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
390417,16:75661649:T>A,NM_001130089.1:c.*144A>T,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,0.403,0.0008,1KG_AFR_AF,KARS
390418,16:75661702:G>A,NM_001130089.1:c.*91C>T,\N,15/15,\N,Benign,\N,3_prime_UTR_variant,7.369,0.0123,1KG_SAS_AF,KARS
390419,16:75661734:C>T,NM_001130089.1:c.*59G>A,\N,15/15,\N,Benign,\N,3_prime_UTR_variant,11.11,0.0507,1KG_AFR_AF,KARS
390420,16:75661753:GCAAAGACGC>G,NM_001130089.1:c.*31_*39del,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,8.915,0.0000867002,EXAC_AMR_AF,KARS
390421,16:75661754:C>G,NM_001130089.1:c.*39G>C,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,7.179,0.0000150295,EXAC_NFE_AF,KARS
390422,16:75661755:A>G,NM_001130089.1:c.*38T>C,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,6.35,\N,\N,KARS
390423,16:75661757:A>C,NM_001130089.1:c.*36T>G,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,0.208,0.0000300427,EXAC_NFE_AF,KARS
390424,16:75661760:C>G,NM_001130089.1:c.*33G>C,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,3.164,\N,\N,KARS
390425,16:75661760:C>T,NM_001130089.1:c.*33G>A,\N,15/15,\N,Benign,\N,3_prime_UTR_variant,5.784,0.035,EXAC_FIN_AF,KARS
390426,16:75661761:G>A,NM_001130089.1:c.*32C>T,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,7.261,0.000015015,EXAC_NFE_AF,KARS
390427,16:75661762:CCT>C,NM_001130089.1:c.*29_*30del,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,7.04,\N,\N,KARS
390428,16:75661767:G>A,NM_001130089.1:c.*26C>T,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,4.626,0.000242277,EXAC_SAS_AF,KARS
390429,16:75661767:G>C,NM_001130089.1:c.*26C>G,\N,15/15,\N,Benign,\N,3_prime_UTR_variant,1.65,0.0349894,EXAC_FIN_AF,KARS
390430,16:75661768:T>TTGTA,NM_001130089.1:c.*24_*25insTACA,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,4.153,\N,\N,KARS
390431,16:75661769:T>C,NM_001130089.1:c.*24A>G,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,2.273,0.0000605694,EXAC_SAS_AF,KARS
390432,16:75661771:T>C,NM_001130089.1:c.*22A>G,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,3.512,0.000232558,EVS_EA_AF,KARS
390433,16:75661772:A>G,NM_001130089.1:c.*21T>C,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,3.442,0.000808875,EXAC_EAS_AF,KARS
390434,16:75661776:C>T,NM_001130089.1:c.*17G>A,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,6.782,0.000518762,EXAC_AMR_AF,KARS
390435,16:75661792:T>C,NM_001130089.1:c.*1A>G,\N,15/15,\N,Unknown significance,\N,3_prime_UTR_variant,16.02,0.000242277,EXAC_SAS_AF,KARS
390436,16:75661793:C>T,NM_001130089.1:c.1878G>A,NP_001123561.1:p.Ter626=,15/15,\N,Unknown significance,\N,stop_retained_variant,19.07,0.000693321,EXAC_EAS_AF,KARS
390437,16:75661797:AC>A,NM_001130089.1:c.1873del,NP_001123561.1:p.Val625SerfsTer4,15/15,\N,Unknown significance,\N,frameshift_variant,35,0.0000962835,EXAC_AFR_AF,KARS
390438,16:75661803:G>C,NM_001130089.1:c.1868C>G,NP_001123561.1:p.Thr623Ser,15/15,\N,Benign,\N,missense_variant,23.3,0.357,1KG_AFR_AF,KARS
390439,16:75661805:G>A,NM_001130089.1:c.1866C>T,NP_001123561.1:p.Gly622=,15/15,\N,Benign,\N,synonymous_variant,10.16,0.00681766,EXAC_EAS_AF,KARS
390440,16:75661810:C>A,NM_001130089.1:c.1861G>T,NP_001123561.1:p.Val621Phe,15/15,\N,Likely benign,\N,missense_variant,13.68,0.0008,1KG_AFR_AF,KARS
390441,16:75661825:G>A,NM_001130089.1:c.1846C>T,NP_001123561.1:p.Leu616=,15/15,\N,Unknown significance,\N,synonymous_variant,4.42,0.000115554,EXAC_EAS_AF,KARS
390442,16:75661826:TG>T,NM_001130089.1:c.1844del,NP_001123561.1:p.Thr615AsnfsTer14,15/15,\N,Unknown significance,\N,frameshift_variant,25.6,0.000192345,EXAC_AFR_AF,KARS
390443,16:75661827:G>T,NM_001130089.1:c.1844C>A,NP_001123561.1:p.Thr615Lys,15/15,\N,Likely benign,\N,missense_variant,0.159,0.000121139,EXAC_SAS_AF,KARS
390444,16:75661833:G>A,NM_001130089.1:c.1838C>T,NP_001123561.1:p.Thr613Ile,15/15,\N,Unknown significance,\N,missense_variant,10.75,\N,\N,KARS
390445,16:75661835:G>C,NM_001130089.1:c.1836C>G,NP_001123561.1:p.Thr612=,15/15,\N,Unknown significance,\N,synonymous_variant,0.666,0.000232558,EVS_EA_AF,KARS
390446,16:75661838:T>C,NM_001130089.1:c.1833A>G,NP_001123561.1:p.Ala611=,15/15,\N,Unknown significance,\N,synonymous_variant,0.279,0.000115554,EXAC_EAS_AF,KARS
390447,16:75661841:T>C,NM_001130089.1:c.1830A>G,NP_001123561.1:p.Val610=,15/15,\N,Unknown significance,\N,synonymous_variant,0.292,0.000172741,EXAC_AMR_AF,KARS
390448,16:75661842:A>G,NM_001130089.1:c.1829T>C,NP_001123561.1:p.Val610Ala,15/15,\N,Likely benign,\N,missense_variant,0.004,0.0000961723,EXAC_AFR_AF,KARS
390449,16:75661842:A>T,NM_001130089.1:c.1829T>A,NP_001123561.1:p.Val610Glu,15/15,\N,Likely benign,\N,missense_variant,0.019,0.000172741,EXAC_AMR_AF,KARS
390450,16:75661845:T>G,NM_001130089.1:c.1826A>C,NP_001123561.1:p.Asn609Thr,15/15,\N,Likely benign,\N,missense_variant,0.259,0.001,1KG_EUR_AF,KARS
390451,16:75661847:C>T,NM_001130089.1:c.1824G>A,NP_001123561.1:p.Glu608=,15/15,\N,Unknown significance,\N,synonymous_variant,9.496,0.0000605694,EXAC_SAS_AF,KARS
390452,16:75661849:CCTT>C,NM_001130089.1:c.1819_1821del,NP_001123561.1:p.Lys607del,15/15,\N,Unknown significance,\N,inframe_deletion,19.34,0.0000899146,EXAC_NFE_AF,KARS
390453,16:75661851:TTCTTG>T,NM_001130089.1:c.1815_1819del,NP_001123561.1:p.Asp605GlufsTer8,15/15,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,KARS
390454,16:75661853:C>G,NM_001130089.1:c.1818G>C,NP_001123561.1:p.Lys606Asn,15/15,\N,Likely benign,\N,missense_variant,21.5,0.000232558,EVS_EA_AF,KARS
390455,16:75661862:G>A,NM_001130089.1:c.1809C>T,NP_001123561.1:p.Pro603=,15/15,\N,Unknown significance,\N,synonymous_variant,14.5,0.0032355,EXAC_EAS_AF,KARS
390456,16:75661863:G>C,NM_001130089.1:c.1808C>G,NP_001123561.1:p.Pro603Arg,15/15,\N,Unknown significance,\N,missense_variant,29.4,0.000232558,EVS_EA_AF,KARS
390457,16:75661865:T>C,NM_001130089.1:c.1806A>G,NP_001123561.1:p.Lys602=,15/15,\N,Unknown significance,\N,synonymous_variant,9.075,0.0000961908,EXAC_AFR_AF,KARS
390458,16:75661871:G>A,NM_001130089.1:c.1800C>T,NP_001123561.1:p.Ala600=,15/15,\N,Unknown significance,\N,synonymous_variant,13.31,0.0000299724,EXAC_NFE_AF,KARS
390459,16:75661872:G>A,NM_005548.2:c.1715C>T,NP_005539.1:p.Ala572Val,14/14,\N,Unknown significance,\N,missense_variant,34,0.0000299724,EXAC_NFE_AF,KARS
390460,16:75661875:G>A,NM_001130089.1:c.1796C>T,NP_001123561.1:p.Pro599Leu,15/15,\N,Unknown significance,\N,missense_variant,34,\N,\N,KARS
390461,16:75661877:A>G,NM_001130089.1:c.1794T>C,NP_001123561.1:p.Phe598=,15/15,\N,Unknown significance,\N,synonymous_variant,9.9,\N,\N,KARS
390462,16:75661880:C>G,NM_001130089.1:c.1791G>C,NP_001123561.1:p.Leu597=,15/15,\N,Unknown significance,\N,synonymous_variant,14.25,0.0000863856,EXAC_AMR_AF,KARS
390463,16:75661883:A>T,NM_001130089.1:c.1788T>A,NP_001123561.1:p.Leu596=,15/15,\N,Unknown significance,\N,synonymous_variant,0.169,0.001,1KG_SAS_AF,KARS
390464,16:75661885:G>A,NM_001130089.1:c.1786C>T,NP_001123561.1:p.Leu596Phe,15/15,\N,Unknown significance,\N,missense_variant,31,0.000115554,EXAC_EAS_AF,KARS
390465,16:75661898:G>T,NM_001130089.1:c.1780-7C>A,\N,\N,14/14,Unknown significance,\N,splice_region_variant&intron_variant,1.397,0.00022748,EVS_AA_AF,KARS
390466,16:75661900:G>A,NM_001130089.1:c.1780-9C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,6.733,0.0000149934,EXAC_NFE_AF,KARS
390467,16:75661903:A>G,NM_001130089.1:c.1780-12T>C,\N,\N,14/14,Unknown significance,\N,intron_variant,4.68,0.00022748,EVS_AA_AF,KARS
390468,16:75661905:G>T,NM_001130089.1:c.1780-14C>A,\N,\N,14/14,Unknown significance,\N,intron_variant,0.865,0.0000149948,EXAC_NFE_AF,KARS
390469,16:75661908:T>C,NM_001130089.1:c.1780-17A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.736,0.0000149957,EXAC_NFE_AF,KARS
390470,16:75661910:T>C,NM_001130089.1:c.1780-19A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.257,0.000151515,EXAC_FIN_AF,KARS
390471,16:75661912:C>T,NM_001130089.1:c.1780-21G>A,\N,\N,14/14,Benign,\N,intron_variant,5.311,0.0086,1KG_AMR_AF,KARS
390472,16:75661918:A>G,NM_001130089.1:c.1780-27T>C,\N,\N,14/14,Unknown significance,\N,intron_variant,4.815,0.000116279,EVS_EA_AF,KARS
390473,16:75661929:ACT>A,NM_001130089.1:c.1780-40_1780-39del,\N,\N,14/14,Unknown significance,\N,intron_variant,8.161,\N,\N,KARS
390474,16:75661938:A>AT,NM_001130089.1:c.1780-48dup,\N,\N,14/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390475,16:75661976:T>C,NM_001130089.1:c.1780-85A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.806,\N,\N,KARS
390476,16:75661991:T>C,NM_001130089.1:c.1780-100A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.956,0.0029,1KG_AMR_AF,KARS
390477,16:75662024:CAT>C,NM_001130089.1:c.1780-135_1780-134del,\N,\N,14/14,Benign,\N,intron_variant,6.476,0.0098,1KG_AFR_AF,KARS
390478,16:75662027:G>A,NM_001130089.1:c.1780-136C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,3.026,0.0008,1KG_AFR_AF,KARS
390479,16:75662122:G>C,NM_001130089.1:c.1780-231C>G,\N,\N,14/14,Benign,\N,intron_variant,0.429,0.0113,1KG_AFR_AF,KARS
390480,16:75662124:C>T,NM_001130089.1:c.1780-233G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,2.187,\N,\N,KARS
390481,16:75662125:G>A,NM_001130089.1:c.1780-234C>T,\N,\N,14/14,Benign,\N,intron_variant,0.555,0.0151,1KG_AFR_AF,KARS
390482,16:75662129:T>G,NM_001130089.1:c.1780-238A>C,\N,\N,14/14,Benign,\N,intron_variant,2.335,0.0101,1KG_AMR_AF,KARS
390483,16:75662141:T>C,NM_001130089.1:c.1780-250A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.874,0.0008,1KG_AFR_AF,KARS
390484,16:75662143:G>C,NM_001130089.1:c.1780-252C>G,\N,\N,14/14,Benign,\N,intron_variant,1.691,0.0101,1KG_AMR_AF,KARS
390485,16:75662168:A>C,NM_001130089.1:c.1780-277T>G,\N,\N,14/14,Unknown significance,\N,intron_variant,2.191,0.001,1KG_SAS_AF,KARS
390486,16:75662182:C>T,NM_001130089.1:c.1779+285G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,2.568,\N,\N,KARS
390487,16:75662187:C>G,NM_001130089.1:c.1779+280G>C,\N,\N,14/14,Unknown significance,\N,intron_variant,3.438,\N,\N,KARS
390488,16:75662187:C>T,NM_001130089.1:c.1779+280G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,6.126,\N,\N,KARS
390489,16:75662188:A>C,NM_001130089.1:c.1779+279T>G,\N,\N,14/14,Unknown significance,\N,intron_variant,0.995,0.0015,1KG_AFR_AF,KARS
390490,16:75662209:GA>G,NM_001130089.1:c.1779+257del,\N,\N,14/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390491,16:75662220:C>T,NM_001130089.1:c.1779+247G>A,\N,\N,14/14,Benign,\N,intron_variant,0.065,0.4032,1KG_AFR_AF,KARS
390492,16:75662221:G>A,NM_001130089.1:c.1779+246C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,4.826,\N,\N,KARS
390493,16:75662279:AG>A,NM_001130089.1:c.1779+187del,\N,\N,14/14,Benign,\N,intron_variant,2.002,0.0885,1KG_AFR_AF,KARS
390494,16:75662281:G>GA,NM_001130089.1:c.1779+185dup,\N,\N,14/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390495,16:75662287:A>AC,NM_001130089.1:c.1779+179dup,\N,\N,14/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390496,16:75662304:T>C,NM_001130089.1:c.1779+163A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,5.808,0.004,1KG_EAS_AF,KARS
390497,16:75662317:C>T,NM_001130089.1:c.1779+150G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,7.839,0.001,1KG_SAS_AF,KARS
390498,16:75662342:C>G,NM_001130089.1:c.1779+125G>C,\N,\N,14/14,Unknown significance,\N,intron_variant,7.555,0.001,1KG_SAS_AF,KARS
390499,16:75662360:C>G,NM_001130089.1:c.1779+107G>C,\N,\N,14/14,Unknown significance,\N,intron_variant,1.658,0.0014,1KG_AMR_AF,KARS
390500,16:75662362:A>G,NM_001130089.1:c.1779+105T>C,\N,\N,14/14,Unknown significance,\N,intron_variant,4.913,0.0008,1KG_AFR_AF,KARS
390501,16:75662416:A>G,NM_001130089.1:c.1779+51T>C,\N,\N,14/14,Unknown significance,\N,intron_variant,8.437,0.0000150002,EXAC_NFE_AF,KARS
390502,16:75662422:T>C,NM_001130089.1:c.1779+45A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,6.376,0.0000605987,EXAC_SAS_AF,KARS
390503,16:75662427:C>G,NM_001130089.1:c.1779+40G>C,\N,\N,14/14,Unknown significance,\N,intron_variant,2.846,0.0000867152,EXAC_AMR_AF,KARS
390504,16:75662427:C>T,NM_001130089.1:c.1779+40G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,4.36,0.000196155,EXAC_AFR_AF,KARS
390505,16:75662430:C>T,NM_001130089.1:c.1779+37G>A,\N,\N,14/14,Unknown significance,\N,intron_variant,6.54,0.002,1KG_SAS_AF,KARS
390506,16:75662433:CAGGA>C,NM_001130089.1:c.1779+30_1779+33del,\N,\N,14/14,Unknown significance,\N,intron_variant,7.377,\N,\N,KARS
390507,16:75662435:G>A,NM_001130089.1:c.1779+32C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,5.697,0.0000605914,EXAC_SAS_AF,KARS
390508,16:75662436:G>A,NM_001130089.1:c.1779+31C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,5.756,0.000151745,EXAC_FIN_AF,KARS
390509,16:75662442:TGC>T,NM_001130089.1:c.1779+23_1779+24del,\N,\N,14/14,Unknown significance,\N,intron_variant,7.753,0.0000149916,EXAC_NFE_AF,KARS
390510,16:75662442:T>C,NM_001130089.1:c.1779+25A>G,\N,\N,14/14,Unknown significance,\N,intron_variant,5.917,0.0000149916,EXAC_NFE_AF,KARS
390511,16:75662451:G>A,NM_001130089.1:c.1779+16C>T,\N,\N,14/14,Unknown significance,\N,intron_variant,5.423,0.0000970309,EXAC_AFR_AF,KARS
390512,16:75662459:C>T,NM_001130089.1:c.1779+8G>A,\N,\N,14/14,Unknown significance,\N,splice_region_variant&intron_variant,8.83,0.000758035,EXAC_FIN_AF,KARS
390513,16:75662462:C>T,NM_001130089.1:c.1779+5G>A,\N,\N,14/14,Unknown significance,\N,splice_region_variant&intron_variant,5.027,0.000363504,EXAC_SAS_AF,KARS
390514,16:75662463:G>A,NM_001130089.1:c.1779+4C>T,\N,\N,14/14,Unknown significance,\N,splice_region_variant&intron_variant,5.916,0.000346661,EXAC_EAS_AF,KARS
390515,16:75662466:C>A,NM_001130089.1:c.1779+1G>T,\N,\N,14/14,Unknown significance,\N,splice_donor_variant,26.8,0.000060584,EXAC_SAS_AF,KARS
390516,16:75662468:T>C,NM_005548.2:c.1694A>G,NP_005539.1:p.Lys565Arg,13/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.1,0.0000149912,EXAC_NFE_AF,KARS
390517,16:75662474:T>A,NM_001130089.1:c.1772A>T,NP_001123561.1:p.Asn591Ile,14/15,\N,Unknown significance,\N,missense_variant,28.9,0.0000299859,EXAC_NFE_AF,KARS
390518,16:75662475:T>G,NM_005548.2:c.1687A>C,NP_005539.1:p.Asn563His,13/14,\N,Unknown significance,\N,missense_variant,26.9,0.000116279,EVS_EA_AF,KARS
390519,16:75662477:T>C,NM_001130089.1:c.1769A>G,NP_001123561.1:p.Asn590Ser,14/15,\N,Unknown significance,\N,missense_variant,16.79,0.000115554,EXAC_EAS_AF,KARS
390520,16:75662480:G>C,NM_001130089.1:c.1766C>G,NP_001123561.1:p.Ser589Cys,14/15,\N,Unknown significance,\N,missense_variant,28.2,0.000115554,EXAC_EAS_AF,KARS
390521,16:75662485:C>A,NM_001130089.1:c.1761G>T,NP_001123561.1:p.Thr587=,14/15,\N,Unknown significance,\N,synonymous_variant,19.08,0.0000149921,EXAC_NFE_AF,KARS
390522,16:75662486:G>A,NM_001130089.1:c.1760C>T,NP_001123561.1:p.Thr587Met,14/15,\N,Pathogenic,Development delay| hypotonia & ophthalmoplegia,missense_variant,34,0.000259426,EXAC_AMR_AF,KARS
390523,16:75662488:G>A,NM_001130089.1:c.1758C>T,NP_001123561.1:p.Leu586=,14/15,\N,Benign,\N,synonymous_variant,9.227,0.00759908,EXAC_AFR_AF,KARS
390524,16:75662490:G>A,NM_001130089.1:c.1756C>T,NP_001123561.1:p.Leu586Phe,14/15,\N,Unknown significance,\N,missense_variant,28.2,\N,\N,KARS
390525,16:75662496:TG>T,NM_001130089.1:c.1749del,NP_001123561.1:p.Met584CysfsTer18,14/15,\N,Unknown significance,\N,frameshift_variant,34,0.0000149894,EXAC_NFE_AF,KARS
390526,16:75662499:C>T,NM_001130089.1:c.1747G>A,NP_001123561.1:p.Ala583Thr,14/15,\N,Likely benign,\N,missense_variant,12.65,0.0000599592,EXAC_NFE_AF,KARS
390527,16:75662500:G>A,NM_001130089.1:c.1746C>T,NP_001123561.1:p.Val582=,14/15,\N,Unknown significance,\N,synonymous_variant,12.83,0.0000605694,EXAC_SAS_AF,KARS
390528,16:75662514:C>A,NM_001130089.1:c.1732G>T,NP_001123561.1:p.Gly578Cys,14/15,\N,Unknown significance,\N,missense_variant,31,0.00022748,EVS_AA_AF,KARS
390529,16:75662515:C>A,NM_001130089.1:c.1731G>T,NP_001123561.1:p.Met577Ile,14/15,\N,Unknown significance,\N,missense_variant,22.2,0.00022748,EVS_AA_AF,KARS
390530,16:75662527:A>C,NM_001130089.1:c.1719T>G,NP_001123561.1:p.Ala573=,14/15,\N,Unknown significance,\N,synonymous_variant,0.167,0.0000864454,EXAC_AMR_AF,KARS
390531,16:75662529:C>T,NM_005548.2:c.1633G>A,NP_005539.1:p.Ala545Thr,13/14,\N,Unknown significance,\N,missense_variant,28.3,0.0000605694,EXAC_SAS_AF,KARS
390532,16:75662533:G>T,NM_001130089.1:c.1713C>A,NP_001123561.1:p.Pro571=,14/15,\N,Unknown significance,\N,synonymous_variant,0.231,0.000116279,EVS_EA_AF,KARS
390533,16:75662538:G>A,NM_001130089.1:c.1708C>T,NP_001123561.1:p.Pro570Ser,14/15,\N,Unknown significance,\N,missense_variant,31,0.0000149876,EXAC_NFE_AF,KARS
390534,16:75662540:A>G,NM_005548.2:c.1622T>C,NP_005539.1:p.Leu541Pro,13/14,\N,Unknown significance,\N,missense_variant,31,0.0000605694,EXAC_SAS_AF,KARS
390535,16:75662551:C>G,NM_001130089.1:c.1695G>C,NP_001123561.1:p.Leu565=,14/15,\N,Unknown significance,\N,synonymous_variant,12.76,0.0000864155,EXAC_AMR_AF,KARS
390536,16:75662566:G>A,NM_001130089.1:c.1680C>T,NP_001123561.1:p.Asn560=,14/15,\N,Unknown significance,\N,synonymous_variant,10.82,0.000115554,EXAC_EAS_AF,KARS
390537,16:75662587:CTCA>C,NM_001130089.1:c.1656_1658del,NP_001123561.1:p.Asp552del,14/15,\N,Unknown significance,\N,inframe_deletion,22.7,0.0000149889,EXAC_NFE_AF,KARS
390538,16:75662589:C>T,NM_001130089.1:c.1657G>A,NP_001123561.1:p.Glu553Lys,14/15,\N,Pathogenic,Visual loss| progressive microcephaly| developmental delay| seizures| and abnormal subcortical white matter,missense_variant,35,0.0000149894,EXAC_NFE_AF,KARS
390539,16:75662602:A>G,NM_001130089.1:c.1644T>C,NP_001123561.1:p.Ala548=,14/15,\N,Unknown significance,\N,synonymous_variant,10.75,0.001,1KG_EAS_AF,KARS
390540,16:75662615:A>C,NM_001130089.1:c.1636-5T>G,\N,\N,13/14,Unknown significance,\N,splice_region_variant&intron_variant,4.286,0.0000300219,EXAC_NFE_AF,KARS
390541,16:75662616:A>C,NM_001130089.1:c.1636-6T>G,\N,\N,13/14,Unknown significance,\N,splice_region_variant&intron_variant,3.64,0.001,1KG_EUR_AF,KARS
390542,16:75662620:G>T,NM_001130089.1:c.1636-10C>A,\N,\N,13/14,Unknown significance,\N,intron_variant,8.854,0.000116279,EVS_EA_AF,KARS
390543,16:75662626:G>C,NM_001130089.1:c.1636-16C>G,\N,\N,13/14,Unknown significance,\N,intron_variant,9.762,0.0000967118,EXAC_AFR_AF,KARS
390544,16:75662636:G>A,NM_001130089.1:c.1636-26C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,9.53,0.0000605987,EXAC_SAS_AF,KARS
390545,16:75662638:G>A,NM_001130089.1:c.1636-28C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,8.593,0.000116279,EVS_EA_AF,KARS
390546,16:75662639:A>G,NM_001130089.1:c.1636-29T>C,\N,\N,13/14,Unknown significance,\N,intron_variant,8.585,0.000116279,EVS_EA_AF,KARS
390547,16:75662644:C>T,NM_001130089.1:c.1636-34G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,7.087,0.0000865052,EXAC_AMR_AF,KARS
390548,16:75662649:A>G,NM_001130089.1:c.1636-39T>C,\N,\N,13/14,Unknown significance,\N,intron_variant,6.878,0.0000606134,EXAC_SAS_AF,KARS
390549,16:75662652:A>G,NM_001130089.1:c.1636-42T>C,\N,\N,13/14,Unknown significance,\N,intron_variant,4.829,\N,\N,KARS
390550,16:75662653:T>C,NM_001130089.1:c.1636-43A>G,\N,\N,13/14,Unknown significance,\N,intron_variant,1.665,0.0000606428,EXAC_SAS_AF,KARS
390551,16:75662660:G>A,NM_001130089.1:c.1636-50C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,5.998,0.0000606502,EXAC_SAS_AF,KARS
390552,16:75662660:G>C,NM_001130089.1:c.1636-50C>G,\N,\N,13/14,Unknown significance,\N,intron_variant,3.323,0.0000150775,EXAC_NFE_AF,KARS
390553,16:75662689:G>A,NM_001130089.1:c.1636-79C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,3.589,0.001,1KG_SAS_AF,KARS
390554,16:75662695:G>A,NM_001130089.1:c.1636-85C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,2.066,\N,\N,KARS
390555,16:75662720:C>G,NM_001130089.1:c.1636-110G>C,\N,\N,13/14,Unknown significance,\N,intron_variant,16.24,0.001,1KG_EAS_AF,KARS
390556,16:75662731:G>C,NM_001130089.1:c.1636-121C>G,\N,\N,13/14,Unknown significance,\N,intron_variant,14.52,0.0014,1KG_AMR_AF,KARS
390557,16:75662775:G>A,NM_001130089.1:c.1636-165C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,2.643,0.001,1KG_SAS_AF,KARS
390558,16:75662813:C>T,NM_001130089.1:c.1636-203G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,5.472,0.0015,1KG_AFR_AF,KARS
390559,16:75662814:G>A,NM_001130089.1:c.1636-204C>T,\N,\N,13/14,Benign,\N,intron_variant,2.893,0.0106,1KG_AFR_AF,KARS
390560,16:75662817:C>T,NM_001130089.1:c.1636-207G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,10.26,0.001,1KG_SAS_AF,KARS
390561,16:75662829:AC>A,NM_001130089.1:c.1636-220del,\N,\N,13/14,Benign,\N,intron_variant,11.11,0.0182,1KG_AFR_AF,KARS
390562,16:75662844:A>G,NM_001130089.1:c.1636-234T>C,\N,\N,13/14,Unknown significance,\N,intron_variant,11.86,\N,\N,KARS
390563,16:75662867:G>A,NM_001130089.1:c.1636-257C>T,\N,\N,13/14,Benign,\N,intron_variant,6.279,0.0318,1KG_AFR_AF,KARS
390564,16:75662873:G>C,NM_001130089.1:c.1636-263C>G,\N,\N,13/14,Benign,\N,intron_variant,1.603,0.0159,1KG_AFR_AF,KARS
390565,16:75662875:A>C,NM_001130089.1:c.1636-265T>G,\N,\N,13/14,Unknown significance,\N,intron_variant,4.731,0.001,1KG_EAS_AF,KARS
390566,16:75662883:C>T,NM_001130089.1:c.1636-273G>A,\N,\N,13/14,Benign,\N,intron_variant,4.054,0.751,1KG_EAS_AF,KARS
390567,16:75662886:G>T,NM_001130089.1:c.1636-276C>A,\N,\N,13/14,Unknown significance,\N,intron_variant,1.494,\N,\N,KARS
390568,16:75662925:T>G,NM_001130089.1:c.1636-315A>C,\N,\N,13/14,Benign,\N,intron_variant,7.642,0.4032,1KG_AFR_AF,KARS
390569,16:75662928:C>T,NM_001130089.1:c.1636-318G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,6.43,0.002,1KG_EAS_AF,KARS
390570,16:75662929:A>G,NM_001130089.1:c.1636-319T>C,\N,\N,13/14,Unknown significance,\N,intron_variant,7.004,\N,\N,KARS
390571,16:75662962:C>G,NM_001130089.1:c.1635+351G>C,\N,\N,13/14,Unknown significance,\N,intron_variant,4.213,\N,\N,KARS
390572,16:75662972:G>A,NM_001130089.1:c.1635+341C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,3.817,0.0008,1KG_AFR_AF,KARS
390573,16:75663011:C>A,NM_001130089.1:c.1635+302G>T,\N,\N,13/14,Benign,\N,intron_variant,5.408,0.0522,1KG_AFR_AF,KARS
390574,16:75663050:A>C,NM_001130089.1:c.1635+263T>G,\N,\N,13/14,Unknown significance,\N,intron_variant,6.667,\N,\N,KARS
390575,16:75663052:T>C,NM_001130089.1:c.1635+261A>G,\N,\N,13/14,Unknown significance,\N,intron_variant,7.011,\N,\N,KARS
390576,16:75663094:C>T,NM_001130089.1:c.1635+219G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,3.749,\N,\N,KARS
390577,16:75663095:G>A,NM_001130089.1:c.1635+218C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,3.851,0.001,1KG_EAS_AF,KARS
390578,16:75663102:A>G,NM_001130089.1:c.1635+211T>C,\N,\N,13/14,Benign,\N,intron_variant,3.852,0.0522,1KG_AFR_AF,KARS
390579,16:75663106:G>A,NM_001130089.1:c.1635+207C>T,\N,\N,13/14,Benign,\N,intron_variant,4.577,0.7044,1KG_EAS_AF,KARS
390580,16:75663132:T>C,NM_001130089.1:c.1635+181A>G,\N,\N,13/14,Unknown significance,\N,intron_variant,3.414,0.001,1KG_EAS_AF,KARS
390581,16:75663137:G>C,NM_001130089.1:c.1635+176C>G,\N,\N,13/14,Unknown significance,\N,intron_variant,0.746,0.0014,1KG_AMR_AF,KARS
390582,16:75663175:G>T,NM_001130089.1:c.1635+138C>A,\N,\N,13/14,Benign,\N,intron_variant,8.19,0.0109,1KG_EAS_AF,KARS
390583,16:75663181:C>A,NM_001130089.1:c.1635+132G>T,\N,\N,13/14,Unknown significance,\N,intron_variant,11.3,\N,\N,KARS
390584,16:75663188:C>CA,NM_001130089.1:c.1635+124dup,\N,\N,13/14,Benign,\N,intron_variant,10.26,0.751,1KG_EAS_AF,KARS
390585,16:75663189:A>AC,NM_001130089.1:c.1635+123_1635+124insG,\N,\N,13/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390586,16:75663223:C>T,NM_001130089.1:c.1635+90G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,6.034,0.0008,1KG_AFR_AF,KARS
390587,16:75663231:G>A,NM_001130089.1:c.1635+82C>T,\N,\N,13/14,Unknown significance,\N,intron_variant,4.397,0.0014,1KG_AMR_AF,KARS
390588,16:75663244:C>A,NM_001130089.1:c.1635+69G>T,\N,\N,13/14,Unknown significance,\N,intron_variant,10.68,0.002,1KG_EAS_AF,KARS
390589,16:75663246:G>C,NM_001130089.1:c.1635+67C>G,\N,\N,13/14,Unknown significance,\N,intron_variant,8.351,\N,\N,KARS
390590,16:75663271:T>A,NM_001130089.1:c.1635+42A>T,\N,\N,13/14,Unknown significance,\N,intron_variant,8.806,\N,\N,KARS
390591,16:75663293:C>T,NM_001130089.1:c.1635+20G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,5.623,0.0000149844,EXAC_NFE_AF,KARS
390592,16:75663294:TCA>T,NM_001130089.1:c.1635+17_1635+18del,\N,\N,13/14,Unknown significance,\N,intron_variant,7.61,0.0000149844,EXAC_NFE_AF,KARS
390593,16:75663300:T>A,NM_001130089.1:c.1635+13A>T,\N,\N,13/14,Unknown significance,\N,intron_variant,11.46,0.000682439,EVS_AA_AF,KARS
390594,16:75663301:C>T,NM_001130089.1:c.1635+12G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,12.18,0.000060562,EXAC_SAS_AF,KARS
390595,16:75663303:C>T,NM_001130089.1:c.1635+10G>A,\N,\N,13/14,Unknown significance,\N,intron_variant,12.36,0.000232558,EVS_EA_AF,KARS
390596,16:75663309:T>A,NM_001130089.1:c.1635+4A>T,\N,\N,13/14,Unknown significance,\N,splice_region_variant&intron_variant,10.1,0.001,1KG_SAS_AF,KARS
390597,16:75663324:C>A,NM_001130089.1:c.1624G>T,NP_001123561.1:p.Glu542Ter,13/15,\N,Unknown significance,\N,stop_gained,47,0.00022748,EVS_AA_AF,KARS
390598,16:75663327:C>A,NM_001130089.1:c.1621G>T,NP_001123561.1:p.Glu541Ter,13/15,\N,Unknown significance,\N,stop_gained,52,\N,\N,KARS
390599,16:75663327:C>T,NM_001130089.1:c.1621G>A,NP_001123561.1:p.Glu541Lys,13/15,\N,Unknown significance,\N,missense_variant,24.7,\N,\N,KARS
390600,16:75663333:G>C,NM_005548.2:c.1531C>G,NP_005539.1:p.Leu511Val,12/14,\N,Unknown significance,\N,missense_variant,22.8,\N,\N,KARS
390601,16:75663338:C>T,NM_001130089.1:c.1610G>A,NP_001123561.1:p.Arg537Gln,13/15,\N,Unknown significance,\N,missense_variant,32,0.000014984,EXAC_NFE_AF,KARS
390602,16:75663339:G>A,NM_001130089.1:c.1609C>T,NP_001123561.1:p.Arg537Trp,13/15,\N,Likely pathogenic,NSHL/ autosomal recessive DFNB89,missense_variant,34,\N,\N,KARS
390603,16:75663344:C>T,NM_001130089.1:c.1604G>A,NP_001123561.1:p.Arg535Gln,13/15,\N,Unknown significance,\N,missense_variant,23.6,0.0000863856,EXAC_AMR_AF,KARS
390604,16:75663345:G>A,NM_005548.2:c.1519C>T,NP_005539.1:p.Arg507Trp,12/14,\N,Unknown significance,\N,missense_variant,26.5,0.000172741,EXAC_AMR_AF,KARS
390605,16:75663354:C>T,NM_005548.2:c.1510G>A,NP_005539.1:p.Asp504Asn,12/14,\N,Unknown significance,\N,missense_variant,28.1,0.0000605694,EXAC_SAS_AF,KARS
390606,16:75663370:C>T,NM_001130089.1:c.1578G>A,NP_001123561.1:p.Ala526=,13/15,\N,Unknown significance,\N,synonymous_variant,21.3,0.000288295,EXAC_AFR_AF,KARS
390607,16:75663374:T>A,NM_001130089.1:c.1574A>T,NP_001123561.1:p.Asn525Ile,13/15,\N,Unknown significance,\N,missense_variant,33,0.0000863856,EXAC_AMR_AF,KARS
390608,16:75663374:T>C,NM_001130089.1:c.1574A>G,NP_001123561.1:p.Asn525Ser,13/15,\N,Unknown significance,\N,missense_variant,27,0.0000149844,EXAC_NFE_AF,KARS
390609,16:75663378:A>G,NM_001130089.1:c.1570T>C,NP_001123561.1:p.Cys524Arg,13/15,\N,Unknown significance,\N,missense_variant,29.5,0.000014984,EXAC_NFE_AF,KARS
390610,16:75663379:T>C,NM_001130089.1:c.1569A>G,NP_001123561.1:p.Ile523Met,13/15,\N,Unknown significance,\N,missense_variant,24.5,0.00118373,EXAC_NFE_AF,KARS
390611,16:75663382:C>G,NM_001130089.1:c.1566G>C,NP_001123561.1:p.Glu522Asp,13/15,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,KARS
390612,16:75663388:C>A,NM_005548.2:c.1476G>T,NP_005539.1:p.Lys492Asn,12/14,\N,Unknown significance,\N,missense_variant,28.9,0.0000960984,EXAC_AFR_AF,KARS
390613,16:75663388:C>T,NM_001130089.1:c.1560G>A,NP_001123561.1:p.Lys520=,13/15,\N,Unknown significance,\N,synonymous_variant,16.46,0.000232558,EVS_EA_AF,KARS
390614,16:75663392:A>AT,NM_001130089.1:c.1555dup,NP_001123561.1:p.Met519AsnfsTer11,13/15,\N,Unknown significance,\N,frameshift_variant,35,0.000014984,EXAC_NFE_AF,KARS
390615,16:75663392:A>G,NM_001130089.1:c.1556T>C,NP_001123561.1:p.Met519Thr,13/15,\N,Unknown significance,\N,missense_variant,24.1,0.000014984,EXAC_NFE_AF,KARS
390616,16:75663396:C>A,NM_001130089.1:c.1552G>T,NP_001123561.1:p.Val518Phe,13/15,\N,Unknown significance,\N,missense_variant,33,0.0000605694,EXAC_SAS_AF,KARS
390617,16:75663397:A>C,NM_005548.2:c.1467T>G,NP_005539.1:p.Phe489Leu,12/14,\N,Unknown significance,\N,missense_variant,26.6,0.0000605694,EXAC_SAS_AF,KARS
390618,16:75663400:C>A,NM_001130089.1:c.1548G>T,NP_001123561.1:p.Leu516=,13/15,\N,Unknown significance,\N,synonymous_variant,17.99,0.001,1KG_EAS_AF,KARS
390619,16:75663400:C>G,NM_001130089.1:c.1548G>C,NP_001123561.1:p.Leu516=,13/15,\N,Unknown significance,\N,synonymous_variant,12.77,0.0000605694,EXAC_SAS_AF,KARS
390620,16:75663400:C>T,NM_001130089.1:c.1548G>A,NP_001123561.1:p.Leu516=,13/15,\N,Unknown significance,\N,synonymous_variant,14.25,0.0000149849,EXAC_NFE_AF,KARS
390621,16:75663416:G>C,NM_001130089.1:c.1532C>G,NP_001123561.1:p.Thr511Ser,13/15,\N,Unknown significance,\N,missense_variant,23,0.00110132,EXAC_OTH_AF,KARS
390622,16:75663421:AC>A,NM_001130089.1:c.1526del,NP_001123561.1:p.Gly509ValfsTer2,13/15,\N,Unknown significance,\N,frameshift_variant,36,0.0000962649,EXAC_AFR_AF,KARS
390623,16:75663426:C>G,NM_001130089.1:c.1522G>C,NP_001123561.1:p.Glu508Gln,13/15,\N,Unknown significance,\N,missense_variant,22.9,0.000577478,EXAC_AFR_AF,KARS
390624,16:75663429:T>C,NM_001130089.1:c.1519A>G,NP_001123561.1:p.Lys507Glu,13/15,\N,Unknown significance,\N,missense_variant,16.36,\N,\N,KARS
390625,16:75663429:T>TAG,NM_001130089.1:c.1517_1518dup,NP_001123561.1:p.Lys507LeufsTer5,13/15,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,KARS
390626,16:75663430:A>G,NM_001130089.1:c.1518T>C,NP_001123561.1:p.Ser506=,13/15,\N,Unknown significance,\N,synonymous_variant,9.175,0.001,1KG_EUR_AF,KARS
390627,16:75663431:G>A,NM_001130089.1:c.1517C>T,NP_001123561.1:p.Ser506Phe,13/15,\N,Unknown significance,\N,missense_variant,24.8,0.000014997,EXAC_NFE_AF,KARS
390628,16:75663434:C>T,NM_001130089.1:c.1514G>A,NP_001123561.1:p.Arg505His,13/15,\N,Unknown significance,\N,missense_variant,35,0.0000149975,EXAC_NFE_AF,KARS
390629,16:75663435:G>A,NM_001130089.1:c.1513C>T,NP_001123561.1:p.Arg505Cys,13/15,\N,Unknown significance,\N,missense_variant,28.6,0.0000864304,EXAC_AMR_AF,KARS
390630,16:75663439:C>A,NM_001130089.1:c.1509G>T,NP_001123561.1:p.Trp503Cys,13/15,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,\N,\N,KARS
390631,16:75663442:A>G,NM_001130089.1:c.1509-3T>C,\N,\N,12/14,Unknown significance,\N,splice_region_variant&intron_variant,5.449,0.00110132,EXAC_OTH_AF,KARS
390632,16:75663443:G>C,NM_001130089.1:c.1509-4C>G,\N,\N,12/14,Unknown significance,\N,splice_region_variant&intron_variant,0.821,0.000454959,EVS_AA_AF,KARS
390633,16:75663444:G>A,NM_001130089.1:c.1509-5C>T,\N,\N,12/14,Unknown significance,\N,splice_region_variant&intron_variant,5.679,0.00110132,EXAC_OTH_AF,KARS
390634,16:75663449:G>A,NM_001130089.1:c.1509-10C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.353,0.0000450302,EXAC_NFE_AF,KARS
390635,16:75663452:G>A,NM_001130089.1:c.1509-13C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,6.157,0.000151286,EXAC_FIN_AF,KARS
390636,16:75663460:A>T,NM_001130089.1:c.1509-21T>A,\N,\N,12/14,Unknown significance,\N,intron_variant,2.618,0.000116279,EVS_EA_AF,KARS
390637,16:75663461:G>A,NM_001130089.1:c.1509-22C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.874,0.000116144,EXAC_EAS_AF,KARS
390638,16:75663462:G>A,NM_001130089.1:c.1509-23C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.898,0.0000606061,EXAC_SAS_AF,KARS
390639,16:75663463:A>C,NM_001130089.1:c.1509-24T>G,\N,\N,12/14,Unknown significance,\N,intron_variant,7.212,0.000097352,EXAC_AFR_AF,KARS
390640,16:75663464:G>A,NM_001130089.1:c.1509-25C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.145,0.000121212,EXAC_SAS_AF,KARS
390641,16:75663465:G>A,NM_001130089.1:c.1509-26C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.446,0.0000606061,EXAC_SAS_AF,KARS
390642,16:75663465:G>T,NM_001130089.1:c.1509-26C>A,\N,\N,12/14,Unknown significance,\N,intron_variant,4.785,0.000121212,EXAC_SAS_AF,KARS
390643,16:75663466:C>G,NM_001130089.1:c.1509-27G>C,\N,\N,12/14,Unknown significance,\N,intron_variant,6.889,0.0000150245,EXAC_NFE_AF,KARS
390644,16:75663468:G>A,NM_001130089.1:c.1509-29C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,8.333,0.00110619,EXAC_OTH_AF,KARS
390645,16:75663470:A>G,NM_001130089.1:c.1509-31T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,8.716,0.002163,EXAC_AMR_AF,KARS
390646,16:75663472:A>G,NM_001130089.1:c.1509-33T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,7.952,\N,\N,KARS
390647,16:75663477:G>A,NM_001130089.1:c.1509-38C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,8.045,0.0000865951,EXAC_AMR_AF,KARS
390648,16:75663479:C>A,NM_001130089.1:c.1509-40G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.378,0.0000150485,EXAC_NFE_AF,KARS
390649,16:75663479:C>T,NM_001130089.1:c.1509-40G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,7.336,0.000363989,EXAC_SAS_AF,KARS
390650,16:75663483:T>TA,NM_001130089.1:c.1509-45dup,\N,\N,12/14,Unknown significance,\N,intron_variant,6.092,0.000519931,EXAC_AMR_AF,KARS
390651,16:75663484:A>G,NM_001130089.1:c.1509-45T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,7.221,0.0000150957,EXAC_NFE_AF,KARS
390652,16:75663485:A>G,NM_001130089.1:c.1509-46T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,8.539,0.0000150852,EXAC_NFE_AF,KARS
390653,16:75663491:T>C,NM_001130089.1:c.1509-52A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,2.969,0.0000607091,EXAC_SAS_AF,KARS
390654,16:75663506:C>CT,NM_001130089.1:c.1509-68dup,\N,\N,12/14,Unknown significance,\N,intron_variant,3.894,0.0014,1KG_AMR_AF,KARS
390655,16:75663514:T>C,NM_001130089.1:c.1509-75A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.794,\N,\N,KARS
390656,16:75663520:C>T,NM_001130089.1:c.1509-81G>A,\N,\N,12/14,Benign,\N,intron_variant,0.188,0.0061,1KG_SAS_AF,KARS
390657,16:75663521:G>A,NM_001130089.1:c.1509-82C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,1.12,0.003,1KG_AFR_AF,KARS
390658,16:75663522:G>C,NM_001130089.1:c.1509-83C>G,\N,\N,12/14,Unknown significance,\N,intron_variant,0.529,0.001,1KG_EAS_AF,KARS
390659,16:75663524:G>C,NM_001130089.1:c.1509-85C>G,\N,\N,12/14,Benign,\N,intron_variant,0.514,0.0068,1KG_AFR_AF,KARS
390660,16:75663528:C>T,NM_001130089.1:c.1509-89G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,1.063,0.001,1KG_EAS_AF,KARS
390661,16:75663530:C>A,NM_001130089.1:c.1509-91G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,1.148,\N,\N,KARS
390662,16:75663538:C>A,NM_001130089.1:c.1509-99G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,2.3,\N,\N,KARS
390663,16:75663539:G>C,NM_001130089.1:c.1509-100C>G,\N,\N,12/14,Unknown significance,\N,intron_variant,0.123,\N,\N,KARS
390664,16:75663544:C>T,NM_001130089.1:c.1509-105G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,1.956,0.0015,1KG_AFR_AF,KARS
390665,16:75663553:A>C,NM_001130089.1:c.1509-114T>G,\N,\N,12/14,Unknown significance,\N,intron_variant,4.318,\N,\N,KARS
390666,16:75663557:G>C,NM_001130089.1:c.1509-118C>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.258,\N,\N,KARS
390667,16:75663599:G>A,NM_001130089.1:c.1509-160C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,0.389,0.0008,1KG_AFR_AF,KARS
390668,16:75663629:G>A,NM_001130089.1:c.1509-190C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,0.952,0.001,1KG_SAS_AF,KARS
390669,16:75663642:C>A,NM_001130089.1:c.1509-203G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,2.948,0.0008,1KG_AFR_AF,KARS
390670,16:75663672:T>A,NM_001130089.1:c.1509-233A>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.121,0.001,1KG_EAS_AF,KARS
390671,16:75663675:T>C,NM_001130089.1:c.1509-236A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,2.576,\N,\N,KARS
390672,16:75663684:C>A,NM_001130089.1:c.1509-245G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,2.67,\N,\N,KARS
390673,16:75663692:C>T,NM_001130089.1:c.1509-253G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,1.744,0.0008,1KG_AFR_AF,KARS
390674,16:75663696:A>G,NM_001130089.1:c.1509-257T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,3.435,0.002,1KG_EAS_AF,KARS
390675,16:75663699:T>C,NM_001130089.1:c.1509-260A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.106,0.0008,1KG_AFR_AF,KARS
390676,16:75663710:G>A,NM_001130089.1:c.1509-271C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,8.112,0.001,1KG_EAS_AF,KARS
390677,16:75663715:A>C,NM_001130089.1:c.1509-276T>G,\N,\N,12/14,Unknown significance,\N,intron_variant,2.084,\N,\N,KARS
390678,16:75663811:A>G,NM_001130089.1:c.1509-372T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,4.532,\N,\N,KARS
390679,16:75663815:G>A,NM_001130089.1:c.1509-376C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,7.462,0.0014,1KG_AMR_AF,KARS
390680,16:75663818:A>G,NM_001130089.1:c.1509-379T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,5.921,0.0008,1KG_AFR_AF,KARS
390681,16:75663820:A>G,NM_001130089.1:c.1509-381T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,4.53,0.002,1KG_EUR_AF,KARS
390682,16:75663823:G>A,NM_001130089.1:c.1509-384C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,1.487,0.001,1KG_EAS_AF,KARS
390683,16:75663831:G>T,NM_001130089.1:c.1509-392C>A,\N,\N,12/14,Unknown significance,\N,intron_variant,2.547,\N,\N,KARS
390684,16:75663835:G>A,NM_001130089.1:c.1509-396C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,1.202,\N,\N,KARS
390685,16:75663858:G>T,NM_001130089.1:c.1509-419C>A,\N,\N,12/14,Unknown significance,\N,intron_variant,3.409,0.0008,1KG_AFR_AF,KARS
390686,16:75663864:C>T,NM_001130089.1:c.1509-425G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,10.01,0.0015,1KG_AFR_AF,KARS
390687,16:75663877:C>T,NM_001130089.1:c.1509-438G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,9.591,\N,\N,KARS
390688,16:75663910:C>A,NM_001130089.1:c.1508+411G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,1.686,\N,\N,KARS
390689,16:75663950:G>A,NM_001130089.1:c.1508+371C>T,\N,\N,12/14,Benign,\N,intron_variant,5.611,0.0885,1KG_AFR_AF,KARS
390690,16:75663967:G>C,NM_001130089.1:c.1508+354C>G,\N,\N,12/14,Unknown significance,\N,intron_variant,3.586,0.001,1KG_EAS_AF,KARS
390691,16:75663978:G>T,NM_001130089.1:c.1508+343C>A,\N,\N,12/14,Unknown significance,\N,intron_variant,3.46,\N,\N,KARS
390692,16:75664023:T>C,NM_001130089.1:c.1508+298A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.721,0.001,1KG_SAS_AF,KARS
390693,16:75664028:T>C,NM_001130089.1:c.1508+293A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,3.976,0.004,1KG_EAS_AF,KARS
390694,16:75664068:G>C,NM_001130089.1:c.1508+253C>G,\N,\N,12/14,Benign,\N,intron_variant,0.508,0.0646,1KG_EUR_AF,KARS
390695,16:75664075:A>G,NM_001130089.1:c.1508+246T>C,\N,\N,12/14,Benign,\N,intron_variant,3.848,0.0234,1KG_AFR_AF,KARS
390696,16:75664115:G>A,NM_001130089.1:c.1508+206C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,2.749,\N,\N,KARS
390697,16:75664117:A>G,NM_001130089.1:c.1508+204T>C,\N,\N,12/14,Unknown significance,\N,intron_variant,3.755,\N,\N,KARS
390698,16:75664128:T>C,NM_001130089.1:c.1508+193A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,2.337,0.001,1KG_EAS_AF,KARS
390699,16:75664141:C>T,NM_001130089.1:c.1508+180G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,1.36,0.001,1KG_EUR_AF,KARS
390700,16:75664161:C>T,NM_001130089.1:c.1508+160G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,18.91,0.0029,1KG_AMR_AF,KARS
390701,16:75664167:C>A,NM_001130089.1:c.1508+154G>T,\N,\N,12/14,Unknown significance,\N,intron_variant,18.62,0.001,1KG_EAS_AF,KARS
390702,16:75664178:G>A,NM_001130089.1:c.1508+143C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,16.54,\N,\N,KARS
390703,16:75664189:G>T,NM_001130089.1:c.1508+132C>A,\N,\N,12/14,Benign,\N,intron_variant,10.9,0.005,1KG_EAS_AF,KARS
390704,16:75664198:G>A,NM_001130089.1:c.1508+123C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,6.061,0.001,1KG_EAS_AF,KARS
390705,16:75664211:A>C,NM_001130089.1:c.1508+110T>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.152,\N,\N,KARS
390706,16:75664217:C>T,NM_001130089.1:c.1508+104G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,5.647,\N,\N,KARS
390707,16:75664230:C>T,NM_001130089.1:c.1508+91G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,5.664,\N,\N,KARS
390708,16:75664272:C>T,NM_001130089.1:c.1508+49G>A,\N,\N,12/14,Benign,\N,intron_variant,3.841,0.0174,1KG_AFR_AF,KARS
390709,16:75664273:C>T,NM_001130089.1:c.1508+48G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,4.912,\N,\N,KARS
390710,16:75664274:A>C,NM_001130089.1:c.1508+47T>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.907,\N,\N,KARS
390711,16:75664287:G>A,NM_001130089.1:c.1508+34C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,3.382,0.0038,1KG_AFR_AF,KARS
390712,16:75664291:T>C,NM_001130089.1:c.1508+30A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,3.922,0.0000166412,EXAC_NFE_AF,KARS
390713,16:75664291:T>G,NM_001130089.1:c.1508+30A>C,\N,\N,12/14,Unknown significance,\N,intron_variant,5.292,\N,\N,KARS
390714,16:75664293:A>T,NM_001130089.1:c.1508+28T>A,\N,\N,12/14,Unknown significance,\N,intron_variant,4.195,0.0000330579,EXAC_NFE_AF,KARS
390715,16:75664295:G>A,NM_001130089.1:c.1508+26C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,5.707,0.000277675,EXAC_AMR_AF,KARS
390716,16:75664296:C>T,NM_001130089.1:c.1508+25G>A,\N,\N,12/14,Unknown significance,\N,intron_variant,4.449,0.000092285,EXAC_AMR_AF,KARS
390717,16:75664302:T>C,NM_001130089.1:c.1508+19A>G,\N,\N,12/14,Unknown significance,\N,intron_variant,1.308,0.00022748,EVS_AA_AF,KARS
390718,16:75664304:G>C,NM_001130089.1:c.1508+17C>G,\N,\N,12/14,Unknown significance,\N,intron_variant,0.863,0.0000645245,EXAC_SAS_AF,KARS
390719,16:75664312:G>A,NM_001130089.1:c.1508+9C>T,\N,\N,12/14,Unknown significance,\N,intron_variant,5.942,0.0000156853,EXAC_NFE_AF,KARS
390720,16:75664315:T>C,NM_001130089.1:c.1508+6A>G,\N,\N,12/14,Unknown significance,\N,splice_region_variant&intron_variant,7.951,0.000197589,EXAC_AFR_AF,KARS
390721,16:75664315:T>G,NM_001130089.1:c.1508+6A>C,\N,\N,12/14,Unknown significance,\N,splice_region_variant&intron_variant,9.361,0.0000629089,EXAC_SAS_AF,KARS
390722,16:75664323:T>C,NM_001130089.1:c.1506A>G,NP_001123561.1:p.Lys502=,12/15,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.91,0.000117014,EXAC_EAS_AF,KARS
390723,16:75664325:T>A,NM_001130089.1:c.1504A>T,NP_001123561.1:p.Lys502Ter,12/15,\N,Unknown significance,\N,stop_gained,45,0.00011685,EXAC_EAS_AF,KARS
390724,16:75664344:C>T,NM_001130089.1:c.1485G>A,NP_001123561.1:p.Gln495=,12/15,\N,Unknown significance,\N,synonymous_variant,12.91,0.0000151007,EXAC_NFE_AF,KARS
390725,16:75664348:G>T,NM_001130089.1:c.1481C>A,NP_001123561.1:p.Pro494Gln,12/15,\N,Unknown significance,\N,missense_variant,32,\N,\N,KARS
390726,16:75664355:C>G,NM_005548.2:c.1390G>C,NP_005539.1:p.Asp464His,11/14,\N,Unknown significance,\N,missense_variant,32,0.0000964692,EXAC_AFR_AF,KARS
390727,16:75664358:A>C,NM_001130089.1:c.1471T>G,NP_001123561.1:p.Cys491Gly,12/15,\N,Unknown significance,\N,missense_variant,26.3,0.0008,1KG_AFR_AF,KARS
390728,16:75664365:T>C,NM_001130089.1:c.1464A>G,NP_001123561.1:p.Thr488=,12/15,\N,Unknown significance,\N,synonymous_variant,8.484,0.000060687,EXAC_SAS_AF,KARS
390729,16:75664366:G>A,NM_005548.2:c.1379C>T,NP_005539.1:p.Thr460Ile,11/14,\N,Unknown significance,\N,missense_variant,33,0.0000150371,EXAC_NFE_AF,KARS
390730,16:75664372:T>C,NM_001130089.1:c.1457A>G,NP_001123561.1:p.Asn486Ser,12/15,\N,Likely benign,\N,missense_variant,17.37,0.001,1KG_EAS_AF,KARS
390731,16:75664377:G>A,NM_001130089.1:c.1452C>T,NP_001123561.1:p.Cys484=,12/15,\N,Unknown significance,\N,synonymous_variant,12.5,0.00012133,EXAC_SAS_AF,KARS
390732,16:75664378:C>T,NM_005548.2:c.1367G>A,NP_005539.1:p.Cys456Tyr,11/14,\N,Unknown significance,\N,missense_variant,32,0.00011566,EXAC_EAS_AF,KARS
390733,16:75664379:A>C,NM_001130089.1:c.1450T>G,NP_001123561.1:p.Cys484Gly,12/15,\N,Unknown significance,\N,missense_variant,27.8,0.000115634,EXAC_EAS_AF,KARS
390734,16:75664389:C>T,NM_001130089.1:c.1440G>A,NP_001123561.1:p.Leu480=,12/15,\N,Unknown significance,\N,synonymous_variant,14.69,0.0000150231,EXAC_NFE_AF,KARS
390735,16:75664392:G>A,NM_001130089.1:c.1437C>T,NP_001123561.1:p.Phe479=,12/15,\N,Unknown significance,\N,synonymous_variant,12.98,\N,\N,KARS
390736,16:75664395:C>G,NM_001130089.1:c.1434G>C,NP_001123561.1:p.Glu478Asp,12/15,\N,Unknown significance,\N,missense_variant,20.7,0.000116279,EVS_EA_AF,KARS
390737,16:75664399:C>G,NM_005548.2:c.1346G>C,NP_005539.1:p.Gly449Ala,11/14,\N,Unknown significance,\N,missense_variant,31,0.0000150317,EXAC_NFE_AF,KARS
390738,16:75664400:C>A,NM_001130089.1:c.1429G>T,NP_001123561.1:p.Gly477Trp,12/15,\N,Unknown significance,\N,missense_variant,35,0.0000300589,EXAC_NFE_AF,KARS
390739,16:75664403:C>G,NM_001130089.1:c.1426G>C,NP_001123561.1:p.Val476Leu,12/15,\N,Unknown significance,\N,missense_variant,25.5,0.0000864902,EXAC_AMR_AF,KARS
390740,16:75664409:T>C,NM_001130089.1:c.1423-3A>G,\N,\N,11/14,Unknown significance,\N,splice_region_variant&intron_variant,12.96,0.000015038,EXAC_NFE_AF,KARS
390741,16:75664413:G>A,NM_001130089.1:c.1423-7C>T,\N,\N,11/14,Unknown significance,\N,splice_region_variant&intron_variant,8.442,0.0000607091,EXAC_SAS_AF,KARS
390742,16:75664415:G>GA,NM_001130089.1:c.1423-10dup,\N,\N,11/14,Unknown significance,\N,intron_variant,\N,0.0000607165,EXAC_SAS_AF,KARS
390743,16:75664415:GAAAGC>G,NM_001130089.1:c.1423-14_1423-10del,\N,\N,11/14,Unknown significance,\N,intron_variant,9.351,0.0000965624,EXAC_AFR_AF,KARS
390744,16:75664418:A>G,NM_001130089.1:c.1423-12T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,7.618,0.000347383,EXAC_EAS_AF,KARS
390745,16:75664421:A>G,NM_001130089.1:c.1423-15T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,10.77,0.000116279,EVS_EA_AF,KARS
390746,16:75664430:T>C,NM_001130089.1:c.1423-24A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,6.01,0.000121507,EXAC_SAS_AF,KARS
390747,16:75664445:G>T,NM_001130089.1:c.1423-39C>A,\N,\N,11/14,Unknown significance,\N,intron_variant,8.382,0.000015078,EXAC_NFE_AF,KARS
390748,16:75664447:A>G,NM_001130089.1:c.1423-41T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,10.16,\N,\N,KARS
390749,16:75664448:T>C,NM_001130089.1:c.1423-42A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,9.692,0.0000966931,EXAC_AFR_AF,KARS
390750,16:75664450:G>C,NM_001130089.1:c.1423-44C>G,\N,\N,11/14,Unknown significance,\N,intron_variant,5.616,0.0000608643,EXAC_SAS_AF,KARS
390751,16:75664456:G>A,NM_001130089.1:c.1423-50C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,10.97,0.0000609236,EXAC_SAS_AF,KARS
390752,16:75664459:C>T,NM_001130089.1:c.1423-53G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,9.085,0.0014,1KG_AMR_AF,KARS
390753,16:75664494:C>A,NM_001130089.1:c.1423-88G>T,\N,\N,11/14,Unknown significance,\N,intron_variant,4.589,0.0008,1KG_AFR_AF,KARS
390754,16:75664499:G>T,NM_001130089.1:c.1423-93C>A,\N,\N,11/14,Unknown significance,\N,intron_variant,5.264,0.0023,1KG_AFR_AF,KARS
390755,16:75664524:A>C,NM_001130089.1:c.1423-118T>G,\N,\N,11/14,Unknown significance,\N,intron_variant,2.748,\N,\N,KARS
390756,16:75664524:AT>A,NM_001130089.1:c.1423-119del,\N,\N,11/14,Unknown significance,\N,intron_variant,5.073,\N,\N,KARS
390757,16:75664525:T>TTTA,NM_001130089.1:c.1423-122_1423-120dup,\N,\N,11/14,Unknown significance,\N,intron_variant,1.077,\N,\N,KARS
390758,16:75664525:TTTA>T,NM_001130089.1:c.1423-122_1423-120del,\N,\N,11/14,Benign,\N,intron_variant,7.077,0.75,1KG_EAS_AF,KARS
390759,16:75664548:TA>T,NM_001130089.1:c.1423-143del,\N,\N,11/14,Unknown significance,\N,intron_variant,3.511,\N,\N,KARS
390760,16:75664564:C>T,NM_001130089.1:c.1423-158G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,0.084,0.001,1KG_EAS_AF,KARS
390761,16:75664572:C>T,NM_001130089.1:c.1423-166G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,0.99,\N,\N,KARS
390762,16:75664573:G>A,NM_001130089.1:c.1423-167C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,2.141,0.001,1KG_SAS_AF,KARS
390763,16:75664643:G>A,NM_001130089.1:c.1423-237C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,2.03,\N,\N,KARS
390764,16:75664648:T>A,NM_001130089.1:c.1423-242A>T,\N,\N,11/14,Benign,\N,intron_variant,5.834,0.0169,1KG_EAS_AF,KARS
390765,16:75664648:T>C,NM_001130089.1:c.1423-242A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,2.984,\N,\N,KARS
390766,16:75664666:G>C,NM_001130089.1:c.1423-260C>G,\N,\N,11/14,Unknown significance,\N,intron_variant,1.217,0.001,1KG_EAS_AF,KARS
390767,16:75664678:G>A,NM_001130089.1:c.1423-272C>T,\N,\N,11/14,Benign,\N,intron_variant,1.634,0.0586,1KG_EUR_AF,KARS
390768,16:75664698:C>T,NM_001130089.1:c.1423-292G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,2.781,0.002,1KG_SAS_AF,KARS
390769,16:75664718:A>C,NM_001130089.1:c.1423-312T>G,\N,\N,11/14,Unknown significance,\N,intron_variant,2.74,0.001,1KG_SAS_AF,KARS
390770,16:75664729:C>T,NM_001130089.1:c.1423-323G>A,\N,\N,11/14,Benign,\N,intron_variant,10.75,0.0174,1KG_AFR_AF,KARS
390771,16:75664807:A>G,NM_001130089.1:c.1422+259T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,6.045,0.001,1KG_EAS_AF,KARS
390772,16:75664817:G>A,NM_001130089.1:c.1422+249C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,6.528,\N,\N,KARS
390773,16:75664840:T>C,NM_001130089.1:c.1422+226A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,5.818,\N,\N,KARS
390774,16:75664859:C>T,NM_001130089.1:c.1422+207G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,3.038,\N,\N,KARS
390775,16:75664860:G>A,NM_001130089.1:c.1422+206C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,2.422,\N,\N,KARS
390776,16:75664876:A>G,NM_001130089.1:c.1422+190T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,6.02,\N,\N,KARS
390777,16:75664882:A>C,NM_001130089.1:c.1422+184T>G,\N,\N,11/14,Unknown significance,\N,intron_variant,6.158,0.003,1KG_EAS_AF,KARS
390778,16:75664891:T>G,NM_001130089.1:c.1422+175A>C,\N,\N,11/14,Unknown significance,\N,intron_variant,15.71,0.0008,1KG_AFR_AF,KARS
390779,16:75664894:G>C,NM_001130089.1:c.1422+172C>G,\N,\N,11/14,Unknown significance,\N,intron_variant,13.94,0.002,1KG_SAS_AF,KARS
390780,16:75664897:C>T,NM_001130089.1:c.1422+169G>A,\N,\N,11/14,Benign,\N,intron_variant,16.02,0.0885,1KG_AFR_AF,KARS
390781,16:75664949:G>C,NM_001130089.1:c.1422+117C>G,\N,\N,11/14,Benign,\N,intron_variant,1.657,0.0051,1KG_SAS_AF,KARS
390782,16:75665005:G>A,NM_001130089.1:c.1422+61C>T,\N,\N,11/14,Benign,\N,intron_variant,5.151,0.4909,1KG_AFR_AF,KARS
390783,16:75665006:G>A,NM_001130089.1:c.1422+60C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,2.998,\N,\N,KARS
390784,16:75665009:A>G,NM_001130089.1:c.1422+57T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,2.373,0.0014,1KG_AMR_AF,KARS
390785,16:75665010:G>A,NM_001130089.1:c.1422+56C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,1.517,0.0014,1KG_AMR_AF,KARS
390786,16:75665016:A>G,NM_001130089.1:c.1422+50T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,3.362,\N,\N,KARS
390787,16:75665018:C>T,NM_001130089.1:c.1422+48G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,5.381,0.0000396857,EXAC_NFE_AF,KARS
390788,16:75665019:A>G,NM_001130089.1:c.1422+47T>C,\N,\N,11/14,Benign,\N,intron_variant,4.915,0.892206,EXAC_EAS_AF,KARS
390789,16:75665025:C>A,NM_001130089.1:c.1422+41G>T,\N,\N,11/14,Unknown significance,\N,intron_variant,8.234,0.000116306,EVS_EA_AF,KARS
390790,16:75665028:C>T,NM_001130089.1:c.1422+38G>A,\N,\N,11/14,Unknown significance,\N,intron_variant,3.555,0.000018915,EXAC_NFE_AF,KARS
390791,16:75665032:T>C,NM_001130089.1:c.1422+34A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,4.234,0.000479042,EXAC_AMR_AF,KARS
390792,16:75665042:T>C,NM_001130089.1:c.1422+24A>G,\N,\N,11/14,Unknown significance,\N,intron_variant,2.247,0.000584283,EXAC_EAS_AF,KARS
390793,16:75665050:G>C,NM_001130089.1:c.1422+16C>G,\N,\N,11/14,Unknown significance,\N,intron_variant,0.867,0.000142248,EXAC_EAS_AF,KARS
390794,16:75665053:A>G,NM_001130089.1:c.1422+13T>C,\N,\N,11/14,Unknown significance,\N,intron_variant,2.659,0.0000682035,EXAC_SAS_AF,KARS
390795,16:75665053:AGG>A,NM_001130089.1:c.1422+11_1422+12del,\N,\N,11/14,Unknown significance,\N,intron_variant,0.88,0.000697156,EXAC_EAS_AF,KARS
390796,16:75665055:G>A,NM_001130089.1:c.1422+11C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,2.638,0.0000174923,EXAC_NFE_AF,KARS
390797,16:75665056:G>A,NM_001130089.1:c.1422+10C>T,\N,\N,11/14,Unknown significance,\N,intron_variant,8.814,0.000137855,EXAC_EAS_AF,KARS
390798,16:75665057:C>G,NM_001130089.1:c.1422+9G>C,\N,\N,11/14,Unknown significance,\N,intron_variant,13.51,0.0000173424,EXAC_NFE_AF,KARS
390799,16:75665069:G>C,NM_005548.2:c.1335C>G,NP_005539.1:p.Asp445Glu,10/14,\N,Unknown significance,\N,missense_variant,26.2,0.0000164037,EXAC_NFE_AF,KARS
390800,16:75665092:G>A,NM_001130089.1:c.1396C>T,NP_001123561.1:p.Arg466Trp,11/15,\N,Pathogenic,Visual loss| progressive microcephaly| developmental delay| seizures| and abnormal subcortical white matter,missense_variant,33,0.0000924385,EXAC_AMR_AF,KARS
390801,16:75665096:T>C,NM_001130089.1:c.1392A>G,NP_001123561.1:p.Pro464=,11/15,\N,Unknown significance,\N,synonymous_variant,8.808,0.00001557,EXAC_NFE_AF,KARS
390802,16:75665098:G>A,NM_001130089.1:c.1390C>T,NP_001123561.1:p.Pro464Ser,11/15,\N,Unknown significance,\N,missense_variant,23.2,0.0000631712,EXAC_SAS_AF,KARS
390803,16:75665100:G>C,NM_005548.2:c.1304C>G,NP_005539.1:p.Pro435Arg,10/14,\N,Unknown significance,\N,missense_variant,29.3,0.0000310308,EXAC_NFE_AF,KARS
390804,16:75665102:G>A,NM_001130089.1:c.1386C>T,NP_001123561.1:p.Cys462=,11/15,\N,Unknown significance,\N,synonymous_variant,11.77,0.0000154947,EXAC_NFE_AF,KARS
390805,16:75665106:T>C,NM_005548.2:c.1298A>G,NP_005539.1:p.Glu433Gly,10/14,\N,Unknown significance,\N,missense_variant,33,0.00022748,EVS_AA_AF,KARS
390806,16:75665110:C>T,NM_001130089.1:c.1378G>A,NP_001123561.1:p.Val460Ile,11/15,\N,Likely benign,\N,missense_variant,19.1,0.000116279,EVS_EA_AF,KARS
390807,16:75665117:T>G,NM_001130089.1:c.1371A>C,NP_001123561.1:p.Ala457=,11/15,\N,Unknown significance,\N,synonymous_variant,10.95,0.0000905305,EXAC_AMR_AF,KARS
390808,16:75665118:G>A,NM_001130089.1:c.1370C>T,NP_001123561.1:p.Ala457Val,11/15,\N,Unknown significance,\N,missense_variant,23.2,0.0000625,EXAC_SAS_AF,KARS
390809,16:75665119:CCA>C,NM_001130089.1:c.1367_1368del,NP_001123561.1:p.Val456GlyfsTer5,11/15,\N,Unknown significance,\N,frameshift_variant,35,0.0000154245,EXAC_NFE_AF,KARS
390810,16:75665126:G>C,NM_001130089.1:c.1362C>G,NP_001123561.1:p.Ile454Met,11/15,\N,Unknown significance,\N,missense_variant,26,0.000116279,EVS_EA_AF,KARS
390811,16:75665127:A>C,NM_001130089.1:c.1361T>G,NP_001123561.1:p.Ile454Ser,11/15,\N,Unknown significance,\N,missense_variant,29.4,0.000118737,EXAC_EAS_AF,KARS
390812,16:75665128:TATC>T,NM_001130089.1:c.1357_1359del,NP_001123561.1:p.Asp453del,11/15,\N,Unknown significance,\N,inframe_deletion,23.2,\N,\N,KARS
390813,16:75665129:A>G,NM_001130089.1:c.1359T>C,NP_001123561.1:p.Asp453=,11/15,\N,Unknown significance,\N,synonymous_variant,8.429,0.000323311,EXAC_FIN_AF,KARS
390814,16:75665133:T>C,NM_005548.2:c.1271A>G,NP_005539.1:p.Asp424Gly,10/14,\N,Unknown significance,\N,missense_variant,26.1,0.0000154135,EXAC_NFE_AF,KARS
390815,16:75665134:C>G,NM_005548.2:c.1270G>C,NP_005539.1:p.Asp424His,10/14,\N,Unknown significance,\N,missense_variant,27.3,\N,\N,KARS
390816,16:75665134:C>T,NM_001130089.1:c.1354G>A,NP_001123561.1:p.Asp452Asn,11/15,\N,Unknown significance,\N,missense_variant,23.9,\N,\N,KARS
390817,16:75665139:A>G,NM_001130089.1:c.1349T>C,NP_001123561.1:p.Ile450Thr,11/15,\N,Unknown significance,\N,missense_variant,24.3,0.000119674,EXAC_EAS_AF,KARS
390818,16:75665140:T>G,NM_001130089.1:c.1348A>C,NP_001123561.1:p.Ile450Leu,11/15,\N,Unknown significance,\N,missense_variant,23,0.0000154497,EXAC_NFE_AF,KARS
390819,16:75665142:T>C,NM_001130089.1:c.1346A>G,NP_001123561.1:p.Lys449Arg,11/15,\N,Unknown significance,\N,missense_variant,19.05,0.002,1KG_SAS_AF,KARS
390820,16:75665145:C>T,NM_001130089.1:c.1343G>A,NP_001123561.1:p.Arg448His,11/15,\N,Unknown significance,\N,missense_variant,24.4,0.001,1KG_EAS_AF,KARS
390821,16:75665146:G>A,NM_001130089.1:c.1342C>T,NP_001123561.1:p.Arg448Cys,11/15,\N,Unknown significance,\N,missense_variant,33,0.00302326,EVS_EA_AF,KARS
390822,16:75665148:G>A,NM_001130089.1:c.1340C>T,NP_001123561.1:p.Thr447Ile,11/15,\N,Unknown significance,\N,missense_variant,23.5,0.000300421,EXAC_AFR_AF,KARS
390823,16:75665154:G>A,NM_001130089.1:c.1337-3C>T,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant,10.91,0.000909918,EVS_AA_AF,KARS
390824,16:75665155:G>C,NM_001130089.1:c.1337-4C>G,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant,4.564,0.0000623441,EXAC_SAS_AF,KARS
390825,16:75665156:G>T,NM_001130089.1:c.1337-5C>A,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant,6.206,0.000116279,EVS_EA_AF,KARS
390826,16:75665160:CA>C,NM_001130089.1:c.1337-10del,\N,\N,10/14,Unknown significance,\N,intron_variant,11.48,0.000015554,EXAC_NFE_AF,KARS
390827,16:75665160:C>T,NM_001130089.1:c.1337-9G>A,\N,\N,10/14,Unknown significance,\N,intron_variant,8.856,0.000200965,EXAC_AFR_AF,KARS
390828,16:75665164:T>A,NM_001130089.1:c.1337-13A>T,\N,\N,10/14,Unknown significance,\N,intron_variant,5.038,\N,\N,KARS
390829,16:75665176:G>A,NM_001130089.1:c.1337-25C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,7.453,0.0000922679,EXAC_AMR_AF,KARS
390830,16:75665180:G>A,NM_001130089.1:c.1337-29C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,7.989,\N,\N,KARS
390831,16:75665181:G>A,NM_001130089.1:c.1337-30C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,6.493,0.000123762,EXAC_EAS_AF,KARS
390832,16:75665190:C>T,NM_001130089.1:c.1337-39G>A,\N,\N,10/14,Unknown significance,\N,intron_variant,8.244,0.0000933184,EXAC_AMR_AF,KARS
390833,16:75665192:C>G,NM_001130089.1:c.1337-41G>C,\N,\N,10/14,Unknown significance,\N,intron_variant,3.186,0.000116279,EVS_EA_AF,KARS
390834,16:75665192:C>T,NM_001130089.1:c.1337-41G>A,\N,\N,10/14,Unknown significance,\N,intron_variant,3.952,0.000101399,EXAC_AFR_AF,KARS
390835,16:75665194:A>G,NM_001130089.1:c.1337-43T>C,\N,\N,10/14,Unknown significance,\N,intron_variant,8.673,0.0000317108,EXAC_NFE_AF,KARS
390836,16:75665195:G>C,NM_001130089.1:c.1337-44C>G,\N,\N,10/14,Unknown significance,\N,intron_variant,5.266,0.0000158846,EXAC_NFE_AF,KARS
390837,16:75665201:T>C,NM_001130089.1:c.1337-50A>G,\N,\N,10/14,Unknown significance,\N,intron_variant,6.789,0.0000159058,EXAC_NFE_AF,KARS
390838,16:75665209:T>C,NM_001130089.1:c.1337-58A>G,\N,\N,10/14,Unknown significance,\N,intron_variant,7.069,\N,\N,KARS
390839,16:75665222:T>C,NM_001130089.1:c.1337-71A>G,\N,\N,10/14,Unknown significance,\N,intron_variant,2.972,0.0008,1KG_AFR_AF,KARS
390840,16:75665227:TG>T,NM_001130089.1:c.1337-77del,\N,\N,10/14,Benign,\N,intron_variant,11.97,0.7004,1KG_EAS_AF,KARS
390841,16:75665228:G>T,NM_001130089.1:c.1337-77C>A,\N,\N,10/14,Unknown significance,\N,intron_variant,10.99,\N,\N,KARS
390842,16:75665235:T>G,NM_001130089.1:c.1336+79A>C,\N,\N,10/14,Unknown significance,\N,intron_variant,11.3,0.001,1KG_EAS_AF,KARS
390843,16:75665236:C>A,NM_001130089.1:c.1336+78G>T,\N,\N,10/14,Unknown significance,\N,intron_variant,8.346,0.0008,1KG_AFR_AF,KARS
390844,16:75665270:G>A,NM_001130089.1:c.1336+44C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,5.224,0.0000605914,EXAC_SAS_AF,KARS
390845,16:75665274:G>A,NM_001130089.1:c.1336+40C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,7.776,0.0000300129,EXAC_NFE_AF,KARS
390846,16:75665279:G>T,NM_001130089.1:c.1336+35C>A,\N,\N,10/14,Unknown significance,\N,intron_variant,4.316,0.0000605914,EXAC_SAS_AF,KARS
390847,16:75665280:C>T,NM_001130089.1:c.1336+34G>A,\N,\N,10/14,Unknown significance,\N,intron_variant,6.381,0.0000605914,EXAC_SAS_AF,KARS
390848,16:75665285:C>A,NM_001130089.1:c.1336+29G>T,\N,\N,10/14,Unknown significance,\N,intron_variant,1.553,0.0000150047,EXAC_NFE_AF,KARS
390849,16:75665286:A>T,NM_001130089.1:c.1336+28T>A,\N,\N,10/14,Unknown significance,\N,intron_variant,2.307,0.0000963948,EXAC_AFR_AF,KARS
390850,16:75665288:C>T,NM_001130089.1:c.1336+26G>A,\N,\N,10/14,Unknown significance,\N,intron_variant,1.339,0.00022748,EVS_AA_AF,KARS
390851,16:75665289:G>A,NM_001130089.1:c.1336+25C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,4.998,0.000231374,EXAC_EAS_AF,KARS
390852,16:75665290:G>C,NM_001130089.1:c.1336+24C>G,\N,\N,10/14,Unknown significance,\N,intron_variant,1.461,0.0043,1KG_AMR_AF,KARS
390853,16:75665293:G>A,NM_001130089.1:c.1336+21C>T,\N,\N,10/14,Unknown significance,\N,intron_variant,4.563,0.00011566,EXAC_EAS_AF,KARS
390854,16:75665304:G>C,NM_001130089.1:c.1336+10C>G,\N,\N,10/14,Unknown significance,\N,intron_variant,0.8,0.0000964134,EXAC_AFR_AF,KARS
390855,16:75665305:T>G,NM_001130089.1:c.1336+9A>C,\N,\N,10/14,Unknown significance,\N,intron_variant,17.71,0.00025956,EXAC_AMR_AF,KARS
390856,16:75665309:T>C,NM_001130089.1:c.1336+5A>G,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant,10.07,\N,\N,KARS
390857,16:75665328:A>G,NM_001130089.1:c.1322T>C,NP_001123561.1:p.Leu441Pro,10/15,\N,Unknown significance,\N,missense_variant,15.74,\N,\N,KARS
390858,16:75665330:G>A,NM_001130089.1:c.1320C>T,NP_001123561.1:p.Asn440=,10/15,\N,Unknown significance,\N,synonymous_variant,2.316,0.0000149997,EXAC_NFE_AF,KARS
390859,16:75665333:C>T,NM_001130089.1:c.1317G>A,NP_001123561.1:p.Thr439=,10/15,\N,Unknown significance,\N,synonymous_variant,10.7,\N,\N,KARS
390860,16:75665334:G>A,NM_005548.2:c.1232C>T,NP_005539.1:p.Thr411Met,9/14,\N,Unknown significance,\N,missense_variant,24.3,0.0000864902,EXAC_AMR_AF,KARS
390861,16:75665337:T>C,NM_001130089.1:c.1313A>G,NP_001123561.1:p.Glu438Gly,10/15,\N,Unknown significance,\N,missense_variant,23.4,\N,\N,KARS
390862,16:75665351:C>A,NM_001130089.1:c.1299G>T,NP_001123561.1:p.Gly433=,10/15,\N,Unknown significance,\N,synonymous_variant,17.16,0.001,1KG_EAS_AF,KARS
390863,16:75665353:C>T,NM_001130089.1:c.1297G>A,NP_001123561.1:p.Gly433Arg,10/15,\N,Unknown significance,\N,missense_variant,33,0.00022748,EVS_AA_AF,KARS
390864,16:75665362:T>C,NM_001130089.1:c.1288A>G,NP_001123561.1:p.Lys430Glu,10/15,\N,Unknown significance,\N,missense_variant,14.95,0.0000605694,EXAC_SAS_AF,KARS
390865,16:75665379:A>G,NM_001130089.1:c.1271T>C,NP_001123561.1:p.Met424Thr,10/15,\N,Unknown significance,\N,missense_variant,27.1,0.000116279,EVS_EA_AF,KARS
390866,16:75665382:T>C,NM_001130089.1:c.1268A>G,NP_001123561.1:p.Asn423Ser,10/15,\N,Likely benign,\N,missense_variant,0.146,0.000014993,EXAC_NFE_AF,KARS
390867,16:75665385:A>C,NM_001130089.1:c.1265T>G,NP_001123561.1:p.Ile422Ser,10/15,\N,Unknown significance,\N,missense_variant,29.8,0.0000149939,EXAC_NFE_AF,KARS
390868,16:75665386:T>C,NM_001130089.1:c.1264A>G,NP_001123561.1:p.Ile422Val,10/15,\N,Unknown significance,\N,missense_variant,10.21,0.0000449829,EXAC_NFE_AF,KARS
390869,16:75665388:C>T,NM_001130089.1:c.1262G>A,NP_001123561.1:p.Arg421Gln,10/15,\N,Unknown significance,\N,missense_variant,31,0.00221902,EXAC_NFE_AF,KARS
390870,16:75665391:C>A,NM_001130089.1:c.1259G>T,NP_001123561.1:p.Arg420Leu,10/15,\N,Unknown significance,\N,missense_variant,27.9,0.0000963763,EXAC_AFR_AF,KARS
390871,16:75665391:C>T,NM_001130089.1:c.1259G>A,NP_001123561.1:p.Arg420Gln,10/15,\N,Unknown significance,\N,missense_variant,24.6,0.00110375,EXAC_OTH_AF,KARS
390872,16:75665393:G>A,NM_001130089.1:c.1257C>T,NP_001123561.1:p.Phe419=,10/15,\N,Unknown significance,\N,synonymous_variant,10.53,0.0000449816,EXAC_NFE_AF,KARS
390873,16:75665396:G>T,NM_001130089.1:c.1254C>A,NP_001123561.1:p.Pro418=,10/15,\N,Unknown significance,\N,synonymous_variant,6.009,0.000302847,EXAC_SAS_AF,KARS
390874,16:75665397:G>T,NM_001130089.1:c.1253C>A,NP_001123561.1:p.Pro418His,10/15,\N,Unknown significance,\N,missense_variant,28.6,0.0000149934,EXAC_NFE_AF,KARS
390875,16:75665403:G>A,NM_001130089.1:c.1247C>T,NP_001123561.1:p.Thr416Ile,10/15,\N,Unknown significance,\N,missense_variant,24.6,0.0000299886,EXAC_NFE_AF,KARS
390876,16:75665405:G>A,NM_001130089.1:c.1245C>T,NP_001123561.1:p.Phe415=,10/15,\N,Benign,\N,synonymous_variant,11.42,0.00797503,EXAC_EAS_AF,KARS
390877,16:75665408:G>A,NM_001130089.1:c.1242C>T,NP_001123561.1:p.Asp414=,10/15,\N,Unknown significance,\N,synonymous_variant,6.197,0.001,1KG_SAS_AF,KARS
390878,16:75665415:T>A,NM_001130089.1:c.1235A>T,NP_001123561.1:p.Asp412Val,10/15,\N,Unknown significance,\N,missense_variant,19.48,0.0000149943,EXAC_NFE_AF,KARS
390879,16:75665416:C>A,NM_001130089.1:c.1234G>T,NP_001123561.1:p.Asp412Tyr,10/15,\N,Unknown significance,\N,missense_variant,23.3,0.00030248,EXAC_FIN_AF,KARS
390880,16:75665416:C>T,NM_001130089.1:c.1234G>A,NP_001123561.1:p.Asp412Asn,10/15,\N,Unknown significance,\N,missense_variant,18.52,\N,\N,KARS
390881,16:75665417:G>A,NM_001130089.1:c.1233C>T,NP_001123561.1:p.Tyr411=,10/15,\N,Unknown significance,\N,synonymous_variant,0.109,0.00022748,EVS_AA_AF,KARS
390882,16:75665423:T>C,NM_001130089.1:c.1227A>G,NP_001123561.1:p.Gln409=,10/15,\N,Unknown significance,\N,synonymous_variant,0.046,\N,\N,KARS
390883,16:75665444:G>A,NM_001130089.1:c.1206C>T,NP_001123561.1:p.His402=,10/15,\N,Unknown significance,\N,synonymous_variant,8.134,0.000060562,EXAC_SAS_AF,KARS
390884,16:75665445:T>C,NM_005548.2:c.1121A>G,NP_005539.1:p.His374Arg,9/14,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,KARS
390885,16:75665448:T>C,NM_001130089.1:c.1202A>G,NP_001123561.1:p.Tyr401Cys,10/15,\N,Unknown significance,\N,missense_variant,26,0.000060562,EXAC_SAS_AF,KARS
390886,16:75665451:G>C,NM_001130089.1:c.1199C>G,NP_001123561.1:p.Thr400Ser,10/15,\N,Unknown significance,\N,missense_variant,14.17,0.000060562,EXAC_SAS_AF,KARS
390887,16:75665453:G>A,NM_001130089.1:c.1197C>T,NP_001123561.1:p.Val399=,10/15,\N,Unknown significance,\N,synonymous_variant,7.182,0.0000149934,EXAC_NFE_AF,KARS
390888,16:75665454:A>C,NM_001130089.1:c.1196T>G,NP_001123561.1:p.Val399Gly,10/15,\N,Unknown significance,\N,missense_variant,25.2,0.0000605694,EXAC_SAS_AF,KARS
390889,16:75665456:C>T,NM_001130089.1:c.1194G>A,NP_001123561.1:p.Lys398=,10/15,\N,Unknown significance,\N,synonymous_variant,10.04,\N,\N,KARS
390890,16:75665463:C>A,NM_005548.2:c.1103G>T,NP_005539.1:p.Ser368Ile,9/14,\N,Unknown significance,\N,missense_variant,24,0.000385431,EXAC_AFR_AF,KARS
390891,16:75665469:G>A,NM_001130089.1:c.1181C>T,NP_001123561.1:p.Thr394Ile,10/15,\N,Unknown significance,\N,missense_variant,18.12,0.000518852,EXAC_AMR_AF,KARS
390892,16:75665474:A>G,NM_001130089.1:c.1176T>C,NP_001123561.1:p.His392=,10/15,\N,Unknown significance,\N,synonymous_variant,0.173,0.0000599718,EXAC_NFE_AF,KARS
390893,16:75665475:T>C,NM_001130089.1:c.1175A>G,NP_001123561.1:p.His392Arg,10/15,\N,Unknown significance,\N,missense_variant,11.68,0.0000605694,EXAC_SAS_AF,KARS
390894,16:75665482:C>T,NM_001130089.1:c.1168G>A,NP_001123561.1:p.Val390Met,10/15,\N,Unknown significance,\N,missense_variant,28.7,0.0000299859,EXAC_NFE_AF,KARS
390895,16:75665486:C>A,NM_001130089.1:c.1164G>T,NP_001123561.1:p.Gly388=,10/15,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.28,\N,\N,KARS
390896,16:75665486:C>G,NM_001130089.1:c.1164G>C,NP_001123561.1:p.Gly388=,10/15,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.758,0.0015,1KG_AFR_AF,KARS
390897,16:75665488:C>G,NM_001130089.1:c.1163-1G>C,\N,\N,9/14,Unknown significance,\N,splice_acceptor_variant,25.9,0.000116279,EVS_EA_AF,KARS
390898,16:75665494:G>A,NM_001130089.1:c.1163-7C>T,\N,\N,9/14,Benign,\N,splice_region_variant&intron_variant,9.917,0.0885,1KG_AFR_AF,KARS
390899,16:75665494:G>T,NM_001130089.1:c.1163-7C>A,\N,\N,9/14,Unknown significance,\N,splice_region_variant&intron_variant,9.522,0.000121153,EXAC_SAS_AF,KARS
390900,16:75665500:C>G,NM_001130089.1:c.1163-13G>C,\N,\N,9/14,Unknown significance,\N,intron_variant,0.757,0.0000962464,EXAC_AFR_AF,KARS
390901,16:75665501:C>T,NM_001130089.1:c.1163-14G>A,\N,\N,9/14,Benign,\N,intron_variant,0.338,0.0068,1KG_AFR_AF,KARS
390902,16:75665508:T>C,NM_001130089.1:c.1163-21A>G,\N,\N,9/14,Unknown significance,\N,intron_variant,2.179,0.0000864006,EXAC_AMR_AF,KARS
390903,16:75665512:C>T,NM_001130089.1:c.1163-25G>A,\N,\N,9/14,Unknown significance,\N,intron_variant,0.033,0.00011558,EXAC_EAS_AF,KARS
390904,16:75665513:G>A,NM_001130089.1:c.1163-26C>T,\N,\N,9/14,Unknown significance,\N,intron_variant,0.027,0.0000149867,EXAC_NFE_AF,KARS
390905,16:75665513:G>T,NM_001130089.1:c.1163-26C>A,\N,\N,9/14,Unknown significance,\N,intron_variant,0.011,0.0000605694,EXAC_SAS_AF,KARS
390906,16:75665531:G>C,NM_001130089.1:c.1163-44C>G,\N,\N,9/14,Unknown significance,\N,intron_variant,10.87,0.0000149853,EXAC_NFE_AF,KARS
390907,16:75665537:C>T,NM_001130089.1:c.1163-50G>A,\N,\N,9/14,Unknown significance,\N,intron_variant,13.69,0.0008,1KG_AFR_AF,KARS
390908,16:75665539:C>T,NM_001130089.1:c.1162+52G>A,\N,\N,9/14,Unknown significance,\N,intron_variant,13.07,0.0000599413,EXAC_NFE_AF,KARS
390909,16:75665541:G>A,NM_001130089.1:c.1162+50C>T,\N,\N,9/14,Unknown significance,\N,intron_variant,11.64,0.0000149849,EXAC_NFE_AF,KARS
390910,16:75665543:A>G,NM_001130089.1:c.1162+48T>C,\N,\N,9/14,Unknown significance,\N,intron_variant,12.92,0.000232558,EVS_EA_AF,KARS
390911,16:75665562:C>T,NM_001130089.1:c.1162+29G>A,\N,\N,9/14,Unknown significance,\N,intron_variant,0.339,0.0000960984,EXAC_AFR_AF,KARS
390912,16:75665565:T>C,NM_001130089.1:c.1162+26A>G,\N,\N,9/14,Unknown significance,\N,intron_variant,0.333,\N,\N,KARS
390913,16:75665571:T>C,NM_001130089.1:c.1162+20A>G,\N,\N,9/14,Unknown significance,\N,intron_variant,0.115,0.001,1KG_EUR_AF,KARS
390914,16:75665571:TGA>T,NM_001130089.1:c.1162+18_1162+19del,\N,\N,9/14,Unknown significance,\N,intron_variant,\N,0.000060562,EXAC_SAS_AF,KARS
390915,16:75665571:TGAGA>T,NM_001130089.1:c.1162+16_1162+19del,\N,\N,9/14,Unknown significance,\N,intron_variant,0.675,0.0000863707,EXAC_AMR_AF,KARS
390916,16:75665571:T>G,NM_001130089.1:c.1162+20A>C,\N,\N,9/14,Unknown significance,\N,intron_variant,0.2,0.000104888,EXAC_NFE_AF,KARS
390917,16:75665576:G>A,NM_001130089.1:c.1162+15C>T,\N,\N,9/14,Unknown significance,\N,intron_variant,0.492,\N,\N,KARS
390918,16:75665576:G>T,NM_001130089.1:c.1162+15C>A,\N,\N,9/14,Unknown significance,\N,intron_variant,0.147,0.000115554,EXAC_EAS_AF,KARS
390919,16:75665577:A>C,NM_001130089.1:c.1162+14T>G,\N,\N,9/14,Unknown significance,\N,intron_variant,0.194,0.00022748,EVS_AA_AF,KARS
390920,16:75665578:G>C,NM_001130089.1:c.1162+13C>G,\N,\N,9/14,Unknown significance,\N,intron_variant,0.125,0.000014984,EXAC_NFE_AF,KARS
390921,16:75665583:G>A,NM_001130089.1:c.1162+8C>T,\N,\N,9/14,Unknown significance,\N,splice_region_variant&intron_variant,8.229,0.000518224,EXAC_AMR_AF,KARS
390922,16:75665586:G>C,NM_001130089.1:c.1162+5C>G,\N,\N,9/14,Unknown significance,\N,splice_region_variant&intron_variant,10.95,0.0000960984,EXAC_AFR_AF,KARS
390923,16:75665610:G>T,NM_001130089.1:c.1143C>A,NP_001123561.1:p.Ile381=,9/15,\N,Unknown significance,\N,synonymous_variant,12.13,0.000029967,EXAC_NFE_AF,KARS
390924,16:75665618:T>C,NM_001130089.1:c.1135A>G,NP_001123561.1:p.Met379Val,9/15,\N,Unknown significance,\N,missense_variant,24.9,0.000345483,EXAC_AMR_AF,KARS
390925,16:75665624:C>T,NM_001130089.1:c.1129G>A,NP_001123561.1:p.Asp377Asn,9/15,\N,Pathogenic,Hearing impairment| nonsyndromic| autosomal recessive,missense_variant,34,\N,\N,KARS
390926,16:75665626:T>C,NM_001130089.1:c.1127A>G,NP_001123561.1:p.His376Arg,9/15,\N,Unknown significance,\N,missense_variant,11.55,\N,\N,KARS
390927,16:75665628:AT>A,NM_001130089.1:c.1124del,NP_001123561.1:p.Tyr375PhefsTer16,9/15,\N,Unknown significance,\N,frameshift_variant,35,0.0000149835,EXAC_NFE_AF,KARS
390928,16:75665633:C>G,NM_001130089.1:c.1120G>C,NP_001123561.1:p.Asp374His,9/15,\N,Unknown significance,\N,missense_variant,32,0.000060562,EXAC_SAS_AF,KARS
390929,16:75665667:C>A,NM_001130089.1:c.1086G>T,NP_001123561.1:p.Glu362Asp,9/15,\N,Unknown significance,\N,missense_variant,28.2,0.0000149835,EXAC_NFE_AF,KARS
390930,16:75665679:C>G,NM_001130089.1:c.1074G>C,NP_001123561.1:p.Thr358=,9/15,\N,Unknown significance,\N,synonymous_variant,12.11,0.0000449546,EXAC_NFE_AF,KARS
390931,16:75665679:C>T,NM_001130089.1:c.1074G>A,NP_001123561.1:p.Thr358=,9/15,\N,Unknown significance,\N,synonymous_variant,14.68,0.0000961169,EXAC_AFR_AF,KARS
390932,16:75665680:G>A,NM_001130089.1:c.1073C>T,NP_001123561.1:p.Thr358Met,9/15,\N,Unknown significance,\N,missense_variant,33,0.000172741,EXAC_AMR_AF,KARS
390933,16:75665690:T>C,NM_001130089.1:c.1063A>G,NP_001123561.1:p.Ile355Val,9/15,\N,Unknown significance,\N,missense_variant,25.9,0.000121139,EXAC_SAS_AF,KARS
390934,16:75665691:C>T,NM_001130089.1:c.1062G>A,NP_001123561.1:p.Gly354=,9/15,\N,Unknown significance,\N,synonymous_variant,13.06,0.00011558,EXAC_EAS_AF,KARS
390935,16:75665701:C>T,NM_001130089.1:c.1052G>A,NP_001123561.1:p.Arg351Gln,9/15,\N,Unknown significance,\N,missense_variant,35,0.0000299742,EXAC_NFE_AF,KARS
390936,16:75665702:G>A,NM_001130089.1:c.1051C>T,NP_001123561.1:p.Arg351Trp,9/15,\N,Unknown significance,\N,missense_variant,34,0.0000149871,EXAC_NFE_AF,KARS
390937,16:75665703:G>C,NM_001130089.1:c.1050C>G,NP_001123561.1:p.Phe350Leu,9/15,\N,Unknown significance,\N,missense_variant,28.4,0.0000149871,EXAC_NFE_AF,KARS
390938,16:75665709:G>T,NM_001130089.1:c.1044C>A,NP_001123561.1:p.Arg348=,9/15,\N,Unknown significance,\N,synonymous_variant,9.051,0.0000605694,EXAC_SAS_AF,KARS
390939,16:75665710:C>T,NM_001130089.1:c.1043G>A,NP_001123561.1:p.Arg348His,9/15,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_SAS_AF,KARS
390940,16:75665715:A>G,NM_001130089.1:c.1038T>C,NP_001123561.1:p.Ile346=,9/15,\N,Unknown significance,\N,synonymous_variant,8.779,0.0000605694,EXAC_SAS_AF,KARS
390941,16:75665725:A>G,NM_001130089.1:c.1028T>C,NP_001123561.1:p.Val343Ala,9/15,\N,Unknown significance,\N,missense_variant,27.3,0.000116279,EVS_EA_AF,KARS
390942,16:75665728:C>T,NM_001130089.1:c.1025G>A,NP_001123561.1:p.Arg342Gln,9/15,\N,Unknown significance,\N,missense_variant,28.9,0.0000149907,EXAC_NFE_AF,KARS
390943,16:75665729:G>C,NM_005548.2:c.940C>G,NP_005539.1:p.Arg314Gly,8/14,\N,Unknown significance,\N,missense_variant,31,0.0000863856,EXAC_AMR_AF,KARS
390944,16:75665738:C>T,NM_001130089.1:c.1015G>A,NP_001123561.1:p.Gly339Ser,9/15,\N,Unknown significance,\N,missense_variant,34,0.0000149934,EXAC_NFE_AF,KARS
390945,16:75665755:TAAC>T,NM_001130089.1:c.1000-5_1000-3del,\N,\N,8/14,Unknown significance,\N,splice_region_variant&intron_variant,12.98,0.000363592,EXAC_SAS_AF,KARS
390946,16:75665756:A>G,NM_001130089.1:c.1000-3T>C,\N,\N,8/14,Unknown significance,\N,splice_region_variant&intron_variant,9.829,0.0000149997,EXAC_NFE_AF,KARS
390947,16:75665758:C>T,NM_001130089.1:c.1000-5G>A,\N,\N,8/14,Unknown significance,\N,splice_region_variant&intron_variant,8.777,0.000181862,EXAC_SAS_AF,KARS
390948,16:75665763:A>C,NM_001130089.1:c.1000-10T>G,\N,\N,8/14,Unknown significance,\N,intron_variant,10.93,0.000116279,EVS_EA_AF,KARS
390949,16:75665774:C>G,NM_001130089.1:c.1000-21G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,6.196,0.0000300363,EXAC_NFE_AF,KARS
390950,16:75665774:C>T,NM_001130089.1:c.1000-21G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,7.313,0.0000606281,EXAC_SAS_AF,KARS
390951,16:75665780:T>A,NM_001130089.1:c.1000-27A>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.062,0.000519211,EXAC_AMR_AF,KARS
390952,16:75665784:A>G,NM_001130089.1:c.1000-31T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,4.108,0.000432751,EXAC_AMR_AF,KARS
390953,16:75665790:T>C,NM_001130089.1:c.1000-37A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,7.182,0.0000607312,EXAC_SAS_AF,KARS
390954,16:75665791:C>CT,NM_001130089.1:c.1000-39dup,\N,\N,8/14,Unknown significance,\N,intron_variant,9.324,\N,\N,KARS
390955,16:75665791:CT>C,NM_001130089.1:c.1000-39del,\N,\N,8/14,Unknown significance,\N,intron_variant,9.417,\N,\N,KARS
390956,16:75665791:CTT>C,NM_001130089.1:c.1000-40_1000-39del,\N,\N,8/14,Unknown significance,\N,intron_variant,9.629,\N,\N,KARS
390957,16:75665797:T>C,NM_001130089.1:c.1000-44A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,6.165,0.0000150889,EXAC_NFE_AF,KARS
390958,16:75665802:T>G,NM_001130089.1:c.1000-49A>C,\N,\N,8/14,Unknown significance,\N,intron_variant,8.473,\N,\N,KARS
390959,16:75665803:G>A,NM_001130089.1:c.1000-50C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.296,0.000151332,EXAC_FIN_AF,KARS
390960,16:75665805:G>C,NM_001130089.1:c.1000-52C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,4.426,0.0000302352,EXAC_NFE_AF,KARS
390961,16:75665805:G>T,NM_001130089.1:c.1000-52C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,5.974,0.0000151176,EXAC_NFE_AF,KARS
390962,16:75665807:T>C,NM_001130089.1:c.1000-54A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,6.642,\N,\N,KARS
390963,16:75665819:C>G,NM_001130089.1:c.1000-66G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,4.191,\N,\N,KARS
390964,16:75665837:G>T,NM_001130089.1:c.1000-84C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.97,0.001,1KG_EAS_AF,KARS
390965,16:75665838:T>C,NM_001130089.1:c.1000-85A>G,\N,\N,8/14,Benign,\N,intron_variant,2.192,0.0204,1KG_SAS_AF,KARS
390966,16:75665853:T>G,NM_001130089.1:c.1000-100A>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.952,\N,\N,KARS
390967,16:75665861:C>T,NM_001130089.1:c.1000-108G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.583,\N,\N,KARS
390968,16:75665862:C>T,NM_001130089.1:c.1000-109G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,1.542,\N,\N,KARS
390969,16:75665863:G>A,NM_001130089.1:c.1000-110C>T,\N,\N,8/14,Benign,\N,intron_variant,0.096,0.0522,1KG_AFR_AF,KARS
390970,16:75665871:C>T,NM_001130089.1:c.1000-118G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.129,0.001,1KG_SAS_AF,KARS
390971,16:75665872:G>A,NM_001130089.1:c.1000-119C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,1.391,0.0008,1KG_AFR_AF,KARS
390972,16:75665897:T>C,NM_001130089.1:c.1000-144A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,2.737,\N,\N,KARS
390973,16:75665900:C>T,NM_001130089.1:c.1000-147G>A,\N,\N,8/14,Benign,\N,intron_variant,2.701,0.0149,1KG_EUR_AF,KARS
390974,16:75665933:G>C,NM_001130089.1:c.1000-180C>G,\N,\N,8/14,Benign,\N,intron_variant,0.331,0.4032,1KG_AFR_AF,KARS
390975,16:75665939:C>T,NM_001130089.1:c.1000-186G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.443,\N,\N,KARS
390976,16:75665942:C>T,NM_001130089.1:c.1000-189G>A,\N,\N,8/14,Benign,\N,intron_variant,0.16,0.0552,1KG_SAS_AF,KARS
390977,16:75665944:C>G,NM_001130089.1:c.1000-191G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,0.911,0.001,1KG_EUR_AF,KARS
390978,16:75665993:G>C,NM_001130089.1:c.1000-240C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.691,\N,\N,KARS
390979,16:75666007:C>T,NM_001130089.1:c.1000-254G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.259,\N,\N,KARS
390980,16:75666008:G>A,NM_001130089.1:c.1000-255C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,1.609,0.0015,1KG_AFR_AF,KARS
390981,16:75666022:A>T,NM_001130089.1:c.1000-269T>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.689,\N,\N,KARS
390982,16:75666041:G>A,NM_001130089.1:c.1000-288C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,4.352,\N,\N,KARS
390983,16:75666047:C>G,NM_001130089.1:c.1000-294G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,2.47,\N,\N,KARS
390984,16:75666081:C>T,NM_001130089.1:c.1000-328G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,8.895,0.0008,1KG_AFR_AF,KARS
390985,16:75666083:C>T,NM_001130089.1:c.1000-330G>A,\N,\N,8/14,Benign,\N,intron_variant,7.887,0.006,1KG_EUR_AF,KARS
390986,16:75666112:C>T,NM_001130089.1:c.1000-359G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,3.189,\N,\N,KARS
390987,16:75666122:A>G,NM_001130089.1:c.1000-369T>C,\N,\N,8/14,Benign,\N,intron_variant,7.611,0.028,1KG_AFR_AF,KARS
390988,16:75666142:C>T,NM_001130089.1:c.1000-389G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.92,0.0038,1KG_AFR_AF,KARS
390989,16:75666166:G>A,NM_001130089.1:c.1000-413C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,4.517,\N,\N,KARS
390990,16:75666169:T>C,NM_001130089.1:c.1000-416A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,3.419,0.0023,1KG_AFR_AF,KARS
390991,16:75666177:G>T,NM_001130089.1:c.1000-424C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.297,0.001,1KG_SAS_AF,KARS
390992,16:75666202:C>T,NM_001130089.1:c.1000-449G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,5.983,\N,\N,KARS
390993,16:75666213:T>C,NM_001130089.1:c.1000-460A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,2.237,0.002,1KG_EAS_AF,KARS
390994,16:75666241:CT>C,NM_001130089.1:c.1000-489del,\N,\N,8/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
390995,16:75666269:A>G,NM_001130089.1:c.1000-516T>C,\N,\N,8/14,Benign,\N,intron_variant,4.767,0.0083,1KG_AFR_AF,KARS
390996,16:75666283:G>A,NM_001130089.1:c.1000-530C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,6.634,\N,\N,KARS
390997,16:75666304:C>T,NM_001130089.1:c.1000-551G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,5.328,\N,\N,KARS
390998,16:75666311:TC>T,NM_001130089.1:c.1000-559del,\N,\N,8/14,Unknown significance,\N,intron_variant,7.772,0.003,1KG_AFR_AF,KARS
390999,16:75666314:C>T,NM_001130089.1:c.1000-561G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,9.871,\N,\N,KARS
391000,16:75666350:C>T,NM_001130089.1:c.1000-597G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.004,\N,\N,KARS
391001,16:75666351:G>A,NM_001130089.1:c.1000-598C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,0.657,0.0031,1KG_SAS_AF,KARS
391002,16:75666362:G>A,NM_001130089.1:c.1000-609C>T,\N,\N,8/14,Benign,\N,intron_variant,1.154,0.0051,1KG_SAS_AF,KARS
391003,16:75666375:G>T,NM_001130089.1:c.1000-622C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.063,0.0031,1KG_SAS_AF,KARS
391004,16:75666399:G>A,NM_001130089.1:c.1000-646C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,8.021,0.0008,1KG_AFR_AF,KARS
391005,16:75666407:C>G,NM_001130089.1:c.1000-654G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,4.781,0.001,1KG_EAS_AF,KARS
391006,16:75666408:T>A,NM_001130089.1:c.1000-655A>T,\N,\N,8/14,Unknown significance,\N,intron_variant,8.075,\N,\N,KARS
391007,16:75666422:G>A,NM_001130089.1:c.1000-669C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,6.732,0.001,1KG_SAS_AF,KARS
391008,16:75666431:T>C,NM_001130089.1:c.1000-678A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.788,\N,\N,KARS
391009,16:75666443:T>C,NM_001130089.1:c.1000-690A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.229,0.001,1KG_SAS_AF,KARS
391010,16:75666465:G>A,NM_001130089.1:c.1000-712C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,2.571,\N,\N,KARS
391011,16:75666480:C>CA,NM_001130089.1:c.1000-728dup,\N,\N,8/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391012,16:75666492:C>T,NM_001130089.1:c.1000-739G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,1.938,\N,\N,KARS
391013,16:75666493:G>A,NM_001130089.1:c.1000-740C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,4.623,0.0008,1KG_AFR_AF,KARS
391014,16:75666508:C>T,NM_001130089.1:c.1000-755G>A,\N,\N,8/14,Benign,\N,intron_variant,2.19,0.0099,1KG_EAS_AF,KARS
391015,16:75666510:A>T,NM_001130089.1:c.1000-757T>A,\N,\N,8/14,Benign,\N,intron_variant,4.307,0.008,1KG_EUR_AF,KARS
391016,16:75666560:G>A,NM_001130089.1:c.1000-807C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,5.885,\N,\N,KARS
391017,16:75666619:T>C,NM_001130089.1:c.1000-866A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,4.151,\N,\N,KARS
391018,16:75666638:G>A,NM_001130089.1:c.1000-885C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,6.483,\N,\N,KARS
391019,16:75666648:G>A,NM_001130089.1:c.1000-895C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.41,\N,\N,KARS
391020,16:75666655:T>C,NM_001130089.1:c.1000-902A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.992,0.0008,1KG_AFR_AF,KARS
391021,16:75666669:G>T,NM_001130089.1:c.1000-916C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.674,\N,\N,KARS
391022,16:75666704:A>G,NM_001130089.1:c.1000-951T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,1.532,\N,\N,KARS
391023,16:75666708:G>GA,NM_001130089.1:c.1000-956dup,\N,\N,8/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391024,16:75666714:T>C,NM_001130089.1:c.1000-961A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.287,0.001,1KG_SAS_AF,KARS
391025,16:75666723:G>A,NM_001130089.1:c.1000-970C>T,\N,\N,8/14,Benign,\N,intron_variant,5.579,0.7014,1KG_EAS_AF,KARS
391026,16:75666730:G>A,NM_001130089.1:c.1000-977C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,5.57,0.001,1KG_EAS_AF,KARS
391027,16:75666734:T>C,NM_001130089.1:c.1000-981A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,4.333,0.0008,1KG_AFR_AF,KARS
391028,16:75666765:T>C,NM_001130089.1:c.1000-1012A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.187,0.001,1KG_SAS_AF,KARS
391029,16:75666768:G>A,NM_001130089.1:c.1000-1015C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,1.219,\N,\N,KARS
391030,16:75666769:T>C,NM_001130089.1:c.1000-1016A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.824,0.0008,1KG_AFR_AF,KARS
391031,16:75666775:G>C,NM_001130089.1:c.1000-1022C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.074,0.0014,1KG_AMR_AF,KARS
391032,16:75666796:G>A,NM_001130089.1:c.1000-1043C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,2.865,\N,\N,KARS
391033,16:75666798:C>G,NM_001130089.1:c.1000-1045G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,0.297,0.001,1KG_EUR_AF,KARS
391034,16:75666804:G>C,NM_001130089.1:c.1000-1051C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1,\N,\N,KARS
391035,16:75666813:G>A,NM_001130089.1:c.1000-1060C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,3.682,\N,\N,KARS
391036,16:75666844:G>A,NM_001130089.1:c.1000-1091C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,1.848,\N,\N,KARS
391037,16:75666873:G>C,NM_001130089.1:c.1000-1120C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.274,0.0008,1KG_AFR_AF,KARS
391038,16:75666883:C>T,NM_001130089.1:c.1000-1130G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,1.742,0.001,1KG_SAS_AF,KARS
391039,16:75666889:T>C,NM_001130089.1:c.1000-1136A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.17,0.001,1KG_EUR_AF,KARS
391040,16:75666893:C>T,NM_001130089.1:c.1000-1140G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,4.067,\N,\N,KARS
391041,16:75666906:C>G,NM_001130089.1:c.1000-1153G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,1.74,0.0008,1KG_AFR_AF,KARS
391042,16:75666919:TG>T,NM_001130089.1:c.999+1151del,\N,\N,8/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391043,16:75666920:G>T,NM_001130089.1:c.999+1151C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.111,\N,\N,KARS
391044,16:75666928:G>A,NM_001130089.1:c.999+1143C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,3.156,0.001,1KG_EAS_AF,KARS
391045,16:75666929:T>C,NM_001130089.1:c.999+1142A>G,\N,\N,8/14,Benign,\N,intron_variant,0.103,0.062,1KG_AFR_AF,KARS
391046,16:75666944:G>C,NM_001130089.1:c.999+1127C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.821,\N,\N,KARS
391047,16:75666971:A>G,NM_001130089.1:c.999+1100T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,0.673,\N,\N,KARS
391048,16:75666978:C>T,NM_001130089.1:c.999+1093G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,3.298,0.0008,1KG_AFR_AF,KARS
391049,16:75666994:C>A,NM_001130089.1:c.999+1077G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,6.756,\N,\N,KARS
391050,16:75666998:G>C,NM_001130089.1:c.999+1073C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.036,\N,\N,KARS
391051,16:75667013:G>C,NM_001130089.1:c.999+1058C>G,\N,\N,8/14,Benign,\N,intron_variant,1.314,0.8353,1KG_EAS_AF,KARS
391052,16:75667020:A>C,NM_001130089.1:c.999+1051T>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.986,0.001,1KG_EAS_AF,KARS
391053,16:75667071:A>G,NM_001130089.1:c.999+1000T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,5.029,\N,\N,KARS
391054,16:75667098:G>C,NM_001130089.1:c.999+973C>G,\N,\N,8/14,Benign,\N,intron_variant,0.095,0.0091,1KG_AFR_AF,KARS
391055,16:75667099:G>C,NM_001130089.1:c.999+972C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.479,0.004,1KG_EUR_AF,KARS
391056,16:75667102:C>T,NM_001130089.1:c.999+969G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,5.866,\N,\N,KARS
391057,16:75667106:C>T,NM_001130089.1:c.999+965G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,6.008,0.001,1KG_EAS_AF,KARS
391058,16:75667107:G>T,NM_001130089.1:c.999+964C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.479,\N,\N,KARS
391059,16:75667111:T>G,NM_001130089.1:c.999+960A>C,\N,\N,8/14,Unknown significance,\N,intron_variant,2.886,0.001,1KG_SAS_AF,KARS
391060,16:75667135:G>A,NM_001130089.1:c.999+936C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,2.138,0.003,1KG_EAS_AF,KARS
391061,16:75667145:G>A,NM_001130089.1:c.999+926C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,3.794,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
391062,16:75667152:C>T,NM_001130089.1:c.999+919G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,4.818,\N,\N,KARS
391063,16:75667175:A>G,NM_001130089.1:c.999+896T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,2.971,0.003,1KG_AFR_AF,KARS
391064,16:75667187:G>T,NM_001130089.1:c.999+884C>A,\N,\N,8/14,Unknown significance,\N,intron_variant,1.905,0.001,1KG_SAS_AF,KARS
391065,16:75667205:C>T,NM_001130089.1:c.999+866G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.723,\N,\N,KARS
391066,16:75667208:C>T,NM_001130089.1:c.999+863G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.371,0.0015,1KG_AFR_AF,KARS
391067,16:75667217:C>T,NM_001130089.1:c.999+854G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,3.597,0.003,1KG_EUR_AF,KARS
391068,16:75667219:G>C,NM_001130089.1:c.999+852C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,0.138,0.004,1KG_EUR_AF,KARS
391069,16:75667238:C>G,NM_001130089.1:c.999+833G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,6.81,0.0038,1KG_AFR_AF,KARS
391070,16:75667238:C>T,NM_001130089.1:c.999+833G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,8.074,\N,\N,KARS
391071,16:75667243:C>A,NM_001130089.1:c.999+828G>T,\N,\N,8/14,Benign,\N,intron_variant,9.784,0.0626,1KG_EUR_AF,KARS
391072,16:75667269:C>A,NM_001130089.1:c.999+802G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,9.26,\N,\N,KARS
391073,16:75667277:A>G,NM_001130089.1:c.999+794T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,7.616,\N,\N,KARS
391074,16:75667278:T>C,NM_001130089.1:c.999+793A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.679,0.002,1KG_EAS_AF,KARS
391075,16:75667297:A>G,NM_001130089.1:c.999+774T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,0.947,\N,\N,KARS
391076,16:75667315:A>G,NM_001130089.1:c.999+756T>C,\N,\N,8/14,Benign,\N,intron_variant,1.732,0.0212,1KG_AFR_AF,KARS
391077,16:75667315:A>T,NM_001130089.1:c.999+756T>A,\N,\N,8/14,Benign,\N,intron_variant,0.98,0.0101,1KG_AMR_AF,KARS
391078,16:75667347:C>A,NM_001130089.1:c.999+724G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,0.399,\N,\N,KARS
391079,16:75667357:A>G,NM_001130089.1:c.999+714T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,1.668,0.001,1KG_SAS_AF,KARS
391080,16:75667365:T>C,NM_001130089.1:c.999+706A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.05,\N,\N,KARS
391081,16:75667413:C>CT,NM_001130089.1:c.999+657dup,\N,\N,8/14,Unknown significance,\N,intron_variant,3.782,\N,\N,KARS
391082,16:75667413:C>CTT,NM_001130089.1:c.999+656_999+657dup,\N,\N,8/14,Unknown significance,\N,intron_variant,3.61,\N,\N,KARS
391083,16:75667413:C>G,NM_001130089.1:c.999+658G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,1.985,0.0008,1KG_AFR_AF,KARS
391084,16:75667439:G>A,NM_001130089.1:c.999+632C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,0.073,\N,\N,KARS
391085,16:75667462:C>G,NM_001130089.1:c.999+609G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,2.435,\N,\N,KARS
391086,16:75667479:G>A,NM_001130089.1:c.999+592C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.734,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
391087,16:75667489:C>A,NM_001130089.1:c.999+582G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.16,0.001,1KG_SAS_AF,KARS
391088,16:75667501:C>T,NM_001130089.1:c.999+570G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.452,\N,\N,KARS
391089,16:75667503:C>T,NM_001130089.1:c.999+568G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,1.124,\N,\N,KARS
391090,16:75667508:C>T,NM_001130089.1:c.999+563G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.05,\N,\N,KARS
391091,16:75667509:G>A,NM_001130089.1:c.999+562C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,0.466,\N,\N,KARS
391092,16:75667572:C>G,NM_001130089.1:c.999+499G>C,\N,\N,8/14,Benign,\N,intron_variant,0.039,0.005,1KG_EUR_AF,KARS
391093,16:75667572:C>T,NM_001130089.1:c.999+499G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,0.093,0.002,1KG_EAS_AF,KARS
391094,16:75667600:A>T,NM_001130089.1:c.999+471T>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.376,0.001,1KG_EUR_AF,KARS
391095,16:75667616:T>C,NM_001130089.1:c.999+455A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,2.909,\N,\N,KARS
391096,16:75667649:A>C,NM_001130089.1:c.999+422T>G,\N,\N,8/14,Benign,\N,intron_variant,4.154,0.0893,1KG_AFR_AF,KARS
391097,16:75667665:T>C,NM_001130089.1:c.999+406A>G,\N,\N,8/14,Benign,\N,intron_variant,4.549,0.0174,1KG_AFR_AF,KARS
391098,16:75667669:C>T,NM_001130089.1:c.999+402G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,3.861,0.0023,1KG_AFR_AF,KARS
391099,16:75667703:C>T,NM_001130089.1:c.999+368G>A,\N,\N,8/14,Benign,\N,intron_variant,0.136,0.0068,1KG_AFR_AF,KARS
391100,16:75667704:G>A,NM_001130089.1:c.999+367C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,1.664,0.001,1KG_EAS_AF,KARS
391101,16:75667791:C>T,NM_001130089.1:c.999+280G>A,\N,\N,8/14,Benign,\N,intron_variant,2.242,0.7014,1KG_EAS_AF,KARS
391102,16:75667795:A>C,NM_001130089.1:c.999+276T>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.161,\N,\N,KARS
391103,16:75667810:A>G,NM_001130089.1:c.999+261T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.824,0.0008,1KG_AFR_AF,KARS
391104,16:75667829:T>C,NM_001130089.1:c.999+242A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,7.451,0.001,1KG_EAS_AF,KARS
391105,16:75667874:C>T,NM_001130089.1:c.999+197G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,2.751,0.001,1KG_EAS_AF,KARS
391106,16:75667876:C>G,NM_001130089.1:c.999+195G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.419,\N,\N,KARS
391107,16:75667876:C>T,NM_001130089.1:c.999+195G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,4.768,\N,\N,KARS
391108,16:75667902:G>A,NM_001130089.1:c.999+169C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.739,0.0008,1KG_AFR_AF,KARS
391109,16:75667903:T>C,NM_001130089.1:c.999+168A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,7.668,0.003,1KG_AFR_AF,KARS
391110,16:75667905:G>A,NM_001130089.1:c.999+166C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,7.912,\N,\N,KARS
391111,16:75667954:C>T,NM_001130089.1:c.999+117G>A,\N,\N,8/14,Benign,\N,intron_variant,3.823,0.4856,1KG_AFR_AF,KARS
391112,16:75667962:T>G,NM_001130089.1:c.999+109A>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.021,0.0000152854,EXAC_NFE_AF,KARS
391113,16:75667977:C>A,NM_001130089.1:c.999+94G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,4.29,0.0008,1KG_AFR_AF,KARS
391114,16:75667977:C>G,NM_001130089.1:c.999+94G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.046,\N,\N,KARS
391115,16:75667980:T>G,NM_001130089.1:c.999+91A>C,\N,\N,8/14,Unknown significance,\N,intron_variant,4.781,0.00224215,EXAC_OTH_AF,KARS
391116,16:75667981:G>A,NM_001130089.1:c.999+90C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,3.19,0.00112108,EXAC_OTH_AF,KARS
391117,16:75667984:C>T,NM_001130089.1:c.999+87G>A,\N,\N,8/14,Unknown significance,\N,intron_variant,7.646,0.00010469,EXAC_AFR_AF,KARS
391118,16:75667987:C>G,NM_001130089.1:c.999+84G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,3.55,0.0000152202,EXAC_NFE_AF,KARS
391119,16:75667989:T>C,NM_001130089.1:c.999+82A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.935,0.001,1KG_EUR_AF,KARS
391120,16:75667997:A>C,NM_001130089.1:c.999+74T>G,\N,\N,8/14,Unknown significance,\N,intron_variant,4.446,0.0000867453,EXAC_AMR_AF,KARS
391121,16:75667998:C>A,NM_001130089.1:c.999+73G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,5.316,0.0000867453,EXAC_AMR_AF,KARS
391122,16:75668001:T>C,NM_001130089.1:c.999+70A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,3.628,0.00112474,EXAC_AFR_AF,KARS
391123,16:75668003:C>A,NM_001130089.1:c.999+68G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,5.259,0.000101729,EXAC_AFR_AF,KARS
391124,16:75668007:T>A,NM_001130089.1:c.999+64A>T,\N,\N,8/14,Unknown significance,\N,intron_variant,6.185,\N,\N,KARS
391125,16:75668009:T>A,NM_001130089.1:c.999+62A>T,\N,\N,8/14,Unknown significance,\N,intron_variant,5.988,0.0000866251,EXAC_AMR_AF,KARS
391126,16:75668010:A>T,NM_001130089.1:c.999+61T>A,\N,\N,8/14,Unknown significance,\N,intron_variant,5.744,0.000363725,EXAC_SAS_AF,KARS
391127,16:75668015:G>C,NM_001130089.1:c.999+56C>G,\N,\N,8/14,Benign,\N,intron_variant,2.204,0.0079,1KG_EAS_AF,KARS
391128,16:75668015:GT>G,NM_001130089.1:c.999+55del,\N,\N,8/14,Unknown significance,\N,intron_variant,8.393,0.0000865651,EXAC_AMR_AF,KARS
391129,16:75668016:T>C,NM_001130089.1:c.999+55A>G,\N,\N,8/14,Unknown significance,\N,intron_variant,8.423,0.0000150784,EXAC_NFE_AF,KARS
391130,16:75668017:G>C,NM_001130089.1:c.999+54C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,5.802,0.0023,1KG_AFR_AF,KARS
391131,16:75668033:G>A,NM_001130089.1:c.999+38C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,11.24,0.001,1KG_SAS_AF,KARS
391132,16:75668037:C>A,NM_001130089.1:c.999+34G>T,\N,\N,8/14,Unknown significance,\N,intron_variant,12.59,0.00015124,EXAC_FIN_AF,KARS
391133,16:75668044:G>A,NM_001130089.1:c.999+27C>T,\N,\N,8/14,Unknown significance,\N,intron_variant,10.68,0.0000605767,EXAC_SAS_AF,KARS
391134,16:75668046:A>G,NM_001130089.1:c.999+25T>C,\N,\N,8/14,Unknown significance,\N,intron_variant,7.769,0.0000149993,EXAC_NFE_AF,KARS
391135,16:75668050:G>C,NM_001130089.1:c.999+21C>G,\N,\N,8/14,Unknown significance,\N,intron_variant,1.38,0.0000605767,EXAC_SAS_AF,KARS
391136,16:75668056:ACT>A,NM_001130089.1:c.999+13_999+14del,\N,\N,8/14,Unknown significance,\N,intron_variant,3.327,0.0000863856,EXAC_AMR_AF,KARS
391137,16:75668057:C>G,NM_001130089.1:c.999+14G>C,\N,\N,8/14,Unknown significance,\N,intron_variant,0.351,0.0000605694,EXAC_SAS_AF,KARS
391138,16:75668063:C>T,NM_001130089.1:c.999+8G>A,\N,\N,8/14,Unknown significance,\N,splice_region_variant&intron_variant,7.585,0.0000149885,EXAC_NFE_AF,KARS
391139,16:75668072:T>G,NM_001130089.1:c.998A>C,NP_001123561.1:p.Lys333Thr,8/15,\N,Unknown significance,\N,missense_variant&splice_region_variant,30,0.0000149858,EXAC_NFE_AF,KARS
391140,16:75668076:G>C,NM_001130089.1:c.994C>G,NP_001123561.1:p.His332Asp,8/15,\N,Unknown significance,\N,missense_variant,32,0.000115554,EXAC_EAS_AF,KARS
391141,16:75668080:G>C,NM_001130089.1:c.990C>G,NP_001123561.1:p.Leu330=,8/15,\N,Unknown significance,\N,synonymous_variant,11,0.0000149858,EXAC_NFE_AF,KARS
391142,16:75668100:T>C,NM_001130089.1:c.970A>G,NP_001123561.1:p.Met324Val,8/15,\N,Unknown significance,\N,missense_variant,26,0.000116279,EVS_EA_AF,KARS
391143,16:75668104:T>C,NM_001130089.1:c.966A>G,NP_001123561.1:p.Leu322=,8/15,\N,Unknown significance,\N,synonymous_variant,10.04,0.000115554,EXAC_EAS_AF,KARS
391144,16:75668110:C>A,NM_001130089.1:c.960G>T,NP_001123561.1:p.Met320Ile,8/15,\N,Unknown significance,\N,missense_variant,27.2,0.0000149844,EXAC_NFE_AF,KARS
391145,16:75668112:T>C,NM_005548.2:c.874A>G,NP_005539.1:p.Met292Val,7/14,\N,Unknown significance,\N,missense_variant,25.6,0.000348837,EVS_EA_AF,KARS
391146,16:75668114:T>C,NM_001130089.1:c.956A>G,NP_001123561.1:p.Asp319Gly,8/15,\N,Unknown significance,\N,missense_variant,23.2,0.0000149844,EXAC_NFE_AF,KARS
391147,16:75668121:C>T,NM_001130089.1:c.949G>A,NP_001123561.1:p.Glu317Lys,8/15,\N,Unknown significance,\N,missense_variant,28.4,0.00022748,EVS_AA_AF,KARS
391148,16:75668122:G>A,NM_001130089.1:c.948C>T,NP_001123561.1:p.Asn316=,8/15,\N,Unknown significance,\N,synonymous_variant,12.19,0.000384394,EXAC_AFR_AF,KARS
391149,16:75668122:G>T,NM_001130089.1:c.948C>A,NP_001123561.1:p.Asn316Lys,8/15,\N,Unknown significance,\N,missense_variant,24.9,0.000014984,EXAC_NFE_AF,KARS
391150,16:75668131:A>G,NM_001130089.1:c.939T>C,NP_001123561.1:p.Thr313=,8/15,\N,Unknown significance,\N,synonymous_variant,9.452,0.0000599377,EXAC_NFE_AF,KARS
391151,16:75668137:G>A,NM_001130089.1:c.933C>T,NP_001123561.1:p.Phe311=,8/15,\N,Unknown significance,\N,synonymous_variant,13.78,0.000060562,EXAC_SAS_AF,KARS
391152,16:75668143:C>CTTGG,NM_001130089.1:c.923_926dup,NP_001123561.1:p.Lys309AsnfsTer26,8/15,\N,Unknown significance,\N,frameshift_variant,35,0.0000149853,EXAC_NFE_AF,KARS
391153,16:75668143:C>G,NM_005548.2:c.843G>C,NP_005539.1:p.Lys281Asn,7/14,\N,Unknown significance,\N,missense_variant,29.9,0.000116279,EVS_EA_AF,KARS
391154,16:75668151:C>T,NM_001130089.1:c.919G>A,NP_001123561.1:p.Val307Met,8/15,\N,Unknown significance,\N,missense_variant,26.1,0.0000864006,EXAC_AMR_AF,KARS
391155,16:75668152:G>A,NM_001130089.1:c.918C>T,NP_001123561.1:p.Ala306=,8/15,\N,Unknown significance,\N,synonymous_variant,17.08,0.000116279,EVS_EA_AF,KARS
391156,16:75668164:G>C,NM_001130089.1:c.906C>G,NP_001123561.1:p.Ile302Met,8/15,\N,Likely pathogenic,Peripheral neuropathy,missense_variant,25.1,0.000697674,EVS_EA_AF,KARS
391157,16:75668175:T>G,NM_001130089.1:c.895A>C,NP_001123561.1:p.Met299Leu,8/15,\N,Unknown significance,\N,missense_variant,23,0.0000605767,EXAC_SAS_AF,KARS
391158,16:75668179:G>A,NM_001130089.1:c.891C>T,NP_001123561.1:p.Pro297=,8/15,\N,Unknown significance,\N,synonymous_variant,12.04,0.000233318,EXAC_EAS_AF,KARS
391159,16:75668189:A>G,NM_005548.2:c.797T>C,NP_005539.1:p.Ile266Thr,7/14,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.8,0.000346981,EXAC_AMR_AF,KARS
391160,16:75668207:G>A,NM_001130089.1:c.880-17C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.544,0.000682439,EVS_AA_AF,KARS
391161,16:75668214:C>T,NM_001130089.1:c.880-24G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,5.11,0.00022748,EVS_AA_AF,KARS
391162,16:75668215:A>G,NM_001130089.1:c.880-25T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,4.675,0.0000306899,EXAC_NFE_AF,KARS
391163,16:75668216:G>C,NM_001130089.1:c.880-26C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,3.198,0.00022748,EVS_AA_AF,KARS
391164,16:75668218:C>T,NM_001130089.1:c.880-28G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,6.793,0.0015,1KG_AFR_AF,KARS
391165,16:75668228:C>A,NM_001130089.1:c.880-38G>T,\N,\N,7/14,Unknown significance,\N,intron_variant,7.91,0.0000887784,EXAC_AMR_AF,KARS
391166,16:75668231:G>C,NM_001130089.1:c.880-41C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,6.697,0.00124813,EXAC_EAS_AF,KARS
391167,16:75668237:T>C,NM_001130089.1:c.880-47A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,8.123,0.0000896379,EXAC_AMR_AF,KARS
391168,16:75668241:G>A,NM_001130089.1:c.880-51C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,9.561,0.001,1KG_EAS_AF,KARS
391169,16:75668249:C>A,NM_001130089.1:c.880-59G>T,\N,\N,7/14,Benign,\N,intron_variant,8.847,0.0113,1KG_AFR_AF,KARS
391170,16:75668250:A>T,NM_001130089.1:c.880-60T>A,\N,\N,7/14,Benign,\N,intron_variant,7.968,0.0113,1KG_AFR_AF,KARS
391171,16:75668265:T>C,NM_001130089.1:c.880-75A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,10.53,0.0038,1KG_AFR_AF,KARS
391172,16:75668271:C>T,NM_001130089.1:c.880-81G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,6.22,\N,\N,KARS
391173,16:75668272:T>G,NM_001130089.1:c.880-82A>C,\N,\N,7/14,Unknown significance,\N,intron_variant,7.462,\N,\N,KARS
391174,16:75668281:T>C,NM_001130089.1:c.880-91A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,7.098,0.001,1KG_SAS_AF,KARS
391175,16:75668286:C>A,NM_001130089.1:c.880-96G>T,\N,\N,7/14,Unknown significance,\N,intron_variant,7.729,\N,\N,KARS
391176,16:75668306:G>A,NM_001130089.1:c.880-116C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,6.63,\N,\N,KARS
391177,16:75668312:C>A,NM_001130089.1:c.880-122G>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.965,\N,\N,KARS
391178,16:75668325:G>A,NM_001130089.1:c.880-135C>T,\N,\N,7/14,Benign,\N,intron_variant,5.724,0.7004,1KG_EAS_AF,KARS
391179,16:75668358:C>T,NM_001130089.1:c.880-168G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.951,\N,\N,KARS
391180,16:75668359:G>A,NM_001130089.1:c.880-169C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,1.07,0.001,1KG_EAS_AF,KARS
391181,16:75668363:G>T,NM_001130089.1:c.880-173C>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.976,0.0014,1KG_AMR_AF,KARS
391182,16:75668409:G>A,NM_001130089.1:c.880-219C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,1.288,0.001,1KG_EAS_AF,KARS
391183,16:75668426:A>T,NM_001130089.1:c.880-236T>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.078,0.001,1KG_EAS_AF,KARS
391184,16:75668440:A>G,NM_001130089.1:c.880-250T>C,\N,\N,7/14,Benign,\N,intron_variant,3.588,0.0159,1KG_AFR_AF,KARS
391185,16:75668441:T>C,NM_001130089.1:c.880-251A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,3.289,\N,\N,KARS
391186,16:75668457:T>C,NM_001130089.1:c.880-267A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,4.132,0.001,1KG_EUR_AF,KARS
391187,16:75668458:G>C,NM_001130089.1:c.880-268C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,1.463,\N,\N,KARS
391188,16:75668472:G>T,NM_001130089.1:c.880-282C>A,\N,\N,7/14,Benign,\N,intron_variant,4.967,0.0219,1KG_AFR_AF,KARS
391189,16:75668472:GTATT>G,NM_001130089.1:c.880-286_880-283del,\N,\N,7/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391190,16:75668486:T>A,NM_001130089.1:c.880-296A>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.253,0.0014,1KG_AMR_AF,KARS
391191,16:75668534:C>T,NM_001130089.1:c.880-344G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,2.574,\N,\N,KARS
391192,16:75668536:C>T,NM_001130089.1:c.880-346G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.648,\N,\N,KARS
391193,16:75668542:C>T,NM_001130089.1:c.880-352G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,3.597,\N,\N,KARS
391194,16:75668543:G>A,NM_001130089.1:c.880-353C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,3.344,\N,\N,KARS
391195,16:75668551:G>T,NM_001130089.1:c.880-361C>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.173,\N,\N,KARS
391196,16:75668555:G>A,NM_001130089.1:c.880-365C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,3.145,\N,\N,KARS
391197,16:75668559:C>T,NM_001130089.1:c.880-369G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.477,\N,\N,KARS
391198,16:75668560:G>A,NM_001130089.1:c.880-370C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.02,0.0008,1KG_AFR_AF,KARS
391199,16:75668566:T>A,NM_001130089.1:c.880-376A>T,\N,\N,7/14,Unknown significance,\N,intron_variant,1.66,0.0038,1KG_AFR_AF,KARS
391200,16:75668579:T>C,NM_001130089.1:c.880-389A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,1.477,\N,\N,KARS
391201,16:75668586:G>A,NM_001130089.1:c.880-396C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,0.484,\N,\N,KARS
391202,16:75668599:A>T,NM_001130089.1:c.880-409T>A,\N,\N,7/14,Unknown significance,\N,intron_variant,2.124,\N,\N,KARS
391203,16:75668602:T>C,NM_001130089.1:c.880-412A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,0.812,\N,\N,KARS
391204,16:75668605:C>T,NM_001130089.1:c.880-415G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,2.328,\N,\N,KARS
391205,16:75668608:G>A,NM_001130089.1:c.880-418C>T,\N,\N,7/14,Benign,\N,intron_variant,2.773,0.0446,1KG_AFR_AF,KARS
391206,16:75668609:G>A,NM_001130089.1:c.880-419C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.54,\N,\N,KARS
391207,16:75668630:C>T,NM_001130089.1:c.880-440G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.832,0.0008,1KG_AFR_AF,KARS
391208,16:75668633:C>T,NM_001130089.1:c.880-443G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,3.121,0.001,1KG_EUR_AF,KARS
391209,16:75668649:G>A,NM_001130089.1:c.880-459C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,3.005,0.001,1KG_SAS_AF,KARS
391210,16:75668715:T>C,NM_001130089.1:c.880-525A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,0.219,0.001,1KG_EAS_AF,KARS
391211,16:75668724:C>T,NM_001130089.1:c.880-534G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.834,\N,\N,KARS
391212,16:75668757:G>A,NM_001130089.1:c.880-567C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,3.388,\N,\N,KARS
391213,16:75668765:G>A,NM_001130089.1:c.880-575C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,1.452,\N,\N,KARS
391214,16:75668768:C>T,NM_001130089.1:c.880-578G>A,\N,\N,7/14,Benign,\N,intron_variant,1.457,0.3608,1KG_AFR_AF,KARS
391215,16:75668769:G>A,NM_001130089.1:c.880-579C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,0.427,0.002,1KG_EAS_AF,KARS
391216,16:75668778:C>T,NM_001130089.1:c.880-588G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.249,\N,\N,KARS
391217,16:75668795:A>C,NM_001130089.1:c.880-605T>G,\N,\N,7/14,Unknown significance,\N,intron_variant,5.316,\N,\N,KARS
391218,16:75668817:T>C,NM_001130089.1:c.880-627A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,4.63,\N,\N,KARS
391219,16:75668831:T>C,NM_001130089.1:c.880-641A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,3.032,\N,\N,KARS
391220,16:75668832:G>A,NM_001130089.1:c.880-642C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.417,\N,\N,KARS
391221,16:75668835:T>A,NM_001130089.1:c.880-645A>T,\N,\N,7/14,Unknown significance,\N,intron_variant,4.393,0.0014,1KG_AMR_AF,KARS
391222,16:75668853:A>G,NM_001130089.1:c.880-663T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,11.96,0.0014,1KG_AMR_AF,KARS
391223,16:75668867:T>C,NM_001130089.1:c.880-677A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,1.218,\N,\N,KARS
391224,16:75668900:A>G,NM_001130089.1:c.879+678T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,7.048,0.0008,1KG_AFR_AF,KARS
391225,16:75668901:G>A,NM_001130089.1:c.879+677C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,7.05,\N,\N,KARS
391226,16:75668929:C>T,NM_001130089.1:c.879+649G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.822,0.0015,1KG_AFR_AF,KARS
391227,16:75668961:G>A,NM_001130089.1:c.879+617C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,3.869,\N,\N,KARS
391228,16:75668970:T>C,NM_001130089.1:c.879+608A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,2.368,0.0008,1KG_AFR_AF,KARS
391229,16:75668986:A>G,NM_001130089.1:c.879+592T>C,\N,\N,7/14,Benign,\N,intron_variant,1.023,0.0439,1KG_AFR_AF,KARS
391230,16:75668998:T>A,NM_001130089.1:c.879+580A>T,\N,\N,7/14,Unknown significance,\N,intron_variant,4.157,0.001,1KG_EUR_AF,KARS
391231,16:75669091:A>T,NM_001130089.1:c.879+487T>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.453,0.001,1KG_SAS_AF,KARS
391232,16:75669093:A>G,NM_001130089.1:c.879+485T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,1.948,\N,\N,KARS
391233,16:75669140:C>T,NM_001130089.1:c.879+438G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.833,\N,\N,KARS
391234,16:75669163:A>G,NM_001130089.1:c.879+415T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,2.552,\N,\N,KARS
391235,16:75669164:T>C,NM_001130089.1:c.879+414A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,3.612,\N,\N,KARS
391236,16:75669177:T>C,NM_001130089.1:c.879+401A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,5.109,\N,\N,KARS
391237,16:75669210:G>A,NM_001130089.1:c.879+368C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.955,0.0008,1KG_AFR_AF,KARS
391238,16:75669212:G>A,NM_001130089.1:c.879+366C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,2.998,\N,\N,KARS
391239,16:75669221:G>A,NM_001130089.1:c.879+357C>T,\N,\N,7/14,Benign,\N,intron_variant,0.737,0.0083,1KG_AFR_AF,KARS
391240,16:75669257:T>C,NM_001130089.1:c.879+321A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,2.065,\N,\N,KARS
391241,16:75669265:C>T,NM_001130089.1:c.879+313G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,1.036,0.0008,1KG_AFR_AF,KARS
391242,16:75669266:G>A,NM_001130089.1:c.879+312C>T,\N,\N,7/14,Benign,\N,intron_variant,1.177,0.1998,1KG_EUR_AF,KARS
391243,16:75669266:G>T,NM_001130089.1:c.879+312C>A,\N,\N,7/14,Unknown significance,\N,intron_variant,0.246,\N,\N,KARS
391244,16:75669293:AAAAT>A,NM_001130089.1:c.879+281_879+284del,\N,\N,7/14,Benign,\N,intron_variant,2.457,0.1914,1KG_AFR_AF,KARS
391245,16:75669296:A>G,NM_001130089.1:c.879+282T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,2.133,\N,\N,KARS
391246,16:75669325:T>C,NM_001130089.1:c.879+253A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,10.86,0.0031,1KG_SAS_AF,KARS
391247,16:75669328:C>T,NM_001130089.1:c.879+250G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,9.3,0.001,1KG_EAS_AF,KARS
391248,16:75669338:T>C,NM_001130089.1:c.879+240A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,2.228,\N,\N,KARS
391249,16:75669350:CA>C,NM_001130089.1:c.879+227del,\N,\N,7/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391250,16:75669385:A>G,NM_001130089.1:c.879+193T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,7.456,\N,\N,KARS
391251,16:75669401:G>C,NM_001130089.1:c.879+177C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,1.788,0.0031,1KG_SAS_AF,KARS
391252,16:75669423:C>A,NM_001130089.1:c.879+155G>T,\N,\N,7/14,Unknown significance,\N,intron_variant,17.93,0.001,1KG_SAS_AF,KARS
391253,16:75669423:C>T,NM_001130089.1:c.879+155G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,17.94,\N,\N,KARS
391254,16:75669468:A>G,NM_001130089.1:c.879+110T>C,\N,\N,7/14,Unknown significance,\N,intron_variant,6.705,0.001,1KG_EUR_AF|1KG_SAS_AF,KARS
391255,16:75669483:T>C,NM_001130089.1:c.879+95A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,10.94,\N,\N,KARS
391256,16:75669516:G>A,NM_001130089.1:c.879+62C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,6.694,0.000122474,EXAC_SAS_AF,KARS
391257,16:75669518:G>A,NM_001130089.1:c.879+60C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,6.059,0.0000302069,EXAC_NFE_AF,KARS
391258,16:75669519:AGAG>A,NM_001130089.1:c.879+56_879+58del,\N,\N,7/14,Unknown significance,\N,intron_variant,1.997,\N,\N,KARS
391259,16:75669527:A>C,NM_001130089.1:c.879+51T>G,\N,\N,7/14,Unknown significance,\N,intron_variant,0.519,0.000244529,EXAC_SAS_AF,KARS
391260,16:75669528:G>C,NM_001130089.1:c.879+50C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,0.459,0.0029,1KG_AMR_AF,KARS
391261,16:75669533:G>A,NM_001130089.1:c.879+45C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,7.304,0.000061065,EXAC_SAS_AF,KARS
391262,16:75669536:T>C,NM_001130089.1:c.879+42A>G,\N,\N,7/14,Unknown significance,\N,intron_variant,2.347,\N,\N,KARS
391263,16:75669539:C>T,NM_001130089.1:c.879+39G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,6.445,0.0000150539,EXAC_NFE_AF,KARS
391264,16:75669545:A>C,NM_001130089.1:c.879+33T>G,\N,\N,7/14,Unknown significance,\N,intron_variant,6.731,0.0000150403,EXAC_NFE_AF,KARS
391265,16:75669546:G>C,NM_001130089.1:c.879+32C>G,\N,\N,7/14,Unknown significance,\N,intron_variant,6.558,0.0000150417,EXAC_NFE_AF,KARS
391266,16:75669552:C>T,NM_001130089.1:c.879+26G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,9.039,0.0008,1KG_AFR_AF,KARS
391267,16:75669554:C>T,NM_001130089.1:c.879+24G>A,\N,\N,7/14,Unknown significance,\N,intron_variant,5.28,0.000090174,EXAC_NFE_AF,KARS
391268,16:75669556:T>G,NM_001130089.1:c.879+22A>C,\N,\N,7/14,Unknown significance,\N,intron_variant,8.669,0.00022748,EVS_AA_AF,KARS
391269,16:75669564:G>A,NM_001130089.1:c.879+14C>T,\N,\N,7/14,Unknown significance,\N,intron_variant,7.454,\N,\N,KARS
391270,16:75669569:T>TCTC,NM_001130089.1:c.879+6_879+8dup,\N,\N,7/14,Unknown significance,\N,intron_variant,8.5,\N,\N,KARS
391271,16:75669575:T>G,NM_001130089.1:c.879+3A>C,\N,\N,7/14,Unknown significance,\N,splice_region_variant&intron_variant,12.03,0.000693121,EXAC_AMR_AF,KARS
391272,16:75669576:A>T,NM_001130089.1:c.879+2T>A,\N,\N,7/14,Unknown significance,\N,splice_donor_variant,25,0.0000965065,EXAC_AFR_AF,KARS
391273,16:75669586:A>C,NM_001130089.1:c.871T>G,NP_001123561.1:p.Phe291Val,7/15,\N,Unknown significance,\N,missense_variant,30,\N,\N,KARS
391274,16:75669598:C>T,NM_001130089.1:c.859G>A,NP_001123561.1:p.Asp287Asn,7/15,\N,Unknown significance,\N,missense_variant,31,0.0000606134,EXAC_SAS_AF,KARS
391275,16:75669603:A>C,NM_001130089.1:c.854T>G,NP_001123561.1:p.Phe285Cys,7/15,\N,Unknown significance,\N,missense_variant,26.1,0.0000865052,EXAC_AMR_AF,KARS
391276,16:75669605:A>T,NM_001130089.1:c.852T>A,NP_001123561.1:p.Ser284Arg,7/15,\N,Unknown significance,\N,missense_variant,6.417,0.000346821,EXAC_EAS_AF,KARS
391277,16:75669607:T>C,NM_001130089.1:c.850A>G,NP_001123561.1:p.Ser284Gly,7/15,\N,Unknown significance,\N,missense_variant,21.6,0.0000149921,EXAC_NFE_AF,KARS
391278,16:75669614:A>G,NM_001130089.1:c.843T>C,NP_001123561.1:p.Tyr281=,7/15,\N,Unknown significance,\N,synonymous_variant,0.309,0.00288951,EXAC_EAS_AF,KARS
391279,16:75669617:T>C,NM_001130089.1:c.840A>G,NP_001123561.1:p.Thr280=,7/15,\N,Unknown significance,\N,synonymous_variant,6.629,\N,\N,KARS
391280,16:75669622:T>C,NM_001130089.1:c.835A>G,NP_001123561.1:p.Ile279Val,7/15,\N,Likely benign,\N,missense_variant,12.67,0.000302572,EXAC_FIN_AF,KARS
391281,16:75669625:T>C,NM_001130089.1:c.832A>G,NP_001123561.1:p.Ile278Val,7/15,\N,Unknown significance,\N,missense_variant,11.93,0.0000864454,EXAC_AMR_AF,KARS
391282,16:75669626:C>T,NM_001130089.1:c.831G>A,NP_001123561.1:p.Lys277=,7/15,\N,Unknown significance,\N,synonymous_variant,15.51,\N,\N,KARS
391283,16:75669628:T>C,NM_001130089.1:c.829A>G,NP_001123561.1:p.Lys277Glu,7/15,\N,Unknown significance,\N,missense_variant,28.1,0.000115554,EXAC_EAS_AF,KARS
391284,16:75669628:T>G,NM_001130089.1:c.829A>C,NP_001123561.1:p.Lys277Gln,7/15,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,KARS
391285,16:75669633:C>A,NM_001130089.1:c.824G>T,NP_001123561.1:p.Arg275Leu,7/15,\N,Unknown significance,\N,missense_variant,35,0.0000149894,EXAC_NFE_AF,KARS
391286,16:75669633:C>T,NM_001130089.1:c.824G>A,NP_001123561.1:p.Arg275His,7/15,\N,Unknown significance,\N,missense_variant,35,0.0000149894,EXAC_NFE_AF,KARS
391287,16:75669642:A>C,NM_001130089.1:c.815T>G,NP_001123561.1:p.Phe272Cys,7/15,\N,Unknown significance,\N,missense_variant,28,0.000116279,EVS_EA_AF,KARS
391288,16:75669656:A>C,NM_001130089.1:c.801T>G,NP_001123561.1:p.Phe267Leu,7/15,\N,Unknown significance,\N,missense_variant,10.77,0.002,1KG_EUR_AF,KARS
391289,16:75669657:A>G,NM_001130089.1:c.800T>C,NP_001123561.1:p.Phe267Ser,7/15,\N,Unknown significance,\N,missense_variant,12.54,0.0000149876,EXAC_NFE_AF,KARS
391290,16:75669662:A>G,NM_001130089.1:c.795T>C,NP_001123561.1:p.Asn265=,7/15,\N,Unknown significance,\N,synonymous_variant,8.214,0.000116279,EVS_EA_AF,KARS
391291,16:75669667:G>T,NM_001130089.1:c.790C>A,NP_001123561.1:p.Leu264Met,7/15,\N,Unknown significance,\N,missense_variant,10.33,0.0000961538,EXAC_AFR_AF,KARS
391292,16:75669679:A>G,NM_001130089.1:c.778T>C,NP_001123561.1:p.Leu260=,7/15,\N,Unknown significance,\N,synonymous_variant,6.676,0.0000149876,EXAC_NFE_AF,KARS
391293,16:75669681:T>C,NM_001130089.1:c.776A>G,NP_001123561.1:p.Tyr259Cys,7/15,\N,Unknown significance,\N,missense_variant,27.3,0.000115554,EXAC_EAS_AF,KARS
391294,16:75669690:C>T,NM_001130089.1:c.767G>A,NP_001123561.1:p.Arg256His,7/15,\N,Unknown significance,\N,missense_variant,28.7,0.000172741,EXAC_AMR_AF,KARS
391295,16:75669691:G>A,NM_001130089.1:c.766C>T,NP_001123561.1:p.Arg256Cys,7/15,\N,Unknown significance,\N,missense_variant,35,0.0014,1KG_AMR_AF,KARS
391296,16:75669695:C>T,NM_001130089.1:c.762G>A,NP_001123561.1:p.Arg254=,7/15,\N,Unknown significance,\N,synonymous_variant,15.22,0.000116279,EVS_EA_AF,KARS
391297,16:75669697:T>C,NM_001130089.1:c.760A>G,NP_001123561.1:p.Arg254Gly,7/15,\N,Unknown significance,\N,missense_variant,24.2,0.000115554,EXAC_EAS_AF,KARS
391298,16:75669698:T>C,NM_001130089.1:c.759A>G,NP_001123561.1:p.Thr253=,7/15,\N,Unknown significance,\N,synonymous_variant,4.863,0.000014988,EXAC_NFE_AF,KARS
391299,16:75669708:A>G,NM_001130089.1:c.754-5T>C,\N,\N,6/14,Unknown significance,\N,splice_region_variant&intron_variant,10.79,\N,\N,KARS
391300,16:75669713:A>C,NM_001130089.1:c.754-10T>G,\N,\N,6/14,Unknown significance,\N,intron_variant,12.39,0.00022748,EVS_AA_AF,KARS
391301,16:75669715:G>A,NM_001130089.1:c.754-12C>T,\N,\N,6/14,Unknown significance,\N,intron_variant,0.31,0.000014988,EXAC_NFE_AF,KARS
391302,16:75669725:G>C,NM_001130089.1:c.754-22C>G,\N,\N,6/14,Unknown significance,\N,intron_variant,4.515,0.000060562,EXAC_SAS_AF,KARS
391303,16:75669734:G>C,NM_001130089.1:c.754-31C>G,\N,\N,6/14,Unknown significance,\N,intron_variant,0.038,0.004,1KG_EAS_AF,KARS
391304,16:75669743:G>C,NM_001130089.1:c.754-40C>G,\N,\N,6/14,Unknown significance,\N,intron_variant,0.127,0.0000863707,EXAC_AMR_AF,KARS
391305,16:75669747:C>G,NM_001130089.1:c.754-44G>C,\N,\N,6/14,Unknown significance,\N,intron_variant,0.208,\N,\N,KARS
391306,16:75669752:G>A,NM_001130089.1:c.754-49C>T,\N,\N,6/14,Unknown significance,\N,intron_variant,0.722,0.000115554,EXAC_EAS_AF,KARS
391307,16:75669758:T>C,NM_001130089.1:c.753+52A>G,\N,\N,6/14,Unknown significance,\N,intron_variant,8.947,\N,\N,KARS
391308,16:75669763:C>T,NM_001130089.1:c.753+47G>A,\N,\N,6/14,Unknown significance,\N,intron_variant,7.913,0.0008,1KG_AFR_AF,KARS
391309,16:75669767:C>G,NM_001130089.1:c.753+43G>C,\N,\N,6/14,Unknown significance,\N,intron_variant,0.583,0.000302847,EXAC_SAS_AF,KARS
391310,16:75669771:AAGCTAGGAGGCCAC>A,NM_001130089.1:c.753+25_753+38del,\N,\N,6/14,Unknown significance,\N,intron_variant,11.6,\N,\N,KARS
391311,16:75669773:G>C,NM_001130089.1:c.753+37C>G,\N,\N,6/14,Unknown significance,\N,intron_variant,0.038,0.0000864454,EXAC_AMR_AF,KARS
391312,16:75669775:T>A,NM_001130089.1:c.753+35A>T,\N,\N,6/14,Unknown significance,\N,intron_variant,0.568,0.000172891,EXAC_AMR_AF,KARS
391313,16:75669775:T>C,NM_001130089.1:c.753+35A>G,\N,\N,6/14,Unknown significance,\N,intron_variant,0.101,0.00011558,EXAC_EAS_AF,KARS
391314,16:75669775:TAGG>T,NM_001130089.1:c.753+32_753+34del,\N,\N,6/14,Unknown significance,\N,intron_variant,0.926,0.00423472,EXAC_FIN_AF,KARS
391315,16:75669777:G>A,NM_001130089.1:c.753+33C>T,\N,\N,6/14,Unknown significance,\N,intron_variant,0.029,0.0008,1KG_AFR_AF,KARS
391316,16:75669779:A>C,NM_001130089.1:c.753+31T>G,\N,\N,6/14,Unknown significance,\N,intron_variant,0.129,0.000115554,EXAC_EAS_AF,KARS
391317,16:75669780:G>A,NM_001130089.1:c.753+30C>T,\N,\N,6/14,Unknown significance,\N,intron_variant,0.513,0.0000149898,EXAC_NFE_AF,KARS
391318,16:75669787:G>T,NM_001130089.1:c.753+23C>A,\N,\N,6/14,Unknown significance,\N,intron_variant,9.58,0.00011558,EXAC_EAS_AF,KARS
391319,16:75669788:C>G,NM_001130089.1:c.753+22G>C,\N,\N,6/14,Unknown significance,\N,intron_variant,10.06,0.000134924,EXAC_NFE_AF,KARS
391320,16:75669793:A>G,NM_001130089.1:c.753+17T>C,\N,\N,6/14,Unknown significance,\N,intron_variant,7.566,0.000116279,EVS_EA_AF,KARS
391321,16:75669794:G>A,NM_001130089.1:c.753+16C>T,\N,\N,6/14,Unknown significance,\N,intron_variant,7.899,0.000288406,EXAC_AFR_AF,KARS
391322,16:75669803:C>T,NM_001130089.1:c.753+7G>A,\N,\N,6/14,Unknown significance,\N,splice_region_variant&intron_variant,0.051,0.000288351,EXAC_AFR_AF,KARS
391323,16:75669804:G>A,NM_001130089.1:c.753+6C>T,\N,\N,6/14,Unknown significance,\N,splice_region_variant&intron_variant,1.655,0.003,1KG_EAS_AF,KARS
391324,16:75669806:T>C,NM_001130089.1:c.753+4A>G,\N,\N,6/14,Unknown significance,\N,splice_region_variant&intron_variant,0.709,0.0000149903,EXAC_NFE_AF,KARS
391325,16:75669820:A>G,NM_001130089.1:c.743T>C,NP_001123561.1:p.Leu248Pro,6/15,\N,Unknown significance,\N,missense_variant,30,\N,\N,KARS
391326,16:75669821:G>T,NM_001130089.1:c.742C>A,NP_001123561.1:p.Leu248Ile,6/15,\N,Unknown significance,\N,missense_variant,23.9,0.0000149903,EXAC_NFE_AF,KARS
391327,16:75669843:C>T,NM_001130089.1:c.720G>A,NP_001123561.1:p.Met240Ile,6/15,\N,Unknown significance,\N,missense_variant,25.2,0.000116279,EVS_EA_AF,KARS
391328,16:75669845:T>C,NM_001130089.1:c.718A>G,NP_001123561.1:p.Met240Val,6/15,\N,Unknown significance,\N,missense_variant,22.7,0.0000149894,EXAC_NFE_AF,KARS
391329,16:75669856:G>A,NM_001130089.1:c.707C>T,NP_001123561.1:p.Pro236Leu,6/15,\N,Unknown significance,\N,missense_variant,32,0.0000449748,EXAC_NFE_AF,KARS
391330,16:75669857:GAGACA>G,NM_001130089.1:c.701_705del,NP_001123561.1:p.Leu234ProfsTer31,6/15,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,KARS
391331,16:75669861:C>A,NM_001130089.1:c.702G>T,NP_001123561.1:p.Leu234=,6/15,\N,Unknown significance,\N,synonymous_variant,15.94,\N,\N,KARS
391332,16:75669861:C>T,NM_001130089.1:c.702G>A,NP_001123561.1:p.Leu234=,6/15,\N,Unknown significance,\N,synonymous_variant,14.81,0.000693642,EXAC_EAS_AF,KARS
391333,16:75669866:G>A,NM_001130089.1:c.697C>T,NP_001123561.1:p.Leu233=,6/15,\N,Unknown significance,\N,synonymous_variant,10.68,0.001,1KG_EAS_AF,KARS
391334,16:75669867:T>C,NM_001130089.1:c.696A>G,NP_001123561.1:p.Thr232=,6/15,\N,Benign,\N,synonymous_variant,3.972,0.00774336,EXAC_OTH_AF,KARS
391335,16:75669875:C>T,NM_001130089.1:c.688G>A,NP_001123561.1:p.Glu230Lys,6/15,\N,Unknown significance,\N,missense_variant,23.6,0.0014,1KG_AMR_AF,KARS
391336,16:75669878:A>G,NM_001130089.1:c.685T>C,NP_001123561.1:p.Tyr229His,6/15,\N,Benign,\N,missense_variant,3.729,0.0160656,EXAC_EAS_AF,KARS
391337,16:75669878:ACGGAATGATGCTCAG>A,NM_001130089.1:c.670_684del,NP_001123561.1:p.Leu224_Pro228del,6/15,\N,Unknown significance,\N,inframe_deletion,22.2,0.0000149948,EXAC_NFE_AF,KARS
391338,16:75669879:C>T,NM_001130089.1:c.684G>A,NP_001123561.1:p.Pro228=,6/15,\N,Unknown significance,\N,synonymous_variant,16.29,0.00110619,EXAC_OTH_AF,KARS
391339,16:75669880:G>A,NM_005548.2:c.599C>T,NP_005539.1:p.Pro200Leu,5/14,\N,Pathogenic,Development delay| hypotonia & ophthalmoplegia,missense_variant,34,0.00022748,EVS_AA_AF,KARS
391340,16:75669891:C>T,NM_001130089.1:c.672G>A,NP_001123561.1:p.Leu224=,6/15,\N,Unknown significance,\N,synonymous_variant,12.93,0.000909918,EVS_AA_AF,KARS
391341,16:75669892:A>G,NM_001130089.1:c.671T>C,NP_001123561.1:p.Leu224Pro,6/15,\N,Unknown significance,\N,missense_variant,29.1,0.0014,1KG_AMR_AF,KARS
391342,16:75669896:C>G,NM_005548.2:c.583G>C,NP_005539.1:p.Glu195Gln,5/14,\N,Unknown significance,\N,missense_variant,27.6,0.0000149993,EXAC_NFE_AF,KARS
391343,16:75669897:A>AT,NM_001130089.1:c.665_666insA,NP_001123561.1:p.Glu223Ter,6/15,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,KARS
391344,16:75669903:C>T,NM_001130089.1:c.660G>A,NP_001123561.1:p.Lys220=,6/15,\N,Unknown significance,\N,synonymous_variant,14.36,0.0000300066,EXAC_NFE_AF,KARS
391345,16:75669906:G>C,NM_001130089.1:c.657C>G,NP_001123561.1:p.Thr219=,6/15,\N,Unknown significance,\N,synonymous_variant,7.556,0.0000866551,EXAC_AMR_AF,KARS
391346,16:75669907:G>A,NM_001130089.1:c.656C>T,NP_001123561.1:p.Thr219Ile,6/15,\N,Unknown significance,\N,missense_variant,29.6,0.0000150042,EXAC_NFE_AF,KARS
391347,16:75669929:C>T,NM_001130089.1:c.634G>A,NP_001123561.1:p.Val212Ile,6/15,\N,Unknown significance,\N,missense_variant,21.9,0.0008,1KG_AFR_AF,KARS
391348,16:75669938:T>G,NM_001130089.1:c.625A>C,NP_001123561.1:p.Ile209Leu,6/15,\N,Unknown significance,\N,missense_variant,24.4,0.0008,1KG_AFR_AF,KARS
391349,16:75669940:T>C,NM_001130089.1:c.623A>G,NP_001123561.1:p.Asp208Gly,6/15,\N,Unknown significance,\N,missense_variant,28.2,0.001,1KG_EAS_AF,KARS
391350,16:75669942:T>A,NM_001130089.1:c.621A>T,NP_001123561.1:p.Gly207=,6/15,\N,Unknown significance,\N,synonymous_variant,8.628,0.000152207,EXAC_FIN_AF,KARS
391351,16:75669942:T>C,NM_001130089.1:c.621A>G,NP_001123561.1:p.Gly207=,6/15,\N,Unknown significance,\N,synonymous_variant,3.114,0.00022748,EVS_AA_AF,KARS
391352,16:75669943:C>G,NM_001130089.1:c.620G>C,NP_001123561.1:p.Gly207Ala,6/15,\N,Unknown significance,\N,missense_variant,28.2,\N,\N,KARS
391353,16:75669943:C>T,NM_001130089.1:c.620G>A,NP_001123561.1:p.Gly207Glu,6/15,\N,Unknown significance,\N,missense_variant,33,0.0000151332,EXAC_NFE_AF,KARS
391354,16:75669946:C>A,NM_001130089.1:c.617G>T,NP_001123561.1:p.Arg206Leu,6/15,\N,Unknown significance,\N,missense_variant,27.9,0.0000303859,EXAC_NFE_AF,KARS
391355,16:75669946:C>T,NM_005548.2:c.533G>A,NP_005539.1:p.Arg178Gln,5/14,\N,Unknown significance,\N,missense_variant,29,0.001,1KG_EAS_AF,KARS
391356,16:75669947:G>A,NM_001130089.1:c.616C>T,NP_001123561.1:p.Arg206Trp,6/15,\N,Unknown significance,\N,missense_variant,25.9,0.0000615764,EXAC_SAS_AF,KARS
391357,16:75669949:C>T,NM_005548.2:c.530G>A,NP_005539.1:p.Arg177His,5/14,\N,Unknown significance,\N,missense_variant,24,0.0008,1KG_AFR_AF,KARS
391358,16:75669953:G>A,NM_001130089.1:c.610C>T,NP_001123561.1:p.Leu204=,6/15,\N,Unknown significance,\N,synonymous_variant,10.76,0.000124177,EXAC_SAS_AF,KARS
391359,16:75669953:G>C,NM_001130089.1:c.610C>G,NP_001123561.1:p.Leu204Val,6/15,\N,Unknown significance,\N,missense_variant,16.97,0.00022748,EVS_AA_AF,KARS
391360,16:75669955:T>C,NM_001130089.1:c.608A>G,NP_001123561.1:p.Lys203Arg,6/15,\N,Unknown significance,\N,missense_variant,16.5,0.000118203,EXAC_EAS_AF,KARS
391361,16:75669964:A>T,NM_005548.2:c.515T>A,NP_005539.1:p.Ile172Asn,5/14,\N,Unknown significance,\N,missense_variant,24.8,0.0023,1KG_AFR_AF,KARS
391362,16:75669974:ATTC>A,NM_001130089.1:c.586_588del,NP_001123561.1:p.Glu196del,6/15,\N,Unknown significance,\N,inframe_deletion,22.5,0.0000658068,EXAC_SAS_AF,KARS
391363,16:75669981:T>C,NM_001130089.1:c.582A>G,NP_001123561.1:p.Glu194=,6/15,\N,Unknown significance,\N,synonymous_variant,1.183,0.000282326,EXAC_EAS_AF,KARS
391364,16:75669984:T>G,NM_001130089.1:c.579A>C,NP_001123561.1:p.Ser193=,6/15,\N,Unknown significance,\N,synonymous_variant,9.465,0.0000186623,EXAC_NFE_AF,KARS
391365,16:75669991:T>A,NM_001130089.1:c.572A>T,NP_001123561.1:p.Tyr191Phe,6/15,\N,Unknown significance,\N,missense_variant,20.5,0.0000197808,EXAC_NFE_AF,KARS
391366,16:75670007:A>C,NM_001130089.1:c.567-11T>G,\N,\N,5/14,Unknown significance,\N,intron_variant,4.619,0.00014979,EXAC_AFR_AF,KARS
391367,16:75670013:T>C,NM_001130089.1:c.567-17A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,7.303,0.0000244451,EXAC_NFE_AF,KARS
391368,16:75670015:T>C,NM_001130089.1:c.567-19A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,7.19,0.0000252258,EXAC_NFE_AF,KARS
391369,16:75670020:C>T,NM_001130089.1:c.567-24G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,6.259,0.000174703,EXAC_AFR_AF,KARS
391370,16:75670023:T>C,NM_001130089.1:c.567-27A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,6.215,0.0000282263,EXAC_NFE_AF,KARS
391371,16:75670025:A>G,NM_001130089.1:c.567-29T>C,\N,\N,5/14,Benign,\N,intron_variant,6.902,0.0215533,EXAC_AFR_AF,KARS
391372,16:75670044:C>T,NM_001130089.1:c.567-48G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,3.743,0.00203252,EXAC_OTH_AF,KARS
391373,16:75670101:G>C,NM_001130089.1:c.567-105C>G,\N,\N,5/14,Unknown significance,\N,intron_variant,3.284,\N,\N,KARS
391374,16:75670128:C>A,NM_001130089.1:c.567-132G>T,\N,\N,5/14,Benign,\N,intron_variant,4.076,0.1024,1KG_EUR_AF,KARS
391375,16:75670130:ACTATTAAAAAAGGACTATC>A,NM_001130089.1:c.567-153_567-135del,\N,\N,5/14,Benign,\N,intron_variant,11.96,0.0143,1KG_SAS_AF,KARS
391376,16:75670132:T>C,NM_001130089.1:c.567-136A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,4.307,0.001,1KG_EUR_AF,KARS
391377,16:75670167:A>G,NM_001130089.1:c.567-171T>C,\N,\N,5/14,Benign,\N,intron_variant,9.138,0.0424,1KG_AFR_AF,KARS
391378,16:75670193:C>T,NM_001130089.1:c.566+159G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,2.76,\N,\N,KARS
391379,16:75670242:G>A,NM_001130089.1:c.566+110C>T,\N,\N,5/14,Unknown significance,\N,intron_variant,4.897,0.001,1KG_EAS_AF,KARS
391380,16:75670260:C>CT,NM_001130089.1:c.566+91dup,\N,\N,5/14,Unknown significance,\N,intron_variant,9.449,\N,\N,KARS
391381,16:75670274:C>T,NM_001130089.1:c.566+78G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,6.666,0.001,1KG_EAS_AF,KARS
391382,16:75670293:T>C,NM_001130089.1:c.566+59A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,6.639,\N,\N,KARS
391383,16:75670299:T>C,NM_001130089.1:c.566+53A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,5.37,0.0014,1KG_AMR_AF,KARS
391384,16:75670301:T>G,NM_001130089.1:c.566+51A>C,\N,\N,5/14,Unknown significance,\N,intron_variant,5.725,0.0000605694,EXAC_SAS_AF,KARS
391385,16:75670302:G>A,NM_001130089.1:c.566+50C>T,\N,\N,5/14,Unknown significance,\N,intron_variant,3.886,0.0000449708,EXAC_NFE_AF,KARS
391386,16:75670303:T>C,NM_001130089.1:c.566+49A>G,\N,\N,5/14,Unknown significance,\N,intron_variant,3.943,0.0000299814,EXAC_NFE_AF,KARS
391387,16:75670316:A>G,NM_001130089.1:c.566+36T>C,\N,\N,5/14,Unknown significance,\N,intron_variant,6.957,0.0000149894,EXAC_NFE_AF,KARS
391388,16:75670317:C>T,NM_001130089.1:c.566+35G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,3.823,0.0000149894,EXAC_NFE_AF,KARS
391389,16:75670318:C>T,NM_001130089.1:c.566+34G>A,\N,\N,5/14,Unknown significance,\N,intron_variant,6.851,0.0000605694,EXAC_SAS_AF,KARS
391390,16:75670325:G>T,NM_001130089.1:c.566+27C>A,\N,\N,5/14,Unknown significance,\N,intron_variant,0.654,0.0000149898,EXAC_NFE_AF,KARS
391391,16:75670330:A>G,NM_001130089.1:c.566+22T>C,\N,\N,5/14,Unknown significance,\N,intron_variant,4.575,0.0000299796,EXAC_NFE_AF,KARS
391392,16:75670338:G>T,NM_001130089.1:c.566+14C>A,\N,\N,5/14,Unknown significance,\N,intron_variant,3.458,\N,\N,KARS
391393,16:75670344:C>A,NM_001130089.1:c.566+8G>T,\N,\N,5/14,Unknown significance,\N,splice_region_variant&intron_variant,8.859,0.0000961354,EXAC_AFR_AF,KARS
391394,16:75670344:C>T,NM_001130089.1:c.566+8G>A,\N,\N,5/14,Unknown significance,\N,splice_region_variant&intron_variant,8.716,0.002,1KG_SAS_AF,KARS
391395,16:75670345:G>A,NM_001130089.1:c.566+7C>T,\N,\N,5/14,Unknown significance,\N,splice_region_variant&intron_variant,5.834,0.000231374,EXAC_EAS_AF,KARS
391396,16:75670345:G>C,NM_001130089.1:c.566+7C>G,\N,\N,5/14,Unknown significance,\N,splice_region_variant&intron_variant,3.981,0.001,1KG_SAS_AF,KARS
391397,16:75670355:G>C,NM_001130089.1:c.563C>G,NP_001123561.1:p.Ser188Cys,5/15,\N,Unknown significance,\N,missense_variant,26.4,0.000116279,EVS_EA_AF,KARS
391398,16:75670358:T>C,NM_001130089.1:c.560A>G,NP_001123561.1:p.Asn187Ser,5/15,\N,Unknown significance,\N,missense_variant,15.95,0.0000149885,EXAC_NFE_AF,KARS
391399,16:75670364:A>G,NM_001130089.1:c.554T>C,NP_001123561.1:p.Met185Thr,5/15,\N,Unknown significance,\N,missense_variant,26.3,0.00022748,EVS_AA_AF,KARS
391400,16:75670371:G>C,NM_001130089.1:c.547C>G,NP_001123561.1:p.Gln183Glu,5/15,\N,Unknown significance,\N,missense_variant,26.9,0.0000864304,EXAC_AMR_AF,KARS
391401,16:75670372:C>T,NM_001130089.1:c.546G>A,NP_001123561.1:p.Leu182=,5/15,\N,Unknown significance,\N,synonymous_variant,14.17,0.0000605694,EXAC_SAS_AF,KARS
391402,16:75670378:C>T,NM_001130089.1:c.540G>A,NP_001123561.1:p.Val180=,5/15,\N,Unknown significance,\N,synonymous_variant,12.57,0.0000605694,EXAC_SAS_AF,KARS
391403,16:75670380:C>A,NM_001130089.1:c.538G>T,NP_001123561.1:p.Val180Leu,5/15,\N,Unknown significance,\N,missense_variant,23.1,0.0000149939,EXAC_NFE_AF,KARS
391404,16:75670380:C>T,NM_001130089.1:c.538G>A,NP_001123561.1:p.Val180Met,5/15,\N,Unknown significance,\N,missense_variant,23.1,0.0000962279,EXAC_AFR_AF,KARS
391405,16:75670381:C>T,NM_001130089.1:c.537G>A,NP_001123561.1:p.Gly179=,5/15,\N,Unknown significance,\N,synonymous_variant,12.65,0.0000149948,EXAC_NFE_AF,KARS
391406,16:75670384:C>A,NM_001130089.1:c.534G>T,NP_001123561.1:p.Glu178Asp,5/15,\N,Unknown significance,\N,missense_variant,13.39,0.00015124,EXAC_FIN_AF,KARS
391407,16:75670384:C>G,NM_001130089.1:c.534G>C,NP_001123561.1:p.Glu178Asp,5/15,\N,Unknown significance,\N,missense_variant,12.23,0.000453721,EXAC_FIN_AF,KARS
391408,16:75670384:C>T,NM_001130089.1:c.534G>A,NP_001123561.1:p.Glu178=,5/15,\N,Unknown significance,\N,synonymous_variant,13.92,0.0000149957,EXAC_NFE_AF,KARS
391409,16:75670392:G>GAA,NM_001130089.1:c.524_525dup,NP_001123561.1:p.Arg176PhefsTer6,5/15,\N,Pathogenic,Peripheral neuropathy,frameshift_variant,35,\N,\N,KARS
391410,16:75670393:A>G,NM_001130089.1:c.525T>C,NP_001123561.1:p.Leu175=,5/15,\N,Unknown significance,\N,synonymous_variant,7.864,0.0000150002,EXAC_NFE_AF,KARS
391411,16:75670400:T>C,NM_005548.2:c.434A>G,NP_005539.1:p.Tyr145Cys,4/14,\N,Unknown significance,\N,missense_variant,28.2,0.00017316,EXAC_AMR_AF,KARS
391412,16:75670401:A>G,NM_001130089.1:c.517T>C,NP_001123561.1:p.Tyr173His,5/15,\N,Pathogenic,Hearing impairment| nonsyndromic| autosomal recessive,missense_variant,27.8,0.000181752,EXAC_SAS_AF,KARS
391413,16:75670402:G>GAA,NM_001130089.1:c.514_515dup,NP_001123561.1:p.Tyr173SerfsTer9,5/15,\N,Pathogenic,Charcot-Marie-Tooth disease| recessive intermediate B; CHARCOT-MARIE-TOOTH DISEASE| RECESSIVE INTERMEDIATE B (1 patient),frameshift_variant,\N,\N,\N,KARS
391414,16:75670408:G>A,NM_001130089.1:c.510C>T,NP_001123561.1:p.Leu170=,5/15,\N,Benign,\N,synonymous_variant,11.4,0.0089,1KG_EAS_AF,KARS
391415,16:75670413:T>G,NM_001130089.1:c.505A>C,NP_001123561.1:p.Lys169Gln,5/15,\N,Unknown significance,\N,missense_variant,28.3,0.0000605987,EXAC_SAS_AF,KARS
391416,16:75670417:C>A,NM_001130089.1:c.501G>T,NP_001123561.1:p.Gly167=,5/15,\N,Unknown significance,\N,synonymous_variant,19.45,0.000116279,EVS_EA_AF,KARS
391417,16:75670418:C>A,NM_001130089.1:c.500G>T,NP_001123561.1:p.Gly167Val,5/15,\N,Unknown significance,\N,missense_variant,34,0.000116387,EXAC_EAS_AF,KARS
391418,16:75670424:G>C,NM_001130089.1:c.494C>G,NP_001123561.1:p.Ala165Gly,5/15,\N,Unknown significance,\N,missense_variant,22.3,0.001,1KG_EUR_AF,KARS
391419,16:75670433:G>A,NM_001130089.1:c.485C>T,NP_001123561.1:p.Ala162Val,5/15,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,KARS
391420,16:75670441:C>A,NM_001130089.1:c.477G>T,NP_001123561.1:p.Arg159Ser,5/15,\N,Unknown significance,\N,missense_variant,27.2,0.0000868357,EXAC_AMR_AF,KARS
391421,16:75670448:A>AG,NM_001130089.1:c.473-4dup,\N,\N,4/14,Unknown significance,\N,splice_region_variant&intron_variant,12.26,0.000182061,EXAC_SAS_AF,KARS
391422,16:75670452:AAAG>A,NM_001130089.1:c.473-10_473-8del,\N,\N,4/14,Unknown significance,\N,splice_region_variant&intron_variant,11.47,0.0000607165,EXAC_SAS_AF,KARS
391423,16:75670458:G>A,NM_001130089.1:c.473-13C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,10.19,0.0000150898,EXAC_NFE_AF,KARS
391424,16:75670467:T>C,NM_001130089.1:c.473-22A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,11.34,0.0000607165,EXAC_SAS_AF,KARS
391425,16:75670469:C>G,NM_001130089.1:c.473-24G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,9.361,0.0000302243,EXAC_NFE_AF,KARS
391426,16:75670471:G>A,NM_001130089.1:c.473-26C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,10.63,0.0000607238,EXAC_SAS_AF,KARS
391427,16:75670474:T>C,NM_001130089.1:c.473-29A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,1.069,0.0000302444,EXAC_NFE_AF,KARS
391428,16:75670476:A>G,NM_001130089.1:c.473-31T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,3.622,0.0008,1KG_AFR_AF,KARS
391429,16:75670482:C>G,NM_001130089.1:c.473-37G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,9.157,0.00001514,EXAC_NFE_AF,KARS
391430,16:75670483:CAGA>C,NM_001130089.1:c.473-41_473-39del,\N,\N,4/14,Unknown significance,\N,intron_variant,11.11,0.0000151437,EXAC_NFE_AF,KARS
391431,16:75670486:AAGTCAT>A,NM_001130089.1:c.473-47_473-42del,\N,\N,4/14,Unknown significance,\N,intron_variant,5.643,0.0000607533,EXAC_SAS_AF,KARS
391432,16:75670490:C>A,NM_001130089.1:c.473-45G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,4.433,0.00022748,EVS_AA_AF,KARS
391433,16:75670497:T>C,NM_001130089.1:c.473-52A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.38,0.004,1KG_EAS_AF,KARS
391434,16:75670509:C>CA,NM_001130089.1:c.473-65dup,\N,\N,4/14,Unknown significance,\N,intron_variant,5.186,0.002,1KG_EAS_AF,KARS
391435,16:75670522:C>T,NM_001130089.1:c.473-77G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.013,0.001,1KG_SAS_AF,KARS
391436,16:75670529:A>AT,NM_001130089.1:c.473-85dup,\N,\N,4/14,Unknown significance,\N,intron_variant,0.265,\N,\N,KARS
391437,16:75670529:AT>A,NM_001130089.1:c.473-85del,\N,\N,4/14,Benign,\N,intron_variant,2.745,0.7044,1KG_EAS_AF,KARS
391438,16:75670540:T>G,NM_001130089.1:c.473-95A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,5.097,0.004,1KG_EAS_AF,KARS
391439,16:75670541:G>T,NM_001130089.1:c.473-96C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.671,\N,\N,KARS
391440,16:75670583:G>A,NM_001130089.1:c.473-138C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.214,0.001,1KG_EAS_AF,KARS
391441,16:75670594:C>T,NM_001130089.1:c.473-149G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.036,0.0029,1KG_AMR_AF,KARS
391442,16:75670595:G>A,NM_001130089.1:c.473-150C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.533,\N,\N,KARS
391443,16:75670608:T>C,NM_001130089.1:c.473-163A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.009,0.0008,1KG_AFR_AF,KARS
391444,16:75670613:C>T,NM_001130089.1:c.473-168G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,3.281,\N,\N,KARS
391445,16:75670614:C>T,NM_001130089.1:c.473-169G>A,\N,\N,4/14,Benign,\N,intron_variant,3.106,0.0159,1KG_AFR_AF,KARS
391446,16:75670617:C>T,NM_001130089.1:c.473-172G>A,\N,\N,4/14,Benign,\N,intron_variant,1.013,0.005,1KG_EUR_AF,KARS
391447,16:75670650:G>T,NM_001130089.1:c.473-205C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.539,0.0008,1KG_AFR_AF,KARS
391448,16:75670690:C>T,NM_001130089.1:c.473-245G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.389,0.0038,1KG_AFR_AF,KARS
391449,16:75670693:G>A,NM_001130089.1:c.473-248C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.962,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
391450,16:75670711:T>G,NM_001130089.1:c.473-266A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.587,0.0008,1KG_AFR_AF,KARS
391451,16:75670715:T>A,NM_001130089.1:c.473-270A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.794,\N,\N,KARS
391452,16:75670725:A>G,NM_001130089.1:c.473-280T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.469,\N,\N,KARS
391453,16:75670752:G>T,NM_001130089.1:c.473-307C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.476,\N,\N,KARS
391454,16:75670789:C>G,NM_001130089.1:c.473-344G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.564,0.0029,1KG_AMR_AF,KARS
391455,16:75670790:A>C,NM_001130089.1:c.473-345T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.414,0.0015,1KG_AFR_AF,KARS
391456,16:75670823:C>A,NM_001130089.1:c.473-378G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.86,0.001,1KG_SAS_AF,KARS
391457,16:75670829:C>T,NM_001130089.1:c.473-384G>A,\N,\N,4/14,Benign,\N,intron_variant,0.372,0.084,1KG_AFR_AF,KARS
391458,16:75670833:C>A,NM_001130089.1:c.473-388G>T,\N,\N,4/14,Benign,\N,intron_variant,0.086,0.007,1KG_EUR_AF,KARS
391459,16:75670837:C>T,NM_001130089.1:c.473-392G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.567,0.0008,1KG_AFR_AF,KARS
391460,16:75670857:T>TTTC,NM_001130089.1:c.473-413_473-412insGAA,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391461,16:75670857:TG>T,NM_001130089.1:c.473-413del,\N,\N,4/14,Benign,\N,intron_variant,0.23,0.747,1KG_EAS_AF,KARS
391462,16:75670858:G>T,NM_001130089.1:c.473-413C>A,\N,\N,4/14,Benign,\N,intron_variant,0.093,0.629,1KG_EAS_AF,KARS
391463,16:75670909:T>A,NM_001130089.1:c.473-464A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,6.194,0.001,1KG_EAS_AF,KARS
391464,16:75670953:TA>T,NM_001130089.1:c.473-509del,\N,\N,4/14,Unknown significance,\N,intron_variant,4.349,0.004,1KG_EAS_AF,KARS
391465,16:75670963:C>T,NM_001130089.1:c.473-518G>A,\N,\N,4/14,Benign,\N,intron_variant,4.984,0.084,1KG_AFR_AF,KARS
391466,16:75670970:G>C,NM_001130089.1:c.473-525C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.458,\N,\N,KARS
391467,16:75670974:T>C,NM_001130089.1:c.473-529A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,3.819,0.0015,1KG_AFR_AF,KARS
391468,16:75671015:G>C,NM_001130089.1:c.473-570C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.273,0.0014,1KG_AMR_AF,KARS
391469,16:75671059:T>C,NM_001130089.1:c.473-614A>G,\N,\N,4/14,Benign,\N,intron_variant,3.974,0.4032,1KG_AFR_AF,KARS
391470,16:75671087:G>A,NM_001130089.1:c.473-642C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.074,0.0041,1KG_SAS_AF,KARS
391471,16:75671091:C>T,NM_001130089.1:c.473-646G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.231,0.0014,1KG_AMR_AF,KARS
391472,16:75671107:A>G,NM_001130089.1:c.473-662T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,5.084,\N,\N,KARS
391473,16:75671114:A>G,NM_001130089.1:c.473-669T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,10.18,0.001,1KG_EAS_AF,KARS
391474,16:75671133:A>C,NM_001130089.1:c.473-688T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.048,0.0008,1KG_AFR_AF,KARS
391475,16:75671136:C>T,NM_001130089.1:c.473-691G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.1,0.0038,1KG_AFR_AF,KARS
391476,16:75671200:C>T,NM_001130089.1:c.473-755G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.674,0.0008,1KG_AFR_AF,KARS
391477,16:75671231:T>C,NM_001130089.1:c.473-786A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.788,0.001,1KG_EAS_AF,KARS
391478,16:75671242:TG>T,NM_001130089.1:c.473-798del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391479,16:75671260:C>T,NM_001130089.1:c.473-815G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.427,0.004,1KG_EAS_AF,KARS
391480,16:75671265:G>A,NM_001130089.1:c.473-820C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.599,\N,\N,KARS
391481,16:75671282:G>T,NM_001130089.1:c.473-837C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.322,\N,\N,KARS
391482,16:75671312:C>T,NM_001130089.1:c.473-867G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.43,0.001,1KG_SAS_AF,KARS
391483,16:75671314:G>C,NM_001130089.1:c.473-869C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.988,0.0008,1KG_AFR_AF,KARS
391484,16:75671349:C>T,NM_001130089.1:c.473-904G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,6.121,0.001,1KG_EAS_AF,KARS
391485,16:75671369:T>A,NM_001130089.1:c.473-924A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.216,\N,\N,KARS
391486,16:75671374:T>C,NM_001130089.1:c.473-929A>G,\N,\N,4/14,Benign,\N,intron_variant,2.096,0.0424,1KG_AFR_AF,KARS
391487,16:75671374:TT>CG,NM_001130089.1:c.473-930_473-929delinsCG,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391488,16:75671375:T>G,NM_001130089.1:c.473-930A>C,\N,\N,4/14,Benign,\N,intron_variant,4.794,0.4024,1KG_AFR_AF,KARS
391489,16:75671410:A>C,NM_001130089.1:c.473-965T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.486,0.0008,1KG_AFR_AF,KARS
391490,16:75671411:C>T,NM_001130089.1:c.473-966G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.705,\N,\N,KARS
391491,16:75671437:G>A,NM_001130089.1:c.473-992C>T,\N,\N,4/14,Benign,\N,intron_variant,3.136,0.006,1KG_EUR_AF,KARS
391492,16:75671444:C>T,NM_001130089.1:c.473-999G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.038,0.002,1KG_EUR_AF,KARS
391493,16:75671456:G>A,NM_001130089.1:c.473-1011C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.083,0.001,1KG_EAS_AF,KARS
391494,16:75671461:G>T,NM_001130089.1:c.473-1016C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.293,\N,\N,KARS
391495,16:75671520:A>T,NM_001130089.1:c.473-1075T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.239,\N,\N,KARS
391496,16:75671537:C>T,NM_001130089.1:c.473-1092G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.953,0.001,1KG_EUR_AF,KARS
391497,16:75671538:G>A,NM_001130089.1:c.473-1093C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.137,0.0014,1KG_AMR_AF,KARS
391498,16:75671568:T>G,NM_001130089.1:c.473-1123A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.64,\N,\N,KARS
391499,16:75671576:C>T,NM_001130089.1:c.473-1131G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.842,0.002,1KG_SAS_AF,KARS
391500,16:75671592:G>C,NM_001130089.1:c.473-1147C>G,\N,\N,4/14,Benign,\N,intron_variant,0.249,0.006,1KG_EUR_AF,KARS
391501,16:75671608:C>A,NM_001130089.1:c.473-1163G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.603,0.0008,1KG_AFR_AF,KARS
391502,16:75671631:C>CA,NM_001130089.1:c.473-1187dup,\N,\N,4/14,Unknown significance,\N,intron_variant,0.426,0.0023,1KG_AFR_AF,KARS
391503,16:75671633:C>T,NM_001130089.1:c.473-1188G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.152,0.002,1KG_EAS_AF,KARS
391504,16:75671667:A>T,NM_001130089.1:c.473-1222T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.274,0.0014,1KG_AMR_AF,KARS
391505,16:75671676:TCA>T,NM_001130089.1:c.473-1233_473-1232del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391506,16:75671676:TCAA>T,NM_001130089.1:c.473-1234_473-1232del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391507,16:75671677:CAA>C,NM_001130089.1:c.473-1234_473-1233del,\N,\N,4/14,Benign,\N,intron_variant,5.533,0.7093,1KG_EAS_AF,KARS
391508,16:75671708:G>A,NM_001130089.1:c.473-1263C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.215,0.001,1KG_SAS_AF,KARS
391509,16:75671730:C>T,NM_001130089.1:c.473-1285G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.059,0.001,1KG_EAS_AF,KARS
391510,16:75671742:C>G,NM_001130089.1:c.473-1297G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,2.356,\N,\N,KARS
391511,16:75671753:C>T,NM_001130089.1:c.473-1308G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.358,0.0023,1KG_AFR_AF,KARS
391512,16:75671765:C>A,NM_001130089.1:c.473-1320G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.52,0.001,1KG_SAS_AF,KARS
391513,16:75671780:G>C,NM_001130089.1:c.473-1335C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.368,0.0008,1KG_AFR_AF,KARS
391514,16:75671787:A>G,NM_001130089.1:c.473-1342T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.103,0.001,1KG_EAS_AF,KARS
391515,16:75671798:C>A,NM_001130089.1:c.473-1353G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.922,\N,\N,KARS
391516,16:75671798:C>CA,NM_001130089.1:c.473-1354dup,\N,\N,4/14,Unknown significance,\N,intron_variant,3.464,\N,\N,KARS
391517,16:75671798:CA>C,NM_001130089.1:c.473-1354del,\N,\N,4/14,Benign,\N,intron_variant,4.543,0.6756,1KG_EAS_AF,KARS
391518,16:75671798:CAAAAAAAAA>C,NM_001130089.1:c.473-1362_473-1354del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391519,16:75671833:G>A,NM_001130089.1:c.473-1388C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.594,0.003,1KG_EAS_AF,KARS
391520,16:75671850:C>A,NM_001130089.1:c.473-1405G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,4.183,\N,\N,KARS
391521,16:75671915:C>T,NM_001130089.1:c.473-1470G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.758,\N,\N,KARS
391522,16:75671930:C>A,NM_001130089.1:c.473-1485G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.904,\N,\N,KARS
391523,16:75671931:G>A,NM_001130089.1:c.473-1486C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.39,0.0015,1KG_AFR_AF,KARS
391524,16:75671951:G>A,NM_001130089.1:c.473-1506C>T,\N,\N,4/14,Benign,\N,intron_variant,1.678,0.0174,1KG_AFR_AF,KARS
391525,16:75671957:C>T,NM_001130089.1:c.473-1512G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,3.157,0.0045,1KG_AFR_AF,KARS
391526,16:75672017:C>T,NM_001130089.1:c.473-1572G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.315,\N,\N,KARS
391527,16:75672058:C>T,NM_001130089.1:c.473-1613G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.99,\N,\N,KARS
391528,16:75672070:A>C,NM_001130089.1:c.473-1625T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.484,0.0014,1KG_AMR_AF,KARS
391529,16:75672092:A>T,NM_001130089.1:c.473-1647T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.176,\N,\N,KARS
391530,16:75672115:C>CT,NM_001130089.1:c.473-1671dup,\N,\N,4/14,Benign,\N,intron_variant,1.716,0.1978,1KG_EUR_AF,KARS
391531,16:75672115:CT>C,NM_001130089.1:c.473-1671del,\N,\N,4/14,Benign,\N,intron_variant,1.761,0.7014,1KG_EAS_AF,KARS
391532,16:75672116:T>C,NM_001130089.1:c.473-1671A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.443,\N,\N,KARS
391533,16:75672119:T>C,NM_001130089.1:c.473-1674A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.248,0.0031,1KG_SAS_AF,KARS
391534,16:75672128:T>A,NM_001130089.1:c.473-1683A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.86,\N,\N,KARS
391535,16:75672129:A>T,NM_001130089.1:c.473-1684T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.268,\N,\N,KARS
391536,16:75672157:G>A,NM_001130089.1:c.473-1712C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.596,\N,\N,KARS
391537,16:75672163:C>T,NM_001130089.1:c.473-1718G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,5.732,\N,\N,KARS
391538,16:75672183:G>C,NM_001130089.1:c.473-1738C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,3.995,0.0029,1KG_AMR_AF,KARS
391539,16:75672198:G>T,NM_001130089.1:c.473-1753C>A,\N,\N,4/14,Benign,\N,intron_variant,8.473,0.0734,1KG_AFR_AF,KARS
391540,16:75672221:C>T,NM_001130089.1:c.473-1776G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,10.23,\N,\N,KARS
391541,16:75672250:A>G,NM_001130089.1:c.473-1805T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,6.205,\N,\N,KARS
391542,16:75672282:G>A,NM_001130089.1:c.472+1800C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.093,0.001,1KG_SAS_AF,KARS
391543,16:75672282:G>C,NM_001130089.1:c.472+1800C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.017,\N,\N,KARS
391544,16:75672290:C>T,NM_001130089.1:c.472+1792G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.622,\N,\N,KARS
391545,16:75672292:C>T,NM_001130089.1:c.472+1790G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,4.059,0.0014,1KG_AMR_AF,KARS
391546,16:75672304:C>A,NM_001130089.1:c.472+1778G>T,\N,\N,4/14,Unknown significance,\N,intron_variant,7.196,\N,\N,KARS
391547,16:75672327:C>T,NM_001130089.1:c.472+1755G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,9.071,0.001,1KG_EUR_AF,KARS
391548,16:75672328:C>T,NM_001130089.1:c.472+1754G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,8.672,\N,\N,KARS
391549,16:75672414:A>C,NM_001130089.1:c.472+1668T>G,\N,\N,4/14,Benign,\N,intron_variant,0.111,0.7014,1KG_EAS_AF,KARS
391550,16:75672443:C>T,NM_001130089.1:c.472+1639G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.25,0.001,1KG_EAS_AF,KARS
391551,16:75672444:G>A,NM_001130089.1:c.472+1638C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.279,\N,\N,KARS
391552,16:75672467:T>C,NM_001130089.1:c.472+1615A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.325,0.001,1KG_EAS_AF,KARS
391553,16:75672473:T>C,NM_001130089.1:c.472+1609A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,3.162,\N,\N,KARS
391554,16:75672482:T>C,NM_001130089.1:c.472+1600A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,5.863,0.001,1KG_SAS_AF,KARS
391555,16:75672490:G>A,NM_001130089.1:c.472+1592C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.422,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
391556,16:75672522:A>T,NM_001130089.1:c.472+1560T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.241,0.001,1KG_EAS_AF,KARS
391557,16:75672551:A>G,NM_001130089.1:c.472+1531T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.949,\N,\N,KARS
391558,16:75672607:G>T,NM_001130089.1:c.472+1475C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.438,\N,\N,KARS
391559,16:75672611:G>A,NM_001130089.1:c.472+1471C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.452,\N,\N,KARS
391560,16:75672622:G>A,NM_001130089.1:c.472+1460C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.889,\N,\N,KARS
391561,16:75672624:T>C,NM_001130089.1:c.472+1458A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.526,0.001,1KG_SAS_AF,KARS
391562,16:75672649:G>A,NM_001130089.1:c.472+1433C>T,\N,\N,4/14,Benign,\N,intron_variant,2.451,0.0174,1KG_AFR_AF,KARS
391563,16:75672661:G>A,NM_001130089.1:c.472+1421C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.396,\N,\N,KARS
391564,16:75672686:C>T,NM_001130089.1:c.472+1396G>A,\N,\N,4/14,Benign,\N,intron_variant,1.828,0.7014,1KG_EAS_AF,KARS
391565,16:75672691:A>C,NM_001130089.1:c.472+1391T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.215,0.001,1KG_EUR_AF,KARS
391566,16:75672696:C>G,NM_001130089.1:c.472+1386G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.706,\N,\N,KARS
391567,16:75672701:T>C,NM_001130089.1:c.472+1381A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.914,0.0008,1KG_AFR_AF,KARS
391568,16:75672709:T>G,NM_001130089.1:c.472+1373A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.241,0.001,1KG_EUR_AF,KARS
391569,16:75672723:T>C,NM_001130089.1:c.472+1359A>G,\N,\N,4/14,Benign,\N,intron_variant,3.035,0.0184,1KG_SAS_AF,KARS
391570,16:75672741:G>T,NM_001130089.1:c.472+1341C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.291,\N,\N,KARS
391571,16:75672789:G>A,NM_001130089.1:c.472+1293C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.661,\N,\N,KARS
391572,16:75672811:A>T,NM_001130089.1:c.472+1271T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.485,0.001,1KG_EAS_AF,KARS
391573,16:75672814:C>G,NM_001130089.1:c.472+1268G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,2.033,0.001,1KG_SAS_AF,KARS
391574,16:75672822:T>C,NM_001130089.1:c.472+1260A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.73,\N,\N,KARS
391575,16:75672831:C>T,NM_001130089.1:c.472+1251G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.866,0.001,1KG_EUR_AF,KARS
391576,16:75672832:G>A,NM_001130089.1:c.472+1250C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,0.325,\N,\N,KARS
391577,16:75672856:A>G,NM_001130089.1:c.472+1226T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.75,0.0015,1KG_AFR_AF,KARS
391578,16:75672858:G>C,NM_001130089.1:c.472+1224C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.504,0.0029,1KG_AMR_AF,KARS
391579,16:75672864:A>G,NM_001130089.1:c.472+1218T>C,\N,\N,4/14,Benign,\N,intron_variant,2.642,0.8631,1KG_EAS_AF,KARS
391580,16:75672884:G>T,NM_001130089.1:c.472+1198C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.408,\N,\N,KARS
391581,16:75672885:G>A,NM_001130089.1:c.472+1197C>T,\N,\N,4/14,Benign,\N,intron_variant,1.263,0.2087,1KG_EUR_AF,KARS
391582,16:75672895:G>A,NM_001130089.1:c.472+1187C>T,\N,\N,4/14,Benign,\N,intron_variant,1.567,0.053,1KG_AFR_AF,KARS
391583,16:75672897:C>T,NM_001130089.1:c.472+1185G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.904,\N,\N,KARS
391584,16:75672909:T>C,NM_001130089.1:c.472+1173A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.126,\N,\N,KARS
391585,16:75672928:T>C,NM_001130089.1:c.472+1154A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.225,\N,\N,KARS
391586,16:75672966:T>C,NM_001130089.1:c.472+1116A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,1.019,0.002,1KG_EUR_AF,KARS
391587,16:75672972:A>G,NM_001130089.1:c.472+1110T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.362,\N,\N,KARS
391588,16:75672985:G>A,NM_001130089.1:c.472+1097C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.204,0.001,1KG_SAS_AF,KARS
391589,16:75673003:T>C,NM_001130089.1:c.472+1079A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.603,\N,\N,KARS
391590,16:75673019:T>A,NM_001130089.1:c.472+1063A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,4.61,\N,\N,KARS
391591,16:75673022:C>T,NM_001130089.1:c.472+1060G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.059,\N,\N,KARS
391592,16:75673042:G>C,NM_001130089.1:c.472+1040C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.61,0.0014,1KG_AMR_AF,KARS
391593,16:75673045:G>C,NM_001130089.1:c.472+1037C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.328,0.0015,1KG_AFR_AF,KARS
391594,16:75673061:C>G,NM_001130089.1:c.472+1021G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.399,0.001,1KG_EAS_AF,KARS
391595,16:75673066:C>CA,NM_001130089.1:c.472+1015dup,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391596,16:75673087:A>T,NM_001130089.1:c.472+995T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.101,\N,\N,KARS
391597,16:75673088:T>A,NM_001130089.1:c.472+994A>T,\N,\N,4/14,Unknown significance,\N,intron_variant,5.93,\N,\N,KARS
391598,16:75673185:A>T,NM_001130089.1:c.472+897T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.626,\N,\N,KARS
391599,16:75673195:T>G,NM_001130089.1:c.472+887A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,1.664,\N,\N,KARS
391600,16:75673231:AAGCCGAGGC>A,NM_001130089.1:c.472+842_472+850del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391601,16:75673249:C>T,NM_001130089.1:c.472+833G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,2.932,0.004,1KG_EAS_AF,KARS
391602,16:75673291:G>A,NM_001130089.1:c.472+791C>T,\N,\N,4/14,Benign,\N,intron_variant,0.765,0.0058,1KG_AMR_AF,KARS
391603,16:75673292:A>AT,NM_001130089.1:c.472+789_472+790insA,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391604,16:75673300:T>C,NM_001130089.1:c.472+782A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,1.72,0.0008,1KG_AFR_AF,KARS
391605,16:75673327:G>T,NM_001130089.1:c.472+755C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.026,0.003,1KG_EAS_AF,KARS
391606,16:75673328:G>A,NM_001130089.1:c.472+754C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.081,0.003,1KG_EAS_AF,KARS
391607,16:75673330:C>T,NM_001130089.1:c.472+752G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.072,0.001,1KG_EUR_AF,KARS
391608,16:75673331:G>C,NM_001130089.1:c.472+751C>G,\N,\N,4/14,Benign,\N,intron_variant,0.119,0.0644,1KG_SAS_AF,KARS
391609,16:75673333:G>A,NM_001130089.1:c.472+749C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,3.43,\N,\N,KARS
391610,16:75673383:T>C,NM_001130089.1:c.472+699A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,1.867,0.001,1KG_EAS_AF,KARS
391611,16:75673397:G>T,NM_001130089.1:c.472+685C>A,\N,\N,4/14,Benign,\N,intron_variant,0.561,0.0082,1KG_SAS_AF,KARS
391612,16:75673416:G>A,NM_001130089.1:c.472+666C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.739,\N,\N,KARS
391613,16:75673416:G>C,NM_001130089.1:c.472+666C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.404,\N,\N,KARS
391614,16:75673442:C>T,NM_001130089.1:c.472+640G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.288,0.0008,1KG_AFR_AF,KARS
391615,16:75673464:T>C,NM_001130089.1:c.472+618A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.061,\N,\N,KARS
391616,16:75673469:C>CA,NM_001130089.1:c.472+612dup,\N,\N,4/14,Unknown significance,\N,intron_variant,4.217,\N,\N,KARS
391617,16:75673489:A>T,NM_001130089.1:c.472+593T>A,\N,\N,4/14,Benign,\N,intron_variant,0.718,0.0318,1KG_AFR_AF,KARS
391618,16:75673491:G>A,NM_001130089.1:c.472+591C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,1.58,\N,\N,KARS
391619,16:75673512:C>T,NM_001130089.1:c.472+570G>A,\N,\N,4/14,Benign,\N,intron_variant,1.892,0.0802,1KG_AFR_AF,KARS
391620,16:75673516:A>G,NM_001130089.1:c.472+566T>C,\N,\N,4/14,Benign,\N,intron_variant,1.452,0.0051,1KG_SAS_AF,KARS
391621,16:75673546:T>C,NM_001130089.1:c.472+536A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,4.598,\N,\N,KARS
391622,16:75673571:G>A,NM_001130089.1:c.472+511C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,6.38,0.0014,1KG_AMR_AF,KARS
391623,16:75673574:T>C,NM_001130089.1:c.472+508A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,3.952,\N,\N,KARS
391624,16:75673578:G>A,NM_001130089.1:c.472+504C>T,\N,\N,4/14,Benign,\N,intron_variant,1.353,0.0136,1KG_AFR_AF,KARS
391625,16:75673600:G>T,NM_001130089.1:c.472+482C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.67,\N,\N,KARS
391626,16:75673631:A>G,NM_001130089.1:c.472+451T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,11.9,\N,\N,KARS
391627,16:75673636:T>C,NM_001130089.1:c.472+446A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,5.106,\N,\N,KARS
391628,16:75673677:A>AT,NM_001130089.1:c.472+404dup,\N,\N,4/14,Unknown significance,\N,intron_variant,0.615,\N,\N,KARS
391629,16:75673685:T>C,NM_001130089.1:c.472+397A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.045,\N,\N,KARS
391630,16:75673685:T>G,NM_001130089.1:c.472+397A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.061,0.0029,1KG_AMR_AF,KARS
391631,16:75673686:T>G,NM_001130089.1:c.472+396A>C,\N,\N,4/14,Unknown significance,\N,intron_variant,0.716,0.002,1KG_EUR_AF,KARS
391632,16:75673687:TTTG>T,NM_001130089.1:c.472+392_472+394del,\N,\N,4/14,Unknown significance,\N,intron_variant,2.645,\N,\N,KARS
391633,16:75673688:TTG>T,NM_001130089.1:c.472+392_472+393del,\N,\N,4/14,Benign,\N,intron_variant,2.97,0.7014,1KG_EAS_AF,KARS
391634,16:75673689:TG>T,NM_001130089.1:c.472+392del,\N,\N,4/14,Unknown significance,\N,intron_variant,0.087,\N,\N,KARS
391635,16:75673690:G>T,NM_001130089.1:c.472+392C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,0.02,\N,\N,KARS
391636,16:75673730:T>C,NM_001130089.1:c.472+352A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,4.103,0.001,1KG_EUR_AF,KARS
391637,16:75673762:CTG>C,NM_001130089.1:c.472+318_472+319del,\N,\N,4/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391638,16:75673798:G>A,NM_001130089.1:c.472+284C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,7.935,0.001,1KG_EAS_AF,KARS
391639,16:75673807:G>A,NM_001130089.1:c.472+275C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,9.954,\N,\N,KARS
391640,16:75673809:A>G,NM_001130089.1:c.472+273T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,11.58,\N,\N,KARS
391641,16:75673814:G>A,NM_001130089.1:c.472+268C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,8.761,\N,\N,KARS
391642,16:75673825:C>T,NM_001130089.1:c.472+257G>A,\N,\N,4/14,Benign,\N,intron_variant,0.143,0.0238,1KG_EAS_AF,KARS
391643,16:75673844:A>C,NM_001130089.1:c.472+238T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,1.895,\N,\N,KARS
391644,16:75673845:G>A,NM_001130089.1:c.472+237C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,4.443,0.001,1KG_SAS_AF,KARS
391645,16:75673846:G>A,NM_001130089.1:c.472+236C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,4.445,\N,\N,KARS
391646,16:75673864:G>C,NM_001130089.1:c.472+218C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.66,\N,\N,KARS
391647,16:75673865:C>G,NM_001130089.1:c.472+217G>C,\N,\N,4/14,Unknown significance,\N,intron_variant,4.508,0.0008,1KG_AFR_AF,KARS
391648,16:75673879:G>T,NM_001130089.1:c.472+203C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,1.388,\N,\N,KARS
391649,16:75673883:T>C,NM_001130089.1:c.472+199A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,4.264,\N,\N,KARS
391650,16:75673897:T>C,NM_001130089.1:c.472+185A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,5.882,0.002,1KG_EAS_AF,KARS
391651,16:75673899:T>C,NM_001130089.1:c.472+183A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,0.946,\N,\N,KARS
391652,16:75673917:C>T,NM_001130089.1:c.472+165G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,6.84,0.001,1KG_EAS_AF|1KG_EUR_AF,KARS
391653,16:75673924:G>A,NM_001130089.1:c.472+158C>T,\N,\N,4/14,Benign,\N,intron_variant,1.039,0.0079,1KG_EAS_AF,KARS
391654,16:75673946:T>C,NM_001130089.1:c.472+136A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.079,0.001,1KG_EUR_AF,KARS
391655,16:75673952:T>A,NM_001130089.1:c.472+130A>T,\N,\N,4/14,Benign,\N,intron_variant,7.462,0.0358,1KG_EUR_AF,KARS
391656,16:75673953:G>A,NM_001130089.1:c.472+129C>T,\N,\N,4/14,Benign,\N,intron_variant,4.538,0.0794,1KG_AFR_AF,KARS
391657,16:75673954:T>C,NM_001130089.1:c.472+128A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,4.139,0.0008,1KG_AFR_AF,KARS
391658,16:75673990:G>A,NM_001130089.1:c.472+92C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,6.76,0.001,1KG_EAS_AF,KARS
391659,16:75673991:A>T,NM_001130089.1:c.472+91T>A,\N,\N,4/14,Unknown significance,\N,intron_variant,5.628,\N,\N,KARS
391660,16:75674008:C>T,NM_001130089.1:c.472+74G>A,\N,\N,4/14,Benign,\N,intron_variant,10.53,0.0794,1KG_AFR_AF,KARS
391661,16:75674024:T>A,NM_001130089.1:c.472+58A>T,\N,\N,4/14,Benign,\N,intron_variant,6.921,0.0174,1KG_AFR_AF,KARS
391662,16:75674031:G>A,NM_001130089.1:c.472+51C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,2.197,0.000259426,EXAC_AMR_AF,KARS
391663,16:75674034:G>C,NM_001130089.1:c.472+48C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.262,0.003,1KG_EAS_AF,KARS
391664,16:75674038:T>G,NM_001130089.1:c.472+44A>C,\N,\N,4/14,Benign,\N,intron_variant,4.988,0.0173,1KG_AMR_AF,KARS
391665,16:75674044:C>T,NM_001130089.1:c.472+38G>A,\N,\N,4/14,Unknown significance,\N,intron_variant,3.393,0.0000299742,EXAC_NFE_AF,KARS
391666,16:75674052:G>C,NM_001130089.1:c.472+30C>G,\N,\N,4/14,Unknown significance,\N,intron_variant,4.96,0.000115554,EXAC_EAS_AF,KARS
391667,16:75674059:G>A,NM_001130089.1:c.472+23C>T,\N,\N,4/14,Unknown significance,\N,intron_variant,6.077,0.0000149853,EXAC_NFE_AF,KARS
391668,16:75674060:A>G,NM_001130089.1:c.472+22T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,7.294,0.000060562,EXAC_SAS_AF,KARS
391669,16:75674062:T>C,NM_001130089.1:c.472+20A>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.525,0.000172801,EXAC_AMR_AF,KARS
391670,16:75674063:T>A,NM_001130089.1:c.472+19A>T,\N,\N,4/14,Benign,\N,intron_variant,7.029,0.0069,1KG_EAS_AF,KARS
391671,16:75674069:G>T,NM_001130089.1:c.472+13C>A,\N,\N,4/14,Unknown significance,\N,intron_variant,7.739,\N,\N,KARS
391672,16:75674073:A>C,NM_001130089.1:c.472+9T>G,\N,\N,4/14,Unknown significance,\N,intron_variant,2.815,0.000029967,EXAC_NFE_AF,KARS
391673,16:75674073:A>G,NM_001130089.1:c.472+9T>C,\N,\N,4/14,Unknown significance,\N,intron_variant,4.762,0.0000149835,EXAC_NFE_AF,KARS
391674,16:75674076:T>G,NM_001130089.1:c.472+6A>C,\N,\N,4/14,Unknown significance,\N,splice_region_variant&intron_variant,8.593,0.0000960984,EXAC_AFR_AF,KARS
391675,16:75674078:C>T,NM_001130089.1:c.472+4G>A,\N,\N,4/14,Unknown significance,\N,splice_region_variant&intron_variant,11.41,0.000060562,EXAC_SAS_AF,KARS
391676,16:75674085:C>T,NM_005548.2:c.385G>A,NP_005539.1:p.Ala129Thr,3/14,\N,Unknown significance,\N,missense_variant,26.2,0.0000149835,EXAC_NFE_AF,KARS
391677,16:75674088:C>T,NM_001130089.1:c.466G>A,NP_001123561.1:p.Val156Met,4/15,\N,Unknown significance,\N,missense_variant,27.3,0.00110132,EXAC_OTH_AF,KARS
391678,16:75674098:G>A,NM_001130089.1:c.456C>T,NP_001123561.1:p.Ile152=,4/15,\N,Unknown significance,\N,synonymous_variant,11.86,0.0000149835,EXAC_NFE_AF,KARS
391679,16:75674100:T>C,NM_001130089.1:c.454A>G,NP_001123561.1:p.Ile152Val,4/15,\N,Likely benign,\N,missense_variant,11.26,0.0000149835,EXAC_NFE_AF,KARS
391680,16:75674101:G>A,NM_001130089.1:c.453C>T,NP_001123561.1:p.Asp151=,4/15,\N,Unknown significance,\N,synonymous_variant,9.883,0.000172741,EXAC_AMR_AF,KARS
391681,16:75674105:G>C,NM_001130089.1:c.449C>G,NP_001123561.1:p.Thr150Ser,4/15,\N,Likely benign,\N,missense_variant,12.73,0.000116279,EVS_EA_AF,KARS
391682,16:75674107:C>A,NM_001130089.1:c.447G>T,NP_001123561.1:p.Leu149=,4/15,\N,Unknown significance,\N,synonymous_variant,13.99,0.000121124,EXAC_SAS_AF,KARS
391683,16:75674107:C>T,NM_001130089.1:c.447G>A,NP_001123561.1:p.Leu149=,4/15,\N,Unknown significance,\N,synonymous_variant,12.99,0.000104888,EXAC_NFE_AF,KARS
391684,16:75674110:G>A,NM_001130089.1:c.444C>T,NP_001123561.1:p.His148=,4/15,\N,Unknown significance,\N,synonymous_variant,9.492,0.000232558,EVS_EA_AF,KARS
391685,16:75674113:A>G,NM_001130089.1:c.441T>C,NP_001123561.1:p.Asp147=,4/15,\N,Unknown significance,\N,synonymous_variant,3.769,0.0000149835,EXAC_NFE_AF,KARS
391686,16:75674115:C>A,NM_001130089.1:c.439G>T,NP_001123561.1:p.Asp147Tyr,4/15,\N,Unknown significance,\N,missense_variant,25.6,0.0000149835,EXAC_NFE_AF,KARS
391687,16:75674115:C>T,NM_001130089.1:c.439G>A,NP_001123561.1:p.Asp147Asn,4/15,\N,Unknown significance,\N,missense_variant,25.3,0.00181433,EXAC_FIN_AF,KARS
391688,16:75674122:C>G,NM_001130089.1:c.432G>C,NP_001123561.1:p.Gln144His,4/15,\N,Unknown significance,\N,missense_variant,23.5,0.000172741,EXAC_AMR_AF,KARS
391689,16:75674130:G>A,NM_001130089.1:c.424C>T,NP_001123561.1:p.His142Tyr,4/15,\N,Likely benign,\N,missense_variant,6.661,0.000116279,EVS_EA_AF,KARS
391690,16:75674132:C>G,NM_001130089.1:c.422G>C,NP_001123561.1:p.Ser141Thr,4/15,\N,Unknown significance,\N,missense_variant,6.888,0.00110132,EXAC_OTH_AF,KARS
391691,16:75674134:A>G,NM_001130089.1:c.420T>C,NP_001123561.1:p.Tyr140=,4/15,\N,Unknown significance,\N,synonymous_variant,0.143,0.000115554,EXAC_EAS_AF,KARS
391692,16:75674135:T>C,NM_001130089.1:c.419A>G,NP_001123561.1:p.Tyr140Cys,4/15,\N,Unknown significance,\N,missense_variant,24.2,0.000172741,EXAC_AMR_AF,KARS
391693,16:75674138:T>A,NM_001130089.1:c.416A>T,NP_001123561.1:p.Lys139Ile,4/15,\N,Unknown significance,\N,missense_variant,23.1,0.000116279,EVS_EA_AF,KARS
391694,16:75674139:T>G,NM_001130089.1:c.415A>C,NP_001123561.1:p.Lys139Gln,4/15,\N,Likely benign,\N,missense_variant,0.379,0.0000149835,EXAC_NFE_AF,KARS
391695,16:75674140:T>C,NM_001130089.1:c.414A>G,NP_001123561.1:p.Gln138=,4/15,\N,Unknown significance,\N,synonymous_variant,0.003,0.00155467,EXAC_AMR_AF,KARS
391696,16:75674146:G>A,NM_001130089.1:c.408C>T,NP_001123561.1:p.Phe136=,4/15,\N,Unknown significance,\N,synonymous_variant,11.9,\N,\N,KARS
391697,16:75674153:G>C,NM_001130089.1:c.401C>G,NP_001123561.1:p.Thr134Ser,4/15,\N,Unknown significance,\N,missense_variant,18.61,0.00022748,EVS_AA_AF,KARS
391698,16:75674156:A>T,NM_001130089.1:c.398T>A,NP_001123561.1:p.Leu133His,4/15,\N,Pathogenic,Peripheral neuropathy,missense_variant,28.3,0.0000149835,EXAC_NFE_AF,KARS
391699,16:75674158:T>C,NM_001130089.1:c.396A>G,NP_001123561.1:p.Ser132=,4/15,\N,Unknown significance,\N,synonymous_variant,7.287,0.0000149835,EXAC_NFE_AF,KARS
391700,16:75674161:G>C,NM_001130089.1:c.393C>G,NP_001123561.1:p.Ile131Met,4/15,\N,Likely benign,\N,missense_variant,14.55,0.00257031,EXAC_FIN_AF,KARS
391701,16:75674172:G>A,NM_001130089.1:c.382C>T,NP_001123561.1:p.His128Tyr,4/15,\N,Unknown significance,\N,missense_variant,23.6,0.000231107,EXAC_EAS_AF,KARS
391702,16:75674176:C>T,NM_001130089.1:c.378G>A,NP_001123561.1:p.Lys126=,4/15,\N,Unknown significance,\N,synonymous_variant,16.13,0.000060562,EXAC_SAS_AF,KARS
391703,16:75674181:G>C,NM_005548.2:c.289C>G,NP_005539.1:p.His97Asp,3/14,\N,Unknown significance,\N,missense_variant,27.7,0.00110132,EXAC_OTH_AF,KARS
391704,16:75674185:G>A,NM_001130089.1:c.369C>T,NP_001123561.1:p.Tyr123=,4/15,\N,Unknown significance,\N,synonymous_variant,4.928,0.000060562,EXAC_SAS_AF,KARS
391705,16:75674190:G>T,NM_005548.2:c.280C>A,NP_005539.1:p.Pro94Thr,3/14,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,KARS
391706,16:75674196:C>G,NM_001130089.1:c.358G>C,NP_001123561.1:p.Glu120Gln,4/15,\N,Unknown significance,\N,missense_variant,11.39,0.0014,1KG_AMR_AF,KARS
391707,16:75674196:C>T,NM_001130089.1:c.358G>A,NP_001123561.1:p.Glu120Lys,4/15,\N,Unknown significance,\N,missense_variant,14.62,0.0000149835,EXAC_NFE_AF,KARS
391708,16:75674201:T>C,NM_001130089.1:c.353A>G,NP_001123561.1:p.Asn118Ser,4/15,\N,Likely benign,\N,missense_variant,0.001,0.000232558,EVS_EA_AF,KARS
391709,16:75674202:T>C,NM_001130089.1:c.352A>G,NP_001123561.1:p.Asn118Asp,4/15,\N,Likely benign,\N,missense_variant,4.551,0.000116279,EVS_EA_AF,KARS
391710,16:75674202:T>G,NM_001130089.1:c.352A>C,NP_001123561.1:p.Asn118His,4/15,\N,Likely benign,\N,missense_variant,8.493,0.0000149835,EXAC_NFE_AF,KARS
391711,16:75674205:C>G,NM_001130089.1:c.349G>C,NP_001123561.1:p.Val117Leu,4/15,\N,Likely benign,\N,missense_variant,5.913,0.0000149835,EXAC_NFE_AF,KARS
391712,16:75674220:T>C,NM_001130089.1:c.334A>G,NP_001123561.1:p.Ile112Val,4/15,\N,Likely benign,\N,missense_variant,0.002,0.000115554,EXAC_EAS_AF,KARS
391713,16:75674229:T>C,NM_001130089.1:c.325A>G,NP_001123561.1:p.Ser109Gly,4/15,\N,Unknown significance,\N,missense_variant,11.19,0.000060562,EXAC_SAS_AF,KARS
391714,16:75674229:T>G,NM_001130089.1:c.325A>C,NP_001123561.1:p.Ser109Arg,4/15,\N,Unknown significance,\N,missense_variant,15.43,0.0000863707,EXAC_AMR_AF,KARS
391715,16:75674231:C>T,NM_001130089.1:c.323G>A,NP_001123561.1:p.Arg108His,4/15,\N,Unknown significance,\N,missense_variant,24.9,0.00022748,EVS_AA_AF,KARS
391716,16:75674234:A>T,NM_001130089.1:c.320T>A,NP_001123561.1:p.Ile107Asn,4/15,\N,Unknown significance,\N,missense_variant,14.21,\N,\N,KARS
391717,16:75674244:A>T,NM_001130089.1:c.310T>A,NP_001123561.1:p.Tyr104Asn,4/15,\N,Unknown significance,\N,missense_variant,26,\N,\N,KARS
391718,16:75674245:T>C,NM_001130089.1:c.309A>G,NP_001123561.1:p.Gln103=,4/15,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.822,0.00011566,EXAC_EAS_AF,KARS
391719,16:75674246:T>C,NM_001130089.1:c.308A>G,NP_001123561.1:p.Gln103Arg,4/15,\N,Unknown significance,\N,missense_variant&splice_region_variant,21.9,0.0000150141,EXAC_NFE_AF,KARS
391720,16:75674248:C>A,NM_001130089.1:c.307-1G>T,\N,\N,3/14,Unknown significance,\N,splice_acceptor_variant,24.9,\N,\N,KARS
391721,16:75674250:G>GT,NM_001130089.1:c.307-4dup,\N,\N,3/14,Unknown significance,\N,splice_region_variant&intron_variant,8.52,0.0000153135,EXAC_NFE_AF,KARS
391722,16:75674252:TA>T,NM_001130089.1:c.307-6del,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,8.774,0.32948,EXAC_OTH_AF,KARS
391723,16:75674252:T>TA,NM_001130089.1:c.307-6dup,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,2.449,0.256344,EXAC_EAS_AF,KARS
391724,16:75674252:T>TAA,NM_001130089.1:c.307-7_307-6dup,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,2.302,0.0114038,EXAC_EAS_AF,KARS
391725,16:75674252:TAA>T,NM_001130089.1:c.307-7_307-6del,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,9.734,0.261805,EXAC_FIN_AF,KARS
391726,16:75674252:TAAA>T,NM_001130089.1:c.307-8_307-6del,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,12.99,0.00799402,EXAC_NFE_AF,KARS
391727,16:75674252:TAAAA>T,NM_001130089.1:c.307-9_307-6del,\N,\N,3/14,Unknown significance,\N,splice_region_variant&intron_variant,12.94,0.000287555,EXAC_NFE_AF,KARS
391728,16:75674253:A>T,NM_001130089.1:c.307-6T>A,\N,\N,3/14,Unknown significance,\N,splice_region_variant&intron_variant,3.228,\N,\N,KARS
391729,16:75674254:A>T,NM_001130089.1:c.307-7T>A,\N,\N,3/14,Benign,\N,splice_region_variant&intron_variant,3.971,0.00635593,EXAC_AFR_AF,KARS
391730,16:75674259:A>T,NM_001130089.1:c.307-12T>A,\N,\N,3/14,Unknown significance,\N,intron_variant,11.71,0.00455042,EXAC_SAS_AF,KARS
391731,16:75674271:G>A,NM_001130089.1:c.307-24C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,13.76,\N,\N,KARS
391732,16:75674272:C>T,NM_001130089.1:c.307-25G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,12.27,0.000465116,EVS_EA_AF,KARS
391733,16:75674273:C>G,NM_001130089.1:c.307-26G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,12.46,0.0014,1KG_AMR_AF,KARS
391734,16:75674274:C>T,NM_001130089.1:c.307-27G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,12.86,0.000302939,EXAC_FIN_AF,KARS
391735,16:75674276:TCAGAAGTTGAACCTGGTCAGAC>T,NM_001130089.1:c.307-51_307-30del,\N,\N,3/14,Unknown significance,\N,intron_variant,11.92,\N,\N,KARS
391736,16:75674282:G>C,NM_001130089.1:c.307-35C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,8.394,0.0000606061,EXAC_SAS_AF,KARS
391737,16:75674291:G>C,NM_001130089.1:c.307-44C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.136,0.0015,1KG_AFR_AF,KARS
391738,16:75674292:G>A,NM_001130089.1:c.307-45C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,8.402,0.0000606208,EXAC_SAS_AF,KARS
391739,16:75674305:G>A,NM_001130089.1:c.307-58C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,8.103,\N,\N,KARS
391740,16:75674338:G>A,NM_001130089.1:c.307-91C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,4.698,0.0008,1KG_AFR_AF,KARS
391741,16:75674349:A>G,NM_001130089.1:c.307-102T>C,\N,\N,3/14,Benign,\N,intron_variant,5.122,0.0086,1KG_AMR_AF,KARS
391742,16:75674376:C>G,NM_001130089.1:c.307-129G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,1.115,0.0029,1KG_AMR_AF,KARS
391743,16:75674410:C>G,NM_001130089.1:c.307-163G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,1.733,\N,\N,KARS
391744,16:75674424:A>G,NM_001130089.1:c.307-177T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,8.857,0.0031,1KG_SAS_AF,KARS
391745,16:75674455:A>C,NM_001130089.1:c.307-208T>G,\N,\N,3/14,Unknown significance,\N,intron_variant,3.894,\N,\N,KARS
391746,16:75674455:A>G,NM_001130089.1:c.307-208T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,6.09,\N,\N,KARS
391747,16:75674476:C>T,NM_001130089.1:c.307-229G>A,\N,\N,3/14,Benign,\N,intron_variant,3.811,0.747,1KG_EAS_AF,KARS
391748,16:75674498:A>G,NM_001130089.1:c.307-251T>C,\N,\N,3/14,Benign,\N,intron_variant,0.654,0.0174,1KG_AFR_AF,KARS
391749,16:75674508:T>C,NM_001130089.1:c.307-261A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.684,0.0008,1KG_AFR_AF,KARS
391750,16:75674513:A>C,NM_001130089.1:c.307-266T>G,\N,\N,3/14,Unknown significance,\N,intron_variant,0.357,0.001,1KG_EAS_AF,KARS
391751,16:75674530:T>C,NM_001130089.1:c.307-283A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,1.631,\N,\N,KARS
391752,16:75674538:A>G,NM_001130089.1:c.307-291T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,2.111,0.001,1KG_EAS_AF,KARS
391753,16:75674560:T>C,NM_001130089.1:c.307-313A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,3.074,\N,\N,KARS
391754,16:75674564:G>A,NM_001130089.1:c.307-317C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,4.09,\N,\N,KARS
391755,16:75674569:G>A,NM_001130089.1:c.307-322C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.255,0.001,1KG_EUR_AF,KARS
391756,16:75674569:G>C,NM_001130089.1:c.307-322C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,1.037,\N,\N,KARS
391757,16:75674571:G>C,NM_001130089.1:c.307-324C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,0.749,\N,\N,KARS
391758,16:75674579:C>T,NM_001130089.1:c.307-332G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,0.75,\N,\N,KARS
391759,16:75674622:C>A,NM_001130089.1:c.307-375G>T,\N,\N,3/14,Unknown significance,\N,intron_variant,7.747,\N,\N,KARS
391760,16:75674622:C>G,NM_001130089.1:c.307-375G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,5.338,0.003,1KG_EUR_AF,KARS
391761,16:75674651:G>A,NM_001130089.1:c.307-404C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.629,0.001,1KG_EUR_AF,KARS
391762,16:75674688:G>A,NM_001130089.1:c.307-441C>T,\N,\N,3/14,Benign,\N,intron_variant,4.096,0.5356,1KG_AFR_AF,KARS
391763,16:75674719:T>C,NM_001130089.1:c.307-472A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.15,\N,\N,KARS
391764,16:75674736:CA>C,NM_001130089.1:c.307-490del,\N,\N,3/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391765,16:75674761:C>A,NM_001130089.1:c.307-514G>T,\N,\N,3/14,Benign,\N,intron_variant,6.378,0.0204,1KG_SAS_AF,KARS
391766,16:75674780:C>G,NM_001130089.1:c.307-533G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,1.404,0.001,1KG_SAS_AF,KARS
391767,16:75674782:G>C,NM_001130089.1:c.307-535C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,0.69,0.002,1KG_SAS_AF,KARS
391768,16:75674786:T>C,NM_001130089.1:c.307-539A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,1.953,0.0038,1KG_AFR_AF,KARS
391769,16:75674789:A>G,NM_001130089.1:c.307-542T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,2.222,\N,\N,KARS
391770,16:75674793:C>A,NM_001130089.1:c.307-546G>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.748,0.001,1KG_SAS_AF,KARS
391771,16:75674794:A>G,NM_001130089.1:c.307-547T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,2.344,\N,\N,KARS
391772,16:75674811:C>A,NM_001130089.1:c.307-564G>T,\N,\N,3/14,Unknown significance,\N,intron_variant,6.705,\N,\N,KARS
391773,16:75674834:C>T,NM_001130089.1:c.307-587G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,3.068,\N,\N,KARS
391774,16:75674866:C>G,NM_001130089.1:c.306+596G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,3.18,\N,\N,KARS
391775,16:75674869:G>C,NM_001130089.1:c.306+593C>G,\N,\N,3/14,Benign,\N,intron_variant,0.392,0.1223,1KG_EUR_AF,KARS
391776,16:75674871:C>T,NM_001130089.1:c.306+591G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,2.819,\N,\N,KARS
391777,16:75674872:G>A,NM_001130089.1:c.306+590C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,4.495,\N,\N,KARS
391778,16:75674901:G>C,NM_001130089.1:c.306+561C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,0.557,\N,\N,KARS
391779,16:75674960:G>C,NM_001130089.1:c.306+502C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,4.577,0.001,1KG_EAS_AF,KARS
391780,16:75674966:C>G,NM_001130089.1:c.306+496G>C,\N,\N,3/14,Benign,\N,intron_variant,8.27,0.006,1KG_EAS_AF,KARS
391781,16:75674990:C>T,NM_001130089.1:c.306+472G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,0.064,0.001,1KG_SAS_AF,KARS
391782,16:75674991:G>A,NM_001130089.1:c.306+471C>T,\N,\N,3/14,Benign,\N,intron_variant,0.94,0.6855,1KG_EAS_AF,KARS
391783,16:75674999:G>A,NM_001130089.1:c.306+463C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,0.216,\N,\N,KARS
391784,16:75675001:A>G,NM_001130089.1:c.306+461T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,3.6,0.001,1KG_EAS_AF,KARS
391785,16:75675002:G>A,NM_001130089.1:c.306+460C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.611,0.001,1KG_EAS_AF,KARS
391786,16:75675013:G>T,NM_001130089.1:c.306+449C>A,\N,\N,3/14,Unknown significance,\N,intron_variant,1.525,0.003,1KG_EAS_AF,KARS
391787,16:75675029:T>A,NM_001130089.1:c.306+433A>T,\N,\N,3/14,Unknown significance,\N,intron_variant,6.57,\N,\N,KARS
391788,16:75675033:G>A,NM_001130089.1:c.306+429C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,1.324,\N,\N,KARS
391789,16:75675039:G>A,NM_001130089.1:c.306+423C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.07,\N,\N,KARS
391790,16:75675075:C>T,NM_001130089.1:c.306+387G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,0.656,\N,\N,KARS
391791,16:75675106:A>G,NM_001130089.1:c.306+356T>C,\N,\N,3/14,Unknown significance,\N,intron_variant,2.045,0.0014,1KG_AMR_AF,KARS
391792,16:75675120:G>GA,NM_001130089.1:c.306+341dup,\N,\N,3/14,Benign,\N,intron_variant,1.524,0.8651,1KG_EAS_AF,KARS
391793,16:75675143:T>C,NM_001130089.1:c.306+319A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.49,0.001,1KG_EUR_AF,KARS
391794,16:75675177:G>C,NM_001130089.1:c.306+285C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.513,\N,\N,KARS
391795,16:75675179:C>G,NM_001130089.1:c.306+283G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,4.639,0.0008,1KG_AFR_AF,KARS
391796,16:75675188:G>C,NM_001130089.1:c.306+274C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,1.32,\N,\N,KARS
391797,16:75675196:C>G,NM_001130089.1:c.306+266G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,1.927,0.0008,1KG_AFR_AF,KARS
391798,16:75675200:C>A,NM_001130089.1:c.306+262G>T,\N,\N,3/14,Benign,\N,intron_variant,5.952,0.0058,1KG_AMR_AF,KARS
391799,16:75675213:A>C,NM_001130089.1:c.306+249T>G,\N,\N,3/14,Unknown significance,\N,intron_variant,3.663,\N,\N,KARS
391800,16:75675222:T>A,NM_001130089.1:c.306+240A>T,\N,\N,3/14,Unknown significance,\N,intron_variant,7.917,0.0014,1KG_AMR_AF,KARS
391801,16:75675231:G>A,NM_001130089.1:c.306+231C>T,\N,\N,3/14,Benign,\N,intron_variant,5.072,0.0083,1KG_AFR_AF,KARS
391802,16:75675241:T>C,NM_001130089.1:c.306+221A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,4.866,0.001,1KG_SAS_AF,KARS
391803,16:75675275:T>C,NM_001130089.1:c.306+187A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,4.258,\N,\N,KARS
391804,16:75675287:T>A,NM_001130089.1:c.306+175A>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.275,\N,\N,KARS
391805,16:75675296:C>T,NM_001130089.1:c.306+166G>A,\N,\N,3/14,Benign,\N,intron_variant,7.731,0.0113,1KG_AFR_AF,KARS
391806,16:75675304:C>T,NM_001130089.1:c.306+158G>A,\N,\N,3/14,Unknown significance,\N,intron_variant,5.107,0.0015,1KG_AFR_AF,KARS
391807,16:75675319:G>A,NM_001130089.1:c.306+143C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,3.577,0.002,1KG_EAS_AF,KARS
391808,16:75675369:G>T,NM_001130089.1:c.306+93C>A,\N,\N,3/14,Unknown significance,\N,intron_variant,5.934,\N,\N,KARS
391809,16:75675375:TC>T,NM_001130089.1:c.306+86del,\N,\N,3/14,Benign,\N,intron_variant,1.8,0.0507,1KG_AFR_AF,KARS
391810,16:75675391:C>T,NM_001130089.1:c.306+71G>A,\N,\N,3/14,Benign,\N,intron_variant,5.413,0.0174,1KG_AFR_AF,KARS
391811,16:75675399:C>G,NM_001130089.1:c.306+63G>C,\N,\N,3/14,Unknown significance,\N,intron_variant,1.517,\N,\N,KARS
391812,16:75675407:A>T,NM_001130089.1:c.306+55T>A,\N,\N,3/14,Unknown significance,\N,intron_variant,5.761,0.001,1KG_EAS_AF,KARS
391813,16:75675411:T>C,NM_001130089.1:c.306+51A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,5.855,0.0000671953,EXAC_SAS_AF,KARS
391814,16:75675413:A>T,NM_001130089.1:c.306+49T>A,\N,\N,3/14,Unknown significance,\N,intron_variant,4.846,0.0000670691,EXAC_SAS_AF,KARS
391815,16:75675415:C>A,NM_001130089.1:c.306+47G>T,\N,\N,3/14,Unknown significance,\N,intron_variant,6.014,0.0000183338,EXAC_NFE_AF,KARS
391816,16:75675418:A>C,NM_001130089.1:c.306+44T>G,\N,\N,3/14,Unknown significance,\N,intron_variant,1.376,0.0000669344,EXAC_SAS_AF,KARS
391817,16:75675420:G>C,NM_001130089.1:c.306+42C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,2.252,0.0000182189,EXAC_NFE_AF,KARS
391818,16:75675422:T>C,NM_001130089.1:c.306+40A>G,\N,\N,3/14,Unknown significance,\N,intron_variant,5.17,0.00014573,EXAC_EAS_AF,KARS
391819,16:75675429:T>G,NM_001130089.1:c.306+33A>C,\N,\N,3/14,Unknown significance,\N,intron_variant,5.897,\N,\N,KARS
391820,16:75675444:G>C,NM_001130089.1:c.306+18C>G,\N,\N,3/14,Unknown significance,\N,intron_variant,0.783,0.0000172652,EXAC_NFE_AF,KARS
391821,16:75675448:C>A,NM_001130089.1:c.306+14G>T,\N,\N,3/14,Unknown significance,\N,intron_variant,6.348,0.00123457,EXAC_OTH_AF,KARS
391822,16:75675452:G>A,NM_001130089.1:c.306+10C>T,\N,\N,3/14,Unknown significance,\N,intron_variant,9.572,0.000116279,EVS_EA_AF,KARS
391823,16:75675454:G>C,NM_001130089.1:c.306+8C>G,\N,\N,3/14,Unknown significance,\N,splice_region_variant&intron_variant,3.332,0.0000164913,EXAC_NFE_AF,KARS
391824,16:75675459:C>T,NM_001130089.1:c.306+3G>A,\N,\N,3/14,Unknown significance,\N,splice_region_variant&intron_variant,16.85,0.0000323897,EXAC_NFE_AF,KARS
391825,16:75675461:C>T,NM_001130089.1:c.306+1G>A,\N,\N,3/14,Unknown significance,\N,splice_donor_variant,27.8,0.000116279,EVS_EA_AF,KARS
391826,16:75675473:C>T,NM_001130089.1:c.295G>A,NP_001123561.1:p.Val99Met,3/15,\N,Unknown significance,\N,missense_variant,16.07,0.0014,1KG_AMR_AF,KARS
391827,16:75675481:T>A,NM_001130089.1:c.287A>T,NP_001123561.1:p.Glu96Val,3/15,\N,Unknown significance,\N,missense_variant,29,0.00022748,EVS_AA_AF,KARS
391828,16:75675483:C>G,NM_001130089.1:c.285G>C,NP_001123561.1:p.Glu95Asp,3/15,\N,Likely benign,\N,missense_variant,6.272,0.0000152184,EXAC_NFE_AF,KARS
391829,16:75675488:G>C,NM_001130089.1:c.280C>G,NP_001123561.1:p.Pro94Ala,3/15,\N,Likely benign,\N,missense_variant,0.001,0.0000607977,EXAC_SAS_AF,KARS
391830,16:75675490:C>T,NM_001130089.1:c.278G>A,NP_001123561.1:p.Gly93Asp,3/15,\N,Likely benign,\N,missense_variant,7.59,\N,\N,KARS
391831,16:75675490:CCCACACCATTATCAGTGGTGTGGT>C,NM_001130089.1:c.254_277del,NP_001123561.1:p.Asn85_Gly93delinsSer,3/15,\N,Unknown significance,\N,inframe_deletion,18.5,\N,\N,KARS
391832,16:75675492:C>T,NM_001130089.1:c.276G>A,NP_001123561.1:p.Val92=,3/15,\N,Unknown significance,\N,synonymous_variant,9.251,0.0000963948,EXAC_AFR_AF,KARS
391833,16:75675495:A>G,NM_001130089.1:c.273T>C,NP_001123561.1:p.Gly91=,3/15,\N,Unknown significance,\N,synonymous_variant,0.006,0.0000150802,EXAC_NFE_AF,KARS
391834,16:75675505:G>C,NM_001130089.1:c.263C>G,NP_001123561.1:p.Thr88Ser,3/15,\N,Likely benign,\N,missense_variant,0.025,0.0000606061,EXAC_SAS_AF,KARS
391835,16:75675509:T>C,NM_001130089.1:c.259A>G,NP_001123561.1:p.Thr87Ala,3/15,\N,Likely benign,\N,missense_variant,0.003,0.000015034,EXAC_NFE_AF,KARS
391836,16:75675509:TGTG>T,NM_001130089.1:c.256_258del,NP_001123561.1:p.His86del,3/15,\N,Unknown significance,\N,inframe_deletion,17.41,0.000015034,EXAC_NFE_AF,KARS
391837,16:75675514:T>A,NM_001130089.1:c.254A>T,NP_001123561.1:p.Asn85Ile,3/15,\N,Unknown significance,\N,missense_variant,8.005,0.0000605767,EXAC_SAS_AF,KARS
391838,16:75675514:T>C,NM_001130089.1:c.254A>G,NP_001123561.1:p.Asn85Ser,3/15,\N,Benign,\N,missense_variant,0.001,0.0368519,EXAC_EAS_AF,KARS
391839,16:75675514:T>G,NM_001130089.1:c.254A>C,NP_001123561.1:p.Asn85Thr,3/15,\N,Unknown significance,\N,missense_variant,0.016,0.0000605767,EXAC_SAS_AF,KARS
391840,16:75675516:G>A,NM_001130089.1:c.252C>T,NP_001123561.1:p.Thr84=,3/15,\N,Unknown significance,\N,synonymous_variant,2.338,0.0008,1KG_AFR_AF,KARS
391841,16:75675517:G>C,NM_001130089.1:c.251C>G,NP_001123561.1:p.Thr84Ser,3/15,\N,Likely benign,\N,missense_variant,0.329,0.0000864902,EXAC_AMR_AF,KARS
391842,16:75675518:T>G,NM_001130089.1:c.250A>C,NP_001123561.1:p.Thr84Pro,3/15,\N,Likely benign,\N,missense_variant,6.399,\N,\N,KARS
391843,16:75675519:G>A,NM_001130089.1:c.249C>T,NP_001123561.1:p.Ala83=,3/15,\N,Unknown significance,\N,synonymous_variant,6.024,0.0000150087,EXAC_NFE_AF,KARS
391844,16:75675522:A>G,NM_001130089.1:c.246T>C,NP_001123561.1:p.Ala82=,3/15,\N,Unknown significance,\N,synonymous_variant,1.358,0.00121065,EXAC_AMR_AF,KARS
391845,16:75675527:C>T,NM_001130089.1:c.241G>A,NP_001123561.1:p.Ala81Thr,3/15,\N,Likely benign,\N,missense_variant,8.472,0.001,1KG_EAS_AF,KARS
391846,16:75675529:G>A,NM_001130089.1:c.239C>T,NP_001123561.1:p.Thr80Ile,3/15,\N,Likely benign,\N,missense_variant,7.899,0.0000961354,EXAC_AFR_AF,KARS
391847,16:75675534:T>C,NM_001130089.1:c.234A>G,NP_001123561.1:p.Gln78=,3/15,\N,Unknown significance,\N,synonymous_variant,0.189,0.00011566,EXAC_EAS_AF,KARS
391848,16:75675540:T>G,NM_001130089.1:c.228A>C,NP_001123561.1:p.Leu76=,3/15,\N,Unknown significance,\N,synonymous_variant,8.861,0.0000149907,EXAC_NFE_AF,KARS
391849,16:75675549:C>G,NM_005548.2:c.135G>C,NP_005539.1:p.Glu45Asp,2/14,\N,Unknown significance,\N,missense_variant,24,0.000151194,EXAC_FIN_AF,KARS
391850,16:75675552:A>C,NM_001130089.1:c.216T>G,NP_001123561.1:p.Ser72Arg,3/15,\N,Likely benign,\N,missense_variant,13.55,0.0000149871,EXAC_NFE_AF,KARS
391851,16:75675552:A>G,NM_001130089.1:c.216T>C,NP_001123561.1:p.Ser72=,3/15,\N,Unknown significance,\N,synonymous_variant,7.17,\N,\N,KARS
391852,16:75675557:G>C,NM_001130089.1:c.211C>G,NP_001123561.1:p.Leu71Val,3/15,\N,Unknown significance,\N,missense_variant,17.45,\N,\N,KARS
391853,16:75675559:T>G,NM_001130089.1:c.209A>C,NP_001123561.1:p.Glu70Ala,3/15,\N,Unknown significance,\N,missense_variant,23.4,0.000231214,EXAC_EAS_AF,KARS
391854,16:75675561:T>C,NM_001130089.1:c.207A>G,NP_001123561.1:p.Lys69=,3/15,\N,Unknown significance,\N,synonymous_variant,1.313,0.000232558,EVS_EA_AF,KARS
391855,16:75675564:C>T,NM_001130089.1:c.204G>A,NP_001123561.1:p.Gln68=,3/15,\N,Unknown significance,\N,synonymous_variant,13.51,0.000116279,EVS_EA_AF,KARS
391856,16:75675576:C>T,NM_001130089.1:c.192G>A,NP_001123561.1:p.Lys64=,3/15,\N,Unknown significance,\N,synonymous_variant,15.38,0.0015,1KG_AFR_AF,KARS
391857,16:75675591:C>A,NM_005548.2:c.93G>T,NP_005539.1:p.Lys31Asn,2/14,\N,Unknown significance,\N,missense_variant,25.2,0.0000863707,EXAC_AMR_AF,KARS
391858,16:75675599:C>G,NM_001130089.1:c.169G>C,NP_001123561.1:p.Ala57Pro,3/15,\N,Unknown significance,\N,missense_variant,32,0.000116279,EVS_EA_AF,KARS
391859,16:75675607:C>T,NM_005548.2:c.77G>A,NP_005539.1:p.Arg26His,2/14,\N,Unknown significance,\N,missense_variant,23.8,0.0000149849,EXAC_NFE_AF,KARS
391860,16:75675608:G>A,NM_001130089.1:c.160C>T,NP_001123561.1:p.Arg54Cys,3/15,\N,Unknown significance,\N,missense_variant,35,0.0000605694,EXAC_SAS_AF,KARS
391861,16:75675609:T>C,NM_001130089.1:c.159A>G,NP_001123561.1:p.Arg53=,3/15,\N,Benign,\N,synonymous_variant,4.935,0.109535,EVS_EA_AF,KARS
391862,16:75675615:C>T,NM_001130089.1:c.153G>A,NP_001123561.1:p.Leu51=,3/15,\N,Unknown significance,\N,synonymous_variant,11.39,\N,\N,KARS
391863,16:75675617:G>A,NM_001130089.1:c.151C>T,NP_001123561.1:p.Leu51=,3/15,\N,Unknown significance,\N,synonymous_variant,9.534,0.0000449559,EXAC_NFE_AF,KARS
391864,16:75675618:C>A,NM_001130089.1:c.150G>T,NP_001123561.1:p.Glu50Asp,3/15,\N,Unknown significance,\N,missense_variant,27.6,0.0000149853,EXAC_NFE_AF,KARS
391865,16:75675618:C>G,NM_001130089.1:c.150G>C,NP_001123561.1:p.Glu50Asp,3/15,\N,Unknown significance,\N,missense_variant,26.3,0.000116279,EVS_EA_AF,KARS
391866,16:75675618:C>T,NM_001130089.1:c.150G>A,NP_001123561.1:p.Glu50=,3/15,\N,Unknown significance,\N,synonymous_variant,12.9,0.0000149853,EXAC_NFE_AF,KARS
391867,16:75675625:T>C,NM_001130089.1:c.147-4A>G,\N,\N,2/14,Unknown significance,\N,splice_region_variant&intron_variant,11.44,\N,\N,KARS
391868,16:75675629:A>G,NM_001130089.1:c.147-8T>C,\N,\N,2/14,Unknown significance,\N,splice_region_variant&intron_variant,8.088,\N,\N,KARS
391869,16:75675630:A>AAGG,NM_001130089.1:c.147-10_147-9insCCT,\N,\N,2/14,Unknown significance,\N,intron_variant,11.45,\N,\N,KARS
391870,16:75675633:A>G,NM_001130089.1:c.147-12T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,11.75,0.0000299715,EXAC_NFE_AF,KARS
391871,16:75675640:C>G,NM_001130089.1:c.147-19G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,4.465,0.0000605694,EXAC_SAS_AF,KARS
391872,16:75675640:C>T,NM_001130089.1:c.147-19G>A,\N,\N,2/14,Benign,\N,intron_variant,5.735,0.0150289,EXAC_EAS_AF,KARS
391873,16:75675641:G>A,NM_001130089.1:c.147-20C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,1.453,0.0038,1KG_AFR_AF,KARS
391874,16:75675644:C>G,NM_001130089.1:c.147-23G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,6.875,0.0000299733,EXAC_NFE_AF,KARS
391875,16:75675646:A>G,NM_001130089.1:c.147-25T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.707,0.0000149871,EXAC_NFE_AF,KARS
391876,16:75675647:TG>T,NM_001130089.1:c.147-27del,\N,\N,2/14,Unknown significance,\N,intron_variant,6.744,0.0000863856,EXAC_AMR_AF,KARS
391877,16:75675648:G>A,NM_001130089.1:c.147-27C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,5.694,0.0000605694,EXAC_SAS_AF,KARS
391878,16:75675649:T>C,NM_001130089.1:c.147-28A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.979,0.0000149876,EXAC_NFE_AF,KARS
391879,16:75675650:G>A,NM_001130089.1:c.147-29C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,6.442,0.00004496,EXAC_NFE_AF,KARS
391880,16:75675650:G>C,NM_001130089.1:c.147-29C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,2.56,0.0000149867,EXAC_NFE_AF,KARS
391881,16:75675652:T>C,NM_001130089.1:c.147-31A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.708,0.0008,1KG_AFR_AF,KARS
391882,16:75675661:G>C,NM_001130089.1:c.147-40C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.04,0.0000149885,EXAC_NFE_AF,KARS
391883,16:75675663:A>G,NM_001130089.1:c.147-42T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.446,0.000231267,EXAC_EAS_AF,KARS
391884,16:75675668:C>T,NM_001130089.1:c.147-47G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,5.246,0.0000961908,EXAC_AFR_AF,KARS
391885,16:75675692:T>A,NM_001130089.1:c.147-71A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,8.263,0.001,1KG_SAS_AF,KARS
391886,16:75675704:T>C,NM_001130089.1:c.147-83A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.449,0.0008,1KG_AFR_AF,KARS
391887,16:75675709:C>T,NM_001130089.1:c.147-88G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,2.964,\N,\N,KARS
391888,16:75675735:T>C,NM_001130089.1:c.147-114A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,6.595,\N,\N,KARS
391889,16:75675792:CTT>C,NM_001130089.1:c.147-173_147-172del,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391890,16:75675859:C>G,NM_001130089.1:c.147-238G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,2.684,0.0015,1KG_AFR_AF,KARS
391891,16:75675875:G>C,NM_001130089.1:c.147-254C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.141,0.0015,1KG_AFR_AF,KARS
391892,16:75675879:C>T,NM_001130089.1:c.147-258G>A,\N,\N,2/14,Benign,\N,intron_variant,3.539,0.0522,1KG_AFR_AF,KARS
391893,16:75675958:G>T,NM_001130089.1:c.147-337C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.086,0.001,1KG_EUR_AF,KARS
391894,16:75675967:G>C,NM_001130089.1:c.147-346C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,8.653,0.0008,1KG_AFR_AF,KARS
391895,16:75675975:G>C,NM_001130089.1:c.147-354C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.817,\N,\N,KARS
391896,16:75675975:G>T,NM_001130089.1:c.147-354C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,1.526,\N,\N,KARS
391897,16:75675978:T>C,NM_001130089.1:c.147-357A>G,\N,\N,2/14,Benign,\N,intron_variant,5.257,0.0318,1KG_AFR_AF,KARS
391898,16:75676023:G>A,NM_001130089.1:c.147-402C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.624,0.0015,1KG_AFR_AF,KARS
391899,16:75676028:T>C,NM_001130089.1:c.147-407A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.295,0.001,1KG_SAS_AF,KARS
391900,16:75676028:T>G,NM_001130089.1:c.147-407A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.299,\N,\N,KARS
391901,16:75676040:G>C,NM_001130089.1:c.147-419C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.699,\N,\N,KARS
391902,16:75676050:C>T,NM_001130089.1:c.147-429G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,4.296,\N,\N,KARS
391903,16:75676083:CTT>C,NM_001130089.1:c.147-464_147-463del,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391904,16:75676083:CTTTTTTTTTTTTTTTTT>C,NM_001130089.1:c.147-479_147-463del,\N,\N,2/14,Unknown significance,\N,intron_variant,3.915,\N,\N,KARS
391905,16:75676083:CTTTTTTTTTTTTTTTTTT>C,NM_001130089.1:c.147-480_147-463del,\N,\N,2/14,Unknown significance,\N,intron_variant,3.744,\N,\N,KARS
391906,16:75676117:T>A,NM_001130089.1:c.147-496A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.148,\N,\N,KARS
391907,16:75676122:G>A,NM_001130089.1:c.147-501C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.933,\N,\N,KARS
391908,16:75676164:A>G,NM_001130089.1:c.147-543T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,2.196,\N,\N,KARS
391909,16:75676192:C>T,NM_001130089.1:c.147-571G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.454,0.004,1KG_EAS_AF,KARS
391910,16:75676193:G>A,NM_001130089.1:c.147-572C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,0.486,0.0008,1KG_AFR_AF,KARS
391911,16:75676194:G>A,NM_001130089.1:c.147-573C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.93,\N,\N,KARS
391912,16:75676204:G>A,NM_001130089.1:c.147-583C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.634,\N,\N,KARS
391913,16:75676243:G>C,NM_001130089.1:c.147-622C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.872,\N,\N,KARS
391914,16:75676247:T>A,NM_001130089.1:c.147-626A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.112,\N,\N,KARS
391915,16:75676288:C>G,NM_001130089.1:c.147-667G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,0.059,0.001,1KG_EUR_AF,KARS
391916,16:75676296:C>T,NM_001130089.1:c.147-675G>A,\N,\N,2/14,Benign,\N,intron_variant,2.62,0.0149,1KG_EUR_AF,KARS
391917,16:75676302:G>A,NM_001130089.1:c.147-681C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,1.838,0.0031,1KG_SAS_AF,KARS
391918,16:75676331:C>T,NM_001130089.1:c.147-710G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,4.474,\N,\N,KARS
391919,16:75676377:G>A,NM_001130089.1:c.147-756C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,1.724,0.0008,1KG_AFR_AF,KARS
391920,16:75676389:C>A,NM_001130089.1:c.147-768G>T,\N,\N,2/14,Benign,\N,intron_variant,3.652,0.0053,1KG_AFR_AF,KARS
391921,16:75676390:T>A,NM_001130089.1:c.147-769A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,5.261,0.001,1KG_EAS_AF,KARS
391922,16:75676399:C>T,NM_001130089.1:c.147-778G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,3.063,0.001,1KG_SAS_AF,KARS
391923,16:75676402:T>C,NM_001130089.1:c.147-781A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.728,\N,\N,KARS
391924,16:75676404:C>G,NM_001130089.1:c.147-783G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,1.299,\N,\N,KARS
391925,16:75676425:G>C,NM_001130089.1:c.147-804C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.517,0.0008,1KG_AFR_AF,KARS
391926,16:75676426:C>G,NM_001130089.1:c.147-805G>C,\N,\N,2/14,Benign,\N,intron_variant,2.859,0.0318,1KG_AFR_AF,KARS
391927,16:75676449:C>A,NM_001130089.1:c.147-828G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,5.339,0.003,1KG_AFR_AF,KARS
391928,16:75676456:C>A,NM_001130089.1:c.147-835G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,5.016,\N,\N,KARS
391929,16:75676473:G>C,NM_001130089.1:c.147-852C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.369,\N,\N,KARS
391930,16:75676477:G>C,NM_001130089.1:c.147-856C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.475,0.0029,1KG_AMR_AF,KARS
391931,16:75676484:G>A,NM_001130089.1:c.147-863C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.194,0.001,1KG_EAS_AF,KARS
391932,16:75676504:G>A,NM_001130089.1:c.147-883C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,4.492,0.0008,1KG_AFR_AF,KARS
391933,16:75676505:G>A,NM_001130089.1:c.147-884C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,4.284,0.001,1KG_EAS_AF,KARS
391934,16:75676507:T>C,NM_001130089.1:c.147-886A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,2.808,\N,\N,KARS
391935,16:75676513:G>T,NM_001130089.1:c.147-892C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,2.934,\N,\N,KARS
391936,16:75676599:G>C,NM_001130089.1:c.147-978C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.52,\N,\N,KARS
391937,16:75676615:G>A,NM_001130089.1:c.147-994C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.631,\N,\N,KARS
391938,16:75676626:C>T,NM_001130089.1:c.147-1005G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,6.373,0.0008,1KG_AFR_AF,KARS
391939,16:75676631:T>C,NM_001130089.1:c.147-1010A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.065,0.0008,1KG_AFR_AF,KARS
391940,16:75676639:G>C,NM_001130089.1:c.147-1018C>G,\N,\N,2/14,Benign,\N,intron_variant,1.095,0.0061,1KG_AFR_AF,KARS
391941,16:75676641:G>T,NM_001130089.1:c.147-1020C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,1.878,\N,\N,KARS
391942,16:75676648:T>A,NM_001130089.1:c.147-1027A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.254,\N,\N,KARS
391943,16:75676658:G>C,NM_001130089.1:c.147-1037C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.168,\N,\N,KARS
391944,16:75676661:G>A,NM_001130089.1:c.147-1040C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,6.475,0.001,1KG_SAS_AF,KARS
391945,16:75676669:G>C,NM_001130089.1:c.147-1048C>G,\N,\N,2/14,Benign,\N,intron_variant,5.98,0.0964,1KG_EUR_AF,KARS
391946,16:75676669:GC>CT,NM_001130089.1:c.147-1049_147-1048delinsAG,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391947,16:75676670:C>T,NM_001130089.1:c.147-1049G>A,\N,\N,2/14,Benign,\N,intron_variant,7.197,0.0964,1KG_EUR_AF,KARS
391948,16:75676684:C>T,NM_001130089.1:c.147-1063G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,7.499,\N,\N,KARS
391949,16:75676751:T>A,NM_001130089.1:c.147-1130A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,9.242,\N,\N,KARS
391950,16:75676771:T>C,NM_001130089.1:c.147-1150A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.586,0.0008,1KG_AFR_AF,KARS
391951,16:75676784:T>C,NM_001130089.1:c.147-1163A>G,\N,\N,2/14,Benign,\N,intron_variant,2.128,0.0083,1KG_AFR_AF,KARS
391952,16:75676796:G>C,NM_001130089.1:c.147-1175C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,2.179,\N,\N,KARS
391953,16:75676823:T>G,NM_001130089.1:c.147-1202A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.916,\N,\N,KARS
391954,16:75676828:T>C,NM_001130089.1:c.147-1207A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,2.811,\N,\N,KARS
391955,16:75676833:C>G,NM_001130089.1:c.147-1212G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,2.204,0.001,1KG_SAS_AF,KARS
391956,16:75676851:T>C,NM_001130089.1:c.147-1230A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.789,0.0008,1KG_AFR_AF,KARS
391957,16:75676856:G>GT,NM_001130089.1:c.147-1236dup,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
391958,16:75676859:T>G,NM_001130089.1:c.147-1238A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.336,0.003,1KG_EAS_AF,KARS
391959,16:75676863:T>G,NM_001130089.1:c.147-1242A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,6.322,0.001,1KG_EUR_AF,KARS
391960,16:75676913:T>C,NM_001130089.1:c.146+1268A>G,\N,\N,2/14,Benign,\N,intron_variant,4.697,0.0109,1KG_EAS_AF,KARS
391961,16:75676918:G>A,NM_001130089.1:c.146+1263C>T,\N,\N,2/14,Benign,\N,intron_variant,5.683,0.0424,1KG_AFR_AF,KARS
391962,16:75676924:T>C,NM_001130089.1:c.146+1257A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,5.085,\N,\N,KARS
391963,16:75676930:G>A,NM_001130089.1:c.146+1251C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.407,\N,\N,KARS
391964,16:75676950:T>G,NM_001130089.1:c.146+1231A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,8.827,0.001,1KG_EAS_AF,KARS
391965,16:75676970:A>C,NM_001130089.1:c.146+1211T>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.188,\N,\N,KARS
391966,16:75676982:C>T,NM_001130089.1:c.146+1199G>A,\N,\N,2/14,Benign,\N,intron_variant,3.51,0.1113,1KG_EUR_AF,KARS
391967,16:75676999:T>C,NM_001130089.1:c.146+1182A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.113,\N,\N,KARS
391968,16:75677001:C>G,NM_001130089.1:c.146+1180G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,1.467,0.0014,1KG_AMR_AF,KARS
391969,16:75677025:A>G,NM_001130089.1:c.146+1156T>C,\N,\N,2/14,Benign,\N,intron_variant,5.622,0.0109,1KG_EAS_AF,KARS
391970,16:75677026:T>C,NM_001130089.1:c.146+1155A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.072,\N,\N,KARS
391971,16:75677027:A>G,NM_001130089.1:c.146+1154T>C,\N,\N,2/14,Benign,\N,intron_variant,1.983,0.7619,1KG_EAS_AF,KARS
391972,16:75677042:T>A,NM_001130089.1:c.146+1139A>T,\N,\N,2/14,Unknown significance,\N,intron_variant,9.653,0.001,1KG_SAS_AF,KARS
391973,16:75677042:T>C,NM_001130089.1:c.146+1139A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,7.366,\N,\N,KARS
391974,16:75677067:G>C,NM_001130089.1:c.146+1114C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.402,\N,\N,KARS
391975,16:75677102:A>G,NM_001130089.1:c.146+1079T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,2.667,0.0008,1KG_AFR_AF,KARS
391976,16:75677123:A>G,NM_001130089.1:c.146+1058T>C,\N,\N,2/14,Benign,\N,intron_variant,4.124,0.0182,1KG_AFR_AF,KARS
391977,16:75677126:G>A,NM_001130089.1:c.146+1055C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.098,\N,\N,KARS
391978,16:75677126:G>T,NM_001130089.1:c.146+1055C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.947,0.002,1KG_SAS_AF,KARS
391979,16:75677129:G>C,NM_001130089.1:c.146+1052C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.483,0.001,1KG_EAS_AF,KARS
391980,16:75677138:C>A,NM_001130089.1:c.146+1043G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,7.804,\N,\N,KARS
391981,16:75677152:T>C,NM_001130089.1:c.146+1029A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.916,0.001,1KG_SAS_AF,KARS
391982,16:75677155:T>C,NM_001130089.1:c.146+1026A>G,\N,\N,2/14,Benign,\N,intron_variant,5.358,0.007,1KG_EUR_AF,KARS
391983,16:75677186:C>T,NM_001130089.1:c.146+995G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,3.159,\N,\N,KARS
391984,16:75677192:C>A,NM_001130089.1:c.146+989G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,4.967,0.0008,1KG_AFR_AF,KARS
391985,16:75677199:G>C,NM_001130089.1:c.146+982C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,2.993,\N,\N,KARS
391986,16:75677205:G>A,NM_001130089.1:c.146+976C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,4.748,0.001,1KG_EAS_AF,KARS
391987,16:75677219:T>C,NM_001130089.1:c.146+962A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,4.175,\N,\N,KARS
391988,16:75677236:G>A,NM_001130089.1:c.146+945C>T,\N,\N,2/14,Benign,\N,intron_variant,3.412,0.0159,1KG_AMR_AF|1KG_EUR_AF,KARS
391989,16:75677252:T>C,NM_001130089.1:c.146+929A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.394,\N,\N,KARS
391990,16:75677273:T>C,NM_001130089.1:c.146+908A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.886,0.001,1KG_EAS_AF,KARS
391991,16:75677277:C>CT,NM_001130089.1:c.146+903dup,\N,\N,2/14,Unknown significance,\N,intron_variant,4.32,\N,\N,KARS
391992,16:75677294:G>T,NM_001130089.1:c.146+887C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.891,\N,\N,KARS
391993,16:75677327:G>A,NM_001130089.1:c.146+854C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,1.581,\N,\N,KARS
391994,16:75677368:C>T,NM_001130089.1:c.146+813G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.759,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
391995,16:75677369:G>A,NM_001130089.1:c.146+812C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,1.882,0.001,1KG_EUR_AF,KARS
391996,16:75677399:C>T,NM_001130089.1:c.146+782G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.369,\N,\N,KARS
391997,16:75677400:G>A,NM_001130089.1:c.146+781C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,0.387,0.003,1KG_AFR_AF,KARS
391998,16:75677422:C>T,NM_001130089.1:c.146+759G>A,\N,\N,2/14,Benign,\N,intron_variant,1.493,0.0964,1KG_EUR_AF,KARS
391999,16:75677425:G>A,NM_001130089.1:c.146+756C>T,\N,\N,2/14,Benign,\N,intron_variant,0.473,0.0076,1KG_AFR_AF,KARS
392000,16:75677434:C>A,NM_001130089.1:c.146+747G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,0.079,\N,\N,KARS
392001,16:75677436:C>T,NM_001130089.1:c.146+745G>A,\N,\N,2/14,Benign,\N,intron_variant,2.817,0.0454,1KG_AFR_AF,KARS
392002,16:75677453:A>G,NM_001130089.1:c.146+728T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,1.799,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,KARS
392003,16:75677479:G>A,NM_001130089.1:c.146+702C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,0.57,0.0015,1KG_AFR_AF,KARS
392004,16:75677487:C>T,NM_001130089.1:c.146+694G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,3.789,\N,\N,KARS
392005,16:75677490:G>A,NM_001130089.1:c.146+691C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,3.187,0.0015,1KG_AFR_AF,KARS
392006,16:75677513:G>A,NM_001130089.1:c.146+668C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.175,\N,\N,KARS
392007,16:75677533:T>TC,NM_001130089.1:c.146+647dup,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
392008,16:75677536:C>A,NM_001130089.1:c.146+645G>T,\N,\N,2/14,Unknown significance,\N,intron_variant,5.248,0.0014,1KG_AMR_AF,KARS
392009,16:75677540:G>A,NM_001130089.1:c.146+641C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,2.497,0.0008,1KG_AFR_AF,KARS
392010,16:75677556:C>T,NM_001130089.1:c.146+625G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,3.037,0.0031,1KG_SAS_AF,KARS
392011,16:75677557:G>T,NM_001130089.1:c.146+624C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,0.294,0.001,1KG_EUR_AF,KARS
392012,16:75677570:C>G,NM_001130089.1:c.146+611G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,2.006,0.002,1KG_EAS_AF,KARS
392013,16:75677576:C>A,NM_001130089.1:c.146+605G>T,\N,\N,2/14,Benign,\N,intron_variant,0.905,0.3563,1KG_AFR_AF,KARS
392014,16:75677586:A>G,NM_001130089.1:c.146+595T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,6.254,\N,\N,KARS
392015,16:75677628:T>C,NM_001130089.1:c.146+553A>G,\N,\N,2/14,Benign,\N,intron_variant,0.539,0.0159,1KG_AFR_AF,KARS
392016,16:75677631:C>T,NM_001130089.1:c.146+550G>A,\N,\N,2/14,Benign,\N,intron_variant,4.324,0.0522,1KG_AFR_AF,KARS
392017,16:75677667:A>T,NM_001130089.1:c.146+514T>A,\N,\N,2/14,Unknown significance,\N,intron_variant,1.986,\N,\N,KARS
392018,16:75677689:T>C,NM_001130089.1:c.146+492A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.04,0.0008,1KG_AFR_AF,KARS
392019,16:75677689:T>G,NM_001130089.1:c.146+492A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,4.997,\N,\N,KARS
392020,16:75677713:T>C,NM_001130089.1:c.146+468A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,4.097,0.001,1KG_EUR_AF,KARS
392021,16:75677745:T>C,NM_001130089.1:c.146+436A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,3.506,0.001,1KG_SAS_AF,KARS
392022,16:75677753:C>G,NM_001130089.1:c.146+428G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,3.839,\N,\N,KARS
392023,16:75677792:C>G,NM_001130089.1:c.146+389G>C,\N,\N,2/14,Unknown significance,\N,intron_variant,5.106,\N,\N,KARS
392024,16:75677818:G>T,NM_001130089.1:c.146+363C>A,\N,\N,2/14,Benign,\N,intron_variant,11.95,0.0089,1KG_EAS_AF,KARS
392025,16:75677837:T>C,NM_001130089.1:c.146+344A>G,\N,\N,2/14,Unknown significance,\N,intron_variant,16.54,\N,\N,KARS
392026,16:75677841:G>C,NM_001130089.1:c.146+340C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,14.55,0.003,1KG_EAS_AF,KARS
392027,16:75677842:A>T,NM_001130089.1:c.146+339T>A,\N,\N,2/14,Unknown significance,\N,intron_variant,15.21,\N,\N,KARS
392028,16:75677876:G>A,NM_001130089.1:c.146+305C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,12.71,\N,\N,KARS
392029,16:75677878:G>T,NM_001130089.1:c.146+303C>A,\N,\N,2/14,Unknown significance,\N,intron_variant,7.395,0.0014,1KG_AMR_AF,KARS
392030,16:75677942:A>C,NM_001130089.1:c.146+239T>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.904,0.0014,1KG_AMR_AF,KARS
392031,16:75677945:G>C,NM_001130089.1:c.146+236C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,1.462,\N,\N,KARS
392032,16:75677947:T>G,NM_001130089.1:c.146+234A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,6.069,\N,\N,KARS
392033,16:75677952:T>G,NM_001130089.1:c.146+229A>C,\N,\N,2/14,Unknown significance,\N,intron_variant,4.319,\N,\N,KARS
392034,16:75677965:TC>T,NM_001130089.1:c.146+215del,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
392035,16:75678003:G>C,NM_001130089.1:c.146+178C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,0.866,\N,\N,KARS
392036,16:75678009:C>T,NM_001130089.1:c.146+172G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,3.657,0.0014,1KG_AMR_AF,KARS
392037,16:75678061:A>G,NM_001130089.1:c.146+120T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,6.795,0.0008,1KG_AFR_AF,KARS
392038,16:75678062:G>A,NM_001130089.1:c.146+119C>T,\N,\N,2/14,Benign,\N,intron_variant,4.794,0.006,1KG_EUR_AF,KARS
392039,16:75678092:AAGACTTAGCC>A,NM_001130089.1:c.146+79_146+88del,\N,\N,2/14,Unknown significance,\N,intron_variant,22.8,\N,\N,KARS
392040,16:75678095:A>T,NM_001130089.1:c.146+86T>A,\N,\N,2/14,Unknown significance,\N,intron_variant,19.35,\N,\N,KARS
392041,16:75678098:T>TA,NM_001130089.1:c.146+82dup,\N,\N,2/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
392042,16:75678114:G>A,NM_001130089.1:c.146+67C>T,\N,\N,2/14,Benign,\N,intron_variant,16.39,0.0098,1KG_AFR_AF,KARS
392043,16:75678154:G>C,NM_001130089.1:c.146+27C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,18.95,\N,\N,KARS
392044,16:75678155:C>T,NM_001130089.1:c.146+26G>A,\N,\N,2/14,Unknown significance,\N,intron_variant,22.1,0.000234137,EXAC_SAS_AF,KARS
392045,16:75678161:A>G,NM_001130089.1:c.146+20T>C,\N,\N,2/14,Unknown significance,\N,intron_variant,20.2,0.00131406,EXAC_AMR_AF,KARS
392046,16:75678165:G>A,NM_001130089.1:c.146+16C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,22.1,0.000114811,EXAC_SAS_AF,KARS
392047,16:75678166:G>A,NM_001130089.1:c.146+15C>T,\N,\N,2/14,Unknown significance,\N,intron_variant,22.1,0.00185874,EXAC_AMR_AF,KARS
392048,16:75678171:G>C,NM_001130089.1:c.146+10C>G,\N,\N,2/14,Unknown significance,\N,intron_variant,13.59,\N,\N,KARS
392049,16:75678183:T>C,NM_001130089.1:c.144A>G,NP_001123561.1:p.Arg48=,2/15,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.96,\N,\N,KARS
392050,16:75678197:A>G,NM_001130089.1:c.130T>C,NP_001123561.1:p.Phe44Leu,2/15,\N,Likely benign,\N,missense_variant,7.285,0.000331785,EXAC_AMR_AF,KARS
392051,16:75678199:G>C,NM_001130089.1:c.128C>G,NP_001123561.1:p.Ser43Ter,2/15,\N,Unknown significance,\N,stop_gained,38,0.0000669882,EXAC_NFE_AF,KARS
392052,16:75678199:G>T,NM_001130089.1:c.128C>A,NP_001123561.1:p.Ser43Ter,2/15,\N,Unknown significance,\N,stop_gained,38,0.0000334941,EXAC_NFE_AF,KARS
392053,16:75678204:G>A,NM_001130089.1:c.123C>T,NP_001123561.1:p.Asp41=,2/15,\N,Unknown significance,\N,synonymous_variant,4.327,0.001,1KG_SAS_AF,KARS
392054,16:75678207:C>T,NM_001130089.1:c.120G>A,NP_001123561.1:p.Lys40=,2/15,\N,Unknown significance,\N,synonymous_variant,12.48,0.000100725,EXAC_SAS_AF,KARS
392055,16:75678208:T>C,NM_001130089.1:c.119A>G,NP_001123561.1:p.Lys40Arg,2/15,\N,Unknown significance,\N,missense_variant,14.69,0.000275786,EXAC_AMR_AF,KARS
392056,16:75678209:T>C,NM_001130089.1:c.118A>G,NP_001123561.1:p.Lys40Glu,2/15,\N,Unknown significance,\N,missense_variant,15.37,0.000499002,EXAC_EAS_AF,KARS
392057,16:75678214:G>A,NM_001130089.1:c.113C>T,NP_001123561.1:p.Pro38Leu,2/15,\N,Likely benign,\N,missense_variant,6.131,\N,\N,KARS
392058,16:75678216:C>T,NM_001130089.1:c.111G>A,NP_001123561.1:p.Ala37=,2/15,\N,Unknown significance,\N,synonymous_variant,14.65,0.0000847697,EXAC_NFE_AF,KARS
392059,16:75678217:G>A,NM_001130089.1:c.110C>T,NP_001123561.1:p.Ala37Val,2/15,\N,Likely benign,\N,missense_variant,12.08,0.000097144,EXAC_SAS_AF,KARS
392060,16:75678225:AG>A,NM_001130089.1:c.101del,NP_001123561.1:p.Pro34LeufsTer18,2/15,\N,Unknown significance,\N,frameshift_variant,25.5,0.0000254311,EXAC_NFE_AF,KARS
392061,16:75678229:G>A,NM_001130089.1:c.98C>T,NP_001123561.1:p.Ala33Val,2/15,\N,Unknown significance,\N,missense_variant,14.42,0.0000247463,EXAC_NFE_AF,KARS
392062,16:75678235:T>C,NM_001130089.1:c.92A>G,NP_001123561.1:p.Gln31Arg,2/15,\N,Unknown significance,\N,missense_variant,2.549,0.0000903506,EXAC_SAS_AF,KARS
392063,16:75678237:A>C,NM_001130089.1:c.90T>G,NP_001123561.1:p.Gly30=,2/15,\N,Unknown significance,\N,synonymous_variant,0.929,0.0000233035,EXAC_NFE_AF,KARS
392064,16:75678244:C>T,NM_001130089.1:c.83G>A,NP_001123561.1:p.Arg28Gln,2/15,\N,Likely benign,\N,missense_variant,20.2,0.0000435142,EXAC_NFE_AF,KARS
392065,16:75678245:G>A,NM_001130089.1:c.82C>T,NP_001123561.1:p.Arg28Ter,2/15,\N,Unknown significance,\N,stop_gained,37,\N,\N,KARS
392066,16:75678246:C>T,NM_001130089.1:c.81G>A,NP_001123561.1:p.Leu27=,2/15,\N,Unknown significance,\N,synonymous_variant,12.47,0.0000212278,EXAC_NFE_AF,KARS
392067,16:75678248:G>C,NM_001130089.1:c.79C>G,NP_001123561.1:p.Leu27Val,2/15,\N,Unknown significance,\N,missense_variant,16.93,0.000143843,EXAC_AFR_AF,KARS
392068,16:75678250:T>TC,NM_001130089.1:c.76dup,NP_001123561.1:p.Glu26GlyfsTer21,2/15,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,KARS
392069,16:75678251:C>G,NM_001130089.1:c.76G>C,NP_001123561.1:p.Glu26Gln,2/15,\N,Likely benign,\N,missense_variant,14.44,0.0000204207,EXAC_NFE_AF,KARS
392070,16:75678259:C>A,NM_001130089.1:c.68G>T,NP_001123561.1:p.Gly23Val,2/15,\N,Unknown significance,\N,missense_variant,21.1,0.000243033,EXAC_SAS_AF,KARS
392071,16:75678259:C>T,NM_001130089.1:c.68G>A,NP_001123561.1:p.Gly23Asp,2/15,\N,Unknown significance,\N,missense_variant,22.4,0.0000193881,EXAC_NFE_AF,KARS
392072,16:75678262:C>T,NM_001130089.1:c.65G>A,NP_001123561.1:p.Trp22Ter,2/15,\N,Unknown significance,\N,stop_gained,36,\N,\N,KARS
392073,16:75678263:A>G,NM_001130089.1:c.64T>C,NP_001123561.1:p.Trp22Arg,2/15,\N,Unknown significance,\N,missense_variant,9.127,0.0000190273,EXAC_NFE_AF,KARS
392074,16:75678264:C>T,NM_001130089.1:c.63G>A,NP_001123561.1:p.Glu21=,2/15,\N,Unknown significance,\N,synonymous_variant,13.23,0.0000189136,EXAC_NFE_AF,KARS
392075,16:75678266:C>A,NM_001130089.1:c.61G>T,NP_001123561.1:p.Glu21Ter,2/15,\N,Unknown significance,\N,stop_gained,35,0.0000187709,EXAC_NFE_AF,KARS
392076,16:75678271:CAGG>C,NM_001130089.1:c.53_55del,NP_001123561.1:p.Ser18del,2/15,\N,Unknown significance,\N,inframe_deletion,19.79,0.000234668,EXAC_SAS_AF,KARS
392077,16:75678274:G>A,NM_001130089.1:c.53C>T,NP_001123561.1:p.Ser18Phe,2/15,\N,Benign,\N,missense_variant,12.2,0.00637537,EXAC_SAS_AF,KARS
392078,16:75678276:G>A,NM_001130089.1:c.51C>T,NP_001123561.1:p.Thr17=,2/15,\N,Unknown significance,\N,synonymous_variant,9.444,0.001,1KG_EAS_AF,KARS
392079,16:75678277:G>T,NM_001130089.1:c.50C>A,NP_001123561.1:p.Thr17Asn,2/15,\N,Unknown significance,\N,missense_variant,16.99,0.0000776639,EXAC_SAS_AF,KARS
392080,16:75678278:T>A,NM_001130089.1:c.49A>T,NP_001123561.1:p.Thr17Ser,2/15,\N,Unknown significance,\N,missense_variant,13.58,0.00108755,EXAC_EAS_AF,KARS
392081,16:75678282:G>A,NM_001130089.1:c.45C>T,NP_001123561.1:p.Arg15=,2/15,\N,Unknown significance,\N,synonymous_variant,9.466,0.000540687,EXAC_EAS_AF,KARS
392082,16:75678283:C>T,NM_001130089.1:c.44G>A,NP_001123561.1:p.Arg15His,2/15,\N,Likely benign,\N,missense_variant,19.67,0.0008,1KG_AFR_AF,KARS
392083,16:75678284:G>A,NM_001130089.1:c.43C>T,NP_001123561.1:p.Arg15Cys,2/15,\N,Unknown significance,\N,missense_variant,24.2,0.0008,1KG_AFR_AF,KARS
392084,16:75678291:C>A,NM_001130089.1:c.36G>T,NP_001123561.1:p.Gly12=,2/15,\N,Unknown significance,\N,synonymous_variant,15.45,0.000127129,EXAC_AFR_AF,KARS
392085,16:75678299:C>G,NM_001130089.1:c.28G>C,NP_001123561.1:p.Val10Leu,2/15,\N,Likely benign,\N,missense_variant,12.77,0.0000766636,EXAC_SAS_AF,KARS
392086,16:75678299:C>T,NM_001130089.1:c.28G>A,NP_001123561.1:p.Val10Ile,2/15,\N,Likely benign,\N,missense_variant,12.47,0.0000354095,EXAC_NFE_AF,KARS
392087,16:75678300:A>G,NM_001130089.1:c.27T>C,NP_001123561.1:p.Leu9=,2/15,\N,Unknown significance,\N,synonymous_variant,1.659,0.0000176735,EXAC_NFE_AF,KARS
392088,16:75678305:T>A,NM_001130089.1:c.22A>T,NP_001123561.1:p.Arg8Trp,2/15,\N,Unknown significance,\N,missense_variant,27.4,0.000139587,EVS_EA_AF,KARS
392089,16:75678308:C>T,NM_001130089.1:c.19G>A,NP_001123561.1:p.Val7Ile,2/15,\N,Likely benign,\N,missense_variant,4.793,0.0000178718,EXAC_NFE_AF,KARS
392090,16:75678318:C>T,NM_001130089.1:c.9G>A,NP_001123561.1:p.Thr3=,2/15,\N,Unknown significance,\N,synonymous_variant,17.28,0.001,1KG_SAS_AF,KARS
392091,16:75678319:G>A,NM_001130089.1:c.8C>T,NP_001123561.1:p.Thr3Met,2/15,\N,Likely benign,\N,missense_variant,13.22,\N,\N,KARS
392092,16:75678320:T>C,NM_001130089.1:c.7A>G,NP_001123561.1:p.Thr3Ala,2/15,\N,Unknown significance,\N,missense_variant,3.029,0.0000180466,EXAC_NFE_AF,KARS
392093,16:75678321:C>A,NM_001130089.1:c.6G>T,NP_001123561.1:p.Leu2Phe,2/15,\N,Likely benign,\N,missense_variant,24.1,0.000129836,EXAC_AFR_AF,KARS
392094,16:75678321:C>T,NM_001130089.1:c.6G>A,NP_001123561.1:p.Leu2=,2/15,\N,Unknown significance,\N,synonymous_variant,12.08,0.000318878,EVS_AA_AF,KARS
392095,16:75678325:A>G,NM_001130089.1:c.2T>C,NP_001123561.1:p.Met1?,2/15,\N,Unknown significance,\N,start_lost,24.4,0.0000181931,EXAC_NFE_AF,KARS
392096,16:75678326:T>C,NM_001130089.1:c.1A>G,NP_001123561.1:p.Met1?,2/15,\N,Unknown significance,\N,start_lost,24.4,\N,\N,KARS
392097,16:75678335:A>C,NM_001130089.1:c.-9T>G,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,22,0.000757959,EXAC_SAS_AF,KARS
392098,16:75678335:A>G,NM_001130089.1:c.-9T>C,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,22.7,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,KARS
392099,16:75678338:C>G,NM_001130089.1:c.-12G>C,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,22.2,0.0000371058,EXAC_NFE_AF,KARS
392100,16:75678339:T>C,NM_001130089.1:c.-13A>G,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,21.4,0.000186088,EXAC_NFE_AF,KARS
392101,16:75678344:C>G,NM_001130089.1:c.-18G>C,\N,2/15,\N,Benign,\N,5_prime_UTR_variant,22.1,0.0118606,EXAC_FIN_AF,KARS
392102,16:75678345:TAATG>T,NM_001130089.1:c.-23_-20del,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,23.1,\N,\N,KARS
392103,16:75678347:A>C,NM_001130089.1:c.-21T>G,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,20.8,0.00315516,EXAC_FIN_AF,KARS
392104,16:75678349:G>T,NM_001130089.1:c.-23C>A,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,22.4,0.00142045,EXAC_OTH_AF,KARS
392105,16:75678349:GATT>G,NM_001130089.1:c.-26_-24del,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,21.1,0.000133797,EXAC_AFR_AF,KARS
392106,16:75678356:A>C,NM_001130089.1:c.-30T>G,\N,2/15,\N,Unknown significance,\N,5_prime_UTR_variant,22.3,0.0000191432,EXAC_NFE_AF,KARS
392107,16:75678360:C>T,NM_001130089.1:c.-34G>A,\N,2/15,\N,Unknown significance,\N,splice_region_variant&5_prime_UTR_variant,18.69,\N,\N,KARS
392108,16:75678363:A>G,NM_001130089.1:c.-34-3T>C,\N,\N,1/14,Unknown significance,\N,splice_region_variant&intron_variant,14.03,0.00013885,EXAC_AFR_AF,KARS
392109,16:75678365:C>T,NM_001130089.1:c.-34-5G>A,\N,\N,1/14,Unknown significance,\N,splice_region_variant&intron_variant,15.96,0.000139587,EVS_EA_AF,KARS
392110,16:75678366:G>A,NM_001130089.1:c.-34-6C>T,\N,\N,1/14,Unknown significance,\N,splice_region_variant&intron_variant,13.83,0.002,1KG_EUR_AF,KARS
392111,16:75678368:G>T,NM_001130089.1:c.-34-8C>A,\N,\N,1/14,Unknown significance,\N,splice_region_variant&intron_variant,13.35,0.000154321,EXAC_EAS_AF,KARS
392112,16:75678376:G>A,NM_001130089.1:c.-34-16C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,22.4,0.0000205931,EXAC_NFE_AF,KARS
392113,16:75678416:C>CA,NM_001130089.1:c.-34-57dup,\N,\N,1/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
392114,16:75678420:C>G,NM_001130089.1:c.-34-60G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,7.23,0.0014,1KG_AMR_AF,KARS
392115,16:75678454:T>A,NM_001130089.1:c.-34-94A>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.445,0.001,1KG_SAS_AF,KARS
392116,16:75678469:G>A,NM_001130089.1:c.-34-109C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,9.172,\N,\N,KARS
392117,16:75678526:T>C,NM_001130089.1:c.-34-166A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,12.92,\N,\N,KARS
392118,16:75678533:G>A,NM_001130089.1:c.-34-173C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,11.82,0.0008,1KG_AFR_AF,KARS
392119,16:75678550:T>C,NM_001130089.1:c.-34-190A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.943,\N,\N,KARS
392120,16:75678580:C>A,NM_001130089.1:c.-34-220G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,4.723,\N,\N,KARS
392121,16:75678591:C>A,NM_001130089.1:c.-34-231G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.875,\N,\N,KARS
392122,16:75678601:G>C,NM_001130089.1:c.-34-241C>G,\N,\N,1/14,Benign,\N,intron_variant,1.014,0.0079,1KG_EAS_AF,KARS
392123,16:75678618:A>C,NM_001130089.1:c.-34-258T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,1.513,\N,\N,KARS
392124,16:75678648:T>C,NM_001130089.1:c.-34-288A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,13.63,\N,\N,KARS
392125,16:75678693:T>G,NM_001130089.1:c.-34-333A>C,\N,\N,1/14,Unknown significance,\N,intron_variant,2.381,\N,\N,KARS
392126,16:75678714:C>G,NM_001130089.1:c.-34-354G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,1.182,0.001,1KG_EAS_AF,KARS
392127,16:75678721:C>G,NM_001130089.1:c.-34-361G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,2.814,\N,\N,KARS
392128,16:75678754:G>C,NM_001130089.1:c.-34-394C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,1.343,\N,\N,KARS
392129,16:75678783:G>C,NM_001130089.1:c.-34-423C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,6.144,\N,\N,KARS
392130,16:75678796:G>C,NM_001130089.1:c.-34-436C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.373,\N,\N,KARS
392131,16:75678806:C>A,NM_001130089.1:c.-34-446G>T,\N,\N,1/14,Benign,\N,intron_variant,10.22,0.0153,1KG_SAS_AF,KARS
392132,16:75678825:G>C,NM_001130089.1:c.-34-465C>G,\N,\N,1/14,Benign,\N,intron_variant,0.542,0.0159,1KG_EUR_AF,KARS
392133,16:75678834:T>C,NM_001130089.1:c.-34-474A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,2.201,\N,\N,KARS
392134,16:75678846:G>C,NM_001130089.1:c.-34-486C>G,\N,\N,1/14,Benign,\N,intron_variant,6.528,0.0098,1KG_AFR_AF,KARS
392135,16:75678853:G>A,NM_001130089.1:c.-34-493C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,10.95,\N,\N,KARS
392136,16:75678853:G>C,NM_001130089.1:c.-34-493C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,8.889,0.004,1KG_EAS_AF,KARS
392137,16:75678855:G>T,NM_001130089.1:c.-34-495C>A,\N,\N,1/14,Benign,\N,intron_variant,9.768,0.0227,1KG_AFR_AF,KARS
392138,16:75678884:A>G,NM_001130089.1:c.-34-524T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,1.295,\N,\N,KARS
392139,16:75678889:G>A,NM_001130089.1:c.-34-529C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,2.621,0.0014,1KG_AMR_AF,KARS
392140,16:75678889:G>C,NM_001130089.1:c.-34-529C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.656,\N,\N,KARS
392141,16:75678899:T>C,NM_001130089.1:c.-34-539A>G,\N,\N,1/14,Benign,\N,intron_variant,6.868,0.0238,1KG_EAS_AF,KARS
392142,16:75678915:G>C,NM_001130089.1:c.-34-555C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.69,\N,\N,KARS
392143,16:75678970:G>A,NM_001130089.1:c.-34-610C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,3.57,0.002,1KG_EAS_AF,KARS
392144,16:75678970:G>C,NM_001130089.1:c.-34-610C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.873,\N,\N,KARS
392145,16:75678984:C>T,NM_001130089.1:c.-34-624G>A,\N,\N,1/14,Benign,\N,intron_variant,6.155,1,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,KARS
392146,16:75679025:C>T,NM_001130089.1:c.-34-665G>A,\N,\N,1/14,Benign,\N,intron_variant,4.096,0.1899,1KG_AFR_AF,KARS
392147,16:75679052:T>A,NM_001130089.1:c.-34-692A>T,\N,\N,1/14,Unknown significance,\N,intron_variant,9.42,0.001,1KG_EAS_AF|1KG_SAS_AF,KARS
392148,16:75679058:A>C,NM_001130089.1:c.-34-698T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.378,0.001,1KG_EUR_AF,KARS
392149,16:75679070:C>T,NM_001130089.1:c.-34-710G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,6.249,0.0014,1KG_AMR_AF,KARS
392150,16:75679075:A>G,NM_001130089.1:c.-34-715T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,2.133,\N,\N,KARS
392151,16:75679077:C>A,NM_001130089.1:c.-34-717G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.004,0.001,1KG_EUR_AF,KARS
392152,16:75679100:T>A,NM_001130089.1:c.-34-740A>T,\N,\N,1/14,Benign,\N,intron_variant,8.001,0.0477,1KG_AFR_AF,KARS
392153,16:75679103:G>GA,NM_001130089.1:c.-34-744dup,\N,\N,1/14,Benign,\N,intron_variant,4.531,0.2028,1KG_EUR_AF,KARS
392154,16:75679122:C>T,NM_001130089.1:c.-34-762G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,4.281,0.0029,1KG_AMR_AF,KARS
392155,16:75679130:C>G,NM_001130089.1:c.-34-770G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.932,\N,\N,KARS
392156,16:75679136:G>A,NM_001130089.1:c.-34-776C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,3.244,0.0029,1KG_AMR_AF,KARS
392157,16:75679148:A>G,NM_001130089.1:c.-34-788T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.688,0.0008,1KG_AFR_AF,KARS
392158,16:75679152:C>T,NM_001130089.1:c.-34-792G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,4.562,\N,\N,KARS
392159,16:75679165:G>C,NM_001130089.1:c.-34-805C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.266,\N,\N,KARS
392160,16:75679165:G>GT,NM_001130089.1:c.-34-806dup,\N,\N,1/14,Unknown significance,\N,intron_variant,2.349,\N,\N,KARS
392161,16:75679181:A>T,NM_001130089.1:c.-34-821T>A,\N,\N,1/14,Benign,\N,intron_variant,2.767,0.2028,1KG_EUR_AF,KARS
392162,16:75679189:T>C,NM_001130089.1:c.-34-829A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,5.635,0.0008,1KG_AFR_AF,KARS
392163,16:75679198:T>C,NM_001130089.1:c.-34-838A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.23,0.0008,1KG_AFR_AF,KARS
392164,16:75679231:C>T,NM_001130089.1:c.-34-871G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,4.012,\N,\N,KARS
392165,16:75679232:G>A,NM_001130089.1:c.-34-872C>T,\N,\N,1/14,Benign,\N,intron_variant,3.376,0.0053,1KG_AFR_AF,KARS
392166,16:75679235:C>A,NM_001130089.1:c.-34-875G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,4.847,\N,\N,KARS
392167,16:75679235:C>T,NM_001130089.1:c.-34-875G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,4.98,\N,\N,KARS
392168,16:75679260:A>C,NM_001130089.1:c.-34-900T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.913,0.002,1KG_SAS_AF,KARS
392169,16:75679264:T>C,NM_001130089.1:c.-34-904A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,1.725,\N,\N,KARS
392170,16:75679269:T>C,NM_001130089.1:c.-34-909A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.399,\N,\N,KARS
392171,16:75679285:A>T,NM_001130089.1:c.-34-925T>A,\N,\N,1/14,Unknown significance,\N,intron_variant,2.723,\N,\N,KARS
392172,16:75679343:C>T,NM_001130089.1:c.-34-983G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,8.44,\N,\N,KARS
392173,16:75679367:C>T,NM_001130089.1:c.-34-1007G>A,\N,\N,1/14,Benign,\N,intron_variant,5.153,0.6935,1KG_EAS_AF,KARS
392174,16:75679370:G>C,NM_001130089.1:c.-34-1010C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.959,\N,\N,KARS
392175,16:75679385:G>T,NM_001130089.1:c.-34-1025C>A,\N,\N,1/14,Unknown significance,\N,intron_variant,9.466,\N,\N,KARS
392176,16:75679401:C>A,NM_001130089.1:c.-34-1041G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,12,\N,\N,KARS
392177,16:75679429:T>C,NM_001130089.1:c.-34-1069A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,10.81,0.001,1KG_EUR_AF,KARS
392178,16:75679454:AGT>A,NM_001130089.1:c.-34-1096_-34-1095del,\N,\N,1/14,Benign,\N,intron_variant,11.74,0.0227,1KG_AFR_AF,KARS
392179,16:75679460:T>C,NM_001130089.1:c.-34-1100A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,10.93,\N,\N,KARS
392180,16:75679469:G>C,NM_001130089.1:c.-34-1109C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,8.142,\N,\N,KARS
392181,16:75679494:T>C,NM_001130089.1:c.-34-1134A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.372,0.0014,1KG_AMR_AF,KARS
392182,16:75679498:G>A,NM_001130089.1:c.-34-1138C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,0.446,0.004,1KG_EUR_AF,KARS
392183,16:75679499:C>T,NM_001130089.1:c.-34-1139G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,2.517,0.001,1KG_SAS_AF,KARS
392184,16:75679512:A>C,NM_001130089.1:c.-34-1152T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,1.645,\N,\N,KARS
392185,16:75679516:G>C,NM_001130089.1:c.-34-1156C>G,\N,\N,1/14,Benign,\N,intron_variant,0.424,0.0092,1KG_SAS_AF,KARS
392186,16:75679519:C>T,NM_001130089.1:c.-34-1159G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.854,\N,\N,KARS
392187,16:75679545:C>T,NM_001130089.1:c.-34-1185G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,1.311,\N,\N,KARS
392188,16:75679547:C>A,NM_001130089.1:c.-34-1187G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.226,0.002,1KG_EUR_AF,KARS
392189,16:75679571:C>T,NM_001130089.1:c.-34-1211G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,2.829,0.0014,1KG_AMR_AF,KARS
392190,16:75679573:C>T,NM_001130089.1:c.-34-1213G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.2,0.002,1KG_EAS_AF,KARS
392191,16:75679574:G>A,NM_001130089.1:c.-34-1214C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,0.69,\N,\N,KARS
392192,16:75679581:C>T,NM_001130089.1:c.-34-1221G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,2.717,\N,\N,KARS
392193,16:75679602:G>A,NM_001130089.1:c.-34-1242C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,0.504,\N,\N,KARS
392194,16:75679606:G>A,NM_001130089.1:c.-34-1246C>T,\N,\N,1/14,Benign,\N,intron_variant,2.432,0.0815,1KG_EUR_AF,KARS
392195,16:75679606:G>T,NM_001130089.1:c.-34-1246C>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.836,\N,\N,KARS
392196,16:75679612:G>A,NM_001130089.1:c.-34-1252C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,1.781,0.0008,1KG_AFR_AF,KARS
392197,16:75679629:C>A,NM_001130089.1:c.-34-1269G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.102,\N,\N,KARS
392198,16:75679669:C>T,NM_001130089.1:c.-34-1309G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,1.164,0.001,1KG_EAS_AF,KARS
392199,16:75679682:T>C,NM_001130089.1:c.-34-1322A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,1.348,\N,\N,KARS
392200,16:75679686:C>T,NM_001130089.1:c.-34-1326G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,1.18,0.001,1KG_EAS_AF,KARS
392201,16:75679712:T>C,NM_001130089.1:c.-34-1352A>G,\N,\N,1/14,Benign,\N,intron_variant,1.734,0.0439,1KG_AFR_AF,KARS
392202,16:75679720:G>A,NM_001130089.1:c.-34-1360C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,2.877,0.0014,1KG_AMR_AF,KARS
392203,16:75679741:C>CAA,NM_001130089.1:c.-34-1383_-34-1382dup,\N,\N,1/14,Unknown significance,\N,intron_variant,\N,\N,\N,KARS
392204,16:75679741:CA>C,NM_001130089.1:c.-34-1382del,\N,\N,1/14,Unknown significance,\N,intron_variant,5.45,\N,\N,KARS
392205,16:75679741:CAAAA>C,NM_001130089.1:c.-34-1385_-34-1382del,\N,\N,1/14,Benign,\N,intron_variant,4.96,0.7212,1KG_EAS_AF,KARS
392206,16:75679766:T>G,NM_001130089.1:c.-34-1406A>C,\N,\N,1/14,Benign,\N,intron_variant,5.357,0.0704,1KG_EAS_AF,KARS
392207,16:75679785:C>T,NM_001130089.1:c.-34-1425G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,3.114,\N,\N,KARS
392208,16:75679801:C>T,NM_001130089.1:c.-34-1441G>A,\N,\N,1/14,Benign,\N,intron_variant,4.236,0.0567,1KG_EUR_AF,KARS
392209,16:75679828:C>T,NM_001130089.1:c.-34-1468G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,5.617,0.0023,1KG_AFR_AF,KARS
392210,16:75679838:C>T,NM_001130089.1:c.-34-1478G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,3.501,\N,\N,KARS
392211,16:75679867:C>A,NM_001130089.1:c.-34-1507G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,2.181,\N,\N,KARS
392212,16:75679887:G>C,NM_001130089.1:c.-34-1527C>G,\N,\N,1/14,Benign,\N,intron_variant,3.024,0.289,1KG_AFR_AF,KARS
392213,16:75679900:A>C,NM_001130089.1:c.-34-1540T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.158,0.0041,1KG_SAS_AF,KARS
392214,16:75679922:T>C,NM_001130089.1:c.-35+1554A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.698,\N,\N,KARS
392215,16:75679923:A>G,NM_001130089.1:c.-35+1553T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,3.68,\N,\N,KARS
392216,16:75679937:C>T,NM_001130089.1:c.-35+1539G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.023,\N,\N,KARS
392217,16:75679968:C>G,NM_001130089.1:c.-35+1508G>C,\N,\N,1/14,Benign,\N,intron_variant,2.926,0.0802,1KG_AFR_AF,KARS
392218,16:75679985:A>C,NM_001130089.1:c.-35+1491T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.221,\N,\N,KARS
392219,16:75680006:G>C,NM_001130089.1:c.-35+1470C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.845,\N,\N,KARS
392220,16:75680023:A>G,NM_001130089.1:c.-35+1453T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,4.743,0.0014,1KG_AMR_AF,KARS
392221,16:75680037:GC>G,NM_001130089.1:c.-35+1438del,\N,\N,1/14,Benign,\N,intron_variant,4.312,0.0144,1KG_AFR_AF,KARS
392222,16:75680051:C>T,NM_001130089.1:c.-35+1425G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,6.572,0.0008,1KG_AFR_AF,KARS
392223,16:75680054:T>G,NM_001130089.1:c.-35+1422A>C,\N,\N,1/14,Unknown significance,\N,intron_variant,4.772,\N,\N,KARS
392224,16:75680081:C>A,NM_001130089.1:c.-35+1395G>T,\N,\N,1/14,Benign,\N,intron_variant,1.473,0.0231,1KG_AMR_AF,KARS
392225,16:75680122:C>A,NM_001130089.1:c.-35+1354G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.53,0.001,1KG_EUR_AF,KARS
392226,16:75680137:A>G,NM_001130089.1:c.-35+1339T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.683,0.002,1KG_EAS_AF,KARS
392227,16:75680160:G>A,NM_001130089.1:c.-35+1316C>T,\N,\N,1/14,Benign,\N,intron_variant,0.006,0.0832,1KG_AFR_AF,KARS
392228,16:75680164:G>A,NM_001130089.1:c.-35+1312C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,1.97,0.001,1KG_EAS_AF,KARS
392229,16:75680179:G>A,NM_001130089.1:c.-35+1297C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,7.438,\N,\N,KARS
392230,16:75680188:C>T,NM_001130089.1:c.-35+1288G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,8.667,\N,\N,KARS
392231,16:75680216:G>A,NM_001130089.1:c.-35+1260C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.389,0.001,1KG_EAS_AF,KARS
392232,16:75680219:T>C,NM_001130089.1:c.-35+1257A>G,\N,\N,1/14,Benign,\N,intron_variant,4.369,0.0586,1KG_EUR_AF,KARS
392233,16:75680230:C>G,NM_001130089.1:c.-35+1246G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,0.011,0.002,1KG_SAS_AF,KARS
392234,16:75680239:G>C,NM_001130089.1:c.-35+1237C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.11,\N,\N,KARS
392235,16:75680272:C>G,NM_001130089.1:c.-35+1204G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.058,\N,\N,KARS
392236,16:75680300:A>G,NM_001130089.1:c.-35+1176T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,0.91,\N,\N,KARS
392237,16:75680332:G>T,NM_001130089.1:c.-35+1144C>A,\N,\N,1/14,Unknown significance,\N,intron_variant,1.929,\N,\N,KARS
392238,16:75680358:G>A,NM_001130089.1:c.-35+1118C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,2.825,\N,\N,KARS
392239,16:75680378:G>A,NM_001130089.1:c.-35+1098C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,3.704,\N,\N,KARS
392240,16:75680431:C>G,NM_001130089.1:c.-35+1045G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,2.478,0.0041,1KG_SAS_AF,KARS
392241,16:75680437:T>TA,NM_001130089.1:c.-35+1038dup,\N,\N,1/14,Unknown significance,\N,intron_variant,1.626,\N,\N,KARS
392242,16:75680447:A>T,NM_001130089.1:c.-35+1029T>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.684,\N,\N,KARS
392243,16:75680450:A>C,NM_001130089.1:c.-35+1026T>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.558,0.0008,1KG_AFR_AF,KARS
392244,16:75680452:AG>A,NM_001130089.1:c.-35+1023del,\N,\N,1/14,Unknown significance,\N,intron_variant,2.762,\N,\N,KARS
392245,16:75680459:T>C,NM_001130089.1:c.-35+1017A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,4.876,\N,\N,KARS
392246,16:75680463:T>G,NM_001130089.1:c.-35+1013A>C,\N,\N,1/14,Unknown significance,\N,intron_variant,7.883,\N,\N,KARS
392247,16:75680475:T>C,NM_001130089.1:c.-35+1001A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,7.461,\N,\N,KARS
392248,16:75680480:T>C,NM_001130089.1:c.-35+996A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,9.163,0.0008,1KG_AFR_AF,KARS
392249,16:75680495:C>T,NM_001130089.1:c.-35+981G>A,\N,\N,1/14,Benign,\N,intron_variant,10.5,0.4244,1KG_AFR_AF,KARS
392250,16:75680507:T>G,NM_001130089.1:c.-35+969A>C,\N,\N,1/14,Benign,\N,intron_variant,8.693,0.8621,1KG_EAS_AF,KARS
392251,16:75680508:C>A,NM_001130089.1:c.-35+968G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,8.601,\N,\N,KARS
392252,16:75680510:T>C,NM_001130089.1:c.-35+966A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,4.061,\N,\N,KARS
392253,16:75680513:G>A,NM_001130089.1:c.-35+963C>T,\N,\N,1/14,Benign,\N,intron_variant,4.828,0.0098,1KG_AFR_AF,KARS
392254,16:75680514:G>A,NM_001130089.1:c.-35+962C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,8.551,0.0023,1KG_AFR_AF,KARS
392255,16:75680514:G>C,NM_001130089.1:c.-35+962C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,6.08,\N,\N,KARS
392256,16:75680523:T>C,NM_001130089.1:c.-35+953A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,6.404,\N,\N,KARS
392257,16:75680557:G>C,NM_001130089.1:c.-35+919C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,9.066,0.0008,1KG_AFR_AF,KARS
392258,16:75680578:C>G,NM_001130089.1:c.-35+898G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,8.242,0.0008,1KG_AFR_AF,KARS
392259,16:75680605:C>A,NM_001130089.1:c.-35+871G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.733,0.0014,1KG_AMR_AF,KARS
392260,16:75680607:C>T,NM_001130089.1:c.-35+869G>A,\N,\N,1/14,Benign,\N,intron_variant,6.558,0.0298,1KG_EUR_AF,KARS
392261,16:75680696:C>A,NM_001130089.1:c.-35+780G>T,\N,\N,1/14,Benign,\N,intron_variant,8.5,0.0079,1KG_EAS_AF,KARS
392262,16:75680728:A>G,NM_001130089.1:c.-35+748T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,9.22,\N,\N,KARS
392263,16:75680746:C>T,NM_001130089.1:c.-35+730G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,8.931,\N,\N,KARS
392264,16:75680758:G>A,NM_001130089.1:c.-35+718C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,8.179,0.001,1KG_EAS_AF,KARS
392265,16:75680791:C>T,NM_001130089.1:c.-35+685G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,2.82,0.0045,1KG_AFR_AF,KARS
392266,16:75680794:A>G,NM_001130089.1:c.-35+682T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,3.372,\N,\N,KARS
392267,16:75680795:T>C,NM_001130089.1:c.-35+681A>G,\N,\N,1/14,Benign,\N,intron_variant,3.073,0.2897,1KG_AFR_AF,KARS
392268,16:75680807:A>G,NM_001130089.1:c.-35+669T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.933,\N,\N,KARS
392269,16:75680823:G>C,NM_001130089.1:c.-35+653C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.57,\N,\N,KARS
392270,16:75680834:G>T,NM_001130089.1:c.-35+642C>A,\N,\N,1/14,Benign,\N,intron_variant,0.842,0.0092,1KG_SAS_AF,KARS
392271,16:75680857:T>C,NM_001130089.1:c.-35+619A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,5.384,0.001,1KG_EAS_AF,KARS
392272,16:75680966:C>T,NM_001130089.1:c.-35+510G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,0.256,0.0008,1KG_AFR_AF,KARS
392273,16:75680974:C>T,NM_001130089.1:c.-35+502G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,7.953,0.0015,1KG_AFR_AF,KARS
392274,16:75680983:G>A,NM_001130089.1:c.-35+493C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.699,0.0008,1KG_AFR_AF,KARS
392275,16:75680995:C>G,NM_001130089.1:c.-35+481G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,7.879,\N,\N,KARS
392276,16:75681003:G>A,NM_001130089.1:c.-35+473C>T,\N,\N,1/14,Benign,\N,intron_variant,9.048,0.0113,1KG_AFR_AF,KARS
392277,16:75681010:T>A,NM_001130089.1:c.-35+466A>T,\N,\N,1/14,Unknown significance,\N,intron_variant,9.653,0.0014,1KG_AMR_AF,KARS
392278,16:75681048:G>C,NM_001130089.1:c.-35+428C>G,\N,\N,1/14,Benign,\N,intron_variant,4.671,0.0113,1KG_AFR_AF,KARS
392279,16:75681067:G>A,NM_001130089.1:c.-35+409C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,9.582,\N,\N,KARS
392280,16:75681075:G>C,NM_001130089.1:c.-35+401C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,4.586,0.001,1KG_SAS_AF,KARS
392281,16:75681082:T>C,NM_001130089.1:c.-35+394A>G,\N,\N,1/14,Benign,\N,intron_variant,2.36,0.0139,1KG_EAS_AF,KARS
392282,16:75681129:A>G,NM_001130089.1:c.-35+347T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.992,\N,\N,KARS
392283,16:75681132:A>G,NM_001130089.1:c.-35+344T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.268,\N,\N,KARS
392284,16:75681139:G>A,NM_001130089.1:c.-35+337C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.264,0.0014,1KG_AMR_AF,KARS
392285,16:75681142:T>C,NM_001130089.1:c.-35+334A>G,\N,\N,1/14,Benign,\N,intron_variant,1.923,0.2526,1KG_AFR_AF,KARS
392286,16:75681163:G>C,NM_001130089.1:c.-35+313C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,0.398,\N,\N,KARS
392287,16:75681171:G>A,NM_001130089.1:c.-35+305C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,1.086,0.002,1KG_EUR_AF,KARS
392288,16:75681203:A>T,NM_001130089.1:c.-35+273T>A,\N,\N,1/14,Unknown significance,\N,intron_variant,4.645,0.002,1KG_SAS_AF,KARS
392289,16:75681207:C>G,NM_001130089.1:c.-35+269G>C,\N,\N,1/14,Benign,\N,intron_variant,5.844,0.0363,1KG_AFR_AF,KARS
392290,16:75681260:C>T,NM_001130089.1:c.-35+216G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,8.141,\N,\N,KARS
392291,16:75681268:C>T,NM_001130089.1:c.-35+208G>A,\N,\N,1/14,Benign,\N,intron_variant,9.251,0.1599,1KG_AMR_AF,KARS
392292,16:75681288:G>A,NM_001130089.1:c.-35+188C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,3.486,0.0015,1KG_AFR_AF,KARS
392293,16:75681316:T>C,NM_001130089.1:c.-35+160A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,6.908,0.001,1KG_EUR_AF,KARS
392294,16:75681329:G>C,NM_001130089.1:c.-35+147C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,4.208,0.001,1KG_SAS_AF,KARS
392295,16:75681333:G>A,NM_001130089.1:c.-35+143C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,5.084,0.0014,1KG_AMR_AF,KARS
392296,16:75681351:C>T,NM_001130089.1:c.-35+125G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,10.02,\N,\N,KARS
392297,16:75681357:C>A,NM_001130089.1:c.-35+119G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,10.94,0.0023,1KG_AFR_AF,KARS
392298,16:75681368:G>A,NM_001130089.1:c.-35+108C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,6.247,0.002,1KG_EAS_AF,KARS
392299,16:75681368:G>C,NM_001130089.1:c.-35+108C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,3.205,\N,\N,KARS
392300,16:75681373:G>C,NM_001130089.1:c.-35+103C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,5.757,0.0008,1KG_AFR_AF,KARS
392301,16:75681374:G>A,NM_001130089.1:c.-35+102C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,7.95,\N,\N,KARS
392302,16:75681377:A>G,NM_001130089.1:c.-35+99T>C,\N,\N,1/14,Unknown significance,\N,intron_variant,5.079,\N,\N,KARS
392303,16:75681389:C>A,NM_001130089.1:c.-35+87G>T,\N,\N,1/14,Unknown significance,\N,intron_variant,8.458,0.0029,1KG_AMR_AF,KARS
392304,16:75681420:T>C,NM_001130089.1:c.-35+56A>G,\N,\N,1/14,Benign,\N,intron_variant,7.729,0.0169705,EVS_EA_AF,KARS
392305,16:75681427:C>T,NM_001130089.1:c.-35+49G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,10.05,0.0000191703,EXAC_NFE_AF,KARS
392306,16:75681432:A>T,NM_001130089.1:c.-35+44T>A,\N,\N,1/14,Unknown significance,\N,intron_variant,1.216,0.0000722961,EXAC_SAS_AF,KARS
392307,16:75681437:C>T,NM_001130089.1:c.-35+39G>A,\N,\N,1/14,Unknown significance,\N,intron_variant,8.797,0.000116333,EVS_EA_AF,KARS
392308,16:75681443:G>T,NM_001130089.1:c.-35+33C>A,\N,\N,1/14,Unknown significance,\N,intron_variant,10.42,0.001,1KG_EUR_AF,KARS
392309,16:75681449:G>A,NM_001130089.1:c.-35+27C>T,\N,\N,1/14,Unknown significance,\N,intron_variant,11.6,\N,\N,KARS
392310,16:75681450:C>G,NM_001130089.1:c.-35+26G>C,\N,\N,1/14,Unknown significance,\N,intron_variant,12.56,0.000071286,EXAC_SAS_AF,KARS
392311,16:75681453:T>C,NM_001130089.1:c.-35+23A>G,\N,\N,1/14,Unknown significance,\N,intron_variant,10.65,0.0000554918,EXAC_NFE_AF,KARS
392312,16:75681454:A>AG,NM_001130089.1:c.-35+21_-35+22insC,\N,\N,1/14,Unknown significance,\N,intron_variant,8.468,0.0000184665,EXAC_NFE_AF,KARS
392313,16:75681457:G>C,NM_001130089.1:c.-35+19C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,8.096,0.000824742,EXAC_AMR_AF,KARS
392314,16:75681465:G>C,NM_001130089.1:c.-35+11C>G,\N,\N,1/14,Unknown significance,\N,intron_variant,6.13,\N,\N,KARS
392315,16:75681472:T>C,NM_001130089.1:c.-35+4A>G,\N,\N,1/14,Unknown significance,\N,splice_region_variant&intron_variant,9.282,0.0014,1KG_AMR_AF,KARS
392316,16:75681484:C>G,NM_005548.2:c.54G>C,NP_005539.1:p.Leu18=,1/14,\N,Unknown significance,\N,synonymous_variant,15.23,0.000116306,EVS_EA_AF,KARS
392317,16:75681490:C>T,NM_005548.2:c.48G>A,NP_005539.1:p.Pro16=,1/14,\N,Unknown significance,\N,synonymous_variant,15.22,0.0000659979,EXAC_SAS_AF,KARS
392318,16:75681491:G>A,NM_005548.2:c.47C>T,NP_005539.1:p.Pro16Leu,1/14,\N,Likely benign,\N,missense_variant,14.64,0.0000169572,EXAC_NFE_AF,KARS
392319,16:75681491:G>C,NM_005548.2:c.47C>G,NP_005539.1:p.Pro16Arg,1/14,\N,Likely benign,\N,missense_variant,12.78,0.000233809,EXAC_AFR_AF,KARS
392320,16:75681503:T>C,NM_005548.2:c.35A>G,NP_005539.1:p.Asp12Gly,1/14,\N,Likely benign,\N,missense_variant,12.28,0.000122249,EXAC_EAS_AF,KARS
392321,16:75681504:C>G,NM_005548.2:c.34G>C,NP_005539.1:p.Asp12His,1/14,\N,Unknown significance,\N,missense_variant,9.861,0.0000642178,EXAC_SAS_AF,KARS
392322,16:75681507:C>T,NM_005548.2:c.31G>A,NP_005539.1:p.Val11Met,1/14,\N,Likely benign,\N,missense_variant,10.85,0.000116333,EVS_EA_AF,KARS
392323,16:75681510:T>C,NM_005548.2:c.28A>G,NP_005539.1:p.Lys10Glu,1/14,\N,Likely benign,\N,missense_variant,6.581,0.0000827513,EXAC_NFE_AF,KARS
392324,16:75681513:C>T,NM_005548.2:c.25G>A,NP_005539.1:p.Val9Met,1/14,\N,Likely benign,\N,missense_variant,9.746,0.0000638488,EXAC_SAS_AF,KARS
392325,16:75681518:G>A,NM_005548.2:c.20C>T,NP_005539.1:p.Ala7Val,1/14,\N,Likely benign,\N,missense_variant,8.002,0.0000913576,EXAC_AMR_AF,KARS
392326,16:75681520:C>A,NM_005548.2:c.18G>T,NP_005539.1:p.Ala6=,1/14,\N,Unknown significance,\N,synonymous_variant,11.15,0.000190452,EXAC_SAS_AF,KARS
392327,16:75681520:C>T,NM_005548.2:c.18G>A,NP_005539.1:p.Ala6=,1/14,\N,Unknown significance,\N,synonymous_variant,11.02,0.000112689,EXAC_AFR_AF,KARS
392328,16:75681521:G>A,NM_005548.2:c.17C>T,NP_005539.1:p.Ala6Val,1/14,\N,Likely benign,\N,missense_variant,6.327,0.0000163806,EXAC_NFE_AF,KARS
392329,16:75681524:T>C,NM_005548.2:c.14A>G,NP_005539.1:p.Gln5Arg,1/14,\N,Likely benign,\N,missense_variant,6.283,0.000121065,EXAC_EAS_AF,KARS
392330,16:75681529:G>A,NM_005548.2:c.9C>T,NP_005539.1:p.Ala3=,1/14,\N,Unknown significance,\N,synonymous_variant,8.349,0.000126406,EXAC_SAS_AF,KARS
392331,16:75681532:C>T,NM_005548.2:c.6G>A,NP_005539.1:p.Ala2=,1/14,\N,Unknown significance,\N,synonymous_variant,8.457,0.0000485594,EXAC_NFE_AF,KARS
392332,16:75681533:G>A,NM_005548.2:c.5C>T,NP_005539.1:p.Ala2Val,1/14,\N,Unknown significance,\N,missense_variant,12.81,0.0000909422,EXAC_AMR_AF,KARS
392333,16:75681533:G>T,NM_005548.2:c.5C>A,NP_005539.1:p.Ala2Glu,1/14,\N,Unknown significance,\N,missense_variant,12.08,0.0000161896,EXAC_NFE_AF,KARS
392334,16:75681537:T>C,NM_005548.2:c.1A>G,NP_005539.1:p.Met1?,1/14,\N,Unknown significance,\N,start_lost,12.89,0.0014,1KG_AMR_AF,KARS
392335,16:75681538:C>A,NM_001130089.1:c.-97G>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,11.84,0.000636943,EXAC_AMR_AF,KARS
392336,16:75681539:T>C,NM_001130089.1:c.-98A>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.857,0.00011636,EVS_EA_AF,KARS
392337,16:75681539:T>G,NM_001130089.1:c.-98A>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.016,0.000120656,EXAC_EAS_AF,KARS
392338,16:75681543:C>G,NM_001130089.1:c.-102G>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.861,\N,\N,KARS
392339,16:75681547:G>A,NM_001130089.1:c.-106C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.226,0.00124378,EXAC_OTH_AF,KARS
392340,16:75681548:G>A,NM_001130089.1:c.-107C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,8.581,0.003,1KG_EAS_AF,KARS
392341,16:75681549:G>A,NM_001130089.1:c.-108C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,8.37,0.000486736,EXAC_EAS_AF,KARS
392342,16:75681550:C>A,NM_001130089.1:c.-109G>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,10.63,0.00011636,EVS_EA_AF,KARS
392343,16:75681550:C>T,NM_001130089.1:c.-109G>A,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,10.47,0.00018305,EXAC_AMR_AF,KARS
392344,16:75681552:C>G,NM_001130089.1:c.-111G>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.135,0.00011636,EVS_EA_AF,KARS
392345,16:75681553:G>A,NM_001130089.1:c.-112C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.622,0.00012216,EXAC_EAS_AF,KARS
392346,16:75681553:G>C,NM_001130089.1:c.-112C>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.818,0.000091659,EXAC_AMR_AF,KARS
392347,16:75681554:A>G,NM_001130089.1:c.-113T>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,11.79,0.000122309,EXAC_EAS_AF,KARS
392348,16:75681556:C>G,NM_001130089.1:c.-115G>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.826,0.000223115,EXAC_AFR_AF,KARS
392349,16:75681558:A>C,NM_001130089.1:c.-117T>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,4.74,0.001,1KG_SAS_AF,KARS
392350,16:75681559:A>G,NM_001130089.1:c.-118T>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,6.508,0.0000326851,EXAC_NFE_AF,KARS
392351,16:75681559:AAAGT>A,NM_001130089.1:c.-122_-119del,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,8.762,0.000111607,EXAC_AFR_AF,KARS
392352,16:75681562:G>A,NM_001130089.1:c.-121C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,9.2,0.000369185,EXAC_EAS_AF,KARS
392353,16:75681564:A>C,NM_001130089.1:c.-123T>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,5.05,0.0000921319,EXAC_AMR_AF,KARS
392354,16:75681566:G>A,NM_001130089.1:c.-125C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.452,0.0000637999,EXAC_SAS_AF,KARS
392355,16:75681568:A>G,NM_001130089.1:c.-127T>C,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.299,0.0000164566,EXAC_NFE_AF,KARS
392356,16:75681569:G>A,NM_001130089.1:c.-128C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.615,0.000185048,EXAC_AMR_AF,KARS
392357,16:75681570:G>A,NM_001130089.1:c.-129C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.118,0.0000638978,EXAC_SAS_AF,KARS
392358,16:75681572:T>C,NM_001130089.1:c.-131A>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,6.05,0.0000165404,EXAC_NFE_AF,KARS
392359,16:75681574:G>A,NM_001130089.1:c.-133C>T,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,6.748,0.0000927816,EXAC_AMR_AF,KARS
392360,16:75681581:A>T,NM_001130089.1:c.-140T>A,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,8.052,0.0000935104,EXAC_AMR_AF,KARS
392361,16:75681583:T>C,NM_001130089.1:c.-142A>G,\N,1/15,\N,Unknown significance,\N,5_prime_UTR_variant,7.878,0.0000336462,EXAC_NFE_AF,KAR