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
718081,6:43484788:A>C,NM_203290.2:c.-60A>C,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,6.909,\N,\N,POLR1C
718082,6:43484790:C>T,NM_203290.2:c.-58C>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,7.562,0.000314268,EVS_EA_AF,POLR1C
718083,6:43484797:A>G,NM_203290.2:c.-51A>G,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,6.451,0.000346661,EXAC_EAS_AF,POLR1C
718084,6:43484801:G>C,NM_203290.2:c.-47G>C,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,7.138,0.00110132,EXAC_OTH_AF,POLR1C
718085,6:43484804:C>T,NM_203290.2:c.-44C>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,12.03,0.0000149858,EXAC_NFE_AF,POLR1C
718086,6:43484815:G>A,NM_203290.2:c.-33G>A,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,8.289,0.000116279,EVS_EA_AF,POLR1C
718087,6:43484819:G>A,NM_203290.2:c.-29G>A,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,7.933,0.000115554,EXAC_EAS_AF,POLR1C
718088,6:43484820:A>G,NM_203290.2:c.-28A>G,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,6.18,0.0000149853,EXAC_NFE_AF,POLR1C
718089,6:43484820:AACCTC>A,NM_203290.2:c.-27_-23del,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,9.664,0.000462214,EXAC_EAS_AF,POLR1C
718090,6:43484821:A>C,NM_203290.2:c.-27A>C,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,3.758,\N,\N,POLR1C
718091,6:43484825:C>T,NM_203290.2:c.-23C>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,9.051,0.000116279,EVS_EA_AF,POLR1C
718092,6:43484826:T>A,NM_203290.2:c.-22T>A,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,9.517,0.0008,1KG_AFR_AF,POLR1C
718093,6:43484826:T>C,NM_203290.2:c.-22T>C,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,7.534,0.0000863856,EXAC_AMR_AF,POLR1C
718094,6:43484827:A>G,NM_203290.2:c.-21A>G,\N,1/9,\N,Benign,\N,5_prime_UTR_variant,6.223,0.00508435,EXAC_EAS_AF,POLR1C
718095,6:43484827:A>T,NM_203290.2:c.-21A>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,5.691,0.000346661,EXAC_EAS_AF,POLR1C
718096,6:43484830:C>T,NM_203290.2:c.-18C>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,9.507,0.0000149849,EXAC_NFE_AF,POLR1C
718097,6:43484833:G>A,NM_203290.2:c.-15G>A,\N,1/9,\N,Benign,\N,5_prime_UTR_variant,8.941,0.059,1KG_AFR_AF,POLR1C
718098,6:43484834:T>C,NM_203290.2:c.-14T>C,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,5.224,0.000116279,EVS_EA_AF,POLR1C
718099,6:43484840:G>A,NM_203290.2:c.-8G>A,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,7.384,0.00181571,EVS_AA_AF,POLR1C
718100,6:43484840:G>T,NM_203290.2:c.-8G>T,\N,1/9,\N,Unknown significance,\N,5_prime_UTR_variant,6.241,0.0000149844,EXAC_NFE_AF,POLR1C
718101,6:43484844:G>A,NM_203290.2:c.-4G>A,\N,1/9,\N,Benign,\N,5_prime_UTR_variant,10.98,0.0101,1KG_AMR_AF,POLR1C
718102,6:43484852:C>T,NM_203290.2:c.5C>T,NP_976035.1:p.Ala2Val,1/9,\N,Unknown significance,\N,missense_variant,22.4,0.000121124,EXAC_SAS_AF,POLR1C
718103,6:43484853:G>A,NM_203290.2:c.6G>A,NP_976035.1:p.Ala2=,1/9,\N,Unknown significance,\N,synonymous_variant,12.71,0.000231107,EXAC_EAS_AF,POLR1C
718104,6:43484855:C>A,NM_203290.2:c.8C>A,NP_976035.1:p.Ala3Asp,1/9,\N,Unknown significance,\N,missense_variant,23.2,0.000060562,EXAC_SAS_AF,POLR1C
718105,6:43484855:C>T,NM_001318876.1:c.8C>T,NP_001305805.1:p.Ala3Val,1/9,\N,Benign,\N,missense_variant,18.42,0.0057659,EXAC_AFR_AF,POLR1C
718106,6:43484856:T>C,NM_203290.2:c.9T>C,NP_976035.1:p.Ala3=,1/9,\N,Unknown significance,\N,synonymous_variant,0.558,0.0000149844,EXAC_NFE_AF,POLR1C
718107,6:43484856:T>G,NM_203290.2:c.9T>G,NP_976035.1:p.Ala3=,1/9,\N,Unknown significance,\N,synonymous_variant,5.511,0.0000149844,EXAC_NFE_AF,POLR1C
718108,6:43484857:T>C,NM_203290.2:c.10T>C,NP_976035.1:p.Ser4Pro,1/9,\N,Likely benign,\N,missense_variant,0.034,0.0000863856,EXAC_AMR_AF,POLR1C
718109,6:43484858:C>T,NM_203290.2:c.11C>T,NP_976035.1:p.Ser4Phe,1/9,\N,Likely benign,\N,missense_variant,21,0.000384394,EXAC_AFR_AF,POLR1C
718110,6:43484859:T>G,NM_203290.2:c.12T>G,NP_976035.1:p.Ser4=,1/9,\N,Unknown significance,\N,synonymous_variant,3.074,0.0000960984,EXAC_AFR_AF,POLR1C
718111,6:43484861:A>C,NM_203290.2:c.14A>C,NP_976035.1:p.Gln5Pro,1/9,\N,Likely benign,\N,missense_variant,0.169,0.0000149849,EXAC_NFE_AF,POLR1C
718112,6:43484861:A>G,NM_203290.2:c.14A>G,NP_976035.1:p.Gln5Arg,1/9,\N,Likely benign,\N,missense_variant,0.028,0.0000149849,EXAC_NFE_AF,POLR1C
718113,6:43484864:C>A,NM_203290.2:c.17C>A,NP_976035.1:p.Ala6Glu,1/9,\N,Likely benign,\N,missense_variant,16.48,0.000172771,EXAC_AMR_AF,POLR1C
718114,6:43484866:G>A,NM_203290.2:c.19G>A,NP_976035.1:p.Val7Met,1/9,\N,Unknown significance,\N,missense_variant,14.53,0.0000863856,EXAC_AMR_AF,POLR1C
718115,6:43484869:G>A,NM_203290.2:c.22G>A,NP_976035.1:p.Glu8Lys,1/9,\N,Likely benign,\N,missense_variant,18.26,0.001,1KG_EAS_AF,POLR1C
718116,6:43484870:A>G,NM_203290.2:c.23A>G,NP_976035.1:p.Glu8Gly,1/9,\N,Benign,\N,missense_variant,23.5,0.00578784,EXAC_AMR_AF,POLR1C
718117,6:43484876:T>G,NM_203290.2:c.29T>G,NP_976035.1:p.Met10Arg,1/9,\N,Unknown significance,\N,missense_variant,12.27,\N,\N,POLR1C
718118,6:43484879:G>A,NM_001318876.1:c.32G>A,NP_001305805.1:p.Arg11Gln,1/9,\N,Unknown significance,\N,missense_variant,25.7,0.000121124,EXAC_SAS_AF,POLR1C
718119,6:43484880:G>A,NM_203290.2:c.33G>A,NP_976035.1:p.Arg11=,1/9,\N,Unknown significance,\N,synonymous_variant,9.668,0.000115554,EXAC_EAS_AF,POLR1C
718120,6:43484881:A>G,NM_203290.2:c.34A>G,NP_976035.1:p.Ser12Gly,1/9,\N,Likely benign,\N,missense_variant,7.589,0.0014,1KG_AMR_AF,POLR1C
718121,6:43484883:C>T,NM_203290.2:c.36C>T,NP_976035.1:p.Ser12=,1/9,\N,Unknown significance,\N,synonymous_variant,13.42,0.0015,1KG_AFR_AF,POLR1C
718122,6:43484884:C>T,NM_203290.2:c.37C>T,NP_976035.1:p.Arg13Cys,1/9,\N,Unknown significance,\N,missense_variant,34,0.002,1KG_EUR_AF,POLR1C
718123,6:43484886:C>G,NM_203290.2:c.39C>G,NP_976035.1:p.Arg13=,1/9,\N,Unknown significance,\N,synonymous_variant,18.51,\N,\N,POLR1C
718124,6:43484890:G>C,NM_203290.2:c.43G>C,NP_976035.1:p.Val15Leu,1/9,\N,Unknown significance,\N,missense_variant,10.57,0.000231107,EXAC_EAS_AF,POLR1C
718125,6:43484890:G>T,NM_203290.2:c.43G>T,NP_976035.1:p.Val15Phe,1/9,\N,Unknown significance,\N,missense_variant,12.07,0.000060562,EXAC_SAS_AF,POLR1C
718126,6:43484897:G>A,NM_203290.2:c.50G>A,NP_976035.1:p.Gly17Glu,1/9,\N,Unknown significance,\N,missense_variant,10.25,0.0000149844,EXAC_NFE_AF,POLR1C
718127,6:43484901:G>A,NM_203290.2:c.54G>A,NP_976035.1:p.Glu18=,1/9,\N,Unknown significance,\N,synonymous_variant,5.789,0.000121124,EXAC_SAS_AF,POLR1C
718128,6:43484907:G>C,NM_203290.2:c.60G>C,NP_976035.1:p.Gly20=,1/9,\N,Unknown significance,\N,synonymous_variant,1.182,\N,\N,POLR1C
718129,6:43484908:G>A,NM_203290.2:c.61G>A,NP_976035.1:p.Val21Ile,1/9,\N,Unknown significance,\N,missense_variant,12.24,0.001,1KG_SAS_AF,POLR1C
718130,6:43484911:C>G,NM_203290.2:c.64C>G,NP_976035.1:p.Arg22Gly,1/9,\N,Likely benign,\N,missense_variant,15.51,0.000192197,EXAC_AFR_AF,POLR1C
718131,6:43484912:G>A,NM_203290.2:c.65G>A,NP_976035.1:p.Arg22His,1/9,\N,Unknown significance,\N,missense_variant,22.8,0.000697674,EVS_EA_AF,POLR1C
718132,6:43484915:A>G,NM_203290.2:c.68A>G,NP_976035.1:p.Asn23Ser,1/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,21.9,0.000115554,EXAC_EAS_AF,POLR1C
718133,6:43484921:G>A,NM_203290.2:c.69+5G>A,\N,\N,1/8,Unknown significance,\N,splice_region_variant&intron_variant,14.44,0.000907167,EXAC_FIN_AF,POLR1C
718134,6:43484924:T>C,NM_203290.2:c.69+8T>C,\N,\N,1/8,Unknown significance,\N,splice_region_variant&intron_variant,6.667,0.0000149844,EXAC_NFE_AF,POLR1C
718135,6:43484937:C>T,NM_203290.2:c.69+21C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,12.72,0.000226963,EVS_AA_AF,POLR1C
718136,6:43484939:C>T,NM_203290.2:c.69+23C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,13.67,0.000115554,EXAC_EAS_AF,POLR1C
718137,6:43484943:C>A,NM_203290.2:c.69+27C>A,\N,\N,1/8,Unknown significance,\N,intron_variant,13.67,0.00127109,EXAC_EAS_AF,POLR1C
718138,6:43484943:C>T,NM_203290.2:c.69+27C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,13.59,0.000060562,EXAC_SAS_AF,POLR1C
718139,6:43484944:G>A,NM_203290.2:c.69+28G>A,\N,\N,1/8,Unknown significance,\N,intron_variant,12.69,0.000014984,EXAC_NFE_AF,POLR1C
718140,6:43484946:G>C,NM_203290.2:c.69+30G>C,\N,\N,1/8,Unknown significance,\N,intron_variant,11.43,0.000060562,EXAC_SAS_AF,POLR1C
718141,6:43484950:A>G,NM_203290.2:c.69+34A>G,\N,\N,1/8,Unknown significance,\N,intron_variant,12.58,0.000060562,EXAC_SAS_AF,POLR1C
718142,6:43484955:G>C,NM_203290.2:c.69+39G>C,\N,\N,1/8,Unknown significance,\N,intron_variant,12.35,0.000768787,EXAC_AFR_AF,POLR1C
718143,6:43484966:G>A,NM_203290.2:c.69+50G>A,\N,\N,1/8,Unknown significance,\N,intron_variant,13.42,0.001,1KG_EAS_AF,POLR1C
718144,6:43484989:G>A,NM_203290.2:c.70-55G>A,\N,\N,1/8,Unknown significance,\N,intron_variant,7.59,0.0015,1KG_AFR_AF,POLR1C
718145,6:43484993:T>C,NM_203290.2:c.70-51T>C,\N,\N,1/8,Unknown significance,\N,intron_variant,5.399,0.000116279,EVS_EA_AF,POLR1C
718146,6:43485006:A>G,NM_203290.2:c.70-38A>G,\N,\N,1/8,Unknown significance,\N,intron_variant,5.545,0.0000149835,EXAC_NFE_AF,POLR1C
718147,6:43485008:T>A,NM_203290.2:c.70-36T>A,\N,\N,1/8,Unknown significance,\N,intron_variant,10.05,0.0000960984,EXAC_AFR_AF,POLR1C
718148,6:43485009:G>C,NM_203290.2:c.70-35G>C,\N,\N,1/8,Unknown significance,\N,intron_variant,6.047,0.0000960984,EXAC_AFR_AF,POLR1C
718149,6:43485011:C>T,NM_203290.2:c.70-33C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,7.974,0.0000863707,EXAC_AMR_AF,POLR1C
718150,6:43485012:C>T,NM_203290.2:c.70-32C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,8.086,0.000226963,EVS_AA_AF,POLR1C
718151,6:43485019:G>A,NM_203290.2:c.70-25G>A,\N,\N,1/8,Unknown significance,\N,intron_variant,7.417,0.0000149835,EXAC_NFE_AF,POLR1C
718152,6:43485032:C>T,NM_203290.2:c.70-12C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,9.942,0.0000449506,EXAC_NFE_AF,POLR1C
718153,6:43485033:C>T,NM_203290.2:c.70-11C>T,\N,\N,1/8,Unknown significance,\N,intron_variant,10.74,0.000226963,EVS_AA_AF,POLR1C
718154,6:43485038:C>T,NM_203290.2:c.70-6C>T,\N,\N,1/8,Unknown significance,\N,splice_region_variant&intron_variant,12.93,0.0015,1KG_AFR_AF,POLR1C
718155,6:43485039:T>C,NM_203290.2:c.70-5T>C,\N,\N,1/8,Unknown significance,\N,splice_region_variant&intron_variant,9.96,0.0000149835,EXAC_NFE_AF,POLR1C
718156,6:43485040:C>T,NM_203290.2:c.70-4C>T,\N,\N,1/8,Unknown significance,\N,splice_region_variant&intron_variant,13.9,0.0000149835,EXAC_NFE_AF,POLR1C
718157,6:43485046:C>T,NM_203290.2:c.72C>T,NP_976035.1:p.Val24=,2/9,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.13,0.0000149835,EXAC_NFE_AF,POLR1C
718158,6:43485051:C>T,NM_203290.2:c.77C>T,NP_976035.1:p.Thr26Ile,2/9,\N,Pathogenic,Leukodystrophy| hypomyelinating| 11; LEUKODYSTROPHY| HYPOMYELINATING| 11,missense_variant,24.8,\N,\N,POLR1C
718159,6:43485052:T>A,NM_203290.2:c.78T>A,NP_976035.1:p.Thr26=,2/9,\N,Unknown significance,\N,synonymous_variant,14.1,0.0000149835,EXAC_NFE_AF,POLR1C
718160,6:43485053:A>G,NM_203290.2:c.79A>G,NP_976035.1:p.Thr27Ala,2/9,\N,Unknown significance,\N,missense_variant,23.2,0.000116279,EVS_EA_AF,POLR1C
718161,6:43485055:TG>T,NM_203290.2:c.82del,NP_976035.1:p.Asp28ThrfsTer26,2/9,\N,Unknown significance,\N,frameshift_variant,35,0.0000149835,EXAC_NFE_AF,POLR1C
718162,6:43485058:C>T,NM_203290.2:c.84C>T,NP_976035.1:p.Asp28=,2/9,\N,Unknown significance,\N,synonymous_variant,14.02,0.000060562,EXAC_SAS_AF,POLR1C
718163,6:43485058:CT>C,NM_203290.2:c.87del,NP_976035.1:p.Gly31ValfsTer23,2/9,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,POLR1C
718164,6:43485065:G>A,NM_001318876.1:c.91G>A,NP_001305805.1:p.Gly31Ser,2/9,\N,Unknown significance,\N,missense_variant,26.2,0.000115554,EXAC_EAS_AF,POLR1C
718165,6:43485069:A>T,NM_203290.2:c.95A>T,NP_976035.1:p.Asn32Ile,2/9,\N,Pathogenic,Leukodystrophy| hypomyelinating| 11; LEUKODYSTROPHY| HYPOMYELINATING| 11,missense_variant,23,\N,\N,POLR1C
718166,6:43485070:C>T,NM_203290.2:c.96C>T,NP_976035.1:p.Asn32=,2/9,\N,Unknown significance,\N,synonymous_variant,14.79,0.0000149835,EXAC_NFE_AF,POLR1C
718167,6:43485072:A>G,NM_203290.2:c.98A>G,NP_976035.1:p.Tyr33Cys,2/9,\N,Unknown significance,\N,missense_variant,27.3,0.0008,1KG_AFR_AF,POLR1C
718168,6:43485081:A>T,NM_203290.2:c.107A>T,NP_976035.1:p.Tyr36Phe,2/9,\N,Unknown significance,\N,missense_variant,10.9,0.0000149835,EXAC_NFE_AF,POLR1C
718169,6:43485085:T>C,NM_203290.2:c.111T>C,NP_976035.1:p.Asp37=,2/9,\N,Unknown significance,\N,synonymous_variant,6.489,0.000060562,EXAC_SAS_AF,POLR1C
718170,6:43485090:C>T,NM_203290.2:c.116C>T,NP_976035.1:p.Ala39Val,2/9,\N,Unknown significance,\N,missense_variant,23.3,0.000813953,EVS_EA_AF,POLR1C
718171,6:43485091:C>T,NM_203290.2:c.117C>T,NP_976035.1:p.Ala39=,2/9,\N,Unknown significance,\N,synonymous_variant,17.56,0.0000149835,EXAC_NFE_AF,POLR1C
718172,6:43485103:C>T,NM_203290.2:c.129C>T,NP_976035.1:p.Asp43=,2/9,\N,Unknown significance,\N,synonymous_variant,13.19,0.00110132,EXAC_OTH_AF,POLR1C
718173,6:43485104:C>A,NM_203290.2:c.130C>A,NP_976035.1:p.Arg44Ser,2/9,\N,Unknown significance,\N,missense_variant,23.5,0.001,1KG_EAS_AF,POLR1C
718174,6:43485104:C>G,NM_203290.2:c.130C>G,NP_976035.1:p.Arg44Gly,2/9,\N,Unknown significance,\N,missense_variant,24.4,0.0000149835,EXAC_NFE_AF,POLR1C
718175,6:43485106:C>T,NM_203290.2:c.132C>T,NP_976035.1:p.Arg44=,2/9,\N,Unknown significance,\N,synonymous_variant,14.19,0.0000149835,EXAC_NFE_AF,POLR1C
718176,6:43485107:T>A,NM_203290.2:c.133T>A,NP_976035.1:p.Phe45Ile,2/9,\N,Unknown significance,\N,missense_variant,29.8,0.0000863707,EXAC_AMR_AF,POLR1C
718177,6:43485114:A>G,NM_203290.2:c.140A>G,NP_976035.1:p.Lys47Arg,2/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,16.52,0.0000149835,EXAC_NFE_AF,POLR1C
718178,6:43485116:G>A,NM_203290.2:c.141+1G>A,\N,\N,2/8,Unknown significance,\N,splice_donor_variant,26,0.0000149835,EXAC_NFE_AF,POLR1C
718179,6:43485121:T>C,NM_203290.2:c.141+6T>C,\N,\N,2/8,Unknown significance,\N,splice_region_variant&intron_variant,12.13,0.000115554,EXAC_EAS_AF,POLR1C
718180,6:43485127:C>T,NM_203290.2:c.141+12C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,12.78,0.000453926,EVS_AA_AF,POLR1C
718181,6:43485140:G>A,NM_203290.2:c.141+25G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,7.583,0.00110132,EXAC_OTH_AF,POLR1C
718182,6:43485144:G>T,NM_203290.2:c.141+29G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.319,0.000115554,EXAC_EAS_AF,POLR1C
718183,6:43485145:G>A,NM_203290.2:c.141+30G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,5.993,0.000060562,EXAC_SAS_AF,POLR1C
718184,6:43485146:T>C,NM_203290.2:c.141+31T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,2.165,0.000577768,EXAC_EAS_AF,POLR1C
718185,6:43485149:T>A,NM_203290.2:c.141+34T>A,\N,\N,2/8,Unknown significance,\N,intron_variant,6.662,0.001,1KG_EAS_AF,POLR1C
718186,6:43485149:T>C,NM_203290.2:c.141+34T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,4.384,0.0000149844,EXAC_NFE_AF,POLR1C
718187,6:43485154:G>A,NM_203290.2:c.141+39G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,8.515,0.000116279,EVS_EA_AF,POLR1C
718188,6:43485156:C>T,NM_203290.2:c.141+41C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,9.181,0.0000962279,EXAC_AFR_AF,POLR1C
718189,6:43485158:G>T,NM_203290.2:c.141+43G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,7.16,0.00161775,EXAC_EAS_AF,POLR1C
718190,6:43485159:A>G,NM_203290.2:c.141+44A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,6.904,0.000121124,EXAC_SAS_AF,POLR1C
718191,6:43485160:C>G,NM_203290.2:c.141+45C>G,\N,\N,2/8,Unknown significance,\N,intron_variant,7.471,0.001,1KG_SAS_AF,POLR1C
718192,6:43485160:C>T,NM_203290.2:c.141+45C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,9.181,0.000242248,EXAC_SAS_AF,POLR1C
718193,6:43485162:T>C,NM_203290.2:c.141+47T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,3.522,0.00231107,EXAC_EAS_AF,POLR1C
718194,6:43485163:T>C,NM_203290.2:c.141+48T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,6.614,0.000096581,EXAC_AFR_AF,POLR1C
718195,6:43485193:A>T,NM_203290.2:c.141+78A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.14,0.001,1KG_EUR_AF,POLR1C
718196,6:43485236:A>G,NM_203290.2:c.141+121A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,14.65,0.0043,1KG_AMR_AF,POLR1C
718197,6:43485244:G>A,NM_203290.2:c.141+129G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,15.71,0.001,1KG_SAS_AF,POLR1C
718198,6:43485269:G>C,NM_203290.2:c.141+154G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,11.43,\N,\N,POLR1C
718199,6:43485283:C>T,NM_203290.2:c.141+168C>T,\N,\N,2/8,Benign,\N,intron_variant,8.243,0.2839,1KG_AMR_AF,POLR1C
718200,6:43485286:G>A,NM_203290.2:c.141+171G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,6.566,0.001,1KG_SAS_AF,POLR1C
718201,6:43485315:G>T,NM_203290.2:c.141+200G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,4.553,\N,\N,POLR1C
718202,6:43485344:G>A,NM_203290.2:c.141+229G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,4.086,0.001,1KG_EUR_AF,POLR1C
718203,6:43485349:A>G,NM_203290.2:c.141+234A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,7.523,\N,\N,POLR1C
718204,6:43485373:G>C,NM_203290.2:c.141+258G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,3.063,\N,\N,POLR1C
718205,6:43485376:G>A,NM_203290.2:c.141+261G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,6.896,0.001,1KG_EAS_AF,POLR1C
718206,6:43485449:A>T,NM_203290.2:c.141+334A>T,\N,\N,2/8,Benign,\N,intron_variant,3.166,0.09,1KG_AFR_AF,POLR1C
718207,6:43485470:G>A,NM_203290.2:c.141+355G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,2.396,0.0008,1KG_AFR_AF,POLR1C
718208,6:43485487:A>T,NM_203290.2:c.141+372A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,4.167,\N,\N,POLR1C
718209,6:43485546:A>G,NM_203290.2:c.141+431A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,1.073,0.0014,1KG_AMR_AF,POLR1C
718210,6:43485588:G>A,NM_203290.2:c.141+473G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,15.82,\N,\N,POLR1C
718211,6:43485589:C>A,NM_203290.2:c.141+474C>A,\N,\N,2/8,Unknown significance,\N,intron_variant,19.12,\N,\N,POLR1C
718212,6:43485597:A>G,NM_203290.2:c.141+482A>G,\N,\N,2/8,Benign,\N,intron_variant,17.64,0.0164,1KG_SAS_AF,POLR1C
718213,6:43485637:C>G,NM_203290.2:c.141+522C>G,\N,\N,2/8,Benign,\N,intron_variant,2.48,0.09,1KG_AFR_AF,POLR1C
718214,6:43485659:G>C,NM_203290.2:c.141+544G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,0.199,\N,\N,POLR1C
718215,6:43485700:A>C,NM_203290.2:c.141+585A>C,\N,\N,2/8,Unknown significance,\N,intron_variant,12.42,\N,\N,POLR1C
718216,6:43485708:T>A,NM_203290.2:c.141+593T>A,\N,\N,2/8,Unknown significance,\N,intron_variant,18.43,\N,\N,POLR1C
718217,6:43485717:C>T,NM_203290.2:c.141+602C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,16.75,\N,\N,POLR1C
718218,6:43485773:A>T,NM_203290.2:c.141+658A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.137,0.0008,1KG_AFR_AF,POLR1C
718219,6:43485775:T>C,NM_203290.2:c.141+660T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,4.19,0.0008,1KG_AFR_AF,POLR1C
718220,6:43485785:G>T,NM_203290.2:c.141+670G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,3.755,0.001,1KG_SAS_AF,POLR1C
718221,6:43485803:A>G,NM_203290.2:c.141+688A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,4.689,0.001,1KG_SAS_AF,POLR1C
718222,6:43485806:T>A,NM_203290.2:c.141+691T>A,\N,\N,2/8,Benign,\N,intron_variant,5.758,0.045,1KG_SAS_AF,POLR1C
718223,6:43485811:G>A,NM_203290.2:c.141+696G>A,\N,\N,2/8,Benign,\N,intron_variant,3.512,0.4448,1KG_AFR_AF,POLR1C
718224,6:43485826:G>A,NM_203290.2:c.141+711G>A,\N,\N,2/8,Benign,\N,intron_variant,2.563,0.0198,1KG_EAS_AF,POLR1C
718225,6:43485831:A>T,NM_203290.2:c.141+716A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.151,0.003,1KG_AFR_AF,POLR1C
718226,6:43485838:G>A,NM_203290.2:c.141+723G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,6.026,0.001,1KG_EUR_AF,POLR1C
718227,6:43485882:A>G,NM_203290.2:c.141+767A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,6.486,\N,\N,POLR1C
718228,6:43485891:G>A,NM_203290.2:c.141+776G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,11.19,\N,\N,POLR1C
718229,6:43485915:T>C,NM_203290.2:c.141+800T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,2.495,0.001,1KG_EUR_AF,POLR1C
718230,6:43485967:C>T,NM_203290.2:c.141+852C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,5.109,\N,\N,POLR1C
718231,6:43486007:C>G,NM_203290.2:c.141+892C>G,\N,\N,2/8,Unknown significance,\N,intron_variant,5.624,\N,\N,POLR1C
718232,6:43486012:G>A,NM_203290.2:c.141+897G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,5.982,\N,\N,POLR1C
718233,6:43486038:G>A,NM_203290.2:c.141+923G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,1.006,0.002,1KG_EAS_AF,POLR1C
718234,6:43486041:G>A,NM_203290.2:c.141+926G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,5.072,0.001,1KG_SAS_AF,POLR1C
718235,6:43486076:G>A,NM_203290.2:c.141+961G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,5.718,\N,\N,POLR1C
718236,6:43486089:G>T,NM_203290.2:c.141+974G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,3.164,\N,\N,POLR1C
718237,6:43486098:G>T,NM_203290.2:c.142-973G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,1.858,0.0045,1KG_AFR_AF,POLR1C
718238,6:43486117:G>A,NM_203290.2:c.142-954G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,6.086,\N,\N,POLR1C
718239,6:43486125:G>T,NM_203290.2:c.142-946G>T,\N,\N,2/8,Benign,\N,intron_variant,4.94,0.1346,1KG_AFR_AF,POLR1C
718240,6:43486161:C>T,NM_203290.2:c.142-910C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,6.991,0.001,1KG_EUR_AF,POLR1C
718241,6:43486162:G>C,NM_203290.2:c.142-909G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,3.298,\N,\N,POLR1C
718242,6:43486205:A>T,NM_203290.2:c.142-866A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,3.696,\N,\N,POLR1C
718243,6:43486236:C>G,NM_203290.2:c.142-835C>G,\N,\N,2/8,Unknown significance,\N,intron_variant,8.418,0.001,1KG_EAS_AF,POLR1C
718244,6:43486245:G>T,NM_203290.2:c.142-826G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,6.353,\N,\N,POLR1C
718245,6:43486336:T>C,NM_203290.2:c.142-735T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,4.976,\N,\N,POLR1C
718246,6:43486362:A>T,NM_203290.2:c.142-709A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,3.098,0.002,1KG_EAS_AF,POLR1C
718247,6:43486402:G>T,NM_203290.2:c.142-669G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,2.085,\N,\N,POLR1C
718248,6:43486433:T>C,NM_203290.2:c.142-638T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,1.003,0.0008,1KG_AFR_AF,POLR1C
718249,6:43486434:C>A,NM_203290.2:c.142-637C>A,\N,\N,2/8,Unknown significance,\N,intron_variant,1.598,\N,\N,POLR1C
718250,6:43486449:G>C,NM_203290.2:c.142-622G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,0.027,\N,\N,POLR1C
718251,6:43486482:C>T,NM_203290.2:c.142-589C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,5.784,\N,\N,POLR1C
718252,6:43486485:G>A,NM_203290.2:c.142-586G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,3.284,0.004,1KG_EAS_AF,POLR1C
718253,6:43486509:C>A,NM_203290.2:c.142-562C>A,\N,\N,2/8,Unknown significance,\N,intron_variant,4.902,0.0029,1KG_AMR_AF,POLR1C
718254,6:43486514:C>T,NM_203290.2:c.142-557C>T,\N,\N,2/8,Benign,\N,intron_variant,1.286,0.0102,1KG_SAS_AF,POLR1C
718255,6:43486515:G>C,NM_203290.2:c.142-556G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,0.253,\N,\N,POLR1C
718256,6:43486556:C>T,NM_203290.2:c.142-515C>T,\N,\N,2/8,Benign,\N,intron_variant,0.637,0.006,1KG_EUR_AF,POLR1C
718257,6:43486565:T>C,NM_203290.2:c.142-506T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,1.278,\N,\N,POLR1C
718258,6:43486582:C>G,NM_203290.2:c.142-489C>G,\N,\N,2/8,Unknown significance,\N,intron_variant,1.298,\N,\N,POLR1C
718259,6:43486609:G>A,NM_203290.2:c.142-462G>A,\N,\N,2/8,Benign,\N,intron_variant,2.932,0.0184,1KG_SAS_AF,POLR1C
718260,6:43486621:T>C,NM_203290.2:c.142-450T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,2.997,\N,\N,POLR1C
718261,6:43486630:G>C,NM_203290.2:c.142-441G>C,\N,\N,2/8,Unknown significance,\N,intron_variant,0.957,\N,\N,POLR1C
718262,6:43486665:G>A,NM_203290.2:c.142-406G>A,\N,\N,2/8,Unknown significance,\N,intron_variant,0.348,\N,\N,POLR1C
718263,6:43486772:G>T,NM_203290.2:c.142-299G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,1.869,\N,\N,POLR1C
718264,6:43486774:G>T,NM_203290.2:c.142-297G>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.853,0.0023,1KG_AFR_AF,POLR1C
718265,6:43486795:A>C,NM_203290.2:c.142-276A>C,\N,\N,2/8,Benign,\N,intron_variant,1.34,0.0469,1KG_AFR_AF,POLR1C
718266,6:43486798:A>G,NM_203290.2:c.142-273A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,0.615,0.0008,1KG_AFR_AF,POLR1C
718267,6:43486800:G>A,NM_203290.2:c.142-271G>A,\N,\N,2/8,Benign,\N,intron_variant,4.024,0.0109,1KG_EAS_AF,POLR1C
718268,6:43486861:A>G,NM_203290.2:c.142-210A>G,\N,\N,2/8,Unknown significance,\N,intron_variant,16.77,0.001,1KG_EAS_AF,POLR1C
718269,6:43486862:T>C,NM_203290.2:c.142-209T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,15.65,\N,\N,POLR1C
718270,6:43486908:C>T,NM_203290.2:c.142-163C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,6.132,0.001,1KG_SAS_AF,POLR1C
718271,6:43486927:T>C,NM_203290.2:c.142-144T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,0.42,\N,\N,POLR1C
718272,6:43486970:G>C,NM_203290.2:c.142-101G>C,\N,\N,2/8,Benign,\N,intron_variant,1.883,0.0072,1KG_AMR_AF,POLR1C
718273,6:43487021:T>G,NM_203290.2:c.142-50T>G,\N,\N,2/8,Unknown significance,\N,intron_variant,1.663,0.000863132,EXAC_AFR_AF,POLR1C
718274,6:43487023:T>C,NM_203290.2:c.142-48T>C,\N,\N,2/8,Unknown significance,\N,intron_variant,3.446,0.00140449,EXAC_OTH_AF,POLR1C
718275,6:43487024:TAC>T,NM_203290.2:c.142-43_142-42del,\N,\N,2/8,Unknown significance,\N,intron_variant,8.896,0.000827565,EXAC_SAS_AF,POLR1C
718276,6:43487028:C>G,NM_203290.2:c.142-43C>G,\N,\N,2/8,Unknown significance,\N,intron_variant,0.079,0.000635647,EXAC_AMR_AF,POLR1C
718277,6:43487028:C>T,NM_203290.2:c.142-43C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,0.31,0.000825083,EXAC_SAS_AF,POLR1C
718278,6:43487032:GAGC>G,NM_203290.2:c.142-36_142-34del,\N,\N,2/8,Benign,\N,intron_variant,6.464,0.045,1KG_SAS_AF,POLR1C
718279,6:43487038:A>T,NM_203290.2:c.142-33A>T,\N,\N,2/8,Unknown significance,\N,intron_variant,1.932,\N,\N,POLR1C
718280,6:43487039:T>G,NM_203290.2:c.142-32T>G,\N,\N,2/8,Unknown significance,\N,intron_variant,4.322,0.000145603,EXAC_EAS_AF,POLR1C
718281,6:43487042:C>T,NM_203290.2:c.142-29C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,4.879,0.000287853,EXAC_EAS_AF,POLR1C
718282,6:43487044:C>A,NM_203290.2:c.142-27C>A,\N,\N,2/8,Unknown significance,\N,intron_variant,8.229,0.000018566,EXAC_NFE_AF,POLR1C
718283,6:43487044:C>T,NM_203290.2:c.142-27C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,7.488,0.000018566,EXAC_NFE_AF,POLR1C
718284,6:43487058:C>T,NM_203290.2:c.142-13C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,11.51,0.000159134,EXAC_FIN_AF,POLR1C
718285,6:43487059:C>T,NM_203290.2:c.142-12C>T,\N,\N,2/8,Unknown significance,\N,intron_variant,10.58,0.0000162054,EXAC_NFE_AF,POLR1C
718286,6:43487077:C>T,NM_203290.2:c.148C>T,NP_976035.1:p.Arg50Cys,3/9,\N,Unknown significance,\N,missense_variant,24.5,0.0000619579,EXAC_SAS_AF,POLR1C
718287,6:43487078:G>A,NM_001318876.1:c.149G>A,NP_001305805.1:p.Arg50His,3/9,\N,Unknown significance,\N,missense_variant,25.2,0.00012364,EXAC_SAS_AF,POLR1C
718288,6:43487078:G>T,NM_001318876.1:c.149G>T,NP_001305805.1:p.Arg50Leu,3/9,\N,Unknown significance,\N,missense_variant,23.7,0.000176367,EXAC_AMR_AF,POLR1C
718289,6:43487082:G>T,NM_203290.2:c.153G>T,NP_976035.1:p.Val51=,3/9,\N,Unknown significance,\N,synonymous_variant,16.66,0.0000614628,EXAC_SAS_AF,POLR1C
718290,6:43487087:T>C,NM_203290.2:c.158T>C,NP_976035.1:p.Val53Ala,3/9,\N,Unknown significance,\N,missense_variant,22.3,0.00011566,EXAC_EAS_AF,POLR1C
718291,6:43487089:G>A,NM_203290.2:c.160G>A,NP_976035.1:p.Val54Ile,3/9,\N,Unknown significance,\N,missense_variant,18.25,0.0000968992,EXAC_AFR_AF,POLR1C
718292,6:43487089:G>C,NM_203290.2:c.160G>C,NP_976035.1:p.Val54Leu,3/9,\N,Unknown significance,\N,missense_variant,18.98,0.00011566,EXAC_EAS_AF,POLR1C
718293,6:43487090:T>C,NM_203290.2:c.161T>C,NP_976035.1:p.Val54Ala,3/9,\N,Unknown significance,\N,missense_variant,19.09,0.0000150222,EXAC_NFE_AF,POLR1C
718294,6:43487092:C>T,NM_203290.2:c.163C>T,NP_976035.1:p.His55Tyr,3/9,\N,Likely benign,\N,missense_variant,21.6,0.0000966744,EXAC_AFR_AF,POLR1C
718295,6:43487095:A>G,NM_203290.2:c.166A>G,NP_976035.1:p.Met56Val,3/9,\N,Likely benign,\N,missense_variant,16.19,\N,\N,POLR1C
718296,6:43487096:TG>T,NM_203290.2:c.169del,NP_976035.1:p.Asp57MetfsTer25,3/9,\N,Unknown significance,\N,frameshift_variant,34,0.0000150087,EXAC_NFE_AF,POLR1C
718297,6:43487102:A>G,NM_203290.2:c.173A>G,NP_976035.1:p.Glu58Gly,3/9,\N,Unknown significance,\N,missense_variant,21.6,0.0000607829,EXAC_SAS_AF,POLR1C
718298,6:43487109:A>G,NM_203290.2:c.180A>G,NP_976035.1:p.Ser60=,3/9,\N,Unknown significance,\N,synonymous_variant,15.96,0.0000865951,EXAC_AMR_AF,POLR1C
718299,6:43487113:G>C,NM_203290.2:c.184G>C,NP_976035.1:p.Glu62Gln,3/9,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,POLR1C
718300,6:43487122:A>G,NM_203290.2:c.193A>G,NP_976035.1:p.Met65Val,3/9,\N,Unknown significance,\N,missense_variant,23,0.00174419,EVS_EA_AF,POLR1C
718301,6:43487133:T>C,NM_203290.2:c.204T>C,NP_976035.1:p.Ile68=,3/9,\N,Unknown significance,\N,synonymous_variant,16.11,0.000693481,EXAC_EAS_AF,POLR1C
718302,6:43487136:C>T,NM_203290.2:c.207C>T,NP_976035.1:p.Asp69=,3/9,\N,Unknown significance,\N,synonymous_variant,18.41,0.0000299841,EXAC_NFE_AF,POLR1C
718303,6:43487143:A>G,NM_203290.2:c.214A>G,NP_976035.1:p.Ile72Val,3/9,\N,Unknown significance,\N,missense_variant,23.5,0.0000865052,EXAC_AMR_AF,POLR1C
718304,6:43487146:G>T,NM_203290.2:c.217G>T,NP_976035.1:p.Ala73Ser,3/9,\N,Unknown significance,\N,missense_variant,27.6,0.0000962649,EXAC_AFR_AF,POLR1C
718305,6:43487148:C>G,NM_203290.2:c.219C>G,NP_976035.1:p.Ala73=,3/9,\N,Unknown significance,\N,synonymous_variant,17.77,0.0000149943,EXAC_NFE_AF,POLR1C
718306,6:43487150:A>G,NM_203290.2:c.221A>G,NP_976035.1:p.Asn74Ser,3/9,\N,Pathogenic,Leukodystrophy| hypomyelinating| 11; LEUKODYSTROPHY| HYPOMYELINATING| 11,missense_variant,26.3,0.000226963,EVS_AA_AF,POLR1C
718307,6:43487159:G>A,NM_203290.2:c.230G>A,NP_976035.1:p.Arg77Gln,3/9,\N,Unknown significance,\N,missense_variant,33,0.0000607091,EXAC_SAS_AF,POLR1C
718308,6:43487162:G>A,NM_203290.2:c.233G>A,NP_976035.1:p.Arg78Gln,3/9,\N,Unknown significance,\N,missense_variant,29.1,0.000115607,EXAC_EAS_AF,POLR1C
718309,6:43487168:T>C,NM_203290.2:c.239T>C,NP_976035.1:p.Leu80Pro,3/9,\N,Unknown significance,\N,missense_variant,26.3,0.0000150096,EXAC_NFE_AF,POLR1C
718310,6:43487176:G>C,NM_001318876.1:c.247G>C,NP_001305805.1:p.Glu83Gln,3/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.6,\N,\N,POLR1C
718311,6:43487180:T>C,NM_203290.2:c.249+2T>C,\N,\N,3/8,Unknown significance,\N,splice_donor_variant,24.5,0.0000150403,EXAC_NFE_AF,POLR1C
718312,6:43487186:C>A,NM_203290.2:c.249+8C>A,\N,\N,3/8,Unknown significance,\N,splice_region_variant&intron_variant,12.61,\N,\N,POLR1C
718313,6:43487195:T>C,NM_203290.2:c.249+17T>C,\N,\N,3/8,Unknown significance,\N,intron_variant,9.933,0.00011655,EXAC_EAS_AF,POLR1C
718314,6:43487199:A>G,NM_203290.2:c.249+21A>G,\N,\N,3/8,Unknown significance,\N,intron_variant,9.723,0.0000151035,EXAC_NFE_AF,POLR1C
718315,6:43487208:G>A,NM_203290.2:c.249+30G>A,\N,\N,3/8,Unknown significance,\N,intron_variant,6.951,0.0000879353,EXAC_AMR_AF,POLR1C
718316,6:43487208:G>T,NM_203290.2:c.249+30G>T,\N,\N,3/8,Unknown significance,\N,intron_variant,5.801,0.001,1KG_SAS_AF,POLR1C
718317,6:43487209:T>C,NM_203290.2:c.249+31T>C,\N,\N,3/8,Unknown significance,\N,intron_variant,6.755,0.000348837,EVS_EA_AF,POLR1C
718318,6:43487210:T>A,NM_203290.2:c.249+32T>A,\N,\N,3/8,Unknown significance,\N,intron_variant,8.268,0.000151883,EXAC_FIN_AF,POLR1C
718319,6:43487212:C>A,NM_203290.2:c.249+34C>A,\N,\N,3/8,Unknown significance,\N,intron_variant,6.571,0.0008,1KG_AFR_AF,POLR1C
718320,6:43487213:T>A,NM_203290.2:c.249+35T>A,\N,\N,3/8,Unknown significance,\N,intron_variant,7.133,0.0000614251,EXAC_SAS_AF,POLR1C
718321,6:43487218:G>C,NM_203290.2:c.249+40G>C,\N,\N,3/8,Unknown significance,\N,intron_variant,2.03,0.0000152073,EXAC_NFE_AF,POLR1C
718322,6:43487223:G>A,NM_203290.2:c.249+45G>A,\N,\N,3/8,Unknown significance,\N,intron_variant,5.516,0.0000152546,EXAC_NFE_AF,POLR1C
718323,6:43487223:G>T,NM_203290.2:c.249+45G>T,\N,\N,3/8,Unknown significance,\N,intron_variant,4.032,0.0000152546,EXAC_NFE_AF,POLR1C
718324,6:43487346:A>G,NM_203290.2:c.250-98A>G,\N,\N,3/8,Unknown significance,\N,intron_variant,10.84,0.0008,1KG_AFR_AF,POLR1C
718325,6:43487354:T>G,NM_203290.2:c.250-90T>G,\N,\N,3/8,Unknown significance,\N,intron_variant,7.811,\N,\N,POLR1C
718326,6:43487363:A>C,NM_203290.2:c.250-81A>C,\N,\N,3/8,Benign,\N,intron_variant,6.868,0.3472,1KG_AFR_AF,POLR1C
718327,6:43487383:C>T,NM_203290.2:c.250-61C>T,\N,\N,3/8,Unknown significance,\N,intron_variant,3.783,0.003,1KG_EAS_AF,POLR1C
718328,6:43487384:G>A,NM_203290.2:c.250-60G>A,\N,\N,3/8,Unknown significance,\N,intron_variant,5.608,0.001,1KG_EAS_AF,POLR1C
718329,6:43487394:A>AG,NM_203290.2:c.250-45dup,\N,\N,3/8,Unknown significance,\N,intron_variant,2.87,0.00023116,EXAC_EAS_AF,POLR1C
718330,6:43487398:G>A,NM_203290.2:c.250-46G>A,\N,\N,3/8,Unknown significance,\N,intron_variant,4.569,0.000014984,EXAC_NFE_AF,POLR1C
718331,6:43487399:G>A,NM_203290.2:c.250-45G>A,\N,\N,3/8,Unknown significance,\N,intron_variant,4.883,0.000014984,EXAC_NFE_AF,POLR1C
718332,6:43487401:C>CT,NM_203290.2:c.250-42dup,\N,\N,3/8,Unknown significance,\N,intron_variant,8.037,0.00011558,EXAC_EAS_AF,POLR1C
718333,6:43487403:G>C,NM_203290.2:c.250-41G>C,\N,\N,3/8,Benign,\N,intron_variant,0.604,0.020556,EXAC_AFR_AF,POLR1C
718334,6:43487405:T>C,NM_203290.2:c.250-39T>C,\N,\N,3/8,Unknown significance,\N,intron_variant,3.982,0.000060562,EXAC_SAS_AF,POLR1C
718335,6:43487408:GT>G,NM_203290.2:c.250-31del,\N,\N,3/8,Unknown significance,\N,intron_variant,1.291,0.000924428,EXAC_EAS_AF,POLR1C
718336,6:43487415:C>G,NM_203290.2:c.250-29C>G,\N,\N,3/8,Unknown significance,\N,intron_variant,7.398,0.003,1KG_EAS_AF,POLR1C
718337,6:43487419:T>G,NM_203290.2:c.250-25T>G,\N,\N,3/8,Unknown significance,\N,intron_variant,9.125,0.0000863707,EXAC_AMR_AF,POLR1C
718338,6:43487446:G>A,NM_203290.2:c.252G>A,NP_976035.1:p.Val84=,4/9,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,8.243,0.0000863707,EXAC_AMR_AF,POLR1C
718339,6:43487453:A>G,NM_203290.2:c.259A>G,NP_976035.1:p.Met87Val,4/9,\N,Unknown significance,\N,missense_variant,21.2,0.0000599341,EXAC_NFE_AF,POLR1C
718340,6:43487463:A>G,NM_203290.2:c.269A>G,NP_976035.1:p.Glu90Gly,4/9,\N,Unknown significance,\N,missense_variant,33,\N,\N,POLR1C
718341,6:43487481:A>G,NM_203290.2:c.287A>G,NP_976035.1:p.Asn96Ser,4/9,\N,Unknown significance,\N,missense_variant,25.9,0.000604595,EXAC_AMR_AF,POLR1C
718342,6:43487507:A>T,NM_203290.2:c.313A>T,NP_976035.1:p.Ile105Phe,4/9,\N,Unknown significance,\N,missense_variant,23.7,\N,\N,POLR1C
718343,6:43487513:G>C,NM_203290.2:c.319G>C,NP_976035.1:p.Ala107Pro,4/9,\N,Unknown significance,\N,missense_variant,31,0.0000149844,EXAC_NFE_AF,POLR1C
718344,6:43487514:C>T,NM_203290.2:c.320C>T,NP_976035.1:p.Ala107Val,4/9,\N,Unknown significance,\N,missense_variant,34,0.0000864304,EXAC_AMR_AF,POLR1C
718345,6:43487515:T>A,NM_203290.2:c.321T>A,NP_976035.1:p.Ala107=,4/9,\N,Unknown significance,\N,synonymous_variant,12.64,0.002,1KG_SAS_AF,POLR1C
718346,6:43487520:G>A,NM_203290.2:c.326G>A,NP_976035.1:p.Arg109His,4/9,\N,Pathogenic,Leukodystrophy| hypomyelinating| 11; LEUKODYSTROPHY| HYPOMYELINATING| 11,missense_variant,34,\N,\N,POLR1C
718347,6:43487528:C>A,NM_203290.2:c.334C>A,NP_976035.1:p.Leu112Ile,4/9,\N,Unknown significance,\N,missense_variant,33,0.0000149921,EXAC_NFE_AF,POLR1C
718348,6:43487531:A>T,NM_203290.2:c.337A>T,NP_976035.1:p.Ile113Phe,4/9,\N,Unknown significance,\N,missense_variant,28.5,\N,\N,POLR1C
718349,6:43487538:T>C,NM_203290.2:c.344T>C,NP_976035.1:p.Ile115Thr,4/9,\N,Unknown significance,\N,missense_variant,27.8,0.000173611,EXAC_AMR_AF,POLR1C
718350,6:43487545:T>C,NM_203290.2:c.351T>C,NP_976035.1:p.Ala117=,4/9,\N,Unknown significance,\N,synonymous_variant,9.201,0.000015039,EXAC_NFE_AF,POLR1C
718351,6:43487550:C>T,NM_203290.2:c.356C>T,NP_976035.1:p.Pro119Leu,4/9,\N,Unknown significance,\N,missense_variant,28.5,0.0000150852,EXAC_NFE_AF,POLR1C
718352,6:43487552:C>T,NM_203290.2:c.358C>T,NP_976035.1:p.Arg120Cys,4/9,\N,Unknown significance,\N,missense_variant,35,0.000453926,EVS_AA_AF,POLR1C
718353,6:43487553:G>A,NM_203290.2:c.359G>A,NP_976035.1:p.Arg120His,4/9,\N,Unknown significance,\N,missense_variant,34,0.0000610575,EXAC_SAS_AF,POLR1C
718354,6:43487561:G>A,NM_203290.2:c.367G>A,NP_976035.1:p.Glu123Lys,4/9,\N,Unknown significance,\N,missense_variant,23.3,0.000116279,EVS_EA_AF,POLR1C
718355,6:43487563:G>A,NM_203290.2:c.369G>A,NP_976035.1:p.Glu123=,4/9,\N,Unknown significance,\N,synonymous_variant,8.929,0.0000309195,EXAC_NFE_AF,POLR1C
718356,6:43487565:A>G,NM_203290.2:c.371A>G,NP_976035.1:p.Tyr124Cys,4/9,\N,Unknown significance,\N,missense_variant,25.7,\N,\N,POLR1C
718357,6:43487567:C>T,NM_203290.2:c.373C>T,NP_976035.1:p.Arg125Trp,4/9,\N,Unknown significance,\N,missense_variant,23.5,0.0000940026,EXAC_AMR_AF,POLR1C
718358,6:43487581:G>C,NM_203290.2:c.382+5G>C,\N,\N,4/8,Unknown significance,\N,splice_region_variant&intron_variant,6.024,0.000017066,EXAC_NFE_AF,POLR1C
718359,6:43487603:T>C,NM_203290.2:c.382+27T>C,\N,\N,4/8,Unknown significance,\N,intron_variant,4.766,0.000154847,EXAC_EAS_AF,POLR1C
718360,6:43487623:C>G,NM_203290.2:c.382+47C>G,\N,\N,4/8,Unknown significance,\N,intron_variant,16.06,0.000454133,EVS_AA_AF,POLR1C
718361,6:43487676:T>C,NM_203290.2:c.382+100T>C,\N,\N,4/8,Benign,\N,intron_variant,5.487,0.0219,1KG_AFR_AF,POLR1C
718362,6:43487712:G>C,NM_203290.2:c.383-92G>C,\N,\N,4/8,Benign,\N,intron_variant,11.6,0.0053,1KG_AFR_AF,POLR1C
718363,6:43487733:C>T,NM_203290.2:c.383-71C>T,\N,\N,4/8,Unknown significance,\N,intron_variant,11.4,0.0014,1KG_AMR_AF,POLR1C
718364,6:43487746:G>T,NM_203290.2:c.383-58G>T,\N,\N,4/8,Unknown significance,\N,intron_variant,12.79,\N,\N,POLR1C
718365,6:43487754:C>T,NM_203290.2:c.383-50C>T,\N,\N,4/8,Unknown significance,\N,intron_variant,10.81,0.000101729,EXAC_AMR_AF,POLR1C
718366,6:43487758:C>T,NM_203290.2:c.383-46C>T,\N,\N,4/8,Unknown significance,\N,intron_variant,7.692,0.0000640861,EXAC_SAS_AF,POLR1C
718367,6:43487762:C>CA,NM_203290.2:c.383-41dup,\N,\N,4/8,Unknown significance,\N,intron_variant,6.894,\N,\N,POLR1C
718368,6:43487766:C>T,NM_203290.2:c.383-38C>T,\N,\N,4/8,Unknown significance,\N,intron_variant,5.242,0.001,1KG_EAS_AF,POLR1C
718369,6:43487767:G>A,NM_203290.2:c.383-37G>A,\N,\N,4/8,Benign,\N,intron_variant,2.642,0.0126744,EVS_EA_AF,POLR1C
718370,6:43487781:A>T,NM_203290.2:c.383-23A>T,\N,\N,4/8,Unknown significance,\N,intron_variant,2.505,0.0000161603,EXAC_NFE_AF,POLR1C
718371,6:43487784:A>C,NM_203290.2:c.383-20A>C,\N,\N,4/8,Unknown significance,\N,intron_variant,0.751,0.0000320564,EXAC_NFE_AF,POLR1C
718372,6:43487810:A>G,NM_203290.2:c.389A>G,NP_976035.1:p.Glu130Gly,5/9,\N,Unknown significance,\N,missense_variant,22.7,0.00011885,EXAC_EAS_AF,POLR1C
718373,6:43487811:A>G,NM_203290.2:c.390A>G,NP_976035.1:p.Glu130=,5/9,\N,Unknown significance,\N,synonymous_variant,7.661,0.000116279,EVS_EA_AF,POLR1C
718374,6:43487816:G>A,NM_001318876.1:c.395G>A,NP_001305805.1:p.Gly132Asp,5/9,\N,Unknown significance,\N,missense_variant,24.8,0.000649253,EXAC_NFE_AF,POLR1C
718375,6:43487816:G>C,NM_203290.2:c.395G>C,NP_976035.1:p.Gly132Ala,5/9,\N,Unknown significance,\N,missense_variant,15.53,0.000470478,EXAC_EAS_AF,POLR1C
718376,6:43487819:C>A,NM_203290.2:c.398C>A,NP_976035.1:p.Thr133Lys,5/9,\N,Unknown significance,\N,missense_variant,24.5,0.00012161,EXAC_SAS_AF,POLR1C
718377,6:43487824:A>G,NM_203290.2:c.403A>G,NP_976035.1:p.Ile135Val,5/9,\N,Unknown significance,\N,missense_variant,12.43,0.000116279,EVS_EA_AF,POLR1C
718378,6:43487824:A>T,NM_203290.2:c.403A>T,NP_976035.1:p.Ile135Leu,5/9,\N,Unknown significance,\N,missense_variant,15.12,0.000096432,EXAC_AFR_AF,POLR1C
718379,6:43487830:A>G,NM_203290.2:c.409A>G,NP_976035.1:p.Thr137Ala,5/9,\N,Unknown significance,\N,missense_variant,26.1,\N,\N,POLR1C
718380,6:43487833:C>T,NM_203290.2:c.412C>T,NP_976035.1:p.Leu138=,5/9,\N,Unknown significance,\N,synonymous_variant,12.93,0.000015011,EXAC_NFE_AF,POLR1C
718381,6:43487835:A>C,NM_203290.2:c.414A>C,NP_976035.1:p.Leu138=,5/9,\N,Unknown significance,\N,synonymous_variant,0.728,0.000015006,EXAC_NFE_AF,POLR1C
718382,6:43487842:C>T,NM_203290.2:c.421C>T,NP_976035.1:p.Arg141Cys,5/9,\N,Benign,\N,missense_variant,34,0.0086,1KG_AMR_AF,POLR1C
718383,6:43487843:G>A,NM_203290.2:c.422G>A,NP_976035.1:p.Arg141His,5/9,\N,Unknown significance,\N,missense_variant,23.3,0.000115607,EXAC_EAS_AF,POLR1C
718384,6:43487846:T>C,NM_203290.2:c.425T>C,NP_976035.1:p.Leu142Pro,5/9,\N,Unknown significance,\N,missense_variant,25.8,0.001,1KG_EAS_AF,POLR1C
718385,6:43487853:C>T,NM_203290.2:c.432C>T,NP_976035.1:p.Val144=,5/9,\N,Unknown significance,\N,synonymous_variant,11.64,0.0000864603,EXAC_AMR_AF,POLR1C
718386,6:43487857:T>C,NM_203290.2:c.436T>C,NP_976035.1:p.Cys146Arg,5/9,\N,Pathogenic,Leukodystrophy| hypomyelinating| 11; LEUKODYSTROPHY| HYPOMYELINATING| 11,missense_variant,24.4,\N,\N,POLR1C
718387,6:43487859:C>T,NM_203290.2:c.438C>T,NP_976035.1:p.Cys146=,5/9,\N,Unknown significance,\N,synonymous_variant,8.23,0.000115554,EXAC_EAS_AF,POLR1C
718388,6:43487864:G>A,NM_001318876.1:c.443G>A,NP_001305805.1:p.Arg148Gln,5/9,\N,Unknown significance,\N,missense_variant,24.5,0.000232558,EVS_EA_AF,POLR1C
718389,6:43487870:C>A,NM_203290.2:c.449C>A,NP_976035.1:p.Pro150His,5/9,\N,Unknown significance,\N,missense_variant,23.8,0.000115554,EXAC_EAS_AF,POLR1C
718390,6:43487871:C>A,NM_203290.2:c.450C>A,NP_976035.1:p.Pro150=,5/9,\N,Unknown significance,\N,synonymous_variant,18.92,\N,\N,POLR1C
718391,6:43487871:C>T,NM_203290.2:c.450C>T,NP_976035.1:p.Pro150=,5/9,\N,Unknown significance,\N,synonymous_variant,17.26,0.000014984,EXAC_NFE_AF,POLR1C
718392,6:43487873:A>G,NM_203290.2:c.452A>G,NP_976035.1:p.His151Arg,5/9,\N,Likely benign,\N,missense_variant,4.946,0.000226963,EVS_AA_AF,POLR1C
718393,6:43487873:A>T,NM_203290.2:c.452A>T,NP_976035.1:p.His151Leu,5/9,\N,Likely benign,\N,missense_variant,15.77,0.00110132,EXAC_OTH_AF,POLR1C
718394,6:43487873:ATGC>A,NM_203290.2:c.457_459del,NP_976035.1:p.Ala153del,5/9,\N,Unknown significance,\N,inframe_deletion,23.1,0.0031,1KG_SAS_AF,POLR1C
718395,6:43487880:TAA>T,NM_203290.2:c.461_462del,NP_976035.1:p.Lys154ArgfsTer4,5/9,\N,Unknown significance,\N,frameshift_variant,35,0.000060562,EXAC_SAS_AF,POLR1C
718396,6:43487884:G>T,NM_203290.2:c.463G>T,NP_976035.1:p.Asp155Tyr,5/9,\N,Unknown significance,\N,missense_variant,29.8,0.000014984,EXAC_NFE_AF,POLR1C
718397,6:43487890:T>C,NM_001318876.1:c.469T>C,NP_001305805.1:p.Ser157Pro,5/9,\N,Unknown significance,\N,missense_variant,21.9,0.0000863856,EXAC_AMR_AF,POLR1C
718398,6:43487891:C>G,NM_203290.2:c.470C>G,NP_976035.1:p.Ser157Cys,5/9,\N,Unknown significance,\N,missense_variant,29.2,0.0000749198,EXAC_NFE_AF,POLR1C
718399,6:43487896:C>G,NM_203290.2:c.475C>G,NP_976035.1:p.Pro159Ala,5/9,\N,Unknown significance,\N,missense_variant,22.8,0.0000863856,EXAC_AMR_AF,POLR1C
718400,6:43487901:C>T,NM_203290.2:c.480C>T,NP_976035.1:p.Asn160=,5/9,\N,Unknown significance,\N,synonymous_variant,16.65,0.00110132,EXAC_OTH_AF,POLR1C
718401,6:43487902:G>C,NM_203290.2:c.481G>C,NP_976035.1:p.Glu161Gln,5/9,\N,Unknown significance,\N,missense_variant,22.7,0.000014984,EXAC_NFE_AF,POLR1C
718402,6:43487902:G>T,NM_203290.2:c.481G>T,NP_976035.1:p.Glu161Ter,5/9,\N,Unknown significance,\N,stop_gained,41,0.000014984,EXAC_NFE_AF,POLR1C
718403,6:43487910:C>T,NM_203290.2:c.489C>T,NP_976035.1:p.Tyr163=,5/9,\N,Unknown significance,\N,synonymous_variant,12.58,0.0043,1KG_AMR_AF,POLR1C
718404,6:43487910:CGTGAACCACAAAG>C,NM_203290.2:c.494_502+4del,\N,5/9,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,0.000014984,EXAC_NFE_AF,POLR1C
718405,6:43487911:G>A,NM_203290.2:c.490G>A,NP_976035.1:p.Val164Met,5/9,\N,Unknown significance,\N,missense_variant,20.6,0.0008,1KG_AFR_AF,POLR1C
718406,6:43487915:A>T,NM_203290.2:c.494A>T,NP_976035.1:p.Asn165Ile,5/9,\N,Unknown significance,\N,missense_variant,32,0.000115554,EXAC_EAS_AF,POLR1C
718407,6:43487923:G>A,NM_203290.2:c.502G>A,NP_976035.1:p.Val168Met,5/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.2,0.000115554,EXAC_EAS_AF,POLR1C
718408,6:43487927:A>C,NM_203290.2:c.502+4A>C,\N,\N,5/8,Unknown significance,\N,splice_region_variant&intron_variant,12.33,0.0000149853,EXAC_NFE_AF,POLR1C
718409,6:43487930:A>C,NM_203290.2:c.502+7A>C,\N,\N,5/8,Unknown significance,\N,splice_region_variant&intron_variant,10.5,0.000226963,EVS_AA_AF,POLR1C
718410,6:43487932:T>TG,NM_203290.2:c.502+11dup,\N,\N,5/8,Unknown significance,\N,intron_variant,15.25,0.0000863707,EXAC_AMR_AF,POLR1C
718411,6:43487938:G>A,NM_203290.2:c.502+15G>A,\N,\N,5/8,Unknown significance,\N,intron_variant,11.15,0.000226963,EVS_AA_AF,POLR1C
718412,6:43487940:T>G,NM_203290.2:c.502+17T>G,\N,\N,5/8,Unknown significance,\N,intron_variant,12.6,\N,\N,POLR1C
718413,6:43487942:A>C,NM_203290.2:c.502+19A>C,\N,\N,5/8,Unknown significance,\N,intron_variant,11.33,\N,\N,POLR1C
718414,6:43487947:G>A,NM_203290.2:c.502+24G>A,\N,\N,5/8,Unknown significance,\N,intron_variant,13.81,0.0000961538,EXAC_AFR_AF,POLR1C
718415,6:43487948:A>G,NM_203290.2:c.502+25A>G,\N,\N,5/8,Unknown significance,\N,intron_variant,7.365,0.0000299787,EXAC_NFE_AF,POLR1C
718416,6:43487954:C>T,NM_203290.2:c.502+31C>T,\N,\N,5/8,Unknown significance,\N,intron_variant,4.073,0.0000449708,EXAC_NFE_AF,POLR1C
718417,6:43487956:C>T,NM_203290.2:c.502+33C>T,\N,\N,5/8,Unknown significance,\N,intron_variant,5.292,0.0000605694,EXAC_SAS_AF,POLR1C
718418,6:43487960:T>G,NM_203290.2:c.502+37T>G,\N,\N,5/8,Unknown significance,\N,intron_variant,4.583,\N,\N,POLR1C
718419,6:43487964:T>C,NM_203290.2:c.502+41T>C,\N,\N,5/8,Unknown significance,\N,intron_variant,2.703,0.00146932,EXAC_AMR_AF,POLR1C
718420,6:43487967:C>T,NM_203290.2:c.502+44C>T,\N,\N,5/8,Unknown significance,\N,intron_variant,2.356,0.0000605694,EXAC_SAS_AF,POLR1C
718421,6:43487969:G>A,NM_203290.2:c.503-44G>A,\N,\N,5/8,Unknown significance,\N,intron_variant,5.498,0.0014,1KG_AMR_AF,POLR1C
718422,6:43487979:G>A,NM_203290.2:c.503-34G>A,\N,\N,5/8,Unknown significance,\N,intron_variant,3.218,0.0000149975,EXAC_NFE_AF,POLR1C
718423,6:43487990:C>A,NM_203290.2:c.503-23C>A,\N,\N,5/8,Unknown significance,\N,intron_variant,10.42,0.0000150024,EXAC_NFE_AF,POLR1C
718424,6:43487992:T>G,NM_203290.2:c.503-21T>G,\N,\N,5/8,Unknown significance,\N,intron_variant,8.431,0.0000962279,EXAC_AFR_AF,POLR1C
718425,6:43487997:C>T,NM_203290.2:c.503-16C>T,\N,\N,5/8,Unknown significance,\N,intron_variant,14.03,0.0008,1KG_AFR_AF,POLR1C
718426,6:43487997:CAT>C,NM_203290.2:c.503-15_503-14del,\N,\N,5/8,Unknown significance,\N,intron_variant,15.53,\N,\N,POLR1C
718427,6:43487998:A>C,NM_203290.2:c.503-15A>C,\N,\N,5/8,Unknown significance,\N,intron_variant,11.98,\N,\N,POLR1C
718428,6:43488003:T>C,NM_203290.2:c.503-10T>C,\N,\N,5/8,Unknown significance,\N,intron_variant,15.38,0.0000150083,EXAC_NFE_AF,POLR1C
718429,6:43488006:C>T,NM_203290.2:c.503-7C>T,\N,\N,5/8,Unknown significance,\N,splice_region_variant&intron_variant,13.65,0.002,1KG_SAS_AF,POLR1C
718430,6:43488013:T>C,NM_203290.2:c.503T>C,NP_976035.1:p.Val168Ala,6/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.4,0.0000605767,EXAC_SAS_AF,POLR1C
718431,6:43488016:A>G,NM_203290.2:c.506A>G,NP_976035.1:p.Tyr169Cys,6/9,\N,Unknown significance,\N,missense_variant,28.3,0.000151194,EXAC_FIN_AF,POLR1C
718432,6:43488020:C>G,NM_203290.2:c.510C>G,NP_976035.1:p.Thr170=,6/9,\N,Unknown significance,\N,synonymous_variant,12.31,0.000866885,EXAC_AFR_AF,POLR1C
718433,6:43488027:A>G,NM_203290.2:c.517A>G,NP_976035.1:p.Met173Val,6/9,\N,Unknown significance,\N,missense_variant,22.9,0.0000605767,EXAC_SAS_AF,POLR1C
718434,6:43488030:ACATGGATC>A,NM_203290.2:c.522_529del,NP_976035.1:p.Trp175ProfsTer6,6/9,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,POLR1C
718435,6:43488032:A>G,NM_203290.2:c.522A>G,NP_976035.1:p.Thr174=,6/9,\N,Unknown significance,\N,synonymous_variant,6.258,0.0000150132,EXAC_NFE_AF,POLR1C
718436,6:43488033:TG>T,NM_203290.2:c.525del,NP_976035.1:p.Trp175Ter,6/9,\N,Unknown significance,\N,frameshift_variant,35,0.0000150132,EXAC_NFE_AF,POLR1C
718437,6:43488038:C>A,NM_203290.2:c.528C>A,NP_976035.1:p.Ile176=,6/9,\N,Unknown significance,\N,synonymous_variant,20.6,0.000115821,EXAC_EAS_AF,POLR1C
718438,6:43488038:C>T,NM_203290.2:c.528C>T,NP_976035.1:p.Ile176=,6/9,\N,Unknown significance,\N,synonymous_variant,15.77,\N,\N,POLR1C
718439,6:43488046:G>A,NM_203290.2:c.536G>A,NP_976035.1:p.Gly179Glu,6/9,\N,Unknown significance,\N,missense_variant,26.3,0.0000864155,EXAC_AMR_AF,POLR1C
718440,6:43488056:T>C,NM_203290.2:c.546T>C,NP_976035.1:p.Ala182=,6/9,\N,Unknown significance,\N,synonymous_variant,10.11,0.0000150137,EXAC_NFE_AF,POLR1C
718441,6:43488060:C>G,NM_203290.2:c.550C>G,NP_976035.1:p.Leu184Val,6/9,\N,Likely benign,\N,missense_variant,10.35,0.00231036,EXAC_AFR_AF,POLR1C
718442,6:43488061:T>C,NM_203290.2:c.551T>C,NP_976035.1:p.Leu184Pro,6/9,\N,Unknown significance,\N,missense_variant,20.9,0.000015011,EXAC_NFE_AF,POLR1C
718443,6:43488067:C>T,NM_203290.2:c.557C>T,NP_976035.1:p.Pro186Leu,6/9,\N,Unknown significance,\N,missense_variant,23.4,0.0000864006,EXAC_AMR_AF,POLR1C
718444,6:43488071:G>A,NM_203290.2:c.561G>A,NP_976035.1:p.Glu187=,6/9,\N,Unknown significance,\N,synonymous_variant,11.24,0.00154024,EXAC_AFR_AF,POLR1C
718445,6:43488072:G>C,NM_203290.2:c.562G>C,NP_976035.1:p.Gly188Arg,6/9,\N,Unknown significance,\N,missense_variant,22.7,0.0000150078,EXAC_NFE_AF,POLR1C
718446,6:43488074:C>T,NM_203290.2:c.564C>T,NP_976035.1:p.Gly188=,6/9,\N,Unknown significance,\N,synonymous_variant,15.55,0.0000605694,EXAC_SAS_AF,POLR1C
718447,6:43488075:A>G,NM_203290.2:c.565A>G,NP_976035.1:p.Thr189Ala,6/9,\N,Likely benign,\N,missense_variant,4.838,0.0000863856,EXAC_AMR_AF,POLR1C
718448,6:43488078:A>G,NM_203290.2:c.568A>G,NP_976035.1:p.Ile190Val,6/9,\N,Unknown significance,\N,missense_variant,15.18,\N,\N,POLR1C
718449,6:43488081:C>T,NM_203290.2:c.571C>T,NP_976035.1:p.Arg191Ter,6/9,\N,Unknown significance,\N,stop_gained,40,0.0000150074,EXAC_NFE_AF,POLR1C
718450,6:43488082:G>A,NM_203290.2:c.572G>A,NP_976035.1:p.Arg191Gln,6/9,\N,Unknown significance,\N,missense_variant,25.4,0.000348837,EVS_EA_AF,POLR1C
718451,6:43488084:C>T,NM_203290.2:c.574C>T,NP_976035.1:p.Pro192Ser,6/9,\N,Unknown significance,\N,missense_variant,26.1,0.0000150038,EXAC_NFE_AF,POLR1C
718452,6:43488091:A>C,NM_203290.2:c.581A>C,NP_976035.1:p.His194Pro,6/9,\N,Unknown significance,\N,missense_variant,24.7,0.000121124,EXAC_SAS_AF,POLR1C
718453,6:43488093:G>C,NM_203290.2:c.583G>C,NP_976035.1:p.Asp195His,6/9,\N,Unknown significance,\N,missense_variant,24,0.00285073,EXAC_AMR_AF,POLR1C
718454,6:43488095:T>C,NM_203290.2:c.585T>C,NP_976035.1:p.Asp195=,6/9,\N,Unknown significance,\N,synonymous_variant,4.955,0.000259157,EXAC_AMR_AF,POLR1C
718455,6:43488096:G>GAT,NM_203290.2:c.589_590dup,NP_976035.1:p.Leu198SerfsTer57,6/9,\N,Unknown significance,\N,frameshift_variant,35,0.00011566,EXAC_EAS_AF,POLR1C
718456,6:43488097:A>G,NM_203290.2:c.587A>G,NP_976035.1:p.Asp196Gly,6/9,\N,Unknown significance,\N,missense_variant,29.6,0.0000150024,EXAC_NFE_AF,POLR1C
718457,6:43488101:C>T,NM_203290.2:c.591C>T,NP_976035.1:p.Ile197=,6/9,\N,Unknown significance,\N,synonymous_variant,16.7,\N,\N,POLR1C
718458,6:43488104:C>T,NM_203290.2:c.594C>T,NP_976035.1:p.Leu198=,6/9,\N,Unknown significance,\N,synonymous_variant,13.65,0.0000600096,EXAC_NFE_AF,POLR1C
718459,6:43488107:C>T,NM_203290.2:c.597C>T,NP_976035.1:p.Ile199=,6/9,\N,Unknown significance,\N,synonymous_variant,19.14,0.0000300021,EXAC_NFE_AF,POLR1C
718460,6:43488108:G>A,NM_203290.2:c.598G>A,NP_976035.1:p.Ala200Thr,6/9,\N,Unknown significance,\N,missense_variant,23.6,0.00110375,EXAC_OTH_AF,POLR1C
718461,6:43488117:C>T,NM_203290.2:c.607C>T,NP_976035.1:p.Arg203Trp,6/9,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,POLR1C
718462,6:43488118:G>A,NM_203290.2:c.608G>A,NP_976035.1:p.Arg203Gln,6/9,\N,Unknown significance,\N,missense_variant,35,0.000121168,EXAC_SAS_AF,POLR1C
718463,6:43488119:G>T,NM_203290.2:c.609G>T,NP_976035.1:p.Arg203=,6/9,\N,Unknown significance,\N,synonymous_variant,11.34,0.0008,1KG_AFR_AF,POLR1C
718464,6:43488121:C>G,NM_203290.2:c.611C>G,NP_976035.1:p.Pro204Arg,6/9,\N,Unknown significance,\N,missense_variant,32,0.0000150002,EXAC_NFE_AF,POLR1C
718465,6:43488130:A>C,NM_203290.2:c.620A>C,NP_976035.1:p.Glu207Ala,6/9,\N,Unknown significance,\N,missense_variant,24.4,0.0000299994,EXAC_NFE_AF,POLR1C
718466,6:43488132:A>G,NM_203290.2:c.622A>G,NP_976035.1:p.Ile208Val,6/9,\N,Unknown significance,\N,missense_variant,23.3,0.000121124,EXAC_SAS_AF,POLR1C
718467,6:43488133:T>C,NM_203290.2:c.623T>C,NP_976035.1:p.Ile208Thr,6/9,\N,Unknown significance,\N,missense_variant,27.9,0.000060562,EXAC_SAS_AF,POLR1C
718468,6:43488142:T>C,NM_203290.2:c.632T>C,NP_976035.1:p.Leu211Pro,6/9,\N,Unknown significance,\N,missense_variant,21.4,0.00011566,EXAC_EAS_AF,POLR1C
718469,6:43488144:A>G,NM_203290.2:c.634A>G,NP_976035.1:p.Met212Val,6/9,\N,Benign,\N,missense_variant,22.5,0.0863,1KG_EAS_AF,POLR1C
718470,6:43488155:C>T,NM_203290.2:c.645C>T,NP_976035.1:p.Val215=,6/9,\N,Unknown significance,\N,synonymous_variant,15.04,0.000453926,EVS_AA_AF,POLR1C
718471,6:43488156:A>G,NM_203290.2:c.646A>G,NP_976035.1:p.Lys216Glu,6/9,\N,Unknown significance,\N,missense_variant,32,\N,\N,POLR1C
718472,6:43488163:T>G,NM_203290.2:c.653T>G,NP_976035.1:p.Ile218Ser,6/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.0000605694,EXAC_SAS_AF,POLR1C
718473,6:43488179:G>A,NM_203290.2:c.655+14G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,6.658,0.000453926,EVS_AA_AF,POLR1C
718474,6:43488180:T>C,NM_203290.2:c.655+15T>C,\N,\N,6/8,Unknown significance,\N,intron_variant,1.807,0.0000150011,EXAC_NFE_AF,POLR1C
718475,6:43488186:C>G,NM_203290.2:c.655+21C>G,\N,\N,6/8,Unknown significance,\N,intron_variant,5.252,0.000060562,EXAC_SAS_AF,POLR1C
718476,6:43488189:G>A,NM_203290.2:c.655+24G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,7.146,0.000202224,EXAC_AFR_AF,POLR1C
718477,6:43488190:G>A,NM_203290.2:c.655+25G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,7.222,0.000181686,EXAC_SAS_AF,POLR1C
718478,6:43488195:G>C,NM_203290.2:c.655+30G>C,\N,\N,6/8,Unknown significance,\N,intron_variant,0.392,0.0000300066,EXAC_NFE_AF,POLR1C
718479,6:43488199:A>G,NM_203290.2:c.655+34A>G,\N,\N,6/8,Unknown significance,\N,intron_variant,2.099,0.0000150047,EXAC_NFE_AF,POLR1C
718480,6:43488200:T>C,NM_203290.2:c.655+35T>C,\N,\N,6/8,Unknown significance,\N,intron_variant,0.852,0.0000150042,EXAC_NFE_AF,POLR1C
718481,6:43488204:T>G,NM_203290.2:c.655+39T>G,\N,\N,6/8,Unknown significance,\N,intron_variant,5.412,0.00068306,EVS_AA_AF,POLR1C
718482,6:43488205:C>T,NM_203290.2:c.655+40C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,1.475,0.000116414,EVS_EA_AF,POLR1C
718483,6:43488206:G>A,NM_203290.2:c.655+41G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,4.329,\N,\N,POLR1C
718484,6:43488208:T>G,NM_203290.2:c.655+43T>G,\N,\N,6/8,Unknown significance,\N,intron_variant,4.828,0.0008,1KG_AFR_AF,POLR1C
718485,6:43488210:G>C,NM_203290.2:c.655+45G>C,\N,\N,6/8,Unknown significance,\N,intron_variant,5.018,0.0000150029,EXAC_NFE_AF,POLR1C
718486,6:43488211:C>T,NM_203290.2:c.655+46C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,9.01,0.0000864603,EXAC_AMR_AF,POLR1C
718487,6:43488213:G>C,NM_203290.2:c.655+48G>C,\N,\N,6/8,Unknown significance,\N,intron_variant,8.624,0.000101358,EXAC_AFR_AF,POLR1C
718488,6:43488221:A>G,NM_203290.2:c.655+56A>G,\N,\N,6/8,Unknown significance,\N,intron_variant,4.549,\N,\N,POLR1C
718489,6:43488252:C>T,NM_203290.2:c.655+87C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,1.949,\N,\N,POLR1C
718490,6:43488253:G>A,NM_203290.2:c.655+88G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,0.626,\N,\N,POLR1C
718491,6:43488298:TAGG>T,NM_203290.2:c.656-59_656-57del,\N,\N,6/8,Benign,\N,intron_variant,8.109,0.0219,1KG_AFR_AF,POLR1C
718492,6:43488307:T>C,NM_203290.2:c.656-56T>C,\N,\N,6/8,Unknown significance,\N,intron_variant,1.966,0.001,1KG_EAS_AF,POLR1C
718493,6:43488319:C>A,NM_203290.2:c.656-44C>A,\N,\N,6/8,Unknown significance,\N,intron_variant,1.619,0.0000149907,EXAC_NFE_AF,POLR1C
718494,6:43488319:C>T,NM_203290.2:c.656-44C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,0.806,0.000115554,EXAC_EAS_AF,POLR1C
718495,6:43488321:C>T,NM_203290.2:c.656-42C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,3.743,0.000060562,EXAC_SAS_AF,POLR1C
718496,6:43488323:A>G,NM_203290.2:c.656-40A>G,\N,\N,6/8,Unknown significance,\N,intron_variant,4.369,0.0000863856,EXAC_AMR_AF,POLR1C
718497,6:43488326:A>T,NM_203290.2:c.656-37A>T,\N,\N,6/8,Unknown significance,\N,intron_variant,3.592,0.000226963,EVS_AA_AF,POLR1C
718498,6:43488330:T>C,NM_203290.2:c.656-33T>C,\N,\N,6/8,Unknown significance,\N,intron_variant,3.89,0.000116279,EVS_EA_AF,POLR1C
718499,6:43488336:A>G,NM_203290.2:c.656-27A>G,\N,\N,6/8,Unknown significance,\N,intron_variant,5.229,0.000116279,EVS_EA_AF,POLR1C
718500,6:43488343:C>T,NM_203290.2:c.656-20C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,0.584,\N,\N,POLR1C
718501,6:43488344:G>A,NM_203290.2:c.656-19G>A,\N,\N,6/8,Unknown significance,\N,intron_variant,1.292,0.001,1KG_EUR_AF,POLR1C
718502,6:43488349:C>T,NM_203290.2:c.656-14C>T,\N,\N,6/8,Unknown significance,\N,intron_variant,0.371,0.000014988,EXAC_NFE_AF,POLR1C
718503,6:43488354:C>T,NM_203290.2:c.656-9C>T,\N,\N,6/8,Benign,\N,intron_variant,7.897,0.115123,EXAC_AFR_AF,POLR1C
718504,6:43488355:C>T,NM_203290.2:c.656-8C>T,\N,\N,6/8,Unknown significance,\N,splice_region_variant&intron_variant,11.78,0.000060562,EXAC_SAS_AF,POLR1C
718505,6:43488369:A>G,NM_203290.2:c.662A>G,NP_976035.1:p.Asp221Gly,7/9,\N,Unknown significance,\N,missense_variant,29.1,\N,\N,POLR1C
718506,6:43488372:A>C,NM_203290.2:c.665A>C,NP_976035.1:p.His222Pro,7/9,\N,Unknown significance,\N,missense_variant,27.8,0.0000149862,EXAC_NFE_AF,POLR1C
718507,6:43488376:C>G,NM_203290.2:c.669C>G,NP_976035.1:p.Ala223=,7/9,\N,Unknown significance,\N,synonymous_variant,12.03,0.000226963,EVS_AA_AF,POLR1C
718508,6:43488377:A>G,NM_203290.2:c.670A>G,NP_976035.1:p.Lys224Glu,7/9,\N,Unknown significance,\N,missense_variant,31,0.0000149862,EXAC_NFE_AF,POLR1C
718509,6:43488386:C>T,NM_203290.2:c.679C>T,NP_976035.1:p.Pro227Ser,7/9,\N,Unknown significance,\N,missense_variant,32,0.000121124,EXAC_SAS_AF,POLR1C
718510,6:43488387:C>T,NM_203290.2:c.680C>T,NP_976035.1:p.Pro227Leu,7/9,\N,Unknown significance,\N,missense_variant,33,0.000060562,EXAC_SAS_AF,POLR1C
718511,6:43488391:G>A,NM_203290.2:c.684G>A,NP_976035.1:p.Val228=,7/9,\N,Unknown significance,\N,synonymous_variant,11.9,0.0000599466,EXAC_NFE_AF,POLR1C
718512,6:43488395:A>C,NM_203290.2:c.688A>C,NP_976035.1:p.Thr230Pro,7/9,\N,Unknown significance,\N,missense_variant,25.5,\N,\N,POLR1C
718513,6:43488406:C>A,NM_203290.2:c.699C>A,NP_976035.1:p.Tyr233Ter,7/9,\N,Unknown significance,\N,stop_gained,35,0.0000149862,EXAC_NFE_AF,POLR1C
718514,6:43488406:C>T,NM_203290.2:c.699C>T,NP_976035.1:p.Tyr233=,7/9,\N,Unknown significance,\N,synonymous_variant,8.174,0.0000149862,EXAC_NFE_AF,POLR1C
718515,6:43488409:G>A,NM_203290.2:c.702G>A,NP_976035.1:p.Arg234=,7/9,\N,Unknown significance,\N,synonymous_variant,12.88,0.0000299724,EXAC_NFE_AF,POLR1C
718516,6:43488422:A>G,NM_203290.2:c.715A>G,NP_976035.1:p.Ile239Val,7/9,\N,Unknown significance,\N,missense_variant,23.7,0.000604778,EXAC_FIN_AF,POLR1C
718517,6:43488426:C>A,NM_203290.2:c.719C>A,NP_976035.1:p.Thr240Asn,7/9,\N,Unknown significance,\N,missense_variant,20.3,0.0000149858,EXAC_NFE_AF,POLR1C
718518,6:43488434:G>A,NM_203290.2:c.727G>A,NP_976035.1:p.Glu243Lys,7/9,\N,Likely benign,\N,missense_variant,10.69,0.0000149858,EXAC_NFE_AF,POLR1C
718519,6:43488437:C>T,NM_001318876.1:c.730C>T,NP_001305805.1:p.Pro244Ser,7/9,\N,Unknown significance,\N,missense_variant,27.5,0.000259157,EXAC_AMR_AF,POLR1C
718520,6:43488439:C>T,NM_203290.2:c.732C>T,NP_976035.1:p.Pro244=,7/9,\N,Unknown significance,\N,synonymous_variant,18.28,0.0000863856,EXAC_AMR_AF,POLR1C
718521,6:43488440:G>A,NM_203290.2:c.733G>A,NP_976035.1:p.Val245Met,7/9,\N,Unknown significance,\N,missense_variant,27.6,0.000192345,EXAC_AFR_AF,POLR1C
718522,6:43488441:T>A,NM_203290.2:c.734T>A,NP_976035.1:p.Val245Glu,7/9,\N,Unknown significance,\N,missense_variant,33,0.000060562,EXAC_SAS_AF,POLR1C
718523,6:43488448:G>C,NM_203290.2:c.741G>C,NP_976035.1:p.Gly247=,7/9,\N,Unknown significance,\N,synonymous_variant,9.035,0.000115554,EXAC_EAS_AF,POLR1C
718524,6:43488453:C>T,NM_203290.2:c.746C>T,NP_976035.1:p.Ala249Val,7/9,\N,Likely benign,\N,missense_variant,22.8,0.000014988,EXAC_NFE_AF,POLR1C
718525,6:43488469:C>T,NM_203290.2:c.762C>T,NP_976035.1:p.Ser254=,7/9,\N,Unknown significance,\N,synonymous_variant,13.05,0.00136178,EVS_AA_AF,POLR1C
718526,6:43488473:T>C,NM_203290.2:c.766T>C,NP_976035.1:p.Cys256Arg,7/9,\N,Unknown significance,\N,missense_variant,25.9,0.000014988,EXAC_NFE_AF,POLR1C
718527,6:43488478:C>G,NM_203290.2:c.771C>G,NP_976035.1:p.Phe257Leu,7/9,\N,Unknown significance,\N,missense_variant,28,0.0000449654,EXAC_NFE_AF,POLR1C
718528,6:43488478:C>T,NM_203290.2:c.771C>T,NP_976035.1:p.Phe257=,7/9,\N,Unknown significance,\N,synonymous_variant,14.83,0.000104919,EXAC_NFE_AF,POLR1C
718529,6:43488483:C>G,NM_203290.2:c.776C>G,NP_976035.1:p.Pro259Arg,7/9,\N,Unknown significance,\N,missense_variant,18.59,0.000151194,EXAC_FIN_AF,POLR1C
718530,6:43488483:C>T,NM_203290.2:c.776C>T,NP_976035.1:p.Pro259Leu,7/9,\N,Unknown significance,\N,missense_variant,23,0.000060562,EXAC_SAS_AF,POLR1C
718531,6:43488492:T>C,NM_203290.2:c.785T>C,NP_976035.1:p.Ile262Thr,7/9,\N,Unknown significance,\N,missense_variant,26.2,0.000115554,EXAC_EAS_AF,POLR1C
718532,6:43488494:G>A,NM_203290.2:c.787G>A,NP_976035.1:p.Glu263Lys,7/9,\N,Unknown significance,\N,missense_variant,21.8,0.001,1KG_EAS_AF,POLR1C
718533,6:43488496:G>C,NM_203290.2:c.789G>C,NP_976035.1:p.Glu263Asp,7/9,\N,Unknown significance,\N,missense_variant,11.19,0.0000962464,EXAC_AFR_AF,POLR1C
718534,6:43488499:G>A,NM_203290.2:c.792G>A,NP_976035.1:p.Val264=,7/9,\N,Unknown significance,\N,synonymous_variant,9.611,0.0014,1KG_AMR_AF,POLR1C
718535,6:43488506:G>T,NM_203290.2:c.799G>T,NP_976035.1:p.Val267Phe,7/9,\N,Unknown significance,\N,missense_variant,18.08,0.000172801,EXAC_AMR_AF,POLR1C
718536,6:43488514:T>G,NM_203290.2:c.805+2T>G,\N,\N,7/8,Unknown significance,\N,splice_donor_variant,25.6,0.000060562,EXAC_SAS_AF,POLR1C
718537,6:43488515:A>G,NM_203290.2:c.805+3A>G,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,15.3,0.0000149894,EXAC_NFE_AF,POLR1C
718538,6:43488516:T>C,NM_203290.2:c.805+4T>C,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,4.871,0.000096302,EXAC_AFR_AF,POLR1C
718539,6:43488516:T>G,NM_203290.2:c.805+4T>G,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,6.281,0.000226963,EVS_AA_AF,POLR1C
718540,6:43488523:T>A,NM_203290.2:c.805+11T>A,\N,\N,7/8,Unknown significance,\N,intron_variant,4.578,0.000453926,EVS_AA_AF,POLR1C
718541,6:43488523:T>G,NM_203290.2:c.805+11T>G,\N,\N,7/8,Unknown significance,\N,intron_variant,3.32,0.001,1KG_EAS_AF,POLR1C
718542,6:43488527:A>G,NM_203290.2:c.805+15A>G,\N,\N,7/8,Unknown significance,\N,intron_variant,0.415,0.00068089,EVS_AA_AF,POLR1C
718543,6:43488532:G>C,NM_203290.2:c.805+20G>C,\N,\N,7/8,Unknown significance,\N,intron_variant,0.198,0.0000864454,EXAC_AMR_AF,POLR1C
718544,6:43488535:CA>C,NM_203290.2:c.805+25del,\N,\N,7/8,Benign,\N,intron_variant,2.379,0.1354,1KG_AFR_AF,POLR1C
718545,6:43488540:T>C,NM_203290.2:c.805+28T>C,\N,\N,7/8,Unknown significance,\N,intron_variant,0.532,0.001,1KG_SAS_AF,POLR1C
718546,6:43488546:C>T,NM_203290.2:c.805+34C>T,\N,\N,7/8,Unknown significance,\N,intron_variant,0.248,0.0014,1KG_AMR_AF,POLR1C
718547,6:43488553:A>G,NM_203290.2:c.805+41A>G,\N,\N,7/8,Unknown significance,\N,intron_variant,0.918,0.000116171,EXAC_EAS_AF,POLR1C
718548,6:43488553:A>T,NM_203290.2:c.805+41A>T,\N,\N,7/8,Unknown significance,\N,intron_variant,0.4,0.0000864454,EXAC_AMR_AF,POLR1C
718549,6:43488554:T>C,NM_203290.2:c.805+42T>C,\N,\N,7/8,Unknown significance,\N,intron_variant,0.48,0.000242277,EXAC_SAS_AF,POLR1C
718550,6:43488555:A>G,NM_203290.2:c.805+43A>G,\N,\N,7/8,Unknown significance,\N,intron_variant,1.011,0.0008,1KG_AFR_AF,POLR1C
718551,6:43488560:C>A,NM_203290.2:c.805+48C>A,\N,\N,7/8,Unknown significance,\N,intron_variant,4.593,0.0000864753,EXAC_AMR_AF,POLR1C
718552,6:43488560:C>T,NM_203290.2:c.805+48C>T,\N,\N,7/8,Unknown significance,\N,intron_variant,3.284,0.0000962464,EXAC_AFR_AF,POLR1C
718553,6:43488584:C>T,NM_203290.2:c.805+72C>T,\N,\N,7/8,Unknown significance,\N,intron_variant,6.224,\N,\N,POLR1C
718554,6:43488591:C>T,NM_203290.2:c.805+79C>T,\N,\N,7/8,Unknown significance,\N,intron_variant,0.94,0.0041,1KG_SAS_AF,POLR1C
718555,6:43488631:T>C,NM_203290.2:c.806-39T>C,\N,\N,7/8,Unknown significance,\N,intron_variant,4.344,0.0000149988,EXAC_NFE_AF,POLR1C
718556,6:43488639:G>C,NM_203290.2:c.806-31G>C,\N,\N,7/8,Unknown significance,\N,intron_variant,0.215,0.0000299994,EXAC_NFE_AF,POLR1C
718557,6:43488652:A>G,NM_203290.2:c.806-18A>G,\N,\N,7/8,Unknown significance,\N,intron_variant,2.537,0.000100281,EXAC_AFR_AF,POLR1C
718558,6:43488654:GGTTT>G,NM_203290.2:c.806-12_806-9del,\N,\N,7/8,Unknown significance,\N,intron_variant,17.87,0.000115902,EXAC_EAS_AF,POLR1C
718559,6:43488662:C>T,NM_203290.2:c.806-8C>T,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,14.78,0.00019984,EXAC_AFR_AF,POLR1C
718560,6:43488664:C>T,NM_203290.2:c.806-6C>T,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,15.4,0.0000149975,EXAC_NFE_AF,POLR1C
718561,6:43488667:T>C,NM_203290.2:c.806-3T>C,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,13.38,0.0000864603,EXAC_AMR_AF,POLR1C
718562,6:43488667:T>G,NM_203290.2:c.806-3T>G,\N,\N,7/8,Unknown significance,\N,splice_region_variant&intron_variant,14.45,0.000172921,EXAC_AMR_AF,POLR1C
718563,6:43488670:G>A,NM_001318876.1:c.806G>A,NP_001305805.1:p.Gly269Asp,8/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.7,0.0000605987,EXAC_SAS_AF,POLR1C
718564,6:43488673:A>G,NM_203290.2:c.809A>G,NP_976035.1:p.Lys270Arg,8/9,\N,Unknown significance,\N,missense_variant,17.98,0.0000149934,EXAC_NFE_AF,POLR1C
718565,6:43488687:G>C,NM_203290.2:c.823G>C,NP_976035.1:p.Val275Leu,8/9,\N,Unknown significance,\N,missense_variant,29.9,0.0008,1KG_AFR_AF,POLR1C
718566,6:43488692:C>A,NM_203290.2:c.828C>A,NP_976035.1:p.Ala276=,8/9,\N,Unknown significance,\N,synonymous_variant,16.54,0.0000149849,EXAC_NFE_AF,POLR1C
718567,6:43488694:A>AC,NM_203290.2:c.835dup,NP_976035.1:p.Arg279ProfsTer13,8/9,\N,Unknown significance,\N,frameshift_variant,35,0.0000986193,EXAC_AFR_AF,POLR1C
718568,6:43488694:A>G,NM_203290.2:c.830A>G,NP_976035.1:p.Asn277Ser,8/9,\N,Unknown significance,\N,missense_variant,22.9,0.0000299697,EXAC_NFE_AF,POLR1C
718569,6:43488699:C>T,NM_203290.2:c.835C>T,NP_976035.1:p.Arg279Trp,8/9,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,35,0.00049232,EXAC_AFR_AF,POLR1C
718570,6:43488700:G>A,NM_203290.2:c.836G>A,NP_976035.1:p.Arg279Gln,8/9,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,29.2,0.0014,1KG_AMR_AF,POLR1C
718571,6:43488706:A>T,NM_203290.2:c.842A>T,NP_976035.1:p.Asp281Val,8/9,\N,Unknown significance,\N,missense_variant,28.5,0.000060562,EXAC_SAS_AF,POLR1C
718572,6:43488709:C>G,NM_203290.2:c.845C>G,NP_976035.1:p.Thr282Ser,8/9,\N,Unknown significance,\N,missense_variant,24.3,0.000302389,EXAC_FIN_AF,POLR1C
718573,6:43488727:T>C,NM_203290.2:c.863T>C,NP_976035.1:p.Phe288Ser,8/9,\N,Unknown significance,\N,missense_variant,28.9,0.00193311,EXAC_AFR_AF,POLR1C
718574,6:43488728:C>G,NM_203290.2:c.864C>G,NP_976035.1:p.Phe288Leu,8/9,\N,Unknown significance,\N,missense_variant,12.54,0.000121124,EXAC_SAS_AF,POLR1C
718575,6:43488729:C>T,NM_203290.2:c.865C>T,NP_976035.1:p.Arg289Trp,8/9,\N,Unknown significance,\N,missense_variant,35,0.000060562,EXAC_SAS_AF,POLR1C
718576,6:43488730:G>A,NM_203290.2:c.866G>A,NP_976035.1:p.Arg289Gln,8/9,\N,Unknown significance,\N,missense_variant,33,\N,\N,POLR1C
718577,6:43488737:G>T,NM_203290.2:c.873G>T,NP_976035.1:p.Glu291Asp,8/9,\N,Unknown significance,\N,missense_variant,10.3,0.000116279,EVS_EA_AF,POLR1C
718578,6:43488739:A>G,NM_001318876.1:c.875A>G,NP_001305805.1:p.Lys292Arg,8/9,\N,Unknown significance,\N,missense_variant,19.61,0.000116279,EVS_EA_AF,POLR1C
718579,6:43488743:AAAG>A,NM_203290.2:c.883_885del,NP_976035.1:p.Lys295del,8/9,\N,Unknown significance,\N,inframe_deletion,14.62,\N,\N,POLR1C
718580,6:43488746:G>T,NM_203290.2:c.882G>T,NP_976035.1:p.Lys294Asn,8/9,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,POLR1C
718581,6:43488747:A>G,NM_203290.2:c.883A>G,NP_976035.1:p.Lys295Glu,8/9,\N,Unknown significance,\N,missense_variant,17.8,0.0000961723,EXAC_AFR_AF,POLR1C
718582,6:43488751:T>C,NM_203290.2:c.887T>C,NP_976035.1:p.Val296Ala,8/9,\N,Likely benign,\N,missense_variant,0.117,0.0000863707,EXAC_AMR_AF,POLR1C
718583,6:43488758:G>A,NM_203290.2:c.894G>A,NP_976035.1:p.Arg298=,8/9,\N,Unknown significance,\N,synonymous_variant,9.19,0.00110132,EXAC_OTH_AF,POLR1C
718584,6:43488759:C>T,NM_203290.2:c.895C>T,NP_976035.1:p.Leu299Phe,8/9,\N,Unknown significance,\N,missense_variant,26.2,0.0000863707,EXAC_AMR_AF,POLR1C
718585,6:43488763:C>T,NM_203290.2:c.899C>T,NP_976035.1:p.Ala300Val,8/9,\N,Unknown significance,\N,missense_variant,25,0.001,1KG_SAS_AF,POLR1C
718586,6:43488765:C>T,NM_203290.2:c.901C>T,NP_976035.1:p.Arg301Trp,8/9,\N,Unknown significance,\N,missense_variant,35,0.000115554,EXAC_EAS_AF,POLR1C
718587,6:43488766:G>A,NM_203290.2:c.902G>A,NP_976035.1:p.Arg301Gln,8/9,\N,Unknown significance,\N,missense_variant,34,0.000384468,EXAC_AFR_AF,POLR1C
718588,6:43488771:C>T,NM_203290.2:c.907C>T,NP_976035.1:p.Arg303Ter,8/9,\N,Unknown significance,\N,stop_gained,44,\N,\N,POLR1C
718589,6:43488772:G>A,NM_203290.2:c.908G>A,NP_976035.1:p.Arg303Gln,8/9,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,POLR1C
718590,6:43488777:CATT>C,NM_203290.2:c.916_918del,NP_976035.1:p.Tyr306del,8/9,\N,Unknown significance,\N,inframe_deletion,\N,0.0000149835,EXAC_NFE_AF,POLR1C
718591,6:43488777:CATTAT>C,NM_203290.2:c.916_920del,NP_976035.1:p.Tyr306LeufsTer4,8/9,\N,Unknown significance,\N,frameshift_variant,35,0.0000149835,EXAC_NFE_AF,POLR1C
718592,6:43488777:C>A,NM_203290.2:c.913C>A,NP_976035.1:p.His305Asn,8/9,\N,Unknown significance,\N,missense_variant,29.8,0.000029967,EXAC_NFE_AF,POLR1C
718593,6:43488781:A>G,NM_203290.2:c.917A>G,NP_976035.1:p.Tyr306Cys,8/9,\N,Unknown significance,\N,missense_variant,23.4,0.000226963,EVS_AA_AF,POLR1C
718594,6:43488786:TGTGA>T,NM_203290.2:c.922+3_922+6del,\N,\N,8/8,Pathogenic,Treacher-Collins syndrome,splice_donor_variant&intron_variant,26.4,\N,\N,POLR1C
718595,6:43488787:G>C,NM_203290.2:c.922+1G>C,\N,\N,8/8,Unknown significance,\N,splice_donor_variant,25.6,\N,\N,POLR1C
718596,6:43488788:T>C,NM_203290.2:c.922+2T>C,\N,\N,8/8,Unknown significance,\N,splice_donor_variant,24.9,0.0000149835,EXAC_NFE_AF,POLR1C
718597,6:43488793:A>G,NM_203290.2:c.922+7A>G,\N,\N,8/8,Unknown significance,\N,splice_region_variant&intron_variant,10.7,0.000029967,EXAC_NFE_AF,POLR1C
718598,6:43488798:G>A,NM_203290.2:c.922+12G>A,\N,\N,8/8,Unknown significance,\N,intron_variant,10.5,0.0000149835,EXAC_NFE_AF,POLR1C
718599,6:43488801:G>C,NM_203290.2:c.922+15G>C,\N,\N,8/8,Unknown significance,\N,intron_variant,4.568,0.000151194,EXAC_FIN_AF,POLR1C
718600,6:43488802:T>C,NM_203290.2:c.922+16T>C,\N,\N,8/8,Unknown significance,\N,intron_variant,2.504,0.000524423,EXAC_NFE_AF,POLR1C
718601,6:43488808:G>A,NM_203290.2:c.922+22G>A,\N,\N,8/8,Unknown significance,\N,intron_variant,4.122,0.0000863707,EXAC_AMR_AF,POLR1C
718602,6:43488811:T>C,NM_203290.2:c.922+25T>C,\N,\N,8/8,Unknown significance,\N,intron_variant,0.551,0.0000960984,EXAC_AFR_AF,POLR1C
718603,6:43488814:G>T,NM_203290.2:c.922+28G>T,\N,\N,8/8,Unknown significance,\N,intron_variant,0.119,0.0000863707,EXAC_AMR_AF,POLR1C
718604,6:43488824:T>C,NM_203290.2:c.922+38T>C,\N,\N,8/8,Unknown significance,\N,intron_variant,8.96,0.000115554,EXAC_EAS_AF,POLR1C
718605,6:43488836:C>T,NM_203290.2:c.922+50C>T,\N,\N,8/8,Benign,\N,intron_variant,13.58,0.030814,EVS_EA_AF,POLR1C
718606,6:43488853:T>C,NM_203290.2:c.922+67T>C,\N,\N,8/8,Unknown significance,\N,intron_variant,0.648,0.001,1KG_SAS_AF,POLR1C
718607,6:43488869:A>G,NM_203290.2:c.923-51A>G,\N,\N,8/8,Unknown significance,\N,intron_variant,1.515,0.000115554,EXAC_EAS_AF,POLR1C
718608,6:43488870:A>C,NM_203290.2:c.923-50A>C,\N,\N,8/8,Unknown significance,\N,intron_variant,0.457,0.000060562,EXAC_SAS_AF,POLR1C
718609,6:43488871:G>GT,NM_203290.2:c.923-45dup,\N,\N,8/8,Unknown significance,\N,intron_variant,0.271,0.000259112,EXAC_AMR_AF,POLR1C
718610,6:43488873:T>C,NM_203290.2:c.923-47T>C,\N,\N,8/8,Unknown significance,\N,intron_variant,0.203,0.0000960984,EXAC_AFR_AF,POLR1C
718611,6:43488877:C>T,NM_203290.2:c.923-43C>T,\N,\N,8/8,Unknown significance,\N,intron_variant,0.597,0.0000960984,EXAC_AFR_AF,POLR1C
718612,6:43488889:G>A,NM_203290.2:c.923-31G>A,\N,\N,8/8,Benign,\N,intron_variant,1.213,0.0053,1KG_AFR_AF,POLR1C
718613,6:43488890:CCTAGA>C,NM_203290.2:c.923-26_923-22del,\N,\N,8/8,Benign,\N,intron_variant,5.885,0.0330579,EXAC_AFR_AF,POLR1C
718614,6:43488894:G>T,NM_203290.2:c.923-26G>T,\N,\N,8/8,Benign,\N,intron_variant,0.336,0.045,1KG_SAS_AF,POLR1C
718615,6:43488897:TA>T,NM_203290.2:c.923-20del,\N,\N,8/8,Unknown significance,\N,intron_variant,9.842,0.000029967,EXAC_NFE_AF,POLR1C
718616,6:43488898:A>AAAG,NM_203290.2:c.923-21_923-19dup,\N,\N,8/8,Unknown significance,\N,intron_variant,2.435,\N,\N,POLR1C
718617,6:43488912:G>A,NM_203290.2:c.923-8G>A,\N,\N,8/8,Unknown significance,\N,splice_region_variant&intron_variant,0.374,\N,\N,POLR1C
718618,6:43488914:C>T,NM_203290.2:c.923-6C>T,\N,\N,8/8,Unknown significance,\N,splice_region_variant&intron_variant,7.488,0.000116279,EVS_EA_AF,POLR1C
718619,6:43488915:C>T,NM_203290.2:c.923-5C>T,\N,\N,8/8,Unknown significance,\N,splice_region_variant&intron_variant,10.59,0.0000149835,EXAC_NFE_AF,POLR1C
718620,6:43488921:C>G,NM_203290.2:c.924C>G,NP_976035.1:p.Phe308Leu,9/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.5,0.000029967,EXAC_NFE_AF,POLR1C
718621,6:43488923:C>T,NM_203290.2:c.926C>T,NP_976035.1:p.Ser309Phe,9/9,\N,Unknown significance,\N,missense_variant,31,\N,\N,POLR1C
718622,6:43488925:G>A,NM_203290.2:c.928G>A,NP_976035.1:p.Val310Ile,9/9,\N,Unknown significance,\N,missense_variant,19.56,0.0000149835,EXAC_NFE_AF,POLR1C
718623,6:43488926:T>C,NM_203290.2:c.929T>C,NP_976035.1:p.Val310Ala,9/9,\N,Unknown significance,\N,missense_variant,26.8,0.000115554,EXAC_EAS_AF,POLR1C
718624,6:43488930:G>A,NM_203290.2:c.933G>A,NP_976035.1:p.Glu311=,9/9,\N,Unknown significance,\N,synonymous_variant,9.969,\N,\N,POLR1C
718625,6:43488933:A>G,NM_203290.2:c.936A>G,NP_976035.1:p.Ser312=,9/9,\N,Unknown significance,\N,synonymous_variant,7.739,0.00030281,EXAC_SAS_AF,POLR1C
718626,6:43488934:A>G,NM_203290.2:c.937A>G,NP_976035.1:p.Thr313Ala,9/9,\N,Unknown significance,\N,missense_variant,22.4,0.000014984,EXAC_NFE_AF,POLR1C
718627,6:43488935:C>T,NM_203290.2:c.938C>T,NP_976035.1:p.Thr313Met,9/9,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,POLR1C
718628,6:43488936:G>A,NM_203290.2:c.939G>A,NP_976035.1:p.Thr313=,9/9,\N,Unknown significance,\N,synonymous_variant,11.71,0.0000961169,EXAC_AFR_AF,POLR1C
718629,6:43488938:G>C,NM_203290.2:c.941G>C,NP_976035.1:p.Gly314Ala,9/9,\N,Unknown significance,\N,missense_variant,26.9,0.0000149844,EXAC_NFE_AF,POLR1C
718630,6:43488939:G>C,NM_203290.2:c.942G>C,NP_976035.1:p.Gly314=,9/9,\N,Unknown significance,\N,synonymous_variant,3.782,0.0000899038,EXAC_NFE_AF,POLR1C
718631,6:43488940:G>A,NM_203290.2:c.943G>A,NP_976035.1:p.Val315Met,9/9,\N,Unknown significance,\N,missense_variant,21.7,0.000014984,EXAC_NFE_AF,POLR1C
718632,6:43488945:G>A,NM_203290.2:c.948G>A,NP_976035.1:p.Leu316=,9/9,\N,Unknown significance,\N,synonymous_variant,10.25,0.00060562,EXAC_SAS_AF,POLR1C
718633,6:43488951:A>G,NM_203290.2:c.954A>G,NP_976035.1:p.Pro318=,9/9,\N,Unknown significance,\N,synonymous_variant,6.473,0.0000961169,EXAC_AFR_AF,POLR1C
718634,6:43488976:A>T,NM_203290.2:c.979A>T,NP_976035.1:p.Lys327Ter,9/9,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,45,\N,\N,POLR1C
718635,6:43488980:T>A,NM_203290.2:c.983T>A,NP_976035.1:p.Val328Glu,9/9,\N,Unknown significance,\N,missense_variant,23.6,\N,\N,POLR1C
718636,6:43488983:T>C,NM_203290.2:c.986T>C,NP_976035.1:p.Leu329Pro,9/9,\N,Unknown significance,\N,missense_variant,29.7,0.0000149844,EXAC_NFE_AF,POLR1C
718637,6:43488986:T>TG,NM_203290.2:c.993dup,NP_976035.1:p.Lys332GlufsTer8,9/9,\N,Unknown significance,\N,frameshift_variant,35,0.000060562,EXAC_SAS_AF,POLR1C
718638,6:43488990:G>A,NM_203290.2:c.993G>A,NP_976035.1:p.Gly331=,9/9,\N,Unknown significance,\N,synonymous_variant,11.37,0.000151194,EXAC_FIN_AF,POLR1C
718639,6:43488991:A>C,NM_203290.2:c.994A>C,NP_976035.1:p.Lys332Gln,9/9,\N,Unknown significance,\N,missense_variant,27.9,0.0000863707,EXAC_AMR_AF,POLR1C
718640,6:43488997:C>T,NM_203290.2:c.1000C>T,NP_976035.1:p.Arg334Trp,9/9,\N,Unknown significance,\N,missense_variant,35,0.000226963,EVS_AA_AF,POLR1C
718641,6:43488998:G>A,NM_203290.2:c.1001G>A,NP_976035.1:p.Arg334Gln,9/9,\N,Likely benign,\N,missense_variant,14.11,0.0000863707,EXAC_AMR_AF,POLR1C
718642,6:43489000:C>T,NM_203290.2:c.1003C>T,NP_976035.1:p.Arg335Cys,9/9,\N,Unknown significance,\N,missense_variant,34,0.000115554,EXAC_EAS_AF,POLR1C
718643,6:43489001:G>A,NM_203290.2:c.1004G>A,NP_976035.1:p.Arg335His,9/9,\N,Unknown significance,\N,missense_variant,23.6,0.000104903,EXAC_NFE_AF,POLR1C
718644,6:43489008:G>A,NM_203290.2:c.1011G>A,NP_976035.1:p.Leu337=,9/9,\N,Unknown significance,\N,synonymous_variant,11.27,0.000060562,EXAC_SAS_AF,POLR1C
718645,6:43489015:C>G,NM_203290.2:c.1018C>G,NP_976035.1:p.Leu340Val,9/9,\N,Unknown significance,\N,missense_variant,22.6,0.0000149862,EXAC_NFE_AF,POLR1C
718646,6:43489021:G>A,NM_203290.2:c.1024G>A,NP_976035.1:p.Ala342Thr,9/9,\N,Unknown significance,\N,missense_variant,16.08,0.0000149862,EXAC_NFE_AF,POLR1C
718647,6:43489022:C>T,NM_203290.2:c.1025C>T,NP_976035.1:p.Ala342Val,9/9,\N,Unknown significance,\N,missense_variant,23.2,0.00136178,EVS_AA_AF,POLR1C
718648,6:43489023:G>A,NM_203290.2:c.1026G>A,NP_976035.1:p.Ala342=,9/9,\N,Unknown significance,\N,synonymous_variant,15.27,0.0000299733,EXAC_NFE_AF,POLR1C
718649,6:43489023:G>C,NM_203290.2:c.1026G>C,NP_976035.1:p.Ala342=,9/9,\N,Unknown significance,\N,synonymous_variant,13.38,0.0000149867,EXAC_NFE_AF,POLR1C
718650,6:43489024:G>T,NM_203290.2:c.1027G>T,NP_976035.1:p.Val343Phe,9/9,\N,Unknown significance,\N,missense_variant,22.4,0.0000149862,EXAC_NFE_AF,POLR1C
718651,6:43489027:C>T,NM_203290.2:c.1030C>T,NP_976035.1:p.Gln344Ter,9/9,\N,Unknown significance,\N,stop_gained,40,0.0000149862,EXAC_NFE_AF,POLR1C
718652,6:43489029:G>C,NM_203290.2:c.1032G>C,NP_976035.1:p.Gln344His,9/9,\N,Unknown significance,\N,missense_variant,20.8,0.000060562,EXAC_SAS_AF,POLR1C
718653,6:43489039:G>A,NM_203290.2:c.*1G>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,7.491,0.0000299724,EXAC_NFE_AF,POLR1C
718654,6:43489041:T>C,NM_203290.2:c.*3T>C,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,6.944,\N,\N,POLR1C
718655,6:43489043:G>A,NM_203290.2:c.*5G>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,5.326,0.000226963,EVS_AA_AF,POLR1C
718656,6:43489068:T>C,NM_203290.2:c.*30T>C,\N,9/9,\N,Benign,\N,3_prime_UTR_variant,11.68,0.0123979,EXAC_FIN_AF,POLR1C
718657,6:43489073:G>A,NM_203290.2:c.*35G>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,10.46,0.000121124,EXAC_SAS_AF,POLR1C
718658,6:43489080:C>A,NM_203290.2:c.*42C>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,7.18,0.000060562,EXAC_SAS_AF,POLR1C
718659,6:43489083:A>AC,NM_203290.2:c.*48dup,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,2.028,\N,\N,POLR1C
718660,6:43489094:A>G,NM_203290.2:c.*56A>G,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,9.629,\N,\N,POLR1C
718661,6:43489130:T>G,NM_203290.2:c.*92T>G,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,4.484,0.002,1KG_EUR_AF,POLR1C
718662,6:43489141:C>T,NM_203290.2:c.*103C>T,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,10.67,\N,\N,POLR1C
718663,6:43489143:G>C,NM_203290.2:c.*105G>C,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,7.572,0.0014,1KG_AMR_AF,POLR1C
718664,6:43489180:T>C,NM_203290.2:c.*142T>C,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,19.86,\N,\N,POLR1C
718665,6:43489205:G>A,NM_203290.2:c.*167G>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,15.43,\N,\N,POLR1C
718666,6:43489211:A>G,NM_203290.2:c.*173A>G,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,14.64,\N,\N,POLR1C
718667,6:43489240:C>A,NM_203290.2:c.*202C>A,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,0.785,\N,\N,POLR1C
718668,6:43489244:C>CA,NM_203290.3:c.*213dup,\N,9/9,\N,Unknown significance,\N,3_prime_UTR_variant,4.953,0.0031,1KG_SAS_AF,POLR1