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
247071,11:67286429:G>C,NM_001318496.1:c.*181C>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.547,0.001,1KG_EUR_AF,CABP2
247072,11:67286437:G>A,NM_001318496.1:c.*173C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.489,0.001,1KG_SAS_AF,CABP2
247073,11:67286444:T>C,NM_001318496.1:c.*166A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,1.196,\N,\N,CABP2
247074,11:67286457:G>T,NM_001318496.1:c.*153C>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.526,\N,\N,CABP2
247075,11:67286461:G>A,NM_001318496.1:c.*149C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.557,0.001,1KG_SAS_AF,CABP2
247076,11:67286520:C>T,NM_001318496.1:c.*90G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.29,0.001,1KG_EAS_AF,CABP2
247077,11:67286529:C>T,NM_001318496.1:c.*81G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.188,0.001,1KG_SAS_AF,CABP2
247078,11:67286561:A>C,NM_001318496.1:c.*49T>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,5.69,0.000227273,EVS_AA_AF,CABP2
247079,11:67286561:A>T,NM_001318496.1:c.*49T>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.744,0.000115554,EXAC_EAS_AF,CABP2
247080,11:67286562:G>A,NM_001318496.1:c.*48C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,8.201,0.0000299931,EXAC_NFE_AF,CABP2
247081,11:67286567:T>G,NM_001318496.1:c.*43A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.638,\N,\N,CABP2
247082,11:67286571:C>T,NM_001318496.1:c.*39G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.668,0.0000299904,EXAC_NFE_AF,CABP2
247083,11:67286577:G>A,NM_001318496.1:c.*33C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,10.32,0.000115554,EXAC_EAS_AF,CABP2
247084,11:67286580:C>G,NM_001318496.1:c.*30G>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.322,0.000164922,EXAC_NFE_AF,CABP2
247085,11:67286583:T>C,NM_001318496.1:c.*27A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.494,0.0000149907,EXAC_NFE_AF,CABP2
247086,11:67286586:G>A,NM_001318496.1:c.*24C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,12.06,0.0000607091,EXAC_SAS_AF,CABP2
247087,11:67286592:T>C,NM_001318496.1:c.*18A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,13.73,0.000192567,EXAC_AFR_AF,CABP2
247088,11:67286596:G>C,NM_001318496.1:c.*14C>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,13.35,0.0000149889,EXAC_NFE_AF,CABP2
247089,11:67286604:A>G,NM_001318496.1:c.*6T>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.683,0.0000299751,EXAC_NFE_AF,CABP2
247090,11:67286608:G>T,NM_001318496.1:c.*2C>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,10.23,0.000121315,EXAC_SAS_AF,CABP2
247091,11:67286609:C>T,NM_001318496.1:c.*1G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,11.63,0.0000299778,EXAC_NFE_AF,CABP2
247092,11:67286614:C>T,NM_016366.2:c.659G>A,NP_057450.2:p.Arg220Gln,7/7,\N,Unknown significance,\N,missense_variant,33,0.0014,1KG_AMR_AF,CABP2
247093,11:67286618:A>G,NM_016366.2:c.655T>C,NP_057450.2:p.Ser219Pro,7/7,\N,Unknown significance,\N,missense_variant,27.2,0.0000863856,EXAC_AMR_AF,CABP2
247094,11:67286619:C>T,NM_016366.2:c.654G>A,NP_057450.2:p.Met218Ile,7/7,\N,Unknown significance,\N,missense_variant,28.4,0.00439205,EXAC_EAS_AF,CABP2
247095,11:67286626:C>T,NM_016366.2:c.647G>A,NP_057450.2:p.Arg216Gln,7/7,\N,Unknown significance,\N,missense_variant,26.6,0.00127109,EXAC_EAS_AF,CABP2
247096,11:67286627:G>A,NM_001318496.1:c.664C>T,NP_001305425.1:p.Arg222Ter,7/7,\N,Unknown significance,\N,stop_gained,41,0.0000149871,EXAC_NFE_AF,CABP2
247097,11:67286638:G>T,NM_001318496.1:c.656-3C>A,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,10.85,0.0000149876,EXAC_NFE_AF,CABP2
247098,11:67286640:C>T,NM_001318496.1:c.656-5G>A,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,9.332,\N,\N,CABP2
247099,11:67286645:C>T,NM_001318496.1:c.656-10G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,8.237,0.0015,1KG_AFR_AF,CABP2
247100,11:67286646:G>T,NM_001318496.1:c.656-11C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,3.803,0.0000149876,EXAC_NFE_AF,CABP2
247101,11:67286648:A>G,NM_001318496.1:c.656-13T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,8.347,0.0000606281,EXAC_SAS_AF,CABP2
247102,11:67286653:A>G,NM_001318496.1:c.656-18T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.951,0.001,1KG_EUR_AF,CABP2
247103,11:67286654:G>A,NM_001318496.1:c.656-19C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,4.924,0.000116414,EVS_EA_AF,CABP2
247104,11:67286659:T>A,NM_001318496.1:c.656-24A>T,\N,\N,6/6,Unknown significance,\N,intron_variant,7.779,0.000116414,EVS_EA_AF,CABP2
247105,11:67286668:T>C,NM_001318496.1:c.656-33A>G,\N,\N,6/6,Benign,\N,intron_variant,3.36,0.1467,1KG_AFR_AF,CABP2
247106,11:67286679:C>T,NM_001318496.1:c.656-44G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.955,0.00272727,EVS_AA_AF,CABP2
247107,11:67286680:G>A,NM_001318496.1:c.656-45C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.932,0.000192567,EXAC_AFR_AF,CABP2
247108,11:67286680:G>T,NM_001318496.1:c.656-45C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.769,0.0000962835,EXAC_AFR_AF,CABP2
247109,11:67286681:C>G,NM_001318496.1:c.656-46G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,3.057,0.0000149916,EXAC_NFE_AF,CABP2
247110,11:67286695:C>A,NM_001318496.1:c.656-60G>T,\N,\N,6/6,Unknown significance,\N,intron_variant,3.424,0.001,1KG_EUR_AF,CABP2
247111,11:67286709:G>A,NM_001318496.1:c.656-74C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,5.362,\N,\N,CABP2
247112,11:67286713:C>T,NM_001318496.1:c.656-78G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.861,\N,\N,CABP2
247113,11:67286714:G>A,NM_001318496.1:c.656-79C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.193,0.003,1KG_AFR_AF,CABP2
247114,11:67286717:T>C,NM_001318496.1:c.656-82A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,4.87,\N,\N,CABP2
247115,11:67286735:G>T,NM_001318496.1:c.656-100C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,1.658,\N,\N,CABP2
247116,11:67286786:C>T,NM_001318496.1:c.656-151G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.529,\N,\N,CABP2
247117,11:67286787:G>A,NM_001318496.1:c.656-152C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,2.384,\N,\N,CABP2
247118,11:67286801:T>C,NM_001318496.1:c.656-166A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,8.716,\N,\N,CABP2
247119,11:67286809:T>C,NM_001318496.1:c.656-174A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,1.668,\N,\N,CABP2
247120,11:67286816:A>C,NM_001318496.1:c.656-181T>G,\N,\N,6/6,Unknown significance,\N,intron_variant,0.509,\N,\N,CABP2
247121,11:67286905:C>G,NM_001318496.1:c.656-270G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,2.205,\N,\N,CABP2
247122,11:67286918:C>T,NM_001318496.1:c.656-283G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,4.017,0.001,1KG_EUR_AF,CABP2
247123,11:67286920:T>C,NM_001318496.1:c.656-285A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,2.417,\N,\N,CABP2
247124,11:67286953:T>C,NM_001318496.1:c.655+311A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,2.218,\N,\N,CABP2
247125,11:67286964:CT>C,NM_001318496.1:c.655+299del,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247126,11:67287010:C>G,NM_001318496.1:c.655+254G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,8.245,0.0014,1KG_AMR_AF,CABP2
247127,11:67287011:T>G,NM_001318496.1:c.655+253A>C,\N,\N,6/6,Unknown significance,\N,intron_variant,9.529,0.0014,1KG_AMR_AF,CABP2
247128,11:67287032:T>G,NM_001318496.1:c.655+232A>C,\N,\N,6/6,Unknown significance,\N,intron_variant,5.948,0.001,1KG_SAS_AF,CABP2
247129,11:67287106:A>G,NM_001318496.1:c.655+158T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,7.758,0.0014,1KG_AMR_AF,CABP2
247130,11:67287224:C>T,NM_001318496.1:c.655+40G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.04,0.000115714,EXAC_EAS_AF,CABP2
247131,11:67287236:G>A,NM_001318496.1:c.655+28C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,4.902,0.0000301214,EXAC_NFE_AF,CABP2
247132,11:67287237:T>C,NM_001318496.1:c.655+27A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,4.025,0.00011566,EXAC_EAS_AF,CABP2
247133,11:67287239:T>C,NM_001318496.1:c.655+25A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,0.355,0.0000150584,EXAC_NFE_AF,CABP2
247134,11:67287242:T>G,NM_001318496.1:c.655+22A>C,\N,\N,6/6,Unknown significance,\N,intron_variant,5.217,0.000115634,EXAC_EAS_AF,CABP2
247135,11:67287250:G>A,NM_001318496.1:c.655+14C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,2.654,\N,\N,CABP2
247136,11:67287253:G>A,NM_001318496.1:c.655+11C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,6.272,0.000481139,EXAC_AFR_AF,CABP2
247137,11:67287257:G>C,NM_001318496.1:c.655+7C>G,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,0.478,0.002,1KG_EAS_AF,CABP2
247138,11:67287258:G>A,NM_001318496.1:c.655+6C>T,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,0.43,0.000227273,EVS_AA_AF,CABP2
247139,11:67287259:G>A,NM_001318496.1:c.655+5C>T,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,8.19,0.000061267,EXAC_SAS_AF,CABP2
247140,11:67287260:G>A,NM_001318496.1:c.655+4C>T,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,9.712,0.0014,1KG_AMR_AF,CABP2
247141,11:67287263:C>A,NM_001318496.1:c.655+1G>T,\N,\N,6/6,Pathogenic,Hearing impairment| autosomal recessive,splice_donor_variant,25.3,0.00484702,EXAC_FIN_AF,CABP2
247142,11:67287269:A>G,NM_016366.2:c.632T>C,NP_057450.2:p.Phe211Ser,6/7,\N,Unknown significance,\N,missense_variant,29.8,0.0000609682,EXAC_SAS_AF,CABP2
247143,11:67287282:C>T,NM_016366.2:c.619G>A,NP_057450.2:p.Gly207Ser,6/7,\N,Unknown significance,\N,missense_variant,34,0.000454545,EVS_AA_AF,CABP2
247144,11:67287285:C>T,NM_016366.2:c.616G>A,NP_057450.2:p.Asp206Asn,6/7,\N,Unknown significance,\N,missense_variant,32,0.000115687,EXAC_EAS_AF,CABP2
247145,11:67287287:C>G,NM_016366.2:c.614G>C,NP_057450.2:p.Gly205Ala,6/7,\N,Unknown significance,\N,missense_variant,26.8,0.0000150177,EXAC_NFE_AF,CABP2
247146,11:67287287:C>T,NM_016366.2:c.614G>A,NP_057450.2:p.Gly205Glu,6/7,\N,Unknown significance,\N,missense_variant,31,\N,\N,CABP2
247147,11:67287290:T>C,NM_016366.2:c.611A>G,NP_057450.2:p.Asn204Ser,6/7,\N,Unknown significance,\N,missense_variant,25,0.000227273,EVS_AA_AF,CABP2
247148,11:67287294:G>T,NM_016366.2:c.607C>A,NP_057450.2:p.Leu203Ile,6/7,\N,Unknown significance,\N,missense_variant,23.7,0.0000606722,EXAC_SAS_AF,CABP2
247149,11:67287299:A>G,NM_016366.2:c.602T>C,NP_057450.2:p.Val201Ala,6/7,\N,Likely benign,\N,missense_variant,14.83,0.0000150218,EXAC_NFE_AF,CABP2
247150,11:67287304:C>T,NM_001318496.1:c.615G>A,NP_001305425.1:p.Gln205=,6/7,\N,Unknown significance,\N,synonymous_variant,10.18,0.0000606649,EXAC_SAS_AF,CABP2
247151,11:67287311:A>G,NM_016366.2:c.590T>C,NP_057450.2:p.Ile197Thr,6/7,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,26.1,0.003,1KG_EUR_AF,CABP2
247152,11:67287312:T>C,NM_016366.2:c.589A>G,NP_057450.2:p.Ile197Val,6/7,\N,Likely benign,\N,missense_variant,11.56,\N,\N,CABP2
247153,11:67287315:C>T,NM_016366.2:c.586G>A,NP_057450.2:p.Glu196Lys,6/7,\N,Unknown significance,\N,missense_variant,34,0.000232829,EVS_EA_AF,CABP2
247154,11:67287316:G>A,NM_001318496.1:c.603C>T,NP_001305425.1:p.Asp201=,6/7,\N,Unknown significance,\N,synonymous_variant,7.982,0.00111111,EXAC_OTH_AF,CABP2
247155,11:67287326:C>T,NM_016366.2:c.575G>A,NP_057450.2:p.Arg192Gln,6/7,\N,Unknown significance,\N,missense_variant,28.9,0.000115955,EXAC_EAS_AF,CABP2
247156,11:67287327:G>A,NM_016366.2:c.574C>T,NP_057450.2:p.Arg192Trp,6/7,\N,Unknown significance,\N,missense_variant,34,0.000227273,EVS_AA_AF,CABP2
247157,11:67287327:G>T,NM_001318496.1:c.592C>A,NP_001305425.1:p.Arg198=,6/7,\N,Unknown significance,\N,synonymous_variant,12.46,0.0000866551,EXAC_AMR_AF,CABP2
247158,11:67287331:G>A,NM_001318496.1:c.588C>T,NP_001305425.1:p.Ser196=,6/7,\N,Unknown significance,\N,synonymous_variant,10.31,0.0000150739,EXAC_NFE_AF,CABP2
247159,11:67287332:C>G,NM_016366.2:c.569G>C,NP_057450.2:p.Ser190Thr,6/7,\N,Likely benign,\N,missense_variant,8.704,0.0000150761,EXAC_NFE_AF,CABP2
247160,11:67287338:C>T,NM_016366.2:c.563G>A,NP_057450.2:p.Arg188His,6/7,\N,Unknown significance,\N,missense_variant,29.2,0.000425273,EXAC_SAS_AF,CABP2
247161,11:67287339:G>T,NM_016366.2:c.562C>A,NP_057450.2:p.Arg188Ser,6/7,\N,Unknown significance,\N,missense_variant,33,0.0000869263,EXAC_AMR_AF,CABP2
247162,11:67287346:C>A,NM_001318496.1:c.573G>T,NP_001305425.1:p.Leu191=,6/7,\N,Unknown significance,\N,synonymous_variant,15.81,0.001,1KG_SAS_AF,CABP2
247163,11:67287346:C>G,NM_001318496.1:c.573G>C,NP_001305425.1:p.Leu191=,6/7,\N,Unknown significance,\N,synonymous_variant,11.21,0.0000151345,EXAC_NFE_AF,CABP2
247164,11:67287354:C>T,NM_016366.2:c.547G>A,NP_057450.2:p.Ala183Thr,6/7,\N,Benign,\N,missense_variant,21.8,0.005,1KG_EAS_AF,CABP2
247165,11:67287357:T>G,NM_016366.2:c.544A>C,NP_057450.2:p.Lys182Gln,6/7,\N,Unknown significance,\N,missense_variant,23.8,0.000118036,EXAC_EAS_AF,CABP2
247166,11:67287360:G>T,NM_016366.2:c.541C>A,NP_057450.2:p.Leu181Ile,6/7,\N,Unknown significance,\N,missense_variant,27,\N,\N,CABP2
247167,11:67287363:C>A,NM_016366.2:c.538G>T,NP_057450.2:p.Ala180Ser,6/7,\N,Unknown significance,\N,missense_variant,26.2,0.0000880747,EXAC_AMR_AF,CABP2
247168,11:67287364:C>T,NM_001318496.1:c.555G>A,NP_001305425.1:p.Ala185=,6/7,\N,Unknown significance,\N,synonymous_variant,18.86,0.0000153417,EXAC_NFE_AF,CABP2
247169,11:67287367:C>T,NM_001318496.1:c.552G>A,NP_001305425.1:p.Arg184=,6/7,\N,Unknown significance,\N,synonymous_variant,16.04,0.0000615764,EXAC_SAS_AF,CABP2
247170,11:67287368:C>T,NM_016366.2:c.533G>A,NP_057450.2:p.Arg178Gln,6/7,\N,Unknown significance,\N,missense_variant,35,0.000431247,EXAC_SAS_AF,CABP2
247171,11:67287369:G>A,NM_016366.2:c.532C>T,NP_057450.2:p.Arg178Trp,6/7,\N,Unknown significance,\N,missense_variant,33,0.00115207,EXAC_OTH_AF,CABP2
247172,11:67287370:G>A,NM_001318496.1:c.549C>T,NP_001305425.1:p.Leu183=,6/7,\N,Unknown significance,\N,synonymous_variant,10.21,0.0000885112,EXAC_AMR_AF,CABP2
247173,11:67287376:G>C,NM_001318496.1:c.543C>G,NP_001305425.1:p.Gly181=,6/7,\N,Unknown significance,\N,synonymous_variant,9.862,0.0000891266,EXAC_AMR_AF,CABP2
247174,11:67287377:C>A,NM_016366.2:c.524G>T,NP_057450.2:p.Gly175Val,6/7,\N,Likely benign,\N,missense_variant,17.49,0.0000155598,EXAC_NFE_AF,CABP2
247175,11:67287379:C>T,NM_001318496.1:c.540G>A,NP_001305425.1:p.Val180=,6/7,\N,Unknown significance,\N,synonymous_variant,13.19,0.000121536,EXAC_EAS_AF,CABP2
247176,11:67287381:C>T,NM_016366.2:c.520G>A,NP_057450.2:p.Val174Met,6/7,\N,Likely benign,\N,missense_variant,19.76,0.000116442,EVS_EA_AF,CABP2
247177,11:67287382:G>A,NM_001318496.1:c.537C>T,NP_001305425.1:p.Ser179=,6/7,\N,Unknown significance,\N,synonymous_variant,14.78,0.0000897827,EXAC_AMR_AF,CABP2
247178,11:67287385:G>A,NM_001318496.1:c.534C>T,NP_001305425.1:p.Ile178=,6/7,\N,Unknown significance,\N,synonymous_variant,11.81,0.000245038,EXAC_EAS_AF,CABP2
247179,11:67287387:T>A,NM_016366.2:c.514A>T,NP_057450.2:p.Ile172Phe,6/7,\N,Unknown significance,\N,missense_variant,29.5,0.000270319,EXAC_AMR_AF,CABP2
247180,11:67287388:G>A,NM_001318496.1:c.531C>T,NP_001305425.1:p.Arg177=,6/7,\N,Unknown significance,\N,synonymous_variant,11.08,\N,\N,CABP2
247181,11:67287391:G>A,NM_001318496.1:c.528C>T,NP_001305425.1:p.Gly176=,6/7,\N,Unknown significance,\N,synonymous_variant,10.38,0.00318471,EVS_AA_AF,CABP2
247182,11:67287394:G>A,NM_001318496.1:c.525C>T,NP_001305425.1:p.Asp175=,6/7,\N,Unknown significance,\N,synonymous_variant,11.22,0.000104102,EXAC_AFR_AF,CABP2
247183,11:67287403:G>A,NM_001318496.1:c.516C>T,NP_001305425.1:p.Thr172=,6/7,\N,Unknown significance,\N,synonymous_variant,8.344,0.0000919794,EXAC_AMR_AF,CABP2
247184,11:67287404:G>A,NM_016366.2:c.497C>T,NP_057450.2:p.Thr166Ile,6/7,\N,Unknown significance,\N,missense_variant,23.9,0.00012604,EXAC_EAS_AF,CABP2
247185,11:67287406:G>A,NM_001318496.1:c.513C>T,NP_001305425.1:p.Asp171=,6/7,\N,Unknown significance,\N,synonymous_variant,3.27,0.0000924044,EXAC_AMR_AF,CABP2
247186,11:67287410:A>G,NM_016366.2:c.491T>C,NP_057450.2:p.Phe164Ser,6/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.9,0.000063955,EXAC_SAS_AF,CABP2
247187,11:67287411:ACTGTGGCGGCGTTGGTTGTGGCGT>A,NM_001318496.1:c.508-24_508-1del,\N,\N,5/6,Unknown significance,\N,splice_acceptor_variant&intron_variant,25.2,\N,\N,CABP2
247188,11:67287418:C>A,NM_001318496.1:c.508-7G>T,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,12.66,0.0000165338,EXAC_NFE_AF,CABP2
247189,11:67287418:C>T,NM_001318496.1:c.508-7G>A,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,12.55,0.0000165338,EXAC_NFE_AF,CABP2
247190,11:67287419:G>A,NM_001318496.1:c.508-8C>T,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,12.58,0.0000331444,EXAC_NFE_AF,CABP2
247191,11:67287421:C>T,NM_001318496.1:c.508-10G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,15.38,0.0000166179,EXAC_NFE_AF,CABP2
247192,11:67287426:G>A,NM_001318496.1:c.508-15C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,10.74,0.0000651551,EXAC_SAS_AF,CABP2
247193,11:67287433:C>T,NM_001318496.1:c.508-22G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,9.661,0.0000659892,EXAC_SAS_AF,CABP2
247194,11:67287434:G>A,NM_001318496.1:c.508-23C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,8.268,0.0000657722,EXAC_SAS_AF,CABP2
247195,11:67287446:A>G,NM_001318496.1:c.508-35T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,2.927,0.0014,1KG_AMR_AF,CABP2
247196,11:67287451:C>T,NM_001318496.1:c.508-40G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,7.975,0.0000989903,EXAC_AMR_AF,CABP2
247197,11:67287452:A>T,NM_001318496.1:c.508-41T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,1.784,0.0000343466,EXAC_NFE_AF,CABP2
247198,11:67287453:T>C,NM_001318496.1:c.508-42A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,4.054,0.0000171804,EXAC_NFE_AF,CABP2
247199,11:67287457:C>T,NM_001318496.1:c.508-46G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.182,0.0000674491,EXAC_SAS_AF,CABP2
247200,11:67287459:C>T,NM_001318496.1:c.508-48G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.611,0.0000677231,EXAC_SAS_AF,CABP2
247201,11:67287469:C>T,NM_001318496.1:c.507+53G>A,\N,\N,5/6,Benign,\N,intron_variant,6.46,0.0133,1KG_SAS_AF,CABP2
247202,11:67287472:A>T,NM_001318496.1:c.507+50T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,2.559,0.0000165536,EXAC_NFE_AF,CABP2
247203,11:67287477:C>T,NM_001318496.1:c.507+45G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.583,0.001,1KG_EAS_AF,CABP2
247204,11:67287478:G>C,NM_001318496.1:c.507+44C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,0.458,0.0000953834,EXAC_AMR_AF,CABP2
247205,11:67287483:A>T,NM_001318496.1:c.507+39T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,6.508,0.000883169,EXAC_EAS_AF,CABP2
247206,11:67287488:C>T,NM_001318496.1:c.507+34G>A,\N,\N,5/6,Benign,\N,intron_variant,7.828,0.0192416,EXAC_AMR_AF,CABP2
247207,11:67287490:GC>G,NM_001318496.1:c.507+31del,\N,\N,5/6,Unknown significance,\N,intron_variant,7.325,\N,\N,CABP2
247208,11:67287492:C>G,NM_001318496.1:c.507+30G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,6.746,0.0000925754,EXAC_AMR_AF,CABP2
247209,11:67287492:C>T,NM_001318496.1:c.507+30G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,8.041,0.0000644413,EXAC_SAS_AF,CABP2
247210,11:67287499:G>A,NM_001318496.1:c.507+23C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,5.737,0.0000636213,EXAC_SAS_AF,CABP2
247211,11:67287507:C>G,NM_001318496.1:c.507+15G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,2.919,0.000102902,EXAC_AFR_AF,CABP2
247212,11:67287510:C>T,NM_001318496.1:c.507+12G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,8.16,0.000116414,EVS_EA_AF,CABP2
247213,11:67287512:G>C,NM_001318496.1:c.507+10C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,10.72,0.000119133,EXAC_EAS_AF,CABP2
247214,11:67287512:G>T,NM_001318496.1:c.507+10C>A,\N,\N,5/6,Unknown significance,\N,intron_variant,11.25,0.000031141,EXAC_NFE_AF,CABP2
247215,11:67287517:C>T,NM_001318496.1:c.507+5G>A,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,15.1,0.001,1KG_EAS_AF,CABP2
247216,11:67287527:G>A,NM_016366.2:c.484C>T,NP_057450.2:p.Arg162Trp,5/7,\N,Unknown significance,\N,missense_variant,34,0.0000610054,EXAC_SAS_AF,CABP2
247217,11:67287528:G>A,NM_001318496.1:c.501C>T,NP_001305425.1:p.Phe167=,5/7,\N,Unknown significance,\N,synonymous_variant,10.69,0.0008,1KG_AFR_AF,CABP2
247218,11:67287528:GA>G,NM_001318496.1:c.500del,NP_001305425.1:p.Phe167SerfsTer57,5/7,\N,Unknown significance,\N,frameshift_variant,34,0.000297206,EXAC_AFR_AF,CABP2
247219,11:67287531:G>A,NM_001318496.1:c.498C>T,NP_001305425.1:p.Ala166=,5/7,\N,Unknown significance,\N,synonymous_variant,11.79,0.0000872448,EXAC_AMR_AF,CABP2
247220,11:67287533:C>T,NM_016366.2:c.478G>A,NP_057450.2:p.Ala160Thr,5/7,\N,Unknown significance,\N,missense_variant,26.3,0.000395491,EXAC_AFR_AF,CABP2
247221,11:67287538:C>T,NM_016366.2:c.473G>A,NP_057450.2:p.Arg158Gln,5/7,\N,Unknown significance,\N,missense_variant,29.3,0.00114155,EXAC_OTH_AF,CABP2
247222,11:67287539:G>A,NM_016366.2:c.472C>T,NP_057450.2:p.Arg158Trp,5/7,\N,Unknown significance,\N,missense_variant,34,0.0000607533,EXAC_SAS_AF,CABP2
247223,11:67287539:G>T,NM_001318496.1:c.490C>A,NP_001305425.1:p.Arg164=,5/7,\N,Unknown significance,\N,synonymous_variant,11.98,0.0000151791,EXAC_NFE_AF,CABP2
247224,11:67287545:C>T,NM_016366.2:c.466G>A,NP_057450.2:p.Glu156Lys,5/7,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,32,0.000454545,EVS_AA_AF,CABP2
247225,11:67287552:A>G,NM_001318496.1:c.477T>C,NP_001305425.1:p.Gly159=,5/7,\N,Unknown significance,\N,synonymous_variant,0.489,0.0000606943,EXAC_SAS_AF,CABP2
247226,11:67287555:G>A,NM_001318496.1:c.474C>T,NP_001305425.1:p.Ile158=,5/7,\N,Unknown significance,\N,synonymous_variant,13.07,0.000232829,EVS_EA_AF,CABP2
247227,11:67287558:C>T,NM_016366.2:c.453G>A,NP_057450.2:p.Met151Ile,5/7,\N,Unknown significance,\N,missense_variant,24,0.000116414,EVS_EA_AF,CABP2
247228,11:67287562:T>C,NM_016366.2:c.449A>G,NP_057450.2:p.Asp150Gly,5/7,\N,Unknown significance,\N,missense_variant,23.3,0.0000150912,EXAC_NFE_AF,CABP2
247229,11:67287564:T>C,NM_001318496.1:c.465A>G,NP_001305425.1:p.Ala155=,5/7,\N,Unknown significance,\N,synonymous_variant,0.994,0.000116414,EVS_EA_AF,CABP2
247230,11:67287567:C>G,NM_001318496.1:c.462G>C,NP_001305425.1:p.Thr154=,5/7,\N,Unknown significance,\N,synonymous_variant,7.257,0.0000970685,EXAC_AFR_AF,CABP2
247231,11:67287573:T>C,NM_001318496.1:c.456A>G,NP_001305425.1:p.Ala152=,5/7,\N,Unknown significance,\N,synonymous_variant,1.933,0.0000150766,EXAC_NFE_AF,CABP2
247232,11:67287577:A>G,NM_016366.2:c.434T>C,NP_057450.2:p.Leu145Pro,5/7,\N,Unknown significance,\N,missense_variant,28.3,0.0000607017,EXAC_SAS_AF,CABP2
247233,11:67287586:G>A,NM_016366.2:c.425C>T,NP_057450.2:p.Pro142Leu,5/7,\N,Unknown significance,\N,missense_variant,28.7,\N,\N,CABP2
247234,11:67287589:C>A,NM_016366.2:c.422G>T,NP_057450.2:p.Gly141Val,5/7,\N,Unknown significance,\N,missense_variant,29.1,0.0000150807,EXAC_NFE_AF,CABP2
247235,11:67287599:C>T,NM_016366.2:c.412G>A,NP_057450.2:p.Glu138Lys,5/7,\N,Unknown significance,\N,missense_variant,24,0.000116117,EXAC_EAS_AF,CABP2
247236,11:67287601:A>T,NM_016366.2:c.410T>A,NP_057450.2:p.Val137Glu,5/7,\N,Unknown significance,\N,missense_variant,24.3,0.0000608939,EXAC_SAS_AF,CABP2
247237,11:67287603:G>A,NM_001318496.1:c.426C>T,NP_001305425.1:p.Phe142=,5/7,\N,Unknown significance,\N,synonymous_variant,13.21,0.000060931,EXAC_SAS_AF,CABP2
247238,11:67287606:G>A,NM_001318496.1:c.423C>T,NP_001305425.1:p.Asp141=,5/7,\N,Unknown significance,\N,synonymous_variant,6.01,0.0008,1KG_AFR_AF,CABP2
247239,11:67287608:C>A,NM_016366.2:c.403G>T,NP_057450.2:p.Asp135Tyr,5/7,\N,Unknown significance,\N,missense_variant,27.8,0.0000302682,EXAC_NFE_AF,CABP2
247240,11:67287611:C>A,NM_001318496.1:c.418G>T,NP_001305425.1:p.Glu140Ter,5/7,\N,Unknown significance,\N,stop_gained,38,0.000116414,EVS_EA_AF,CABP2
247241,11:67287611:C>T,NM_016366.2:c.400G>A,NP_057450.2:p.Glu134Lys,5/7,\N,Unknown significance,\N,missense_variant,23.3,0.0000979048,EXAC_AFR_AF,CABP2
247242,11:67287617:C>A,NM_016366.2:c.394G>T,NP_057450.2:p.Asp132Tyr,5/7,\N,Unknown significance,\N,missense_variant,31,0.000122986,EXAC_SAS_AF,CABP2
247243,11:67287617:C>T,NM_016366.2:c.394G>A,NP_057450.2:p.Asp132Asn,5/7,\N,Unknown significance,\N,missense_variant,32,0.0000152346,EXAC_NFE_AF,CABP2
247244,11:67287627:G>A,NM_001318496.1:c.402C>T,NP_001305425.1:p.Gly134=,5/7,\N,Unknown significance,\N,synonymous_variant,12.38,0.000116414,EVS_EA_AF,CABP2
247245,11:67287633:TG>T,NM_001318496.1:c.398-3del,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,11.62,\N,\N,CABP2
247246,11:67287634:G>C,NM_001318496.1:c.398-3C>G,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,10.63,0.000125723,EXAC_SAS_AF,CABP2
247247,11:67287636:G>T,NM_001318496.1:c.398-5C>A,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,4.823,\N,\N,CABP2
247248,11:67287638:G>A,NM_001318496.1:c.398-7C>T,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,7.279,0.0000156177,EXAC_NFE_AF,CABP2
247249,11:67287643:G>A,NM_001318496.1:c.398-12C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.504,0.0000910581,EXAC_AMR_AF,CABP2
247250,11:67287646:C>T,NM_001318496.1:c.398-15G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.633,0.0000157923,EXAC_NFE_AF,CABP2
247251,11:67287647:A>G,NM_001318496.1:c.398-16T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.213,0.0000473291,EXAC_NFE_AF,CABP2
247252,11:67287649:T>C,NM_001318496.1:c.398-18A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,0.969,0.000116414,EVS_EA_AF,CABP2
247253,11:67287650:A>G,NM_001318496.1:c.398-19T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,4.642,0.0000158323,EXAC_NFE_AF,CABP2
247254,11:67287656:C>G,NM_001318496.1:c.398-25G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,7.136,0.0000159602,EXAC_NFE_AF,CABP2
247255,11:67287659:G>A,NM_001318496.1:c.398-28C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,6.757,0.0000160581,EXAC_NFE_AF,CABP2
247256,11:67287672:C>T,NM_001318496.1:c.398-41G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.233,\N,\N,CABP2
247257,11:67287677:C>G,NM_001318496.1:c.398-46G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,4.577,0.000135962,EXAC_SAS_AF,CABP2
247258,11:67287682:C>A,NM_001318496.1:c.398-51G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.912,0.000101729,EXAC_AMR_AF,CABP2
247259,11:67287692:C>T,NM_001318496.1:c.398-61G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.905,0.003,1KG_EAS_AF,CABP2
247260,11:67287710:C>T,NM_001318496.1:c.398-79G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,7.164,0.0008,1KG_AFR_AF,CABP2
247261,11:67287718:C>T,NM_001318496.1:c.398-87G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.037,0.001,1KG_SAS_AF,CABP2
247262,11:67287776:T>C,NM_001318496.1:c.398-145A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,2.413,\N,\N,CABP2
247263,11:67287777:G>A,NM_001318496.1:c.398-146C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.712,0.002,1KG_EAS_AF,CABP2
247264,11:67287790:C>T,NM_001318496.1:c.398-159G>A,\N,\N,4/6,Benign,\N,intron_variant,5.75,0.0061,1KG_AFR_AF,CABP2
247265,11:67287843:A>C,NM_001318496.1:c.398-212T>G,\N,\N,4/6,Benign,\N,intron_variant,1.689,0.966,1KG_AFR_AF,CABP2
247266,11:67287857:G>A,NM_001318496.1:c.398-226C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.915,\N,\N,CABP2
247267,11:67287866:C>T,NM_001318496.1:c.398-235G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.581,\N,\N,CABP2
247268,11:67287881:C>T,NM_001318496.1:c.398-250G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.164,\N,\N,CABP2
247269,11:67287883:C>T,NM_001318496.1:c.398-252G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,4.402,\N,\N,CABP2
247270,11:67287884:T>A,NM_001318496.1:c.398-253A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,7.562,\N,\N,CABP2
247271,11:67287898:G>A,NM_001318496.1:c.398-267C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.281,\N,\N,CABP2
247272,11:67287899:C>T,NM_001318496.1:c.398-268G>A,\N,\N,4/6,Benign,\N,intron_variant,1.22,0.0053,1KG_AFR_AF,CABP2
247273,11:67287956:C>G,NM_001318496.1:c.398-325G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.529,0.001,1KG_SAS_AF,CABP2
247274,11:67287957:C>A,NM_001318496.1:c.398-326G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.42,\N,\N,CABP2
247275,11:67287957:C>T,NM_001318496.1:c.398-326G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.393,\N,\N,CABP2
247276,11:67287962:C>T,NM_001318496.1:c.398-331G>A,\N,\N,4/6,Benign,\N,intron_variant,1.309,0.036,1KG_AMR_AF,CABP2
247277,11:67288023:G>A,NM_001318496.1:c.398-392C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.511,0.001,1KG_EAS_AF,CABP2
247278,11:67288041:A>G,NM_001318496.1:c.398-410T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.443,\N,\N,CABP2
247279,11:67288065:G>A,NM_001318496.1:c.397+431C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.22,\N,\N,CABP2
247280,11:67288078:G>A,NM_001318496.1:c.397+418C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.408,\N,\N,CABP2
247281,11:67288091:T>C,NM_001318496.1:c.397+405A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.197,\N,\N,CABP2
247282,11:67288093:T>A,NM_001318496.1:c.397+403A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,6.704,\N,\N,CABP2
247283,11:67288124:TAAACAAA>T,NM_001318496.1:c.397+365_397+371del,\N,\N,4/6,Unknown significance,\N,intron_variant,4.917,\N,\N,CABP2
247284,11:67288147:A>T,NM_001318496.1:c.397+349T>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.625,0.0014,1KG_AMR_AF,CABP2
247285,11:67288173:C>T,NM_001318496.1:c.397+323G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.978,\N,\N,CABP2
247286,11:67288186:T>C,NM_001318496.1:c.397+310A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,9.944,\N,\N,CABP2
247287,11:67288209:G>A,NM_001318496.1:c.397+287C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.135,0.001,1KG_EAS_AF,CABP2
247288,11:67288211:T>A,NM_001318496.1:c.397+285A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.997,\N,\N,CABP2
247289,11:67288227:G>T,NM_001318496.1:c.397+269C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,7.661,0.0008,1KG_AFR_AF,CABP2
247290,11:67288263:A>C,NM_001318496.1:c.397+233T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,0.27,0.001,1KG_SAS_AF,CABP2
247291,11:67288312:C>T,NM_001318496.1:c.397+184G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.864,0.001,1KG_EUR_AF,CABP2
247292,11:67288320:AC>A,NM_001318496.1:c.397+175del,\N,\N,4/6,Unknown significance,\N,intron_variant,2.067,\N,\N,CABP2
247293,11:67288332:C>T,NM_001318496.1:c.397+164G>A,\N,\N,4/6,Benign,\N,intron_variant,2.027,0.005,1KG_EAS_AF,CABP2
247294,11:67288345:C>T,NM_001318496.1:c.397+151G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.101,\N,\N,CABP2
247295,11:67288379:G>A,NM_001318496.1:c.397+117C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.435,\N,\N,CABP2
247296,11:67288386:G>A,NM_001318496.1:c.397+110C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.861,\N,\N,CABP2
247297,11:67288399:G>A,NM_001318496.1:c.397+97C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,6.372,\N,\N,CABP2
247298,11:67288426:C>G,NM_001318496.1:c.397+70G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.275,0.002,1KG_EAS_AF,CABP2
247299,11:67288447:G>A,NM_001318496.1:c.397+49C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,4.662,0.0000690989,EXAC_SAS_AF,CABP2
247300,11:67288448:C>T,NM_001318496.1:c.397+48G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.608,0.0000701557,EXAC_SAS_AF,CABP2
247301,11:67288449:G>A,NM_001318496.1:c.397+47C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.949,0.0000690703,EXAC_SAS_AF,CABP2
247302,11:67288453:G>C,NM_001318496.1:c.397+43C>G,\N,\N,4/6,Unknown significance,\N,intron_variant,2.361,0.0000151318,EXAC_NFE_AF,CABP2
247303,11:67288472:T>A,NM_001318496.1:c.397+24A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,8.342,0.0000864006,EXAC_AMR_AF,CABP2
247304,11:67288474:G>C,NM_001318496.1:c.397+22C>G,\N,\N,4/6,Unknown significance,\N,intron_variant,2.632,0.002,1KG_SAS_AF,CABP2
247305,11:67288484:C>T,NM_001318496.1:c.397+12G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.416,0.0000863707,EXAC_AMR_AF,CABP2
247306,11:67288485:G>A,NM_001318496.1:c.397+11C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,7.324,0.0015,1KG_AFR_AF,CABP2
247307,11:67288488:G>A,NM_001318496.1:c.397+8C>T,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,9.992,0.0000631872,EXAC_SAS_AF,CABP2
247308,11:67288492:A>G,NM_001318496.1:c.397+4T>C,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,3.876,0.0000623053,EXAC_SAS_AF,CABP2
247309,11:67288496:T>A,NM_016366.2:c.379A>T,NP_057450.2:p.Ser127Cys,4/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.5,0.0000150304,EXAC_NFE_AF,CABP2
247310,11:67288503:T>C,NM_001318496.1:c.390A>G,NP_001305425.1:p.Gln130=,4/7,\N,Unknown significance,\N,synonymous_variant,0.017,0.0000150209,EXAC_NFE_AF,CABP2
247311,11:67288505:G>A,NM_001318496.1:c.388C>T,NP_001305425.1:p.Gln130Ter,4/7,\N,Unknown significance,\N,stop_gained,38,0.0000150195,EXAC_NFE_AF,CABP2
247312,11:67288511:T>C,NM_016366.2:c.364A>G,NP_057450.2:p.Ile122Val,4/7,\N,Unknown significance,\N,missense_variant,23,\N,\N,CABP2
247313,11:67288514:C>T,NM_016366.2:c.361G>A,NP_057450.2:p.Glu121Lys,4/7,\N,Unknown significance,\N,missense_variant,34,0.0000150123,EXAC_NFE_AF,CABP2
247314,11:67288518:G>A,NM_001318496.1:c.375C>T,NP_001305425.1:p.Leu125=,4/7,\N,Unknown significance,\N,synonymous_variant,10.8,0.000227273,EVS_AA_AF,CABP2
247315,11:67288519:A>G,NM_016366.2:c.356T>C,NP_057450.2:p.Leu119Pro,4/7,\N,Unknown significance,\N,missense_variant,28.9,\N,\N,CABP2
247316,11:67288520:G>A,NM_016366.2:c.355C>T,NP_057450.2:p.Leu119Phe,4/7,\N,Unknown significance,\N,missense_variant,27.6,0.000116414,EVS_EA_AF,CABP2
247317,11:67288529:C>T,NM_016366.2:c.346G>A,NP_057450.2:p.Glu116Lys,4/7,\N,Unknown significance,\N,missense_variant,34,0.000454545,EVS_AA_AF,CABP2
247318,11:67288530:G>A,NM_001318496.1:c.363C>T,NP_001305425.1:p.Thr121=,4/7,\N,Unknown significance,\N,synonymous_variant,12.77,0.0000605694,EXAC_SAS_AF,CABP2
247319,11:67288530:G>T,NM_001318496.1:c.363C>A,NP_001305425.1:p.Thr121=,4/7,\N,Benign,\N,synonymous_variant,11.27,0.0061,1KG_SAS_AF,CABP2
247320,11:67288535:G>A,NM_016366.2:c.340C>T,NP_057450.2:p.Pro114Ser,4/7,\N,Unknown significance,\N,missense_variant,27.8,0.0000149979,EXAC_NFE_AF,CABP2
247321,11:67288536:C>G,NM_016366.2:c.339G>C,NP_057450.2:p.Met113Ile,4/7,\N,Unknown significance,\N,missense_variant,25.3,0.000116414,EVS_EA_AF,CABP2
247322,11:67288536:C>T,NM_016366.2:c.339G>A,NP_057450.2:p.Met113Ile,4/7,\N,Unknown significance,\N,missense_variant,26.1,0.00011558,EXAC_EAS_AF,CABP2
247323,11:67288539:G>A,NM_001318496.1:c.354C>T,NP_001305425.1:p.Tyr118=,4/7,\N,Unknown significance,\N,synonymous_variant,6.958,0.000693481,EXAC_EAS_AF,CABP2
247324,11:67288547:G>A,NM_001318496.1:c.346C>T,NP_001305425.1:p.Leu116=,4/7,\N,Unknown significance,\N,synonymous_variant,9.574,\N,\N,CABP2
247325,11:67288548:G>A,NM_001318496.1:c.345C>T,NP_001305425.1:p.Thr115=,4/7,\N,Unknown significance,\N,synonymous_variant,9.141,0.000693481,EXAC_EAS_AF,CABP2
247326,11:67288552:C>T,NM_016366.2:c.323G>A,NP_057450.2:p.Arg108Gln,4/7,\N,Unknown significance,\N,missense_variant,35,0.0000299832,EXAC_NFE_AF,CABP2
247327,11:67288553:G>A,NM_016366.2:c.322C>T,NP_057450.2:p.Arg108Trp,4/7,\N,Unknown significance,\N,missense_variant,33,0.00011558,EXAC_EAS_AF,CABP2
247328,11:67288555:A>G,NM_016366.2:c.320T>C,NP_057450.2:p.Met107Thr,4/7,\N,Unknown significance,\N,missense_variant,26.1,0.0000961538,EXAC_AFR_AF,CABP2
247329,11:67288556:T>G,NM_016366.2:c.319A>C,NP_057450.2:p.Met107Leu,4/7,\N,Unknown significance,\N,missense_variant,27.3,0.0000149912,EXAC_NFE_AF,CABP2
247330,11:67288571:C>T,NM_016366.2:c.304G>A,NP_057450.2:p.Glu102Lys,4/7,\N,Unknown significance,\N,missense_variant,31,0.000060562,EXAC_SAS_AF,CABP2
247331,11:67288575:G>C,NM_016366.2:c.300C>G,NP_057450.2:p.Cys100Trp,4/7,\N,Unknown significance,\N,missense_variant,25.1,\N,\N,CABP2
247332,11:67288576:C>A,NM_016366.2:c.299G>T,NP_057450.2:p.Cys100Phe,4/7,\N,Likely benign,\N,missense_variant,20.8,0.0014,1KG_AMR_AF,CABP2
247333,11:67288576:C>T,NM_016366.2:c.299G>A,NP_057450.2:p.Cys100Tyr,4/7,\N,Likely benign,\N,missense_variant,5.906,0.000121124,EXAC_SAS_AF,CABP2
247334,11:67288589:C>T,NM_016366.2:c.286G>A,NP_057450.2:p.Gly96Ser,4/7,\N,Unknown significance,\N,missense_variant,28.7,0.000115607,EXAC_EAS_AF,CABP2
247335,11:67288590:G>A,NM_001318496.1:c.303C>T,NP_001305425.1:p.Asp101=,4/7,\N,Unknown significance,\N,synonymous_variant,0.567,0.002,1KG_SAS_AF,CABP2
247336,11:67288593:C>T,NM_001318496.1:c.300G>A,NP_001305425.1:p.Arg100=,4/7,\N,Unknown significance,\N,synonymous_variant,8.653,0.001,1KG_EAS_AF,CABP2
247337,11:67288594:C>T,NM_016366.2:c.281G>A,NP_057450.2:p.Arg94Gln,4/7,\N,Benign,\N,missense_variant,17.94,0.693324,EXAC_EAS_AF,CABP2
247338,11:67288595:G>C,NM_016366.2:c.280C>G,NP_057450.2:p.Arg94Gly,4/7,\N,Benign,\N,missense_variant,20.9,0.031,1KG_AFR_AF,CABP2
247339,11:67288600:C>T,NM_016366.2:c.275G>A,NP_057450.2:p.Arg92Gln,4/7,\N,Unknown significance,\N,missense_variant,24,0.001,1KG_SAS_AF,CABP2
247340,11:67288601:G>A,NM_001318496.1:c.292C>T,NP_001305425.1:p.Arg98Ter,4/7,\N,Unknown significance,\N,stop_gained,34,0.0000607165,EXAC_SAS_AF,CABP2
247341,11:67288601:G>T,NM_001318496.1:c.292C>A,NP_001305425.1:p.Arg98=,4/7,\N,Unknown significance,\N,synonymous_variant,4.842,0.000303582,EXAC_SAS_AF,CABP2
247342,11:67288611:C>T,NM_001318496.1:c.282G>A,NP_001305425.1:p.Gln94=,4/7,\N,Unknown significance,\N,synonymous_variant,12.65,0.000231696,EXAC_EAS_AF,CABP2
247343,11:67288617:G>A,NM_001318496.1:c.276C>T,NP_001305425.1:p.Ala92=,4/7,\N,Unknown significance,\N,synonymous_variant,11.9,0.0000870171,EXAC_AMR_AF,CABP2
247344,11:67288619:C>T,NM_016366.2:c.256G>A,NP_057450.2:p.Ala86Thr,4/7,\N,Unknown significance,\N,missense_variant,35,0.000116414,EVS_EA_AF,CABP2
247345,11:67288620:G>A,NM_001318496.1:c.273C>T,NP_001305425.1:p.Val91=,4/7,\N,Unknown significance,\N,synonymous_variant,13.29,0.0000151768,EXAC_NFE_AF,CABP2
247346,11:67288620:G>C,NM_001318496.1:c.273C>G,NP_001305425.1:p.Val91=,4/7,\N,Unknown significance,\N,synonymous_variant,11.48,0.000116252,EXAC_EAS_AF,CABP2
247347,11:67288622:C>A,NM_016366.2:c.253G>T,NP_057450.2:p.Val85Phe,4/7,\N,Likely benign,\N,missense_variant,26.1,0.000308833,EXAC_SAS_AF,CABP2
247348,11:67288629:C>G,NM_016366.2:c.246G>C,NP_057450.2:p.Glu82Asp,4/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.4,0.000227273,EVS_AA_AF,CABP2
247349,11:67288640:A>G,NM_001318496.1:c.263-10T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,19.73,\N,\N,CABP2
247350,11:67288641:G>T,NM_001318496.1:c.263-11C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,18.14,0.0000156382,EXAC_NFE_AF,CABP2
247351,11:67288644:T>TG,NM_001318496.1:c.263-15dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247352,11:67288648:G>C,NM_001318496.1:c.263-18C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,9.782,0.0000644828,EXAC_SAS_AF,CABP2
247353,11:67288652:G>C,NM_001318496.1:c.263-22C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,9.128,0.0000159241,EXAC_NFE_AF,CABP2
247354,11:67288657:T>G,NM_001318496.1:c.263-27A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,7.361,0.000116414,EVS_EA_AF,CABP2
247355,11:67288658:C>T,NM_001318496.1:c.263-28G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,7.879,0.0000162153,EXAC_NFE_AF,CABP2
247356,11:67288662:C>A,NM_001318496.1:c.263-32G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.008,0.0000162343,EXAC_NFE_AF,CABP2
247357,11:67288670:C>T,NM_001318496.1:c.263-40G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,5.521,\N,\N,CABP2
247358,11:67288671:C>G,NM_001318496.1:c.263-41G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,2.513,0.001,1KG_EUR_AF,CABP2
247359,11:67288689:C>T,NM_001318496.1:c.263-59G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.325,0.0008,1KG_AFR_AF,CABP2
247360,11:67288695:C>T,NM_001318496.1:c.263-65G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,5.471,0.0008,1KG_AFR_AF,CABP2
247361,11:67288696:C>T,NM_001318496.1:c.263-66G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,4.014,0.0015,1KG_AFR_AF,CABP2
247362,11:67288719:C>T,NM_001318496.1:c.263-89G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.509,\N,\N,CABP2
247363,11:67288737:A>G,NM_001318496.1:c.263-107T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,1.286,0.0015,1KG_AFR_AF,CABP2
247364,11:67288738:T>G,NM_001318496.1:c.263-108A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,5.514,0.002,1KG_SAS_AF,CABP2
247365,11:67288756:G>A,NM_001318496.1:c.263-126C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.757,0.001,1KG_EAS_AF,CABP2
247366,11:67288760:T>TG,NM_001318496.1:c.263-131_263-130insC,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247367,11:67288766:C>T,NM_001318496.1:c.263-136G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.096,0.0015,1KG_AFR_AF,CABP2
247368,11:67288767:G>A,NM_001318496.1:c.263-137C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,0.309,0.0014,1KG_AMR_AF,CABP2
247369,11:67288785:G>C,NM_001318496.1:c.263-155C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.483,\N,\N,CABP2
247370,11:67288809:G>A,NM_001318496.1:c.263-179C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.748,0.001,1KG_SAS_AF,CABP2
247371,11:67288815:A>G,NM_001318496.1:c.263-185T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,6.2,\N,\N,CABP2
247372,11:67288862:T>C,NM_001318496.1:c.263-232A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,4.908,\N,\N,CABP2
247373,11:67288867:C>T,NM_001318496.1:c.263-237G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.401,0.001,1KG_EUR_AF,CABP2
247374,11:67288912:CT>C,NM_001318496.1:c.263-283del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247375,11:67288933:CCCCTTCCTCTTT>C,NM_001318496.1:c.263-315_263-304del,\N,\N,3/6,Benign,\N,intron_variant,0.865,0.0076,1KG_AFR_AF,CABP2
247376,11:67288989:G>T,NM_001318496.1:c.263-359C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,0.517,\N,\N,CABP2
247377,11:67288994:C>T,NM_001318496.1:c.263-364G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.679,0.001,1KG_EUR_AF,CABP2
247378,11:67288997:CG>C,NM_001318496.1:c.263-368del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247379,11:67289040:ACT>A,NM_001318496.1:c.262+381_262+382del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,0.003,1KG_EAS_AF,CABP2
247380,11:67289060:C>T,NM_001318496.1:c.262+363G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.886,0.0008,1KG_AFR_AF,CABP2
247381,11:67289065:G>C,NM_001318496.1:c.262+358C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.065,0.001,1KG_EUR_AF,CABP2
247382,11:67289082:G>C,NM_001318496.1:c.262+341C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.277,0.0008,1KG_AFR_AF,CABP2
247383,11:67289099:G>A,NM_001318496.1:c.262+324C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,1.973,0.001,1KG_EUR_AF,CABP2
247384,11:67289160:C>T,NM_001318496.1:c.262+263G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,8.536,\N,\N,CABP2
247385,11:67289165:T>G,NM_001318496.1:c.262+258A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,7.803,\N,\N,CABP2
247386,11:67289185:C>T,NM_001318496.1:c.262+238G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,4.368,0.0008,1KG_AFR_AF,CABP2
247387,11:67289188:G>A,NM_001318496.1:c.262+235C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,0.889,\N,\N,CABP2
247388,11:67289251:T>A,NM_001318496.1:c.262+172A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,15.13,0.0008,1KG_AFR_AF,CABP2
247389,11:67289254:T>A,NM_001318496.1:c.262+169A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,16.59,\N,\N,CABP2
247390,11:67289259:C>T,NM_001318496.1:c.262+164G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,15.38,\N,\N,CABP2
247391,11:67289275:TA>T,NM_001318496.1:c.262+147del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247392,11:67289284:C>A,NM_001318496.1:c.262+139G>T,\N,\N,3/6,Benign,\N,intron_variant,0.684,0.0053,1KG_AFR_AF,CABP2
247393,11:67289317:GA>G,NM_001318496.1:c.262+105del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247394,11:67289337:C>T,NM_001318496.1:c.262+86G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.361,\N,\N,CABP2
247395,11:67289344:C>A,NM_001318496.1:c.262+79G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,6.166,0.001,1KG_EUR_AF,CABP2
247396,11:67289382:A>C,NM_001318496.1:c.262+41T>G,\N,\N,3/6,Unknown significance,\N,intron_variant,1.84,0.002,1KG_SAS_AF,CABP2
247397,11:67289384:C>T,NM_001318496.1:c.262+39G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.372,0.0000843739,EXAC_SAS_AF,CABP2
247398,11:67289386:C>T,NM_001318496.1:c.262+37G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.409,\N,\N,CABP2
247399,11:67289387:C>A,NM_001318496.1:c.262+36G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.734,0.000128205,EXAC_AFR_AF,CABP2
247400,11:67289405:C>T,NM_001318496.1:c.262+18G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,16.38,0.0000173485,EXAC_NFE_AF,CABP2
247401,11:67289406:C>T,NM_001318496.1:c.262+17G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,14.81,0.0014,1KG_AMR_AF,CABP2
247402,11:67289415:C>T,NM_001318496.1:c.262+8G>A,\N,\N,3/6,Unknown significance,\N,splice_region_variant&intron_variant,12.41,0.000109866,EXAC_AFR_AF,CABP2
247403,11:67289423:C>T,NM_016366.2:c.244G>A,NP_057450.2:p.Glu82Lys,3/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.00010898,EXAC_AFR_AF,CABP2
247404,11:67289426:C>T,NM_016366.2:c.241G>A,NP_057450.2:p.Glu81Lys,3/7,\N,Unknown significance,\N,missense_variant,26.2,0.0000164728,EXAC_NFE_AF,CABP2
247405,11:67289429:T>C,NM_016366.2:c.238A>G,NP_057450.2:p.Ile80Val,3/7,\N,Unknown significance,\N,missense_variant,12.49,0.0000952381,EXAC_AMR_AF,CABP2
247406,11:67289436:G>A,NM_001318496.1:c.249C>T,NP_001305425.1:p.Pro83=,3/7,\N,Unknown significance,\N,synonymous_variant,13.82,0.0000703532,EXAC_SAS_AF,CABP2
247407,11:67289436:G>C,NM_001318496.1:c.249C>G,NP_001305425.1:p.Pro83=,3/7,\N,Unknown significance,\N,synonymous_variant,11.15,0.0000703532,EXAC_SAS_AF,CABP2
247408,11:67289440:C>T,NM_016366.2:c.227G>A,NP_057450.2:p.Arg76Gln,3/7,\N,Unknown significance,\N,missense_variant,29.1,0.000217581,EXAC_AFR_AF,CABP2
247409,11:67289441:G>A,NM_016366.2:c.226C>T,NP_057450.2:p.Arg76Trp,3/7,\N,Unknown significance,\N,missense_variant,33,0.000108838,EXAC_AFR_AF,CABP2
247410,11:67289441:G>T,NM_001318496.1:c.244C>A,NP_001305425.1:p.Arg82=,3/7,\N,Unknown significance,\N,synonymous_variant,11.86,0.000016629,EXAC_NFE_AF,CABP2
247411,11:67289443:A>G,NM_016366.2:c.224T>C,NP_057450.2:p.Leu75Pro,3/7,\N,Unknown significance,\N,missense_variant,26.5,0.000232829,EVS_EA_AF,CABP2
247412,11:67289447:C>T,NM_016366.2:c.220G>A,NP_057450.2:p.Glu74Lys,3/7,\N,Unknown significance,\N,missense_variant,23.7,0.000124844,EXAC_EAS_AF,CABP2
247413,11:67289449:C>G,NM_016366.2:c.218G>C,NP_057450.2:p.Arg73Pro,3/7,\N,Unknown significance,\N,missense_variant,33,0.000071623,EXAC_SAS_AF,CABP2
247414,11:67289449:C>T,NM_016366.2:c.218G>A,NP_057450.2:p.Arg73Gln,3/7,\N,Unknown significance,\N,missense_variant,34,0.000109385,EXAC_AFR_AF,CABP2
247415,11:67289450:G>A,NM_016366.2:c.217C>T,NP_057450.2:p.Arg73Trp,3/7,\N,Unknown significance,\N,missense_variant,32,0.0000675653,EXAC_NFE_AF,CABP2
247416,11:67289460:G>C,NM_001318496.1:c.232-7C>G,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,1.224,0.0000172903,EXAC_NFE_AF,CABP2
247417,11:67289460:G>T,NM_001318496.1:c.232-7C>A,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,1.932,0.0000732064,EXAC_SAS_AF,CABP2
247418,11:67289461:G>A,NM_001318496.1:c.232-8C>T,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,2.435,0.0014,1KG_AMR_AF,CABP2
247419,11:67289468:G>A,NM_001318496.1:c.232-15C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,1.255,0.000148192,EXAC_SAS_AF,CABP2
247420,11:67289469:G>C,NM_001318496.1:c.232-16C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.713,0.000113327,EXAC_AFR_AF,CABP2
247421,11:67289470:G>T,NM_001318496.1:c.232-17C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.673,0.000074438,EXAC_SAS_AF,CABP2
247422,11:67289475:G>A,NM_001318496.1:c.232-22C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,9.473,0.000116414,EVS_EA_AF,CABP2
247423,11:67289476:G>A,NM_001318496.1:c.232-23C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,9.207,0.000114653,EXAC_AFR_AF,CABP2
247424,11:67289481:C>T,NM_001318496.1:c.232-28G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,6.911,0.000018059,EXAC_NFE_AF,CABP2
247425,11:67289482:C>T,NM_001318496.1:c.232-29G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,6.835,0.000163328,EXAC_NFE_AF,CABP2
247426,11:67289483:C>T,NM_001318496.1:c.232-30G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,6.115,\N,\N,CABP2
247427,11:67289485:G>A,NM_001318496.1:c.232-32C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,5.821,0.000227273,EVS_AA_AF,CABP2
247428,11:67289489:C>T,NM_001318496.1:c.232-36G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,5.729,0.0000185563,EXAC_NFE_AF,CABP2
247429,11:67289494:G>C,NM_001318496.1:c.232-41C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.46,0.0000187899,EXAC_NFE_AF,CABP2
247430,11:67289500:T>C,NM_001318496.1:c.232-47A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,3.788,\N,\N,CABP2
247431,11:67289501:G>T,NM_001318496.1:c.232-48C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,2.276,0.0000385297,EXAC_NFE_AF,CABP2
247432,11:67289522:C>T,NM_001318496.1:c.232-69G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.288,0.00144509,EVS_AA_AF,CABP2
247433,11:67289541:C>T,NM_001318496.1:c.232-88G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,5.248,0.0014,1KG_AMR_AF,CABP2
247434,11:67289545:A>G,NM_001318496.1:c.232-92T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,2.47,0.0008,1KG_AFR_AF,CABP2
247435,11:67289554:C>T,NM_001318496.1:c.232-101G>A,\N,\N,2/6,Benign,\N,intron_variant,0.581,0.0098,1KG_AFR_AF,CABP2
247436,11:67289555:G>A,NM_001318496.1:c.232-102C>T,\N,\N,2/6,Benign,\N,intron_variant,4.246,0.0149,1KG_EUR_AF,CABP2
247437,11:67289561:G>T,NM_001318496.1:c.232-108C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,1.107,0.001,1KG_EAS_AF,CABP2
247438,11:67289562:C>T,NM_001318496.1:c.232-109G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.352,0.0008,1KG_AFR_AF,CABP2
247439,11:67289566:G>GC,NM_001318496.1:c.232-114dup,\N,\N,2/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247440,11:67289583:T>A,NM_001318496.1:c.232-130A>T,\N,\N,2/6,Unknown significance,\N,intron_variant,6.156,0.0015,1KG_AFR_AF,CABP2
247441,11:67289588:G>A,NM_001318496.1:c.232-135C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,2.49,0.0045,1KG_AFR_AF,CABP2
247442,11:67289594:G>C,NM_001318496.1:c.232-141C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,1.91,\N,\N,CABP2
247443,11:67289674:C>T,NM_001318496.1:c.232-221G>A,\N,\N,2/6,Benign,\N,intron_variant,5.023,0.0061,1KG_AFR_AF,CABP2
247444,11:67289675:G>A,NM_001318496.1:c.232-222C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.489,0.0041,1KG_SAS_AF,CABP2
247445,11:67289719:T>G,NM_001318496.1:c.232-266A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,5.374,0.001,1KG_EUR_AF,CABP2
247446,11:67289777:A>C,NM_001318496.1:c.231+236T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.848,0.001,1KG_EUR_AF,CABP2
247447,11:67289778:A>G,NM_001318496.1:c.231+235T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,0.724,0.001,1KG_SAS_AF,CABP2
247448,11:67289789:G>T,NM_001318496.1:c.231+224C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,5.699,0.002,1KG_SAS_AF,CABP2
247449,11:67289800:C>T,NM_001318496.1:c.231+213G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,2.535,0.0015,1KG_AFR_AF,CABP2
247450,11:67289839:C>G,NM_001318496.1:c.231+174G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,0.721,0.003,1KG_EUR_AF,CABP2
247451,11:67289842:C>G,NM_001318496.1:c.231+171G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,3.42,0.001,1KG_EAS_AF,CABP2
247452,11:67289880:A>T,NM_001318496.1:c.231+133T>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.801,0.0008,1KG_AFR_AF,CABP2
247453,11:67289889:C>T,NM_001318496.1:c.231+124G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,6.888,0.001,1KG_EUR_AF,CABP2
247454,11:67289914:G>A,NM_001318496.1:c.231+99C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,6.048,0.0015,1KG_AFR_AF,CABP2
247455,11:67289931:G>A,NM_001318496.1:c.231+82C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,3.668,\N,\N,CABP2
247456,11:67289942:C>T,NM_001318496.1:c.231+71G>A,\N,\N,2/6,Benign,\N,intron_variant,0.536,0.0053,1KG_AFR_AF,CABP2
247457,11:67289970:G>C,NM_001318496.1:c.231+43C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.942,0.0008,1KG_AFR_AF,CABP2
247458,11:67289984:C>T,NM_001318496.1:c.231+29G>A,\N,\N,2/6,Benign,\N,intron_variant,4.114,0.00854701,EXAC_EAS_AF,CABP2
247459,11:67289996:C>T,NM_001318496.1:c.231+17G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,0.564,0.000112511,EXAC_NFE_AF,CABP2
247460,11:67289997:G>A,NM_001318496.1:c.231+16C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.545,0.000458926,EVS_AA_AF,CABP2
247461,11:67290001:G>A,NM_001318496.1:c.231+12C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,2.822,\N,\N,CABP2
247462,11:67290008:C>T,NM_001318496.1:c.231+5G>A,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,15.97,0.001,1KG_EUR_AF,CABP2
247463,11:67290009:G>A,NM_001318496.1:c.231+4C>T,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,14.26,\N,\N,CABP2
247464,11:67290014:TAC>T,NM_001318496.1:c.228_229del,NP_001305425.1:p.Tyr77Ter,2/7,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,26.5,\N,\N,CABP2
247465,11:67290017:G>A,NM_001318496.1:c.227C>T,NP_001305425.1:p.Ser76Leu,2/7,\N,Unknown significance,\N,missense_variant,16.4,0.000127421,EXAC_SAS_AF,CABP2
247466,11:67290024:G>C,NM_016366.2:c.206C>G,NP_057450.2:p.Thr69Ser,2/7,\N,Unknown significance,\N,missense_variant,14.18,\N,\N,CABP2
247467,11:67290028:C>T,NM_016366.2:c.202G>A,NP_057450.2:p.Ala68Thr,2/7,\N,Likely benign,\N,missense_variant,23.2,0.000253872,EXAC_SAS_AF,CABP2
247468,11:67290029:G>A,NM_001318496.1:c.215C>T,NP_001305425.1:p.Pro72Leu,2/7,\N,Unknown significance,\N,missense_variant,13.35,0.00176484,EXAC_NFE_AF,CABP2
247469,11:67290029:G>T,NM_001318496.1:c.215C>A,NP_001305425.1:p.Pro72Gln,2/7,\N,Benign,\N,missense_variant,12.47,0.0053,1KG_AFR_AF,CABP2
247470,11:67290033:A>G,NM_016366.2:c.197T>C,NP_057450.2:p.Ile66Thr,2/7,\N,Unknown significance,\N,missense_variant,21.4,0.00038373,EXAC_AFR_AF,CABP2
247471,11:67290042:C>T,NM_016366.2:c.188G>A,NP_057450.2:p.Arg63Gln,2/7,\N,Benign,\N,missense_variant,25,0.0101952,EXAC_NFE_AF,CABP2
247472,11:67290043:G>A,NM_016366.2:c.187C>T,NP_057450.2:p.Arg63Trp,2/7,\N,Unknown significance,\N,missense_variant,33,0.000253165,EXAC_SAS_AF,CABP2
247473,11:67290043:G>C,NM_016366.2:c.187C>G,NP_057450.2:p.Arg63Gly,2/7,\N,Unknown significance,\N,missense_variant,24.3,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,CABP2
247474,11:67290059:A>AGGG,NM_001318496.1:c.184_185insCCC,NP_001305425.1:p.Gly61_Leu62insPro,2/7,\N,Unknown significance,\N,inframe_insertion,16.41,\N,\N,CABP2
247475,11:67290059:A>AGGGG,NM_001318496.1:c.184_185insCCCC,NP_001305425.1:p.Leu62ProfsTer18,2/7,\N,Unknown significance,\N,frameshift_variant,32,\N,\N,CABP2
247476,11:67290062:C>G,NM_001318496.1:c.182G>C,NP_001305425.1:p.Gly61Ala,2/7,\N,Unknown significance,\N,missense_variant,11.72,\N,\N,CABP2
247477,11:67290072:C>T,NM_016366.2:c.158G>A,NP_057450.2:p.Ser53Asn,2/7,\N,Likely benign,\N,missense_variant,7.879,\N,\N,CABP2
247478,11:67290082:C>T,NM_016366.2:c.148G>A,NP_057450.2:p.Val50Met,2/7,\N,Likely benign,\N,missense_variant,22.7,0.000147189,EXAC_NFE_AF,CABP2
247479,11:67290084:G>A,NM_016366.2:c.146C>T,NP_057450.2:p.Ser49Leu,2/7,\N,Unknown significance,\N,missense_variant,22.5,0.001,1KG_EAS_AF|1KG_SAS_AF,CABP2
247480,11:67290087:T>G,NM_016366.2:c.143A>C,NP_057450.2:p.Tyr48Ser,2/7,\N,Unknown significance,\N,missense_variant,22.5,0.00045208,EXAC_NFE_AF,CABP2
247481,11:67290097:C>T,NM_016366.2:c.133G>A,NP_057450.2:p.Val45Ile,2/7,\N,Likely benign,\N,missense_variant,0.013,0.000169205,EXAC_NFE_AF,CABP2
247482,11:67290103:G>A,NM_016366.2:c.127C>T,NP_057450.2:p.Pro43Ser,2/7,\N,Likely benign,\N,missense_variant,0.05,0.000453035,EXAC_SAS_AF,CABP2
247483,11:67290104:C>T,NM_001318496.1:c.140G>A,NP_001305425.1:p.Arg47His,2/7,\N,Unknown significance,\N,missense_variant,11.27,0.001,1KG_SAS_AF,CABP2
247484,11:67290106:C>T,NM_016366.2:c.124G>A,NP_057450.2:p.Ala42Thr,2/7,\N,Benign,\N,missense_variant,0.068,0.0188,1KG_EAS_AF,CABP2
247485,11:67290119:C>T,NM_001318496.1:c.125G>A,NP_001305425.1:p.Ser42Asn,2/7,\N,Unknown significance,\N,missense_variant,5.193,0.000174216,EXAC_SAS_AF,CABP2
247486,11:67290137:G>A,NM_001318496.1:c.107C>T,NP_001305425.1:p.Pro36Leu,2/7,\N,Unknown significance,\N,missense_variant,6.979,0.002,1KG_SAS_AF,CABP2
247487,11:67290146:G>C,NM_016366.2:c.84C>G,NP_057450.2:p.Cys28Trp,2/7,\N,Unknown significance,\N,missense_variant,22.7,0.00024558,EXAC_SAS_AF,CABP2
247488,11:67290153:C>T,NM_016366.2:c.77G>A,NP_057450.2:p.Gly26Asp,2/7,\N,Likely benign,\N,missense_variant,23,\N,\N,CABP2
247489,11:67290169:C>G,NM_016366.2:c.61G>C,NP_057450.2:p.Gly21Arg,2/7,\N,Likely benign,\N,missense_variant,4.262,0.000619579,EXAC_NFE_AF,CABP2
247490,11:67290184:G>A,NM_016366.2:c.46C>T,NP_057450.2:p.Pro16Ser,2/7,\N,Likely benign,\N,missense_variant,0.036,0.0008,1KG_AFR_AF,CABP2
247491,11:67290184:G>T,NM_016366.2:c.46C>A,NP_057450.2:p.Pro16Thr,2/7,\N,Likely benign,\N,missense_variant,0.036,0.000636132,EXAC_NFE_AF,CABP2
247492,11:67290200:C>T,NM_001318496.1:c.57-13G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.684,0.00218341,EXAC_SAS_AF,CABP2
247493,11:67290204:C>T,NM_001318496.1:c.57-17G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.734,0.000163613,EVS_EA_AF,CABP2
247494,11:67290205:G>A,NM_001318496.1:c.57-18C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.15,0.0027027,EXAC_AFR_AF,CABP2
247495,11:67290223:C>T,NM_001318496.1:c.57-36G>A,\N,\N,1/6,Benign,\N,intron_variant,2.392,0.00645161,EXAC_AFR_AF,CABP2
247496,11:67290224:G>A,NM_001318496.1:c.57-37C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.93,0.001,1KG_SAS_AF,CABP2
247497,11:67290287:C>T,NM_001318496.1:c.57-100G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.237,0.001,1KG_EAS_AF,CABP2
247498,11:67290288:G>A,NM_001318496.1:c.57-101C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.277,0.001,1KG_EUR_AF|1KG_SAS_AF,CABP2
247499,11:67290305:A>G,NM_001318496.1:c.57-118T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,3.853,0.0014,1KG_AMR_AF,CABP2
247500,11:67290314:G>A,NM_001318496.1:c.57-127C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.399,0.001,1KG_EAS_AF,CABP2
247501,11:67290314:G>C,NM_001318496.1:c.57-127C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.793,\N,\N,CABP2
247502,11:67290315:G>A,NM_001318496.1:c.57-128C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.582,0.003,1KG_EAS_AF,CABP2
247503,11:67290316:G>T,NM_001318496.1:c.57-129C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.06,0.002,1KG_EAS_AF,CABP2
247504,11:67290339:G>A,NM_001318496.1:c.57-152C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.955,0.001,1KG_EAS_AF|1KG_EUR_AF,CABP2
247505,11:67290370:C>G,NM_001318496.1:c.57-183G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.288,\N,\N,CABP2
247506,11:67290442:C>A,NM_001318496.1:c.57-255G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,6.059,0.0015,1KG_AFR_AF,CABP2
247507,11:67290466:G>T,NM_001318496.1:c.57-279C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.468,\N,\N,CABP2
247508,11:67290503:G>A,NM_001318496.1:c.56+253C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.892,0.0014,1KG_AMR_AF,CABP2
247509,11:67290506:G>T,NM_001318496.1:c.56+250C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.646,\N,\N,CABP2
247510,11:67290518:G>T,NM_001318496.1:c.56+238C>A,\N,\N,1/6,Benign,\N,intron_variant,2.385,0.005,1KG_EAS_AF,CABP2
247511,11:67290577:G>A,NM_001318496.1:c.56+179C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,8.179,0.001,1KG_EUR_AF,CABP2
247512,11:67290611:T>TG,NM_001318496.1:c.56+144dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,CABP2
247513,11:67290631:T>C,NM_001318496.1:c.56+125A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.066,0.0014,1KG_AMR_AF,CABP2
247514,11:67290641:G>T,NM_001318496.1:c.56+115C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.427,0.001,1KG_SAS_AF,CABP2
247515,11:67290643:G>A,NM_001318496.1:c.56+113C>T,\N,\N,1/6,Benign,\N,intron_variant,3.238,0.0696,1KG_AFR_AF,CABP2
247516,11:67290662:C>G,NM_001318496.1:c.56+94G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.713,0.0014,1KG_AMR_AF,CABP2
247517,11:67290665:G>A,NM_001318496.1:c.56+91C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.89,0.001,1KG_EUR_AF,CABP2
247518,11:67290668:C>A,NM_001318496.1:c.56+88G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.145,\N,\N,CABP2
247519,11:67290685:T>G,NM_001318496.1:c.56+71A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,9.838,0.0008,1KG_AFR_AF,CABP2
247520,11:67290723:C>T,NM_001318496.1:c.56+33G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.398,0.00107681,EXAC_AFR_AF,CABP2
247521,11:67290728:C>T,NM_001318496.1:c.56+28G>A,\N,\N,1/6,Benign,\N,intron_variant,6.633,0.0083,1KG_AFR_AF,CABP2
247522,11:67290731:G>A,NM_001318496.1:c.56+25C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,4.142,0.000119646,EVS_EA_AF,CABP2
247523,11:67290740:C>A,NM_001318496.1:c.56+16G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,5.907,\N,\N,CABP2
247524,11:67290743:T>C,NM_001318496.1:c.56+13A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.443,\N,\N,CABP2
247525,11:67290766:C>T,NM_016366.2:c.32G>A,NP_057450.2:p.Arg11Gln,1/7,\N,Likely benign,\N,missense_variant,9.111,0.00396825,EXAC_EAS_AF,CABP2
247526,11:67290767:G>A,NM_016366.2:c.31C>T,NP_057450.2:p.Arg11Trp,1/7,\N,Likely benign,\N,missense_variant,13.93,\N,\N,CABP2
247527,11:67290769:C>T,NM_016366.2:c.29G>A,NP_057450.2:p.Arg10His,1/7,\N,Likely benign,\N,missense_variant,5.567,0.000128932,EXAC_SAS_AF,CABP2
247528,11:67290770:G>A,NM_016366.2:c.28C>T,NP_057450.2:p.Arg10Cys,1/7,\N,Unknown significance,\N,missense_variant,21.7,\N,\N,CABP2
247529,11:67290778:C>T,NM_016366.2:c.20G>A,NP_057450.2:p.Arg7Gln,1/7,\N,Likely benign,\N,missense_variant,10.62,0.000113379,EXAC_NFE_AF,CABP2
247530,11:67290779:G>A,NM_016366.2:c.19C>T,NP_057450.2:p.Arg7Trp,1/7,\N,Likely benign,\N,missense_variant,9.532,\N,\N,CABP2
247531,11:67290784:G>A,NM_016366.2:c.14C>T,NP_057450.2:p.Ala5Val,1/7,\N,Likely benign,\N,missense_variant,14.52,\N,\N,CABP2
247532,11:67290785:C>A,NM_016366.2:c.13G>T,NP_057450.2:p.Ala5Ser,1/7,\N,Likely benign,\N,missense_variant,24.1,\N,\N,CABP2
247533,11:67290813:C>A,NM_001318496.1:c.-2G>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,11.3,0.000475511,EVS_AA_AF,CABP2
247534,11:67290814:C>T,NM_001318496.1:c.-3G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,10.65,0.00122382,EXAC_SAS_AF,CABP2
247535,11:67290828:C>T,NM_001318496.1:c.-17G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.619,0.000529661,EXAC_AFR_AF,CABP2
247536,11:67290829:G>A,NM_001318496.1:c.-18C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,6.657,0.000143968,EXAC_NFE_AF,CABP2
247537,11:67290839:C>T,NM_001318496.1:c.-28G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,5.593,0.000588928,EXAC_AFR_AF,CABP2
247538,11:67290840:G>A,NM_001318496.1:c.-29C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,3.369,\N,\N,CABP2
247539,11:67290846:G>T,NM_001318496.1:c.-35C>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,0.225,0.001,1KG_EUR_AF,CABP2
247540,11:67290850:C>T,NM_001318496.1:c.-39G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,6.276,0.00224215,EXAC_EAS_AF,CABP2
247541,11:67290851:G>A,NM_001318496.1:c.-40C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,1.82,0.000724375,EXAC_NFE_AF,CABP2
247542,11:67290852:G>A,NM_001318496.1:c.-41C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,2.551,0.001,1KG_EAS_AF,CABP2
247543,11:67290853:C>T,NM_001318496.1:c.-42G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,5.05,\N,\N,CABP2
247544,11:67290854:G>A,NM_001318496.1:c.-43C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,6.342,\N,\N,CABP2
247545,11:67290876:C>T,NM_001318496.1:c.-65G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.197,0.0014,1KG_AMR_AF,CABP2
247546,11:67290889:G>C,NM_001318496.1:c.-78C>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,12.21,0.0008,1KG_AFR_AF,CABP2
247547,11:67290896:C>T,NM_001318496.1:c.-85G>A,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,13.29,0.006,1KG_EAS_AF,CABP