,2:26748247:C>A,NM_194248.2:c.227+2453G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.013,\N,\N,OTOF
432345,2:26748257:G>C,NM_194248.2:c.227+2443C>G,\N,\N,3/46,Benign,\N,intron_variant,1.277,0.005,1KG_EUR_AF,OTOF
432346,2:26748258:G>A,NM_194248.2:c.227+2442C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.79,0.001,1KG_EAS_AF,OTOF
432347,2:26748291:G>A,NM_194248.2:c.227+2409C>T,\N,\N,3/46,Benign,\N,intron_variant,1.475,0.0567,1KG_AFR_AF,OTOF
432348,2:26748298:A>G,NM_194248.2:c.227+2402T>C,\N,\N,3/46,Benign,\N,intron_variant,0.933,1,1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,OTOF
432349,2:26748303:C>T,NM_194248.2:c.227+2397G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.41,0.001,1KG_EUR_AF,OTOF
432350,2:26748306:T>A,NM_194248.2:c.227+2394A>T,\N,\N,3/46,Benign,\N,intron_variant,4.104,0.0106,1KG_AFR_AF,OTOF
432351,2:26748369:T>G,NM_194248.2:c.227+2331A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.873,\N,\N,OTOF
432352,2:26748402:G>C,NM_194248.2:c.227+2298C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.185,\N,\N,OTOF
432353,2:26748404:G>A,NM_194248.2:c.227+2296C>T,\N,\N,3/46,Benign,\N,intron_variant,1.645,0.0216,1KG_AMR_AF,OTOF
432354,2:26748406:G>T,NM_194248.2:c.227+2294C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.378,0.001,1KG_EAS_AF,OTOF
432355,2:26748411:G>A,NM_194248.2:c.227+2289C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.572,0.001,1KG_EAS_AF,OTOF
432356,2:26748417:G>C,NM_194248.2:c.227+2283C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,4.2,0.002,1KG_SAS_AF,OTOF
432357,2:26748438:C>G,NM_194248.2:c.227+2262G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,5.936,\N,\N,OTOF
432358,2:26748441:A>G,NM_194248.2:c.227+2259T>C,\N,\N,3/46,Benign,\N,intron_variant,7.879,0.1823,1KG_AFR_AF,OTOF
432359,2:26748475:C>A,NM_194248.2:c.227+2225G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.317,0.0014,1KG_AMR_AF,OTOF
432360,2:26748482:C>A,NM_194248.2:c.227+2218G>T,\N,\N,3/46,Benign,\N,intron_variant,2.919,0.0416,1KG_AFR_AF,OTOF
432361,2:26748488:T>C,NM_194248.2:c.227+2212A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.804,0.0038,1KG_AFR_AF,OTOF
432362,2:26748504:T>C,NM_194248.2:c.227+2196A>G,\N,\N,3/46,Benign,\N,intron_variant,1.807,0.7968,1KG_AMR_AF,OTOF
432363,2:26748529:A>AGATG,NM_194248.2:c.227+2167_227+2170dup,\N,\N,3/46,Benign,\N,intron_variant,0.109,0.0053,1KG_AFR_AF,OTOF
432364,2:26748544:T>C,NM_194248.2:c.227+2156A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.517,\N,\N,OTOF
432365,2:26748555:A>G,NM_194248.2:c.227+2145T>C,\N,\N,3/46,Benign,\N,intron_variant,2.39,0.0408,1KG_AFR_AF,OTOF
432366,2:26748575:A>G,NM_194248.2:c.227+2125T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.011,0.001,1KG_EAS_AF,OTOF
432367,2:26748618:A>C,NM_194248.2:c.227+2082T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.281,\N,\N,OTOF
432368,2:26748683:G>C,NM_194248.2:c.227+2017C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.333,\N,\N,OTOF
432369,2:26748683:G>T,NM_194248.2:c.227+2017C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.685,\N,\N,OTOF
432370,2:26748688:C>T,NM_194248.2:c.227+2012G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.033,0.002,1KG_SAS_AF,OTOF
432371,2:26748692:C>T,NM_194248.2:c.227+2008G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.531,\N,\N,OTOF
432372,2:26748693:G>A,NM_194248.2:c.227+2007C>T,\N,\N,3/46,Benign,\N,intron_variant,3.353,0.0076,1KG_AFR_AF,OTOF
432373,2:26748693:G>T,NM_194248.2:c.227+2007C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.908,\N,\N,OTOF
432374,2:26748711:T>C,NM_194248.2:c.227+1989A>G,\N,\N,3/46,Benign,\N,intron_variant,6.416,0.1823,1KG_AFR_AF,OTOF
432375,2:26748720:C>T,NM_194248.2:c.227+1980G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.011,\N,\N,OTOF
432376,2:26748752:C>T,NM_194248.2:c.227+1948G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.475,\N,\N,OTOF
432377,2:26748761:C>T,NM_194248.2:c.227+1939G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.941,0.001,1KG_SAS_AF,OTOF
432378,2:26748783:C>A,NM_194248.2:c.227+1917G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.424,0.001,1KG_SAS_AF,OTOF
432379,2:26748817:C>G,NM_194248.2:c.227+1883G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.555,\N,\N,OTOF
432380,2:26748817:C>T,NM_194248.2:c.227+1883G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.084,0.0023,1KG_AFR_AF,OTOF
432381,2:26748818:G>A,NM_194248.2:c.227+1882C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.88,0.001,1KG_EUR_AF,OTOF
432382,2:26748821:G>A,NM_194248.2:c.227+1879C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.825,0.0014,1KG_AMR_AF,OTOF
432383,2:26748825:A>T,NM_194248.2:c.227+1875T>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.048,\N,\N,OTOF
432384,2:26748856:G>A,NM_194248.2:c.227+1844C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.914,0.0031,1KG_SAS_AF,OTOF
432385,2:26748858:T>G,NM_194248.2:c.227+1842A>C,\N,\N,3/46,Benign,\N,intron_variant,1.773,0.0101,1KG_AMR_AF,OTOF
432386,2:26748865:T>G,NM_194248.2:c.227+1835A>C,\N,\N,3/46,Benign,\N,intron_variant,0.469,0.0101,1KG_AMR_AF,OTOF
432387,2:26748867:A>G,NM_194248.2:c.227+1833T>C,\N,\N,3/46,Benign,\N,intron_variant,1.397,0.0101,1KG_AMR_AF,OTOF
432388,2:26748877:C>T,NM_194248.2:c.227+1823G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.327,0.001,1KG_SAS_AF,OTOF
432389,2:26748881:A>AGAG,NM_194248.2:c.227+1816_227+1818dup,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432390,2:26748886:C>T,NM_194248.2:c.227+1814G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.129,\N,\N,OTOF
432391,2:26748887:G>A,NM_194248.2:c.227+1813C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.038,0.0008,1KG_AFR_AF,OTOF
432392,2:26748891:G>A,NM_194248.2:c.227+1809C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.057,0.001,1KG_SAS_AF,OTOF
432393,2:26748954:C>CAAAAAAAAAAAAAAAAAGGAA,NM_194248.2:c.227+1745_227+1746insTTCCTTTTTTTTTTTTTTTTT,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432394,2:26748954:CA>C,NM_194248.2:c.227+1745del,\N,\N,3/46,Unknown significance,\N,intron_variant,8.33,\N,\N,OTOF
432395,2:26748988:G>A,NM_194248.2:c.227+1712C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,7.229,\N,\N,OTOF
432396,2:26748989:G>A,NM_194248.2:c.227+1711C>T,\N,\N,3/46,Benign,\N,intron_variant,5.965,0.0234,1KG_AFR_AF,OTOF
432397,2:26748990:T>G,NM_194248.2:c.227+1710A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,7.337,\N,\N,OTOF
432398,2:26748993:AAGGAT>A,NM_194248.2:c.227+1702_227+1706del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432399,2:26748997:A>G,NM_194248.2:c.227+1703T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,5.795,\N,\N,OTOF
432400,2:26748998:T>A,NM_194248.2:c.227+1702A>T,\N,\N,3/46,Unknown significance,\N,intron_variant,8.022,\N,\N,OTOF
432401,2:26748998:T>TGGA,NM_194248.2:c.227+1699_227+1701dup,\N,\N,3/46,Benign,\N,intron_variant,5.33,0.865,1KG_SAS_AF,OTOF
432402,2:26748999:G>GGGA,NM_194248.2:c.227+1700_227+1701insTCC,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432403,2:26749034:T>C,NM_194248.2:c.227+1666A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,7.652,0.0045,1KG_AFR_AF,OTOF
432404,2:26749047:A>G,NM_194248.2:c.227+1653T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.662,0.0014,1KG_AMR_AF,OTOF
432405,2:26749105:G>A,NM_194248.2:c.227+1595C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.32,0.003,1KG_EAS_AF,OTOF
432406,2:26749125:A>AATGG,NM_194248.2:c.227+1571_227+1574dup,\N,\N,3/46,Benign,\N,intron_variant,0.323,0.0068,1KG_AFR_AF,OTOF
432407,2:26749159:T>C,NM_194248.2:c.227+1541A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.145,0.0015,1KG_AFR_AF,OTOF
432408,2:26749173:G>T,NM_194248.2:c.227+1527C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.15,0.001,1KG_SAS_AF,OTOF
432409,2:26749238:G>A,NM_194248.2:c.227+1462C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.119,0.0008,1KG_AFR_AF,OTOF
432410,2:26749240:T>C,NM_194248.2:c.227+1460A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.06,0.001,1KG_EUR_AF,OTOF
432411,2:26749298:G>C,NM_194248.2:c.227+1402C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.2,\N,\N,OTOF
432412,2:26749333:A>G,NM_194248.2:c.227+1367T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.861,0.0008,1KG_AFR_AF,OTOF
432413,2:26749337:G>A,NM_194248.2:c.227+1363C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.156,0.001,1KG_EAS_AF,OTOF
432414,2:26749347:C>T,NM_194248.2:c.227+1353G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.198,\N,\N,OTOF
432415,2:26749365:G>T,NM_194248.2:c.227+1335C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.69,\N,\N,OTOF
432416,2:26749401:G>A,NM_194248.2:c.227+1299C>T,\N,\N,3/46,Benign,\N,intron_variant,2.265,0.0079,1KG_EAS_AF,OTOF
432417,2:26749402:AAT>A,NM_194248.2:c.227+1296_227+1297del,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432418,2:26749429:AG>A,NM_194248.2:c.227+1270del,\N,\N,3/46,Unknown significance,\N,intron_variant,0.17,\N,\N,OTOF
432419,2:26749434:C>G,NM_194248.2:c.227+1266G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.304,0.002,1KG_SAS_AF,OTOF
432420,2:26749439:C>T,NM_194248.2:c.227+1261G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.936,0.0008,1KG_AFR_AF,OTOF
432421,2:26749449:T>C,NM_194248.2:c.227+1251A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.166,\N,\N,OTOF
432422,2:26749453:G>A,NM_194248.2:c.227+1247C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.667,0.0008,1KG_AFR_AF,OTOF
432423,2:26749462:A>G,NM_194248.2:c.227+1238T>C,\N,\N,3/46,Benign,\N,intron_variant,3.603,0.0076,1KG_AFR_AF,OTOF
432424,2:26749476:C>T,NM_194248.2:c.227+1224G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,6.515,\N,\N,OTOF
432425,2:26749477:C>A,NM_194248.2:c.227+1223G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.753,0.002,1KG_EUR_AF,OTOF
432426,2:26749477:C>T,NM_194248.2:c.227+1223G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,6.519,0.0031,1KG_SAS_AF,OTOF
432427,2:26749486:A>G,NM_194248.2:c.227+1214T>C,\N,\N,3/46,Benign,\N,intron_variant,2.889,0.0238,1KG_EAS_AF,OTOF
432428,2:26749491:G>C,NM_194248.2:c.227+1209C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.356,\N,\N,OTOF
432429,2:26749512:T>C,NM_194248.2:c.227+1188A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,0.902,0.001,1KG_SAS_AF,OTOF
432430,2:26749563:A>G,NM_194248.2:c.227+1137T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.569,0.0031,1KG_SAS_AF,OTOF
432431,2:26749597:G>A,NM_194248.2:c.227+1103C>T,\N,\N,3/46,Benign,\N,intron_variant,0.382,0.4374,1KG_EUR_AF,OTOF
432432,2:26749597:GG>AA,NM_194248.2:c.227+1102_227+1103delinsTT,\N,\N,3/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432433,2:26749598:G>A,NM_194248.2:c.227+1102C>T,\N,\N,3/46,Benign,\N,intron_variant,4.828,0.4374,1KG_EUR_AF,OTOF
432434,2:26749613:G>A,NM_194248.2:c.227+1087C>T,\N,\N,3/46,Benign,\N,intron_variant,0.925,0.0058,1KG_AMR_AF,OTOF
432435,2:26749620:G>C,NM_194248.2:c.227+1080C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.202,\N,\N,OTOF
432436,2:26749644:C>G,NM_194248.2:c.227+1056G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,5.511,\N,\N,OTOF
432437,2:26749681:G>T,NM_194248.2:c.227+1019C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.213,\N,\N,OTOF
432438,2:26749687:G>A,NM_194248.2:c.227+1013C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.247,0.001,1KG_EUR_AF,OTOF
432439,2:26749705:C>A,NM_194248.2:c.227+995G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.412,\N,\N,OTOF
432440,2:26749728:C>T,NM_194248.2:c.227+972G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.046,\N,\N,OTOF
432441,2:26749730:A>AT,NM_194248.2:c.227+969dup,\N,\N,3/46,Unknown significance,\N,intron_variant,0.818,\N,\N,OTOF
432442,2:26749739:T>G,NM_194248.2:c.227+961A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,0.031,\N,\N,OTOF
432443,2:26749768:A>C,NM_194248.2:c.227+932T>G,\N,\N,3/46,Benign,\N,intron_variant,1.632,0.0061,1KG_AFR_AF,OTOF
432444,2:26749801:C>T,NM_194248.2:c.227+899G>A,\N,\N,3/46,Benign,\N,intron_variant,6.012,0.0058,1KG_AMR_AF,OTOF
432445,2:26749821:G>A,NM_194248.2:c.227+879C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,3.959,\N,\N,OTOF
432446,2:26749833:A>C,NM_194248.2:c.227+867T>G,\N,\N,3/46,Benign,\N,intron_variant,1.348,0.0159,1KG_AFR_AF,OTOF
432447,2:26749847:C>T,NM_194248.2:c.227+853G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.074,0.001,1KG_SAS_AF,OTOF
432448,2:26749876:A>G,NM_194248.2:c.227+824T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.333,\N,\N,OTOF
432449,2:26749882:T>G,NM_194248.2:c.227+818A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.151,\N,\N,OTOF
432450,2:26749898:G>A,NM_194248.2:c.227+802C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.415,\N,\N,OTOF
432451,2:26749919:C>T,NM_194248.2:c.227+781G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,8.537,0.001,1KG_EUR_AF,OTOF
432452,2:26749935:G>A,NM_194248.2:c.227+765C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.83,0.0015,1KG_AFR_AF,OTOF
432453,2:26749964:A>G,NM_194248.2:c.227+736T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.538,\N,\N,OTOF
432454,2:26749979:C>T,NM_194248.2:c.227+721G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.505,0.004,1KG_EUR_AF,OTOF
432455,2:26749984:G>A,NM_194248.2:c.227+716C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.154,\N,\N,OTOF
432456,2:26750010:A>C,NM_194248.2:c.227+690T>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.03,0.0008,1KG_AFR_AF,OTOF
432457,2:26750022:A>G,NM_194248.2:c.227+678T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.63,0.001,1KG_SAS_AF,OTOF
432458,2:26750038:C>T,NM_194248.2:c.227+662G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,0.156,0.004,1KG_EAS_AF,OTOF
432459,2:26750040:C>T,NM_194248.2:c.227+660G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.221,\N,\N,OTOF
432460,2:26750056:A>T,NM_194248.2:c.227+644T>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.665,\N,\N,OTOF
432461,2:26750081:G>A,NM_194248.2:c.227+619C>T,\N,\N,3/46,Benign,\N,intron_variant,0.519,0.0072,1KG_SAS_AF,OTOF
432462,2:26750082:C>T,NM_194248.2:c.227+618G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,3.107,0.0015,1KG_AFR_AF,OTOF
432463,2:26750105:G>C,NM_194248.2:c.227+595C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,3.815,0.002,1KG_SAS_AF,OTOF
432464,2:26750106:T>C,NM_194248.2:c.227+594A>G,\N,\N,3/46,Benign,\N,intron_variant,6.596,0.0219,1KG_EUR_AF,OTOF
432465,2:26750113:A>G,NM_194248.2:c.227+587T>C,\N,\N,3/46,Benign,\N,intron_variant,3.097,0.007,1KG_EUR_AF,OTOF
432466,2:26750116:T>C,NM_194248.2:c.227+584A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.202,0.001,1KG_EUR_AF,OTOF
432467,2:26750120:T>C,NM_194248.2:c.227+580A>G,\N,\N,3/46,Benign,\N,intron_variant,3.728,0.005,1KG_EAS_AF,OTOF
432468,2:26750132:C>A,NM_194248.2:c.227+568G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,9.605,0.0038,1KG_AFR_AF,OTOF
432469,2:26750143:C>T,NM_194248.2:c.227+557G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,16.47,0.0008,1KG_AFR_AF,OTOF
432470,2:26750157:A>G,NM_194248.2:c.227+543T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,8.831,\N,\N,OTOF
432471,2:26750175:T>C,NM_194248.2:c.227+525A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,2.376,0.001,1KG_SAS_AF,OTOF
432472,2:26750188:A>G,NM_194248.2:c.227+512T>C,\N,\N,3/46,Unknown significance,\N,intron_variant,10.3,\N,\N,OTOF
432473,2:26750207:C>G,NM_194248.2:c.227+493G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,1.286,\N,\N,OTOF
432474,2:26750258:T>C,NM_194248.2:c.227+442A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,9.034,0.0015,1KG_AFR_AF,OTOF
432475,2:26750276:C>T,NM_194248.2:c.227+424G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.553,\N,\N,OTOF
432476,2:26750298:C>A,NM_194248.2:c.227+402G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.128,0.0014,1KG_AMR_AF,OTOF
432477,2:26750314:G>A,NM_194248.2:c.227+386C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.762,0.001,1KG_SAS_AF,OTOF
432478,2:26750330:A>T,NM_194248.2:c.227+370T>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.267,0.001,1KG_EAS_AF,OTOF
432479,2:26750338:C>T,NM_194248.2:c.227+362G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,4.752,0.0023,1KG_AFR_AF,OTOF
432480,2:26750351:C>T,NM_194248.2:c.227+349G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,1.065,0.001,1KG_EAS_AF,OTOF
432481,2:26750352:G>A,NM_194248.2:c.227+348C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.109,0.0014,1KG_AMR_AF,OTOF
432482,2:26750380:C>T,NM_194248.2:c.227+320G>A,\N,\N,3/46,Benign,\N,intron_variant,1.414,0.0401,1KG_AFR_AF,OTOF
432483,2:26750381:G>A,NM_194248.2:c.227+319C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.43,0.001,1KG_SAS_AF,OTOF
432484,2:26750388:T>A,NM_194248.2:c.227+312A>T,\N,\N,3/46,Benign,\N,intron_variant,4.533,0.0076,1KG_AFR_AF,OTOF
432485,2:26750410:G>A,NM_194248.2:c.227+290C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.961,0.0023,1KG_AFR_AF,OTOF
432486,2:26750415:T>C,NM_194248.2:c.227+285A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,5.81,\N,\N,OTOF
432487,2:26750420:C>G,NM_194248.2:c.227+280G>C,\N,\N,3/46,Benign,\N,intron_variant,10.52,0.6483,1KG_AFR_AF,OTOF
432488,2:26750435:G>T,NM_194248.2:c.227+265C>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.307,0.002,1KG_SAS_AF,OTOF
432489,2:26750445:C>T,NM_194248.2:c.227+255G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,2.23,0.0008,1KG_AFR_AF,OTOF
432490,2:26750460:G>A,NM_194248.2:c.227+240C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,4.539,0.0015,1KG_AFR_AF,OTOF
432491,2:26750463:G>A,NM_194248.2:c.227+237C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,1.389,\N,\N,OTOF
432492,2:26750471:G>C,NM_194248.2:c.227+229C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.219,\N,\N,OTOF
432493,2:26750557:T>C,NM_194248.2:c.227+143A>G,\N,\N,3/46,Benign,\N,intron_variant,4.121,1,1KG_EAS_AF|1KG_SAS_AF,OTOF
432494,2:26750577:C>A,NM_194248.2:c.227+123G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.268,\N,\N,OTOF
432495,2:26750611:T>G,NM_194248.2:c.227+89A>C,\N,\N,3/46,Unknown significance,\N,intron_variant,3.845,\N,\N,OTOF
432496,2:26750645:G>A,NM_194248.2:c.227+55C>T,\N,\N,3/46,Benign,\N,intron_variant,3.275,0.749277,EVS_AA_AF,OTOF
432497,2:26750650:G>C,NM_194248.2:c.227+50C>G,\N,\N,3/46,Unknown significance,\N,intron_variant,4.095,0.0000961908,EXAC_AFR_AF,OTOF
432498,2:26750654:C>A,NM_194248.2:c.227+46G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,7.115,0.000121153,EXAC_SAS_AF,OTOF
432499,2:26750654:C>T,NM_194248.2:c.227+46G>A,\N,\N,3/46,Unknown significance,\N,intron_variant,7.288,0.00348837,EVS_EA_AF,OTOF
432500,2:26750658:G>A,NM_194248.2:c.227+42C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,6.067,0.00220751,EXAC_OTH_AF,OTOF
432501,2:26750662:G>A,NM_194248.2:c.227+38C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,0.837,0.00248395,EXAC_SAS_AF,OTOF
432502,2:26750663:T>C,NM_194248.2:c.227+37A>G,\N,\N,3/46,Unknown significance,\N,intron_variant,1.921,0.000116279,EVS_EA_AF,OTOF
432503,2:26750667:G>A,NM_194248.2:c.227+33C>T,\N,\N,3/46,Unknown significance,\N,intron_variant,2.927,0.000116279,EVS_EA_AF,OTOF
432504,2:26750671:C>A,NM_194248.2:c.227+29G>T,\N,\N,3/46,Unknown significance,\N,intron_variant,5.879,0.0000149849,EXAC_NFE_AF,OTOF
432505,2:26750684:C>G,NM_194248.2:c.227+16G>C,\N,\N,3/46,Unknown significance,\N,intron_variant,2.107,0.0000149844,EXAC_NFE_AF,OTOF
432506,2:26750688:T>C,NM_194248.2:c.227+12A>G,\N,\N,3/46,Likely benign,\N,intron_variant,2.143,0.0000449519,EXAC_NFE_AF,OTOF
432507,2:26750694:A>G,NM_194248.2:c.227+6T>C,\N,\N,3/46,Unknown significance,\N,splice_region_variant&intron_variant,7.955,0.000014984,EXAC_NFE_AF,OTOF
432508,2:26750695:C>T,NM_194248.2:c.227+5G>A,\N,\N,3/46,Unknown significance,\N,splice_region_variant&intron_variant,14.57,0.000014984,EXAC_NFE_AF,OTOF
432509,2:26750699:C>T,NM_194248.2:c.227+1G>A,\N,\N,3/46,Unknown significance,\N,splice_donor_variant,26,0.000115554,EXAC_EAS_AF,OTOF
432510,2:26750700:T>C,NM_194248.2:c.227A>G,NP_919224.1:p.Lys76Arg,3/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,9.551,0.000115554,EXAC_EAS_AF,OTOF
432511,2:26750701:T>A,NM_194248.2:c.226A>T,NP_919224.1:p.Lys76Ter,3/47,\N,Unknown significance,\N,stop_gained&splice_region_variant,37,0.000014984,EXAC_NFE_AF,OTOF
432512,2:26750703:T>C,NM_194248.2:c.224A>G,NP_919224.1:p.Asn75Ser,3/47,\N,Unknown significance,\N,missense_variant,24.9,0.00030248,EXAC_FIN_AF,OTOF
432513,2:26750704:T>C,NM_194248.2:c.223A>G,NP_919224.1:p.Asn75Asp,3/47,\N,Unknown significance,\N,missense_variant,24.5,0.000014984,EXAC_NFE_AF,OTOF
432514,2:26750705:G>C,NM_194248.2:c.222C>G,NP_919224.1:p.Ser74Arg,3/47,\N,Unknown significance,\N,missense_variant,26.2,0.000604595,EXAC_AMR_AF,OTOF
432515,2:26750735:AATCTCCAGC>A,NM_194248.2:c.183_191del,NP_919224.1:p.Met61_Glu63del,3/47,\N,Unknown significance,\N,inframe_deletion,21.4,\N,\N,OTOF
432516,2:26750740:C>T,NM_194248.2:c.187G>A,NP_919224.1:p.Glu63Lys,3/47,\N,Unknown significance,\N,missense_variant,27,0.000060562,EXAC_SAS_AF,OTOF
432517,2:26750742:A>G,NM_194248.2:c.185T>C,NP_919224.1:p.Leu62Pro,3/47,\N,Unknown significance,\N,missense_variant,27.4,0.000242248,EXAC_SAS_AF,OTOF
432518,2:26750746:T>A,NM_194248.2:c.181A>T,NP_919224.1:p.Met61Leu,3/47,\N,Likely benign,\N,missense_variant,12.06,0.000060562,EXAC_SAS_AF,OTOF
432519,2:26750746:T>C,NM_194248.2:c.181A>G,NP_919224.1:p.Met61Val,3/47,\N,Likely benign,\N,missense_variant,0.184,0.000115554,EXAC_EAS_AF,OTOF
432520,2:26750748:T>C,NM_194248.2:c.179A>G,NP_919224.1:p.Glu60Gly,3/47,\N,Unknown significance,\N,missense_variant,27.6,0.000115554,EXAC_EAS_AF,OTOF
432521,2:26750753:T>C,NM_194248.2:c.174A>G,NP_919224.1:p.Arg58=,3/47,\N,Unknown significance,\N,synonymous_variant,3.899,\N,\N,OTOF
432522,2:26750754:C>T,NM_194248.2:c.173G>A,NP_919224.1:p.Arg58Lys,3/47,\N,Benign,\N,missense_variant,8.747,0.005,OTO_TR_AF,OTOF
432523,2:26750755:T>C,NM_194248.2:c.172A>G,NP_919224.1:p.Arg58Gly,3/47,\N,Likely benign,\N,missense_variant,14.81,0.0000299706,EXAC_NFE_AF,OTOF
432524,2:26750758:C>T,NM_194248.2:c.169G>A,NP_919224.1:p.Asp57Asn,3/47,\N,Unknown significance,\N,missense_variant,32,0.00146856,EXAC_AMR_AF,OTOF
432525,2:26750759:G>A,NM_194248.2:c.168C>T,NP_919224.1:p.Ile56=,3/47,\N,Unknown significance,\N,synonymous_variant,13.38,0.0014,1KG_AMR_AF,OTOF
432526,2:26750763:C>T,NM_194248.2:c.164G>A,NP_919224.1:p.Ser55Asn,3/47,\N,Likely benign,\N,missense_variant,11.95,\N,\N,OTOF
432527,2:26750764:T>G,NM_194248.2:c.163A>C,NP_919224.1:p.Ser55Arg,3/47,\N,Unknown significance,\N,missense_variant,15.1,0.0000863856,EXAC_AMR_AF,OTOF
432528,2:26750767:T>TGGCCACC,NM_194248.2:c.153_159dup,NP_919224.1:p.Ser54GlyfsTer9,3/47,\N,Unknown significance,\N,frameshift_variant,34,0.0000961354,EXAC_AFR_AF,OTOF
432529,2:26750769:G>A,NM_194248.2:c.158C>T,NP_919224.1:p.Ala53Val,3/47,\N,Benign,\N,missense_variant,23.1,0.625,OTO_JP_AF,OTOF
432530,2:26750770:C>T,NM_194248.2:c.157G>A,NP_919224.1:p.Ala53Thr,3/47,\N,Benign,\N,missense_variant,23.3,0.0149,1KG_EAS_AF,OTOF
432531,2:26750770:C>A,NM_194248.2:c.157G>T,NP_919224.1:p.Ala53Ser,3/47,\N,Unknown significance,\N,missense_variant,21.8,0.0000864304,EXAC_AMR_AF,OTOF
432532,2:26750771:C>T,NM_194248.2:c.156G>A,NP_919224.1:p.Val52=,3/47,\N,Unknown significance,\N,synonymous_variant,13.86,0.0008,1KG_AFR_AF,OTOF
432533,2:26750773:C>T,NM_001287489.1:c.154G>A,NP_001274418.1:p.Val52Met,3/46,\N,Benign,\N,missense_variant,24.7,0.0111111,OTO_ES_AF,OTOF
432534,2:26750774:C>T,NM_194248.2:c.153G>A,NP_919224.1:p.Pro51=,3/47,\N,Unknown significance,\N,synonymous_variant,12.58,0.000231107,EXAC_EAS_AF,OTOF
432535,2:26750775:G>A,NM_001287489.1:c.152C>T,NP_001274418.1:p.Pro51Leu,3/46,\N,Unknown significance,\N,missense_variant,27.6,0.00116279,EVS_EA_AF,OTOF
432536,2:26750778:C>T,NM_194248.2:c.149G>A,NP_919224.1:p.Trp50Ter,3/47,\N,Unknown significance,\N,stop_gained,39,0.000151332,EXAC_FIN_AF,OTOF
432537,2:26750781:C>T,NM_194248.2:c.146G>A,NP_919224.1:p.Arg49Gln,3/47,\N,Unknown significance,\N,missense_variant,26.8,0.000060562,EXAC_SAS_AF,OTOF
432538,2:26750782:G>A,NM_194248.2:c.145C>T,NP_919224.1:p.Arg49Trp,3/47,\N,Benign,\N,missense_variant,34,0.040625,OTO_CO_AF,OTOF
432539,2:26750795:A>G,NM_194248.2:c.139-7T>C,\N,\N,2/46,Unknown significance,\N,splice_region_variant&intron_variant,5.64,0.0000150011,EXAC_NFE_AF,OTOF
432540,2:26750798:G>A,NM_194248.2:c.139-10C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.977,0.000115714,EXAC_EAS_AF,OTOF
432541,2:26750810:C>A,NM_194248.2:c.139-22G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.457,0.0000301033,EXAC_NFE_AF,OTOF
432542,2:26750810:C>T,NM_194248.2:c.139-22G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.605,0.000120413,EXAC_NFE_AF,OTOF
432543,2:26750811:G>A,NM_194248.2:c.139-23C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.914,0.000303582,EXAC_FIN_AF,OTOF
432544,2:26750811:G>T,NM_194248.2:c.139-23C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.466,0.002,1KG_SAS_AF,OTOF
432545,2:26750816:C>T,NM_194248.2:c.139-28G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.64,0.00110619,EXAC_OTH_AF,OTOF
432546,2:26750817:G>A,NM_194248.2:c.139-29C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.482,0.000226963,EVS_AA_AF,OTOF
432547,2:26750818:G>C,NM_194248.2:c.139-30C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.627,0.0000607977,EXAC_SAS_AF,OTOF
432548,2:26750824:A>G,NM_194248.2:c.139-36T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.936,0.0000150984,EXAC_NFE_AF,OTOF
432549,2:26750826:A>G,NM_194248.2:c.139-38T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.833,0.0000608495,EXAC_SAS_AF,OTOF
432550,2:26750831:G>A,NM_194248.2:c.139-43C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.994,0.000116279,EVS_EA_AF,OTOF
432551,2:26750834:G>A,NM_194248.2:c.139-46C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.41,0.00112108,EXAC_OTH_AF,OTOF
432552,2:26750834:G>C,NM_194248.2:c.139-46C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.789,0.000200441,EXAC_AFR_AF,OTOF
432553,2:26750839:C>T,NM_194248.2:c.139-51G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.32,0.000348837,EVS_EA_AF,OTOF
432554,2:26750840:G>A,NM_194248.2:c.139-52C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.128,0.0000308947,EXAC_NFE_AF,OTOF
432555,2:26750848:T>C,NM_194248.2:c.139-60A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.651,0.001,1KG_SAS_AF,OTOF
432556,2:26750859:T>A,NM_194248.2:c.139-71A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,6.541,\N,\N,OTOF
432557,2:26750860:C>A,NM_194248.2:c.139-72G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.75,\N,\N,OTOF
432558,2:26750869:G>A,NM_194248.2:c.139-81C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.945,\N,\N,OTOF
432559,2:26750888:T>C,NM_194248.2:c.139-100A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.417,0.001,1KG_EAS_AF,OTOF
432560,2:26750898:C>T,NM_194248.2:c.139-110G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.769,0.001,1KG_EAS_AF,OTOF
432561,2:26750904:C>G,NM_194248.2:c.139-116G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,6.95,\N,\N,OTOF
432562,2:26750910:G>T,NM_194248.2:c.139-122C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.626,\N,\N,OTOF
432563,2:26750911:C>T,NM_194248.2:c.139-123G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,13.46,\N,\N,OTOF
432564,2:26750930:T>C,NM_194248.2:c.139-142A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,7.631,0.0023,1KG_AFR_AF,OTOF
432565,2:26750936:C>T,NM_194248.2:c.139-148G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,8.877,\N,\N,OTOF
432566,2:26750961:C>T,NM_194248.2:c.139-173G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.18,\N,\N,OTOF
432567,2:26750962:C>T,NM_194248.2:c.139-174G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.386,0.001,1KG_EAS_AF,OTOF
432568,2:26750975:C>T,NM_194248.2:c.139-187G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.87,0.002,1KG_SAS_AF,OTOF
432569,2:26750976:G>A,NM_194248.2:c.139-188C>T,\N,\N,2/46,Benign,\N,intron_variant,0.921,0.0757,1KG_SAS_AF,OTOF
432570,2:26751038:G>T,NM_194248.2:c.139-250C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.202,\N,\N,OTOF
432571,2:26751064:C>T,NM_194248.2:c.139-276G>A,\N,\N,2/46,Benign,\N,intron_variant,3.588,0.0393,1KG_AFR_AF,OTOF
432572,2:26751077:T>C,NM_194248.2:c.139-289A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.73,0.0008,1KG_AFR_AF,OTOF
432573,2:26751094:G>A,NM_194248.2:c.139-306C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.268,\N,\N,OTOF
432574,2:26751113:A>G,NM_194248.2:c.139-325T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.849,\N,\N,OTOF
432575,2:26751121:AG>A,NM_194248.2:c.139-334del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,0.0015,1KG_AFR_AF,OTOF
432576,2:26751171:GAGACAGCA>G,NM_194248.2:c.139-391_139-384del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,0.0029,1KG_AMR_AF,OTOF
432577,2:26751175:C>A,NM_194248.2:c.139-387G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.204,\N,\N,OTOF
432578,2:26751211:G>C,NM_194248.2:c.139-423C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.215,\N,\N,OTOF
432579,2:26751250:C>G,NM_194248.2:c.139-462G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.069,\N,\N,OTOF
432580,2:26751276:C>G,NM_194248.2:c.139-488G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.849,0.002,1KG_EUR_AF,OTOF
432581,2:26751308:C>A,NM_194248.2:c.139-520G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.474,0.0014,1KG_AMR_AF,OTOF
432582,2:26751369:C>T,NM_194248.2:c.139-581G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,7.159,0.0008,1KG_AFR_AF,OTOF
432583,2:26751394:A>G,NM_194248.2:c.139-606T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.628,0.001,1KG_EUR_AF,OTOF
432584,2:26751411:C>A,NM_194248.2:c.139-623G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.117,0.001,1KG_EUR_AF,OTOF
432585,2:26751418:A>C,NM_194248.2:c.139-630T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.728,\N,\N,OTOF
432586,2:26751425:C>T,NM_194248.2:c.139-637G>A,\N,\N,2/46,Benign,\N,intron_variant,2.267,0.3548,1KG_AFR_AF,OTOF
432587,2:26751448:G>A,NM_194248.2:c.139-660C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.714,\N,\N,OTOF
432588,2:26751485:G>C,NM_194248.2:c.139-697C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.575,0.001,1KG_SAS_AF,OTOF
432589,2:26751547:T>C,NM_194248.2:c.139-759A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.847,\N,\N,OTOF
432590,2:26751548:G>A,NM_194248.2:c.139-760C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.112,\N,\N,OTOF
432591,2:26751589:G>T,NM_194248.2:c.139-801C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.919,\N,\N,OTOF
432592,2:26751591:T>C,NM_194248.2:c.139-803A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.291,\N,\N,OTOF
432593,2:26751610:C>T,NM_194248.2:c.139-822G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.4,0.001,1KG_SAS_AF,OTOF
432594,2:26751632:C>G,NM_194248.2:c.139-844G>C,\N,\N,2/46,Benign,\N,intron_variant,1.375,0.0076,1KG_AFR_AF,OTOF
432595,2:26751639:G>C,NM_194248.2:c.139-851C>G,\N,\N,2/46,Benign,\N,intron_variant,0.625,0.3555,1KG_AFR_AF,OTOF
432596,2:26751640:G>C,NM_194248.2:c.139-852C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.44,\N,\N,OTOF
432597,2:26751645:G>A,NM_194248.2:c.139-857C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.774,0.0014,1KG_AMR_AF,OTOF
432598,2:26751690:G>C,NM_194248.2:c.139-902C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.564,\N,\N,OTOF
432599,2:26751692:C>T,NM_194248.2:c.139-904G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.553,0.001,1KG_SAS_AF,OTOF
432600,2:26751693:G>A,NM_194248.2:c.139-905C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.8,0.001,1KG_EAS_AF,OTOF
432601,2:26751713:C>G,NM_194248.2:c.139-925G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.267,\N,\N,OTOF
432602,2:26751729:A>G,NM_194248.2:c.139-941T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.151,0.0008,1KG_AFR_AF,OTOF
432603,2:26751732:G>A,NM_194248.2:c.139-944C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.009,0.001,1KG_SAS_AF,OTOF
432604,2:26751739:G>A,NM_194248.2:c.139-951C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.513,0.0008,1KG_AFR_AF,OTOF
432605,2:26751743:C>T,NM_194248.2:c.139-955G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.492,\N,\N,OTOF
432606,2:26751772:T>A,NM_194248.2:c.139-984A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,9.764,\N,\N,OTOF
432607,2:26751782:C>T,NM_194248.2:c.139-994G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,13.09,0.001,1KG_EAS_AF,OTOF
432608,2:26751865:G>A,NM_194248.2:c.139-1077C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.767,\N,\N,OTOF
432609,2:26751894:G>C,NM_194248.2:c.139-1106C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.548,0.001,1KG_SAS_AF,OTOF
432610,2:26751916:G>C,NM_194248.2:c.139-1128C>G,\N,\N,2/46,Benign,\N,intron_variant,0.373,0.3442,1KG_AFR_AF,OTOF
432611,2:26751976:C>G,NM_194248.2:c.139-1188G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.688,0.002,1KG_SAS_AF,OTOF
432612,2:26751985:A>T,NM_194248.2:c.139-1197T>A,\N,\N,2/46,Benign,\N,intron_variant,0.612,0.0408,1KG_AFR_AF,OTOF
432613,2:26751989:T>C,NM_194248.2:c.139-1201A>G,\N,\N,2/46,Benign,\N,intron_variant,1.28,0.0051,1KG_SAS_AF,OTOF
432614,2:26751992:G>A,NM_194248.2:c.139-1204C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.536,\N,\N,OTOF
432615,2:26752001:A>T,NM_194248.2:c.139-1213T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.055,0.001,1KG_SAS_AF,OTOF
432616,2:26752013:G>A,NM_194248.2:c.139-1225C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.511,\N,\N,OTOF
432617,2:26752022:G>A,NM_194248.2:c.139-1234C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.457,0.001,1KG_EAS_AF,OTOF
432618,2:26752039:A>C,NM_194248.2:c.139-1251T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.568,0.003,1KG_EAS_AF,OTOF
432619,2:26752068:G>A,NM_194248.2:c.139-1280C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.192,0.0043,1KG_AMR_AF,OTOF
432620,2:26752097:C>T,NM_194248.2:c.139-1309G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.622,0.0008,1KG_AFR_AF,OTOF
432621,2:26752098:G>A,NM_194248.2:c.139-1310C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.598,\N,\N,OTOF
432622,2:26752109:ACC>A,NM_194248.2:c.139-1323_139-1322del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432623,2:26752110:C>T,NM_194248.2:c.139-1322G>A,\N,\N,2/46,Benign,\N,intron_variant,1.634,0.0089,1KG_EUR_AF,OTOF
432624,2:26752111:C>T,NM_194248.2:c.139-1323G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.992,0.0014,1KG_AMR_AF,OTOF
432625,2:26752112:G>A,NM_194248.2:c.139-1324C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.247,0.001,1KG_SAS_AF,OTOF
432626,2:26752146:G>T,NM_194248.2:c.139-1358C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.832,0.0014,1KG_AMR_AF,OTOF
432627,2:26752165:T>C,NM_194248.2:c.139-1377A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.739,0.0038,1KG_AFR_AF,OTOF
432628,2:26752218:A>G,NM_194248.2:c.139-1430T>C,\N,\N,2/46,Benign,\N,intron_variant,3.894,0.0069,1KG_EAS_AF,OTOF
432629,2:26752236:C>T,NM_194248.2:c.139-1448G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.691,0.0014,1KG_AMR_AF,OTOF
432630,2:26752269:G>A,NM_194248.2:c.139-1481C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.113,0.001,1KG_SAS_AF,OTOF
432631,2:26752273:T>A,NM_194248.2:c.139-1485A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.87,0.001,1KG_SAS_AF,OTOF
432632,2:26752286:C>A,NM_194248.2:c.139-1498G>T,\N,\N,2/46,Benign,\N,intron_variant,1.642,0.0061,1KG_SAS_AF,OTOF
432633,2:26752287:G>A,NM_194248.2:c.139-1499C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.251,\N,\N,OTOF
432634,2:26752300:C>T,NM_194248.2:c.139-1512G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.042,0.0014,1KG_AMR_AF,OTOF
432635,2:26752315:A>G,NM_194248.2:c.139-1527T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.124,\N,\N,OTOF
432636,2:26752320:C>T,NM_194248.2:c.139-1532G>A,\N,\N,2/46,Benign,\N,intron_variant,2.075,0.0053,1KG_AFR_AF,OTOF
432637,2:26752362:C>A,NM_194248.2:c.139-1574G>T,\N,\N,2/46,Benign,\N,intron_variant,2.966,0.0348,1KG_EUR_AF,OTOF
432638,2:26752377:G>A,NM_194248.2:c.139-1589C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.385,0.001,1KG_SAS_AF,OTOF
432639,2:26752407:C>T,NM_194248.2:c.139-1619G>A,\N,\N,2/46,Benign,\N,intron_variant,11.31,0.0061,1KG_AFR_AF,OTOF
432640,2:26752413:AGGCCCTC>A,NM_194248.2:c.139-1632_139-1626del,\N,\N,2/46,Unknown significance,\N,intron_variant,8.417,0.0038,1KG_AFR_AF,OTOF
432641,2:26752420:C>T,NM_194248.2:c.139-1632G>A,\N,\N,2/46,Benign,\N,intron_variant,0.806,0.0605,1KG_AFR_AF,OTOF
432642,2:26752431:T>C,NM_194248.2:c.139-1643A>G,\N,\N,2/46,Benign,\N,intron_variant,5.547,0.0461,1KG_AFR_AF,OTOF
432643,2:26752452:G>A,NM_194248.2:c.139-1664C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.998,\N,\N,OTOF
432644,2:26752454:T>C,NM_194248.2:c.139-1666A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.595,0.0008,1KG_AFR_AF,OTOF
432645,2:26752474:A>T,NM_194248.2:c.139-1686T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.319,0.0008,1KG_AFR_AF,OTOF
432646,2:26752523:G>C,NM_194248.2:c.139-1735C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,4.505,\N,\N,OTOF
432647,2:26752528:G>A,NM_194248.2:c.139-1740C>T,\N,\N,2/46,Benign,\N,intron_variant,2.658,0.0787,1KG_AFR_AF,OTOF
432648,2:26752632:A>G,NM_194248.2:c.139-1844T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,5.2,0.0023,1KG_AFR_AF,OTOF
432649,2:26752657:G>C,NM_194248.2:c.139-1869C>G,\N,\N,2/46,Benign,\N,intron_variant,0.942,0.0076,1KG_AFR_AF,OTOF
432650,2:26752664:C>T,NM_194248.2:c.139-1876G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.669,\N,\N,OTOF
432651,2:26752665:G>A,NM_194248.2:c.139-1877C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.101,0.0038,1KG_AFR_AF,OTOF
432652,2:26752672:G>A,NM_194248.2:c.139-1884C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.79,0.002,1KG_EAS_AF,OTOF
432653,2:26752720:T>C,NM_194248.2:c.139-1932A>G,\N,\N,2/46,Benign,\N,intron_variant,0.427,0.1301,1KG_AFR_AF,OTOF
432654,2:26752732:G>A,NM_194248.2:c.139-1944C>T,\N,\N,2/46,Benign,\N,intron_variant,1.44,0.8351,1KG_AFR_AF,OTOF
432655,2:26752764:G>GGCAGCCCGGCCCACAGGCCTCATTCAGCGGCT,NM_194248.2:c.139-2008_139-1977dup,\N,\N,2/46,Benign,\N,intron_variant,1.278,0.513,1KG_AMR_AF,OTOF
432656,2:26752767:A>AAGCCCGGCCCACAGGCCTCATTCAGCGGCTGC,NM_194248.2:c.139-1980_139-1979insGCAGCCGCTGAATGAGGCCTGTGGGCCGGGCT,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432657,2:26752771:C>T,NM_194248.2:c.139-1983G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,7.613,0.004,1KG_EAS_AF,OTOF
432658,2:26752799:G>A,NM_194248.2:c.139-2011C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.167,\N,\N,OTOF
432659,2:26752836:G>A,NM_194248.2:c.139-2048C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,13.34,0.001,1KG_SAS_AF,OTOF
432660,2:26752874:G>A,NM_194248.2:c.139-2086C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,6.519,0.001,1KG_EAS_AF,OTOF
432661,2:26752879:G>A,NM_194248.2:c.139-2091C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,10.72,\N,\N,OTOF
432662,2:26752882:A>G,NM_194248.2:c.139-2094T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,8.672,0.001,1KG_SAS_AF,OTOF
432663,2:26752883:T>C,NM_194248.2:c.139-2095A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,9.006,0.0014,1KG_AMR_AF,OTOF
432664,2:26752893:C>T,NM_194248.2:c.139-2105G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.791,0.001,1KG_SAS_AF,OTOF
432665,2:26752918:G>A,NM_194248.2:c.139-2130C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.625,0.001,1KG_EUR_AF,OTOF
432666,2:26752934:C>T,NM_194248.2:c.139-2146G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.936,\N,\N,OTOF
432667,2:26752943:G>A,NM_194248.2:c.139-2155C>T,\N,\N,2/46,Benign,\N,intron_variant,3.364,0.005,1KG_EAS_AF,OTOF
432668,2:26752950:C>A,NM_194248.2:c.139-2162G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.64,0.001,1KG_EAS_AF,OTOF
432669,2:26752954:C>G,NM_194248.2:c.139-2166G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.965,\N,\N,OTOF
432670,2:26752954:C>T,NM_194248.2:c.139-2166G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.713,\N,\N,OTOF
432671,2:26752961:T>C,NM_194248.2:c.139-2173A>G,\N,\N,2/46,Benign,\N,intron_variant,1.514,0.7302,1KG_EAS_AF,OTOF
432672,2:26752970:G>A,NM_194248.2:c.139-2182C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.607,0.001,1KG_SAS_AF,OTOF
432673,2:26752997:T>C,NM_194248.2:c.139-2209A>G,\N,\N,2/46,Benign,\N,intron_variant,0.137,0.0635,1KG_AFR_AF,OTOF
432674,2:26753003:T>C,NM_194248.2:c.139-2215A>G,\N,\N,2/46,Benign,\N,intron_variant,4.171,0.0068,1KG_AFR_AF,OTOF
432675,2:26753046:A>G,NM_194248.2:c.139-2258T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,6.175,0.001,1KG_EUR_AF,OTOF
432676,2:26753102:T>C,NM_194248.2:c.139-2314A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,4.013,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
432677,2:26753107:C>T,NM_194248.2:c.139-2319G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.838,\N,\N,OTOF
432678,2:26753113:C>T,NM_194248.2:c.139-2325G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.248,0.0038,1KG_AFR_AF,OTOF
432679,2:26753135:C>G,NM_194248.2:c.139-2347G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.63,\N,\N,OTOF
432680,2:26753160:G>A,NM_194248.2:c.139-2372C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.145,0.001,1KG_EAS_AF,OTOF
432681,2:26753164:C>T,NM_194248.2:c.139-2376G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.385,0.001,1KG_EAS_AF,OTOF
432682,2:26753167:G>A,NM_194248.2:c.139-2379C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.32,\N,\N,OTOF
432683,2:26753184:G>A,NM_194248.2:c.139-2396C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.867,0.001,1KG_EAS_AF,OTOF
432684,2:26753195:G>T,NM_194248.2:c.139-2407C>A,\N,\N,2/46,Benign,\N,intron_variant,0.917,0.0227,1KG_AFR_AF,OTOF
432685,2:26753195:GA>TT,NM_194248.2:c.139-2408_139-2407delinsAA,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432686,2:26753196:A>T,NM_194248.2:c.139-2408T>A,\N,\N,2/46,Benign,\N,intron_variant,1.458,0.0227,1KG_AFR_AF,OTOF
432687,2:26753198:A>C,NM_194248.2:c.139-2410T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.425,\N,\N,OTOF
432688,2:26753203:G>A,NM_194248.2:c.139-2415C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,9.403,0.0045,1KG_AFR_AF,OTOF
432689,2:26753214:A>G,NM_194248.2:c.139-2426T>C,\N,\N,2/46,Benign,\N,intron_variant,1.261,0.2837,1KG_AFR_AF,OTOF
432690,2:26753219:G>A,NM_194248.2:c.139-2431C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.866,0.0008,1KG_AFR_AF,OTOF
432691,2:26753226:C>T,NM_194248.2:c.139-2438G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.221,\N,\N,OTOF
432692,2:26753230:G>GA,NM_194248.2:c.139-2443_139-2442insT,\N,\N,2/46,Benign,\N,intron_variant,0.467,0.0545,1KG_AFR_AF,OTOF
432693,2:26753232:C>G,NM_194248.2:c.139-2444G>C,\N,\N,2/46,Benign,\N,intron_variant,1.204,0.0272,1KG_AFR_AF,OTOF
432694,2:26753235:T>C,NM_194248.2:c.139-2447A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.072,0.001,1KG_EAS_AF,OTOF
432695,2:26753254:T>A,NM_194248.2:c.139-2466A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.287,0.0014,1KG_AMR_AF,OTOF
432696,2:26753265:G>A,NM_194248.2:c.139-2477C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.408,0.0029,1KG_AMR_AF,OTOF
432697,2:26753287:T>C,NM_194248.2:c.139-2499A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.269,0.0014,1KG_AMR_AF,OTOF
432698,2:26753304:G>A,NM_194248.2:c.139-2516C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.234,0.001,1KG_SAS_AF,OTOF
432699,2:26753311:G>A,NM_194248.2:c.139-2523C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.541,\N,\N,OTOF
432700,2:26753339:C>T,NM_194248.2:c.139-2551G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.794,\N,\N,OTOF
432701,2:26753340:G>A,NM_194248.2:c.139-2552C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.188,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
432702,2:26753366:C>T,NM_194248.2:c.139-2578G>A,\N,\N,2/46,Benign,\N,intron_variant,0.046,0.0113,1KG_AFR_AF,OTOF
432703,2:26753367:G>A,NM_194248.2:c.139-2579C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.863,\N,\N,OTOF
432704,2:26753413:C>G,NM_194248.2:c.139-2625G>C,\N,\N,2/46,Benign,\N,intron_variant,1.387,0.0136,1KG_AFR_AF,OTOF
432705,2:26753414:G>A,NM_194248.2:c.139-2626C>T,\N,\N,2/46,Benign,\N,intron_variant,0.109,0.0363,1KG_AFR_AF,OTOF
432706,2:26753426:G>A,NM_194248.2:c.139-2638C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.05,\N,\N,OTOF
432707,2:26753426:G>C,NM_194248.2:c.139-2638C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.156,\N,\N,OTOF
432708,2:26753433:C>T,NM_194248.2:c.139-2645G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.909,0.001,1KG_EAS_AF,OTOF
432709,2:26753441:T>A,NM_194248.2:c.139-2653A>T,\N,\N,2/46,Benign,\N,intron_variant,4.42,0.3207,1KG_AFR_AF,OTOF
432710,2:26753441:T>G,NM_194248.2:c.139-2653A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.956,\N,\N,OTOF
432711,2:26753444:C>T,NM_194248.2:c.139-2656G>A,\N,\N,2/46,Benign,\N,intron_variant,4.672,0.0058,1KG_AMR_AF,OTOF
432712,2:26753459:C>T,NM_194248.2:c.139-2671G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.87,\N,\N,OTOF
432713,2:26753462:T>TA,NM_194248.2:c.139-2675_139-2674insT,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432714,2:26753471:C>T,NM_194248.2:c.139-2683G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.401,\N,\N,OTOF
432715,2:26753488:C>G,NM_194248.2:c.139-2700G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.138,0.0014,1KG_AMR_AF,OTOF
432716,2:26753490:A>C,NM_194248.2:c.139-2702T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.042,\N,\N,OTOF
432717,2:26753521:C>T,NM_194248.2:c.139-2733G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.137,\N,\N,OTOF
432718,2:26753522:C>T,NM_194248.2:c.139-2734G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.769,\N,\N,OTOF
432719,2:26753537:C>CT,NM_194248.2:c.139-2750dup,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432720,2:26753555:A>G,NM_194248.2:c.139-2767T>C,\N,\N,2/46,Benign,\N,intron_variant,0.109,0.0083,1KG_AFR_AF,OTOF
432721,2:26753579:C>G,NM_194248.2:c.139-2791G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.681,0.001,1KG_EUR_AF,OTOF
432722,2:26753591:A>G,NM_194248.2:c.139-2803T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.658,0.0029,1KG_AMR_AF,OTOF
432723,2:26753605:C>G,NM_194248.2:c.139-2817G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,5.839,0.0015,1KG_AFR_AF,OTOF
432724,2:26753608:T>C,NM_194248.2:c.139-2820A>G,\N,\N,2/46,Benign,\N,intron_variant,2.673,0.0102,1KG_SAS_AF,OTOF
432725,2:26753629:G>C,NM_194248.2:c.139-2841C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.598,\N,\N,OTOF
432726,2:26753666:A>G,NM_194248.2:c.139-2878T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.92,\N,\N,OTOF
432727,2:26753671:C>G,NM_194248.2:c.139-2883G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.401,\N,\N,OTOF
432728,2:26753703:C>T,NM_194248.2:c.139-2915G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.414,0.0014,1KG_AMR_AF,OTOF
432729,2:26753704:G>C,NM_194248.2:c.139-2916C>G,\N,\N,2/46,Benign,\N,intron_variant,1.258,0.0133,1KG_SAS_AF,OTOF
432730,2:26753741:G>T,NM_194248.2:c.139-2953C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.661,0.001,1KG_SAS_AF,OTOF
432731,2:26753742:T>C,NM_194248.2:c.139-2954A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.919,0.0008,1KG_AFR_AF,OTOF
432732,2:26753752:C>T,NM_194248.2:c.139-2964G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.74,0.001,1KG_SAS_AF,OTOF
432733,2:26753762:C>T,NM_194248.2:c.139-2974G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.812,\N,\N,OTOF
432734,2:26753763:G>A,NM_194248.2:c.139-2975C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.796,0.001,1KG_EUR_AF,OTOF
432735,2:26753811:A>G,NM_194248.2:c.139-3023T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.579,0.001,1KG_EAS_AF,OTOF
432736,2:26753815:C>G,NM_194248.2:c.139-3027G>C,\N,\N,2/46,Benign,\N,intron_variant,3.935,0.5216,1KG_AMR_AF,OTOF
432737,2:26753849:G>C,NM_194248.2:c.139-3061C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.229,0.0008,1KG_AFR_AF,OTOF
432738,2:26753908:C>A,NM_194248.2:c.139-3120G>T,\N,\N,2/46,Benign,\N,intron_variant,4.767,0.0416,1KG_AFR_AF,OTOF
432739,2:26753918:G>C,NM_194248.2:c.139-3130C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.404,0.003,1KG_AFR_AF,OTOF
432740,2:26753940:G>C,NM_194248.2:c.139-3152C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.073,\N,\N,OTOF
432741,2:26753975:C>T,NM_194248.2:c.139-3187G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.589,0.001,1KG_EAS_AF,OTOF
432742,2:26754087:C>T,NM_194248.2:c.139-3299G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.039,\N,\N,OTOF
432743,2:26754092:C>G,NM_194248.2:c.139-3304G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.905,\N,\N,OTOF
432744,2:26754112:T>C,NM_194248.2:c.139-3324A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.822,0.002,1KG_SAS_AF,OTOF
432745,2:26754118:C>G,NM_194248.2:c.139-3330G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,5.06,\N,\N,OTOF
432746,2:26754125:G>A,NM_194248.2:c.139-3337C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.363,\N,\N,OTOF
432747,2:26754127:G>A,NM_194248.2:c.139-3339C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.922,0.0014,1KG_AMR_AF,OTOF
432748,2:26754140:C>T,NM_194248.2:c.139-3352G>A,\N,\N,2/46,Benign,\N,intron_variant,0.476,0.0144,1KG_AFR_AF,OTOF
432749,2:26754141:G>A,NM_194248.2:c.139-3353C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.911,0.001,1KG_SAS_AF,OTOF
432750,2:26754146:C>T,NM_194248.2:c.139-3358G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.91,0.0008,1KG_AFR_AF,OTOF
432751,2:26754148:G>A,NM_194248.2:c.139-3360C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.002,0.001,1KG_EAS_AF,OTOF
432752,2:26754157:C>T,NM_194248.2:c.139-3369G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.936,\N,\N,OTOF
432753,2:26754172:A>G,NM_194248.2:c.139-3384T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.453,\N,\N,OTOF
432754,2:26754192:G>A,NM_194248.2:c.139-3404C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.763,\N,\N,OTOF
432755,2:26754222:C>T,NM_194248.2:c.139-3434G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.022,\N,\N,OTOF
432756,2:26754255:A>AT,NM_194248.2:c.139-3468_139-3467insA,\N,\N,2/46,Benign,\N,intron_variant,0.592,0.0862,1KG_AFR_AF,OTOF
432757,2:26754255:A>ATG,NM_194248.2:c.139-3468_139-3467insCA,\N,\N,2/46,Unknown significance,\N,intron_variant,0.543,\N,\N,OTOF
432758,2:26754256:A>G,NM_194248.2:c.139-3468T>C,\N,\N,2/46,Benign,\N,intron_variant,0.537,0.0862,1KG_AFR_AF,OTOF
432759,2:26754256:A>T,NM_194248.2:c.139-3468T>A,\N,\N,2/46,Benign,\N,intron_variant,0.346,0.8404,1KG_AFR_AF,OTOF
432760,2:26754258:A>AG,NM_194248.2:c.139-3471dup,\N,\N,2/46,Unknown significance,\N,intron_variant,0.084,\N,\N,OTOF
432761,2:26754258:A>G,NM_194248.2:c.139-3470T>C,\N,\N,2/46,Benign,\N,intron_variant,0.601,0.9259,1KG_AFR_AF,OTOF
432762,2:26754264:G>A,NM_194248.2:c.139-3476C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.258,\N,\N,OTOF
432763,2:26754268:C>A,NM_194248.2:c.139-3480G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.503,\N,\N,OTOF
432764,2:26754299:T>G,NM_194248.2:c.139-3511A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.324,\N,\N,OTOF
432765,2:26754344:C>T,NM_194248.2:c.139-3556G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.289,0.002,1KG_EUR_AF,OTOF
432766,2:26754345:G>A,NM_194248.2:c.139-3557C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.727,\N,\N,OTOF
432767,2:26754345:G>T,NM_194248.2:c.139-3557C>A,\N,\N,2/46,Benign,\N,intron_variant,0.916,0.8238,1KG_AFR_AF,OTOF
432768,2:26754354:T>C,NM_194248.2:c.139-3566A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.51,0.0023,1KG_AFR_AF,OTOF
432769,2:26754370:T>TC,NM_194248.2:c.139-3583dup,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432770,2:26754381:A>G,NM_194248.2:c.139-3593T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.781,0.001,1KG_EUR_AF,OTOF
432771,2:26754395:T>G,NM_194248.2:c.139-3607A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.523,0.001,1KG_EAS_AF,OTOF
432772,2:26754415:G>C,NM_194248.2:c.139-3627C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.522,0.002,1KG_EUR_AF,OTOF
432773,2:26754437:C>T,NM_194248.2:c.139-3649G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.024,0.0015,1KG_AFR_AF,OTOF
432774,2:26754439:C>A,NM_194248.2:c.139-3651G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.145,\N,\N,OTOF
432775,2:26754441:G>A,NM_194248.2:c.139-3653C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.431,0.001,1KG_SAS_AF,OTOF
432776,2:26754488:T>G,NM_194248.2:c.139-3700A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.988,0.001,1KG_EUR_AF,OTOF
432777,2:26754498:T>A,NM_194248.2:c.139-3710A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.608,\N,\N,OTOF
432778,2:26754551:C>G,NM_194248.2:c.139-3763G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,7.277,0.003,1KG_EAS_AF,OTOF
432779,2:26754597:A>G,NM_194248.2:c.139-3809T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.56,0.0023,1KG_AFR_AF,OTOF
432780,2:26754631:C>T,NM_194248.2:c.139-3843G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.11,0.001,1KG_EAS_AF,OTOF
432781,2:26754666:AT>A,NM_194248.2:c.139-3879del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432782,2:26754697:C>T,NM_194248.2:c.139-3909G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.017,\N,\N,OTOF
432783,2:26754730:A>G,NM_194248.2:c.139-3942T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.181,0.002,1KG_SAS_AF,OTOF
432784,2:26754769:C>T,NM_194248.2:c.139-3981G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.084,0.0008,1KG_AFR_AF,OTOF
432785,2:26754789:C>G,NM_194248.2:c.139-4001G>C,\N,\N,2/46,Benign,\N,intron_variant,0.089,0.0133,1KG_SAS_AF,OTOF
432786,2:26754795:C>T,NM_194248.2:c.139-4007G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.596,\N,\N,OTOF
432787,2:26754841:A>C,NM_194248.2:c.139-4053T>G,\N,\N,2/46,Benign,\N,intron_variant,1.551,0.0635,1KG_AFR_AF,OTOF
432788,2:26754843:C>T,NM_194248.2:c.139-4055G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.108,\N,\N,OTOF
432789,2:26754875:C>T,NM_194248.2:c.139-4087G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.381,0.0045,1KG_AFR_AF,OTOF
432790,2:26754902:A>G,NM_194248.2:c.139-4114T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.942,0.001,1KG_SAS_AF,OTOF
432791,2:26754922:T>C,NM_194248.2:c.139-4134A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.953,\N,\N,OTOF
432792,2:26754960:C>CA,NM_194248.2:c.139-4173dup,\N,\N,2/46,Unknown significance,\N,intron_variant,4.78,\N,\N,OTOF
432793,2:26754960:CAAA>C,NM_194248.2:c.139-4175_139-4173del,\N,\N,2/46,Benign,\N,intron_variant,6.347,0.6513,1KG_AMR_AF,OTOF
432794,2:26754960:CAAAA>C,NM_194248.2:c.139-4176_139-4173del,\N,\N,2/46,Unknown significance,\N,intron_variant,6.404,\N,\N,OTOF
432795,2:26754960:CAAAAA>C,NM_194248.2:c.139-4177_139-4173del,\N,\N,2/46,Unknown significance,\N,intron_variant,6.432,\N,\N,OTOF
432796,2:26754989:A>T,NM_194248.2:c.139-4201T>A,\N,\N,2/46,Benign,\N,intron_variant,0.269,0.0204,1KG_AFR_AF,OTOF
432797,2:26754992:GA>G,NM_194248.2:c.139-4205del,\N,\N,2/46,Unknown significance,\N,intron_variant,0.055,\N,\N,OTOF
432798,2:26754993:A>G,NM_194248.2:c.139-4205T>C,\N,\N,2/46,Benign,\N,intron_variant,0.668,0.0635,1KG_AFR_AF,OTOF
432799,2:26755009:G>A,NM_194248.2:c.139-4221C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.122,0.004,1KG_EAS_AF,OTOF
432800,2:26755019:A>T,NM_194248.2:c.139-4231T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.129,\N,\N,OTOF
432801,2:26755046:G>A,NM_194248.2:c.139-4258C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.794,0.0045,1KG_AFR_AF,OTOF
432802,2:26755053:TACCCATA>T,NM_194248.2:c.139-4272_139-4266del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432803,2:26755123:A>G,NM_194248.2:c.139-4335T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.974,\N,\N,OTOF
432804,2:26755124:G>A,NM_194248.2:c.139-4336C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.162,0.0023,1KG_AFR_AF,OTOF
432805,2:26755132:C>T,NM_194248.2:c.139-4344G>A,\N,\N,2/46,Benign,\N,intron_variant,2.29,0.0083,1KG_AFR_AF,OTOF
432806,2:26755146:T>C,NM_194248.2:c.139-4358A>G,\N,\N,2/46,Benign,\N,intron_variant,4.31,0.0643,1KG_AFR_AF,OTOF
432807,2:26755185:G>A,NM_194248.2:c.139-4397C>T,\N,\N,2/46,Benign,\N,intron_variant,0.51,0.1157,1KG_AFR_AF,OTOF
432808,2:26755192:A>C,NM_194248.2:c.139-4404T>G,\N,\N,2/46,Benign,\N,intron_variant,2.386,0.0266,1KG_SAS_AF,OTOF
432809,2:26755198:G>C,NM_194248.2:c.139-4410C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.107,\N,\N,OTOF
432810,2:26755203:C>G,NM_194248.2:c.139-4415G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.92,\N,\N,OTOF
432811,2:26755307:C>A,NM_194248.2:c.139-4519G>T,\N,\N,2/46,Benign,\N,intron_variant,11.23,0.1256,1KG_AFR_AF,OTOF
432812,2:26755332:G>T,NM_194248.2:c.139-4544C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.263,0.001,1KG_EAS_AF,OTOF
432813,2:26755336:A>G,NM_194248.2:c.139-4548T>C,\N,\N,2/46,Benign,\N,intron_variant,2.777,0.0182,1KG_AFR_AF,OTOF
432814,2:26755365:G>A,NM_194248.2:c.139-4577C>T,\N,\N,2/46,Benign,\N,intron_variant,11.68,0.5403,1KG_AMR_AF,OTOF
432815,2:26755378:C>T,NM_194248.2:c.139-4590G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.879,\N,\N,OTOF
432816,2:26755391:G>T,NM_194248.2:c.139-4603C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.298,\N,\N,OTOF
432817,2:26755395:G>T,NM_194248.2:c.139-4607C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.458,0.001,1KG_EAS_AF,OTOF
432818,2:26755397:A>G,NM_194248.2:c.139-4609T>C,\N,\N,2/46,Benign,\N,intron_variant,5.956,0.7352,1KG_AFR_AF,OTOF
432819,2:26755432:G>A,NM_194248.2:c.139-4644C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.812,0.004,1KG_EAS_AF,OTOF
432820,2:26755502:G>T,NM_194248.2:c.139-4714C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.23,\N,\N,OTOF
432821,2:26755505:G>C,NM_194248.2:c.139-4717C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.926,0.0008,1KG_AFR_AF,OTOF
432822,2:26755524:G>A,NM_194248.2:c.139-4736C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,7.26,0.0014,1KG_AMR_AF,OTOF
432823,2:26755551:A>G,NM_194248.2:c.139-4763T>C,\N,\N,2/46,Benign,\N,intron_variant,4.487,0.7799,1KG_AFR_AF,OTOF
432824,2:26755563:C>T,NM_194248.2:c.139-4775G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.302,0.001,1KG_SAS_AF,OTOF
432825,2:26755573:T>A,NM_194248.2:c.139-4785A>T,\N,\N,2/46,Benign,\N,intron_variant,4.833,0.1256,1KG_AFR_AF,OTOF
432826,2:26755608:C>T,NM_194248.2:c.139-4820G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,16.84,0.001,1KG_SAS_AF,OTOF
432827,2:26755632:G>A,NM_194248.2:c.139-4844C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,7.312,\N,\N,OTOF
432828,2:26755645:G>T,NM_194248.2:c.139-4857C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,11.15,0.0008,1KG_AFR_AF,OTOF
432829,2:26755658:C>T,NM_194248.2:c.139-4870G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,15.14,\N,\N,OTOF
432830,2:26755688:T>G,NM_194248.2:c.138+4896A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,9.736,\N,\N,OTOF
432831,2:26755697:G>A,NM_194248.2:c.138+4887C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.102,\N,\N,OTOF
432832,2:26755698:T>C,NM_194248.2:c.138+4886A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.361,0.001,1KG_SAS_AF,OTOF
432833,2:26755701:C>T,NM_194248.2:c.138+4883G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.062,\N,\N,OTOF
432834,2:26755735:C>T,NM_194248.2:c.138+4849G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.665,0.0008,1KG_AFR_AF,OTOF
432835,2:26755736:G>A,NM_194248.2:c.138+4848C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.246,\N,\N,OTOF
432836,2:26755741:G>C,NM_194248.2:c.138+4843C>G,\N,\N,2/46,Benign,\N,intron_variant,0.404,0.8828,1KG_AFR_AF,OTOF
432837,2:26755797:T>C,NM_194248.2:c.138+4787A>G,\N,\N,2/46,Benign,\N,intron_variant,3.387,0.0099,1KG_EAS_AF,OTOF
432838,2:26755852:A>G,NM_194248.2:c.138+4732T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.598,\N,\N,OTOF
432839,2:26755858:C>T,NM_194248.2:c.138+4726G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.862,0.0043,1KG_AMR_AF,OTOF
432840,2:26755880:C>A,NM_194248.2:c.138+4704G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.497,0.0008,1KG_AFR_AF,OTOF
432841,2:26755918:G>A,NM_194248.2:c.138+4666C>T,\N,\N,2/46,Benign,\N,intron_variant,2.722,0.0166,1KG_AFR_AF,OTOF
432842,2:26755922:C>T,NM_194248.2:c.138+4662G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.737,\N,\N,OTOF
432843,2:26755925:G>A,NM_194248.2:c.138+4659C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.469,0.001,1KG_SAS_AF,OTOF
432844,2:26755927:G>A,NM_194248.2:c.138+4657C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.529,\N,\N,OTOF
432845,2:26755942:C>T,NM_194248.2:c.138+4642G>A,\N,\N,2/46,Benign,\N,intron_variant,0.296,0.0401,1KG_AFR_AF,OTOF
432846,2:26756008:T>C,NM_194248.2:c.138+4576A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.999,\N,\N,OTOF
432847,2:26756040:G>A,NM_194248.2:c.138+4544C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.444,0.001,1KG_EUR_AF,OTOF
432848,2:26756043:C>A,NM_194248.2:c.138+4541G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.146,\N,\N,OTOF
432849,2:26756063:C>T,NM_194248.2:c.138+4521G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.991,\N,\N,OTOF
432850,2:26756079:G>A,NM_194248.2:c.138+4505C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.99,0.001,1KG_EAS_AF,OTOF
432851,2:26756080:G>T,NM_194248.2:c.138+4504C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.072,\N,\N,OTOF
432852,2:26756104:C>T,NM_194248.2:c.138+4480G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.227,\N,\N,OTOF
432853,2:26756107:G>A,NM_194248.2:c.138+4477C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.761,\N,\N,OTOF
432854,2:26756145:C>T,NM_194248.2:c.138+4439G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.084,\N,\N,OTOF
432855,2:26756170:G>T,NM_194248.2:c.138+4414C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.092,0.001,1KG_EAS_AF,OTOF
432856,2:26756171:G>A,NM_194248.2:c.138+4413C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.228,0.001,1KG_SAS_AF,OTOF
432857,2:26756177:G>A,NM_194248.2:c.138+4407C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.41,\N,\N,OTOF
432858,2:26756179:C>A,NM_194248.2:c.138+4405G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.987,0.0015,1KG_AFR_AF,OTOF
432859,2:26756193:T>C,NM_194248.2:c.138+4391A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.417,\N,\N,OTOF
432860,2:26756196:A>G,NM_194248.2:c.138+4388T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.939,0.0008,1KG_AFR_AF,OTOF
432861,2:26756204:G>T,NM_194248.2:c.138+4380C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.363,\N,\N,OTOF
432862,2:26756208:C>T,NM_194248.2:c.138+4376G>A,\N,\N,2/46,Benign,\N,intron_variant,0.515,0.5403,1KG_AMR_AF,OTOF
432863,2:26756209:G>A,NM_194248.2:c.138+4375C>T,\N,\N,2/46,Benign,\N,intron_variant,0.08,0.0635,1KG_AFR_AF,OTOF
432864,2:26756215:G>T,NM_194248.2:c.138+4369C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.69,0.001,1KG_SAS_AF,OTOF
432865,2:26756218:A>T,NM_194248.2:c.138+4366T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.305,0.0038,1KG_AFR_AF,OTOF
432866,2:26756232:G>C,NM_194248.2:c.138+4352C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.336,\N,\N,OTOF
432867,2:26756243:C>CCG,NM_194248.2:c.138+4339_138+4340dup,\N,\N,2/46,Unknown significance,\N,intron_variant,1.859,\N,\N,OTOF
432868,2:26756245:G>A,NM_194248.2:c.138+4339C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.98,\N,\N,OTOF
432869,2:26756262:T>C,NM_194248.2:c.138+4322A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.956,0.001,1KG_SAS_AF,OTOF
432870,2:26756266:C>A,NM_194248.2:c.138+4318G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.766,0.0008,1KG_AFR_AF,OTOF
432871,2:26756270:G>A,NM_194248.2:c.138+4314C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.672,0.001,1KG_EAS_AF,OTOF
432872,2:26756304:C>G,NM_194248.2:c.138+4280G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.227,0.001,1KG_EUR_AF,OTOF
432873,2:26756336:T>A,NM_194248.2:c.138+4248A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,7.99,\N,\N,OTOF
432874,2:26756366:A>C,NM_194248.2:c.138+4218T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.592,\N,\N,OTOF
432875,2:26756438:T>G,NM_194248.2:c.138+4146A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,9.292,\N,\N,OTOF
432876,2:26756450:G>A,NM_194248.2:c.138+4134C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.308,0.0008,1KG_AFR_AF,OTOF
432877,2:26756453:T>C,NM_194248.2:c.138+4131A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,7.441,0.001,1KG_SAS_AF,OTOF
432878,2:26756571:C>T,NM_194248.2:c.138+4013G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,10.75,0.0008,1KG_AFR_AF,OTOF
432879,2:26756594:G>A,NM_194248.2:c.138+3990C>T,\N,\N,2/46,Benign,\N,intron_variant,1.864,0.0197,1KG_AFR_AF,OTOF
432880,2:26756604:C>T,NM_194248.2:c.138+3980G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.119,0.001,1KG_EUR_AF,OTOF
432881,2:26756613:G>T,NM_194248.2:c.138+3971C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.091,0.001,1KG_EUR_AF,OTOF
432882,2:26756651:T>C,NM_194248.2:c.138+3933A>G,\N,\N,2/46,Benign,\N,intron_variant,5.602,0.5403,1KG_AMR_AF,OTOF
432883,2:26756665:C>T,NM_194248.2:c.138+3919G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.822,\N,\N,OTOF
432884,2:26756666:G>A,NM_194248.2:c.138+3918C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.528,0.001,1KG_EUR_AF,OTOF
432885,2:26756723:C>T,NM_194248.2:c.138+3861G>A,\N,\N,2/46,Benign,\N,intron_variant,4.136,0.0144,1KG_AFR_AF,OTOF
432886,2:26756724:G>A,NM_194248.2:c.138+3860C>T,\N,\N,2/46,Benign,\N,intron_variant,2.529,0.0053,1KG_AFR_AF,OTOF
432887,2:26756732:C>T,NM_194248.2:c.138+3852G>A,\N,\N,2/46,Benign,\N,intron_variant,7.169,0.0149,1KG_EUR_AF,OTOF
432888,2:26756749:C>A,NM_194248.2:c.138+3835G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,8.246,0.0008,1KG_AFR_AF,OTOF
432889,2:26756764:A>C,NM_194248.2:c.138+3820T>G,\N,\N,2/46,Benign,\N,intron_variant,1.551,0.5403,1KG_AMR_AF,OTOF
432890,2:26756773:A>C,NM_194248.2:c.138+3811T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.395,0.001,1KG_EUR_AF,OTOF
432891,2:26756803:C>G,NM_194248.2:c.138+3781G>C,\N,\N,2/46,Benign,\N,intron_variant,4.327,0.0476,1KG_EAS_AF,OTOF
432892,2:26756814:C>T,NM_194248.2:c.138+3770G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,9.602,0.002,1KG_SAS_AF,OTOF
432893,2:26756840:G>C,NM_194248.2:c.138+3744C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.997,0.002,1KG_SAS_AF,OTOF
432894,2:26756843:T>C,NM_194248.2:c.138+3741A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,6.773,\N,\N,OTOF
432895,2:26756866:T>A,NM_194248.2:c.138+3718A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,9.549,0.0008,1KG_AFR_AF,OTOF
432896,2:26756887:C>T,NM_194248.2:c.138+3697G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.241,\N,\N,OTOF
432897,2:26756889:C>T,NM_194248.2:c.138+3695G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.894,\N,\N,OTOF
432898,2:26756915:G>A,NM_194248.2:c.138+3669C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,7.634,\N,\N,OTOF
432899,2:26756970:G>A,NM_194248.2:c.138+3614C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.018,0.0015,1KG_AFR_AF,OTOF
432900,2:26756972:G>C,NM_194248.2:c.138+3612C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.981,0.0045,1KG_AFR_AF,OTOF
432901,2:26756980:C>G,NM_194248.2:c.138+3604G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,6.173,\N,\N,OTOF
432902,2:26757008:G>A,NM_194248.2:c.138+3576C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.042,0.003,1KG_EAS_AF,OTOF
432903,2:26757031:T>C,NM_194248.2:c.138+3553A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.303,\N,\N,OTOF
432904,2:26757049:C>G,NM_194248.2:c.138+3535G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.805,0.0008,1KG_AFR_AF,OTOF
432905,2:26757069:C>G,NM_194248.2:c.138+3515G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.606,\N,\N,OTOF
432906,2:26757105:T>C,NM_194248.2:c.138+3479A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.899,0.0029,1KG_AMR_AF,OTOF
432907,2:26757152:G>A,NM_194248.2:c.138+3432C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,12.35,\N,\N,OTOF
432908,2:26757169:G>T,NM_194248.2:c.138+3415C>A,\N,\N,2/46,Benign,\N,intron_variant,14.48,0.5403,1KG_AMR_AF,OTOF
432909,2:26757190:A>G,NM_194248.2:c.138+3394T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,13.31,0.001,1KG_EUR_AF,OTOF
432910,2:26757201:G>T,NM_194248.2:c.138+3383C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,11.24,0.0008,1KG_AFR_AF,OTOF
432911,2:26757215:T>A,NM_194248.2:c.138+3369A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,8.896,\N,\N,OTOF
432912,2:26757233:G>C,NM_194248.2:c.138+3351C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,9.483,\N,\N,OTOF
432913,2:26757272:T>A,NM_194248.2:c.138+3312A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,21.1,0.001,1KG_EAS_AF,OTOF
432914,2:26757344:C>A,NM_194248.2:c.138+3240G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,19.24,0.001,1KG_EAS_AF,OTOF
432915,2:26757365:T>A,NM_194248.2:c.138+3219A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,22.2,0.001,1KG_EAS_AF,OTOF
432916,2:26757371:T>A,NM_194248.2:c.138+3213A>T,\N,\N,2/46,Benign,\N,intron_variant,19.66,0.0089,1KG_EUR_AF,OTOF
432917,2:26757385:C>T,NM_194248.2:c.138+3199G>A,\N,\N,2/46,Benign,\N,intron_variant,11.39,0.0174,1KG_AFR_AF,OTOF
432918,2:26757393:C>T,NM_194248.2:c.138+3191G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,20.9,\N,\N,OTOF
432919,2:26757434:T>C,NM_194248.2:c.138+3150A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,11.75,0.0014,1KG_AMR_AF,OTOF
432920,2:26757455:C>T,NM_194248.2:c.138+3129G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,10.5,\N,\N,OTOF
432921,2:26757456:C>T,NM_194248.2:c.138+3128G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,10.65,0.002,1KG_EUR_AF,OTOF
432922,2:26757468:G>A,NM_194248.2:c.138+3116C>T,\N,\N,2/46,Benign,\N,intron_variant,10.7,0.4501,1KG_AFR_AF,OTOF
432923,2:26757476:T>C,NM_194248.2:c.138+3108A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.845,\N,\N,OTOF
432924,2:26757482:G>C,NM_194248.2:c.138+3102C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.203,0.001,1KG_EAS_AF,OTOF
432925,2:26757504:C>T,NM_194248.2:c.138+3080G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.858,0.002,1KG_EUR_AF,OTOF
432926,2:26757525:C>CT,NM_194248.2:c.138+3058dup,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,0.002,1KG_SAS_AF,OTOF
432927,2:26757531:T>C,NM_194248.2:c.138+3053A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.425,\N,\N,OTOF
432928,2:26757547:C>G,NM_194248.2:c.138+3037G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.577,0.001,1KG_SAS_AF,OTOF
432929,2:26757549:C>T,NM_194248.2:c.138+3035G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.3,0.001,1KG_EUR_AF,OTOF
432930,2:26757550:G>A,NM_194248.2:c.138+3034C>T,\N,\N,2/46,Benign,\N,intron_variant,2.361,0.0069,1KG_EAS_AF,OTOF
432931,2:26757555:G>T,NM_194248.2:c.138+3029C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.404,\N,\N,OTOF
432932,2:26757574:T>C,NM_194248.2:c.138+3010A>G,\N,\N,2/46,Benign,\N,intron_variant,1.51,0.5432,1KG_AMR_AF,OTOF
432933,2:26757606:C>T,NM_194248.2:c.138+2978G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.857,0.001,1KG_EAS_AF,OTOF
432934,2:26757612:A>T,NM_194248.2:c.138+2972T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.559,0.001,1KG_SAS_AF,OTOF
432935,2:26757618:C>A,NM_194248.2:c.138+2966G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,15.95,0.001,1KG_EAS_AF,OTOF
432936,2:26757674:G>A,NM_194248.2:c.138+2910C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.933,\N,\N,OTOF
432937,2:26757683:G>A,NM_194248.2:c.138+2901C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.181,0.001,1KG_EAS_AF,OTOF
432938,2:26757696:C>A,NM_194248.2:c.138+2888G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.246,0.0008,1KG_AFR_AF,OTOF
432939,2:26757705:A>G,NM_194248.2:c.138+2879T>C,\N,\N,2/46,Benign,\N,intron_variant,4.265,0.9266,1KG_AFR_AF,OTOF
432940,2:26757705:AC>GT,NM_194248.2:c.138+2878_138+2879inv,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432941,2:26757706:C>T,NM_194248.2:c.138+2878G>A,\N,\N,2/46,Benign,\N,intron_variant,1.401,0.0091,1KG_AFR_AF,OTOF
432942,2:26757707:G>A,NM_194248.2:c.138+2877C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.179,\N,\N,OTOF
432943,2:26757743:A>G,NM_194248.2:c.138+2841T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.704,0.0014,1KG_AMR_AF,OTOF
432944,2:26757760:C>T,NM_194248.2:c.138+2824G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.002,\N,\N,OTOF
432945,2:26757783:C>T,NM_194248.2:c.138+2801G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.256,0.001,1KG_EAS_AF,OTOF
432946,2:26757795:A>C,NM_194248.2:c.138+2789T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.815,0.0008,1KG_AFR_AF,OTOF
432947,2:26757808:G>C,NM_194248.2:c.138+2776C>G,\N,\N,2/46,Benign,\N,intron_variant,0.492,0.0061,1KG_AFR_AF,OTOF
432948,2:26757896:G>T,NM_194248.2:c.138+2688C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.531,0.001,1KG_EAS_AF,OTOF
432949,2:26757912:C>T,NM_194248.2:c.138+2672G>A,\N,\N,2/46,Benign,\N,intron_variant,0.418,0.1309,1KG_AFR_AF,OTOF
432950,2:26757918:G>A,NM_194248.2:c.138+2666C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.02,\N,\N,OTOF
432951,2:26757926:A>G,NM_194248.2:c.138+2658T>C,\N,\N,2/46,Benign,\N,intron_variant,2.516,0.5403,1KG_AMR_AF,OTOF
432952,2:26758000:A>G,NM_194248.2:c.138+2584T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.542,\N,\N,OTOF
432953,2:26758029:G>A,NM_194248.2:c.138+2555C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.605,0.001,1KG_EUR_AF,OTOF
432954,2:26758032:G>A,NM_194248.2:c.138+2552C>T,\N,\N,2/46,Benign,\N,intron_variant,0.809,0.5403,1KG_AMR_AF,OTOF
432955,2:26758047:C>G,NM_194248.2:c.138+2537G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.372,\N,\N,OTOF
432956,2:26758049:C>T,NM_194248.2:c.138+2535G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.063,\N,\N,OTOF
432957,2:26758053:C>A,NM_194248.2:c.138+2531G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.301,\N,\N,OTOF
432958,2:26758057:G>T,NM_194248.2:c.138+2527C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.457,\N,\N,OTOF
432959,2:26758058:C>T,NM_194248.2:c.138+2526G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.474,\N,\N,OTOF
432960,2:26758064:TG>T,NM_194248.2:c.138+2519del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
432961,2:26758076:G>T,NM_194248.2:c.138+2508C>A,\N,\N,2/46,Benign,\N,intron_variant,7.144,0.0102,1KG_SAS_AF,OTOF
432962,2:26758106:G>A,NM_194248.2:c.138+2478C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.302,\N,\N,OTOF
432963,2:26758188:C>A,NM_194248.2:c.138+2396G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.629,\N,\N,OTOF
432964,2:26758197:G>A,NM_194248.2:c.138+2387C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.289,\N,\N,OTOF
432965,2:26758205:A>G,NM_194248.2:c.138+2379T>C,\N,\N,2/46,Benign,\N,intron_variant,4.387,0.044,1KG_SAS_AF,OTOF
432966,2:26758219:T>C,NM_194248.2:c.138+2365A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,4.084,0.002,1KG_SAS_AF,OTOF
432967,2:26758236:G>A,NM_194248.2:c.138+2348C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.126,0.0008,1KG_AFR_AF,OTOF
432968,2:26758262:C>T,NM_194248.2:c.138+2322G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.224,\N,\N,OTOF
432969,2:26758285:C>T,NM_194248.2:c.138+2299G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.353,\N,\N,OTOF
432970,2:26758286:G>A,NM_194248.2:c.138+2298C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.296,\N,\N,OTOF
432971,2:26758289:G>C,NM_194248.2:c.138+2295C>G,\N,\N,2/46,Benign,\N,intron_variant,1.487,0.0051,1KG_SAS_AF,OTOF
432972,2:26758307:C>T,NM_194248.2:c.138+2277G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.105,0.001,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
432973,2:26758308:G>A,NM_194248.2:c.138+2276C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.086,0.002,1KG_SAS_AF,OTOF
432974,2:26758335:C>T,NM_194248.2:c.138+2249G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.557,\N,\N,OTOF
432975,2:26758365:C>T,NM_194248.2:c.138+2219G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.595,0.0031,1KG_SAS_AF,OTOF
432976,2:26758367:A>G,NM_194248.2:c.138+2217T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.445,\N,\N,OTOF
432977,2:26758390:C>A,NM_194248.2:c.138+2194G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.961,0.003,1KG_EAS_AF,OTOF
432978,2:26758417:C>T,NM_194248.2:c.138+2167G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.28,0.0015,1KG_AFR_AF,OTOF
432979,2:26758418:G>A,NM_194248.2:c.138+2166C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.366,0.004,1KG_EAS_AF,OTOF
432980,2:26758422:A>G,NM_194248.2:c.138+2162T>C,\N,\N,2/46,Benign,\N,intron_variant,3.93,0.0091,1KG_AFR_AF,OTOF
432981,2:26758445:T>C,NM_194248.2:c.138+2139A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.214,\N,\N,OTOF
432982,2:26758458:G>A,NM_194248.2:c.138+2126C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.017,\N,\N,OTOF
432983,2:26758459:C>T,NM_194248.2:c.138+2125G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.132,\N,\N,OTOF
432984,2:26758460:G>A,NM_194248.2:c.138+2124C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.105,0.0029,1KG_AMR_AF,OTOF
432985,2:26758485:T>C,NM_194248.2:c.138+2099A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.708,\N,\N,OTOF
432986,2:26758542:T>C,NM_194248.2:c.138+2042A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.202,0.001,1KG_SAS_AF,OTOF
432987,2:26758576:G>A,NM_194248.2:c.138+2008C>T,\N,\N,2/46,Benign,\N,intron_variant,2.589,0.0169,1KG_EAS_AF,OTOF
432988,2:26758620:G>A,NM_194248.2:c.138+1964C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.352,0.0031,1KG_SAS_AF,OTOF
432989,2:26758647:T>C,NM_194248.2:c.138+1937A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.45,0.0008,1KG_AFR_AF,OTOF
432990,2:26758687:C>G,NM_194248.2:c.138+1897G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.27,0.0008,1KG_AFR_AF,OTOF
432991,2:26758703:C>T,NM_194248.2:c.138+1881G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.033,0.001,1KG_EAS_AF,OTOF
432992,2:26758704:G>A,NM_194248.2:c.138+1880C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.629,0.001,1KG_EUR_AF,OTOF
432993,2:26758721:C>T,NM_194248.2:c.138+1863G>A,\N,\N,2/46,Benign,\N,intron_variant,13.24,0.0098,1KG_AFR_AF,OTOF
432994,2:26758730:G>A,NM_194248.2:c.138+1854C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,18.52,0.0015,1KG_AFR_AF,OTOF
432995,2:26758736:C>A,NM_194248.2:c.138+1848G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,20.8,0.0043,1KG_AMR_AF,OTOF
432996,2:26758752:T>C,NM_194248.2:c.138+1832A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,18.15,0.0008,1KG_AFR_AF,OTOF
432997,2:26758755:C>A,NM_194248.2:c.138+1829G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,18.32,0.001,1KG_EUR_AF,OTOF
432998,2:26758775:G>A,NM_194248.2:c.138+1809C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,6.031,0.001,1KG_EUR_AF,OTOF
432999,2:26758776:C>T,NM_194248.2:c.138+1808G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.897,\N,\N,OTOF
433000,2:26758781:G>A,NM_194248.2:c.138+1803C>T,\N,\N,2/46,Benign,\N,intron_variant,2.935,0.0069,1KG_EAS_AF,OTOF
433001,2:26758795:T>A,NM_194248.2:c.138+1789A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,11.12,\N,\N,OTOF
433002,2:26758803:C>T,NM_194248.2:c.138+1781G>A,\N,\N,2/46,Benign,\N,intron_variant,15.57,0.5259,1KG_AMR_AF,OTOF
433003,2:26758804:C>T,NM_194248.2:c.138+1780G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,17.46,\N,\N,OTOF
433004,2:26758839:C>T,NM_194248.2:c.138+1745G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,16.71,\N,\N,OTOF
433005,2:26758863:G>A,NM_194248.2:c.138+1721C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,19.71,0.0045,1KG_AFR_AF,OTOF
433006,2:26758894:C>T,NM_194248.2:c.138+1690G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.79,\N,\N,OTOF
433007,2:26758934:A>G,NM_194248.2:c.138+1650T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.945,0.001,1KG_EAS_AF,OTOF
433008,2:26758942:C>A,NM_194248.2:c.138+1642G>T,\N,\N,2/46,Benign,\N,intron_variant,6.384,0.0308,1KG_EUR_AF,OTOF
433009,2:26758944:G>T,NM_194248.2:c.138+1640C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.012,0.0008,1KG_AFR_AF,OTOF
433010,2:26759020:G>A,NM_194248.2:c.138+1564C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.119,0.001,1KG_SAS_AF,OTOF
433011,2:26759093:A>G,NM_194248.2:c.138+1491T>C,\N,\N,2/46,Benign,\N,intron_variant,3.745,0.0061,1KG_SAS_AF,OTOF
433012,2:26759137:C>T,NM_194248.2:c.138+1447G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.465,\N,\N,OTOF
433013,2:26759144:A>T,NM_194248.2:c.138+1440T>A,\N,\N,2/46,Benign,\N,intron_variant,2.183,0.0068,1KG_AFR_AF,OTOF
433014,2:26759165:T>G,NM_194248.2:c.138+1419A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.47,0.0045,1KG_AFR_AF,OTOF
433015,2:26759184:G>A,NM_194248.2:c.138+1400C>T,\N,\N,2/46,Benign,\N,intron_variant,1.467,0.0159,1KG_AFR_AF,OTOF
433016,2:26759200:G>A,NM_194248.2:c.138+1384C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,6.67,\N,\N,OTOF
433017,2:26759205:G>A,NM_194248.2:c.138+1379C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.743,0.0041,1KG_SAS_AF,OTOF
433018,2:26759209:G>A,NM_194248.2:c.138+1375C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.052,0.0008,1KG_AFR_AF,OTOF
433019,2:26759220:C>T,NM_194248.2:c.138+1364G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.308,\N,\N,OTOF
433020,2:26759222:G>A,NM_194248.2:c.138+1362C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.666,0.002,1KG_EUR_AF|1KG_SAS_AF,OTOF
433021,2:26759241:T>C,NM_194248.2:c.138+1343A>G,\N,\N,2/46,Benign,\N,intron_variant,2.747,0.0537,1KG_AFR_AF,OTOF
433022,2:26759283:T>C,NM_194248.2:c.138+1301A>G,\N,\N,2/46,Benign,\N,intron_variant,2.754,0.0673,1KG_AFR_AF,OTOF
433023,2:26759288:A>G,NM_194248.2:c.138+1296T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.627,\N,\N,OTOF
433024,2:26759314:C>T,NM_194248.2:c.138+1270G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.386,\N,\N,OTOF
433025,2:26759315:G>A,NM_194248.2:c.138+1269C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.504,0.002,1KG_EUR_AF,OTOF
433026,2:26759326:G>T,NM_194248.2:c.138+1258C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.511,\N,\N,OTOF
433027,2:26759330:G>C,NM_194248.2:c.138+1254C>G,\N,\N,2/46,Benign,\N,intron_variant,1.828,0.0061,1KG_SAS_AF,OTOF
433028,2:26759333:A>T,NM_194248.2:c.138+1251T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.962,0.0008,1KG_AFR_AF,OTOF
433029,2:26759336:G>T,NM_194248.2:c.138+1248C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.183,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
433030,2:26759349:C>T,NM_194248.2:c.138+1235G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.799,\N,\N,OTOF
433031,2:26759350:C>T,NM_194248.2:c.138+1234G>A,\N,\N,2/46,Benign,\N,intron_variant,0.214,0.005,1KG_EAS_AF,OTOF
433032,2:26759363:G>A,NM_194248.2:c.138+1221C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.152,\N,\N,OTOF
433033,2:26759373:A>G,NM_194248.2:c.138+1211T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.039,\N,\N,OTOF
433034,2:26759386:G>A,NM_194248.2:c.138+1198C>T,\N,\N,2/46,Benign,\N,intron_variant,3.904,0.0082,1KG_SAS_AF,OTOF
433035,2:26759404:T>C,NM_194248.2:c.138+1180A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.155,\N,\N,OTOF
433036,2:26759406:T>G,NM_194248.2:c.138+1178A>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.088,0.0015,1KG_AFR_AF,OTOF
433037,2:26759409:C>T,NM_194248.2:c.138+1175G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.115,\N,\N,OTOF
433038,2:26759436:C>T,NM_194248.2:c.138+1148G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.482,\N,\N,OTOF
433039,2:26759442:G>T,NM_194248.2:c.138+1142C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.162,\N,\N,OTOF
433040,2:26759462:G>A,NM_194248.2:c.138+1122C>T,\N,\N,2/46,Benign,\N,intron_variant,5.555,0.0076,1KG_AFR_AF,OTOF
433041,2:26759480:G>A,NM_194248.2:c.138+1104C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.764,0.0008,1KG_AFR_AF,OTOF
433042,2:26759509:C>A,NM_194248.2:c.138+1075G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.664,\N,\N,OTOF
433043,2:26759510:G>A,NM_194248.2:c.138+1074C>T,\N,\N,2/46,Benign,\N,intron_variant,1.601,0.0072,1KG_SAS_AF,OTOF
433044,2:26759522:C>A,NM_194248.2:c.138+1062G>T,\N,\N,2/46,Benign,\N,intron_variant,5.585,0.006,1KG_EUR_AF,OTOF
433045,2:26759528:T>C,NM_194248.2:c.138+1056A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,4.531,0.001,1KG_SAS_AF,OTOF
433046,2:26759553:C>T,NM_194248.2:c.138+1031G>A,\N,\N,2/46,Benign,\N,intron_variant,2.914,0.006,1KG_EAS_AF,OTOF
433047,2:26759574:C>T,NM_194248.2:c.138+1010G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.574,\N,\N,OTOF
433048,2:26759577:A>C,NM_194248.2:c.138+1007T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.84,0.001,1KG_SAS_AF,OTOF
433049,2:26759579:C>T,NM_194248.2:c.138+1005G>A,\N,\N,2/46,Benign,\N,intron_variant,0.382,0.4539,1KG_AMR_AF,OTOF
433050,2:26759580:G>A,NM_194248.2:c.138+1004C>T,\N,\N,2/46,Benign,\N,intron_variant,0.448,0.2566,1KG_SAS_AF,OTOF
433051,2:26759603:G>A,NM_194248.2:c.138+981C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.444,\N,\N,OTOF
433052,2:26759604:G>A,NM_194248.2:c.138+980C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.982,0.002,1KG_EUR_AF,OTOF
433053,2:26759610:C>T,NM_194248.2:c.138+974G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.618,\N,\N,OTOF
433054,2:26759635:T>A,NM_194248.2:c.138+949A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,7.883,0.0031,1KG_SAS_AF,OTOF
433055,2:26759653:T>C,NM_194248.2:c.138+931A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,3.924,\N,\N,OTOF
433056,2:26759659:C>T,NM_194248.2:c.138+925G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.648,0.0015,1KG_AFR_AF,OTOF
433057,2:26759660:G>A,NM_194248.2:c.138+924C>T,\N,\N,2/46,Benign,\N,intron_variant,2.175,0.5144,1KG_AMR_AF,OTOF
433058,2:26759671:G>A,NM_194248.2:c.138+913C>T,\N,\N,2/46,Benign,\N,intron_variant,3.506,0.0779,1KG_AFR_AF,OTOF
433059,2:26759706:A>G,NM_194248.2:c.138+878T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.67,0.0045,1KG_AFR_AF,OTOF
433060,2:26759707:G>T,NM_194248.2:c.138+877C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.284,0.001,1KG_EUR_AF,OTOF
433061,2:26759716:G>A,NM_194248.2:c.138+868C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.039,0.0041,1KG_SAS_AF,OTOF
433062,2:26759724:T>C,NM_194248.2:c.138+860A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.929,\N,\N,OTOF
433063,2:26759752:C>T,NM_194248.2:c.138+832G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.783,\N,\N,OTOF
433064,2:26759771:G>A,NM_194248.2:c.138+813C>T,\N,\N,2/46,Benign,\N,intron_variant,0.073,0.0068,1KG_AFR_AF,OTOF
433065,2:26759781:G>A,NM_194248.2:c.138+803C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.166,0.0014,1KG_AMR_AF,OTOF
433066,2:26759797:GGT>G,NM_194248.2:c.138+785_138+786del,\N,\N,2/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433067,2:26759800:G>A,NM_194248.2:c.138+784C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.428,\N,\N,OTOF
433068,2:26759829:C>T,NM_194248.2:c.138+755G>A,\N,\N,2/46,Benign,\N,intron_variant,0.276,0.0153,1KG_SAS_AF,OTOF
433069,2:26759838:A>G,NM_194248.2:c.138+746T>C,\N,\N,2/46,Benign,\N,intron_variant,5.09,0.5648,1KG_AMR_AF,OTOF
433070,2:26759840:C>T,NM_194248.2:c.138+744G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.741,\N,\N,OTOF
433071,2:26759848:A>C,NM_194248.2:c.138+736T>G,\N,\N,2/46,Benign,\N,intron_variant,0.028,0.5533,1KG_AMR_AF,OTOF
433072,2:26759848:AGG>CGC,NM_194248.2:c.138+734_138+736delinsGCG,\N,\N,2/46,Unknown significance,\N,intron_variant,2.037,\N,\N,OTOF
433073,2:26759849:G>C,NM_194248.2:c.138+735C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.817,\N,\N,OTOF
433074,2:26759850:G>C,NM_194248.2:c.138+734C>G,\N,\N,2/46,Benign,\N,intron_variant,0.853,0.0274,1KG_AMR_AF,OTOF
433075,2:26759851:G>A,NM_194248.2:c.138+733C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.447,0.002,1KG_EUR_AF,OTOF
433076,2:26759859:A>C,NM_194248.2:c.138+725T>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.704,0.001,1KG_SAS_AF,OTOF
433077,2:26759867:G>A,NM_194248.2:c.138+717C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.956,\N,\N,OTOF
433078,2:26759898:C>T,NM_194248.2:c.138+686G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,3.792,\N,\N,OTOF
433079,2:26759933:A>G,NM_194248.2:c.138+651T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,6.037,0.0008,1KG_AFR_AF,OTOF
433080,2:26759947:G>A,NM_194248.2:c.138+637C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.993,0.0031,1KG_SAS_AF,OTOF
433081,2:26759952:G>A,NM_194248.2:c.138+632C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.474,\N,\N,OTOF
433082,2:26759977:G>A,NM_194248.2:c.138+607C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.635,\N,\N,OTOF
433083,2:26760000:C>T,NM_194248.2:c.138+584G>A,\N,\N,2/46,Benign,\N,intron_variant,3.279,0.0265,1KG_AFR_AF,OTOF
433084,2:26760010:C>G,NM_194248.2:c.138+574G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.558,0.0008,1KG_AFR_AF,OTOF
433085,2:26760013:G>A,NM_194248.2:c.138+571C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.269,\N,\N,OTOF
433086,2:26760015:A>C,NM_194248.2:c.138+569T>G,\N,\N,2/46,Benign,\N,intron_variant,0.342,0.549,1KG_AMR_AF,OTOF
433087,2:26760026:C>A,NM_194248.2:c.138+558G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.762,\N,\N,OTOF
433088,2:26760031:T>G,NM_194248.2:c.138+553A>C,\N,\N,2/46,Benign,\N,intron_variant,4.756,0.5447,1KG_AMR_AF,OTOF
433089,2:26760044:A>G,NM_194248.2:c.138+540T>C,\N,\N,2/46,Benign,\N,intron_variant,5.974,0.0153,1KG_SAS_AF,OTOF
433090,2:26760045:C>T,NM_194248.2:c.138+539G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,9.749,\N,\N,OTOF
433091,2:26760072:C>G,NM_194248.2:c.138+512G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,0.516,0.0014,1KG_AMR_AF,OTOF
433092,2:26760089:G>A,NM_194248.2:c.138+495C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.231,0.002,1KG_SAS_AF,OTOF
433093,2:26760153:C>T,NM_194248.2:c.138+431G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.634,\N,\N,OTOF
433094,2:26760154:G>A,NM_194248.2:c.138+430C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.399,\N,\N,OTOF
433095,2:26760177:C>T,NM_194248.2:c.138+407G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.083,\N,\N,OTOF
433096,2:26760178:T>C,NM_194248.2:c.138+406A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.145,\N,\N,OTOF
433097,2:26760181:G>A,NM_194248.2:c.138+403C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,2.374,\N,\N,OTOF
433098,2:26760207:C>T,NM_194248.2:c.138+377G>A,\N,\N,2/46,Benign,\N,intron_variant,1.073,0.0477,1KG_AFR_AF,OTOF
433099,2:26760212:C>G,NM_194248.2:c.138+372G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.334,\N,\N,OTOF
433100,2:26760220:C>T,NM_194248.2:c.138+364G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,5.351,0.0008,1KG_AFR_AF,OTOF
433101,2:26760227:C>T,NM_194248.2:c.138+357G>A,\N,\N,2/46,Benign,\N,intron_variant,3.612,0.0061,1KG_AFR_AF,OTOF
433102,2:26760229:C>T,NM_194248.2:c.138+355G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,2.633,\N,\N,OTOF
433103,2:26760273:T>C,NM_194248.2:c.138+311A>G,\N,\N,2/46,Benign,\N,intron_variant,2.15,1,1KG_EAS_AF|1KG_EUR_AF,OTOF
433104,2:26760280:T>A,NM_194248.2:c.138+304A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.905,\N,\N,OTOF
433105,2:26760286:T>C,NM_194248.2:c.138+298A>G,\N,\N,2/46,Unknown significance,\N,intron_variant,4.27,\N,\N,OTOF
433106,2:26760288:CA>C,NM_194248.2:c.138+295del,\N,\N,2/46,Unknown significance,\N,intron_variant,5.196,0.003,1KG_EAS_AF,OTOF
433107,2:26760315:C>G,NM_194248.2:c.138+269G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,3.474,0.001,1KG_EAS_AF,OTOF
433108,2:26760322:G>A,NM_194248.2:c.138+262C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,0.29,0.002,1KG_EAS_AF,OTOF
433109,2:26760328:G>A,NM_194248.2:c.138+256C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.966,0.001,1KG_EAS_AF,OTOF
433110,2:26760333:C>A,NM_194248.2:c.138+251G>T,\N,\N,2/46,Benign,\N,intron_variant,1.803,0.0121,1KG_AFR_AF,OTOF
433111,2:26760333:C>T,NM_194248.2:c.138+251G>A,\N,\N,2/46,Benign,\N,intron_variant,1.855,0.034,1KG_AFR_AF,OTOF
433112,2:26760364:C>T,NM_194248.2:c.138+220G>A,\N,\N,2/46,Benign,\N,intron_variant,0.13,0.0266,1KG_SAS_AF,OTOF
433113,2:26760365:G>A,NM_194248.2:c.138+219C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.071,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
433114,2:26760367:G>T,NM_194248.2:c.138+217C>A,\N,\N,2/46,Unknown significance,\N,intron_variant,1.356,0.004,1KG_EAS_AF,OTOF
433115,2:26760373:C>A,NM_194248.2:c.138+211G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.289,0.0038,1KG_AFR_AF,OTOF
433116,2:26760387:T>A,NM_194248.2:c.138+197A>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.224,0.0014,1KG_AMR_AF,OTOF
433117,2:26760394:G>A,NM_194248.2:c.138+190C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.447,0.002,1KG_SAS_AF,OTOF
433118,2:26760397:A>T,NM_194248.2:c.138+187T>A,\N,\N,2/46,Unknown significance,\N,intron_variant,0.221,\N,\N,OTOF
433119,2:26760414:C>G,NM_194248.2:c.138+170G>C,\N,\N,2/46,Unknown significance,\N,intron_variant,4.704,0.002,1KG_EAS_AF,OTOF
433120,2:26760424:C>A,NM_194248.2:c.138+160G>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.917,\N,\N,OTOF
433121,2:26760455:G>A,NM_194248.2:c.138+129C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.23,0.002,1KG_SAS_AF,OTOF
433122,2:26760456:A>G,NM_194248.2:c.138+128T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,1.205,0.002,1KG_SAS_AF,OTOF
433123,2:26760470:G>C,NM_194248.2:c.138+114C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.613,0.0014,1KG_AMR_AF,OTOF
433124,2:26760509:C>T,NM_194248.2:c.138+75G>A,\N,\N,2/46,Benign,\N,intron_variant,0.324,0.1042,1KG_EAS_AF,OTOF
433125,2:26760515:A>G,NM_194248.2:c.138+69T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,2.993,\N,\N,OTOF
433126,2:26760520:G>A,NM_194248.2:c.138+64C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,4.855,\N,\N,OTOF
433127,2:26760522:G>A,NM_194248.2:c.138+62C>T,\N,\N,2/46,Benign,\N,intron_variant,3.378,0.0484,1KG_AFR_AF,OTOF
433128,2:26760538:C>T,NM_194248.2:c.138+46G>A,\N,\N,2/46,Unknown significance,\N,intron_variant,4.029,0.00011121,EXAC_NFE_AF,OTOF
433129,2:26760549:A>G,NM_194248.2:c.138+35T>C,\N,\N,2/46,Unknown significance,\N,intron_variant,6.387,0.000111284,EXAC_NFE_AF,OTOF
433130,2:26760552:G>C,NM_194248.2:c.138+32C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,2.691,0.000232342,EVS_AA_AF,OTOF
433131,2:26760556:A>C,NM_194248.2:c.138+28T>G,\N,\N,2/46,Benign,\N,intron_variant,2.45,0.2088,1KG_AFR_AF,OTOF
433132,2:26760558:G>A,NM_194248.2:c.138+26C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,5.502,0.000379075,EXAC_SAS_AF,OTOF
433133,2:26760560:AG>A,NM_194248.2:c.138+23del,\N,\N,2/46,Unknown significance,\N,intron_variant,1.939,\N,\N,OTOF
433134,2:26760561:G>C,NM_194248.2:c.138+23C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,1.303,\N,\N,OTOF
433135,2:26760562:G>A,NM_194248.2:c.138+22C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,1.839,0.00153374,EXAC_EAS_AF,OTOF
433136,2:26760562:G>C,NM_194248.2:c.138+22C>G,\N,\N,2/46,Unknown significance,\N,intron_variant,0.286,0.00282287,EXAC_AFR_AF,OTOF
433137,2:26760567:A>G,NM_194248.2:c.138+17T>C,\N,\N,2/46,Benign,\N,intron_variant,0.71,0.0125,OTO_US_AF,OTOF
433138,2:26760568:G>A,NM_194248.2:c.138+16C>T,\N,\N,2/46,Unknown significance,\N,intron_variant,3.988,0.000352113,EXAC_AFR_AF,OTOF
433139,2:26760579:C>T,NM_194248.2:c.138+5G>A,\N,\N,2/46,Unknown significance,\N,splice_region_variant&intron_variant,13.13,0.000109914,EXAC_NFE_AF,OTOF
433140,2:26760582:A>C,NM_194248.2:c.138+2T>G,\N,\N,2/46,Unknown significance,\N,splice_donor_variant,23.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
433141,2:26760593:G>A,NM_194248.2:c.129C>T,NP_919224.1:p.Asp43=,2/47,\N,Benign,\N,synonymous_variant,9.728,0.235,OTO_JP_AF,OTOF
433142,2:26760596:A>T,NM_194248.2:c.126T>A,NP_919224.1:p.Ala42=,2/47,\N,Unknown significance,\N,synonymous_variant,4.438,0.000252334,EXAC_SAS_AF,OTOF
433143,2:26760597:G>T,NM_001287489.1:c.125C>A,NP_001274418.1:p.Ala42Asp,2/46,\N,Unknown significance,\N,missense_variant,30,\N,\N,OTOF
433144,2:26760622:C>T,NM_194248.2:c.100G>A,NP_919224.1:p.Val34Ile,2/47,\N,Likely benign,\N,missense_variant,21.1,\N,\N,OTOF
433145,2:26760624:C>T,NM_194248.2:c.98G>A,NP_919224.1:p.Arg33Gln,2/47,\N,Benign,\N,missense_variant,32,0.034,1KG_AFR_AF,OTOF
433146,2:26760625:G>T,NM_194248.2:c.97C>A,NP_919224.1:p.Arg33=,2/47,\N,Likely benign,\N,synonymous_variant,14.48,0.00010755,EXAC_NFE_AF,OTOF
433147,2:26760625:G>A,NM_194248.2:c.97C>T,NP_919224.1:p.Arg33Trp,2/47,\N,Unknown significance,\N,missense_variant,35,0.000228102,EVS_AA_AF,OTOF
433148,2:26760628:A>T,NM_194248.2:c.94T>A,NP_919224.1:p.Ser32Thr,2/47,\N,Unknown significance,\N,missense_variant,11.33,\N,\N,OTOF
433149,2:26760630:T>G,NM_194248.2:c.92A>C,NP_919224.1:p.Tyr31Ser,2/47,\N,Unknown significance,\N,missense_variant,21,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
433150,2:26760634:A>G,NM_194248.2:c.88T>C,NP_919224.1:p.Phe30Leu,2/47,\N,Unknown significance,\N,missense_variant,21.3,\N,\N,OTOF
433151,2:26760638:T>C,NM_194248.2:c.84A>G,NP_919224.1:p.Gln28=,2/47,\N,Unknown significance,\N,synonymous_variant,5.433,0.001,1KG_EUR_AF,OTOF
433152,2:26760640:G>A,NM_194248.2:c.82C>T,NP_919224.1:p.Gln28Ter,2/47,\N,Unknown significance,\N,stop_gained&splice_region_variant,36,\N,\N,OTOF
433153,2:26760642:C>T,NM_194248.2:c.80G>A,NP_919224.1:p.Gly27Glu,2/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.5,0.000108413,EXAC_NFE_AF,OTOF
433154,2:26760647:G>A,NM_194248.2:c.80-5C>T,\N,\N,1/46,Unknown significance,\N,splice_region_variant&intron_variant,1.792,0.0015,1KG_AFR_AF,OTOF
433155,2:26760649:G>C,NM_194248.2:c.80-7C>G,\N,\N,1/46,Unknown significance,\N,splice_region_variant&intron_variant,0.658,\N,\N,OTOF
433156,2:26760657:G>A,NM_194248.2:c.80-15C>T,\N,\N,1/46,Benign,\N,intron_variant,7.443,0.005,OTO_JP_AF,OTOF
433157,2:26760660:A>G,NM_194248.2:c.80-18T>C,\N,\N,1/46,Benign,\N,intron_variant,3.811,0.0075,OTO_JP_AF,OTOF
433158,2:26760676:G>C,NM_194248.2:c.80-34C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,4.48,0.000252781,EXAC_SAS_AF,OTOF
433159,2:26760684:C>T,NM_194248.2:c.80-42G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.261,0.000111383,EXAC_NFE_AF,OTOF
433160,2:26760689:G>A,NM_194248.2:c.80-47C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.779,0.000111557,EXAC_NFE_AF,OTOF
433161,2:26760692:G>A,NM_194248.2:c.80-50C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.155,\N,\N,OTOF
433162,2:26760726:G>A,NM_194248.2:c.80-84C>T,\N,\N,1/46,Benign,\N,intron_variant,0.364,0.0061,1KG_AFR_AF,OTOF
433163,2:26760735:G>A,NM_194248.2:c.80-93C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.737,\N,\N,OTOF
433164,2:26760755:C>G,NM_194248.2:c.80-113G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.583,0.002,1KG_SAS_AF,OTOF
433165,2:26760756:A>G,NM_194248.2:c.80-114T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.13,\N,\N,OTOF
433166,2:26760770:C>G,NM_194248.2:c.80-128G>C,\N,\N,1/46,Benign,\N,intron_variant,4.314,0.062,1KG_AFR_AF,OTOF
433167,2:26760795:C>T,NM_194248.2:c.80-153G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,9.757,\N,\N,OTOF
433168,2:26760848:C>T,NM_194248.2:c.80-206G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.015,\N,\N,OTOF
433169,2:26760858:G>A,NM_194248.2:c.80-216C>T,\N,\N,1/46,Benign,\N,intron_variant,7.809,0.005,1KG_EAS_AF|1KG_EUR_AF,OTOF
433170,2:26760862:T>C,NM_194248.2:c.80-220A>G,\N,\N,1/46,Benign,\N,intron_variant,3.138,0.0215,1KG_SAS_AF,OTOF
433171,2:26760870:A>G,NM_194248.2:c.80-228T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.009,0.001,1KG_EAS_AF,OTOF
433172,2:26760872:G>A,NM_194248.2:c.80-230C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.47,\N,\N,OTOF
433173,2:26760877:G>GA,NM_194248.2:c.80-236dup,\N,\N,1/46,Benign,\N,intron_variant,2.015,0.1071,1KG_EAS_AF,OTOF
433174,2:26760880:C>CG,NM_194248.2:c.80-239dup,\N,\N,1/46,Unknown significance,\N,intron_variant,4.981,\N,\N,OTOF
433175,2:26760880:C>G,NM_194248.2:c.80-238G>C,\N,\N,1/46,Benign,\N,intron_variant,0.54,0.1071,1KG_EAS_AF,OTOF
433176,2:26760880:C>T,NM_194248.2:c.80-238G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.955,0.0045,1KG_AFR_AF,OTOF
433177,2:26760886:T>G,NM_194248.2:c.80-244A>C,\N,\N,1/46,Benign,\N,intron_variant,4.279,0.1071,1KG_EAS_AF,OTOF
433178,2:26760918:G>A,NM_194248.2:c.80-276C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.789,0.0014,1KG_AMR_AF,OTOF
433179,2:26760922:C>T,NM_194248.2:c.80-280G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.873,0.002,1KG_EUR_AF,OTOF
433180,2:26760923:C>T,NM_194248.2:c.80-281G>A,\N,\N,1/46,Benign,\N,intron_variant,0.571,0.5346,1KG_AMR_AF,OTOF
433181,2:26760927:GAA>G,NM_194248.2:c.80-287_80-286del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433182,2:26760958:G>T,NM_194248.2:c.80-316C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.585,0.0008,1KG_AFR_AF,OTOF
433183,2:26761019:G>A,NM_194248.2:c.80-377C>T,\N,\N,1/46,Benign,\N,intron_variant,0.613,0.211,1KG_AFR_AF,OTOF
433184,2:26761025:T>C,NM_194248.2:c.80-383A>G,\N,\N,1/46,Benign,\N,intron_variant,4.219,0.0136,1KG_AFR_AF,OTOF
433185,2:26761044:C>T,NM_194248.2:c.80-402G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.33,0.001,1KG_EAS_AF,OTOF
433186,2:26761052:G>A,NM_194248.2:c.80-410C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.949,\N,\N,OTOF
433187,2:26761058:G>A,NM_194248.2:c.80-416C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.88,0.0023,1KG_AFR_AF,OTOF
433188,2:26761059:T>C,NM_194248.2:c.80-417A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.505,0.001,1KG_EUR_AF,OTOF
433189,2:26761067:G>C,NM_194248.2:c.80-425C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.238,0.0014,1KG_AMR_AF,OTOF
433190,2:26761072:C>A,NM_194248.2:c.80-430G>T,\N,\N,1/46,Benign,\N,intron_variant,3.962,0.0417,1KG_EUR_AF,OTOF
433191,2:26761073:C>T,NM_194248.2:c.80-431G>A,\N,\N,1/46,Benign,\N,intron_variant,1.088,0.0069,1KG_EAS_AF,OTOF
433192,2:26761089:A>C,NM_194248.2:c.80-447T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.834,0.0008,1KG_AFR_AF,OTOF
433193,2:26761096:C>A,NM_194248.2:c.80-454G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.406,\N,\N,OTOF
433194,2:26761105:G>A,NM_194248.2:c.80-463C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.415,0.001,1KG_EAS_AF,OTOF
433195,2:26761148:C>A,NM_194248.2:c.80-506G>T,\N,\N,1/46,Benign,\N,intron_variant,3.788,0.0454,1KG_AFR_AF,OTOF
433196,2:26761164:C>T,NM_194248.2:c.80-522G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.301,\N,\N,OTOF
433197,2:26761165:A>G,NM_194248.2:c.80-523T>C,\N,\N,1/46,Benign,\N,intron_variant,0.211,0.8671,1KG_EAS_AF,OTOF
433198,2:26761175:C>A,NM_194248.2:c.80-533G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.016,0.001,1KG_EAS_AF,OTOF
433199,2:26761194:C>T,NM_194248.2:c.80-552G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.725,0.001,1KG_EUR_AF,OTOF
433200,2:26761218:C>T,NM_194248.2:c.80-576G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.98,\N,\N,OTOF
433201,2:26761219:G>A,NM_194248.2:c.80-577C>T,\N,\N,1/46,Benign,\N,intron_variant,0.967,0.5072,1KG_AMR_AF,OTOF
433202,2:26761243:A>G,NM_194248.2:c.80-601T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.604,0.002,1KG_SAS_AF,OTOF
433203,2:26761248:A>G,NM_194248.2:c.80-606T>C,\N,\N,1/46,Benign,\N,intron_variant,0.699,0.9742,1KG_EAS_AF,OTOF
433204,2:26761266:C>T,NM_194248.2:c.80-624G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.621,0.0014,1KG_AMR_AF,OTOF
433205,2:26761269:G>A,NM_194248.2:c.80-627C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.687,\N,\N,OTOF
433206,2:26761353:C>G,NM_194248.2:c.80-711G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.339,0.0008,1KG_AFR_AF,OTOF
433207,2:26761361:C>T,NM_194248.2:c.80-719G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.392,\N,\N,OTOF
433208,2:26761367:C>T,NM_194248.2:c.80-725G>A,\N,\N,1/46,Benign,\N,intron_variant,2.083,0.5086,1KG_AMR_AF,OTOF
433209,2:26761386:G>A,NM_194248.2:c.80-744C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.967,\N,\N,OTOF
433210,2:26761400:C>T,NM_194248.2:c.80-758G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.867,0.0008,1KG_AFR_AF,OTOF
433211,2:26761405:C>T,NM_194248.2:c.80-763G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.475,0.002,1KG_EAS_AF,OTOF
433212,2:26761423:G>T,NM_194248.2:c.80-781C>A,\N,\N,1/46,Benign,\N,intron_variant,0.556,0.0153,1KG_SAS_AF,OTOF
433213,2:26761438:T>C,NM_194248.2:c.80-796A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.362,0.0008,1KG_AFR_AF,OTOF
433214,2:26761490:T>A,NM_194248.2:c.80-848A>T,\N,\N,1/46,Benign,\N,intron_variant,1.597,0.9742,1KG_EAS_AF,OTOF
433215,2:26761491:C>T,NM_194248.2:c.80-849G>A,\N,\N,1/46,Benign,\N,intron_variant,1.81,0.0295,1KG_AFR_AF,OTOF
433216,2:26761492:G>A,NM_194248.2:c.80-850C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.942,\N,\N,OTOF
433217,2:26761495:T>C,NM_194248.2:c.80-853A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.641,0.0015,1KG_AFR_AF,OTOF
433218,2:26761536:G>A,NM_194248.2:c.80-894C>T,\N,\N,1/46,Benign,\N,intron_variant,1.098,0.008,1KG_EUR_AF,OTOF
433219,2:26761539:G>C,NM_194248.2:c.80-897C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.325,\N,\N,OTOF
433220,2:26761562:T>C,NM_194248.2:c.80-920A>G,\N,\N,1/46,Benign,\N,intron_variant,2.531,0.0136,1KG_AFR_AF,OTOF
433221,2:26761575:C>T,NM_194248.2:c.80-933G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.312,0.0008,1KG_AFR_AF,OTOF
433222,2:26761576:G>A,NM_194248.2:c.80-934C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.948,0.0008,1KG_AFR_AF,OTOF
433223,2:26761592:C>A,NM_194248.2:c.80-950G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.953,0.0014,1KG_AMR_AF,OTOF
433224,2:26761616:C>A,NM_194248.2:c.80-974G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.843,0.001,1KG_EAS_AF,OTOF
433225,2:26761629:G>A,NM_194248.2:c.80-987C>T,\N,\N,1/46,Benign,\N,intron_variant,12.25,0.0129,1KG_EUR_AF,OTOF
433226,2:26761630:AT>A,NM_194248.2:c.80-989del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433227,2:26761666:C>G,NM_194248.2:c.80-1024G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.38,\N,\N,OTOF
433228,2:26761684:A>AT,NM_194248.2:c.80-1043dup,\N,\N,1/46,Unknown significance,\N,intron_variant,0.083,\N,\N,OTOF
433229,2:26761684:A>ATT,NM_194248.2:c.80-1044_80-1043dup,\N,\N,1/46,Benign,\N,intron_variant,0.076,0.8085,1KG_EAS_AF,OTOF
433230,2:26761684:A>ATTT,NM_194248.2:c.80-1045_80-1043dup,\N,\N,1/46,Unknown significance,\N,intron_variant,0.07,\N,\N,OTOF
433231,2:26761701:G>T,NM_194248.2:c.80-1059C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.432,\N,\N,OTOF
433232,2:26761717:C>G,NM_194248.2:c.80-1075G>C,\N,\N,1/46,Benign,\N,intron_variant,0.348,0.087,1KG_AFR_AF,OTOF
433233,2:26761726:G>C,NM_194248.2:c.80-1084C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.6,\N,\N,OTOF
433234,2:26761738:G>A,NM_194248.2:c.80-1096C>T,\N,\N,1/46,Benign,\N,intron_variant,1.568,0.0113,1KG_AFR_AF,OTOF
433235,2:26761752:G>T,NM_194248.2:c.80-1110C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.725,0.0015,1KG_AFR_AF,OTOF
433236,2:26761767:C>T,NM_194248.2:c.80-1125G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.173,0.0015,1KG_AFR_AF,OTOF
433237,2:26761817:G>T,NM_194248.2:c.80-1175C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.57,0.001,1KG_EUR_AF,OTOF
433238,2:26761827:G>A,NM_194248.2:c.80-1185C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.042,\N,\N,OTOF
433239,2:26761841:C>T,NM_194248.2:c.80-1199G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.621,0.0029,1KG_AMR_AF,OTOF
433240,2:26761849:T>A,NM_194248.2:c.80-1207A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.715,\N,\N,OTOF
433241,2:26761881:A>G,NM_194248.2:c.80-1239T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.006,0.0038,1KG_AFR_AF,OTOF
433242,2:26761887:G>T,NM_194248.2:c.80-1245C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.188,\N,\N,OTOF
433243,2:26761897:T>TC,NM_194248.2:c.80-1256dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433244,2:26761901:G>C,NM_194248.2:c.80-1259C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.19,0.001,1KG_EUR_AF,OTOF
433245,2:26762001:T>C,NM_194248.2:c.80-1359A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.254,\N,\N,OTOF
433246,2:26762023:C>T,NM_194248.2:c.80-1381G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.475,0.0008,1KG_AFR_AF,OTOF
433247,2:26762029:A>G,NM_194248.2:c.80-1387T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.309,0.001,1KG_EUR_AF,OTOF
433248,2:26762046:A>G,NM_194248.2:c.80-1404T>C,\N,\N,1/46,Benign,\N,intron_variant,7.61,0.5432,1KG_AMR_AF,OTOF
433249,2:26762048:A>G,NM_194248.2:c.80-1406T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,8.043,\N,\N,OTOF
433250,2:26762062:A>G,NM_194248.2:c.80-1420T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.141,0.001,1KG_EUR_AF,OTOF
433251,2:26762089:A>G,NM_194248.2:c.80-1447T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.846,\N,\N,OTOF
433252,2:26762100:G>T,NM_194248.2:c.80-1458C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.512,\N,\N,OTOF
433253,2:26762212:G>A,NM_194248.2:c.80-1570C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.76,0.0023,1KG_AFR_AF,OTOF
433254,2:26762232:T>C,NM_194248.2:c.80-1590A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.39,\N,\N,OTOF
433255,2:26762243:A>T,NM_194248.2:c.80-1601T>A,\N,\N,1/46,Benign,\N,intron_variant,0.239,0.1071,1KG_EAS_AF,OTOF
433256,2:26762260:C>T,NM_194248.2:c.80-1618G>A,\N,\N,1/46,Benign,\N,intron_variant,2.075,0.9742,1KG_EAS_AF,OTOF
433257,2:26762265:T>C,NM_194248.2:c.80-1623A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.204,\N,\N,OTOF
433258,2:26762266:G>A,NM_194248.2:c.80-1624C>T,\N,\N,1/46,Benign,\N,intron_variant,2.359,0.1846,1KG_AFR_AF,OTOF
433259,2:26762282:T>C,NM_194248.2:c.80-1640A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.162,0.0015,1KG_AFR_AF,OTOF
433260,2:26762287:A>C,NM_194248.2:c.80-1645T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.824,\N,\N,OTOF
433261,2:26762318:AC>A,NM_194248.2:c.80-1677del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433262,2:26762321:C>A,NM_194248.2:c.80-1679G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.57,\N,\N,OTOF
433263,2:26762323:C>A,NM_194248.2:c.80-1681G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.477,\N,\N,OTOF
433264,2:26762324:CT>C,NM_194248.2:c.80-1683del,\N,\N,1/46,Unknown significance,\N,intron_variant,0.586,0.0015,1KG_AFR_AF,OTOF
433265,2:26762330:G>A,NM_194248.2:c.80-1688C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.075,\N,\N,OTOF
433266,2:26762356:C>A,NM_194248.2:c.80-1714G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.595,0.0045,1KG_AFR_AF,OTOF
433267,2:26762370:G>A,NM_194248.2:c.80-1728C>T,\N,\N,1/46,Benign,\N,intron_variant,0.2,0.0439,1KG_AFR_AF,OTOF
433268,2:26762374:C>T,NM_194248.2:c.80-1732G>A,\N,\N,1/46,Benign,\N,intron_variant,1.743,0.005,1KG_EUR_AF,OTOF
433269,2:26762375:G>A,NM_194248.2:c.80-1733C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.615,0.003,1KG_AFR_AF,OTOF
433270,2:26762378:C>T,NM_194248.2:c.80-1736G>A,\N,\N,1/46,Benign,\N,intron_variant,0.748,0.0497,1KG_EUR_AF,OTOF
433271,2:26762379:G>T,NM_194248.2:c.80-1737C>A,\N,\N,1/46,Benign,\N,intron_variant,0.047,0.0204,1KG_SAS_AF,OTOF
433272,2:26762393:C>T,NM_194248.2:c.80-1751G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.922,\N,\N,OTOF
433273,2:26762394:G>C,NM_194248.2:c.80-1752C>G,\N,\N,1/46,Benign,\N,intron_variant,0.048,0.5403,1KG_AMR_AF,OTOF
433274,2:26762395:G>A,NM_194248.2:c.80-1753C>T,\N,\N,1/46,Benign,\N,intron_variant,0.634,0.0068,1KG_AFR_AF,OTOF
433275,2:26762401:C>T,NM_194248.2:c.80-1759G>A,\N,\N,1/46,Benign,\N,intron_variant,0.512,0.0424,1KG_AFR_AF,OTOF
433276,2:26762433:G>A,NM_194248.2:c.80-1791C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.185,\N,\N,OTOF
433277,2:26762463:T>C,NM_194248.2:c.80-1821A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.167,\N,\N,OTOF
433278,2:26762473:C>T,NM_194248.2:c.80-1831G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.565,\N,\N,OTOF
433279,2:26762474:A>G,NM_194248.2:c.80-1832T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.205,\N,\N,OTOF
433280,2:26762485:C>T,NM_194248.2:c.80-1843G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.817,0.0014,1KG_AMR_AF,OTOF
433281,2:26762504:G>A,NM_194248.2:c.80-1862C>T,\N,\N,1/46,Benign,\N,intron_variant,0.948,0.0484,1KG_AFR_AF,OTOF
433282,2:26762546:T>C,NM_194248.2:c.80-1904A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.437,0.0014,1KG_AMR_AF,OTOF
433283,2:26762547:G>T,NM_194248.2:c.80-1905C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.657,0.001,1KG_EUR_AF,OTOF
433284,2:26762559:C>T,NM_194248.2:c.80-1917G>A,\N,\N,1/46,Benign,\N,intron_variant,0.064,0.1071,1KG_EAS_AF,OTOF
433285,2:26762588:T>G,NM_194248.2:c.80-1946A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.139,\N,\N,OTOF
433286,2:26762595:C>G,NM_194248.2:c.80-1953G>C,\N,\N,1/46,Benign,\N,intron_variant,1.297,0.0129,1KG_EUR_AF,OTOF
433287,2:26762641:T>C,NM_194248.2:c.80-1999A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.912,0.001,1KG_EAS_AF,OTOF
433288,2:26762646:G>T,NM_194248.2:c.80-2004C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.37,0.0008,1KG_AFR_AF,OTOF
433289,2:26762648:G>T,NM_194248.2:c.80-2006C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.696,0.002,1KG_EUR_AF,OTOF
433290,2:26762675:C>G,NM_194248.2:c.80-2033G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.092,\N,\N,OTOF
433291,2:26762688:T>C,NM_194248.2:c.80-2046A>G,\N,\N,1/46,Benign,\N,intron_variant,0.291,0.9742,1KG_EAS_AF,OTOF
433292,2:26762724:C>A,NM_194248.2:c.80-2082G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.131,\N,\N,OTOF
433293,2:26762777:T>C,NM_194248.2:c.80-2135A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.77,\N,\N,OTOF
433294,2:26762780:T>A,NM_194248.2:c.80-2138A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.612,0.001,1KG_EAS_AF,OTOF
433295,2:26762789:T>C,NM_194248.2:c.80-2147A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.193,0.0008,1KG_AFR_AF,OTOF
433296,2:26762838:G>A,NM_194248.2:c.80-2196C>T,\N,\N,1/46,Benign,\N,intron_variant,5.058,0.1657,1KG_AFR_AF,OTOF
433297,2:26762856:C>T,NM_194248.2:c.80-2214G>A,\N,\N,1/46,Benign,\N,intron_variant,0.047,0.1071,1KG_EAS_AF,OTOF
433298,2:26762857:A>G,NM_194248.2:c.80-2215T>C,\N,\N,1/46,Benign,\N,intron_variant,0.149,1,1KG_EAS_AF|1KG_EUR_AF,OTOF
433299,2:26762883:A>C,NM_194248.2:c.80-2241T>G,\N,\N,1/46,Benign,\N,intron_variant,0.286,1,1KG_EAS_AF|1KG_EUR_AF,OTOF
433300,2:26762902:A>G,NM_194248.2:c.80-2260T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.932,0.001,1KG_EAS_AF,OTOF
433301,2:26762903:A>G,NM_194248.2:c.80-2261T>C,\N,\N,1/46,Benign,\N,intron_variant,0.029,0.5375,1KG_AMR_AF,OTOF
433302,2:26762915:C>G,NM_194248.2:c.80-2273G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.036,0.0015,1KG_AFR_AF,OTOF
433303,2:26762922:C>A,NM_194248.2:c.80-2280G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.854,\N,\N,OTOF
433304,2:26762923:T>G,NM_194248.2:c.80-2281A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.047,\N,\N,OTOF
433305,2:26762927:A>G,NM_194248.2:c.80-2285T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.041,0.0041,1KG_SAS_AF,OTOF
433306,2:26762999:G>A,NM_194248.2:c.80-2357C>T,\N,\N,1/46,Benign,\N,intron_variant,0.193,0.5389,1KG_AMR_AF,OTOF
433307,2:26763023:A>G,NM_194248.2:c.80-2381T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.564,0.001,1KG_SAS_AF,OTOF
433308,2:26763036:A>G,NM_194248.2:c.80-2394T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.841,0.0029,1KG_AMR_AF,OTOF
433309,2:26763051:C>T,NM_194248.2:c.80-2409G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.775,\N,\N,OTOF
433310,2:26763052:G>A,NM_194248.2:c.80-2410C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.389,0.001,1KG_SAS_AF,OTOF
433311,2:26763054:C>T,NM_194248.2:c.80-2412G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.349,\N,\N,OTOF
433312,2:26763089:C>T,NM_194248.2:c.80-2447G>A,\N,\N,1/46,Benign,\N,intron_variant,0.521,0.0086,1KG_AMR_AF,OTOF
433313,2:26763131:A>G,NM_194248.2:c.80-2489T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.804,\N,\N,OTOF
433314,2:26763146:G>A,NM_194248.2:c.80-2504C>T,\N,\N,1/46,Benign,\N,intron_variant,4.144,0.7212,1KG_EAS_AF,OTOF
433315,2:26763169:C>A,NM_194248.2:c.80-2527G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,10.68,0.0008,1KG_AFR_AF,OTOF
433316,2:26763184:G>T,NM_194248.2:c.80-2542C>A,\N,\N,1/46,Benign,\N,intron_variant,4.121,0.0068,1KG_AFR_AF,OTOF
433317,2:26763258:C>T,NM_194248.2:c.80-2616G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.834,\N,\N,OTOF
433318,2:26763261:G>A,NM_194248.2:c.80-2619C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.281,0.0015,1KG_AFR_AF,OTOF
433319,2:26763265:C>T,NM_194248.2:c.80-2623G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.12,\N,\N,OTOF
433320,2:26763268:G>A,NM_194248.2:c.80-2626C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.566,0.002,1KG_EAS_AF,OTOF
433321,2:26763278:G>A,NM_194248.2:c.80-2636C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.546,0.001,1KG_SAS_AF,OTOF
433322,2:26763281:G>T,NM_194248.2:c.80-2639C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.543,0.0015,1KG_AFR_AF,OTOF
433323,2:26763287:C>T,NM_194248.2:c.80-2645G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.009,0.001,1KG_EAS_AF|1KG_SAS_AF,OTOF
433324,2:26763297:A>T,NM_194248.2:c.80-2655T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.793,0.0008,1KG_AFR_AF,OTOF
433325,2:26763308:C>CA,NM_194248.2:c.80-2667dup,\N,\N,1/46,Benign,\N,intron_variant,5.103,0.0091,1KG_AFR_AF,OTOF
433326,2:26763324:C>A,NM_194248.2:c.80-2682G>T,\N,\N,1/46,Benign,\N,intron_variant,6.647,0.1071,1KG_EAS_AF,OTOF
433327,2:26763327:C>T,NM_194248.2:c.80-2685G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.779,\N,\N,OTOF
433328,2:26763344:G>A,NM_194248.2:c.80-2702C>T,\N,\N,1/46,Benign,\N,intron_variant,2.205,0.0274,1KG_AMR_AF,OTOF
433329,2:26763346:G>C,NM_194248.2:c.80-2704C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.969,0.0008,1KG_AFR_AF,OTOF
433330,2:26763392:G>A,NM_194248.2:c.80-2750C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.251,0.0008,1KG_AFR_AF,OTOF
433331,2:26763407:C>T,NM_194248.2:c.80-2765G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.441,0.0008,1KG_AFR_AF,OTOF
433332,2:26763518:C>T,NM_194248.2:c.80-2876G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.872,\N,\N,OTOF
433333,2:26763519:G>A,NM_194248.2:c.80-2877C>T,\N,\N,1/46,Benign,\N,intron_variant,6.023,0.0189,1KG_AFR_AF,OTOF
433334,2:26763528:G>A,NM_194248.2:c.80-2886C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.076,0.0008,1KG_AFR_AF,OTOF
433335,2:26763535:T>C,NM_194248.2:c.80-2893A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.936,\N,\N,OTOF
433336,2:26763610:C>T,NM_194248.2:c.80-2968G>A,\N,\N,1/46,Benign,\N,intron_variant,3.834,0.0424,1KG_AFR_AF,OTOF
433337,2:26763611:G>A,NM_194248.2:c.80-2969C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.672,0.001,1KG_EUR_AF,OTOF
433338,2:26763618:G>A,NM_194248.2:c.80-2976C>T,\N,\N,1/46,Benign,\N,intron_variant,0.519,0.0274,1KG_AMR_AF,OTOF
433339,2:26763654:A>G,NM_194248.2:c.80-3012T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.183,0.001,1KG_EUR_AF,OTOF
433340,2:26763678:C>A,NM_194248.2:c.80-3036G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.909,\N,\N,OTOF
433341,2:26763683:C>A,NM_194248.2:c.80-3041G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.739,0.0023,1KG_AFR_AF,OTOF
433342,2:26763683:C>T,NM_194248.2:c.80-3041G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.801,\N,\N,OTOF
433343,2:26763735:A>G,NM_194248.2:c.80-3093T>C,\N,\N,1/46,Benign,\N,intron_variant,5.09,0.0068,1KG_AFR_AF,OTOF
433344,2:26763753:C>CA,NM_194248.2:c.80-3112dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433345,2:26763775:C>G,NM_194248.2:c.80-3133G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.845,0.0008,1KG_AFR_AF,OTOF
433346,2:26763779:A>G,NM_194248.2:c.80-3137T>C,\N,\N,1/46,Benign,\N,intron_variant,1.734,0.0121,1KG_AFR_AF,OTOF
433347,2:26763780:C>A,NM_194248.2:c.80-3138G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.424,0.0008,1KG_AFR_AF,OTOF
433348,2:26763783:CA>GC,NM_194248.2:c.80-3142_80-3141delinsGC,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433349,2:26763791:C>CG,NM_194248.2:c.80-3150dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433350,2:26763792:G>A,NM_194248.2:c.80-3150C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.237,0.001,1KG_EAS_AF,OTOF
433351,2:26763799:C>A,NM_194248.2:c.80-3157G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.397,\N,\N,OTOF
433352,2:26763803:G>A,NM_194248.2:c.80-3161C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.984,\N,\N,OTOF
433353,2:26763847:C>T,NM_194248.2:c.80-3205G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.475,\N,\N,OTOF
433354,2:26763848:G>A,NM_194248.2:c.80-3206C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.847,0.0014,1KG_AMR_AF,OTOF
433355,2:26763858:C>T,NM_194248.2:c.80-3216G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.469,0.001,1KG_SAS_AF,OTOF
433356,2:26763878:A>G,NM_194248.2:c.80-3236T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.965,\N,\N,OTOF
433357,2:26763901:G>A,NM_194248.2:c.80-3259C>T,\N,\N,1/46,Benign,\N,intron_variant,5.534,0.7222,1KG_EAS_AF,OTOF
433358,2:26763920:C>T,NM_194248.2:c.80-3278G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,9,0.003,1KG_EAS_AF,OTOF
433359,2:26763933:C>T,NM_194248.2:c.80-3291G>A,\N,\N,1/46,Benign,\N,intron_variant,8.944,0.0149,1KG_EUR_AF,OTOF
433360,2:26763935:A>G,NM_194248.2:c.80-3293T>C,\N,\N,1/46,Benign,\N,intron_variant,9.963,0.0144,1KG_AFR_AF,OTOF
433361,2:26763939:G>A,NM_194248.2:c.80-3297C>T,\N,\N,1/46,Benign,\N,intron_variant,8.243,0.8294,1KG_EAS_AF,OTOF
433362,2:26763940:C>T,NM_194248.2:c.80-3298G>A,\N,\N,1/46,Benign,\N,intron_variant,9.311,0.0061,1KG_AFR_AF,OTOF
433363,2:26763945:G>T,NM_194248.2:c.80-3303C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.522,\N,\N,OTOF
433364,2:26763971:C>T,NM_194248.2:c.80-3329G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.579,0.001,1KG_EAS_AF,OTOF
433365,2:26763972:G>A,NM_194248.2:c.80-3330C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.433,\N,\N,OTOF
433366,2:26763988:C>T,NM_194248.2:c.80-3346G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.698,\N,\N,OTOF
433367,2:26764023:C>T,NM_194248.2:c.80-3381G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.049,\N,\N,OTOF
433368,2:26764024:G>A,NM_194248.2:c.80-3382C>T,\N,\N,1/46,Benign,\N,intron_variant,0.006,0.0113,1KG_AFR_AF,OTOF
433369,2:26764027:G>A,NM_194248.2:c.80-3385C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.383,0.0045,1KG_AFR_AF,OTOF
433370,2:26764081:C>G,NM_194248.2:c.80-3439G>C,\N,\N,1/46,Benign,\N,intron_variant,0.777,0.0113,1KG_AFR_AF,OTOF
433371,2:26764099:A>C,NM_194248.2:c.80-3457T>G,\N,\N,1/46,Benign,\N,intron_variant,1.185,0.7222,1KG_EAS_AF,OTOF
433372,2:26764138:G>A,NM_194248.2:c.80-3496C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.247,0.0029,1KG_AMR_AF,OTOF
433373,2:26764142:G>A,NM_194248.2:c.80-3500C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.144,0.001,1KG_EAS_AF,OTOF
433374,2:26764157:ACG>A,NM_194248.2:c.80-3517_80-3516del,\N,\N,1/46,Unknown significance,\N,intron_variant,3.969,\N,\N,OTOF
433375,2:26764158:C>T,NM_194248.2:c.80-3516G>A,\N,\N,1/46,Benign,\N,intron_variant,1.3,0.7222,1KG_EAS_AF,OTOF
433376,2:26764158:CGT>TGA,NM_194248.2:c.80-3518_80-3516delinsTCA,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433377,2:26764160:T>A,NM_194248.2:c.80-3518A>T,\N,\N,1/46,Benign,\N,intron_variant,7.127,0.7202,1KG_EAS_AF,OTOF
433378,2:26764175:C>A,NM_194248.2:c.80-3533G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.704,0.0008,1KG_AFR_AF,OTOF
433379,2:26764187:A>G,NM_194248.2:c.80-3545T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.267,0.001,1KG_SAS_AF,OTOF
433380,2:26764249:T>C,NM_194248.2:c.80-3607A>G,\N,\N,1/46,Benign,\N,intron_variant,10.58,0.5072,1KG_AMR_AF,OTOF
433381,2:26764255:A>C,NM_194248.2:c.80-3613T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,8.495,\N,\N,OTOF
433382,2:26764264:A>G,NM_194248.2:c.80-3622T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.783,\N,\N,OTOF
433383,2:26764272:G>A,NM_194248.2:c.80-3630C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,12.32,\N,\N,OTOF
433384,2:26764293:A>G,NM_194248.2:c.80-3651T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.641,0.0014,1KG_AMR_AF,OTOF
433385,2:26764304:A>G,NM_194248.2:c.80-3662T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.071,\N,\N,OTOF
433386,2:26764324:A>G,NM_194248.2:c.80-3682T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,11.13,\N,\N,OTOF
433387,2:26764340:C>G,NM_194248.2:c.80-3698G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.014,\N,\N,OTOF
433388,2:26764363:GAAAAC>G,NM_194248.2:c.80-3726_80-3722del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433389,2:26764442:G>T,NM_194248.2:c.80-3800C>A,\N,\N,1/46,Benign,\N,intron_variant,1.726,0.0288,1KG_EUR_AF,OTOF
433390,2:26764444:T>C,NM_194248.2:c.80-3802A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.375,\N,\N,OTOF
433391,2:26764448:G>A,NM_194248.2:c.80-3806C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.002,0.0008,1KG_AFR_AF,OTOF
433392,2:26764465:AG>A,NM_194248.2:c.80-3824del,\N,\N,1/46,Benign,\N,intron_variant,2.679,0.0076,1KG_AFR_AF,OTOF
433393,2:26764518:C>T,NM_194248.2:c.80-3876G>A,\N,\N,1/46,Benign,\N,intron_variant,7.665,0.0424,1KG_AFR_AF,OTOF
433394,2:26764566:C>T,NM_194248.2:c.80-3924G>A,\N,\N,1/46,Benign,\N,intron_variant,1.773,0.0068,1KG_AFR_AF,OTOF
433395,2:26764619:A>G,NM_194248.2:c.80-3977T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,14.57,\N,\N,OTOF
433396,2:26764701:G>T,NM_194248.2:c.80-4059C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.527,0.001,1KG_EUR_AF,OTOF
433397,2:26764721:A>G,NM_194248.2:c.80-4079T>C,\N,\N,1/46,Benign,\N,intron_variant,3.519,0.0089,1KG_EUR_AF,OTOF
433398,2:26764741:G>A,NM_194248.2:c.80-4099C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.666,0.001,1KG_SAS_AF,OTOF
433399,2:26764758:A>C,NM_194248.2:c.80-4116T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.611,0.0008,1KG_AFR_AF,OTOF
433400,2:26764763:C>G,NM_194248.2:c.80-4121G>C,\N,\N,1/46,Benign,\N,intron_variant,6.047,0.0113,1KG_AFR_AF,OTOF
433401,2:26764838:T>A,NM_194248.2:c.80-4196A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,15.98,0.0008,1KG_AFR_AF,OTOF
433402,2:26764855:A>G,NM_194248.2:c.80-4213T>C,\N,\N,1/46,Benign,\N,intron_variant,11.78,0.8284,1KG_EAS_AF,OTOF
433403,2:26764867:C>CT,NM_194248.2:c.80-4226dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433404,2:26764869:T>TA,NM_194248.2:c.80-4228dup,\N,\N,1/46,Benign,\N,intron_variant,2.431,0.0658,1KG_AFR_AF,OTOF
433405,2:26764878:A>C,NM_194248.2:c.80-4236T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.882,\N,\N,OTOF
433406,2:26764915:T>C,NM_194248.2:c.80-4273A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.86,0.001,1KG_EAS_AF,OTOF
433407,2:26764920:A>G,NM_194248.2:c.80-4278T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.023,0.001,1KG_SAS_AF,OTOF
433408,2:26764921:T>C,NM_194248.2:c.80-4279A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.33,0.001,1KG_EAS_AF,OTOF
433409,2:26764934:A>C,NM_194248.2:c.80-4292T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.02,0.003,1KG_EAS_AF,OTOF
433410,2:26764961:C>A,NM_194248.2:c.80-4319G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.341,0.0015,1KG_AFR_AF,OTOF
433411,2:26764961:C>T,NM_194248.2:c.80-4319G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.292,\N,\N,OTOF
433412,2:26764962:G>A,NM_194248.2:c.80-4320C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.084,0.0008,1KG_AFR_AF,OTOF
433413,2:26765056:C>A,NM_194248.2:c.80-4414G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,15.55,\N,\N,OTOF
433414,2:26765058:C>T,NM_194248.2:c.80-4416G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,16.47,0.001,1KG_EAS_AF,OTOF
433415,2:26765112:G>T,NM_194248.2:c.80-4470C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.696,0.0008,1KG_AFR_AF,OTOF
433416,2:26765132:C>T,NM_194248.2:c.80-4490G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.213,0.001,1KG_EAS_AF,OTOF
433417,2:26765134:A>T,NM_194248.2:c.80-4492T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.713,0.001,1KG_SAS_AF,OTOF
433418,2:26765136:G>A,NM_194248.2:c.80-4494C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.932,0.0008,1KG_AFR_AF,OTOF
433419,2:26765148:A>C,NM_194248.2:c.80-4506T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,5.013,\N,\N,OTOF
433420,2:26765178:C>T,NM_194248.2:c.80-4536G>A,\N,\N,1/46,Benign,\N,intron_variant,5.1,0.0182,1KG_AFR_AF,OTOF
433421,2:26765193:A>T,NM_194248.2:c.80-4551T>A,\N,\N,1/46,Benign,\N,intron_variant,4.806,0.0182,1KG_AFR_AF,OTOF
433422,2:26765207:G>T,NM_194248.2:c.80-4565C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,13.81,0.0015,1KG_AFR_AF,OTOF
433423,2:26765231:C>T,NM_194248.2:c.80-4589G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.363,\N,\N,OTOF
433424,2:26765232:G>A,NM_194248.2:c.80-4590C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.89,\N,\N,OTOF
433425,2:26765256:C>T,NM_194248.2:c.80-4614G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.263,\N,\N,OTOF
433426,2:26765257:G>T,NM_194248.2:c.80-4615C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.095,\N,\N,OTOF
433427,2:26765266:T>A,NM_194248.2:c.80-4624A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.635,\N,\N,OTOF
433428,2:26765272:G>T,NM_194248.2:c.80-4630C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.126,0.0008,1KG_AFR_AF,OTOF
433429,2:26765302:C>T,NM_194248.2:c.80-4660G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.059,0.002,1KG_EAS_AF,OTOF
433430,2:26765310:C>T,NM_194248.2:c.80-4668G>A,\N,\N,1/46,Benign,\N,intron_variant,3.471,1,1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
433431,2:26765369:AG>A,NM_194248.2:c.80-4728del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433432,2:26765389:T>C,NM_194248.2:c.80-4747A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.884,\N,\N,OTOF
433433,2:26765418:C>T,NM_194248.2:c.80-4776G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.392,\N,\N,OTOF
433434,2:26765421:G>A,NM_194248.2:c.80-4779C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.968,\N,\N,OTOF
433435,2:26765428:C>T,NM_194248.2:c.80-4786G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.898,0.001,1KG_EAS_AF,OTOF
433436,2:26765438:C>T,NM_194248.2:c.80-4796G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.427,0.002,1KG_EUR_AF,OTOF
433437,2:26765462:G>C,NM_194248.2:c.80-4820C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.452,\N,\N,OTOF
433438,2:26765473:G>A,NM_194248.2:c.80-4831C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.396,\N,\N,OTOF
433439,2:26765486:G>C,NM_194248.2:c.80-4844C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.374,\N,\N,OTOF
433440,2:26765530:C>T,NM_194248.2:c.80-4888G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.549,\N,\N,OTOF
433441,2:26765531:G>A,NM_194248.2:c.80-4889C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.184,\N,\N,OTOF
433442,2:26765541:G>C,NM_194248.2:c.80-4899C>G,\N,\N,1/46,Benign,\N,intron_variant,0.61,0.0424,1KG_AFR_AF,OTOF
433443,2:26765555:A>C,NM_194248.2:c.80-4913T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.3,\N,\N,OTOF
433444,2:26765579:G>A,NM_194248.2:c.80-4937C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.508,0.0023,1KG_AFR_AF,OTOF
433445,2:26765668:G>A,NM_194248.2:c.80-5026C>T,\N,\N,1/46,Benign,\N,intron_variant,5.099,0.0461,1KG_AFR_AF,OTOF
433446,2:26765696:G>A,NM_194248.2:c.80-5054C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.795,0.0014,1KG_AMR_AF,OTOF
433447,2:26765701:G>GGAAGGA,NM_194248.2:c.80-5065_80-5060dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433448,2:26765723:G>A,NM_194248.2:c.80-5081C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.838,0.0023,1KG_AFR_AF,OTOF
433449,2:26765738:G>A,NM_194248.2:c.80-5096C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.223,\N,\N,OTOF
433450,2:26765741:A>G,NM_194248.2:c.80-5099T>C,\N,\N,1/46,Benign,\N,intron_variant,2.658,0.0143,1KG_SAS_AF,OTOF
433451,2:26765747:C>T,NM_194248.2:c.80-5105G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.447,\N,\N,OTOF
433452,2:26765750:G>T,NM_194248.2:c.80-5108C>A,\N,\N,1/46,Benign,\N,intron_variant,1.784,0.084,1KG_AFR_AF,OTOF
433453,2:26765753:C>A,NM_194248.2:c.80-5111G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.965,0.0008,1KG_AFR_AF,OTOF
433454,2:26765774:C>T,NM_194248.2:c.80-5132G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.681,0.0008,1KG_AFR_AF,OTOF
433455,2:26765782:G>A,NM_194248.2:c.80-5140C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.002,0.001,1KG_EAS_AF,OTOF
433456,2:26765806:G>A,NM_194248.2:c.80-5164C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.406,0.002,1KG_SAS_AF,OTOF
433457,2:26765838:T>C,NM_194248.2:c.80-5196A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.441,\N,\N,OTOF
433458,2:26765843:C>A,NM_194248.2:c.80-5201G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.284,0.001,1KG_EUR_AF,OTOF
433459,2:26765857:C>T,NM_194248.2:c.80-5215G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.213,0.002,1KG_EAS_AF,OTOF
433460,2:26765875:T>A,NM_194248.2:c.80-5233A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.074,\N,\N,OTOF
433461,2:26765941:C>T,NM_194248.2:c.80-5299G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.405,0.003,1KG_EAS_AF,OTOF
433462,2:26765958:G>T,NM_194248.2:c.80-5316C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.157,\N,\N,OTOF
433463,2:26765966:G>A,NM_194248.2:c.80-5324C>T,\N,\N,1/46,Benign,\N,intron_variant,4.418,0.0575,1KG_AFR_AF,OTOF
433464,2:26765981:C>T,NM_194248.2:c.80-5339G>A,\N,\N,1/46,Benign,\N,intron_variant,2.977,0.0092,1KG_SAS_AF,OTOF
433465,2:26766053:G>A,NM_194248.2:c.80-5411C>T,\N,\N,1/46,Benign,\N,intron_variant,2.082,0.9742,1KG_EAS_AF,OTOF
433466,2:26766066:T>G,NM_194248.2:c.80-5424A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.411,0.0008,1KG_AFR_AF,OTOF
433467,2:26766071:G>A,NM_194248.2:c.80-5429C>T,\N,\N,1/46,Benign,\N,intron_variant,13.15,0.5086,1KG_AMR_AF,OTOF
433468,2:26766079:C>T,NM_194248.2:c.80-5437G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,13.82,\N,\N,OTOF
433469,2:26766114:C>T,NM_194248.2:c.80-5472G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.79,\N,\N,OTOF
433470,2:26766119:C>T,NM_194248.2:c.80-5477G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.395,\N,\N,OTOF
433471,2:26766141:A>G,NM_194248.2:c.80-5499T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.451,\N,\N,OTOF
433472,2:26766146:G>A,NM_194248.2:c.80-5504C>T,\N,\N,1/46,Benign,\N,intron_variant,5.734,0.0121,1KG_AFR_AF,OTOF
433473,2:26766149:G>A,NM_194248.2:c.80-5507C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.709,0.001,1KG_EAS_AF,OTOF
433474,2:26766152:C>T,NM_194248.2:c.80-5510G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.266,0.001,1KG_EUR_AF,OTOF
433475,2:26766153:G>A,NM_194248.2:c.80-5511C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.877,0.0031,1KG_SAS_AF,OTOF
433476,2:26766155:C>A,NM_194248.2:c.80-5513G>T,\N,\N,1/46,Benign,\N,intron_variant,3.111,0.0053,1KG_AFR_AF,OTOF
433477,2:26766157:C>T,NM_194248.2:c.80-5515G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.374,\N,\N,OTOF
433478,2:26766165:C>T,NM_194248.2:c.80-5523G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.236,0.0015,1KG_AFR_AF,OTOF
433479,2:26766166:G>A,NM_194248.2:c.80-5524C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.192,0.001,1KG_SAS_AF,OTOF
433480,2:26766230:G>T,NM_194248.2:c.80-5588C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.695,\N,\N,OTOF
433481,2:26766236:C>T,NM_194248.2:c.80-5594G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.715,\N,\N,OTOF
433482,2:26766256:C>A,NM_194248.2:c.80-5614G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.293,0.0008,1KG_AFR_AF,OTOF
433483,2:26766281:A>G,NM_194248.2:c.80-5639T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.954,0.001,1KG_EUR_AF,OTOF
433484,2:26766300:G>T,NM_194248.2:c.80-5658C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.284,\N,\N,OTOF
433485,2:26766330:T>A,NM_194248.2:c.80-5688A>T,\N,\N,1/46,Benign,\N,intron_variant,5.805,0.008,1KG_EUR_AF,OTOF
433486,2:26766366:G>C,NM_194248.2:c.80-5724C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.541,0.003,1KG_EAS_AF,OTOF
433487,2:26766370:T>C,NM_194248.2:c.80-5728A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.269,\N,\N,OTOF
433488,2:26766397:C>A,NM_194248.2:c.80-5755G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.791,\N,\N,OTOF
433489,2:26766424:C>T,NM_194248.2:c.80-5782G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.969,\N,\N,OTOF
433490,2:26766454:C>CGGTTG,NM_194248.2:c.80-5813_80-5812insCAACC,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433491,2:26766455:C>CTTGGG,NM_194248.2:c.80-5814_80-5813insCCCAA,\N,\N,1/46,Benign,\N,intron_variant,2.145,0.8343,1KG_EAS_AF,OTOF
433492,2:26766458:G>A,NM_194248.2:c.80-5816C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.674,0.001,1KG_EUR_AF,OTOF
433493,2:26766468:C>G,NM_194248.2:c.80-5826G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.271,\N,\N,OTOF
433494,2:26766539:A>G,NM_194248.2:c.80-5897T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.036,0.001,1KG_SAS_AF,OTOF
433495,2:26766550:A>G,NM_194248.2:c.80-5908T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.798,0.001,1KG_EUR_AF,OTOF
433496,2:26766556:T>C,NM_194248.2:c.80-5914A>G,\N,\N,1/46,Benign,\N,intron_variant,1.126,0.683,1KG_AMR_AF,OTOF
433497,2:26766583:T>C,NM_194248.2:c.80-5941A>G,\N,\N,1/46,Benign,\N,intron_variant,0.066,0.0974,1KG_EUR_AF,OTOF
433498,2:26766595:AT>A,NM_194248.2:c.80-5954del,\N,\N,1/46,Benign,\N,intron_variant,3.944,0.0308,1KG_EAS_AF,OTOF
433499,2:26766607:C>T,NM_194248.2:c.80-5965G>A,\N,\N,1/46,Benign,\N,intron_variant,0.06,0.0098,1KG_AFR_AF,OTOF
433500,2:26766619:C>G,NM_194248.2:c.80-5977G>C,\N,\N,1/46,Benign,\N,intron_variant,0.683,0.0303,1KG_AMR_AF,OTOF
433501,2:26766639:C>A,NM_194248.2:c.80-5997G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.403,\N,\N,OTOF
433502,2:26766646:G>T,NM_194248.2:c.80-6004C>A,\N,\N,1/46,Benign,\N,intron_variant,0.053,0.0371,1KG_AFR_AF,OTOF
433503,2:26766648:A>G,NM_194248.2:c.80-6006T>C,\N,\N,1/46,Benign,\N,intron_variant,1.308,1,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
433504,2:26766685:A>G,NM_194248.2:c.80-6043T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.762,\N,\N,OTOF
433505,2:26766696:T>G,NM_194248.2:c.80-6054A>C,\N,\N,1/46,Benign,\N,intron_variant,2.297,0.0189,1KG_AFR_AF,OTOF
433506,2:26766730:G>A,NM_194248.2:c.80-6088C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.56,0.001,1KG_EUR_AF,OTOF
433507,2:26766741:T>G,NM_194248.2:c.80-6099A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.128,0.001,1KG_EAS_AF,OTOF
433508,2:26766757:T>C,NM_194248.2:c.80-6115A>G,\N,\N,1/46,Benign,\N,intron_variant,3.032,0.0454,1KG_AFR_AF,OTOF
433509,2:26766772:A>G,NM_194248.2:c.80-6130T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.637,\N,\N,OTOF
433510,2:26766783:C>T,NM_194248.2:c.80-6141G>A,\N,\N,1/46,Benign,\N,intron_variant,5.683,0.1452,1KG_AFR_AF,OTOF
433511,2:26766788:G>A,NM_194248.2:c.80-6146C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.915,0.0008,1KG_AFR_AF,OTOF
433512,2:26766811:A>G,NM_194248.2:c.80-6169T>C,\N,\N,1/46,Benign,\N,intron_variant,1.115,0.0274,1KG_AMR_AF,OTOF
433513,2:26766861:T>G,NM_194248.2:c.80-6219A>C,\N,\N,1/46,Benign,\N,intron_variant,2.401,0.0051,1KG_SAS_AF,OTOF
433514,2:26766880:C>A,NM_194248.2:c.80-6238G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.124,0.0008,1KG_AFR_AF,OTOF
433515,2:26766881:G>A,NM_194248.2:c.80-6239C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.034,\N,\N,OTOF
433516,2:26766890:G>C,NM_194248.2:c.80-6248C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.027,\N,\N,OTOF
433517,2:26766960:T>A,NM_194248.2:c.80-6318A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.266,\N,\N,OTOF
433518,2:26767009:T>G,NM_194248.2:c.80-6367A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,14.19,0.003,1KG_AFR_AF,OTOF
433519,2:26767097:A>C,NM_194248.2:c.80-6455T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.542,\N,\N,OTOF
433520,2:26767139:A>G,NM_194248.2:c.80-6497T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.47,0.001,1KG_EAS_AF,OTOF
433521,2:26767144:G>A,NM_194248.2:c.80-6502C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.542,\N,\N,OTOF
433522,2:26767166:C>T,NM_194248.2:c.80-6524G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.008,\N,\N,OTOF
433523,2:26767192:T>C,NM_194248.2:c.80-6550A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.425,0.0008,1KG_AFR_AF,OTOF
433524,2:26767221:C>T,NM_194248.2:c.80-6579G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.435,0.002,1KG_SAS_AF,OTOF
433525,2:26767283:A>G,NM_194248.2:c.80-6641T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.067,\N,\N,OTOF
433526,2:26767293:T>C,NM_194248.2:c.80-6651A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.75,\N,\N,OTOF
433527,2:26767373:T>C,NM_194248.2:c.80-6731A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.274,0.001,1KG_SAS_AF,OTOF
433528,2:26767401:G>A,NM_194248.2:c.80-6759C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.142,\N,\N,OTOF
433529,2:26767409:G>A,NM_194248.2:c.80-6767C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.532,\N,\N,OTOF
433530,2:26767409:G>T,NM_194248.2:c.80-6767C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.188,0.0045,1KG_AFR_AF,OTOF
433531,2:26767412:C>T,NM_194248.2:c.80-6770G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.263,\N,\N,OTOF
433532,2:26767424:A>C,NM_194248.2:c.80-6782T>G,\N,\N,1/46,Benign,\N,intron_variant,0.864,0.0265,1KG_AFR_AF,OTOF
433533,2:26767433:C>T,NM_194248.2:c.80-6791G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.091,\N,\N,OTOF
433534,2:26767452:G>A,NM_194248.2:c.80-6810C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.698,\N,\N,OTOF
433535,2:26767474:C>T,NM_194248.2:c.80-6832G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.511,\N,\N,OTOF
433536,2:26767481:G>A,NM_194248.2:c.80-6839C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.065,\N,\N,OTOF
433537,2:26767489:T>A,NM_194248.2:c.80-6847A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.489,\N,\N,OTOF
433538,2:26767548:T>C,NM_194248.2:c.80-6906A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.316,\N,\N,OTOF
433539,2:26767554:T>C,NM_194248.2:c.80-6912A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.295,0.0014,1KG_AMR_AF,OTOF
433540,2:26767563:T>G,NM_194248.2:c.80-6921A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.637,\N,\N,OTOF
433541,2:26767566:C>G,NM_194248.2:c.80-6924G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.104,0.001,1KG_EAS_AF,OTOF
433542,2:26767614:A>G,NM_194248.2:c.80-6972T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.786,\N,\N,OTOF
433543,2:26767641:C>T,NM_194248.2:c.80-6999G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.446,0.001,1KG_EAS_AF,OTOF
433544,2:26767659:A>G,NM_194248.2:c.80-7017T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.897,\N,\N,OTOF
433545,2:26767708:A>T,NM_194248.2:c.80-7066T>A,\N,\N,1/46,Benign,\N,intron_variant,1.27,0.0274,1KG_AMR_AF,OTOF
433546,2:26767735:C>G,NM_194248.2:c.80-7093G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.309,0.001,1KG_EUR_AF,OTOF
433547,2:26767749:C>CA,NM_194248.2:c.80-7108dup,\N,\N,1/46,Benign,\N,intron_variant,1.786,0.3759,1KG_AFR_AF,OTOF
433548,2:26767768:G>A,NM_194248.2:c.80-7126C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.126,\N,\N,OTOF
433549,2:26767769:C>T,NM_194248.2:c.80-7127G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.988,\N,\N,OTOF
433550,2:26767770:G>A,NM_194248.2:c.80-7128C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.086,0.002,1KG_EUR_AF,OTOF
433551,2:26767807:G>A,NM_194248.2:c.80-7165C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.786,\N,\N,OTOF
433552,2:26767815:A>G,NM_194248.2:c.80-7173T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.086,\N,\N,OTOF
433553,2:26767833:C>T,NM_194248.2:c.80-7191G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.067,0.0014,1KG_AMR_AF,OTOF
433554,2:26767834:G>A,NM_194248.2:c.80-7192C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.782,\N,\N,OTOF
433555,2:26767851:T>G,NM_194248.2:c.80-7209A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.033,\N,\N,OTOF
433556,2:26767877:C>G,NM_194248.2:c.80-7235G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.15,0.0015,1KG_AFR_AF,OTOF
433557,2:26767906:C>A,NM_194248.2:c.80-7264G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.125,\N,\N,OTOF
433558,2:26767908:CA>C,NM_194248.2:c.80-7267del,\N,\N,1/46,Benign,\N,intron_variant,2.896,0.9395,1KG_EAS_AF,OTOF
433559,2:26767908:CAAA>C,NM_194248.2:c.80-7269_80-7267del,\N,\N,1/46,Unknown significance,\N,intron_variant,2.78,\N,\N,OTOF
433560,2:26767908:CAAAAAA>C,NM_194248.2:c.80-7272_80-7267del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433561,2:26767918:A>G,NM_194248.2:c.80-7276T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.442,\N,\N,OTOF
433562,2:26767919:A>G,NM_194248.2:c.80-7277T>C,\N,\N,1/46,Benign,\N,intron_variant,0.043,0.6865,1KG_EAS_AF,OTOF
433563,2:26767923:A>G,NM_194248.2:c.80-7281T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.688,\N,\N,OTOF
433564,2:26767924:G>A,NM_194248.2:c.80-7282C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.833,\N,\N,OTOF
433565,2:26767929:G>A,NM_194248.2:c.80-7287C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.18,\N,\N,OTOF
433566,2:26767944:G>A,NM_194248.2:c.80-7302C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.18,\N,\N,OTOF
433567,2:26767996:TA>T,NM_194248.2:c.80-7355del,\N,\N,1/46,Unknown significance,\N,intron_variant,8.483,0.003,1KG_AFR_AF,OTOF
433568,2:26768003:A>T,NM_194248.2:c.80-7361T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.593,\N,\N,OTOF
433569,2:26768009:AGTT>A,NM_194248.2:c.80-7370_80-7368del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433570,2:26768028:A>G,NM_194248.2:c.80-7386T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.996,0.001,1KG_SAS_AF,OTOF
433571,2:26768123:C>T,NM_194248.2:c.80-7481G>A,\N,\N,1/46,Benign,\N,intron_variant,1.544,0.9901,1KG_EAS_AF,OTOF
433572,2:26768162:C>T,NM_194248.2:c.80-7520G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.712,0.0041,1KG_SAS_AF,OTOF
433573,2:26768163:G>A,NM_194248.2:c.80-7521C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.419,\N,\N,OTOF
433574,2:26768219:A>T,NM_194248.2:c.80-7577T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.419,\N,\N,OTOF
433575,2:26768233:T>G,NM_194248.2:c.80-7591A>C,\N,\N,1/46,Benign,\N,intron_variant,4.057,0.3669,1KG_AFR_AF,OTOF
433576,2:26768245:A>C,NM_194248.2:c.80-7603T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.265,0.0045,1KG_AFR_AF,OTOF
433577,2:26768248:G>A,NM_194248.2:c.80-7606C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.427,\N,\N,OTOF
433578,2:26768313:T>C,NM_194248.2:c.80-7671A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,7.469,0.0029,1KG_AMR_AF,OTOF
433579,2:26768315:T>C,NM_194248.2:c.80-7673A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,8.122,\N,\N,OTOF
433580,2:26768323:C>T,NM_194248.2:c.80-7681G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.496,\N,\N,OTOF
433581,2:26768346:A>AT,NM_194248.2:c.80-7705dup,\N,\N,1/46,Benign,\N,intron_variant,1.006,0.0153,1KG_SAS_AF,OTOF
433582,2:26768349:T>A,NM_194248.2:c.80-7707A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.563,0.0015,1KG_AFR_AF,OTOF
433583,2:26768409:A>G,NM_194248.2:c.80-7767T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.51,\N,\N,OTOF
433584,2:26768422:G>A,NM_194248.2:c.80-7780C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.613,\N,\N,OTOF
433585,2:26768426:G>C,NM_194248.2:c.80-7784C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,4.495,\N,\N,OTOF
433586,2:26768449:A>G,NM_194248.2:c.80-7807T>C,\N,\N,1/46,Benign,\N,intron_variant,6.213,0.0102,1KG_SAS_AF,OTOF
433587,2:26768503:CA>C,NM_194248.2:c.80-7862del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,0.0015,1KG_AFR_AF,OTOF
433588,2:26768542:A>C,NM_194248.2:c.80-7900T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.079,0.0015,1KG_AFR_AF,OTOF
433589,2:26768592:G>A,NM_194248.2:c.80-7950C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.359,\N,\N,OTOF
433590,2:26768617:A>AT,NM_194248.2:c.80-7976dup,\N,\N,1/46,Unknown significance,\N,intron_variant,2.718,0.003,1KG_AFR_AF,OTOF
433591,2:26768672:C>A,NM_194248.2:c.80-8030G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.127,0.001,1KG_EAS_AF,OTOF
433592,2:26768674:A>G,NM_194248.2:c.80-8032T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.207,0.001,1KG_EAS_AF,OTOF
433593,2:26768705:G>A,NM_194248.2:c.80-8063C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.095,0.001,1KG_SAS_AF,OTOF
433594,2:26768752:C>G,NM_194248.2:c.80-8110G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.641,\N,\N,OTOF
433595,2:26768780:T>C,NM_194248.2:c.80-8138A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,5.455,0.0031,1KG_SAS_AF,OTOF
433596,2:26768790:T>C,NM_194248.2:c.80-8148A>G,\N,\N,1/46,Benign,\N,intron_variant,7.264,0.0061,1KG_AFR_AF,OTOF
433597,2:26768903:G>A,NM_194248.2:c.80-8261C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.092,0.001,1KG_SAS_AF,OTOF
433598,2:26768910:G>A,NM_194248.2:c.80-8268C>T,\N,\N,1/46,Benign,\N,intron_variant,2.452,0.0129,1KG_EAS_AF,OTOF
433599,2:26768929:G>T,NM_194248.2:c.80-8287C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.74,0.001,1KG_EUR_AF,OTOF
433600,2:26768957:T>C,NM_194248.2:c.80-8315A>G,\N,\N,1/46,Benign,\N,intron_variant,3.374,0.0466,1KG_EAS_AF,OTOF
433601,2:26768965:A>G,NM_194248.2:c.80-8323T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.321,\N,\N,OTOF
433602,2:26768970:T>C,NM_194248.2:c.80-8328A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.189,0.001,1KG_EAS_AF,OTOF
433603,2:26769010:G>T,NM_194248.2:c.80-8368C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.035,\N,\N,OTOF
433604,2:26769050:C>G,NM_194248.2:c.80-8408G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.129,\N,\N,OTOF
433605,2:26769054:C>T,NM_194248.2:c.80-8412G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.423,0.001,1KG_SAS_AF,OTOF
433606,2:26769076:C>T,NM_194248.2:c.80-8434G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.798,0.0008,1KG_AFR_AF,OTOF
433607,2:26769094:C>T,NM_194248.2:c.80-8452G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.407,0.0008,1KG_AFR_AF,OTOF
433608,2:26769100:T>A,NM_194248.2:c.80-8458A>T,\N,\N,1/46,Benign,\N,intron_variant,2.673,0.5719,1KG_AFR_AF,OTOF
433609,2:26769100:T>C,NM_194248.2:c.80-8458A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.819,\N,\N,OTOF
433610,2:26769100:TGGT>AGGC,NM_194248.2:c.80-8461_80-8458delinsGCCT,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433611,2:26769102:G>C,NM_194248.2:c.80-8460C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.745,0.001,1KG_EAS_AF,OTOF
433612,2:26769103:T>C,NM_194248.2:c.80-8461A>G,\N,\N,1/46,Benign,\N,intron_variant,3.572,0.5719,1KG_AFR_AF,OTOF
433613,2:26769148:G>A,NM_194248.2:c.80-8506C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.621,0.001,1KG_SAS_AF,OTOF
433614,2:26769157:C>T,NM_194248.2:c.80-8515G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.208,0.001,1KG_EAS_AF,OTOF
433615,2:26769158:G>A,NM_194248.2:c.80-8516C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.748,\N,\N,OTOF
433616,2:26769165:C>A,NM_194248.2:c.80-8523G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.43,\N,\N,OTOF
433617,2:26769166:T>C,NM_194248.2:c.80-8524A>G,\N,\N,1/46,Benign,\N,intron_variant,0.984,0.0484,1KG_AFR_AF,OTOF
433618,2:26769197:T>G,NM_194248.2:c.80-8555A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.111,0.002,1KG_EAS_AF,OTOF
433619,2:26769221:C>T,NM_194248.2:c.80-8579G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.092,\N,\N,OTOF
433620,2:26769222:G>A,NM_194248.2:c.80-8580C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.092,0.0008,1KG_AFR_AF,OTOF
433621,2:26769253:C>T,NM_194248.2:c.80-8611G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.644,0.001,1KG_SAS_AF,OTOF
433622,2:26769254:G>A,NM_194248.2:c.80-8612C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.104,0.0008,1KG_AFR_AF,OTOF
433623,2:26769315:G>C,NM_194248.2:c.80-8673C>G,\N,\N,1/46,Benign,\N,intron_variant,0.156,0.0371,1KG_AFR_AF,OTOF
433624,2:26769334:A>G,NM_194248.2:c.80-8692T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.777,\N,\N,OTOF
433625,2:26769335:G>A,NM_194248.2:c.80-8693C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.157,\N,\N,OTOF
433626,2:26769335:G>GA,NM_194248.2:c.80-8694dup,\N,\N,1/46,Benign,\N,intron_variant,0.285,0.6915,1KG_EAS_AF,OTOF
433627,2:26769357:A>G,NM_194248.2:c.80-8715T>C,\N,\N,1/46,Benign,\N,intron_variant,1.191,0.0121,1KG_AFR_AF,OTOF
433628,2:26769362:T>C,NM_194248.2:c.80-8720A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.78,0.0014,1KG_AMR_AF,OTOF
433629,2:26769380:G>A,NM_194248.2:c.80-8738C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.315,\N,\N,OTOF
433630,2:26769436:G>T,NM_194248.2:c.80-8794C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.121,\N,\N,OTOF
433631,2:26769445:G>C,NM_194248.2:c.80-8803C>G,\N,\N,1/46,Benign,\N,intron_variant,5.977,0.0058,1KG_AMR_AF,OTOF
433632,2:26769487:T>C,NM_194248.2:c.80-8845A>G,\N,\N,1/46,Benign,\N,intron_variant,7.673,0.0484,1KG_AFR_AF,OTOF
433633,2:26769504:T>C,NM_194248.2:c.80-8862A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.451,\N,\N,OTOF
433634,2:26769517:T>G,NM_194248.2:c.80-8875A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.289,\N,\N,OTOF
433635,2:26769555:T>C,NM_194248.2:c.80-8913A>G,\N,\N,1/46,Benign,\N,intron_variant,6.421,0.1891,1KG_AFR_AF,OTOF
433636,2:26769573:T>C,NM_194248.2:c.80-8931A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,8.606,0.001,1KG_SAS_AF,OTOF
433637,2:26769589:A>G,NM_194248.2:c.80-8947T>C,\N,\N,1/46,Benign,\N,intron_variant,3.649,0.7222,1KG_EAS_AF,OTOF
433638,2:26769616:G>GT,NM_194248.2:c.80-8975dup,\N,\N,1/46,Benign,\N,intron_variant,7.769,0.4784,1KG_AMR_AF,OTOF
433639,2:26769616:G>GTT,NM_194248.2:c.80-8976_80-8975dup,\N,\N,1/46,Unknown significance,\N,intron_variant,7.652,\N,\N,OTOF
433640,2:26769616:GT>G,NM_194248.2:c.80-8975del,\N,\N,1/46,Unknown significance,\N,intron_variant,7.437,\N,\N,OTOF
433641,2:26769618:T>G,NM_194248.2:c.80-8976A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.489,\N,\N,OTOF
433642,2:26769629:T>A,NM_194248.2:c.80-8987A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,10.11,0.0014,1KG_AMR_AF,OTOF
433643,2:26769629:T>TA,NM_194248.2:c.80-8988_80-8987insT,\N,\N,1/46,Unknown significance,\N,intron_variant,7.362,\N,\N,OTOF
433644,2:26769631:T>A,NM_194248.2:c.80-8989A>T,\N,\N,1/46,Benign,\N,intron_variant,10.07,0.0143,1KG_SAS_AF,OTOF
433645,2:26769632:A>T,NM_194248.2:c.80-8990T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,8.294,\N,\N,OTOF
433646,2:26769649:G>T,NM_194248.2:c.80-9007C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,8.02,\N,\N,OTOF
433647,2:26769689:G>A,NM_194248.2:c.80-9047C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.227,\N,\N,OTOF
433648,2:26769772:G>T,NM_194248.2:c.80-9130C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.094,\N,\N,OTOF
433649,2:26769797:C>G,NM_194248.2:c.80-9155G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.611,0.002,1KG_SAS_AF,OTOF
433650,2:26769799:A>G,NM_194248.2:c.80-9157T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.566,0.003,1KG_EAS_AF,OTOF
433651,2:26769830:C>G,NM_194248.2:c.80-9188G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.694,0.001,1KG_EUR_AF,OTOF
433652,2:26769835:T>TC,NM_194248.2:c.80-9194dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433653,2:26769869:C>A,NM_194248.2:c.80-9227G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.232,\N,\N,OTOF
433654,2:26769878:A>G,NM_194248.2:c.80-9236T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.505,0.0008,1KG_AFR_AF,OTOF
433655,2:26769894:G>A,NM_194248.2:c.80-9252C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.258,\N,\N,OTOF
433656,2:26769901:G>A,NM_194248.2:c.80-9259C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.973,0.002,1KG_EUR_AF,OTOF
433657,2:26769905:A>G,NM_194248.2:c.80-9263T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.998,0.0014,1KG_AMR_AF,OTOF
433658,2:26769917:G>A,NM_194248.2:c.80-9275C>T,\N,\N,1/46,Benign,\N,intron_variant,6.076,0.0159,1KG_AMR_AF,OTOF
433659,2:26769919:G>C,NM_194248.2:c.80-9277C>G,\N,\N,1/46,Benign,\N,intron_variant,3.459,0.0234,1KG_AFR_AF,OTOF
433660,2:26769945:A>C,NM_194248.2:c.80-9303T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.795,0.001,1KG_SAS_AF,OTOF
433661,2:26769948:T>C,NM_194248.2:c.80-9306A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.79,0.0008,1KG_AFR_AF,OTOF
433662,2:26769968:A>T,NM_194248.2:c.80-9326T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.399,0.0008,1KG_AFR_AF,OTOF
433663,2:26769984:G>T,NM_194248.2:c.80-9342C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.253,0.0008,1KG_AFR_AF,OTOF
433664,2:26770016:C>T,NM_194248.2:c.80-9374G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.771,0.001,1KG_EAS_AF,OTOF
433665,2:26770037:T>G,NM_194248.2:c.80-9395A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.321,0.0008,1KG_AFR_AF,OTOF
433666,2:26770040:T>A,NM_194248.2:c.80-9398A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.407,\N,\N,OTOF
433667,2:26770100:T>A,NM_194248.2:c.80-9458A>T,\N,\N,1/46,Benign,\N,intron_variant,2.677,0.1677,1KG_SAS_AF,OTOF
433668,2:26770128:T>C,NM_194248.2:c.80-9486A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.702,\N,\N,OTOF
433669,2:26770188:C>T,NM_194248.2:c.80-9546G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.32,\N,\N,OTOF
433670,2:26770215:A>T,NM_194248.2:c.80-9573T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.488,0.0014,1KG_AMR_AF,OTOF
433671,2:26770270:A>C,NM_194248.2:c.80-9628T>G,\N,\N,1/46,Benign,\N,intron_variant,0.606,0.5202,1KG_AMR_AF,OTOF
433672,2:26770297:T>G,NM_194248.2:c.80-9655A>C,\N,\N,1/46,Benign,\N,intron_variant,0.611,0.0089,1KG_EUR_AF,OTOF
433673,2:26770318:G>C,NM_194248.2:c.80-9676C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.146,0.001,1KG_SAS_AF,OTOF
433674,2:26770326:T>C,NM_194248.2:c.80-9684A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.807,\N,\N,OTOF
433675,2:26770330:A>G,NM_194248.2:c.80-9688T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.191,\N,\N,OTOF
433676,2:26770362:T>C,NM_194248.2:c.80-9720A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.807,0.0041,1KG_SAS_AF,OTOF
433677,2:26770363:A>G,NM_194248.2:c.80-9721T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.671,\N,\N,OTOF
433678,2:26770398:G>A,NM_194248.2:c.80-9756C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.883,\N,\N,OTOF
433679,2:26770403:C>G,NM_194248.2:c.80-9761G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.442,0.001,1KG_EUR_AF,OTOF
433680,2:26770408:C>A,NM_194248.2:c.80-9766G>T,\N,\N,1/46,Benign,\N,intron_variant,0.641,0.0825,1KG_AFR_AF,OTOF
433681,2:26770469:C>T,NM_194248.2:c.80-9827G>A,\N,\N,1/46,Benign,\N,intron_variant,1.241,0.1111,1KG_EAS_AF,OTOF
433682,2:26770479:A>T,NM_194248.2:c.80-9837T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.913,\N,\N,OTOF
433683,2:26770484:A>T,NM_194248.2:c.80-9842T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.142,0.001,1KG_SAS_AF,OTOF
433684,2:26770533:G>C,NM_194248.2:c.80-9891C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.107,\N,\N,OTOF
433685,2:26770545:A>C,NM_194248.2:c.80-9903T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.179,\N,\N,OTOF
433686,2:26770546:A>C,NM_194248.2:c.80-9904T>G,\N,\N,1/46,Benign,\N,intron_variant,0.164,0.5086,1KG_AMR_AF,OTOF
433687,2:26770565:G>A,NM_194248.2:c.80-9923C>T,\N,\N,1/46,Benign,\N,intron_variant,0.441,0.0061,1KG_AFR_AF,OTOF
433688,2:26770568:G>A,NM_194248.2:c.80-9926C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.519,\N,\N,OTOF
433689,2:26770572:C>T,NM_194248.2:c.80-9930G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.963,\N,\N,OTOF
433690,2:26770583:A>G,NM_194248.2:c.80-9941T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.185,\N,\N,OTOF
433691,2:26770584:G>A,NM_194248.2:c.80-9942C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.674,0.0014,1KG_AMR_AF,OTOF
433692,2:26770593:G>A,NM_194248.2:c.80-9951C>T,\N,\N,1/46,Benign,\N,intron_variant,1.054,0.5202,1KG_AMR_AF,OTOF
433693,2:26770602:G>A,NM_194248.2:c.80-9960C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.579,0.0008,1KG_AFR_AF,OTOF
433694,2:26770604:G>A,NM_194248.2:c.80-9962C>T,\N,\N,1/46,Benign,\N,intron_variant,0.927,0.0113,1KG_AFR_AF,OTOF
433695,2:26770616:G>T,NM_194248.2:c.80-9974C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.428,0.001,1KG_EUR_AF,OTOF
433696,2:26770642:G>A,NM_194248.2:c.80-10000C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.941,0.001,1KG_EAS_AF,OTOF
433697,2:26770663:C>T,NM_194248.2:c.80-10021G>A,\N,\N,1/46,Benign,\N,intron_variant,0.47,0.0099,1KG_EUR_AF,OTOF
433698,2:26770665:C>T,NM_194248.2:c.80-10023G>A,\N,\N,1/46,Benign,\N,intron_variant,1.012,0.0166,1KG_AFR_AF,OTOF
433699,2:26770674:A>G,NM_194248.2:c.80-10032T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.506,0.0031,1KG_SAS_AF,OTOF
433700,2:26770681:C>A,NM_194248.2:c.80-10039G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.24,\N,\N,OTOF
433701,2:26770746:G>A,NM_194248.2:c.80-10104C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.549,\N,\N,OTOF
433702,2:26770774:T>C,NM_194248.2:c.80-10132A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.813,0.0015,1KG_AFR_AF,OTOF
433703,2:26770791:T>C,NM_194248.2:c.80-10149A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.511,\N,\N,OTOF
433704,2:26770819:T>C,NM_194248.2:c.80-10177A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.548,\N,\N,OTOF
433705,2:26770835:G>T,NM_194248.2:c.80-10193C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.179,\N,\N,OTOF
433706,2:26770837:T>C,NM_194248.2:c.80-10195A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.617,\N,\N,OTOF
433707,2:26770860:A>G,NM_194248.2:c.80-10218T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.709,0.0015,1KG_AFR_AF,OTOF
433708,2:26770871:T>C,NM_194248.2:c.80-10229A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.821,0.0008,1KG_AFR_AF,OTOF
433709,2:26770876:G>T,NM_194248.2:c.80-10234C>A,\N,\N,1/46,Benign,\N,intron_variant,2.582,0.0378,1KG_AFR_AF,OTOF
433710,2:26770887:T>C,NM_194248.2:c.80-10245A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.774,\N,\N,OTOF
433711,2:26770954:A>G,NM_194248.2:c.80-10312T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.622,\N,\N,OTOF
433712,2:26770958:C>T,NM_194248.2:c.80-10316G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.169,\N,\N,OTOF
433713,2:26770960:A>G,NM_194248.2:c.80-10318T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.223,0.002,1KG_EUR_AF,OTOF
433714,2:26770988:CCT>C,NM_194248.2:c.80-10348_80-10347del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433715,2:26771000:C>T,NM_194248.2:c.80-10358G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.98,\N,\N,OTOF
433716,2:26771049:G>C,NM_194248.2:c.79+10312C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.094,\N,\N,OTOF
433717,2:26771071:A>G,NM_194248.2:c.79+10290T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.352,\N,\N,OTOF
433718,2:26771133:C>T,NM_194248.2:c.79+10228G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.479,\N,\N,OTOF
433719,2:26771156:G>A,NM_194248.2:c.79+10205C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.763,0.001,1KG_EAS_AF,OTOF
433720,2:26771190:A>C,NM_194248.2:c.79+10171T>G,\N,\N,1/46,Benign,\N,intron_variant,3.55,0.1604,1KG_AFR_AF,OTOF
433721,2:26771221:A>G,NM_194248.2:c.79+10140T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.498,0.0031,1KG_SAS_AF,OTOF
433722,2:26771233:T>C,NM_194248.2:c.79+10128A>G,\N,\N,1/46,Benign,\N,intron_variant,0.753,0.1649,1KG_AFR_AF,OTOF
433723,2:26771247:G>A,NM_194248.2:c.79+10114C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.76,\N,\N,OTOF
433724,2:26771261:C>T,NM_194248.2:c.79+10100G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.765,0.0008,1KG_AFR_AF,OTOF
433725,2:26771296:C>G,NM_194248.2:c.79+10065G>C,\N,\N,1/46,Benign,\N,intron_variant,1.109,0.0469,1KG_AFR_AF,OTOF
433726,2:26771300:A>G,NM_194248.2:c.79+10061T>C,\N,\N,1/46,Benign,\N,intron_variant,2.987,0.7222,1KG_EAS_AF,OTOF
433727,2:26771335:G>A,NM_194248.2:c.79+10026C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.849,0.0008,1KG_AFR_AF,OTOF
433728,2:26771349:C>T,NM_194248.2:c.79+10012G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.254,0.001,1KG_EAS_AF,OTOF
433729,2:26771359:C>T,NM_194248.2:c.79+10002G>A,\N,\N,1/46,Benign,\N,intron_variant,1.939,0.0053,1KG_AFR_AF,OTOF
433730,2:26771371:C>T,NM_194248.2:c.79+9990G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.268,\N,\N,OTOF
433731,2:26771402:A>G,NM_194248.2:c.79+9959T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.584,0.001,1KG_EUR_AF,OTOF
433732,2:26771451:G>A,NM_194248.2:c.79+9910C>T,\N,\N,1/46,Benign,\N,intron_variant,0.563,0.3238,1KG_AFR_AF,OTOF
433733,2:26771481:C>T,NM_194248.2:c.79+9880G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.074,0.001,1KG_SAS_AF,OTOF
433734,2:26771517:T>C,NM_194248.2:c.79+9844A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.613,0.001,1KG_EUR_AF,OTOF
433735,2:26771519:T>C,NM_194248.2:c.79+9842A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,5.721,\N,\N,OTOF
433736,2:26771532:T>G,NM_194248.2:c.79+9829A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,10.73,0.001,1KG_EAS_AF,OTOF
433737,2:26771549:A>G,NM_194248.2:c.79+9812T>C,\N,\N,1/46,Benign,\N,intron_variant,8.289,0.2352,1KG_AFR_AF,OTOF
433738,2:26771589:C>T,NM_194248.2:c.79+9772G>A,\N,\N,1/46,Benign,\N,intron_variant,0.947,0.0174,1KG_AFR_AF,OTOF
433739,2:26771632:T>C,NM_194248.2:c.79+9729A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.851,0.0014,1KG_AMR_AF,OTOF
433740,2:26771641:G>T,NM_194248.2:c.79+9720C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.463,0.001,1KG_SAS_AF,OTOF
433741,2:26771663:C>T,NM_194248.2:c.79+9698G>A,\N,\N,1/46,Benign,\N,intron_variant,10.25,0.0143,1KG_SAS_AF,OTOF
433742,2:26771675:A>G,NM_194248.2:c.79+9686T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,11.36,\N,\N,OTOF
433743,2:26771713:T>C,NM_194248.2:c.79+9648A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.279,0.001,1KG_EAS_AF,OTOF
433744,2:26771731:G>C,NM_194248.2:c.79+9630C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.043,0.0015,1KG_AFR_AF,OTOF
433745,2:26771773:G>A,NM_194248.2:c.79+9588C>T,\N,\N,1/46,Benign,\N,intron_variant,1.232,0.0102,1KG_SAS_AF,OTOF
433746,2:26771773:G>T,NM_194248.2:c.79+9588C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.243,\N,\N,OTOF
433747,2:26771868:T>C,NM_194248.2:c.79+9493A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,11.15,\N,\N,OTOF
433748,2:26771919:A>G,NM_194248.2:c.79+9442T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,10.2,\N,\N,OTOF
433749,2:26771938:G>T,NM_194248.2:c.79+9423C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,8.866,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
433750,2:26771946:G>A,NM_194248.2:c.79+9415C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,11.18,\N,\N,OTOF
433751,2:26771950:T>C,NM_194248.2:c.79+9411A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,10.8,0.0008,1KG_AFR_AF,OTOF
433752,2:26771961:T>C,NM_194248.2:c.79+9400A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,6.985,\N,\N,OTOF
433753,2:26771989:C>A,NM_194248.2:c.79+9372G>T,\N,\N,1/46,Benign,\N,intron_variant,0.488,0.0129,1KG_AFR_AF,OTOF
433754,2:26772015:G>A,NM_194248.2:c.79+9346C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,9.927,0.001,1KG_EUR_AF,OTOF
433755,2:26772044:T>C,NM_194248.2:c.79+9317A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,10.5,\N,\N,OTOF
433756,2:26772097:A>G,NM_194248.2:c.79+9264T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.125,\N,\N,OTOF
433757,2:26772125:T>A,NM_194248.2:c.79+9236A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,11.66,0.001,1KG_EAS_AF,OTOF
433758,2:26772152:G>A,NM_194248.2:c.79+9209C>T,\N,\N,1/46,Benign,\N,intron_variant,9.94,0.0417,1KG_EUR_AF,OTOF
433759,2:26772182:AT>A,NM_194248.2:c.79+9178del,\N,\N,1/46,Benign,\N,intron_variant,9.393,0.0053,1KG_AFR_AF,OTOF
433760,2:26772183:T>C,NM_194248.2:c.79+9178A>G,\N,\N,1/46,Benign,\N,intron_variant,11.02,0.0102,1KG_SAS_AF,OTOF
433761,2:26772198:G>C,NM_194248.2:c.79+9163C>G,\N,\N,1/46,Benign,\N,intron_variant,0.369,0.0089,1KG_EUR_AF,OTOF
433762,2:26772209:T>TG,NM_194248.2:c.79+9151_79+9152insC,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433763,2:26772216:T>C,NM_194248.2:c.79+9145A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,6.36,0.001,1KG_EUR_AF,OTOF
433764,2:26772231:T>C,NM_194248.2:c.79+9130A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,6.704,\N,\N,OTOF
433765,2:26772240:A>G,NM_194248.2:c.79+9121T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.132,\N,\N,OTOF
433766,2:26772300:A>G,NM_194248.2:c.79+9061T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.318,0.0008,1KG_AFR_AF,OTOF
433767,2:26772313:T>C,NM_194248.2:c.79+9048A>G,\N,\N,1/46,Benign,\N,intron_variant,1.784,0.0102,1KG_SAS_AF,OTOF
433768,2:26772322:C>T,NM_194248.2:c.79+9039G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.989,0.001,1KG_EAS_AF,OTOF
433769,2:26772327:A>G,NM_194248.2:c.79+9034T>C,\N,\N,1/46,Benign,\N,intron_variant,1.903,0.0598,1KG_AFR_AF,OTOF
433770,2:26772350:G>T,NM_194248.2:c.79+9011C>A,\N,\N,1/46,Benign,\N,intron_variant,5.916,0.0378,1KG_AFR_AF,OTOF
433771,2:26772360:A>C,NM_194248.2:c.79+9001T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.078,0.001,1KG_EUR_AF,OTOF
433772,2:26772366:T>C,NM_194248.2:c.79+8995A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.666,\N,\N,OTOF
433773,2:26772368:G>A,NM_194248.2:c.79+8993C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.176,\N,\N,OTOF
433774,2:26772434:G>C,NM_194248.2:c.79+8927C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.171,0.0014,1KG_AMR_AF,OTOF
433775,2:26772457:C>T,NM_194248.2:c.79+8904G>A,\N,\N,1/46,Benign,\N,intron_variant,2.794,0.0068,1KG_AFR_AF,OTOF
433776,2:26772461:T>A,NM_194248.2:c.79+8900A>T,\N,\N,1/46,Benign,\N,intron_variant,6.58,0.005,1KG_EUR_AF,OTOF
433777,2:26772513:C>T,NM_194248.2:c.79+8848G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.462,\N,\N,OTOF
433778,2:26772536:T>A,NM_194248.2:c.79+8825A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.883,0.0008,1KG_AFR_AF,OTOF
433779,2:26772540:G>C,NM_194248.2:c.79+8821C>G,\N,\N,1/46,Benign,\N,intron_variant,1.466,0.0416,1KG_AFR_AF,OTOF
433780,2:26772575:G>T,NM_194248.2:c.79+8786C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.748,0.001,1KG_EUR_AF,OTOF
433781,2:26772660:G>T,NM_194248.2:c.79+8701C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.42,\N,\N,OTOF
433782,2:26772671:G>A,NM_194248.2:c.79+8690C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.689,0.0029,1KG_AMR_AF,OTOF
433783,2:26772681:G>A,NM_194248.2:c.79+8680C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.242,\N,\N,OTOF
433784,2:26772681:G>C,NM_194248.2:c.79+8680C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.035,0.0008,1KG_AFR_AF,OTOF
433785,2:26772718:G>A,NM_194248.2:c.79+8643C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.937,0.001,1KG_EAS_AF,OTOF
433786,2:26772752:C>T,NM_194248.2:c.79+8609G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,9.846,\N,\N,OTOF
433787,2:26772756:G>T,NM_194248.2:c.79+8605C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.302,\N,\N,OTOF
433788,2:26772778:G>A,NM_194248.2:c.79+8583C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.487,0.0008,1KG_AFR_AF,OTOF
433789,2:26772794:C>T,NM_194248.2:c.79+8567G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.479,0.0008,1KG_AFR_AF,OTOF
433790,2:26772833:C>G,NM_194248.2:c.79+8528G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.455,0.001,1KG_EAS_AF,OTOF
433791,2:26772841:G>A,NM_194248.2:c.79+8520C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.757,0.001,1KG_EUR_AF,OTOF
433792,2:26772908:T>G,NM_194248.2:c.79+8453A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.677,0.001,1KG_EAS_AF,OTOF
433793,2:26772909:A>G,NM_194248.2:c.79+8452T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.677,0.001,1KG_EUR_AF,OTOF
433794,2:26772916:G>A,NM_194248.2:c.79+8445C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.223,\N,\N,OTOF
433795,2:26772923:T>C,NM_194248.2:c.79+8438A>G,\N,\N,1/46,Benign,\N,intron_variant,1.263,0.0115,1KG_AMR_AF,OTOF
433796,2:26772932:T>A,NM_194248.2:c.79+8429A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,8.303,0.001,1KG_SAS_AF,OTOF
433797,2:26772972:GA>G,NM_194248.2:c.79+8388del,\N,\N,1/46,Unknown significance,\N,intron_variant,0.184,\N,\N,OTOF
433798,2:26772984:A>G,NM_194248.2:c.79+8377T>C,\N,\N,1/46,Benign,\N,intron_variant,1.485,0.0113,1KG_AFR_AF,OTOF
433799,2:26773002:C>T,NM_194248.2:c.79+8359G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.151,\N,\N,OTOF
433800,2:26773056:A>G,NM_194248.2:c.79+8305T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,10.64,\N,\N,OTOF
433801,2:26773062:G>A,NM_194248.2:c.79+8299C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.069,\N,\N,OTOF
433802,2:26773079:C>T,NM_194248.2:c.79+8282G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.692,\N,\N,OTOF
433803,2:26773119:C>T,NM_194248.2:c.79+8242G>A,\N,\N,1/46,Benign,\N,intron_variant,0.38,0.7202,1KG_EAS_AF,OTOF
433804,2:26773120:G>A,NM_194248.2:c.79+8241C>T,\N,\N,1/46,Benign,\N,intron_variant,1.193,0.121,1KG_EAS_AF,OTOF
433805,2:26773137:A>T,NM_194248.2:c.79+8224T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.46,0.0041,1KG_SAS_AF,OTOF
433806,2:26773142:A>T,NM_194248.2:c.79+8219T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.07,\N,\N,OTOF
433807,2:26773151:C>T,NM_194248.2:c.79+8210G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.042,0.001,1KG_SAS_AF,OTOF
433808,2:26773159:C>T,NM_194248.2:c.79+8202G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.593,0.001,1KG_SAS_AF,OTOF
433809,2:26773160:G>A,NM_194248.2:c.79+8201C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.317,0.0029,1KG_AMR_AF,OTOF
433810,2:26773221:C>T,NM_194248.2:c.79+8140G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.451,\N,\N,OTOF
433811,2:26773234:G>A,NM_194248.2:c.79+8127C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.882,\N,\N,OTOF
433812,2:26773275:C>T,NM_194248.2:c.79+8086G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.063,0.002,1KG_SAS_AF,OTOF
433813,2:26773276:G>A,NM_194248.2:c.79+8085C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.555,\N,\N,OTOF
433814,2:26773289:C>T,NM_194248.2:c.79+8072G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.887,0.0014,1KG_AMR_AF,OTOF
433815,2:26773331:G>C,NM_194248.2:c.79+8030C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.523,0.001,1KG_EUR_AF,OTOF
433816,2:26773353:GGCCTGGCCCTCAAGGC>G,NM_194248.2:c.79+7992_79+8007del,\N,\N,1/46,Benign,\N,intron_variant,3.5,0.053,1KG_AFR_AF,OTOF
433817,2:26773369:C>T,NM_194248.2:c.79+7992G>A,\N,\N,1/46,Benign,\N,intron_variant,3.971,0.0461,1KG_AFR_AF,OTOF
433818,2:26773370:G>A,NM_194248.2:c.79+7991C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.311,\N,\N,OTOF
433819,2:26773401:T>G,NM_194248.2:c.79+7960A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.142,0.0029,1KG_AMR_AF,OTOF
433820,2:26773436:G>T,NM_194248.2:c.79+7925C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.126,0.001,1KG_EAS_AF,OTOF
433821,2:26773466:G>C,NM_194248.2:c.79+7895C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.869,0.0038,1KG_AFR_AF,OTOF
433822,2:26773470:C>A,NM_194248.2:c.79+7891G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.509,\N,\N,OTOF
433823,2:26773504:G>C,NM_194248.2:c.79+7857C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.229,0.001,1KG_EAS_AF,OTOF
433824,2:26773505:C>T,NM_194248.2:c.79+7856G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.093,\N,\N,OTOF
433825,2:26773506:G>A,NM_194248.2:c.79+7855C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.505,\N,\N,OTOF
433826,2:26773540:G>A,NM_194248.2:c.79+7821C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.943,0.0008,1KG_AFR_AF,OTOF
433827,2:26773569:G>A,NM_194248.2:c.79+7792C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.318,0.0014,1KG_AMR_AF,OTOF
433828,2:26773571:C>T,NM_194248.2:c.79+7790G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.508,0.0014,1KG_AMR_AF,OTOF
433829,2:26773598:T>A,NM_194248.2:c.79+7763A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.092,0.001,1KG_EAS_AF,OTOF
433830,2:26773616:G>A,NM_194248.2:c.79+7745C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.413,\N,\N,OTOF
433831,2:26773618:C>A,NM_194248.2:c.79+7743G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.593,\N,\N,OTOF
433832,2:26773625:G>A,NM_194248.2:c.79+7736C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.414,0.0008,1KG_AFR_AF,OTOF
433833,2:26773692:T>C,NM_194248.2:c.79+7669A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.638,0.0031,1KG_SAS_AF,OTOF
433834,2:26773725:C>G,NM_194248.2:c.79+7636G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.107,\N,\N,OTOF
433835,2:26773737:G>A,NM_194248.2:c.79+7624C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.2,\N,\N,OTOF
433836,2:26773756:G>A,NM_194248.2:c.79+7605C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.743,\N,\N,OTOF
433837,2:26773770:G>A,NM_194248.2:c.79+7591C>T,\N,\N,1/46,Benign,\N,intron_variant,0.876,0.3048,1KG_AFR_AF,OTOF
433838,2:26773775:C>T,NM_194248.2:c.79+7586G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.573,\N,\N,OTOF
433839,2:26773802:C>T,NM_194248.2:c.79+7559G>A,\N,\N,1/46,Benign,\N,intron_variant,5.093,0.0102,1KG_SAS_AF,OTOF
433840,2:26773807:C>A,NM_194248.2:c.79+7554G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.34,0.0015,1KG_AFR_AF,OTOF
433841,2:26773813:G>A,NM_194248.2:c.79+7548C>T,\N,\N,1/46,Benign,\N,intron_variant,0.658,0.0424,1KG_AFR_AF,OTOF
433842,2:26773860:CT>C,NM_194248.2:c.79+7500del,\N,\N,1/46,Benign,\N,intron_variant,6.733,0.0121,1KG_AFR_AF,OTOF
433843,2:26773866:TC>T,NM_194248.2:c.79+7494del,\N,\N,1/46,Benign,\N,intron_variant,0.473,0.0318,1KG_EUR_AF,OTOF
433844,2:26773867:C>T,NM_194248.2:c.79+7494G>A,\N,\N,1/46,Benign,\N,intron_variant,1.791,0.9591,1KG_SAS_AF,OTOF
433845,2:26773871:C>T,NM_194248.2:c.79+7490G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.383,0.001,1KG_EUR_AF,OTOF
433846,2:26773872:C>G,NM_194248.2:c.79+7489G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.094,0.0014,1KG_AMR_AF,OTOF
433847,2:26773880:C>T,NM_194248.2:c.79+7481G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.758,0.002,1KG_EAS_AF,OTOF
433848,2:26773886:C>T,NM_194248.2:c.79+7475G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.553,0.001,1KG_EAS_AF,OTOF
433849,2:26773889:G>A,NM_194248.2:c.79+7472C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.167,0.0014,1KG_AMR_AF,OTOF
433850,2:26773914:G>A,NM_194248.2:c.79+7447C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.111,0.001,1KG_SAS_AF,OTOF
433851,2:26773949:C>T,NM_194248.2:c.79+7412G>A,\N,\N,1/46,Benign,\N,intron_variant,2.55,0.0053,1KG_AFR_AF,OTOF
433852,2:26773961:G>A,NM_194248.2:c.79+7400C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.024,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
433853,2:26773982:C>T,NM_194248.2:c.79+7379G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.69,\N,\N,OTOF
433854,2:26773985:G>A,NM_194248.2:c.79+7376C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.663,\N,\N,OTOF
433855,2:26774014:C>T,NM_194248.2:c.79+7347G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.363,\N,\N,OTOF
433856,2:26774015:G>A,NM_194248.2:c.79+7346C>T,\N,\N,1/46,Benign,\N,intron_variant,0.913,0.0295,1KG_AFR_AF,OTOF
433857,2:26774018:C>T,NM_194248.2:c.79+7343G>A,\N,\N,1/46,Benign,\N,intron_variant,0.243,0.0144,1KG_AMR_AF,OTOF
433858,2:26774020:G>A,NM_194248.2:c.79+7341C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.539,0.0008,1KG_AFR_AF,OTOF
433859,2:26774048:T>G,NM_194248.2:c.79+7313A>C,\N,\N,1/46,Benign,\N,intron_variant,0.407,0.0288,1KG_AMR_AF,OTOF
433860,2:26774092:A>C,NM_194248.2:c.79+7269T>G,\N,\N,1/46,Benign,\N,intron_variant,0.565,0.0143,1KG_SAS_AF,OTOF
433861,2:26774105:C>T,NM_194248.2:c.79+7256G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.015,\N,\N,OTOF
433862,2:26774110:T>A,NM_194248.2:c.79+7251A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.571,\N,\N,OTOF
433863,2:26774111:G>A,NM_194248.2:c.79+7250C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.781,\N,\N,OTOF
433864,2:26774124:G>A,NM_194248.2:c.79+7237C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.932,0.001,1KG_EAS_AF,OTOF
433865,2:26774138:C>G,NM_194248.2:c.79+7223G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.339,0.001,1KG_SAS_AF,OTOF
433866,2:26774143:GC>G,NM_194248.2:c.79+7217del,\N,\N,1/46,Unknown significance,\N,intron_variant,1.079,0.004,1KG_EAS_AF,OTOF
433867,2:26774217:C>T,NM_194248.2:c.79+7144G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.154,0.0041,1KG_SAS_AF,OTOF
433868,2:26774219:C>G,NM_194248.2:c.79+7142G>C,\N,\N,1/46,Benign,\N,intron_variant,3.4,0.0575,1KG_AFR_AF,OTOF
433869,2:26774253:A>T,NM_194248.2:c.79+7108T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.538,0.0008,1KG_AFR_AF,OTOF
433870,2:26774259:G>C,NM_194248.2:c.79+7102C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.485,0.001,1KG_SAS_AF,OTOF
433871,2:26774260:G>A,NM_194248.2:c.79+7101C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.013,0.0008,1KG_AFR_AF,OTOF
433872,2:26774264:C>T,NM_194248.2:c.79+7097G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.344,\N,\N,OTOF
433873,2:26774265:T>C,NM_194248.2:c.79+7096A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.85,\N,\N,OTOF
433874,2:26774269:G>A,NM_194248.2:c.79+7092C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.353,0.001,1KG_EAS_AF,OTOF
433875,2:26774291:C>A,NM_194248.2:c.79+7070G>T,\N,\N,1/46,Benign,\N,intron_variant,2.77,0.9901,1KG_EAS_AF,OTOF
433876,2:26774346:G>A,NM_194248.2:c.79+7015C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.523,\N,\N,OTOF
433877,2:26774351:C>T,NM_194248.2:c.79+7010G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.316,\N,\N,OTOF
433878,2:26774352:G>T,NM_194248.2:c.79+7009C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.591,0.0045,1KG_AFR_AF,OTOF
433879,2:26774379:G>A,NM_194248.2:c.79+6982C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.308,0.001,1KG_SAS_AF,OTOF
433880,2:26774407:G>C,NM_194248.2:c.79+6954C>G,\N,\N,1/46,Benign,\N,intron_variant,0.73,0.0166,1KG_AFR_AF,OTOF
433881,2:26774474:C>CT,NM_194248.2:c.79+6886dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433882,2:26774493:A>G,NM_194248.2:c.79+6868T>C,\N,\N,1/46,Benign,\N,intron_variant,0.617,1,1KG_EAS_AF,OTOF
433883,2:26774537:G>T,NM_194248.2:c.79+6824C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.528,\N,\N,OTOF
433884,2:26774573:C>A,NM_194248.2:c.79+6788G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.954,0.003,1KG_EUR_AF,OTOF
433885,2:26774620:A>C,NM_194248.2:c.79+6741T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.603,0.003,1KG_EUR_AF,OTOF
433886,2:26774642:A>T,NM_194248.2:c.79+6719T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.851,0.0015,1KG_AFR_AF,OTOF
433887,2:26774660:T>C,NM_194248.2:c.79+6701A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.582,0.0008,1KG_AFR_AF,OTOF
433888,2:26774690:G>A,NM_194248.2:c.79+6671C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.373,0.001,1KG_SAS_AF,OTOF
433889,2:26774711:A>C,NM_194248.2:c.79+6650T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.697,\N,\N,OTOF
433890,2:26774748:A>T,NM_194248.2:c.79+6613T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.644,\N,\N,OTOF
433891,2:26774754:G>A,NM_194248.2:c.79+6607C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.202,\N,\N,OTOF
433892,2:26774765:A>G,NM_194248.2:c.79+6596T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.397,0.0014,1KG_AMR_AF,OTOF
433893,2:26774782:T>C,NM_194248.2:c.79+6579A>G,\N,\N,1/46,Benign,\N,intron_variant,0.996,0.2163,1KG_AFR_AF,OTOF
433894,2:26774804:A>G,NM_194248.2:c.79+6557T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.574,\N,\N,OTOF
433895,2:26774831:T>C,NM_194248.2:c.79+6530A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.525,0.0008,1KG_AFR_AF,OTOF
433896,2:26774865:G>A,NM_194248.2:c.79+6496C>T,\N,\N,1/46,Benign,\N,intron_variant,3.496,0.0068,1KG_AFR_AF,OTOF
433897,2:26774883:A>G,NM_194248.2:c.79+6478T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.401,0.003,1KG_AFR_AF,OTOF
433898,2:26774917:C>T,NM_194248.2:c.79+6444G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.146,0.0008,1KG_AFR_AF,OTOF
433899,2:26774933:TGA>T,NM_194248.2:c.79+6426_79+6427del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433900,2:26774959:T>TAA,NM_194248.2:c.79+6400_79+6401dup,\N,\N,1/46,Benign,\N,intron_variant,0.481,0.9216,1KG_EAS_AF,OTOF
433901,2:26774959:T>TAAA,NM_194248.2:c.79+6399_79+6401dup,\N,\N,1/46,Unknown significance,\N,intron_variant,0.441,\N,\N,OTOF
433902,2:26774959:TA>T,NM_194248.2:c.79+6401del,\N,\N,1/46,Unknown significance,\N,intron_variant,3.017,\N,\N,OTOF
433903,2:26774991:C>T,NM_194248.2:c.79+6370G>A,\N,\N,1/46,Benign,\N,intron_variant,2.948,0.006,1KG_EUR_AF,OTOF
433904,2:26774995:C>T,NM_194248.2:c.79+6366G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.977,0.0023,1KG_AFR_AF,OTOF
433905,2:26774996:G>C,NM_194248.2:c.79+6365C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.137,\N,\N,OTOF
433906,2:26775027:C>T,NM_194248.2:c.79+6334G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.913,\N,\N,OTOF
433907,2:26775048:G>A,NM_194248.2:c.79+6313C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.368,0.001,1KG_EAS_AF,OTOF
433908,2:26775118:C>T,NM_194248.2:c.79+6243G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.896,0.0023,1KG_AFR_AF,OTOF
433909,2:26775141:C>T,NM_194248.2:c.79+6220G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.25,0.004,1KG_EAS_AF,OTOF
433910,2:26775151:G>A,NM_194248.2:c.79+6210C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.232,\N,\N,OTOF
433911,2:26775228:A>AG,NM_194248.2:c.79+6132dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433912,2:26775236:C>T,NM_194248.2:c.79+6125G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.901,0.002,1KG_EAS_AF,OTOF
433913,2:26775250:A>G,NM_194248.2:c.79+6111T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.345,0.0008,1KG_AFR_AF,OTOF
433914,2:26775255:A>G,NM_194248.2:c.79+6106T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.631,\N,\N,OTOF
433915,2:26775281:C>T,NM_194248.2:c.79+6080G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.431,\N,\N,OTOF
433916,2:26775299:C>A,NM_194248.2:c.79+6062G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.595,\N,\N,OTOF
433917,2:26775306:G>A,NM_194248.2:c.79+6055C>T,\N,\N,1/46,Benign,\N,intron_variant,0.933,0.0499,1KG_AFR_AF,OTOF
433918,2:26775319:A>G,NM_194248.2:c.79+6042T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.125,\N,\N,OTOF
433919,2:26775322:A>T,NM_194248.2:c.79+6039T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.179,0.0008,1KG_AFR_AF,OTOF
433920,2:26775348:A>G,NM_194248.2:c.79+6013T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.114,0.001,1KG_EAS_AF,OTOF
433921,2:26775350:T>G,NM_194248.2:c.79+6011A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.128,\N,\N,OTOF
433922,2:26775371:A>G,NM_194248.2:c.79+5990T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.814,0.0015,1KG_AFR_AF,OTOF
433923,2:26775494:T>A,NM_194248.2:c.79+5867A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.458,\N,\N,OTOF
433924,2:26775499:G>A,NM_194248.2:c.79+5862C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.762,0.0031,1KG_SAS_AF,OTOF
433925,2:26775505:C>G,NM_194248.2:c.79+5856G>C,\N,\N,1/46,Benign,\N,intron_variant,0.497,0.0061,1KG_AFR_AF,OTOF
433926,2:26775506:G>A,NM_194248.2:c.79+5855C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.123,\N,\N,OTOF
433927,2:26775540:G>A,NM_194248.2:c.79+5821C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.814,\N,\N,OTOF
433928,2:26775560:G>C,NM_194248.2:c.79+5801C>G,\N,\N,1/46,Benign,\N,intron_variant,0.248,0.8889,1KG_EAS_AF,OTOF
433929,2:26775575:GAGA>G,NM_194248.2:c.79+5783_79+5785del,\N,\N,1/46,Benign,\N,intron_variant,6.296,0.1756,1KG_EAS_AF,OTOF
433930,2:26775602:G>A,NM_194248.2:c.79+5759C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.796,0.0038,1KG_AFR_AF,OTOF
433931,2:26775614:T>G,NM_194248.2:c.79+5747A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.892,\N,\N,OTOF
433932,2:26775641:G>T,NM_194248.2:c.79+5720C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.515,0.001,1KG_EAS_AF,OTOF
433933,2:26775644:T>A,NM_194248.2:c.79+5717A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.416,0.0031,1KG_SAS_AF,OTOF
433934,2:26775647:C>CA,NM_194248.2:c.79+5713_79+5714insT,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433935,2:26775648:C>T,NM_194248.2:c.79+5713G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.765,\N,\N,OTOF
433936,2:26775668:C>T,NM_194248.2:c.79+5693G>A,\N,\N,1/46,Benign,\N,intron_variant,3.027,0.007,1KG_EUR_AF,OTOF
433937,2:26775673:G>C,NM_194248.2:c.79+5688C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.156,\N,\N,OTOF
433938,2:26775708:C>T,NM_194248.2:c.79+5653G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.026,\N,\N,OTOF
433939,2:26775709:G>A,NM_194248.2:c.79+5652C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.227,0.001,1KG_EUR_AF,OTOF
433940,2:26775712:G>A,NM_194248.2:c.79+5649C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.544,\N,\N,OTOF
433941,2:26775727:A>G,NM_194248.2:c.79+5634T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.131,0.0008,1KG_AFR_AF,OTOF
433942,2:26775730:G>T,NM_194248.2:c.79+5631C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.771,\N,\N,OTOF
433943,2:26775743:G>A,NM_194248.2:c.79+5618C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.584,\N,\N,OTOF
433944,2:26775766:T>C,NM_194248.2:c.79+5595A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.52,\N,\N,OTOF
433945,2:26775815:G>T,NM_194248.2:c.79+5546C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.954,0.001,1KG_EUR_AF,OTOF
433946,2:26775835:G>A,NM_194248.2:c.79+5526C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.789,\N,\N,OTOF
433947,2:26775839:G>A,NM_194248.2:c.79+5522C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.732,\N,\N,OTOF
433948,2:26775853:T>C,NM_194248.2:c.79+5508A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.38,0.0015,1KG_AFR_AF,OTOF
433949,2:26775884:G>A,NM_194248.2:c.79+5477C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.233,\N,\N,OTOF
433950,2:26775899:C>T,NM_194248.2:c.79+5462G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.451,\N,\N,OTOF
433951,2:26775907:A>G,NM_194248.2:c.79+5454T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.283,0.0023,1KG_AFR_AF,OTOF
433952,2:26775919:G>T,NM_194248.2:c.79+5442C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.007,0.0008,1KG_AFR_AF,OTOF
433953,2:26775940:G>A,NM_194248.2:c.79+5421C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.532,0.0014,1KG_AMR_AF,OTOF
433954,2:26775966:G>C,NM_194248.2:c.79+5395C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.399,0.001,1KG_SAS_AF,OTOF
433955,2:26775972:G>A,NM_194248.2:c.79+5389C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.624,0.003,1KG_EAS_AF,OTOF
433956,2:26776039:A>C,NM_194248.2:c.79+5322T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.251,0.001,1KG_EAS_AF,OTOF
433957,2:26776057:T>C,NM_194248.2:c.79+5304A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.808,0.001,1KG_EAS_AF,OTOF
433958,2:26776087:A>G,NM_194248.2:c.79+5274T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.303,0.0023,1KG_AFR_AF,OTOF
433959,2:26776088:C>T,NM_194248.2:c.79+5273G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.702,\N,\N,OTOF
433960,2:26776114:A>G,NM_194248.2:c.79+5247T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.4,\N,\N,OTOF
433961,2:26776122:G>T,NM_194248.2:c.79+5239C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.297,0.001,1KG_EUR_AF,OTOF
433962,2:26776127:C>T,NM_194248.2:c.79+5234G>A,\N,\N,1/46,Benign,\N,intron_variant,7.059,0.6359,1KG_EAS_AF,OTOF
433963,2:26776151:TCTC>T,NM_194248.2:c.79+5207_79+5209del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,0.0038,1KG_AFR_AF,OTOF
433964,2:26776176:T>C,NM_194248.2:c.79+5185A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.278,0.001,1KG_EAS_AF,OTOF
433965,2:26776177:C>T,NM_194248.2:c.79+5184G>A,\N,\N,1/46,Benign,\N,intron_variant,2.912,0.0136,1KG_AFR_AF,OTOF
433966,2:26776209:C>G,NM_194248.2:c.79+5152G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.346,\N,\N,OTOF
433967,2:26776222:C>T,NM_194248.2:c.79+5139G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.347,0.003,1KG_EUR_AF,OTOF
433968,2:26776238:C>G,NM_194248.2:c.79+5123G>C,\N,\N,1/46,Benign,\N,intron_variant,7.347,0.0061,1KG_SAS_AF,OTOF
433969,2:26776241:T>C,NM_194248.2:c.79+5120A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.458,0.0015,1KG_AFR_AF,OTOF
433970,2:26776287:C>A,NM_194248.2:c.79+5074G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.291,0.001,1KG_EUR_AF,OTOF
433971,2:26776294:T>C,NM_194248.2:c.79+5067A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.182,\N,\N,OTOF
433972,2:26776304:C>G,NM_194248.2:c.79+5057G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.297,0.001,1KG_EAS_AF,OTOF
433973,2:26776305:C>T,NM_194248.2:c.79+5056G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.413,0.0015,1KG_AFR_AF,OTOF
433974,2:26776308:C>CGTCTCT,NM_194248.2:c.79+5047_79+5052dup,\N,\N,1/46,Benign,\N,intron_variant,0.607,0.005,1KG_EAS_AF,OTOF
433975,2:26776309:G>A,NM_194248.2:c.79+5052C>T,\N,\N,1/46,Benign,\N,intron_variant,0.536,0.0106,1KG_AFR_AF,OTOF
433976,2:26776346:A>G,NM_194248.2:c.79+5015T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.58,\N,\N,OTOF
433977,2:26776404:G>A,NM_194248.2:c.79+4957C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.956,0.002,1KG_EAS_AF,OTOF
433978,2:26776425:T>C,NM_194248.2:c.79+4936A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.824,0.001,1KG_EUR_AF,OTOF
433979,2:26776428:C>A,NM_194248.2:c.79+4933G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.622,\N,\N,OTOF
433980,2:26776431:A>G,NM_194248.2:c.79+4930T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.594,0.001,1KG_EUR_AF,OTOF
433981,2:26776447:C>T,NM_194248.2:c.79+4914G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.896,\N,\N,OTOF
433982,2:26776451:G>A,NM_194248.2:c.79+4910C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.779,0.001,1KG_SAS_AF,OTOF
433983,2:26776456:G>A,NM_194248.2:c.79+4905C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.647,\N,\N,OTOF
433984,2:26776458:C>T,NM_194248.2:c.79+4903G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.317,0.001,1KG_SAS_AF,OTOF
433985,2:26776471:G>A,NM_194248.2:c.79+4890C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.863,0.0045,1KG_AFR_AF,OTOF
433986,2:26776492:C>T,NM_194248.2:c.79+4869G>A,\N,\N,1/46,Benign,\N,intron_variant,0.985,0.0204,1KG_AFR_AF,OTOF
433987,2:26776509:G>T,NM_194248.2:c.79+4852C>A,\N,\N,1/46,Benign,\N,intron_variant,0.699,0.0121,1KG_AFR_AF,OTOF
433988,2:26776560:G>T,NM_194248.2:c.79+4801C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.02,0.001,1KG_EUR_AF,OTOF
433989,2:26776602:A>G,NM_194248.2:c.79+4759T>C,\N,\N,1/46,Benign,\N,intron_variant,1.916,0.994,1KG_EUR_AF,OTOF
433990,2:26776604:C>T,NM_194248.2:c.79+4757G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.194,0.001,1KG_SAS_AF,OTOF
433991,2:26776611:G>A,NM_194248.2:c.79+4750C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.165,\N,\N,OTOF
433992,2:26776616:A>G,NM_194248.2:c.79+4745T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.687,\N,\N,OTOF
433993,2:26776619:C>G,NM_194248.2:c.79+4742G>C,\N,\N,1/46,Benign,\N,intron_variant,1.244,0.7183,1KG_EAS_AF,OTOF
433994,2:26776639:T>C,NM_194248.2:c.79+4722A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.352,0.0014,1KG_AMR_AF,OTOF
433995,2:26776644:C>T,NM_194248.2:c.79+4717G>A,\N,\N,1/46,Benign,\N,intron_variant,1.994,0.0469,1KG_AFR_AF,OTOF
433996,2:26776644:CGT>TGC,NM_194248.2:c.79+4715_79+4717delinsGCA,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
433997,2:26776646:T>C,NM_194248.2:c.79+4715A>G,\N,\N,1/46,Benign,\N,intron_variant,1.386,0.0469,1KG_AFR_AF,OTOF
433998,2:26776646:T>G,NM_194248.2:c.79+4715A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.74,0.0041,1KG_SAS_AF,OTOF
433999,2:26776675:C>T,NM_194248.2:c.79+4686G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.493,0.001,1KG_EAS_AF,OTOF
434000,2:26776686:T>C,NM_194248.2:c.79+4675A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.809,0.001,1KG_SAS_AF,OTOF
434001,2:26776697:C>T,NM_194248.2:c.79+4664G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.604,\N,\N,OTOF
434002,2:26776698:G>A,NM_194248.2:c.79+4663C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.96,\N,\N,OTOF
434003,2:26776711:C>T,NM_194248.2:c.79+4650G>A,\N,\N,1/46,Benign,\N,intron_variant,3.363,0.0068,1KG_AFR_AF,OTOF
434004,2:26776725:G>T,NM_194248.2:c.79+4636C>A,\N,\N,1/46,Benign,\N,intron_variant,0.996,0.5706,1KG_AMR_AF,OTOF
434005,2:26776727:T>C,NM_194248.2:c.79+4634A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.286,\N,\N,OTOF
434006,2:26776766:C>T,NM_194248.2:c.79+4595G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.565,\N,\N,OTOF
434007,2:26776781:C>T,NM_194248.2:c.79+4580G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.234,\N,\N,OTOF
434008,2:26776788:C>G,NM_194248.2:c.79+4573G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.048,0.001,1KG_EAS_AF,OTOF
434009,2:26776806:C>T,NM_194248.2:c.79+4555G>A,\N,\N,1/46,Benign,\N,intron_variant,2.598,0.0129,1KG_AFR_AF,OTOF
434010,2:26776810:G>A,NM_194248.2:c.79+4551C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.179,\N,\N,OTOF
434011,2:26776818:A>C,NM_194248.2:c.79+4543T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.607,0.0031,1KG_SAS_AF,OTOF
434012,2:26776819:T>C,NM_194248.2:c.79+4542A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.072,\N,\N,OTOF
434013,2:26776842:C>G,NM_194248.2:c.79+4519G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.001,\N,\N,OTOF
434014,2:26776871:T>C,NM_194248.2:c.79+4490A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.278,\N,\N,OTOF
434015,2:26776872:C>G,NM_194248.2:c.79+4489G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.131,0.0008,1KG_AFR_AF,OTOF
434016,2:26776874:A>G,NM_194248.2:c.79+4487T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.497,\N,\N,OTOF
434017,2:26776904:T>C,NM_194248.2:c.79+4457A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.051,\N,\N,OTOF
434018,2:26776906:G>T,NM_194248.2:c.79+4455C>A,\N,\N,1/46,Benign,\N,intron_variant,0.332,0.127,1KG_EAS_AF,OTOF
434019,2:26776908:G>A,NM_194248.2:c.79+4453C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.083,0.0015,1KG_AFR_AF,OTOF
434020,2:26776913:C>T,NM_194248.2:c.79+4448G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.005,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
434021,2:26776916:G>C,NM_194248.2:c.79+4445C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.633,\N,\N,OTOF
434022,2:26776919:G>A,NM_194248.2:c.79+4442C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.887,0.0023,1KG_AFR_AF,OTOF
434023,2:26776920:TC>T,NM_194248.2:c.79+4440del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434024,2:26776928:A>G,NM_194248.2:c.79+4433T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,9.678,0.003,1KG_EAS_AF,OTOF
434025,2:26776953:C>T,NM_194248.2:c.79+4408G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,10.32,\N,\N,OTOF
434026,2:26776988:G>A,NM_194248.2:c.79+4373C>T,\N,\N,1/46,Benign,\N,intron_variant,0.207,0.006,1KG_EUR_AF,OTOF
434027,2:26777011:A>G,NM_194248.2:c.79+4350T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.936,0.001,1KG_EAS_AF,OTOF
434028,2:26777031:C>T,NM_194248.2:c.79+4330G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.493,\N,\N,OTOF
434029,2:26777033:C>CA,NM_194248.2:c.79+4327dup,\N,\N,1/46,Unknown significance,\N,intron_variant,2.039,\N,\N,OTOF
434030,2:26777033:C>CAA,NM_194248.2:c.79+4326_79+4327dup,\N,\N,1/46,Unknown significance,\N,intron_variant,1.908,\N,\N,OTOF
434031,2:26777106:G>T,NM_194248.2:c.79+4255C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.522,0.001,1KG_SAS_AF,OTOF
434032,2:26777124:C>T,NM_194248.2:c.79+4237G>A,\N,\N,1/46,Benign,\N,intron_variant,1.899,0.031,1KG_AFR_AF,OTOF
434033,2:26777151:G>C,NM_194248.2:c.79+4210C>G,\N,\N,1/46,Benign,\N,intron_variant,0.781,0.0389,1KG_AMR_AF,OTOF
434034,2:26777167:T>C,NM_194248.2:c.79+4194A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.138,0.0008,1KG_AFR_AF,OTOF
434035,2:26777188:T>G,NM_194248.2:c.79+4173A>C,\N,\N,1/46,Unknown significance,\N,intron_variant,13.59,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
434036,2:26777207:A>T,NM_194248.2:c.79+4154T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.13,\N,\N,OTOF
434037,2:26777229:A>G,NM_194248.2:c.79+4132T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.794,0.001,1KG_EAS_AF,OTOF
434038,2:26777255:C>G,NM_194248.2:c.79+4106G>C,\N,\N,1/46,Benign,\N,intron_variant,2.761,0.0123,1KG_SAS_AF,OTOF
434039,2:26777318:G>T,NM_194248.2:c.79+4043C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.925,0.001,1KG_EUR_AF,OTOF
434040,2:26777338:T>C,NM_194248.2:c.79+4023A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.532,\N,\N,OTOF
434041,2:26777350:G>C,NM_194248.2:c.79+4011C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.438,0.001,1KG_SAS_AF,OTOF
434042,2:26777373:C>A,NM_194248.2:c.79+3988G>T,\N,\N,1/46,Benign,\N,intron_variant,3.598,0.0086,1KG_AMR_AF,OTOF
434043,2:26777395:A>ACTT,NM_194248.2:c.79+3965_79+3966insAAG,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434044,2:26777409:C>T,NM_194248.2:c.79+3952G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.083,\N,\N,OTOF
434045,2:26777432:C>T,NM_194248.2:c.79+3929G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.241,0.0008,1KG_AFR_AF,OTOF
434046,2:26777547:T>A,NM_194248.2:c.79+3814A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.592,0.001,1KG_EUR_AF,OTOF
434047,2:26777576:G>A,NM_194248.2:c.79+3785C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.465,\N,\N,OTOF
434048,2:26777586:T>C,NM_194248.2:c.79+3775A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.146,\N,\N,OTOF
434049,2:26777597:T>C,NM_194248.2:c.79+3764A>G,\N,\N,1/46,Benign,\N,intron_variant,6.963,0.8403,1KG_EAS_AF,OTOF
434050,2:26777722:G>A,NM_194248.2:c.79+3639C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.984,\N,\N,OTOF
434051,2:26777747:G>A,NM_194248.2:c.79+3614C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.632,0.0008,1KG_AFR_AF,OTOF
434052,2:26777747:GC>G,NM_194248.2:c.79+3613del,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434053,2:26777766:T>C,NM_194248.2:c.79+3595A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.003,0.0008,1KG_AFR_AF,OTOF
434054,2:26777789:C>T,NM_194248.2:c.79+3572G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.719,\N,\N,OTOF
434055,2:26777805:G>C,NM_194248.2:c.79+3556C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.514,0.003,1KG_EAS_AF,OTOF
434056,2:26777861:A>T,NM_194248.2:c.79+3500T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.727,0.0015,1KG_AFR_AF,OTOF
434057,2:26777875:C>T,NM_194248.2:c.79+3486G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.024,0.0014,1KG_AMR_AF,OTOF
434058,2:26777882:G>C,NM_194248.2:c.79+3479C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.439,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
434059,2:26777895:T>G,NM_194248.2:c.79+3466A>C,\N,\N,1/46,Benign,\N,intron_variant,4.05,0.0297,1KG_SAS_AF,OTOF
434060,2:26777899:G>A,NM_194248.2:c.79+3462C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.434,\N,\N,OTOF
434061,2:26777919:T>C,NM_194248.2:c.79+3442A>G,\N,\N,1/46,Benign,\N,intron_variant,3.428,0.1142,1KG_AFR_AF,OTOF
434062,2:26777936:C>T,NM_194248.2:c.79+3425G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.024,0.001,1KG_SAS_AF,OTOF
434063,2:26777937:G>A,NM_194248.2:c.79+3424C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.379,\N,\N,OTOF
434064,2:26777982:G>A,NM_194248.2:c.79+3379C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.604,0.001,1KG_EAS_AF,OTOF
434065,2:26778029:C>G,NM_194248.2:c.79+3332G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,8.246,\N,\N,OTOF
434066,2:26778096:T>A,NM_194248.2:c.79+3265A>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.184,\N,\N,OTOF
434067,2:26778104:G>T,NM_194248.2:c.79+3257C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.47,\N,\N,OTOF
434068,2:26778108:G>A,NM_194248.2:c.79+3253C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.299,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,OTOF
434069,2:26778133:G>A,NM_194248.2:c.79+3228C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.695,\N,\N,OTOF
434070,2:26778138:C>A,NM_194248.2:c.79+3223G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,6.138,\N,\N,OTOF
434071,2:26778164:A>G,NM_194248.2:c.79+3197T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.871,0.001,1KG_EUR_AF,OTOF
434072,2:26778195:C>T,NM_194248.2:c.79+3166G>A,\N,\N,1/46,Benign,\N,intron_variant,1.205,0.2222,1KG_EAS_AF,OTOF
434073,2:26778206:C>A,NM_194248.2:c.79+3155G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.84,\N,\N,OTOF
434074,2:26778212:C>A,NM_194248.2:c.79+3149G>T,\N,\N,1/46,Benign,\N,intron_variant,3.781,0.036,1KG_AMR_AF,OTOF
434075,2:26778234:T>C,NM_194248.2:c.79+3127A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.085,0.0008,1KG_AFR_AF,OTOF
434076,2:26778239:C>T,NM_194248.2:c.79+3122G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.745,\N,\N,OTOF
434077,2:26778255:C>T,NM_194248.2:c.79+3106G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.08,0.001,1KG_EAS_AF,OTOF
434078,2:26778272:G>C,NM_194248.2:c.79+3089C>G,\N,\N,1/46,Benign,\N,intron_variant,0.51,0.0076,1KG_AFR_AF,OTOF
434079,2:26778321:C>G,NM_194248.2:c.79+3040G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.434,0.0015,1KG_AFR_AF,OTOF
434080,2:26778324:G>A,NM_194248.2:c.79+3037C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.652,0.0008,1KG_AFR_AF,OTOF
434081,2:26778328:G>A,NM_194248.2:c.79+3033C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.755,0.001,1KG_EAS_AF,OTOF
434082,2:26778338:A>G,NM_194248.2:c.79+3023T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.736,\N,\N,OTOF
434083,2:26778352:G>C,NM_194248.2:c.79+3009C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.918,\N,\N,OTOF
434084,2:26778387:G>A,NM_194248.2:c.79+2974C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.745,0.0041,1KG_SAS_AF,OTOF
434085,2:26778398:C>T,NM_194248.2:c.79+2963G>A,\N,\N,1/46,Benign,\N,intron_variant,5.88,0.0098,1KG_AFR_AF,OTOF
434086,2:26778410:C>T,NM_194248.2:c.79+2951G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.454,0.003,1KG_AFR_AF,OTOF
434087,2:26778413:G>A,NM_194248.2:c.79+2948C>T,\N,\N,1/46,Benign,\N,intron_variant,2.031,0.553,1KG_AFR_AF,OTOF
434088,2:26778415:C>G,NM_194248.2:c.79+2946G>C,\N,\N,1/46,Benign,\N,intron_variant,1.158,0.0643,1KG_AFR_AF,OTOF
434089,2:26778424:G>C,NM_194248.2:c.79+2937C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.863,0.002,1KG_SAS_AF,OTOF
434090,2:26778425:T>C,NM_194248.2:c.79+2936A>G,\N,\N,1/46,Benign,\N,intron_variant,1.132,0.0079,1KG_EAS_AF,OTOF
434091,2:26778444:G>A,NM_194248.2:c.79+2917C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.724,\N,\N,OTOF
434092,2:26778466:G>A,NM_194248.2:c.79+2895C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.048,\N,\N,OTOF
434093,2:26778480:G>A,NM_194248.2:c.79+2881C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.177,0.0008,1KG_AFR_AF,OTOF
434094,2:26778487:C>T,NM_194248.2:c.79+2874G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.964,0.0008,1KG_AFR_AF,OTOF
434095,2:26778492:G>A,NM_194248.2:c.79+2869C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.968,0.0014,1KG_AMR_AF,OTOF
434096,2:26778513:C>T,NM_194248.2:c.79+2848G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.583,\N,\N,OTOF
434097,2:26778514:G>A,NM_194248.2:c.79+2847C>T,\N,\N,1/46,Benign,\N,intron_variant,3.039,0.0099,1KG_EUR_AF,OTOF
434098,2:26778520:T>A,NM_194248.2:c.79+2841A>T,\N,\N,1/46,Benign,\N,intron_variant,4.97,0.0079,1KG_EAS_AF,OTOF
434099,2:26778531:G>A,NM_194248.2:c.79+2830C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.324,0.001,1KG_EUR_AF,OTOF
434100,2:26778554:C>T,NM_194248.2:c.79+2807G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.515,\N,\N,OTOF
434101,2:26778556:C>G,NM_194248.2:c.79+2805G>C,\N,\N,1/46,Benign,\N,intron_variant,2.39,0.0053,1KG_AFR_AF,OTOF
434102,2:26778563:T>C,NM_194248.2:c.79+2798A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.969,0.0038,1KG_AFR_AF,OTOF
434103,2:26778578:G>A,NM_194248.2:c.79+2783C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.638,\N,\N,OTOF
434104,2:26778592:G>A,NM_194248.2:c.79+2769C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.821,0.0015,1KG_AFR_AF,OTOF
434105,2:26778597:C>G,NM_194248.2:c.79+2764G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.025,0.0008,1KG_AFR_AF,OTOF
434106,2:26778605:C>T,NM_194248.2:c.79+2756G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.136,\N,\N,OTOF
434107,2:26778615:C>G,NM_194248.2:c.79+2746G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.287,0.0031,1KG_SAS_AF,OTOF
434108,2:26778618:A>G,NM_194248.2:c.79+2743T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.761,0.0014,1KG_AMR_AF,OTOF
434109,2:26778620:A>G,NM_194248.2:c.79+2741T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,0.063,0.001,1KG_EAS_AF,OTOF
434110,2:26778628:C>T,NM_194248.2:c.79+2733G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.301,\N,\N,OTOF
434111,2:26778638:C>G,NM_194248.2:c.79+2723G>C,\N,\N,1/46,Benign,\N,intron_variant,3.368,0.5439,1KG_AFR_AF,OTOF
434112,2:26778653:C>T,NM_194248.2:c.79+2708G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.388,\N,\N,OTOF
434113,2:26778676:A>G,NM_194248.2:c.79+2685T>C,\N,\N,1/46,Benign,\N,intron_variant,1.732,0.1759,1KG_EUR_AF,OTOF
434114,2:26778695:G>A,NM_194248.2:c.79+2666C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,0.4,0.001,1KG_EUR_AF,OTOF
434115,2:26778729:C>T,NM_194248.2:c.79+2632G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.636,\N,\N,OTOF
434116,2:26778763:A>G,NM_194248.2:c.79+2598T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.039,\N,\N,OTOF
434117,2:26778793:T>C,NM_194248.2:c.79+2568A>G,\N,\N,1/46,Benign,\N,intron_variant,2.266,0.0164,1KG_SAS_AF,OTOF
434118,2:26778838:A>G,NM_194248.2:c.79+2523T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.641,\N,\N,OTOF
434119,2:26778874:C>G,NM_194248.2:c.79+2487G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.843,\N,\N,OTOF
434120,2:26778935:G>A,NM_194248.2:c.79+2426C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.349,0.002,1KG_EUR_AF,OTOF
434121,2:26778936:G>A,NM_194248.2:c.79+2425C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,8.238,\N,\N,OTOF
434122,2:26778990:G>T,NM_194248.2:c.79+2371C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.59,0.001,1KG_EAS_AF,OTOF
434123,2:26779052:G>T,NM_194248.2:c.79+2309C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.798,0.0008,1KG_AFR_AF,OTOF
434124,2:26779139:C>T,NM_194248.2:c.79+2222G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.822,0.001,1KG_EAS_AF,OTOF
434125,2:26779153:T>C,NM_194248.2:c.79+2208A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.153,\N,\N,OTOF
434126,2:26779168:T>C,NM_194248.2:c.79+2193A>G,\N,\N,1/46,Benign,\N,intron_variant,3.37,0.059,1KG_AFR_AF,OTOF
434127,2:26779173:C>T,NM_194248.2:c.79+2188G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.397,0.0014,1KG_AMR_AF,OTOF
434128,2:26779179:C>T,NM_194248.2:c.79+2182G>A,\N,\N,1/46,Benign,\N,intron_variant,0.511,0.0764,1KG_AFR_AF,OTOF
434129,2:26779191:A>G,NM_194248.2:c.79+2170T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,2.19,\N,\N,OTOF
434130,2:26779216:G>T,NM_194248.2:c.79+2145C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.538,0.001,1KG_EUR_AF,OTOF
434131,2:26779219:G>A,NM_194248.2:c.79+2142C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.505,\N,\N,OTOF
434132,2:26779255:C>T,NM_194248.2:c.79+2106G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.488,0.002,1KG_SAS_AF,OTOF
434133,2:26779271:C>T,NM_194248.2:c.79+2090G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.777,0.001,1KG_EAS_AF,OTOF
434134,2:26779388:G>A,NM_194248.2:c.79+1973C>T,\N,\N,1/46,Benign,\N,intron_variant,5.519,0.006,1KG_EUR_AF,OTOF
434135,2:26779404:C>G,NM_194248.2:c.79+1957G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,1.479,0.0008,1KG_AFR_AF,OTOF
434136,2:26779413:A>T,NM_194248.2:c.79+1948T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.035,\N,\N,OTOF
434137,2:26779423:A>G,NM_194248.2:c.79+1938T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.381,0.0023,1KG_AFR_AF,OTOF
434138,2:26779441:T>G,NM_194248.2:c.79+1920A>C,\N,\N,1/46,Benign,\N,intron_variant,2.769,0.006,1KG_EAS_AF,OTOF
434139,2:26779444:T>C,NM_194248.2:c.79+1917A>G,\N,\N,1/46,Benign,\N,intron_variant,3.893,0.0091,1KG_AFR_AF,OTOF
434140,2:26779482:G>C,NM_194248.2:c.79+1879C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.324,\N,\N,OTOF
434141,2:26779491:G>A,NM_194248.2:c.79+1870C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.248,0.0015,1KG_AFR_AF,OTOF
434142,2:26779517:G>C,NM_194248.2:c.79+1844C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.469,0.0008,1KG_AFR_AF,OTOF
434143,2:26779604:C>T,NM_194248.2:c.79+1757G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.566,\N,\N,OTOF
434144,2:26779605:G>A,NM_194248.2:c.79+1756C>T,\N,\N,1/46,Benign,\N,intron_variant,2.066,0.007,1KG_EUR_AF,OTOF
434145,2:26779608:A>G,NM_194248.2:c.79+1753T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.738,0.0014,1KG_AMR_AF,OTOF
434146,2:26779615:C>T,NM_194248.2:c.79+1746G>A,\N,\N,1/46,Benign,\N,intron_variant,0.952,0.0779,1KG_AFR_AF,OTOF
434147,2:26779616:G>C,NM_194248.2:c.79+1745C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.241,0.001,1KG_EAS_AF,OTOF
434148,2:26779617:C>T,NM_194248.2:c.79+1744G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.055,\N,\N,OTOF
434149,2:26779618:G>A,NM_194248.2:c.79+1743C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.138,0.001,1KG_EAS_AF,OTOF
434150,2:26779630:C>A,NM_194248.2:c.79+1731G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.875,\N,\N,OTOF
434151,2:26779632:C>A,NM_194248.2:c.79+1729G>T,\N,\N,1/46,Benign,\N,intron_variant,2.5,0.2088,1KG_AFR_AF,OTOF
434152,2:26779648:C>T,NM_194248.2:c.79+1713G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.489,0.0045,1KG_AFR_AF,OTOF
434153,2:26779657:AGTGGGCCT>A,NM_194248.2:c.79+1696_79+1703del,\N,\N,1/46,Unknown significance,\N,intron_variant,5.328,0.0043,1KG_AMR_AF,OTOF
434154,2:26779669:C>T,NM_194248.2:c.79+1692G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.408,0.001,1KG_SAS_AF,OTOF
434155,2:26779677:C>T,NM_194248.2:c.79+1684G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.247,0.001,1KG_EAS_AF,OTOF
434156,2:26779684:C>T,NM_194248.2:c.79+1677G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.333,0.0015,1KG_AFR_AF,OTOF
434157,2:26779711:C>T,NM_194248.2:c.79+1650G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.275,0.001,1KG_EAS_AF,OTOF
434158,2:26779715:C>A,NM_194248.2:c.79+1646G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.917,0.0014,1KG_AMR_AF,OTOF
434159,2:26779728:G>A,NM_194248.2:c.79+1633C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.234,\N,\N,OTOF
434160,2:26779736:C>T,NM_194248.2:c.79+1625G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.749,0.003,1KG_AFR_AF,OTOF
434161,2:26779746:C>T,NM_194248.2:c.79+1615G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.974,\N,\N,OTOF
434162,2:26779756:A>C,NM_194248.2:c.79+1605T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.446,0.0015,1KG_AFR_AF,OTOF
434163,2:26779814:T>C,NM_194248.2:c.79+1547A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.248,0.0008,1KG_AFR_AF,OTOF
434164,2:26779815:G>A,NM_194248.2:c.79+1546C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,8.079,0.001,1KG_SAS_AF,OTOF
434165,2:26779863:A>G,NM_194248.2:c.79+1498T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,5.874,\N,\N,OTOF
434166,2:26779930:G>A,NM_194248.2:c.79+1431C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.432,0.001,1KG_SAS_AF,OTOF
434167,2:26779949:G>A,NM_194248.2:c.79+1412C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.176,\N,\N,OTOF
434168,2:26779963:C>A,NM_194248.2:c.79+1398G>T,\N,\N,1/46,Benign,\N,intron_variant,6.053,0.008,1KG_EUR_AF,OTOF
434169,2:26779993:A>G,NM_194248.2:c.79+1368T>C,\N,\N,1/46,Benign,\N,intron_variant,1.974,0.0219,1KG_AFR_AF,OTOF
434170,2:26780003:C>T,NM_194248.2:c.79+1358G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.869,0.003,1KG_EAS_AF,OTOF
434171,2:26780020:G>C,NM_194248.2:c.79+1341C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.947,0.0014,1KG_AMR_AF,OTOF
434172,2:26780028:G>A,NM_194248.2:c.79+1333C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,9.405,0.0038,1KG_AFR_AF,OTOF
434173,2:26780038:G>A,NM_194248.2:c.79+1323C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,14.48,\N,\N,OTOF
434174,2:26780063:A>G,NM_194248.2:c.79+1298T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,3.065,0.0031,1KG_SAS_AF,OTOF
434175,2:26780066:G>A,NM_194248.2:c.79+1295C>T,\N,\N,1/46,Benign,\N,intron_variant,5.016,0.0204,1KG_AFR_AF,OTOF
434176,2:26780106:C>A,NM_194248.2:c.79+1255G>T,\N,\N,1/46,Benign,\N,intron_variant,3.967,0.175,1KG_EUR_AF,OTOF
434177,2:26780125:T>C,NM_194248.2:c.79+1236A>G,\N,\N,1/46,Unknown significance,\N,intron_variant,3.868,\N,\N,OTOF
434178,2:26780144:A>AG,NM_194248.2:c.79+1216dup,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434179,2:26780144:A>T,NM_194248.2:c.79+1217T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.069,\N,\N,OTOF
434180,2:26780145:G>A,NM_194248.2:c.79+1216C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.38,\N,\N,OTOF
434181,2:26780161:C>T,NM_194248.2:c.79+1200G>A,\N,\N,1/46,Benign,\N,intron_variant,2.456,0.0235,1KG_SAS_AF,OTOF
434182,2:26780179:T>C,NM_194248.2:c.79+1182A>G,\N,\N,1/46,Benign,\N,intron_variant,1.088,0.0228,1KG_EAS_AF,OTOF
434183,2:26780201:C>T,NM_194248.2:c.79+1160G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.133,\N,\N,OTOF
434184,2:26780207:C>T,NM_194248.2:c.79+1154G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,1.005,0.001,1KG_EAS_AF,OTOF
434185,2:26780208:G>A,NM_194248.2:c.79+1153C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.648,0.001,1KG_SAS_AF,OTOF
434186,2:26780208:G>C,NM_194248.2:c.79+1153C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.924,\N,\N,OTOF
434187,2:26780219:C>A,NM_194248.2:c.79+1142G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.76,\N,\N,OTOF
434188,2:26780227:A>C,NM_194248.2:c.79+1134T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,5.102,0.004,1KG_EUR_AF,OTOF
434189,2:26780235:G>A,NM_194248.2:c.79+1126C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.627,\N,\N,OTOF
434190,2:26780238:C>T,NM_194248.2:c.79+1123G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.417,\N,\N,OTOF
434191,2:26780241:C>T,NM_194248.2:c.79+1120G>A,\N,\N,1/46,Benign,\N,intron_variant,3.836,0.536,1KG_AMR_AF,OTOF
434192,2:26780256:G>A,NM_194248.2:c.79+1105C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.081,0.001,1KG_EAS_AF,OTOF
434193,2:26780283:G>T,NM_194248.2:c.79+1078C>A,\N,\N,1/46,Benign,\N,intron_variant,4.007,0.031,1KG_AFR_AF,OTOF
434194,2:26780295:G>C,NM_194248.2:c.79+1066C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.467,0.001,1KG_EAS_AF,OTOF
434195,2:26780297:A>T,NM_194248.2:c.79+1064T>A,\N,\N,1/46,Unknown significance,\N,intron_variant,4.549,0.001,1KG_EUR_AF,OTOF
434196,2:26780311:G>C,NM_194248.2:c.79+1050C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,6.181,\N,\N,OTOF
434197,2:26780330:A>C,NM_194248.2:c.79+1031T>G,\N,\N,1/46,Benign,\N,intron_variant,0.851,0.0068,1KG_AFR_AF,OTOF
434198,2:26780347:C>T,NM_194248.2:c.79+1014G>A,\N,\N,1/46,Benign,\N,intron_variant,2.198,0.0106,1KG_AFR_AF,OTOF
434199,2:26780348:G>A,NM_194248.2:c.79+1013C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.559,0.0008,1KG_AFR_AF,OTOF
434200,2:26780364:G>A,NM_194248.2:c.79+997C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.447,\N,\N,OTOF
434201,2:26780374:C>T,NM_194248.2:c.79+987G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,3.636,0.001,1KG_EAS_AF,OTOF
434202,2:26780375:G>A,NM_194248.2:c.79+986C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.803,0.001,1KG_EUR_AF,OTOF
434203,2:26780377:C>T,NM_194248.2:c.79+984G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.771,0.0015,1KG_AFR_AF,OTOF
434204,2:26780402:C>T,NM_194248.2:c.79+959G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,8.271,0.001,1KG_EAS_AF,OTOF
434205,2:26780413:G>A,NM_194248.2:c.79+948C>T,\N,\N,1/46,Benign,\N,intron_variant,2.919,0.0068,1KG_AFR_AF,OTOF
434206,2:26780422:C>T,NM_194248.2:c.79+939G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.004,\N,\N,OTOF
434207,2:26780427:C>T,NM_194248.2:c.79+934G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.185,\N,\N,OTOF
434208,2:26780505:C>G,NM_194248.2:c.79+856G>C,\N,\N,1/46,Benign,\N,intron_variant,0.853,0.999,1KG_EUR_AF,OTOF
434209,2:26780517:C>T,NM_194248.2:c.79+844G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,10.47,\N,\N,OTOF
434210,2:26780537:C>CAGGT,NM_194248.2:c.79+823_79+824insACCT,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434211,2:26780538:C>T,NM_194248.2:c.79+823G>A,\N,\N,1/46,Benign,\N,intron_variant,5.339,0.1855,1KG_EAS_AF,OTOF
434212,2:26780550:G>A,NM_194248.2:c.79+811C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,2.676,0.0029,1KG_AMR_AF,OTOF
434213,2:26780577:G>A,NM_194248.2:c.79+784C>T,\N,\N,1/46,Benign,\N,intron_variant,9.138,0.0072,1KG_SAS_AF,OTOF
434214,2:26780589:C>T,NM_194248.2:c.79+772G>A,\N,\N,1/46,Benign,\N,intron_variant,9.701,0.1796,1KG_EAS_AF,OTOF
434215,2:26780591:G>A,NM_194248.2:c.79+770C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,10.63,0.002,1KG_SAS_AF,OTOF
434216,2:26780603:C>T,NM_194248.2:c.79+758G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.314,0.0043,1KG_AMR_AF,OTOF
434217,2:26780608:C>T,NM_194248.2:c.79+753G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,5.671,0.0031,1KG_SAS_AF,OTOF
434218,2:26780617:G>A,NM_194248.2:c.79+744C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.065,0.0008,1KG_AFR_AF,OTOF
434219,2:26780655:T>TA,NM_194248.2:c.79+705_79+706insT,\N,\N,1/46,Unknown significance,\N,intron_variant,\N,\N,\N,OTOF
434220,2:26780686:CG>C,NM_194248.2:c.79+674del,\N,\N,1/46,Benign,\N,intron_variant,3.723,0.0461,1KG_AFR_AF,OTOF
434221,2:26780687:G>T,NM_194248.2:c.79+674C>A,\N,\N,1/46,Benign,\N,intron_variant,0.803,0.1796,1KG_EAS_AF,OTOF
434222,2:26780689:C>G,NM_194248.2:c.79+672G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,4.029,0.0041,1KG_SAS_AF,OTOF
434223,2:26780690:T>C,NM_194248.2:c.79+671A>G,\N,\N,1/46,Benign,\N,intron_variant,3.678,0.0184,1KG_SAS_AF,OTOF
434224,2:26780720:G>A,NM_194248.2:c.79+641C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.208,\N,\N,OTOF
434225,2:26780799:A>G,NM_194248.2:c.79+562T>C,\N,\N,1/46,Benign,\N,intron_variant,2.969,0.0484,1KG_AFR_AF,OTOF
434226,2:26780810:G>T,NM_194248.2:c.79+551C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,2.142,\N,\N,OTOF
434227,2:26780811:G>A,NM_194248.2:c.79+550C>T,\N,\N,1/46,Benign,\N,intron_variant,3.748,0.0098,1KG_AFR_AF,OTOF
434228,2:26780840:G>A,NM_194248.2:c.79+521C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,1.875,0.001,1KG_SAS_AF,OTOF
434229,2:26780851:G>A,NM_194248.2:c.79+510C>T,\N,\N,1/46,Benign,\N,intron_variant,4.105,0.6628,1KG_AMR_AF,OTOF
434230,2:26780894:C>T,NM_194248.2:c.79+467G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,10.76,0.0014,1KG_AMR_AF,OTOF
434231,2:26780898:C>T,NM_194248.2:c.79+463G>A,\N,\N,1/46,Benign,\N,intron_variant,11.21,0.0204,1KG_AFR_AF,OTOF
434232,2:26780930:C>G,NM_194248.2:c.79+431G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,8.477,0.004,1KG_EAS_AF,OTOF
434233,2:26780944:G>A,NM_194248.2:c.79+417C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,5.275,0.001,1KG_EAS_AF,OTOF
434234,2:26780956:GCC>G,NM_194248.2:c.79+403_79+404del,\N,\N,1/46,Unknown significance,\N,intron_variant,5.309,0.0038,1KG_AFR_AF,OTOF
434235,2:26780988:G>C,NM_194248.2:c.79+373C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,10.14,0.0015,1KG_AFR_AF,OTOF
434236,2:26780994:G>A,NM_194248.2:c.79+367C>T,\N,\N,1/46,Benign,\N,intron_variant,13.74,0.0149,1KG_EUR_AF,OTOF
434237,2:26781015:G>A,NM_194248.2:c.79+346C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,10.74,\N,\N,OTOF
434238,2:26781098:C>G,NM_194248.2:c.79+263G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,7.353,0.002,1KG_SAS_AF,OTOF
434239,2:26781111:G>A,NM_194248.2:c.79+250C>T,\N,\N,1/46,Benign,\N,intron_variant,1.689,0.118,1KG_AFR_AF,OTOF
434240,2:26781114:G>A,NM_194248.2:c.79+247C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.942,0.001,1KG_EUR_AF|1KG_SAS_AF,OTOF
434241,2:26781159:C>G,NM_194248.2:c.79+202G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.439,0.0008,1KG_AFR_AF,OTOF
434242,2:26781164:G>T,NM_194248.2:c.79+197C>A,\N,\N,1/46,Unknown significance,\N,intron_variant,0.908,0.001,1KG_EUR_AF,OTOF
434243,2:26781194:A>C,NM_194248.2:c.79+167T>G,\N,\N,1/46,Unknown significance,\N,intron_variant,2.276,0.001,1KG_EAS_AF,OTOF
434244,2:26781218:C>T,NM_194248.2:c.79+143G>A,\N,\N,1/46,Benign,\N,intron_variant,6.771,0.0121,1KG_AFR_AF,OTOF
434245,2:26781226:A>G,NM_194248.2:c.79+135T>C,\N,\N,1/46,Unknown significance,\N,intron_variant,6.425,0.001,1KG_EUR_AF,OTOF
434246,2:26781229:C>G,NM_194248.2:c.79+132G>C,\N,\N,1/46,Unknown significance,\N,intron_variant,8.355,0.0008,1KG_AFR_AF,OTOF
434247,2:26781231:C>T,NM_194248.2:c.79+130G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.074,0.0023,1KG_AFR_AF,OTOF
434248,2:26781232:G>C,NM_194248.2:c.79+129C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,0.062,\N,\N,OTOF
434249,2:26781235:G>A,NM_194248.2:c.79+126C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,3.886,0.0031,1KG_SAS_AF,OTOF
434250,2:26781247:G>C,NM_194248.2:c.79+114C>G,\N,\N,1/46,Benign,\N,intron_variant,13.45,0.5159,1KG_AMR_AF,OTOF
434251,2:26781261:C>T,NM_194248.2:c.79+100G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,7.318,0.002,1KG_EUR_AF,OTOF
434252,2:26781311:C>A,NM_194248.2:c.79+50G>T,\N,\N,1/46,Unknown significance,\N,intron_variant,7.401,0.00221729,EXAC_OTH_AF,OTOF
434253,2:26781314:G>C,NM_194248.2:c.79+47C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,1.915,0.0000601016,EXAC_NFE_AF,OTOF
434254,2:26781322:C>T,NM_194248.2:c.79+39G>A,\N,\N,1/46,Unknown significance,\N,intron_variant,6.146,\N,\N,OTOF
434255,2:26781326:G>A,NM_194248.2:c.79+35C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,9.643,0.0000150267,EXAC_NFE_AF,OTOF
434256,2:26781332:GCGT>G,NM_194248.2:c.79+26_79+28del,\N,\N,1/46,Unknown significance,\N,intron_variant,5.741,0.0000300535,EXAC_NFE_AF,OTOF
434257,2:26781333:C>T,NM_194248.2:c.79+28G>A,\N,\N,1/46,Benign,\N,intron_variant,6.747,0.0144,1KG_AFR_AF,OTOF
434258,2:26781334:G>A,NM_194248.2:c.79+27C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,4.996,0.000347142,EXAC_EAS_AF,OTOF
434259,2:26781349:C>T,NM_194248.2:c.79+12G>A,\N,\N,1/46,Likely benign,\N,intron_variant,8.323,0.0029,1KG_AMR_AF,OTOF
434260,2:26781350:G>A,NM_194248.2:c.79+11C>T,\N,\N,1/46,Unknown significance,\N,intron_variant,8.513,0.000432003,EXAC_AMR_AF,OTOF
434261,2:26781350:G>C,NM_194248.2:c.79+11C>G,\N,\N,1/46,Unknown significance,\N,intron_variant,6.013,0.0000450613,EXAC_NFE_AF,OTOF
434262,2:26781355:C>T,NM_194248.2:c.79+6G>A,\N,\N,1/46,Unknown significance,\N,splice_region_variant&intron_variant,13.09,\N,\N,OTOF
434263,2:26781359:A>C,NM_194248.2:c.79+2T>G,\N,\N,1/46,Unknown significance,\N,splice_donor_variant,25.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434264,2:26781360:C>T,NM_194248.2:c.79+1G>A,\N,\N,1/46,Unknown significance,\N,splice_donor_variant,27.7,\N,\N,OTOF
434265,2:26781363:C>T,NM_194248.2:c.77G>A,NP_919224.1:p.Arg26Gln,1/47,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.0000605694,EXAC_SAS_AF,OTOF
434266,2:26781364:G>A,NM_194248.2:c.76C>T,NP_919224.1:p.Arg26Ter,1/47,\N,Unknown significance,\N,stop_gained,38,0.000226963,EVS_AA_AF,OTOF
434267,2:26781372:A>C,NM_194248.2:c.68T>G,NP_919224.1:p.Val23Gly,1/47,\N,Unknown significance,\N,missense_variant,26.3,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434268,2:26781379:C>T,NM_194248.2:c.61G>A,NP_919224.1:p.Ala21Thr,1/47,\N,Unknown significance,\N,missense_variant,27.4,0.000015029,EXAC_NFE_AF,OTOF
434269,2:26781380:G>A,NM_194248.2:c.60C>T,NP_919224.1:p.Ile20=,1/47,\N,Unknown significance,\N,synonymous_variant,16.64,0.0000605767,EXAC_SAS_AF,OTOF
434270,2:26781384:C>T,NM_194248.2:c.56G>A,NP_919224.1:p.Arg19Gln,1/47,\N,Unknown significance,\N,missense_variant,35,0.0008,1KG_AFR_AF,OTOF
434271,2:26781385:G>A,NM_194248.2:c.55C>T,NP_919224.1:p.Arg19Trp,1/47,\N,Unknown significance,\N,missense_variant,34,0.000172831,EXAC_AMR_AF,OTOF
434272,2:26781386:G>A,NM_194248.2:c.54C>T,NP_919224.1:p.Asp18=,1/47,\N,Unknown significance,\N,synonymous_variant,9.258,0.000015029,EXAC_NFE_AF,OTOF
434273,2:26781388:C>T,NM_001287489.1:c.52G>A,NP_001274418.1:p.Asp18Asn,1/46,\N,Unknown significance,\N,missense_variant,32,0.000226963,EVS_AA_AF,OTOF
434274,2:26781389:G>A,NM_194248.2:c.51C>T,NP_919224.1:p.Gly17=,1/47,\N,Benign,\N,synonymous_variant,11.58,0.0098,1KG_AFR_AF,OTOF
434275,2:26781396:C>T,NM_001287489.1:c.44G>A,NP_001274418.1:p.Gly15Asp,1/46,\N,Unknown significance,\N,missense_variant,26.3,0.000226963,EVS_AA_AF,OTOF
434276,2:26781398:C>T,NM_194248.2:c.42G>A,NP_919224.1:p.Arg14=,1/47,\N,Benign,\N,synonymous_variant,16.01,0.0129,1KG_AFR_AF,OTOF
434277,2:26781399:C>T,NM_194248.2:c.41G>A,NP_919224.1:p.Arg14Gln,1/47,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,OTOF
434278,2:26781400:G>A,NM_194248.2:c.40C>T,NP_919224.1:p.Arg14Trp,1/47,\N,Unknown significance,\N,missense_variant,34,0.000424037,EXAC_SAS_AF,OTOF
434279,2:26781403:G>A,NM_194248.2:c.37C>T,NP_919224.1:p.Leu13=,1/47,\N,Benign,\N,synonymous_variant,12.32,0.00817068,EVS_AA_AF,OTOF
434280,2:26781407:C>T,NM_194248.2:c.33G>A,NP_919224.1:p.Ser11=,1/47,\N,Unknown significance,\N,synonymous_variant,19.79,0.000231642,EXAC_EAS_AF,OTOF
434281,2:26781408:G>A,NM_194248.2:c.32C>T,NP_919224.1:p.Ser11Leu,1/47,\N,Unknown significance,\N,missense_variant,24.1,0.0008,1KG_AFR_AF,OTOF
434282,2:26781408:G>T,NM_194248.2:c.32C>A,NP_919224.1:p.Ser11Ter,1/47,\N,Unknown significance,\N,stop_gained,39,0.0000752083,EXAC_NFE_AF,OTOF
434283,2:26781415:T>C,NM_194248.2:c.25A>G,NP_919224.1:p.Thr9Ala,1/47,\N,Unknown significance,\N,missense_variant,18.18,0.0000150462,EXAC_NFE_AF,OTOF
434284,2:26781419:G>T,NM_194248.2:c.21C>A,NP_919224.1:p.Leu7=,1/47,\N,Unknown significance,\N,synonymous_variant,10.09,0.0000150485,EXAC_NFE_AF,OTOF
434285,2:26781421:G>A,NM_194248.2:c.19C>T,NP_919224.1:p.Leu7Phe,1/47,\N,Unknown significance,\N,missense_variant,26.9,0.0000150489,EXAC_NFE_AF,OTOF
434286,2:26781421:G>GACT,NM_194248.2:c.18_19insAGT,NP_919224.1:p.His6_Leu7insSer,1/47,\N,Unknown significance,\N,inframe_insertion,17.4,0.0000966931,EXAC_AFR_AF,OTOF
434287,2:26781423:TG>T,NM_194248.2:c.16del,NP_919224.1:p.His6ThrfsTer18,1/47,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,OTOF
434288,2:26781423:T>G,NM_194248.2:c.17A>C,NP_919224.1:p.His6Pro,1/47,\N,Unknown significance,\N,missense_variant,23.9,0.003125,OTO_US_AF,OTOF
434289,2:26781425:G>C,NM_194248.2:c.15C>G,NP_919224.1:p.Ile5Met,1/47,\N,Likely benign,\N,missense_variant,21.5,\N,\N,OTOF
434290,2:26781425:G>A,NM_194248.2:c.15C>T,NP_919224.1:p.Ile5=,1/47,\N,Unknown significance,\N,synonymous_variant,13.48,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434291,2:26781427:T>A,NM_194248.2:c.13A>T,NP_919224.1:p.Ile5Phe,1/47,\N,Unknown significance,\N,missense_variant,23.6,0.0000605767,EXAC_SAS_AF,OTOF
434292,2:26781430:G>A,NM_194248.2:c.10C>T,NP_919224.1:p.Leu4Phe,1/47,\N,Likely benign,\N,missense_variant,13.89,0.000096918,EXAC_AFR_AF,OTOF
434293,2:26781431:C>T,NM_194248.2:c.9G>A,NP_919224.1:p.Leu3=,1/47,\N,Unknown significance,\N,synonymous_variant,15.01,0.0000865801,EXAC_AMR_AF,OTOF
434294,2:26781437:C>T,NM_001287489.1:c.3G>A,NP_001274418.1:p.Met1?,1/46,\N,Unknown significance,\N,start_lost,24.9,0.0000150816,EXAC_NFE_AF,OTOF
434295,2:26781440:G>T,NM_194248.2:c.-1C>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,19.75,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434296,2:26781459:C>T,NM_194248.2:c.-20G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,12.81,0.000102124,EXAC_AFR_AF,OTOF
434297,2:26781464:C>A,NM_194248.2:c.-25G>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,12.81,0.0000309473,EXAC_NFE_AF,OTOF
434298,2:26781465:C>G,NM_194248.2:c.-26G>C,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,12.9,0.000307314,EXAC_FIN_AF,OTOF
434299,2:26781474:G>A,NM_194248.2:c.-35C>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,8.419,0.000262192,EXAC_AMR_AF,OTOF
434300,2:26781475:C>G,NM_194248.2:c.-36G>C,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,8.958,0.0000873057,EXAC_AMR_AF,OTOF
434301,2:26781477:G>A,NM_194248.2:c.-38C>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,7.771,0.000237304,EXAC_EAS_AF,OTOF
434302,2:26781478:C>G,NM_194248.2:c.-39G>C,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,7.499,0.000103157,EXAC_AFR_AF,OTOF
434303,2:26781478:C>T,NM_194248.2:c.-39G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,8.543,0.00159091,EVS_AA_AF,OTOF
434304,2:26781479:G>A,NM_194248.2:c.-40C>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,3.164,0.00225225,EXAC_OTH_AF,OTOF
434305,2:26781480:G>C,NM_194248.2:c.-41C>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,4.429,\N,\N,OTOF
434306,2:26781482:A>T,NM_194248.2:c.-43T>A,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,6.186,0.0058,1KG_AMR_AF,OTOF
434307,2:26781489:T>C,NM_194248.2:c.-50A>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,6.851,0.000139769,EXAC_NFE_AF,OTOF
434308,2:26781493:C>T,NM_194248.2:c.-54G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,1.788,0.001,1KG_SAS_AF,OTOF
434309,2:26781496:T>G,NM_194248.2:c.-57A>C,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,6.962,0.005,OTO_TR_AF,OTOF
434310,2:26781502:A>C,NM_194248.2:c.-63T>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,2.82,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434311,2:26781503:C>T,NM_194248.2:c.-64G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,7.266,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434312,2:26781506:C>T,NM_194248.2:c.-67G>A,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,7.661,0.0582,1KG_AFR_AF,OTOF
434313,2:26781509:A>C,NM_194248.2:c.-70T>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,8.99,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434314,2:26781512:C>T,NM_194248.2:c.-73G>A,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,20.5,0.0225,1KG_SAS_AF,OTOF
434315,2:26781528:G>A,NM_194248.2:c.-89C>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,12.45,0.0008,1KG_AFR_AF,OTOF
434316,2:26781530:C>T,NM_194248.2:c.-91G>A,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,1.958,0.0061,1KG_AFR_AF,OTOF
434317,2:26781539:C>T,NM_194248.2:c.-100G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,10.75,0.001,1KG_EAS_AF,OTOF
434318,2:26781541:C>T,NM_194248.2:c.-102G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,10.98,0.0014,1KG_AMR_AF,OTOF
434319,2:26781546:T>C,NM_194248.2:c.-107A>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,9.064,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434320,2:26781549:T>C,NM_194248.2:c.-110A>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,10.75,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434321,2:26781552:C>T,NM_194248.2:c.-113G>A,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,10.75,0.0461,1KG_AFR_AF,OTOF
434322,2:26781554:A>C,NM_194248.2:c.-115T>G,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,9.991,0.04,OTO_TR_AF,OTOF
434323,2:26781559:C>A,NM_194248.2:c.-120G>T,\N,1/47,\N,Benign,\N,5_prime_UTR_variant,13.21,0.084,1KG_AFR_AF,OTOF
434324,2:26781561:T>C,NM_194248.2:c.-122A>G,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,11.39,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,OTOF
434325,2:26781563:C>T,NM_194248.2:c.-124G>A,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,10.73,0.0008,1KG_AFR_AF,OTOF
434326,2:26781564:G>A,NM_194248.2:c.-125C>T,\N,1/47,\N,Unknown significance,\N,5_prime_UTR_variant,13.61,\N,\N,OTO