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
198986,10:102747313:A>G,NM_021830.4:c.-655A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.241,0.0029,1KG_AMR_AF,C10orf2
198987,10:102747318:A>G,NM_021830.4:c.-650A>G,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,6.424,0.0072,1KG_AMR_AF,C10orf2
198988,10:102747323:C>T,NM_021830.4:c.-645C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.693,0.0008,1KG_AFR_AF,C10orf2
198989,10:102747363:G>T,NM_021830.4:c.-605G>T,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,5.207,0.5526,1KG_EAS_AF,C10orf2
198990,10:102747376:C>T,NM_001163813.1:c.-120+6C>T,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,7.287,\N,\N,C10orf2
198991,10:102747390:C>T,NM_021830.4:c.-578C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,10.1,\N,\N,C10orf2
198992,10:102747395:C>T,NM_021830.4:c.-573C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.64,\N,\N,C10orf2
198993,10:102747416:A>G,NM_021830.4:c.-552A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,3.687,\N,\N,C10orf2
198994,10:102747422:G>T,NM_021830.4:c.-546G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.206,0.0031,1KG_SAS_AF,C10orf2
198995,10:102747438:G>A,NM_021830.4:c.-530G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.388,\N,\N,C10orf2
198996,10:102747447:CTGGCATTCCTTTGGGCCGGGGGAT>C,NM_021830.4:c.-516_-493del,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.066,\N,\N,C10orf2
198997,10:102747462:G>A,NM_021830.4:c.-506G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.897,0.002,1KG_EUR_AF,C10orf2
198998,10:102747476:G>T,NM_021830.4:c.-492G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,3.336,0.001,1KG_SAS_AF,C10orf2
198999,10:102747479:A>G,NM_021830.4:c.-489A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,3.398,\N,\N,C10orf2
199000,10:102747481:T>C,NM_021830.4:c.-487T>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,5.555,\N,\N,C10orf2
199001,10:102747486:C>T,NM_021830.4:c.-482C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,5.76,\N,\N,C10orf2
199002,10:102747508:G>T,NM_021830.4:c.-460G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.913,\N,\N,C10orf2
199003,10:102747533:G>A,NM_021830.4:c.-435G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.775,0.001,1KG_EUR_AF,C10orf2
199004,10:102747536:A>C,NM_021830.4:c.-432A>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.314,0.0014,1KG_AMR_AF,C10orf2
199005,10:102747550:C>T,NM_021830.4:c.-418C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.005,\N,\N,C10orf2
199006,10:102747564:A>C,NM_021830.4:c.-404A>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,4.289,0.0008,1KG_AFR_AF,C10orf2
199007,10:102747586:G>A,NM_021830.4:c.-382G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,11.27,0.002,1KG_EAS_AF,C10orf2
199008,10:102747588:T>A,NM_021830.4:c.-380T>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,11.44,0.001,1KG_SAS_AF,C10orf2
199009,10:102747618:G>C,NM_021830.4:c.-350G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.875,\N,\N,C10orf2
199010,10:102747660:CTG>C,NM_021830.4:c.-304_-303del,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,5.824,0.0106,1KG_AFR_AF,C10orf2
199011,10:102747664:G>A,NM_021830.4:c.-304G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,5.819,\N,\N,C10orf2
199012,10:102747678:G>C,NM_021830.4:c.-290G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,5.557,0.002,1KG_EUR_AF,C10orf2
199013,10:102747687:G>A,NM_021830.4:c.-281G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.462,0.0014,1KG_AMR_AF,C10orf2
199014,10:102747701:G>A,NM_021830.4:c.-267G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,10.33,0.001,1KG_SAS_AF,C10orf2
199015,10:102747712:AAACT>A,NM_021830.4:c.-248_-245del,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,14.45,0.003,1KG_AFR_AF,C10orf2
199016,10:102747716:T>A,NM_021830.4:c.-252T>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,14.38,0.0015,1KG_AFR_AF,C10orf2
199017,10:102747727:C>T,NM_021830.4:c.-241C>T,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,8.679,0.0204,1KG_AFR_AF,C10orf2
199018,10:102747756:G>A,NM_021830.4:c.-212G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.609,0.0008,1KG_AFR_AF,C10orf2
199019,10:102747766:C>G,NM_021830.4:c.-202C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.789,\N,\N,C10orf2
199020,10:102747838:G>A,NM_021830.4:c.-130G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.257,\N,\N,C10orf2
199021,10:102747851:C>T,NM_021830.4:c.-117C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.942,0.001,1KG_SAS_AF,C10orf2
199022,10:102747853:T>C,NM_021830.4:c.-115T>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.678,0.0015,1KG_AFR_AF,C10orf2
199023,10:102747859:G>A,NM_021830.4:c.-109G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,11.24,\N,\N,C10orf2
199024,10:102747928:T>A,NM_021830.4:c.-40T>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,1.17,0.0000300951,EXAC_NFE_AF,C10orf2
199025,10:102747930:A>C,NM_021830.4:c.-38A>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.259,0.0000864454,EXAC_AMR_AF,C10orf2
199026,10:102747938:C>A,NM_021830.4:c.-30C>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.583,0.000121139,EXAC_SAS_AF,C10orf2
199027,10:102747940:A>G,NM_021830.4:c.-28A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,1.257,0.0000605694,EXAC_SAS_AF,C10orf2
199028,10:102747945:T>C,NM_021830.4:c.-23T>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.548,0.000115875,EXAC_EAS_AF,C10orf2
199029,10:102747947:A>G,NM_021830.4:c.-21A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.225,0.000115875,EXAC_EAS_AF,C10orf2
199030,10:102747952:C>G,NM_021830.4:c.-16C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.269,0.0000150448,EXAC_NFE_AF,C10orf2
199031,10:102747955:C>T,NM_021830.4:c.-13C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.487,0.000115848,EXAC_EAS_AF,C10orf2
199032,10:102747956:A>G,NM_021830.4:c.-12A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.063,0.0000150421,EXAC_NFE_AF,C10orf2
199033,10:102747962:C>T,NM_021830.4:c.-6C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,0.136,0.0000963577,EXAC_AFR_AF,C10orf2
199034,10:102747977:C>T,NM_021830.4:c.10C>T,NP_068602.2:p.Leu4Phe,1/5,\N,Likely benign,\N,missense_variant,0.002,0.000015039,EXAC_NFE_AF,C10orf2
199035,10:102747979:C>A,NM_021830.4:c.12C>A,NP_068602.2:p.Leu4=,1/5,\N,Unknown significance,\N,synonymous_variant,2.336,0.000015039,EXAC_NFE_AF,C10orf2
199036,10:102747994:C>A,NM_021830.4:c.27C>A,NP_068602.2:p.Tyr9Ter,1/5,\N,Unknown significance,\N,stop_gained,34,\N,\N,C10orf2
199037,10:102747996:C>A,NM_021830.4:c.29C>A,NP_068602.2:p.Pro10His,1/5,\N,Likely benign,\N,missense_variant,13.83,0.0000864902,EXAC_AMR_AF,C10orf2
199038,10:102747997:C>G,NM_021830.4:c.30C>G,NP_068602.2:p.Pro10=,1/5,\N,Unknown significance,\N,synonymous_variant,3.136,0.000242248,EXAC_SAS_AF,C10orf2
199039,10:102747997:C>T,NM_021830.4:c.30C>T,NP_068602.2:p.Pro10=,1/5,\N,Unknown significance,\N,synonymous_variant,7.625,0.00017298,EXAC_AMR_AF,C10orf2
199040,10:102747999:T>A,NM_021830.4:c.32T>A,NP_068602.2:p.Leu11His,1/5,\N,Likely benign,\N,missense_variant,5.851,0.0000150494,EXAC_NFE_AF,C10orf2
199041,10:102748012:A>ACC,NM_021830.4:c.48_49dup,NP_068602.2:p.Leu17ProfsTer40,1/5,\N,Unknown significance,\N,frameshift_variant,22,\N,\N,C10orf2
199042,10:102748017:T>A,NM_021830.4:c.50T>A,NP_068602.2:p.Leu17Gln,1/5,\N,Likely benign,\N,missense_variant,11.53,0.000060562,EXAC_SAS_AF,C10orf2
199043,10:102748023:G>A,NM_021830.4:c.56G>A,NP_068602.2:p.Gly19Glu,1/5,\N,Likely benign,\N,missense_variant,8.676,0.0000302398,EXAC_NFE_AF,C10orf2
199044,10:102748027:G>A,NM_021830.4:c.60G>A,NP_068602.2:p.Glu20=,1/5,\N,Unknown significance,\N,synonymous_variant,0.141,0.000181686,EXAC_SAS_AF,C10orf2
199045,10:102748032:T>G,NM_021830.4:c.65T>G,NP_068602.2:p.Met22Arg,1/5,\N,Likely benign,\N,missense_variant,9.702,\N,\N,C10orf2
199046,10:102748035:GTC>G,NM_021830.4:c.69_70del,NP_068602.2:p.Arg24GlufsTer35,1/5,\N,Unknown significance,\N,frameshift_variant,19.52,\N,\N,C10orf2
199047,10:102748036:T>C,NM_021830.4:c.69T>C,NP_068602.2:p.Gly23=,1/5,\N,Unknown significance,\N,synonymous_variant,0.004,\N,\N,C10orf2
199048,10:102748036:T>G,NM_021830.4:c.69T>G,NP_068602.2:p.Gly23=,1/5,\N,Benign,\N,synonymous_variant,0.052,0.0972,1KG_EAS_AF,C10orf2
199049,10:102748037:C>G,NM_021830.4:c.70C>G,NP_068602.2:p.Arg24Gly,1/5,\N,Likely benign,\N,missense_variant,6.392,\N,\N,C10orf2
199050,10:102748040:A>G,NM_021830.4:c.73A>G,NP_068602.2:p.Arg25Gly,1/5,\N,Unknown significance,\N,missense_variant,10.06,\N,\N,C10orf2
199051,10:102748042:G>A,NM_021830.4:c.75G>A,NP_068602.2:p.Arg25=,1/5,\N,Unknown significance,\N,synonymous_variant,0.083,0.001,1KG_EAS_AF,C10orf2
199052,10:102748043:G>A,NM_021830.4:c.76G>A,NP_068602.2:p.Gly26Ser,1/5,\N,Benign,\N,missense_variant,2.69,0.0051,1KG_SAS_AF,C10orf2
199053,10:102748044:G>C,NM_021830.4:c.77G>C,NP_068602.2:p.Gly26Ala,1/5,\N,Unknown significance,\N,missense_variant,0.007,\N,\N,C10orf2
199054,10:102748044:G>GGC,NM_021830.4:c.77_78insGC,NP_068602.2:p.Leu27ProfsTer30,1/5,\N,Unknown significance,\N,frameshift_variant,24.2,\N,\N,C10orf2
199055,10:102748044:G>T,NM_021830.4:c.77G>T,NP_068602.2:p.Gly26Val,1/5,\N,Unknown significance,\N,missense_variant,18.34,\N,\N,C10orf2
199056,10:102748052:C>T,NM_021830.4:c.85C>T,NP_068602.2:p.Arg29Ter,1/5,\N,Pathogenic,Cholestatic liver disease in infancy,stop_gained,29.6,\N,\N,C10orf2
199057,10:102748058:T>A,NM_021830.4:c.91T>A,NP_068602.2:p.Leu31Met,1/5,\N,Likely benign,\N,missense_variant,0.02,0.000115794,EXAC_EAS_AF,C10orf2
199058,10:102748060:G>T,NM_021830.4:c.93G>T,NP_068602.2:p.Leu31Phe,1/5,\N,Likely benign,\N,missense_variant,0.007,0.000060562,EXAC_SAS_AF,C10orf2
199059,10:102748063:C>T,NM_021830.4:c.96C>T,NP_068602.2:p.Ala32=,1/5,\N,Unknown significance,\N,synonymous_variant,6.772,0.0000965251,EXAC_AFR_AF,C10orf2
199060,10:102748065:C>T,NM_021830.4:c.98C>T,NP_068602.2:p.Pro33Leu,1/5,\N,Likely benign,\N,missense_variant,3.67,0.000015039,EXAC_NFE_AF,C10orf2
199061,10:102748067:G>A,NM_021830.4:c.100G>A,NP_068602.2:p.Gly34Ser,1/5,\N,Unknown significance,\N,missense_variant,12.48,0.000060562,EXAC_SAS_AF,C10orf2
199062,10:102748078:C>A,NM_021830.4:c.111C>A,NP_068602.2:p.Arg37=,1/5,\N,Unknown significance,\N,synonymous_variant,6.088,0.000115714,EXAC_EAS_AF,C10orf2
199063,10:102748082:C>T,NM_021830.4:c.115C>T,NP_068602.2:p.Arg39Cys,1/5,\N,Likely benign,\N,missense_variant,10.77,0.000116279,EVS_EA_AF,C10orf2
199064,10:102748106:G>C,NM_021830.4:c.139G>C,NP_068602.2:p.Ala47Pro,1/5,\N,Likely benign,\N,missense_variant,2.233,0.0000864006,EXAC_AMR_AF,C10orf2
199065,10:102748113:A>T,NM_021830.4:c.146A>T,NP_068602.2:p.Asp49Val,1/5,\N,Unknown significance,\N,missense_variant,16.27,0.0000300066,EXAC_NFE_AF,C10orf2
199066,10:102748120:A>G,NM_021830.4:c.153A>G,NP_068602.2:p.Pro51=,1/5,\N,Unknown significance,\N,synonymous_variant,0.005,0.000015002,EXAC_NFE_AF,C10orf2
199067,10:102748136:G>A,NM_021830.4:c.169G>A,NP_068602.2:p.Ala57Thr,1/5,\N,Likely benign,\N,missense_variant,0.002,0.000288739,EXAC_AFR_AF,C10orf2
199068,10:102748153:G>A,NM_021830.4:c.186G>A,NP_068602.2:p.Gln62=,1/5,\N,Unknown significance,\N,synonymous_variant,0.166,0.0000605694,EXAC_SAS_AF,C10orf2
199069,10:102748160:C>T,NM_021830.4:c.193C>T,NP_068602.2:p.Arg65Trp,1/5,\N,Unknown significance,\N,missense_variant,31,0.000231214,EXAC_EAS_AF,C10orf2
199070,10:102748161:G>T,NM_021830.4:c.194G>T,NP_068602.2:p.Arg65Leu,1/5,\N,Unknown significance,\N,missense_variant,28.9,0.000115607,EXAC_EAS_AF,C10orf2
199071,10:102748163:G>A,NM_021830.4:c.196G>A,NP_068602.2:p.Gly66Arg,1/5,\N,Likely benign,\N,missense_variant,7.007,0.0000149984,EXAC_NFE_AF,C10orf2
199072,10:102748165:G>A,NM_021830.4:c.198G>A,NP_068602.2:p.Gly66=,1/5,\N,Unknown significance,\N,synonymous_variant,0.723,0.0000149979,EXAC_NFE_AF,C10orf2
199073,10:102748167:A>G,NM_021830.4:c.200A>G,NP_068602.2:p.His67Arg,1/5,\N,Likely benign,\N,missense_variant,0.001,0.000115607,EXAC_EAS_AF,C10orf2
199074,10:102748171:G>A,NM_021830.4:c.204G>A,NP_068602.2:p.Gly68=,1/5,\N,Unknown significance,\N,synonymous_variant,3.373,0.000060562,EXAC_SAS_AF,C10orf2
199075,10:102748174:C>T,NM_021830.4:c.207C>T,NP_068602.2:p.Ile69=,1/5,\N,Unknown significance,\N,synonymous_variant,10.77,0.002,1KG_EAS_AF,C10orf2
199076,10:102748200:T>G,NM_021830.4:c.233T>G,NP_068602.2:p.Leu78Arg,1/5,\N,Unknown significance,\N,missense_variant,24,0.000015002,EXAC_NFE_AF,C10orf2
199077,10:102748205:G>A,NM_021830.4:c.238G>A,NP_068602.2:p.Ala80Thr,1/5,\N,Likely benign,\N,missense_variant,0.007,0.000232558,EVS_EA_AF,C10orf2
199078,10:102748208:C>G,NM_021830.4:c.241C>G,NP_068602.2:p.Leu81Val,1/5,\N,Likely benign,\N,missense_variant,4.435,0.00127907,EVS_EA_AF,C10orf2
199079,10:102748214:C>T,NM_021830.4:c.247C>T,NP_068602.2:p.Pro83Ser,1/5,\N,Pathogenic,Spirocerebellar ataxia| infantile onset,missense_variant,23.4,\N,\N,C10orf2
199080,10:102748235:C>G,NM_021830.4:c.268C>G,NP_068602.2:p.Leu90Val,1/5,\N,Likely benign,\N,missense_variant,0.002,0.0000300147,EXAC_NFE_AF,C10orf2
199081,10:102748237:C>G,NM_021830.4:c.270C>G,NP_068602.2:p.Leu90=,1/5,\N,Unknown significance,\N,synonymous_variant,0.071,0.0000150092,EXAC_NFE_AF,C10orf2
199082,10:102748247:A>G,NM_021830.4:c.280A>G,NP_068602.2:p.Thr94Ala,1/5,\N,Likely benign,\N,missense_variant,0.001,0.0000964692,EXAC_AFR_AF,C10orf2
199083,10:102748251:G>C,NM_021830.4:c.284G>C,NP_068602.2:p.Gly95Ala,1/5,\N,Likely benign,\N,missense_variant,0.001,0.000226963,EVS_AA_AF,C10orf2
199084,10:102748257:C>G,NM_021830.4:c.290C>G,NP_068602.2:p.Thr97Ser,1/5,\N,Likely benign,\N,missense_variant,0.001,0.0000150186,EXAC_NFE_AF,C10orf2
199085,10:102748263:C>A,NM_021830.4:c.296C>A,NP_068602.2:p.Ser99Tyr,1/5,\N,Unknown significance,\N,missense_variant,24,0.000121183,EXAC_SAS_AF,C10orf2
199086,10:102748263:C>T,NM_021830.4:c.296C>T,NP_068602.2:p.Ser99Phe,1/5,\N,Unknown significance,\N,missense_variant,24.2,0.0000150218,EXAC_NFE_AF,C10orf2
199087,10:102748288:C>T,NM_021830.4:c.321C>T,NP_068602.2:p.Thr107=,1/5,\N,Unknown significance,\N,synonymous_variant,9.075,0.0000606208,EXAC_SAS_AF,C10orf2
199088,10:102748294:C>T,NM_021830.4:c.327C>T,NP_068602.2:p.Gly109=,1/5,\N,Unknown significance,\N,synonymous_variant,10.69,0.0000301005,EXAC_NFE_AF,C10orf2
199089,10:102748305:G>C,NM_021830.4:c.338G>C,NP_068602.2:p.Cys113Ser,1/5,\N,Likely pathogenic,\N,missense_variant,24.7,\N,\N,C10orf2
199090,10:102748307:A>T,NM_021830.4:c.340A>T,NP_068602.2:p.Met114Leu,1/5,\N,Likely benign,\N,missense_variant,11.54,\N,\N,C10orf2
199091,10:102748308:T>G,NM_021830.4:c.341T>G,NP_068602.2:p.Met114Arg,1/5,\N,Unknown significance,\N,missense_variant,8.474,0.0000903832,EXAC_NFE_AF,C10orf2
199092,10:102748320:C>A,NM_021830.4:c.353C>A,NP_068602.2:p.Ala118Glu,1/5,\N,Unknown significance,\N,missense_variant,23.7,0.00024266,EXAC_SAS_AF,C10orf2
199093,10:102748342:C>A,NM_021830.4:c.375C>A,NP_068602.2:p.Phe125Leu,1/5,\N,Likely benign,\N,missense_variant,7.118,0.000015088,EXAC_NFE_AF,C10orf2
199094,10:102748348:C>T,NM_021830.4:c.381C>T,NP_068602.2:p.Ala127=,1/5,\N,Unknown significance,\N,synonymous_variant,7.839,0.000226963,EVS_AA_AF,C10orf2
199095,10:102748351:C>T,NM_021830.4:c.384C>T,NP_068602.2:p.Ser128=,1/5,\N,Unknown significance,\N,synonymous_variant,11.41,0.003,1KG_AFR_AF,C10orf2
199096,10:102748352:G>A,NM_021830.4:c.385G>A,NP_068602.2:p.Val129Met,1/5,\N,Unknown significance,\N,missense_variant,16.66,0.0000452871,EXAC_NFE_AF,C10orf2
199097,10:102748362:G>A,NM_021830.4:c.395G>A,NP_068602.2:p.Arg132Gln,1/5,\N,Likely benign,\N,missense_variant,0.011,0.0000607238,EXAC_SAS_AF,C10orf2
199098,10:102748364:G>A,NM_021830.4:c.397G>A,NP_068602.2:p.Gly133Arg,1/5,\N,Likely benign,\N,missense_variant,4.539,0.0000867152,EXAC_AMR_AF,C10orf2
199099,10:102748367:G>A,NM_021830.4:c.400G>A,NP_068602.2:p.Asp134Asn,1/5,\N,Unknown significance,\N,missense_variant,10.95,\N,\N,C10orf2
199100,10:102748371:G>A,NM_021830.4:c.404G>A,NP_068602.2:p.Gly135Glu,1/5,\N,Likely benign,\N,missense_variant,0.001,0.000116279,EVS_EA_AF,C10orf2
199101,10:102748373:G>C,NM_021830.4:c.406G>C,NP_068602.2:p.Ala136Pro,1/5,\N,Likely benign,\N,missense_variant,0.013,0.0000989315,EXAC_AFR_AF,C10orf2
199102,10:102748384:G>A,NM_021830.4:c.417G>A,NP_068602.2:p.Gly139=,1/5,\N,Unknown significance,\N,synonymous_variant,0.011,0.0000150893,EXAC_NFE_AF,C10orf2
199103,10:102748401:C>T,NM_021830.4:c.434C>T,NP_068602.2:p.Ala145Val,1/5,\N,Likely benign,\N,missense_variant,0.173,0.000907853,EVS_AA_AF,C10orf2
199104,10:102748420:C>T,NM_021830.4:c.453C>T,NP_068602.2:p.Ser151=,1/5,\N,Unknown significance,\N,synonymous_variant,8.114,0.0014,1KG_AMR_AF,C10orf2
199105,10:102748421:G>C,NM_021830.4:c.454G>C,NP_068602.2:p.Glu152Gln,1/5,\N,Unknown significance,\N,missense_variant,14.3,\N,\N,C10orf2
199106,10:102748428:T>A,NM_021830.4:c.461T>A,NP_068602.2:p.Val154Asp,1/5,\N,Unknown significance,\N,missense_variant,24.7,0.000116279,EVS_EA_AF,C10orf2
199107,10:102748430:C>T,NM_021830.4:c.463C>T,NP_068602.2:p.Arg155Trp,1/5,\N,Unknown significance,\N,missense_variant,23.2,0.0008,1KG_AFR_AF,C10orf2
199108,10:102748433:A>C,NM_021830.4:c.466A>C,NP_068602.2:p.Arg156=,1/5,\N,Unknown significance,\N,synonymous_variant,0.023,0.000115929,EXAC_EAS_AF,C10orf2
199109,10:102748435:G>C,NM_021830.4:c.468G>C,NP_068602.2:p.Arg156Ser,1/5,\N,Unknown significance,\N,missense_variant,5.898,0.0000606355,EXAC_SAS_AF,C10orf2
199110,10:102748446:G>A,NM_001163812.1:c.479G>A,NP_001157284.1:p.Arg160Gln,1/5,\N,Unknown significance,\N,missense_variant,18.69,0.00110865,EXAC_OTH_AF,C10orf2
199111,10:102748451:A>G,NM_021830.4:c.484A>G,NP_068602.2:p.Ile162Val,1/5,\N,Likely benign,\N,missense_variant,0.001,0.000666667,EXAC_SAS_AF,C10orf2
199112,10:102748459:C>T,NM_021830.4:c.492C>T,NP_068602.2:p.Leu164=,1/5,\N,Unknown significance,\N,synonymous_variant,3.817,0.00231535,EXAC_EAS_AF,C10orf2
199113,10:102748466:C>G,NM_021830.4:c.499C>G,NP_068602.2:p.Leu167Val,1/5,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,C10orf2
199114,10:102748470:C>G,NM_001163812.1:c.503C>G,NP_001157284.1:p.Pro168Arg,1/5,\N,Unknown significance,\N,missense_variant,6.181,0.000226963,EVS_AA_AF,C10orf2
199115,10:102748472:G>GTGGATATGCCAGTGTTGCCTGTA,NM_021830.4:c.505_506insTGGATATGCCAGTGTTGCCTGTA,NP_068602.2:p.Asp169ValfsTer59,1/5,\N,Unknown significance,\N,frameshift_variant,25.5,\N,\N,C10orf2
199116,10:102748482:A>C,NM_001163812.1:c.515A>C,NP_001157284.1:p.Glu172Ala,1/5,\N,Unknown significance,\N,missense_variant,13.61,0.00110619,EXAC_OTH_AF,C10orf2
199117,10:102748484:G>C,NM_021830.4:c.517G>C,NP_068602.2:p.Val173Leu,1/5,\N,Likely benign,\N,missense_variant,0.008,0.0000150056,EXAC_NFE_AF,C10orf2
199118,10:102748487:C>G,NM_021830.4:c.520C>G,NP_068602.2:p.Gln174Glu,1/5,\N,Likely benign,\N,missense_variant,0.006,0.0000150051,EXAC_NFE_AF,C10orf2
199119,10:102748489:G>C,NM_021830.4:c.522G>C,NP_068602.2:p.Gln174His,1/5,\N,Likely benign,\N,missense_variant,8.522,0.0000150042,EXAC_NFE_AF,C10orf2
199120,10:102748493:G>A,NM_021830.4:c.526G>A,NP_068602.2:p.Ala176Thr,1/5,\N,Unknown significance,\N,missense_variant,0.269,0.0014,1KG_AMR_AF,C10orf2
199121,10:102748496:GA>G,NM_021830.4:c.530del,NP_068602.2:p.Asp177ValfsTer43,1/5,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,C10orf2
199122,10:102748500:C>G,NM_021830.4:c.533C>G,NP_068602.2:p.Thr178Arg,1/5,\N,Likely benign,\N,missense_variant,0.009,0.0000605767,EXAC_SAS_AF,C10orf2
199123,10:102748502:A>G,NM_021830.4:c.535A>G,NP_068602.2:p.Met179Val,1/5,\N,Unknown significance,\N,missense_variant,0.113,0.000226963,EVS_AA_AF,C10orf2
199124,10:102748509:G>A,NM_021830.4:c.542G>A,NP_068602.2:p.Gly181Asp,1/5,\N,Unknown significance,\N,missense_variant,12.3,0.0000149952,EXAC_NFE_AF,C10orf2
199125,10:102748515:C>G,NM_021830.4:c.548C>G,NP_068602.2:p.Thr183Ser,1/5,\N,Likely benign,\N,missense_variant,0.027,0.000014993,EXAC_NFE_AF,C10orf2
199126,10:102748515:C>T,NM_021830.4:c.548C>T,NP_068602.2:p.Thr183Ile,1/5,\N,Likely benign,\N,missense_variant,9.918,0.000121153,EXAC_SAS_AF,C10orf2
199127,10:102748518:A>G,NM_021830.4:c.551A>G,NP_068602.2:p.Lys184Arg,1/5,\N,Likely benign,\N,missense_variant,0.386,0.0000149916,EXAC_NFE_AF,C10orf2
199128,10:102748519:G>A,NM_021830.4:c.552G>A,NP_068602.2:p.Lys184=,1/5,\N,Unknown significance,\N,synonymous_variant,0.99,0.0000864454,EXAC_AMR_AF,C10orf2
199129,10:102748526:G>T,NM_001163812.1:c.559G>T,NP_001157284.1:p.Asp187Tyr,1/5,\N,Unknown significance,\N,missense_variant,25.1,0.0000149894,EXAC_NFE_AF,C10orf2
199130,10:102748529:G>A,NM_021830.4:c.562G>A,NP_068602.2:p.Asp188Asn,1/5,\N,Unknown significance,\N,missense_variant,14.03,0.000226963,EVS_AA_AF,C10orf2
199131,10:102748533:C>T,NM_021830.4:c.566C>T,NP_068602.2:p.Thr189Ile,1/5,\N,Unknown significance,\N,missense_variant,25.9,0.000226963,EVS_AA_AF,C10orf2
199132,10:102748540:G>A,NM_021830.4:c.573G>A,NP_068602.2:p.Lys191=,1/5,\N,Unknown significance,\N,synonymous_variant,6.326,0.000226963,EVS_AA_AF,C10orf2
199133,10:102748546:C>T,NM_021830.4:c.579C>T,NP_068602.2:p.Phe193=,1/5,\N,Unknown significance,\N,synonymous_variant,4.976,0.0000864155,EXAC_AMR_AF,C10orf2
199134,10:102748558:T>C,NM_021830.4:c.591T>C,NP_068602.2:p.Tyr197=,1/5,\N,Unknown significance,\N,synonymous_variant,0.004,0.00011558,EXAC_EAS_AF,C10orf2
199135,10:102748569:C>T,NM_021830.4:c.602C>T,NP_068602.2:p.Ala201Val,1/5,\N,Unknown significance,\N,missense_variant,16.9,0.0000863856,EXAC_AMR_AF,C10orf2
199136,10:102748571:C>A,NM_021830.4:c.604C>A,NP_068602.2:p.Arg202Ser,1/5,\N,Unknown significance,\N,missense_variant,13.28,0.0000149853,EXAC_NFE_AF,C10orf2
199137,10:102748571:C>T,NM_021830.4:c.604C>T,NP_068602.2:p.Arg202Cys,1/5,\N,Unknown significance,\N,missense_variant,20.3,0.0000863856,EXAC_AMR_AF,C10orf2
199138,10:102748572:G>A,NM_021830.4:c.605G>A,NP_068602.2:p.Arg202His,1/5,\N,Unknown significance,\N,missense_variant,18.55,0.000060562,EXAC_SAS_AF,C10orf2
199139,10:102748574:A>C,NM_021830.4:c.607A>C,NP_068602.2:p.Ser203Arg,1/5,\N,Unknown significance,\N,missense_variant,14.13,\N,\N,C10orf2
199140,10:102748578:T>G,NM_021830.4:c.611T>G,NP_068602.2:p.Leu204Arg,1/5,\N,Unknown significance,\N,missense_variant,25.7,\N,\N,C10orf2
199141,10:102748579:T>C,NM_021830.4:c.612T>C,NP_068602.2:p.Leu204=,1/5,\N,Unknown significance,\N,synonymous_variant,0.075,0.0000864006,EXAC_AMR_AF,C10orf2
199142,10:102748598:C>T,NM_021830.4:c.631C>T,NP_068602.2:p.Pro211Ser,1/5,\N,Likely benign,\N,missense_variant,10.69,0.000121124,EXAC_SAS_AF,C10orf2
199143,10:102748601:G>A,NM_021830.4:c.634G>A,NP_068602.2:p.Gly212Arg,1/5,\N,Likely benign,\N,missense_variant,0.123,0.002,1KG_EAS_AF,C10orf2
199144,10:102748606:C>T,NM_021830.4:c.639C>T,NP_068602.2:p.Gly213=,1/5,\N,Likely benign,\N,synonymous_variant,2.035,0.00241984,EXAC_FIN_AF,C10orf2
199145,10:102748617:G>A,NM_001163812.1:c.650G>A,NP_001157284.1:p.Arg217Gln,1/5,\N,Unknown significance,\N,missense_variant,14.65,0.00011558,EXAC_EAS_AF,C10orf2
199146,10:102748632:T>C,NM_021830.4:c.665T>C,NP_068602.2:p.Leu222Pro,1/5,\N,Unknown significance,\N,missense_variant,22.7,0.000116279,EVS_EA_AF,C10orf2
199147,10:102748636:G>A,NM_021830.4:c.669G>A,NP_068602.2:p.Glu223=,1/5,\N,Unknown significance,\N,synonymous_variant,0.003,0.001,1KG_EUR_AF,C10orf2
199148,10:102748639:T>C,NM_021830.4:c.672T>C,NP_068602.2:p.Ala224=,1/5,\N,Unknown significance,\N,synonymous_variant,0.005,0.00020982,EXAC_NFE_AF,C10orf2
199149,10:102748644:G>T,NM_021830.4:c.677G>T,NP_068602.2:p.Cys226Phe,1/5,\N,Likely benign,\N,missense_variant,0.3,0.0014,1KG_AMR_AF,C10orf2
199150,10:102748649:G>A,NM_021830.4:c.682G>A,NP_068602.2:p.Gly228Arg,1/5,\N,Likely benign,\N,missense_variant,4.369,0.000288351,EXAC_AFR_AF,C10orf2
199151,10:102748656:G>T,NM_021830.4:c.689G>T,NP_068602.2:p.Gly230Val,1/5,\N,Likely benign,\N,missense_variant,0.002,0.00153787,EXAC_AFR_AF,C10orf2
199152,10:102748658:G>C,NM_021830.4:c.691G>C,NP_068602.2:p.Val231Leu,1/5,\N,Unknown significance,\N,missense_variant,0.422,0.0000449613,EXAC_NFE_AF,C10orf2
199153,10:102748661:A>G,NM_021830.4:c.694A>G,NP_068602.2:p.Ser232Gly,1/5,\N,Likely benign,\N,missense_variant,0.001,0.000116279,EVS_EA_AF,C10orf2
199154,10:102748662:G>A,NM_021830.4:c.695G>A,NP_068602.2:p.Ser232Asn,1/5,\N,Likely benign,\N,missense_variant,0.001,0.0000149871,EXAC_NFE_AF,C10orf2
199155,10:102748665:AC>A,NM_021830.4:c.699del,NP_068602.2:p.Tyr233Ter,1/5,\N,Unknown significance,\N,frameshift_variant,5.183,\N,\N,C10orf2
199156,10:102748666:C>T,NM_021830.4:c.699C>T,NP_068602.2:p.Tyr233=,1/5,\N,Unknown significance,\N,synonymous_variant,0.033,0.000232558,EVS_EA_AF,C10orf2
199157,10:102748667:G>A,NM_021830.4:c.700G>A,NP_068602.2:p.Glu234Lys,1/5,\N,Likely benign,\N,missense_variant,0.156,0.0000149889,EXAC_NFE_AF,C10orf2
199158,10:102748679:A>G,NM_021830.4:c.712A>G,NP_068602.2:p.Ile238Val,1/5,\N,Likely benign,\N,missense_variant,0.001,0.0000961354,EXAC_AFR_AF,C10orf2
199159,10:102748685:C>T,NM_021830.4:c.718C>T,NP_068602.2:p.Arg240Ter,1/5,\N,Unknown significance,\N,stop_gained,35,\N,\N,C10orf2
199160,10:102748688:C>G,NM_021830.4:c.721C>G,NP_068602.2:p.Pro241Ala,1/5,\N,Likely benign,\N,missense_variant,0.008,0.0000149898,EXAC_NFE_AF,C10orf2
199161,10:102748693:C>T,NM_021830.4:c.726C>T,NP_068602.2:p.Ser242=,1/5,\N,Unknown significance,\N,synonymous_variant,6.802,0.0000961354,EXAC_AFR_AF,C10orf2
199162,10:102748696:C>T,NM_021830.4:c.729C>T,NP_068602.2:p.Ala243=,1/5,\N,Unknown significance,\N,synonymous_variant,9.305,0.0000149916,EXAC_NFE_AF,C10orf2
199163,10:102748699:C>T,NM_021830.4:c.732C>T,NP_068602.2:p.Tyr244=,1/5,\N,Unknown significance,\N,synonymous_variant,2.977,0.000226963,EVS_AA_AF,C10orf2
199164,10:102748701:A>G,NM_021830.4:c.734A>G,NP_068602.2:p.His245Arg,1/5,\N,Likely benign,\N,missense_variant,0.479,0.0000149898,EXAC_NFE_AF,C10orf2
199165,10:102748704:A>G,NM_001163812.1:c.737A>G,NP_001157284.1:p.Asn246Ser,1/5,\N,Likely benign,\N,missense_variant,10.71,0.0000299814,EXAC_NFE_AF,C10orf2
199166,10:102748711:T>C,NM_021830.4:c.744T>C,NP_068602.2:p.Phe248=,1/5,\N,Unknown significance,\N,synonymous_variant,0.135,0.000809249,EXAC_EAS_AF,C10orf2
199167,10:102748726:T>A,NM_021830.4:c.759T>A,NP_068602.2:p.Ile253=,1/5,\N,Unknown significance,\N,synonymous_variant,9.9,0.0008,1KG_AFR_AF,C10orf2
199168,10:102748727:A>C,NM_021830.4:c.760A>C,NP_068602.2:p.Ser254Arg,1/5,\N,Likely benign,\N,missense_variant,1.529,0.0000149907,EXAC_NFE_AF,C10orf2
199169,10:102748759:T>C,NM_021830.4:c.792T>C,NP_068602.2:p.Ser264=,1/5,\N,Unknown significance,\N,synonymous_variant,0.226,0.0000149912,EXAC_NFE_AF,C10orf2
199170,10:102748760:C>T,NM_021830.4:c.793C>T,NP_068602.2:p.Arg265Cys,1/5,\N,Unknown significance,\N,missense_variant,24.5,0.000060562,EXAC_SAS_AF,C10orf2
199171,10:102748766:C>G,NM_021830.4:c.799C>G,NP_068602.2:p.Leu267Val,1/5,\N,Unknown significance,\N,missense_variant,6.633,0.000348837,EVS_EA_AF,C10orf2
199172,10:102748768:T>G,NM_021830.4:c.801T>G,NP_068602.2:p.Leu267=,1/5,\N,Unknown significance,\N,synonymous_variant,0.327,0.0015,1KG_AFR_AF,C10orf2
199173,10:102748781:T>C,NM_021830.4:c.814T>C,NP_068602.2:p.Leu272=,1/5,\N,Unknown significance,\N,synonymous_variant,0.06,0.0000149916,EXAC_NFE_AF,C10orf2
199174,10:102748789:G>A,NM_021830.4:c.822G>A,NP_068602.2:p.Gln274=,1/5,\N,Unknown significance,\N,synonymous_variant,0.233,0.0008,1KG_AFR_AF,C10orf2
199175,10:102748795:G>A,NM_021830.4:c.828G>A,NP_068602.2:p.Thr276=,1/5,\N,Unknown significance,\N,synonymous_variant,8.957,0.000151194,EXAC_FIN_AF,C10orf2
199176,10:102748810:T>C,NM_021830.4:c.843T>C,NP_068602.2:p.Leu281=,1/5,\N,Unknown significance,\N,synonymous_variant,0.204,0.0000149943,EXAC_NFE_AF,C10orf2
199177,10:102748815:T>C,NM_021830.4:c.848T>C,NP_068602.2:p.Leu283Pro,1/5,\N,Unknown significance,\N,missense_variant,25,0.0000149966,EXAC_NFE_AF,C10orf2
199178,10:102748816:A>C,NM_021830.4:c.849A>C,NP_068602.2:p.Leu283=,1/5,\N,Unknown significance,\N,synonymous_variant,2.408,0.0000149975,EXAC_NFE_AF,C10orf2
199179,10:102748822:A>G,NM_021830.4:c.855A>G,NP_068602.2:p.Arg285=,1/5,\N,Unknown significance,\N,synonymous_variant,0.087,0.000115607,EXAC_EAS_AF,C10orf2
199180,10:102748827:C>T,NM_021830.4:c.860C>T,NP_068602.2:p.Thr287Met,1/5,\N,Likely benign,\N,missense_variant,4.822,0.000181752,EXAC_SAS_AF,C10orf2
199181,10:102748831:C>T,NM_021830.4:c.864C>T,NP_068602.2:p.Thr288=,1/5,\N,Unknown significance,\N,synonymous_variant,0.414,0.0000605767,EXAC_SAS_AF,C10orf2
199182,10:102748834:C>T,NM_021830.4:c.867C>T,NP_068602.2:p.Cys289=,1/5,\N,Unknown significance,\N,synonymous_variant,0.046,\N,\N,C10orf2
199183,10:102748838:C>T,NM_021830.4:c.871C>T,NP_068602.2:p.Pro291Ser,1/5,\N,Unknown significance,\N,missense_variant,21.7,0.0000150024,EXAC_NFE_AF,C10orf2
199184,10:102748841:C>G,NM_021830.4:c.874C>G,NP_068602.2:p.Pro292Ala,1/5,\N,Unknown significance,\N,missense_variant,17.97,0.0000605987,EXAC_SAS_AF,C10orf2
199185,10:102748842:C>T,NM_021830.4:c.875C>T,NP_068602.2:p.Pro292Leu,1/5,\N,Unknown significance,\N,missense_variant,18.9,0.000116279,EVS_EA_AF,C10orf2
199186,10:102748846:C>T,NM_021830.4:c.879C>T,NP_068602.2:p.Ala293=,1/5,\N,Unknown significance,\N,synonymous_variant,8.071,0.000115607,EXAC_EAS_AF,C10orf2
199187,10:102748871:C>T,NM_021830.4:c.904C>T,NP_068602.2:p.Arg302Trp,1/5,\N,Unknown significance,\N,missense_variant,29.2,0.000226963,EVS_AA_AF,C10orf2
199188,10:102748872:G>A,NM_001163812.1:c.905G>A,NP_001157284.1:p.Arg302Gln,1/5,\N,Unknown significance,\N,missense_variant,22,0.000115634,EXAC_EAS_AF,C10orf2
199189,10:102748874:C>T,NM_021830.4:c.907C>T,NP_068602.2:p.Arg303Trp,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,27.2,\N,\N,C10orf2
199190,10:102748875:G>A,NM_021830.4:c.908G>A,NP_068602.2:p.Arg303Gln,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,27.1,0.0000606281,EXAC_SAS_AF,C10orf2
199191,10:102748877:A>G,NM_021830.4:c.910A>G,NP_068602.2:p.Ile304Val,1/5,\N,Likely benign,\N,missense_variant,0.448,\N,\N,C10orf2
199192,10:102748879:T>A,NM_021830.4:c.912T>A,NP_068602.2:p.Ile304=,1/5,\N,Unknown significance,\N,synonymous_variant,9.864,0.000115634,EXAC_EAS_AF,C10orf2
199193,10:102748879:T>C,NM_021830.4:c.912T>C,NP_068602.2:p.Ile304=,1/5,\N,Unknown significance,\N,synonymous_variant,0.379,0.0000150074,EXAC_NFE_AF,C10orf2
199194,10:102748880:G>T,NM_021830.4:c.913G>T,NP_068602.2:p.Val305Leu,1/5,\N,Likely benign,\N,missense_variant,10.84,0.0000150096,EXAC_NFE_AF,C10orf2
199195,10:102748889:T>C,NM_021830.4:c.922T>C,NP_068602.2:p.Leu308=,1/5,\N,Unknown significance,\N,synonymous_variant,0.079,0.0000600276,EXAC_NFE_AF,C10orf2
199196,10:102748890:T>TG,NM_021830.4:c.928dup,NP_068602.2:p.Asp310GlyfsTer2,1/5,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,C10orf2
199197,10:102748899:A>G,NM_021830.4:c.932A>G,NP_068602.2:p.Asp311Gly,1/5,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,C10orf2
199198,10:102748904:C>T,NM_021830.4:c.937C>T,NP_068602.2:p.Arg313Trp,1/5,\N,Unknown significance,\N,missense_variant,33,\N,\N,C10orf2
199199,10:102748911:G>T,NM_001163812.1:c.944G>T,NP_001157284.1:p.Trp315Leu,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,23.9,\N,\N,C10orf2
199200,10:102748911:G>A,NM_021830.4:c.944G>A,NP_068602.2:p.Trp315Ter,1/5,\N,Unknown significance,\N,stop_gained,37,\N,\N,C10orf2
199201,10:102748911:G>C,NM_021830.4:c.944G>C,NP_068602.2:p.Trp315Ser,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,24.4,\N,\N,C10orf2
199202,10:102748915:A>G,NM_021830.4:c.948A>G,NP_068602.2:p.Glu316=,1/5,\N,Unknown significance,\N,synonymous_variant,1.205,0.0000150033,EXAC_NFE_AF,C10orf2
199203,10:102748918:C>T,NM_021830.4:c.951C>T,NP_068602.2:p.Ala317=,1/5,\N,Unknown significance,\N,synonymous_variant,12.71,0.000116279,EVS_EA_AF,C10orf2
199204,10:102748919:G>A,NM_021830.4:c.952G>A,NP_068602.2:p.Ala318Thr,1/5,\N,Pathogenic,Encephalopathy| early-onset,missense_variant,27.9,\N,\N,C10orf2
199205,10:102748921:C>G,NM_021830.4:c.954C>G,NP_068602.2:p.Ala318=,1/5,\N,Unknown significance,\N,synonymous_variant,7.218,0.000192345,EXAC_AFR_AF,C10orf2
199206,10:102748922:A>G,NM_021830.4:c.955A>G,NP_068602.2:p.Lys319Glu,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.9,\N,\N,C10orf2
199207,10:102748922:A>C,NM_021830.4:c.955A>C,NP_068602.2:p.Lys319Gln,1/5,\N,Unknown significance,\N,missense_variant,24.7,\N,\N,C10orf2
199208,10:102748923:A>C,NM_021830.4:c.956A>C,NP_068602.2:p.Lys319Thr,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.3,\N,\N,C10orf2
199209,10:102748934:C>T,NM_021830.4:c.967C>T,NP_068602.2:p.Arg323Ter,1/5,\N,Likely pathogenic,\N,stop_gained,38,\N,\N,C10orf2
199210,10:102748935:G>A,NM_021830.4:c.968G>A,NP_068602.2:p.Arg323Gln,1/5,\N,Unknown significance,\N,missense_variant,26.5,0.0000605767,EXAC_SAS_AF,C10orf2
199211,10:102748967:C>A,NM_021830.4:c.1000C>A,NP_068602.2:p.Arg334=,1/5,\N,Unknown significance,\N,synonymous_variant,11.15,0.000060562,EXAC_SAS_AF,C10orf2
199212,10:102748967:C>T,NM_021830.4:c.1000C>T,NP_068602.2:p.Arg334Ter,1/5,\N,Unknown significance,\N,stop_gained,36,0.0000149966,EXAC_NFE_AF,C10orf2
199213,10:102748968:G>A,NM_001163812.1:c.1001G>A,NP_001157284.1:p.Arg334Gln,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,20.9,\N,\N,C10orf2
199214,10:102748968:G>T,NM_021830.4:c.1001G>T,NP_068602.2:p.Arg334Leu,1/5,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,C10orf2
199215,10:102748968:G>C,NM_001163812.1:c.1001G>C,NP_001157284.1:p.Arg334Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.7,\N,\N,C10orf2
199216,10:102748969:A>G,NM_021830.4:c.1002A>G,NP_068602.2:p.Arg334=,1/5,\N,Unknown significance,\N,synonymous_variant,6.081,0.000060562,EXAC_SAS_AF,C10orf2
199217,10:102748971:C>T,NM_021830.4:c.1004C>T,NP_068602.2:p.Pro335Leu,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,22.6,\N,\N,C10orf2
199218,10:102748987:C>T,NM_021830.4:c.1020C>T,NP_068602.2:p.Pro340=,1/5,\N,Unknown significance,\N,synonymous_variant,2.52,0.000115634,EXAC_EAS_AF,C10orf2
199219,10:102748988:C>T,NM_021830.4:c.1021C>T,NP_068602.2:p.Arg341Cys,1/5,\N,Likely benign,\N,missense_variant,11.88,0.001,1KG_SAS_AF,C10orf2
199220,10:102748989:G>A,NM_021830.4:c.1022G>A,NP_068602.2:p.Arg341His,1/5,\N,Likely benign,\N,missense_variant,8.863,0.0000863707,EXAC_AMR_AF,C10orf2
199221,10:102748993:C>T,NM_021830.4:c.1026C>T,NP_068602.2:p.Pro342=,1/5,\N,Unknown significance,\N,synonymous_variant,7.634,0.000060562,EXAC_SAS_AF,C10orf2
199222,10:102748996:G>A,NM_021830.4:c.1029G>A,NP_068602.2:p.Leu343=,1/5,\N,Unknown significance,\N,synonymous_variant,0.23,0.0000149993,EXAC_NFE_AF,C10orf2
199223,10:102749008:C>T,NM_021830.4:c.1041C>T,NP_068602.2:p.Asn347=,1/5,\N,Unknown significance,\N,synonymous_variant,2.21,0.000116279,EVS_EA_AF,C10orf2
199224,10:102749009:G>A,NM_021830.4:c.1042G>A,NP_068602.2:p.Gly348Arg,1/5,\N,Likely benign,\N,missense_variant,0.017,0.00080981,EXAC_EAS_AF,C10orf2
199225,10:102749012:G>A,NM_021830.4:c.1045G>A,NP_068602.2:p.Gly349Ser,1/5,\N,Unknown significance,\N,missense_variant,13.99,0.0000150006,EXAC_NFE_AF,C10orf2
199226,10:102749013:G>T,NM_021830.4:c.1046G>T,NP_068602.2:p.Gly349Val,1/5,\N,Unknown significance,\N,missense_variant,23.6,0.00011566,EXAC_EAS_AF,C10orf2
199227,10:102749019:A>G,NM_021830.4:c.1052A>G,NP_068602.2:p.Asn351Ser,1/5,\N,Likely benign,\N,missense_variant,3.252,0.000226963,EVS_AA_AF,C10orf2
199228,10:102749023:TTCTC>T,NM_021830.4:c.1057_1060del,NP_068602.2:p.Ser353ValfsTer25,1/5,\N,Unknown significance,\N,frameshift_variant,29.8,0.000115687,EXAC_EAS_AF,C10orf2
199229,10:102749027:C>T,NM_021830.4:c.1060C>T,NP_068602.2:p.Arg354Cys,1/5,\N,Unknown significance,\N,missense_variant,28.1,0.0008,1KG_AFR_AF,C10orf2
199230,10:102749028:G>C,NM_001163812.1:c.1061G>C,NP_001157284.1:p.Arg354Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,17.3,\N,\N,C10orf2
199231,10:102749037:G>A,NM_021830.4:c.1070G>A,NP_068602.2:p.Arg357His,1/5,\N,Unknown significance,\N,missense_variant,24.2,0.0000962279,EXAC_AFR_AF,C10orf2
199232,10:102749037:G>C,NM_001163812.1:c.1070G>C,NP_001157284.1:p.Arg357Pro,1/5,\N,Pathogenic,Ocular myopathy,missense_variant,23.7,\N,\N,C10orf2
199233,10:102749041:C>T,NM_021830.4:c.1074C>T,NP_068602.2:p.Thr358=,1/5,\N,Unknown significance,\N,synonymous_variant,11.35,0.000151194,EXAC_FIN_AF,C10orf2
199234,10:102749042:G>A,NM_021830.4:c.1075G>A,NP_068602.2:p.Ala359Thr,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,27.7,\N,\N,C10orf2
199235,10:102749042:G>T,NM_021830.4:c.1075G>T,NP_068602.2:p.Ala359Ser,1/5,\N,Unknown significance,\N,missense_variant,23.4,\N,\N,C10orf2
199236,10:102749043:C>T,NM_001163812.1:c.1076C>T,NP_001157284.1:p.Ala359Val,1/5,\N,Unknown significance,\N,missense_variant,28.8,0.000226963,EVS_AA_AF,C10orf2
199237,10:102749045:CT>GG,NM_001163812.1:c.1078_1079delinsGG,NP_001157284.1:p.Leu360Gly,1/5,\N,Pathogenic,Progressive external ophthalmoplegia & multisystem failure,missense_variant,23.4,\N,\N,C10orf2
199238,10:102749051:G>C,NM_021830.4:c.1084G>C,NP_068602.2:p.Ala362Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,22.2,\N,\N,C10orf2
199239,10:102749055:G>T,NM_021830.4:c.1088G>T,NP_068602.2:p.Trp363Leu,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,15.08,\N,\N,C10orf2
199240,10:102749061:A>G,NM_021830.4:c.1094A>G,NP_068602.2:p.Lys365Arg,1/5,\N,Unknown significance,\N,missense_variant,17.77,0.000116279,EVS_EA_AF,C10orf2
199241,10:102749062:G>T,NM_021830.4:c.1095G>T,NP_068602.2:p.Lys365Asn,1/5,\N,Unknown significance,\N,missense_variant,24.9,0.00011566,EXAC_EAS_AF,C10orf2
199242,10:102749067:T>C,NM_021830.4:c.1100T>C,NP_068602.2:p.Ile367Thr,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.4,\N,\N,C10orf2
199243,10:102749068:C>T,NM_021830.4:c.1101C>T,NP_068602.2:p.Ile367=,1/5,\N,Unknown significance,\N,synonymous_variant,13.95,0.0023,1KG_AFR_AF,C10orf2
199244,10:102749069:G>A,NM_021830.4:c.1102G>A,NP_068602.2:p.Val368Ile,1/5,\N,Benign,\N,missense_variant,14.45,0.1415,1KG_AFR_AF,C10orf2
199245,10:102749069:G>T,NM_021830.4:c.1102G>T,NP_068602.2:p.Val368Leu,1/5,\N,Unknown significance,\N,missense_variant,19.76,0.0000864006,EXAC_AMR_AF,C10orf2
199246,10:102749072:T>C,NM_021830.4:c.1105T>C,NP_068602.2:p.Ser369Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.4,\N,\N,C10orf2
199247,10:102749073:C>A,NM_021830.4:c.1106C>A,NP_068602.2:p.Ser369Tyr,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26.7,\N,\N,C10orf2
199248,10:102749073:C>T,NM_021830.4:c.1106C>T,NP_068602.2:p.Ser369Phe,1/5,\N,Unknown significance,\N,missense_variant,27.6,\N,\N,C10orf2
199249,10:102749076:T>G,NM_021830.4:c.1109T>G,NP_068602.2:p.Phe370Cys,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26.4,\N,\N,C10orf2
199250,10:102749077:C>G,NM_001163812.1:c.1110C>G,NP_001157284.1:p.Phe370Leu,1/5,\N,Pathogenic,\N,missense_variant,21.6,\N,\N,C10orf2
199251,10:102749077:C>A,NM_001163812.1:c.1110C>A,NP_001157284.1:p.Phe370Leu,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,22.6,\N,\N,C10orf2
199252,10:102749078:C>T,NM_021830.4:c.1111C>T,NP_068602.2:p.Arg371Trp,1/5,\N,Unknown significance,\N,missense_variant,33,0.000116279,EVS_EA_AF,C10orf2
199253,10:102749079:G>A,NM_021830.4:c.1112G>A,NP_068602.2:p.Arg371Gln,1/5,\N,Likely benign,\N,missense_variant,21.4,0.001,1KG_EUR_AF,C10orf2
199254,10:102749084:C>T,NM_021830.4:c.1117C>T,NP_068602.2:p.Leu373Phe,1/5,\N,Unknown significance,\N,missense_variant,26.2,0.00110375,EXAC_OTH_AF,C10orf2
199255,10:102749087:C>T,NM_021830.4:c.1120C>T,NP_068602.2:p.Arg374Trp,1/5,\N,Pathogenic,Dementia| late-onset,missense_variant,25.4,\N,\N,C10orf2
199256,10:102749088:G>A,NM_021830.4:c.1121G>A,NP_068602.2:p.Arg374Gln,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,33,\N,\N,C10orf2
199257,10:102749092:G>A,NM_021830.4:c.1125G>A,NP_068602.2:p.Glu375=,1/5,\N,Unknown significance,\N,synonymous_variant,3.436,0.000060562,EXAC_SAS_AF,C10orf2
199258,10:102749100:T>C,NM_021830.4:c.1133T>C,NP_068602.2:p.Leu378Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.3,\N,\N,C10orf2
199259,10:102749109:T>C,NM_021830.4:c.1142T>C,NP_068602.2:p.Leu381Pro,1/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,22.9,\N,\N,C10orf2
199260,10:102749109:T>G,NM_021830.4:c.1142T>G,NP_068602.2:p.Leu381Arg,1/5,\N,Unknown significance,\N,missense_variant,26,\N,\N,C10orf2
199261,10:102749126:G>A,NM_021830.4:c.1159G>A,NP_068602.2:p.Ala387Thr,1/5,\N,Unknown significance,\N,missense_variant,18.9,0.000116279,EVS_EA_AF,C10orf2
199262,10:102749138:C>T,NM_021830.4:c.1171C>T,NP_068602.2:p.Arg391Cys,1/5,\N,Unknown significance,\N,missense_variant,23,0.000226963,EVS_AA_AF,C10orf2
199263,10:102749139:G>A,NM_021830.4:c.1172G>A,NP_068602.2:p.Arg391His,1/5,\N,Pathogenic,Perrault syndrome 5; PERRAULT SYNDROME 5,missense_variant,17.03,0.001,1KG_EAS_AF,C10orf2
199264,10:102749140:C>T,NM_021830.4:c.1173C>T,NP_068602.2:p.Arg391=,1/5,\N,Unknown significance,\N,synonymous_variant,0.232,0.000172771,EXAC_AMR_AF,C10orf2
199265,10:102749148:G>A,NM_021830.4:c.1181G>A,NP_068602.2:p.Arg394His,1/5,\N,Unknown significance,\N,missense_variant,26.7,0.00011566,EXAC_EAS_AF,C10orf2
199266,10:102749150:T>C,NM_021830.4:c.1183T>C,NP_068602.2:p.Phe395Leu,1/5,\N,Pathogenic,Mitochondrial DNA depletion syndrome,missense_variant,24,\N,\N,C10orf2
199267,10:102749153:C>G,NM_001163812.1:c.1186C>G,NP_001157284.1:p.Pro396Ala,1/5,\N,Unknown significance,\N,missense_variant,23,0.0000605694,EXAC_SAS_AF,C10orf2
199268,10:102749153:C>T,NM_001163812.1:c.1186C>T,NP_001157284.1:p.Pro396Ser,1/5,\N,Unknown significance,\N,missense_variant,22,0.0000605694,EXAC_SAS_AF,C10orf2
199269,10:102749157:A>G,NM_021830.4:c.1190A>G,NP_068602.2:p.Asp397Gly,1/5,\N,Unknown significance,\N,missense_variant,8.851,0.000302847,EXAC_SAS_AF,C10orf2
199270,10:102749163:A>G,NM_021830.4:c.1196A>G,NP_068602.2:p.Asn399Ser,1/5,\N,Likely pathogenic,\N,missense_variant,0.191,\N,\N,C10orf2
199271,10:102749165:C>A,NM_001163812.1:c.1198C>A,NP_001157284.1:p.Arg400Ser,1/5,\N,Unknown significance,\N,missense_variant,22.9,0.0000605694,EXAC_SAS_AF,C10orf2
199272,10:102749165:C>T,NM_021830.4:c.1198C>T,NP_068602.2:p.Arg400Cys,1/5,\N,Pathogenic,Complex I deficiency,missense_variant,25.9,\N,\N,C10orf2
199273,10:102749166:G>A,NM_021830.4:c.1199G>A,NP_068602.2:p.Arg400His,1/5,\N,Unknown significance,\N,missense_variant,22.9,0.0000150078,EXAC_NFE_AF,C10orf2
199274,10:102749176:G>A,NM_021830.4:c.1209G>A,NP_068602.2:p.Lys403=,1/5,\N,Unknown significance,\N,synonymous_variant,0.146,0.0008,1KG_AFR_AF,C10orf2
199275,10:102749184:G>A,NM_021830.4:c.1217G>A,NP_068602.2:p.Arg406Gln,1/5,\N,Unknown significance,\N,missense_variant,26.3,0.0000150159,EXAC_NFE_AF,C10orf2
199276,10:102749187:A>C,NM_001163812.1:c.1220A>C,NP_001157284.1:p.Lys407Thr,1/5,\N,Unknown significance,\N,missense_variant,9.197,0.000151286,EXAC_FIN_AF,C10orf2
199277,10:102749196:T>G,NM_021830.4:c.1229T>G,NP_068602.2:p.Leu410Arg,1/5,\N,Likely pathogenic,\N,missense_variant,24.4,0.0000150272,EXAC_NFE_AF,C10orf2
199278,10:102749200:G>A,NM_021830.4:c.1233G>A,NP_068602.2:p.Thr411=,1/5,\N,Unknown significance,\N,synonymous_variant,1.628,0.000116144,EXAC_EAS_AF,C10orf2
199279,10:102749217:C>T,NM_021830.4:c.1243+7C>T,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,1.019,0.001,1KG_EAS_AF,C10orf2
199280,10:102749224:A>G,NM_021830.4:c.1243+14A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.071,0.0031,1KG_SAS_AF,C10orf2
199281,10:102749228:C>T,NM_021830.4:c.1243+18C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.059,0.000232558,EXAC_EAS_AF,C10orf2
199282,10:102749232:A>G,NM_021830.4:c.1243+22A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.013,0.000581531,EXAC_EAS_AF,C10orf2
199283,10:102749234:TTAGAG>T,NM_021830.4:c.1243+27_1243+31del,\N,\N,1/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199284,10:102749235:T>G,NM_021830.4:c.1243+25T>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.019,0.0000603555,EXAC_NFE_AF,C10orf2
199285,10:102749246:G>T,NM_021830.4:c.1243+36G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.015,\N,\N,C10orf2
199286,10:102749248:C>A,NM_021830.4:c.1243+38C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,0.06,0.0000151071,EXAC_NFE_AF,C10orf2
199287,10:102749252:A>T,NM_021830.4:c.1243+42A>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.009,0.0000302206,EXAC_NFE_AF,C10orf2
199288,10:102749253:G>T,NM_021830.4:c.1243+43G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.013,0.000173581,EXAC_AMR_AF,C10orf2
199289,10:102749254:A>G,NM_021830.4:c.1243+44A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.031,0.0000151167,EXAC_NFE_AF,C10orf2
199290,10:102749254:A>T,NM_021830.4:c.1243+44A>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.011,0.0000606428,EXAC_SAS_AF,C10orf2
199291,10:102749258:G>T,NM_021830.4:c.1243+48G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,0.02,0.0000868056,EXAC_AMR_AF,C10orf2
199292,10:102749260:T>A,NM_021830.4:c.1243+50T>A,\N,\N,1/4,Unknown significance,\N,intron_variant,0.034,\N,\N,C10orf2
199293,10:102749279:T>C,NM_021830.4:c.1243+69T>C,\N,\N,1/4,Unknown significance,\N,intron_variant,0.216,0.0014,1KG_AMR_AF,C10orf2
199294,10:102749320:C>G,NM_021830.4:c.1244-81C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.002,\N,\N,C10orf2
199295,10:102749341:A>G,NM_021830.4:c.1244-60A>G,\N,\N,1/4,Benign,\N,intron_variant,0.017,0.0053,1KG_AFR_AF,C10orf2
199296,10:102749358:G>A,NM_021830.4:c.1244-43G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,4.347,0.0000299922,EXAC_NFE_AF,C10orf2
199297,10:102749359:T>C,NM_021830.4:c.1244-42T>C,\N,\N,1/4,Unknown significance,\N,intron_variant,5.274,0.000014997,EXAC_NFE_AF,C10orf2
199298,10:102749360:A>G,NM_021830.4:c.1244-41A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,4.618,0.0000961538,EXAC_AFR_AF,C10orf2
199299,10:102749367:C>T,NM_021830.4:c.1244-34C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,12.92,0.00110132,EXAC_OTH_AF,C10orf2
199300,10:102749368:C>G,NM_021830.4:c.1244-33C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,13.18,0.0000605694,EXAC_SAS_AF,C10orf2
199301,10:102749376:C>G,NM_021830.4:c.1244-25C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,12.62,0.000115634,EXAC_EAS_AF,C10orf2
199302,10:102749377:C>G,NM_021830.4:c.1244-24C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,0.178,0.000462321,EXAC_EAS_AF,C10orf2
199303,10:102749378:A>C,NM_021830.4:c.1244-23A>C,\N,\N,1/4,Unknown significance,\N,intron_variant,0.147,0.0000149912,EXAC_NFE_AF,C10orf2
199304,10:102749387:C>T,NM_021830.4:c.1244-14C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,4.665,0.000231107,EXAC_EAS_AF,C10orf2
199305,10:102749395:C>T,NM_021830.4:c.1244-6C>T,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,0.281,0.0000149885,EXAC_NFE_AF,C10orf2
199306,10:102749402:G>A,NM_021830.4:c.1245G>A,NP_068602.2:p.Gly415=,2/5,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,7.645,0.0000899254,EXAC_NFE_AF,C10orf2
199307,10:102749409:G>A,NM_021830.4:c.1252G>A,NP_068602.2:p.Gly418Ser,2/5,\N,Unknown significance,\N,missense_variant,26.6,0.000116279,EVS_EA_AF,C10orf2
199308,10:102749412:A>G,NM_021830.4:c.1255A>G,NP_068602.2:p.Ser419Gly,2/5,\N,Unknown significance,\N,missense_variant,15.7,0.0000863707,EXAC_AMR_AF,C10orf2
199309,10:102749414:T>C,NM_021830.4:c.1257T>C,NP_068602.2:p.Ser419=,2/5,\N,Unknown significance,\N,synonymous_variant,0.078,0.000060562,EXAC_SAS_AF,C10orf2
199310,10:102749423:G>A,NM_021830.4:c.1266G>A,NP_068602.2:p.Thr422=,2/5,\N,Unknown significance,\N,synonymous_variant,5.489,0.0000149853,EXAC_NFE_AF,C10orf2
199311,10:102749424:A>T,NM_021830.4:c.1267A>T,NP_068602.2:p.Thr423Ser,2/5,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,C10orf2
199312,10:102749429:C>T,NM_021830.4:c.1272C>T,NP_068602.2:p.Phe424=,2/5,\N,Unknown significance,\N,synonymous_variant,8.499,0.0000149858,EXAC_NFE_AF,C10orf2
199313,10:102749434:G>A,NM_021830.4:c.1277G>A,NP_068602.2:p.Ser426Asn,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.8,\N,\N,C10orf2
199314,10:102749437:A>G,NM_021830.4:c.1280A>G,NP_068602.2:p.Glu427Gly,2/5,\N,Unknown significance,\N,missense_variant,27.9,\N,\N,C10orf2
199315,10:102749444:C>T,NM_021830.4:c.1287C>T,NP_068602.2:p.Ala429=,2/5,\N,Pathogenic,Reduced expression,synonymous_variant,13.51,\N,\N,C10orf2
199316,10:102749458:C>A,NM_021830.4:c.1301C>A,NP_068602.2:p.Ser434Tyr,2/5,\N,Unknown significance,\N,missense_variant,18.77,0.000116279,EVS_EA_AF,C10orf2
199317,10:102749458:C>T,NM_021830.4:c.1301C>T,NP_068602.2:p.Ser434Phe,2/5,\N,Unknown significance,\N,missense_variant,20.4,0.000060562,EXAC_SAS_AF,C10orf2
199318,10:102749463:G>A,NM_021830.4:c.1306G>A,NP_068602.2:p.Gly436Arg,2/5,\N,Pathogenic,Ataxia,missense_variant,28.1,\N,\N,C10orf2
199319,10:102749465:G>A,NM_021830.4:c.1308G>A,NP_068602.2:p.Gly436=,2/5,\N,Unknown significance,\N,synonymous_variant,6.065,0.000115554,EXAC_EAS_AF,C10orf2
199320,10:102749478:T>G,NM_021830.4:c.1321T>G,NP_068602.2:p.Trp441Gly,2/5,\N,Pathogenic,Perrault syndrome 5; PERRAULT SYNDROME 5,missense_variant,25.4,\N,\N,C10orf2
199321,10:102749489:C>T,NM_021830.4:c.1332C>T,NP_068602.2:p.Phe444=,2/5,\N,Unknown significance,\N,synonymous_variant,12.3,0.0000863707,EXAC_AMR_AF,C10orf2
199322,10:102749495:C>G,NM_001163812.1:c.1338C>G,NP_001157284.1:p.Ile446Met,2/5,\N,Unknown significance,\N,missense_variant,20.6,0.000172741,EXAC_AMR_AF,C10orf2
199323,10:102749495:C>T,NM_021830.4:c.1338C>T,NP_068602.2:p.Ile446=,2/5,\N,Unknown significance,\N,synonymous_variant,10.43,0.0000149849,EXAC_NFE_AF,C10orf2
199324,10:102749499:A>G,NM_001163812.1:c.1342A>G,NP_001157284.1:p.Asn448Asp,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.7,\N,\N,C10orf2
199325,10:102749502:G>A,NM_021830.4:c.1345G>A,NP_068602.2:p.Val449Met,2/5,\N,Unknown significance,\N,missense_variant,26.6,0.000060562,EXAC_SAS_AF,C10orf2
199326,10:102749511:G>GC,NM_021830.4:c.1357dup,NP_068602.2:p.Arg453ProfsTer20,2/5,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,C10orf2
199327,10:102749513:C>A,NM_021830.4:c.1356C>A,NP_068602.2:p.Ala452=,2/5,\N,Unknown significance,\N,synonymous_variant,13.51,0.0000149853,EXAC_NFE_AF,C10orf2
199328,10:102749514:C>T,NM_021830.4:c.1357C>T,NP_068602.2:p.Arg453Trp,2/5,\N,Unknown significance,\N,missense_variant,31,0.000121124,EXAC_SAS_AF,C10orf2
199329,10:102749515:G>A,NM_021830.4:c.1358G>A,NP_068602.2:p.Arg453Gln,2/5,\N,Unknown significance,\N,missense_variant,23,\N,\N,C10orf2
199330,10:102749521:T>C,NM_001163813.1:c.2T>C,NP_001157285.1:p.Met1?,2/5,\N,Pathogenic,Progressive external ophthalmoplegia & orthostatic tremor,start_lost,24.3,\N,\N,C10orf2
199331,10:102749523:C>G,NM_001163812.1:c.1366C>G,NP_001157284.1:p.Leu456Val,2/5,\N,Pathogenic,Spirocerebellar ataxia| infantile onset,missense_variant,24.8,\N,\N,C10orf2
199332,10:102749527:C>T,NM_021830.4:c.1370C>T,NP_068602.2:p.Thr457Ile,2/5,\N,Pathogenic,Mitochondrial DNA depletion syndrome,missense_variant,25.7,\N,\N,C10orf2
199333,10:102749531:G>T,NM_021830.4:c.1374G>T,NP_068602.2:p.Gln458His,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,23.8,\N,\N,C10orf2
199334,10:102749535:G>C,NM_021830.4:c.1378G>C,NP_068602.2:p.Ala460Pro,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,24.2,\N,\N,C10orf2
199335,10:102749536:C>G,NM_021830.4:c.1379C>G,NP_068602.2:p.Ala460Gly,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,24.1,\N,\N,C10orf2
199336,10:102749537:C>T,NM_021830.4:c.1380C>T,NP_068602.2:p.Ala460=,2/5,\N,Unknown significance,\N,synonymous_variant,7.213,0.000121124,EXAC_SAS_AF,C10orf2
199337,10:102749538:G>A,NM_021830.4:c.1381G>A,NP_068602.2:p.Glu461Lys,2/5,\N,Likely benign,\N,missense_variant,0.004,0.000060562,EXAC_SAS_AF,C10orf2
199338,10:102749544:C>T,NM_021830.4:c.1387C>T,NP_068602.2:p.Arg463Trp,2/5,\N,Pathogenic,Spirocerebellar ataxia| infantile onset,missense_variant,25.1,0.000060562,EXAC_SAS_AF,C10orf2
199339,10:102749545:G>A,NM_021830.4:c.1388G>A,NP_068602.2:p.Arg463Gln,2/5,\N,Unknown significance,\N,missense_variant,13.64,0.00011558,EXAC_EAS_AF,C10orf2
199340,10:102749546:G>T,NM_021830.4:c.1389G>T,NP_068602.2:p.Arg463=,2/5,\N,Unknown significance,\N,synonymous_variant,0.11,0.0000863707,EXAC_AMR_AF,C10orf2
199341,10:102749550:G>A,NM_021830.4:c.1393G>A,NP_068602.2:p.Glu465Lys,2/5,\N,Unknown significance,\N,missense_variant,23.4,0.0000863707,EXAC_AMR_AF,C10orf2
199342,10:102749552:A>G,NM_021830.4:c.1395A>G,NP_068602.2:p.Glu465=,2/5,\N,Unknown significance,\N,synonymous_variant,0.046,0.0000149849,EXAC_NFE_AF,C10orf2
199343,10:102749558:A>G,NM_021830.4:c.1401A>G,NP_068602.2:p.Gln467=,2/5,\N,Unknown significance,\N,synonymous_variant,0.006,0.000172741,EXAC_AMR_AF,C10orf2
199344,10:102749561:G>A,NM_021830.4:c.1404G>A,NP_068602.2:p.Leu468=,2/5,\N,Unknown significance,\N,synonymous_variant,0.286,0.000060562,EXAC_SAS_AF,C10orf2
199345,10:102749567:A>G,NM_021830.4:c.1410A>G,NP_068602.2:p.Lys470=,2/5,\N,Unknown significance,\N,synonymous_variant,0.012,0.00011558,EXAC_EAS_AF,C10orf2
199346,10:102749573:T>C,NM_021830.4:c.1416T>C,NP_068602.2:p.Asp472=,2/5,\N,Unknown significance,\N,synonymous_variant,0.003,0.0000149853,EXAC_NFE_AF,C10orf2
199347,10:102749578:G>C,NM_021830.4:c.1421G>C,NP_068602.2:p.Trp474Ser,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26.1,\N,\N,C10orf2
199348,10:102749579:G>A,NM_021830.4:c.1422G>A,NP_068602.2:p.Trp474Ter,2/5,\N,Pathogenic,Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS| AUTOSOMAL DOMINANT 3,stop_gained,37,\N,\N,C10orf2
199349,10:102749579:G>T,NM_021830.4:c.1422G>T,NP_068602.2:p.Trp474Cys,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26.6,\N,\N,C10orf2
199350,10:102749580:G>C,NM_021830.4:c.1423G>C,NP_068602.2:p.Ala475Pro,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26.1,\N,\N,C10orf2
199351,10:102749580:G>A,NM_021830.4:c.1423G>A,NP_068602.2:p.Ala475Thr,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.9,\N,\N,C10orf2
199352,10:102749581:C>A,NM_021830.4:c.1424C>A,NP_068602.2:p.Ala475Asp,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,27.9,\N,\N,C10orf2
199353,10:102749586:C>A,NM_021830.4:c.1429C>A,NP_068602.2:p.Arg477Ser,2/5,\N,Unknown significance,\N,missense_variant,22.8,0.000151194,EXAC_FIN_AF,C10orf2
199354,10:102749586:C>T,NM_001163812.1:c.1429C>T,NP_001157284.1:p.Arg477Cys,2/5,\N,Unknown significance,\N,missense_variant,24.8,0.00011558,EXAC_EAS_AF,C10orf2
199355,10:102749589:T>A,NM_021830.4:c.1432T>A,NP_068602.2:p.Phe478Ile,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,25.2,\N,\N,C10orf2
199356,10:102749590:T>G,NM_021830.4:c.1433T>G,NP_068602.2:p.Phe478Cys,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,26,\N,\N,C10orf2
199357,10:102749592:G>A,NM_021830.4:c.1435G>A,NP_068602.2:p.Glu479Lys,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,27.1,\N,\N,C10orf2
199358,10:102749596:A>C,NM_001163812.1:c.1439A>C,NP_001157284.1:p.Asp480Ala,2/5,\N,Unknown significance,\N,missense_variant,12.97,\N,\N,C10orf2
199359,10:102749612:C>A,NM_021830.4:c.1455C>A,NP_068602.2:p.Phe485Leu,2/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,23.4,\N,\N,C10orf2
199360,10:102749613:A>T,NM_021830.4:c.1456A>T,NP_068602.2:p.Met486Leu,2/5,\N,Unknown significance,\N,missense_variant,16.66,0.0000299805,EXAC_NFE_AF,C10orf2
199361,10:102749617:CTT>C,NM_021830.4:c.1462_1463del,NP_068602.2:p.Phe488ProfsTer21,2/5,\N,Pathogenic,\N,frameshift_variant,\N,\N,\N,C10orf2
199362,10:102749617:C>T,NM_001163812.1:c.1460C>T,NP_001157284.1:p.Thr487Ile,2/5,\N,Pathogenic,Spirocerebellar ataxia| infantile onset,missense_variant,26.6,\N,\N,C10orf2
199363,10:102749623:A>G,NM_021830.4:c.1466A>G,NP_068602.2:p.His489Arg,2/5,\N,Unknown significance,\N,missense_variant,22.5,0.0000149916,EXAC_NFE_AF,C10orf2
199364,10:102749639:C>T,NM_021830.4:c.1482C>T,NP_068602.2:p.Ile494=,2/5,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.002,0.0000149988,EXAC_NFE_AF,C10orf2
199365,10:102749652:C>T,NM_021830.4:c.1484+11C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.967,0.0000150047,EXAC_NFE_AF,C10orf2
199366,10:102749659:C>T,NM_021830.4:c.1484+18C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.843,\N,\N,C10orf2
199367,10:102749670:C>T,NM_021830.4:c.1484+29C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.557,0.0000150114,EXAC_NFE_AF,C10orf2
199368,10:102749675:C>T,NM_021830.4:c.1484+34C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.329,0.0000300246,EXAC_NFE_AF,C10orf2
199369,10:102749684:T>C,NM_021830.4:c.1484+43T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.898,0.0000605767,EXAC_SAS_AF,C10orf2
199370,10:102749690:C>T,NM_021830.4:c.1484+49C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.2,0.0000150218,EXAC_NFE_AF,C10orf2
199371,10:102749710:C>G,NM_021830.4:c.1484+69C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.38,0.0008,1KG_AFR_AF,C10orf2
199372,10:102749769:G>T,NM_021830.4:c.1484+128G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.396,\N,\N,C10orf2
199373,10:102749786:C>T,NM_021830.4:c.1484+145C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.839,0.001,1KG_EAS_AF,C10orf2
199374,10:102749796:C>T,NM_021830.4:c.1484+155C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.679,\N,\N,C10orf2
199375,10:102749799:G>A,NM_021830.4:c.1484+158G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.177,\N,\N,C10orf2
199376,10:102749816:TTTGGGAGGCTGAGGTGGGAGGATCAC>T,NM_021830.4:c.1484+179_1484+204del,\N,\N,2/4,Benign,\N,intron_variant,5.592,0.0227,1KG_AFR_AF,C10orf2
199377,10:102749819:GGGA>G,NM_021830.4:c.1484+181_1484+183del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199378,10:102749873:C>A,NM_021830.4:c.1484+232C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.34,0.001,1KG_EAS_AF,C10orf2
199379,10:102749878:T>C,NM_021830.4:c.1484+237T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.922,\N,\N,C10orf2
199380,10:102749890:C>T,NM_021830.4:c.1484+249C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.084,0.0038,1KG_AFR_AF,C10orf2
199381,10:102749899:T>TA,NM_021830.4:c.1484+265dup,\N,\N,2/4,Unknown significance,\N,intron_variant,0.457,0.0023,1KG_AFR_AF,C10orf2
199382,10:102749906:AT>A,NM_021830.4:c.1484+270del,\N,\N,2/4,Benign,\N,intron_variant,0.002,0.0119,1KG_EAS_AF,C10orf2
199383,10:102749907:T>A,NM_021830.4:c.1484+266T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.029,0.001,1KG_SAS_AF,C10orf2
199384,10:102749910:T>G,NM_021830.4:c.1484+269T>G,\N,\N,2/4,Benign,\N,intron_variant,1.583,0.0051,1KG_SAS_AF,C10orf2
199385,10:102749912:A>T,NM_021830.4:c.1484+271A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.01,0.002,1KG_EAS_AF,C10orf2
199386,10:102749923:T>A,NM_021830.4:c.1485-270T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,8.33,\N,\N,C10orf2
199387,10:102749932:TGATGGC>T,NM_021830.4:c.1485-260_1485-255del,\N,\N,2/4,Unknown significance,\N,intron_variant,5.999,\N,\N,C10orf2
199388,10:102749933:G>GATGGCA,NM_021830.4:c.1485-259_1485-254dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199389,10:102749933:GATGGCA>G,NM_021830.4:c.1485-259_1485-254del,\N,\N,2/4,Benign,\N,intron_variant,7.566,0.4851,1KG_EUR_AF,C10orf2
199390,10:102749938:C>T,NM_021830.4:c.1485-255C>T,\N,\N,2/4,Benign,\N,intron_variant,5.056,0.0121,1KG_AFR_AF,C10orf2
199391,10:102749939:A>G,NM_021830.4:c.1485-254A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.076,\N,\N,C10orf2
199392,10:102749984:C>T,NM_021830.4:c.1485-209C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.422,\N,\N,C10orf2
199393,10:102750055:G>A,NM_021830.4:c.1485-138G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,10.32,0.0008,1KG_AFR_AF,C10orf2
199394,10:102750061:C>T,NM_021830.4:c.1485-132C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,9.511,\N,\N,C10orf2
199395,10:102750071:A>G,NM_021830.4:c.1485-122A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.36,\N,\N,C10orf2
199396,10:102750158:C>T,NM_021830.4:c.1485-35C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.425,0.0000961723,EXAC_AFR_AF,C10orf2
199397,10:102750160:A>G,NM_021830.4:c.1485-33A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.076,0.0000863707,EXAC_AMR_AF,C10orf2
199398,10:102750166:C>G,NM_021830.4:c.1485-27C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.923,0.0000961538,EXAC_AFR_AF,C10orf2
199399,10:102750167:A>C,NM_021830.4:c.1485-26A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.001,0.001,1KG_EUR_AF,C10orf2
199400,10:102750169:A>G,NM_021830.4:c.1485-24A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.776,0.0000605767,EXAC_SAS_AF,C10orf2
199401,10:102750181:T>C,NM_021830.4:c.1485-12T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,7.847,\N,\N,C10orf2
199402,10:102750182:C>T,NM_021830.4:c.1485-11C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.115,0.00115385,EXAC_AFR_AF,C10orf2
199403,10:102750183:C>G,NM_021830.4:c.1485-10C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.132,0.000121139,EXAC_SAS_AF,C10orf2
199404,10:102750184:T>A,NM_021830.4:c.1485-9T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,9.929,0.000014984,EXAC_NFE_AF,C10orf2
199405,10:102750189:C>A,NM_021830.4:c.1485-4C>A,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,8.343,0.0000149844,EXAC_NFE_AF,C10orf2
199406,10:102750190:C>A,NM_021830.4:c.1485-3C>A,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,11.46,0.000226963,EVS_AA_AF,C10orf2
199407,10:102750192:G>A,NM_021830.4:c.1485-1G>A,\N,\N,2/4,Pathogenic,Spirocerebellar ataxia| infantile onset,splice_acceptor_variant,24.8,\N,\N,C10orf2
199408,10:102750193:G>A,NM_021830.4:c.1485G>A,NP_068602.2:p.Arg495=,3/5,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.27,0.00104885,EXAC_NFE_AF,C10orf2
199409,10:102750195:C>G,NM_021830.4:c.1487C>G,NP_068602.2:p.Thr496Ser,3/5,\N,Likely benign,\N,missense_variant&splice_region_variant,12.63,0.000302389,EXAC_FIN_AF,C10orf2
199410,10:102750196:T>C,NM_021830.4:c.1488T>C,NP_068602.2:p.Thr496=,3/5,\N,Unknown significance,\N,synonymous_variant,2.108,0.00196441,EXAC_EAS_AF,C10orf2
199411,10:102750197:G>A,NM_001163812.1:c.1489G>A,NP_001157284.1:p.Val497Ile,3/5,\N,Unknown significance,\N,missense_variant,27.1,0.001,1KG_SAS_AF,C10orf2
199412,10:102750201:T>C,NM_021830.4:c.1493T>C,NP_068602.2:p.Ile498Thr,3/5,\N,Unknown significance,\N,missense_variant,19.14,0.0000605694,EXAC_SAS_AF,C10orf2
199413,10:102750202:A>T,NM_021830.4:c.1494A>T,NP_068602.2:p.Ile498=,3/5,\N,Unknown significance,\N,synonymous_variant,0.04,0.0000863707,EXAC_AMR_AF,C10orf2
199414,10:102750203:G>C,NM_021830.4:c.1495G>C,NP_068602.2:p.Asp499His,3/5,\N,Unknown significance,\N,missense_variant,28.6,0.000116279,EVS_EA_AF,C10orf2
199415,10:102750203:G>T,NM_021830.4:c.1495G>T,NP_068602.2:p.Asp499Tyr,3/5,\N,Unknown significance,\N,missense_variant,29.8,0.000115554,EXAC_EAS_AF,C10orf2
199416,10:102750204:A>G,NM_021830.4:c.1496A>G,NP_068602.2:p.Asp499Gly,3/5,\N,Unknown significance,\N,missense_variant,27.3,0.0000605694,EXAC_SAS_AF,C10orf2
199417,10:102750210:T>G,NM_021830.4:c.1502T>G,NP_068602.2:p.Met501Arg,3/5,\N,Unknown significance,\N,missense_variant,29.4,0.0000149835,EXAC_NFE_AF,C10orf2
199418,10:102750218:G>A,NM_021830.4:c.1510G>A,NP_068602.2:p.Ala504Thr,3/5,\N,Likely pathogenic,\N,missense_variant,32,\N,\N,C10orf2
199419,10:102750223:C>G,NM_021830.4:c.1515C>G,NP_068602.2:p.Val505=,3/5,\N,Unknown significance,\N,synonymous_variant,12.54,0.000226963,EVS_AA_AF,C10orf2
199420,10:102750225:A>G,NM_021830.4:c.1517A>G,NP_068602.2:p.Tyr506Cys,3/5,\N,Unknown significance,\N,missense_variant,27,0.0000605694,EXAC_SAS_AF,C10orf2
199421,10:102750227:G>A,NM_021830.4:c.1519G>A,NP_068602.2:p.Val507Ile,3/5,\N,Pathogenic,Perrault syndrome 5; PERRAULT SYNDROME 5,missense_variant,23.5,0.001,1KG_SAS_AF,C10orf2
199422,10:102750231:A>G,NM_021830.4:c.1523A>G,NP_068602.2:p.Tyr508Cys,3/5,\N,Pathogenic,Spirocerebellar ataxia| infantile onset,missense_variant,28.5,0.00196553,EXAC_FIN_AF,C10orf2
199423,10:102750235:C>T,NM_021830.4:c.1527C>T,NP_068602.2:p.Asp509=,3/5,\N,Benign,\N,synonymous_variant,13.68,0.0082043,EXAC_EAS_AF,C10orf2
199424,10:102750238:T>C,NM_021830.4:c.1530T>C,NP_068602.2:p.Ile510=,3/5,\N,Unknown significance,\N,synonymous_variant,7.579,0.0000149835,EXAC_NFE_AF,C10orf2
199425,10:102750239:T>A,NM_021830.4:c.1531T>A,NP_068602.2:p.Cys511Ser,3/5,\N,Unknown significance,\N,missense_variant,11.98,\N,\N,C10orf2
199426,10:102750245:G>C,NM_021830.4:c.1537G>C,NP_068602.2:p.Val513Leu,3/5,\N,Unknown significance,\N,missense_variant,27.7,\N,\N,C10orf2
199427,10:102750248:A>G,NM_021830.4:c.1540A>G,NP_068602.2:p.Ile514Val,3/5,\N,Likely benign,\N,missense_variant,5.733,0.0000863707,EXAC_AMR_AF,C10orf2
199428,10:102750253:C>T,NM_021830.4:c.1545C>T,NP_068602.2:p.Ile515=,3/5,\N,Unknown significance,\N,synonymous_variant,20.2,0.0000863856,EXAC_AMR_AF,C10orf2
199429,10:102750263:C>T,NM_021830.4:c.1555C>T,NP_068602.2:p.Gln519Ter,3/5,\N,Unknown significance,\N,stop_gained,44,0.0008,1KG_AFR_AF,C10orf2
199430,10:102750272:A>G,NM_021830.4:c.1564A>G,NP_068602.2:p.Met522Val,3/5,\N,Unknown significance,\N,missense_variant,25.2,0.0000961169,EXAC_AFR_AF,C10orf2
199431,10:102750280:C>T,NM_021830.4:c.1572C>T,NP_068602.2:p.His524=,3/5,\N,Unknown significance,\N,synonymous_variant,16.97,0.0000605694,EXAC_SAS_AF,C10orf2
199432,10:102750281:G>A,NM_021830.4:c.1573G>A,NP_068602.2:p.Glu525Lys,3/5,\N,Unknown significance,\N,missense_variant,29.2,0.000226963,EVS_AA_AF,C10orf2
199433,10:102750281:G>T,NM_021830.4:c.1573G>T,NP_068602.2:p.Glu525Ter,3/5,\N,Unknown significance,\N,stop_gained,51,0.0000149849,EXAC_NFE_AF,C10orf2
199434,10:102750307:G>A,NM_021830.4:c.1592+7G>A,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,18.28,\N,\N,C10orf2
199435,10:102750325:T>C,NM_021830.4:c.1592+25T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,11.04,0.0000149889,EXAC_NFE_AF,C10orf2
199436,10:102750329:T>C,NM_021830.4:c.1592+29T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,10.23,0.000232558,EVS_EA_AF,C10orf2
199437,10:102750332:A>G,NM_021830.4:c.1592+32A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,9.398,0.0000864006,EXAC_AMR_AF,C10orf2
199438,10:102750336:C>T,NM_021830.4:c.1592+36C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,7.619,0.000226963,EVS_AA_AF,C10orf2
199439,10:102750337:G>A,NM_021830.4:c.1592+37G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,6.837,0.000115607,EXAC_EAS_AF,C10orf2
199440,10:102750345:A>C,NM_021830.4:c.1592+45A>C,\N,\N,3/4,Unknown significance,\N,intron_variant,2.58,0.0029,1KG_AMR_AF,C10orf2
199441,10:102750348:C>T,NM_021830.4:c.1592+48C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,5.88,0.000121153,EXAC_SAS_AF,C10orf2
199442,10:102750373:C>T,NM_021830.4:c.1592+73C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,14.52,\N,\N,C10orf2
199443,10:102750375:T>C,NM_021830.4:c.1592+75T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,11.76,\N,\N,C10orf2
199444,10:102750386:A>G,NM_021830.4:c.1592+86A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,9.431,0.001,1KG_EAS_AF,C10orf2
199445,10:102750403:T>A,NM_021830.4:c.1592+103T>A,\N,\N,3/4,Benign,\N,intron_variant,8.608,0.0061,1KG_AFR_AF,C10orf2
199446,10:102750418:C>T,NM_021830.4:c.1592+118C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,5.515,\N,\N,C10orf2
199447,10:102750440:G>T,NM_021830.4:c.1592+140G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,3.381,\N,\N,C10orf2
199448,10:102750452:G>A,NM_021830.4:c.1592+152G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,4.927,0.001,1KG_EUR_AF,C10orf2
199449,10:102750482:C>T,NM_021830.4:c.1593-144C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,9.718,0.001,1KG_SAS_AF,C10orf2
199450,10:102750550:T>C,NM_021830.4:c.1593-76T>C,\N,\N,3/4,Benign,\N,intron_variant,5.468,0.0106,1KG_AFR_AF,C10orf2
199451,10:102750566:ATG>A,NM_021830.4:c.1593-56_1593-55del,\N,\N,3/4,Unknown significance,\N,intron_variant,7.334,\N,\N,C10orf2
199452,10:102750571:T>A,NM_021830.4:c.1593-55T>A,\N,\N,3/4,Unknown significance,\N,intron_variant,6.561,0.002,1KG_SAS_AF,C10orf2
199453,10:102750580:G>A,NM_021830.4:c.1593-46G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,5.725,0.0014,1KG_AMR_AF,C10orf2
199454,10:102750582:CCTT>C,NM_021830.4:c.1593-41_1593-39del,\N,\N,3/4,Unknown significance,\N,intron_variant,7.925,0.0000960984,EXAC_AFR_AF,C10orf2
199455,10:102750583:C>T,NM_021830.4:c.1593-43C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,7.724,0.000060562,EXAC_SAS_AF,C10orf2
199456,10:102750586:C>T,NM_021830.4:c.1593-40C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,5.579,0.000151194,EXAC_FIN_AF,C10orf2
199457,10:102750588:G>A,NM_021830.4:c.1593-38G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,4.465,0.001,1KG_EAS_AF,C10orf2
199458,10:102750601:T>C,NM_021830.4:c.1593-25T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,10.22,0.000060562,EXAC_SAS_AF,C10orf2
199459,10:102750605:T>C,NM_021830.4:c.1593-21T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,8.409,0.0000149835,EXAC_NFE_AF,C10orf2
199460,10:102750606:GTGT>G,NM_021830.4:c.1593-14_1593-12del,\N,\N,3/4,Unknown significance,\N,intron_variant,7.662,\N,\N,C10orf2
199461,10:102750607:T>C,NM_021830.4:c.1593-19T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,4.592,0.000226963,EVS_AA_AF,C10orf2
199462,10:102750611:G>A,NM_021830.4:c.1593-15G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,7.053,\N,\N,C10orf2
199463,10:102750619:G>GAT,NM_021830.4:c.1593-7_1593-6insAT,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,3.098,0.0000960984,EXAC_AFR_AF,C10orf2
199464,10:102750620:G>A,NM_021830.4:c.1593-6G>A,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,3.816,0.0000149835,EXAC_NFE_AF,C10orf2
199465,10:102750620:G>T,NM_021830.4:c.1593-6G>T,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,2.508,0.0000863707,EXAC_AMR_AF,C10orf2
199466,10:102750621:C>T,NM_021830.4:c.1593-5C>T,\N,\N,3/4,Benign,\N,splice_region_variant&intron_variant,6.696,0.5298,1KG_EAS_AF,C10orf2
199467,10:102750621:CGT>C,NM_021830.4:c.1593-4_1593-3del,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,2.724,\N,\N,C10orf2
199468,10:102750621:CGT>TGC,NM_021830.4:c.1593-5_1593-3delinsTGC,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,\N,\N,\N,C10orf2
199469,10:102750622:G>A,NM_021830.4:c.1593-4G>A,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,4.942,0.000151194,EXAC_FIN_AF,C10orf2
199470,10:102750623:T>C,NM_021830.4:c.1593-3T>C,\N,\N,3/4,Benign,\N,splice_region_variant&intron_variant,0.058,0.552443,EXAC_EAS_AF,C10orf2
199471,10:102750629:C>T,NM_021830.4:c.1596C>T,NP_068602.2:p.Ile532=,4/5,\N,Unknown significance,\N,synonymous_variant,9.926,0.0023,1KG_AFR_AF,C10orf2
199472,10:102750630:G>A,NM_021830.4:c.1597G>A,NP_068602.2:p.Ala533Thr,4/5,\N,Unknown significance,\N,missense_variant,13.89,0.000116279,EVS_EA_AF,C10orf2
199473,10:102750632:A>C,NM_021830.4:c.1599A>C,NP_068602.2:p.Ala533=,4/5,\N,Unknown significance,\N,synonymous_variant,0.949,0.000950078,EXAC_AMR_AF,C10orf2
199474,10:102750633:G>T,NM_001163812.1:c.1600G>T,NP_001157284.1:p.Ala534Ser,4/5,\N,Unknown significance,\N,missense_variant,23,\N,\N,C10orf2
199475,10:102750642:T>C,NM_021830.4:c.1609T>C,NP_068602.2:p.Tyr537His,4/5,\N,Pathogenic,Progressive external ophthalmoplegia,missense_variant,15.07,0.000465116,EVS_EA_AF,C10orf2
199476,10:102750648:A>C,NM_021830.4:c.1615A>C,NP_068602.2:p.Ile539Leu,4/5,\N,Unknown significance,\N,missense_variant,18.43,0.0000863707,EXAC_AMR_AF,C10orf2
199477,10:102750648:A>T,NM_021830.4:c.1615A>T,NP_068602.2:p.Ile539Phe,4/5,\N,Unknown significance,\N,missense_variant,18.15,0.001,1KG_EUR_AF,C10orf2
199478,10:102750649:T>A,NM_021830.4:c.1616T>A,NP_068602.2:p.Ile539Asn,4/5,\N,Unknown significance,\N,missense_variant,27.2,0.0000149835,EXAC_NFE_AF,C10orf2
199479,10:102750650:C>G,NM_021830.4:c.1617C>G,NP_068602.2:p.Ile539Met,4/5,\N,Unknown significance,\N,missense_variant,10.19,0.000060562,EXAC_SAS_AF,C10orf2
199480,10:102750650:C>T,NM_021830.4:c.1617C>T,NP_068602.2:p.Ile539=,4/5,\N,Unknown significance,\N,synonymous_variant,15.25,0.000242248,EXAC_SAS_AF,C10orf2
199481,10:102750651:G>A,NM_021830.4:c.1618G>A,NP_068602.2:p.Gly540Arg,4/5,\N,Unknown significance,\N,missense_variant,33,0.001,1KG_EUR_AF,C10orf2
199482,10:102750653:G>T,NM_021830.4:c.1620G>T,NP_068602.2:p.Gly540=,4/5,\N,Unknown significance,\N,synonymous_variant,9.392,0.001,1KG_SAS_AF,C10orf2
199483,10:102750660:C>T,NM_021830.4:c.1627C>T,NP_068602.2:p.Arg543Trp,4/5,\N,Unknown significance,\N,missense_variant,35,0.000172741,EXAC_AMR_AF,C10orf2
199484,10:102750661:G>A,NM_021830.4:c.1628G>A,NP_068602.2:p.Arg543Gln,4/5,\N,Unknown significance,\N,missense_variant,35,0.000115554,EXAC_EAS_AF,C10orf2
199485,10:102750662:G>A,NM_021830.4:c.1629G>A,NP_068602.2:p.Arg543=,4/5,\N,Unknown significance,\N,synonymous_variant,10.74,0.000060562,EXAC_SAS_AF,C10orf2
199486,10:102750665:G>A,NM_021830.4:c.1632G>A,NP_068602.2:p.Lys544=,4/5,\N,Unknown significance,\N,synonymous_variant,12.62,0.0000149835,EXAC_NFE_AF,C10orf2
199487,10:102750679:A>G,NM_021830.4:c.1646A>G,NP_068602.2:p.Asn549Ser,4/5,\N,Likely benign,\N,missense_variant,2.527,0.000060562,EXAC_SAS_AF,C10orf2
199488,10:102750689:T>C,NM_021830.4:c.1656T>C,NP_068602.2:p.His552=,4/5,\N,Unknown significance,\N,synonymous_variant,3.928,0.0008,1KG_AFR_AF,C10orf2
199489,10:102750695:A>G,NM_021830.4:c.1662A>G,NP_068602.2:p.Thr554=,4/5,\N,Unknown significance,\N,synonymous_variant,0.834,0.000029967,EXAC_NFE_AF,C10orf2
199490,10:102750697:T>C,NM_021830.4:c.1664T>C,NP_068602.2:p.Leu555Pro,4/5,\N,Unknown significance,\N,missense_variant,29.6,0.000116279,EVS_EA_AF,C10orf2
199491,10:102750702:A>G,NM_001163812.1:c.1669A>G,NP_001157284.1:p.Ile557Val,4/5,\N,Unknown significance,\N,missense_variant,26.1,0.0000149835,EXAC_NFE_AF,C10orf2
199492,10:102750704:T>A,NM_021830.4:c.1671T>A,NP_068602.2:p.Ile557=,4/5,\N,Unknown significance,\N,synonymous_variant,14.06,0.0000863856,EXAC_AMR_AF,C10orf2
199493,10:102750710:C>T,NM_021830.4:c.1677C>T,NP_068602.2:p.Pro559=,4/5,\N,Unknown significance,\N,synonymous_variant,16.62,0.0000863856,EXAC_AMR_AF,C10orf2
199494,10:102750722:T>G,NM_021830.4:c.1689T>G,NP_068602.2:p.Asp563Glu,4/5,\N,Likely benign,\N,missense_variant,10.38,\N,\N,C10orf2
199495,10:102750730:A>G,NM_021830.4:c.1697A>G,NP_068602.2:p.Lys566Arg,4/5,\N,Benign,\N,missense_variant,18.1,0.00590104,EVS_AA_AF,C10orf2
199496,10:102750745:C>T,NM_021830.4:c.1712C>T,NP_068602.2:p.Ala571Val,4/5,\N,Unknown significance,\N,missense_variant,34,0.0000863856,EXAC_AMR_AF,C10orf2
199497,10:102750746:G>A,NM_021830.4:c.1713G>A,NP_068602.2:p.Ala571=,4/5,\N,Unknown significance,\N,synonymous_variant,14.2,0.000226963,EVS_AA_AF,C10orf2
199498,10:102750770:G>A,NM_001163812.1:c.1737G>A,NP_001157284.1:p.Val579=,4/5,\N,Unknown significance,\N,synonymous_variant,13.52,0.000116279,EVS_EA_AF,C10orf2
199499,10:102750774:G>A,NM_001163812.1:c.1741G>A,NP_001157284.1:p.Gly581Ser,4/5,\N,Likely benign,\N,missense_variant,5.602,\N,\N,C10orf2
199500,10:102750780:T>G,NM_001163812.1:c.1747T>G,NP_001157284.1:p.Ter583GluextTer8,4/5,\N,Unknown significance,\N,stop_lost,6.888,0.0000149979,EXAC_NFE_AF,C10orf2
199501,10:102750782:G>A,NM_001163812.1:c.1749G>A,NP_001157284.1:p.Ter583=,4/5,\N,Unknown significance,\N,stop_retained_variant,7.005,0.0000149997,EXAC_NFE_AF,C10orf2
199502,10:102750782:G>T,NM_001163812.1:c.1749G>T,NP_001157284.1:p.Ter583TyrextTer8,4/5,\N,Unknown significance,\N,stop_lost,5.098,0.0000864304,EXAC_AMR_AF,C10orf2
199503,10:102750783:C>A,NM_021830.4:c.1734+16C>A,\N,\N,4/4,Benign,\N,intron_variant,7.671,0.5529,EXAC_EAS_AF,C10orf2
199504,10:102750783:C>T,NM_021830.4:c.1734+16C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.611,0.000432825,EXAC_AMR_AF,C10orf2
199505,10:102750784:G>A,NM_021830.4:c.1734+17G>A,\N,\N,4/4,Benign,\N,intron_variant,6.027,0.000315401,EXAC_NFE_AF,C10orf2
199506,10:102750789:T>G,NM_021830.4:c.1734+22T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,7.568,0.000151286,EXAC_FIN_AF,C10orf2
199507,10:102750790:C>T,NM_021830.4:c.1734+23C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.576,0.0000866551,EXAC_AMR_AF,C10orf2
199508,10:102750792:A>G,NM_021830.4:c.1734+25A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,3.995,0.000116741,EXAC_EAS_AF,C10orf2
199509,10:102750820:G>T,NM_021830.4:c.1734+53G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.986,0.000151653,EXAC_FIN_AF,C10orf2
199510,10:102750827:G>C,NM_021830.4:c.1734+60G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.272,0.0031,1KG_SAS_AF,C10orf2
199511,10:102750833:C>A,NM_021830.4:c.1734+66C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.883,0.001,1KG_EUR_AF,C10orf2
199512,10:102750837:A>G,NM_021830.4:c.1734+70A>G,\N,\N,4/4,Benign,\N,intron_variant,5.141,0.0089,1KG_EAS_AF,C10orf2
199513,10:102750851:G>A,NM_021830.4:c.1734+84G>A,\N,\N,4/4,Benign,\N,intron_variant,4.388,0.5288,1KG_EAS_AF,C10orf2
199514,10:102750863:C>T,NM_021830.4:c.1734+96C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,7.069,\N,\N,C10orf2
199515,10:102750876:A>T,NM_021830.4:c.1734+109A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.011,0.0008,1KG_AFR_AF,C10orf2
199516,10:102750928:C>A,NM_021830.4:c.1734+161C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.951,0.0008,1KG_AFR_AF,C10orf2
199517,10:102750941:T>C,NM_021830.4:c.1734+174T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.161,\N,\N,C10orf2
199518,10:102750951:T>C,NM_021830.4:c.1734+184T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,1.786,0.0014,1KG_AMR_AF,C10orf2
199519,10:102751032:A>G,NM_021830.4:c.1734+265A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,5.044,0.001,1KG_EAS_AF,C10orf2
199520,10:102751072:A>G,NM_021830.4:c.1734+305A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.209,0.001,1KG_EUR_AF,C10orf2
199521,10:102751075:T>A,NM_021830.4:c.1734+308T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.16,\N,\N,C10orf2
199522,10:102751088:G>A,NM_021830.4:c.1734+321G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.32,0.0029,1KG_AMR_AF,C10orf2
199523,10:102751180:G>A,NM_021830.4:c.1734+413G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.971,0.0008,1KG_AFR_AF,C10orf2
199524,10:102751190:GCATCAGGACCAGCC>G,NM_021830.4:c.1734+426_1734+439del,\N,\N,4/4,Benign,\N,intron_variant,6.989,0.0317,1KG_AMR_AF,C10orf2
199525,10:102751220:T>C,NM_021830.4:c.1734+453T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,4.826,\N,\N,C10orf2
199526,10:102751221:A>G,NM_021830.4:c.1734+454A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,7.288,\N,\N,C10orf2
199527,10:102751224:G>A,NM_021830.4:c.1734+457G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.802,0.001,1KG_SAS_AF,C10orf2
199528,10:102751226:T>C,NM_021830.4:c.1734+459T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,5.4,0.002,1KG_EAS_AF,C10orf2
199529,10:102751231:T>C,NM_021830.4:c.1734+464T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,6.554,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,C10orf2
199530,10:102751263:G>A,NM_021830.4:c.1734+496G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.825,0.002,1KG_EAS_AF,C10orf2
199531,10:102751270:G>A,NM_021830.4:c.1734+503G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.682,\N,\N,C10orf2
199532,10:102751297:GT>G,NM_021830.4:c.1734+531del,\N,\N,4/4,Benign,\N,intron_variant,8.598,0.0058,1KG_AMR_AF,C10orf2
199533,10:102751300:C>G,NM_021830.4:c.1734+533C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,6.065,\N,\N,C10orf2
199534,10:102751316:A>G,NM_021830.4:c.1734+549A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,1.774,0.001,1KG_EUR_AF,C10orf2
199535,10:102751322:C>T,NM_021830.4:c.1734+555C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.591,0.001,1KG_SAS_AF,C10orf2
199536,10:102751328:AAG>A,NM_021830.4:c.1734+566_1734+567del,\N,\N,4/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199537,10:102751330:G>C,NM_021830.4:c.1734+563G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.361,\N,\N,C10orf2
199538,10:102751455:G>C,NM_021830.4:c.1734+688G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.919,0.001,1KG_SAS_AF,C10orf2
199539,10:102751463:G>A,NM_021830.4:c.1734+696G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.786,0.0008,1KG_AFR_AF,C10orf2
199540,10:102751464:T>C,NM_021830.4:c.1734+697T>C,\N,\N,4/4,Benign,\N,intron_variant,1.836,0.0058,1KG_AMR_AF,C10orf2
199541,10:102751495:C>T,NM_021830.4:c.1734+728C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.817,0.002,1KG_EAS_AF|1KG_SAS_AF,C10orf2
199542,10:102751508:G>A,NM_021830.4:c.1734+741G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.815,0.001,1KG_EAS_AF,C10orf2
199543,10:102751540:C>T,NM_021830.4:c.1734+773C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.507,\N,\N,C10orf2
199544,10:102751551:C>T,NM_021830.4:c.1734+784C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.504,\N,\N,C10orf2
199545,10:102751565:C>T,NM_021830.4:c.1734+798C>T,\N,\N,4/4,Benign,\N,intron_variant,0.34,0.0182,1KG_AFR_AF,C10orf2
199546,10:102751603:C>G,NM_021830.4:c.1734+836C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,12.04,\N,\N,C10orf2
199547,10:102751612:CA>C,NM_021830.4:c.1734+860del,\N,\N,4/4,Benign,\N,intron_variant,12.85,0.5308,1KG_EAS_AF,C10orf2
199548,10:102751637:C>T,NM_021830.4:c.1734+870C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.992,0.0008,1KG_AFR_AF,C10orf2
199549,10:102751638:G>A,NM_021830.4:c.1734+871G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.34,0.002,1KG_EAS_AF,C10orf2
199550,10:102751690:C>T,NM_021830.4:c.1734+923C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.925,\N,\N,C10orf2
199551,10:102751706:G>A,NM_021830.4:c.1734+939G>A,\N,\N,4/4,Benign,\N,intron_variant,0.162,0.5288,1KG_EAS_AF,C10orf2
199552,10:102751714:C>T,NM_021830.4:c.1734+947C>T,\N,\N,4/4,Benign,\N,intron_variant,1.978,0.0058,1KG_AMR_AF,C10orf2
199553,10:102751722:G>A,NM_021830.4:c.1734+955G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.139,0.001,1KG_EUR_AF,C10orf2
199554,10:102751728:C>T,NM_021830.4:c.1734+961C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.239,0.001,1KG_EAS_AF,C10orf2
199555,10:102751731:G>A,NM_021830.4:c.1734+964G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.99,0.001,1KG_SAS_AF,C10orf2
199556,10:102751735:C>G,NM_021830.4:c.1734+968C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,1.47,\N,\N,C10orf2
199557,10:102751778:A>T,NM_021830.4:c.1734+1011A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.863,\N,\N,C10orf2
199558,10:102751780:T>A,NM_021830.4:c.1734+1013T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.172,0.004,1KG_EUR_AF,C10orf2
199559,10:102751790:T>A,NM_021830.4:c.1734+1023T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.083,\N,\N,C10orf2
199560,10:102751791:A>T,NM_021830.4:c.1734+1024A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.254,\N,\N,C10orf2
199561,10:102751814:G>A,NM_021830.4:c.1734+1047G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.46,0.001,1KG_EAS_AF,C10orf2
199562,10:102751867:G>A,NM_021830.4:c.1735-1080G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.748,\N,\N,C10orf2
199563,10:102751877:T>A,NM_021830.4:c.1735-1070T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.006,\N,\N,C10orf2
199564,10:102751909:G>A,NM_021830.4:c.1735-1038G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.69,0.001,1KG_SAS_AF,C10orf2
199565,10:102751913:T>A,NM_021830.4:c.1735-1034T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.759,\N,\N,C10orf2
199566,10:102751962:CTTTTT>C,NM_021830.4:c.1735-963_1735-959del,\N,\N,4/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199567,10:102751991:G>A,NM_021830.4:c.1735-956G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.875,\N,\N,C10orf2
199568,10:102751994:G>A,NM_021830.4:c.1735-953G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.329,0.001,1KG_EAS_AF,C10orf2
199569,10:102751997:G>A,NM_021830.4:c.1735-950G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.835,\N,\N,C10orf2
199570,10:102752031:C>T,NM_021830.4:c.1735-916C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.617,0.0014,1KG_AMR_AF,C10orf2
199571,10:102752032:G>A,NM_021830.4:c.1735-915G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.845,\N,\N,C10orf2
199572,10:102752033:C>T,NM_021830.4:c.1735-914C>T,\N,\N,4/4,Benign,\N,intron_variant,1.485,0.0086,1KG_AMR_AF,C10orf2
199573,10:102752040:G>A,NM_021830.4:c.1735-907G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.875,\N,\N,C10orf2
199574,10:102752046:C>A,NM_021830.4:c.1735-901C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.333,\N,\N,C10orf2
199575,10:102752080:C>T,NM_021830.4:c.1735-867C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.087,0.0015,1KG_AFR_AF,C10orf2
199576,10:102752132:G>A,NM_021830.4:c.1735-815G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.635,\N,\N,C10orf2
199577,10:102752159:A>G,NM_021830.4:c.1735-788A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,1.154,0.0008,1KG_AFR_AF,C10orf2
199578,10:102752162:C>T,NM_021830.4:c.1735-785C>T,\N,\N,4/4,Benign,\N,intron_variant,2.448,0.5288,1KG_EAS_AF,C10orf2
199579,10:102752163:G>A,NM_021830.4:c.1735-784G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.516,0.001,1KG_SAS_AF,C10orf2
199580,10:102752204:C>T,NM_021830.4:c.1735-743C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.72,0.002,1KG_EUR_AF,C10orf2
199581,10:102752215:G>A,NM_021830.4:c.1735-732G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.275,\N,\N,C10orf2
199582,10:102752218:C>A,NM_021830.4:c.1735-729C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.572,\N,\N,C10orf2
199583,10:102752218:C>T,NM_021830.4:c.1735-729C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.397,\N,\N,C10orf2
199584,10:102752224:G>A,NM_021830.4:c.1735-723G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.121,0.001,1KG_SAS_AF,C10orf2
199585,10:102752261:C>T,NM_021830.4:c.1735-686C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.295,0.001,1KG_EAS_AF,C10orf2
199586,10:102752285:T>TA,NM_021830.4:c.1735-637dup,\N,\N,4/4,Unknown significance,\N,intron_variant,8.276,\N,\N,C10orf2
199587,10:102752311:G>A,NM_021830.4:c.1735-636G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.943,\N,\N,C10orf2
199588,10:102752311:G>GA,NM_021830.4:c.1735-634dup,\N,\N,4/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199589,10:102752325:A>G,NM_021830.4:c.1735-622A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.883,0.003,1KG_AFR_AF,C10orf2
199590,10:102752345:T>G,NM_021830.4:c.1735-602T>G,\N,\N,4/4,Benign,\N,intron_variant,0.139,0.1399,1KG_AFR_AF,C10orf2
199591,10:102752380:G>A,NM_021830.4:c.1735-567G>A,\N,\N,4/4,Benign,\N,intron_variant,7.042,0.0053,1KG_AFR_AF,C10orf2
199592,10:102752388:G>A,NM_021830.4:c.1735-559G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.189,0.001,1KG_EAS_AF,C10orf2
199593,10:102752399:G>A,NM_021830.4:c.1735-548G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,13.21,0.001,1KG_EAS_AF,C10orf2
199594,10:102752461:T>C,NM_021830.4:c.1735-486T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,1.72,\N,\N,C10orf2
199595,10:102752470:C>G,NM_021830.4:c.1735-477C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,6.975,\N,\N,C10orf2
199596,10:102752479:G>A,NM_021830.4:c.1735-468G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.909,\N,\N,C10orf2
199597,10:102752479:G>C,NM_021830.4:c.1735-468G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.459,0.002,1KG_EAS_AF,C10orf2
199598,10:102752501:T>C,NM_021830.4:c.1735-446T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,13.28,0.0015,1KG_AFR_AF,C10orf2
199599,10:102752507:A>G,NM_021830.4:c.1735-440A>G,\N,\N,4/4,Benign,\N,intron_variant,7.657,0.0119,1KG_EAS_AF,C10orf2
199600,10:102752515:A>G,NM_021830.4:c.1735-432A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,11.57,\N,\N,C10orf2
199601,10:102752529:C>T,NM_021830.4:c.1735-418C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.243,\N,\N,C10orf2
199602,10:102752543:C>CT,NM_021830.4:c.1735-393dup,\N,\N,4/4,Unknown significance,\N,intron_variant,1.77,\N,\N,C10orf2
199603,10:102752658:C>T,NM_021830.4:c.1735-289C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.177,\N,\N,C10orf2
199604,10:102752678:G>T,NM_021830.4:c.1735-269G>T,\N,\N,4/4,Benign,\N,intron_variant,0.834,0.0113,1KG_AFR_AF,C10orf2
199605,10:102752684:T>C,NM_021830.4:c.1735-263T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.096,\N,\N,C10orf2
199606,10:102752687:G>A,NM_021830.4:c.1735-260G>A,\N,\N,4/4,Benign,\N,intron_variant,1.665,0.0113,1KG_AFR_AF,C10orf2
199607,10:102752726:G>A,NM_021830.4:c.1735-221G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,10.72,0.001,1KG_EUR_AF,C10orf2
199608,10:102752732:A>T,NM_021830.4:c.1735-215A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,10.39,\N,\N,C10orf2
199609,10:102752745:G>A,NM_021830.4:c.1735-202G>A,\N,\N,4/4,Benign,\N,intron_variant,11.02,0.5288,1KG_EAS_AF,C10orf2
199610,10:102752755:G>C,NM_021830.4:c.1735-192G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,7.044,\N,\N,C10orf2
199611,10:102752768:T>TA,NM_021830.4:c.1735-179_1735-178insA,\N,\N,4/4,Unknown significance,\N,intron_variant,\N,\N,\N,C10orf2
199612,10:102752773:G>C,NM_021830.4:c.1735-174G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.772,0.0014,1KG_AMR_AF,C10orf2
199613,10:102752788:T>G,NM_021830.4:c.1735-159T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.537,0.0008,1KG_AFR_AF,C10orf2
199614,10:102752789:C>T,NM_021830.4:c.1735-158C>T,\N,\N,4/4,Benign,\N,intron_variant,3.331,0.0082,1KG_SAS_AF,C10orf2
199615,10:102752790:G>A,NM_021830.4:c.1735-157G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.156,0.0029,1KG_AMR_AF,C10orf2
199616,10:102752831:T>C,NM_021830.4:c.1735-116T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,1.501,0.001,1KG_EAS_AF,C10orf2
199617,10:102752839:A>C,NM_021830.4:c.1735-108A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.258,\N,\N,C10orf2
199618,10:102752867:C>T,NM_021830.4:c.1735-80C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.688,0.002,1KG_SAS_AF,C10orf2
199619,10:102752882:C>A,NM_021830.4:c.1735-65C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.481,0.001,1KG_EAS_AF,C10orf2
199620,10:102752883:C>A,NM_021830.4:c.1735-64C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.977,0.001,1KG_EAS_AF,C10orf2
199621,10:102752898:C>T,NM_021830.4:c.1735-49C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,4.011,0.0000605694,EXAC_SAS_AF,C10orf2
199622,10:102752900:C>G,NM_021830.4:c.1735-47C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,2.897,0.001,1KG_SAS_AF,C10orf2
199623,10:102752901:A>G,NM_021830.4:c.1735-46A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,5.107,0.0000150231,EXAC_NFE_AF,C10orf2
199624,10:102752914:C>T,NM_021830.4:c.1735-33C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.575,0.000181708,EXAC_SAS_AF,C10orf2
199625,10:102752918:C>T,NM_021830.4:c.1735-29C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,5.705,0.000045045,EXAC_NFE_AF,C10orf2
199626,10:102752923:C>T,NM_021830.4:c.1735-24C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.328,0.00369771,EXAC_EAS_AF,C10orf2
199627,10:102752925:CCTT>C,NM_021830.4:c.1735-19_1735-17del,\N,\N,4/4,Unknown significance,\N,intron_variant,8.977,0.0000991277,EXAC_AFR_AF,C10orf2
199628,10:102752926:C>T,NM_021830.4:c.1735-21C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,4.453,0.000015015,EXAC_NFE_AF,C10orf2
199629,10:102752928:T>C,NM_021830.4:c.1735-19T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,7.799,0.001,1KG_SAS_AF,C10orf2
199630,10:102752933:C>A,NM_021830.4:c.1735-14C>A,\N,\N,4/4,Benign,\N,intron_variant,10.36,0.004,1KG_EUR_AF,C10orf2
199631,10:102752933:C>T,NM_021830.4:c.1735-14C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,10.29,0.000060562,EXAC_SAS_AF,C10orf2
199632,10:102752935:CCT>C,NM_021830.4:c.1735-11_1735-10del,\N,\N,4/4,Unknown significance,\N,intron_variant,7.775,0.0000983478,EXAC_AFR_AF,C10orf2
199633,10:102752936:C>T,NM_021830.4:c.1735-11C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,7.914,0.00166314,EXAC_FIN_AF,C10orf2
199634,10:102752940:TC>T,NM_021830.4:c.1735-3del,\N,\N,4/4,Unknown significance,\N,splice_region_variant&intron_variant,1.721,0.000060562,EXAC_SAS_AF,C10orf2
199635,10:102752964:C>T,NM_021830.4:c.1752C>T,NP_068602.2:p.Asp584=,5/5,\N,Unknown significance,\N,synonymous_variant,7.022,0.0000149844,EXAC_NFE_AF,C10orf2
199636,10:102752966:A>G,NM_021830.4:c.1754A>G,NP_068602.2:p.Asn585Ser,5/5,\N,Pathogenic,Perrault syndrome 5; PERRAULT SYNDROME 5,missense_variant,20.9,0.0000299688,EXAC_NFE_AF,C10orf2
199637,10:102752968:G>A,NM_021830.4:c.1756G>A,NP_068602.2:p.Val586Ile,5/5,\N,Likely benign,\N,missense_variant,13.17,0.0000299688,EXAC_NFE_AF,C10orf2
199638,10:102752973:G>A,NM_021830.4:c.1761G>A,NP_068602.2:p.Leu587=,5/5,\N,Unknown significance,\N,synonymous_variant,1.275,0.0000149844,EXAC_NFE_AF,C10orf2
199639,10:102752979:G>A,NM_021830.4:c.1767G>A,NP_068602.2:p.Leu589=,5/5,\N,Unknown significance,\N,synonymous_variant,2.767,0.000116279,EVS_EA_AF,C10orf2
199640,10:102752987:G>A,NM_021830.4:c.1775G>A,NP_068602.2:p.Arg592Lys,5/5,\N,Unknown significance,\N,missense_variant,1.625,0.000060562,EXAC_SAS_AF,C10orf2
199641,10:102752991:G>A,NM_021830.4:c.1779G>A,NP_068602.2:p.Lys593=,5/5,\N,Unknown significance,\N,synonymous_variant,4.037,0.000014984,EXAC_NFE_AF,C10orf2
199642,10:102753000:C>T,NM_021830.4:c.1788C>T,NP_068602.2:p.Thr596=,5/5,\N,Unknown significance,\N,synonymous_variant,10.38,0.0000960984,EXAC_AFR_AF,C10orf2
199643,10:102753005:C>G,NM_021830.4:c.1793C>G,NP_068602.2:p.Pro598Arg,5/5,\N,Unknown significance,\N,missense_variant,18.13,0.0000149835,EXAC_NFE_AF,C10orf2
199644,10:102753009:G>A,NM_021830.4:c.1797G>A,NP_068602.2:p.Gly599=,5/5,\N,Unknown significance,\N,synonymous_variant,9.041,0.000226963,EVS_AA_AF,C10orf2
199645,10:102753014:G>A,NM_021830.4:c.1802G>A,NP_068602.2:p.Arg601Gln,5/5,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,C10orf2
199646,10:102753024:G>T,NM_021830.4:c.1812G>T,NP_068602.2:p.Gln604His,5/5,\N,Unknown significance,\N,missense_variant,27.4,0.000029967,EXAC_NFE_AF,C10orf2
199647,10:102753029:C>G,NM_021830.4:c.1817C>G,NP_068602.2:p.Ser606Cys,5/5,\N,Unknown significance,\N,missense_variant,24.6,0.0000149835,EXAC_NFE_AF,C10orf2
199648,10:102753036:C>A,NM_021830.4:c.1824C>A,NP_068602.2:p.Asn608Lys,5/5,\N,Unknown significance,\N,missense_variant,29.5,0.000014984,EXAC_NFE_AF,C10orf2
199649,10:102753039:C>A,NM_021830.4:c.1827C>A,NP_068602.2:p.Arg609=,5/5,\N,Unknown significance,\N,synonymous_variant,16.11,0.000116279,EVS_EA_AF,C10orf2
199650,10:102753039:C>T,NM_021830.4:c.1827C>T,NP_068602.2:p.Arg609=,5/5,\N,Unknown significance,\N,synonymous_variant,13.4,0.000060562,EXAC_SAS_AF,C10orf2
199651,10:102753049:G>C,NM_021830.4:c.1837G>C,NP_068602.2:p.Asp613His,5/5,\N,Unknown significance,\N,missense_variant,29.1,0.0000960984,EXAC_AFR_AF,C10orf2
199652,10:102753056:G>C,NM_021830.4:c.1844G>C,NP_068602.2:p.Gly615Ala,5/5,\N,Unknown significance,\N,missense_variant,27.6,0.000231107,EXAC_EAS_AF,C10orf2
199653,10:102753060:C>G,NM_021830.4:c.1848C>G,NP_068602.2:p.Val616=,5/5,\N,Unknown significance,\N,synonymous_variant,13.82,0.0000863707,EXAC_AMR_AF,C10orf2
199654,10:102753066:G>A,NM_021830.4:c.1854G>A,NP_068602.2:p.Pro618=,5/5,\N,Unknown significance,\N,synonymous_variant,12.52,0.001,1KG_SAS_AF,C10orf2
199655,10:102753087:C>T,NM_021830.4:c.1875C>T,NP_068602.2:p.Ser625=,5/5,\N,Unknown significance,\N,synonymous_variant,16.09,0.000116279,EVS_EA_AF,C10orf2
199656,10:102753092:CCTT>C,NM_021830.4:c.1883_1885del,NP_068602.2:p.Phe628del,5/5,\N,Unknown significance,\N,inframe_deletion,20.9,\N,\N,C10orf2
199657,10:102753093:C>A,NM_021830.4:c.1881C>A,NP_068602.2:p.Thr627=,5/5,\N,Unknown significance,\N,synonymous_variant,17.91,0.001,1KG_SAS_AF,C10orf2
199658,10:102753094:T>G,NM_021830.4:c.1882T>G,NP_068602.2:p.Phe628Val,5/5,\N,Unknown significance,\N,missense_variant,28.5,0.0000149862,EXAC_NFE_AF,C10orf2
199659,10:102753114:C>G,NM_021830.4:c.1902C>G,NP_068602.2:p.Asn634Lys,5/5,\N,Unknown significance,\N,missense_variant,12.6,0.0000864304,EXAC_AMR_AF,C10orf2
199660,10:102753114:C>T,NM_021830.4:c.1902C>T,NP_068602.2:p.Asn634=,5/5,\N,Unknown significance,\N,synonymous_variant,8.58,0.0000149903,EXAC_NFE_AF,C10orf2
199661,10:102753121:C>T,NM_021830.4:c.1909C>T,NP_068602.2:p.Arg637Trp,5/5,\N,Unknown significance,\N,missense_variant,31,0.000115607,EXAC_EAS_AF,C10orf2
199662,10:102753122:G>A,NM_021830.4:c.1910G>A,NP_068602.2:p.Arg637Gln,5/5,\N,Unknown significance,\N,missense_variant,25,0.0000864304,EXAC_AMR_AF,C10orf2
199663,10:102753122:G>T,NM_021830.4:c.1910G>T,NP_068602.2:p.Arg637Leu,5/5,\N,Unknown significance,\N,missense_variant,27.1,0.001,1KG_EAS_AF,C10orf2
199664,10:102753123:G>C,NM_021830.4:c.1911G>C,NP_068602.2:p.Arg637=,5/5,\N,Unknown significance,\N,synonymous_variant,3.199,\N,\N,C10orf2
199665,10:102753125:T>C,NM_021830.4:c.1913T>C,NP_068602.2:p.Leu638Pro,5/5,\N,Unknown significance,\N,missense_variant,16.89,0.000014997,EXAC_NFE_AF,C10orf2
199666,10:102753126:CAAG>C,NM_021830.4:c.1919_1921del,NP_068602.2:p.Lys640del,5/5,\N,Unknown significance,\N,inframe_deletion,17.9,\N,\N,C10orf2
199667,10:102753137:A>G,NM_021830.4:c.1925A>G,NP_068602.2:p.Lys642Arg,5/5,\N,Unknown significance,\N,missense_variant,25.2,0.000059997,EXAC_NFE_AF,C10orf2
199668,10:102753151:C>T,NM_021830.4:c.1939C>T,NP_068602.2:p.Pro647Ser,5/5,\N,Likely benign,\N,missense_variant,0.004,0.001,1KG_EUR_AF,C10orf2
199669,10:102753154:G>C,NM_021830.4:c.1942G>C,NP_068602.2:p.Val648Leu,5/5,\N,Likely benign,\N,missense_variant,0.085,0.001,1KG_EAS_AF,C10orf2
199670,10:102753160:A>C,NM_021830.4:c.1948A>C,NP_068602.2:p.Lys650Gln,5/5,\N,Unknown significance,\N,missense_variant,14.71,0.000115634,EXAC_EAS_AF,C10orf2
199671,10:102753165:G>A,NM_021830.4:c.1953G>A,NP_068602.2:p.Lys651=,5/5,\N,Unknown significance,\N,synonymous_variant,10.48,0.000193874,EXAC_AFR_AF,C10orf2
199672,10:102753166:C>T,NM_021830.4:c.1954C>T,NP_068602.2:p.Pro652Ser,5/5,\N,Likely benign,\N,missense_variant,12.3,\N,\N,C10orf2
199673,10:102753170:C>T,NM_021830.4:c.1958C>T,NP_068602.2:p.Ser653Phe,5/5,\N,Unknown significance,\N,missense_variant,24.1,0.000097012,EXAC_AFR_AF,C10orf2
199674,10:102753176:G>T,NM_021830.4:c.1964G>T,NP_068602.2:p.Gly655Val,5/5,\N,Unknown significance,\N,missense_variant,19.43,0.0000150358,EXAC_NFE_AF,C10orf2
199675,10:102753177:C>T,NM_021830.4:c.1965C>T,NP_068602.2:p.Gly655=,5/5,\N,Unknown significance,\N,synonymous_variant,11.92,0.0000150367,EXAC_NFE_AF,C10orf2
199676,10:102753186:G>A,NM_021830.4:c.1974G>A,NP_068602.2:p.Gly658=,5/5,\N,Unknown significance,\N,synonymous_variant,3.12,0.0000974089,EXAC_AFR_AF,C10orf2
199677,10:102753187:G>A,NM_021830.4:c.1975G>A,NP_068602.2:p.Ala659Thr,5/5,\N,Likely benign,\N,missense_variant,8.935,0.000180598,EXAC_NFE_AF,C10orf2
199678,10:102753191:C>T,NM_021830.4:c.1979C>T,NP_068602.2:p.Thr660Met,5/5,\N,Likely benign,\N,missense_variant,9.057,0.000606481,EXAC_AMR_AF,C10orf2
199679,10:102753192:G>A,NM_021830.4:c.1980G>A,NP_068602.2:p.Thr660=,5/5,\N,Unknown significance,\N,synonymous_variant,6.306,0.000226963,EVS_AA_AF,C10orf2
199680,10:102753195:A>G,NM_021830.4:c.1983A>G,NP_068602.2:p.Thr661=,5/5,\N,Unknown significance,\N,synonymous_variant,0.016,0.0000150602,EXAC_NFE_AF,C10orf2
199681,10:102753199:A>G,NM_021830.4:c.1987A>G,NP_068602.2:p.Asn663Asp,5/5,\N,Unknown significance,\N,missense_variant,6.155,0.0000150639,EXAC_NFE_AF,C10orf2
199682,10:102753201:C>T,NM_021830.4:c.1989C>T,NP_068602.2:p.Asn663=,5/5,\N,Unknown significance,\N,synonymous_variant,2.489,0.0000150661,EXAC_NFE_AF,C10orf2
199683,10:102753204:T>G,NM_021830.4:c.1992T>G,NP_068602.2:p.Ser664=,5/5,\N,Unknown significance,\N,synonymous_variant,2.867,0.0000301468,EXAC_NFE_AF,C10orf2
199684,10:102753212:G>A,NM_021830.4:c.2000G>A,NP_068602.2:p.Cys667Tyr,5/5,\N,Likely benign,\N,missense_variant,1.45,0.000116279,EVS_EA_AF,C10orf2
199685,10:102753214:T>C,NM_021830.4:c.2002T>C,NP_068602.2:p.Ser668Pro,5/5,\N,Likely benign,\N,missense_variant,0.144,0.0000150939,EXAC_NFE_AF,C10orf2
199686,10:102753220:C>G,NM_021830.4:c.2008C>G,NP_068602.2:p.Gln670Glu,5/5,\N,Likely benign,\N,missense_variant,3.61,0.000116252,EXAC_EAS_AF,C10orf2
199687,10:102753222:G>C,NM_021830.4:c.2010G>C,NP_068602.2:p.Gln670His,5/5,\N,Likely benign,\N,missense_variant,11.09,0.000116279,EXAC_EAS_AF,C10orf2
199688,10:102753224:C>A,NM_021830.4:c.2012C>A,NP_068602.2:p.Ala671Asp,5/5,\N,Likely benign,\N,missense_variant,0.014,0.0000302572,EXAC_NFE_AF,C10orf2
199689,10:102753227:C>G,NM_021830.4:c.2015C>G,NP_068602.2:p.Pro672Arg,5/5,\N,Likely benign,\N,missense_variant,1.055,0.000348837,EVS_EA_AF,C10orf2
199690,10:102753229:A>C,NM_021830.4:c.2017A>C,NP_068602.2:p.Thr673Pro,5/5,\N,Likely benign,\N,missense_variant,0.044,0.0000608569,EXAC_SAS_AF,C10orf2
199691,10:102753234:C>T,NM_021830.4:c.2022C>T,NP_068602.2:p.Pro674=,5/5,\N,Unknown significance,\N,synonymous_variant,10.55,0.001047,EXAC_EAS_AF,C10orf2
199692,10:102753235:G>A,NM_021830.4:c.2023G>A,NP_068602.2:p.Asp675Asn,5/5,\N,Likely benign,\N,missense_variant,0.002,0.000116387,EXAC_EAS_AF,C10orf2
199693,10:102753235:G>T,NM_021830.4:c.2023G>T,NP_068602.2:p.Asp675Tyr,5/5,\N,Likely benign,\N,missense_variant,0.001,0.000201005,EXAC_AFR_AF,C10orf2
199694,10:102753238:C>G,NM_021830.4:c.2026C>G,NP_068602.2:p.Gln676Glu,5/5,\N,Likely benign,\N,missense_variant,8.597,0.000116387,EXAC_EAS_AF,C10orf2
199695,10:102753253:A>G,NM_021830.4:c.2041A>G,NP_068602.2:p.Lys681Glu,5/5,\N,Likely benign,\N,missense_variant,14.15,0.0000304692,EXAC_NFE_AF,C10orf2
199696,10:102753257:G>A,NM_021830.4:c.2045G>A,NP_068602.2:p.Arg682His,5/5,\N,Likely benign,\N,missense_variant,9.732,0.00296632,EXAC_AMR_AF,C10orf2
199697,10:102753257:G>C,NM_021830.4:c.2045G>C,NP_068602.2:p.Arg682Pro,5/5,\N,Likely benign,\N,missense_variant,0.823,0.0000152504,EXAC_NFE_AF,C10orf2
199698,10:102753257:G>T,NM_021830.4:c.2045G>T,NP_068602.2:p.Arg682Leu,5/5,\N,Likely benign,\N,missense_variant,8.288,0.000102124,EXAC_AFR_AF,C10orf2
199699,10:102753262:A>C,NM_021830.4:c.2050A>C,NP_068602.2:p.Lys684Gln,5/5,\N,Likely benign,\N,missense_variant,0.139,0.0008,1KG_AFR_AF,C10orf2
199700,10:102753264:G>A,NM_021830.4:c.2052G>A,NP_068602.2:p.Lys684=,5/5,\N,Unknown significance,\N,synonymous_variant,6.75,\N,\N,C10orf2
199701,10:102753264:GT>G,NM_021830.4:c.2053del,NP_068602.2:p.Ter685GlufsTer15,5/5,\N,Unknown significance,\N,frameshift_variant&stop_lost,26.2,0.0000611172,EXAC_SAS_AF,C10orf2
199702,10:102753269:G>A,NM_021830.4:c.*2G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.719,0.0000154069,EXAC_NFE_AF,C10orf2
199703,10:102753270:G>A,NM_021830.4:c.*3G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.477,\N,\N,C10orf2
199704,10:102753271:CCGTG>C,NM_021830.4:c.*6_*9del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.332,\N,\N,C10orf2
199705,10:102753273:G>A,NM_021830.4:c.*6G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.728,0.001,1KG_EUR_AF,C10orf2
199706,10:102753280:G>GGACTGGCCATTCCT,NM_021830.4:c.*13_*14insGACTGGCCATTCCT,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.473,\N,\N,C10orf2
199707,10:102753285:T>C,NM_021830.4:c.*18T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.812,0.0000158108,EXAC_NFE_AF,C10orf2
199708,10:102753286:C>G,NM_021830.4:c.*19C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.31,0.0000158469,EXAC_NFE_AF,C10orf2
199709,10:102753286:C>T,NM_021830.4:c.*19C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.91,0.0000909918,EXAC_AMR_AF,C10orf2
199710,10:102753290:GA>G,NM_021830.4:c.*26del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.87,0.0000159357,EXAC_NFE_AF,C10orf2
199711,10:102753290:G>A,NM_021830.4:c.*23G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.618,0.0000622898,EXAC_SAS_AF,C10orf2
199712,10:102753292:A>C,NM_021830.4:c.*25A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.435,0.000619272,EXAC_EAS_AF,C10orf2
199713,10:102753309:A>G,NM_021830.4:c.*42A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.179,\N,\N,C10orf2
199714,10:102753311:G>C,NM_021830.4:c.*44G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.737,0.000133298,EXAC_EAS_AF,C10orf2
199715,10:102753312:C>G,NM_021830.4:c.*45C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.439,0.0000168833,EXAC_NFE_AF,C10orf2
199716,10:102753317:G>A,NM_021830.4:c.*50G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.569,0.000139276,EXAC_EAS_AF,C10orf2
199717,10:102753319:A>G,NM_021830.4:c.*52A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.872,0.002,1KG_SAS_AF,C10orf2
199718,10:102753341:C>G,NM_021830.4:c.*74C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.501,0.001,1KG_SAS_AF,C10orf2
199719,10:102753354:C>G,NM_021830.4:c.*87C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.807,0.001,1KG_EAS_AF,C10orf2
199720,10:102753439:G>GT,NM_021830.4:c.*172_*173insT,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,C10orf2
199721,10:102753442:A>T,NM_021830.4:c.*175A>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.556,0.0029,1KG_AMR_AF,C10orf2
199722,10:102753444:T>C,NM_021830.4:c.*177T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.997,0.003,1KG_EAS_AF,C10orf2
199723,10:102753445:A>C,NM_021830.4:c.*178A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.175,\N,\N,C10orf2
199724,10:102753458:G>A,NM_021830.4:c.*191G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.353,\N,\N,C10orf2
199725,10:102753471:G>A,NM_021830.4:c.*204G>A,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,10.64,0.0328,1KG_EUR_AF,C10orf2
199726,10:102753474:C>T,NM_021830.4:c.*207C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,12.07,0.0014,1KG_AMR_AF,C10orf2
199727,10:102753528:C>T,NM_021830.4:c.*261C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.688,\N,\N,C10orf2
199728,10:102753529:G>A,NM_021830.4:c.*262G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.025,0.001,1KG_EUR_AF,C10orf2
199729,10:102753560:C>A,NM_021830.4:c.*293C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.657,\N,\N,C10orf2
199730,10:102753568:C>T,NM_021830.4:c.*301C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,8.344,0.0058,1KG_AMR_AF,C10orf2
199731,10:102753589:G>T,NM_021830.4:c.*322G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.772,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,C10orf2
199732,10:102753605:T>A,NM_021830.4:c.*338T>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.468,\N,\N,C10orf2
199733,10:102753614:G>A,NM_021830.4:c.*347G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.014,\N,\N,C10orf2
199734,10:102753629:T>A,NM_021830.4:c.*362T>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.437,\N,\N,C10orf2
199735,10:102753629:T>C,NM_021830.4:c.*362T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.342,0.001,1KG_SAS_AF,C10orf2
199736,10:102753634:A>G,NM_021830.4:c.*367A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.932,0.001,1KG_EAS_AF,C10orf2
199737,10:102753684:C>T,NM_021830.4:c.*417C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.036,0.001,1KG_SAS_AF,C10orf2
199738,10:102753686:A>T,NM_021830.4:c.*419A>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,8.8,0.008,1KG_EUR_AF,C10orf2
199739,10:102753707:C>T,NM_021830.4:c.*440C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.443,\N,\N,C10orf2
199740,10:102753709:C>T,NM_021830.4:c.*442C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.552,0.0043,1KG_AMR_AF,C10orf2
199741,10:102753718:C>G,NM_021830.4:c.*451C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.589,\N,\N,C10orf2
199742,10:102753720:G>A,NM_021830.4:c.*453G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.07,\N,\N,C10orf2
199743,10:102753722:C>T,NM_021830.4:c.*455C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,7.724,0.0151,1KG_AFR_AF,C10orf2
199744,10:102753723:G>A,NM_021830.4:c.*456G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.453,0.001,1KG_SAS_AF,C10orf2
199745,10:102753737:CAG>C,NM_021830.4:c.*476_*477del,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,14.86,0.0227,1KG_AFR_AF,C10orf2
199746,10:102753784:G>T,NM_021830.4:c.*517G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.811,0.001,1KG_SAS_AF,C10orf2
199747,10:102753788:C>G,NM_021830.4:c.*521C>G,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,4.181,0.1342,1KG_EUR_AF,C10orf2
199748,10:102753791:G>A,NM_021830.4:c.*524G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.918,0.0015,1KG_AFR_AF,C10orf2
199749,10:102753807:C>T,NM_021830.4:c.*540C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.773,0.0008,1KG_AFR_AF,C10orf2
199750,10:102753819:G>C,NM_021830.4:c.*552G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.203,\N,\N,C10orf2
199751,10:102753829:G>A,NM_021830.4:c.*562G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.577,0.0008,1KG_AFR_AF,C10orf2
199752,10:102753831:G>C,NM_021830.4:c.*564G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.301,\N,\N,C10orf2
199753,10:102753857:G>T,NM_021830.4:c.*590G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.853,\N,\N,C10orf2
199754,10:102753858:C>G,NM_021830.4:c.*591C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.32,0.0014,1KG_AMR_AF,C10orf2
199755,10:102753864:A>G,NM_021830.4:c.*597A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.209,\N,\N,C10orf2
199756,10:102753880:C>A,NM_021830.4:c.*613C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.339,\N,\N,C10orf2
199757,10:102753888:A>C,NM_021830.4:c.*621A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.372,0.0014,1KG_AMR_AF,C10orf2
199758,10:102753916:G>C,NM_021830.4:c.*649G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,14.05,0.0014,1KG_AMR_AF,C10orf2
199759,10:102753966:C>T,NM_021830.4:c.*699C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.828,0.0008,1KG_AFR_AF,C10orf2
199760,10:102753976:C>G,NM_021830.4:c.*709C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.145,\N,\N,C10orf2
199761,10:102753986:C>T,NM_021830.4:c.*719C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.659,\N,\N,C10orf2
199762,10:102754010:G>A,NM_021830.4:c.*743G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.995,0.001,1KG_EAS_AF,C10orf2
199763,10:102754033:A>T,NM_021830.4:c.*766A>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,0.13,0.5288,1KG_EAS_AF,C10orf2
199764,10:102754059:G>C,NM_021830.4:c.*792G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.897,\N,\N,C10orf2
199765,10:102754063:C>T,NM_021830.4:c.*796C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.625,\N,\N,C10orf2
199766,10:102754077:C>A,NM_021830.4:c.*810C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.668,\N,\N,C10orf2
199767,10:102754137:T>C,NM_021830.4:c.*870T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,15.09,\N,\N,C10orf2
199768,10:102754142:A>G,NM_021830.4:c.*875A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,12.39,\N,\N,C10orf2
199769,10:102754148:T>A,NM_021830.4:c.*881T>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,16.07,\N,\N,C10orf2
199770,10:102754157:T>C,NM_021830.4:c.*890T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,13.6,\N,\N,C10orf