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
463991,2:227867439:G>C,NM_000092.4:c.*4602C>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,8.789,0.1925,1KG_EAS_AF,COL4A4
463992,2:227867470:T>C,NM_000092.4:c.*4571A>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,3.61,0.0106,1KG_AFR_AF,COL4A4
463993,2:227867478:A>C,NM_000092.4:c.*4563T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.161,\N,\N,COL4A4
463994,2:227867496:T>C,NM_000092.4:c.*4545A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.381,0.0015,1KG_AFR_AF,COL4A4
463995,2:227867507:A>G,NM_000092.4:c.*4534T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.996,\N,\N,COL4A4
463996,2:227867546:G>GTCTT,NM_000092.4:c.*4491_*4494dup,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,13.99,0.0666,1KG_AFR_AF,COL4A4
463997,2:227867557:T>G,NM_000092.4:c.*4484A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,20.9,\N,\N,COL4A4
463998,2:227867577:A>G,NM_000092.4:c.*4464T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,17.06,0.0015,1KG_AFR_AF,COL4A4
463999,2:227867590:A>C,NM_000092.4:c.*4451T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,19.68,\N,\N,COL4A4
464000,2:227867595:A>C,NM_000092.4:c.*4446T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,14.33,0.001,1KG_EAS_AF,COL4A4
464001,2:227867656:T>C,NM_000092.4:c.*4385A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,19.48,0.001,1KG_EUR_AF,COL4A4
464002,2:227867684:G>A,NM_000092.4:c.*4357C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,21.4,0.001,1KG_EAS_AF,COL4A4
464003,2:227867694:G>A,NM_000092.4:c.*4347C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,21.3,0.006,1KG_EAS_AF,COL4A4
464004,2:227867719:G>A,NM_000092.4:c.*4322C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,19.67,0.7292,1KG_AFR_AF,COL4A4
464005,2:227867796:T>G,NM_000092.4:c.*4245A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.539,0.001,1KG_SAS_AF,COL4A4
464006,2:227867805:T>C,NM_000092.4:c.*4236A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.43,0.001,1KG_EAS_AF,COL4A4
464007,2:227867814:T>C,NM_000092.4:c.*4227A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,14.75,0.0008,1KG_AFR_AF,COL4A4
464008,2:227867815:T>G,NM_000092.4:c.*4226A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.32,0.0008,1KG_AFR_AF,COL4A4
464009,2:227867847:G>A,NM_000092.4:c.*4194C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,14.49,0.006,1KG_EUR_AF,COL4A4
464010,2:227867852:A>G,NM_000092.4:c.*4189T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,19.56,\N,\N,COL4A4
464011,2:227867868:T>A,NM_000092.4:c.*4173A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,21.6,0.003,1KG_AFR_AF,COL4A4
464012,2:227867877:G>A,NM_000092.4:c.*4164C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,18.72,0.0149,1KG_EUR_AF,COL4A4
464013,2:227867889:A>G,NM_000092.4:c.*4152T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,19.97,\N,\N,COL4A4
464014,2:227867894:T>G,NM_000092.4:c.*4147A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,21.4,0.0008,1KG_AFR_AF,COL4A4
464015,2:227867923:A>C,NM_000092.4:c.*4118T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,19.78,\N,\N,COL4A4
464016,2:227867938:T>TA,NM_000092.4:c.*4102dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.315,\N,\N,COL4A4
464017,2:227867938:TA>T,NM_000092.4:c.*4102del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.813,\N,\N,COL4A4
464018,2:227867960:G>A,NM_000092.4:c.*4081C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.159,\N,\N,COL4A4
464019,2:227868008:G>C,NM_000092.4:c.*4033C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.21,0.003,1KG_AFR_AF,COL4A4
464020,2:227868035:CTT>C,NM_000092.4:c.*4004_*4005del,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,12.21,0.0112,1KG_SAS_AF,COL4A4
464021,2:227868037:T>TA,NM_000092.4:c.*4003dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464022,2:227868046:A>G,NM_000092.4:c.*3995T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.465,\N,\N,COL4A4
464023,2:227868046:A>T,NM_000092.4:c.*3995T>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.673,\N,\N,COL4A4
464024,2:227868072:C>T,NM_000092.4:c.*3969G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.49,0.0014,1KG_AMR_AF,COL4A4
464025,2:227868103:T>C,NM_000092.4:c.*3938A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.466,0.001,1KG_EUR_AF,COL4A4
464026,2:227868165:C>T,NM_000092.4:c.*3876G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.051,0.0008,1KG_AFR_AF,COL4A4
464027,2:227868166:G>A,NM_000092.4:c.*3875C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.225,\N,\N,COL4A4
464028,2:227868172:C>T,NM_000092.4:c.*3869G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.493,\N,\N,COL4A4
464029,2:227868182:C>G,NM_000092.4:c.*3859G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.07,\N,\N,COL4A4
464030,2:227868219:A>T,NM_000092.4:c.*3822T>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.342,0.001,1KG_EAS_AF,COL4A4
464031,2:227868279:C>T,NM_000092.4:c.*3762G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,21.4,\N,\N,COL4A4
464032,2:227868308:G>A,NM_000092.4:c.*3733C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.778,\N,\N,COL4A4
464033,2:227868325:C>T,NM_000092.4:c.*3716G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.111,0.001,1KG_EAS_AF,COL4A4
464034,2:227868329:A>C,NM_000092.4:c.*3712T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.951,0.0014,1KG_AMR_AF,COL4A4
464035,2:227868351:T>C,NM_000092.4:c.*3690A>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,2.447,0.0194,1KG_SAS_AF,COL4A4
464036,2:227868353:G>A,NM_000092.4:c.*3688C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.363,\N,\N,COL4A4
464037,2:227868372:A>G,NM_000092.4:c.*3669T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.364,0.001,1KG_SAS_AF,COL4A4
464038,2:227868378:C>T,NM_000092.4:c.*3663G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.873,0.002,1KG_EAS_AF,COL4A4
464039,2:227868387:A>T,NM_000092.4:c.*3654T>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.93,0.0008,1KG_AFR_AF,COL4A4
464040,2:227868398:C>T,NM_000092.4:c.*3643G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,10.8,0.001,1KG_SAS_AF,COL4A4
464041,2:227868402:A>G,NM_000092.4:c.*3639T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.012,0.0043,1KG_AMR_AF,COL4A4
464042,2:227868405:G>A,NM_000092.4:c.*3636C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,2.019,0.0182,1KG_AFR_AF,COL4A4
464043,2:227868453:C>T,NM_000092.4:c.*3588G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.765,0.001,1KG_EAS_AF,COL4A4
464044,2:227868458:T>G,NM_000092.4:c.*3583A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.499,0.0015,1KG_AFR_AF,COL4A4
464045,2:227868501:C>T,NM_000092.4:c.*3540G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.718,\N,\N,COL4A4
464046,2:227868512:C>T,NM_000092.4:c.*3529G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,8.105,0.001,1KG_EAS_AF,COL4A4
464047,2:227868516:C>T,NM_000092.4:c.*3525G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.391,\N,\N,COL4A4
464048,2:227868571:G>A,NM_000092.4:c.*3470C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.139,0.0008,1KG_AFR_AF,COL4A4
464049,2:227868574:G>C,NM_000092.4:c.*3467C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.423,\N,\N,COL4A4
464050,2:227868613:C>T,NM_000092.4:c.*3428G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.144,0.0023,1KG_AFR_AF,COL4A4
464051,2:227868629:CAA>C,NM_000092.4:c.*3410_*3411del,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,7.927,0.0072,1KG_SAS_AF,COL4A4
464052,2:227868644:A>G,NM_000092.4:c.*3397T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.173,\N,\N,COL4A4
464053,2:227868666:A>C,NM_000092.4:c.*3375T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.968,\N,\N,COL4A4
464054,2:227868702:C>T,NM_000092.4:c.*3339G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.409,\N,\N,COL4A4
464055,2:227868723:A>G,NM_000092.4:c.*3318T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.64,\N,\N,COL4A4
464056,2:227868724:T>C,NM_000092.4:c.*3317A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,10.73,0.003,1KG_AFR_AF,COL4A4
464057,2:227868736:A>G,NM_000092.4:c.*3305T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,9.97,\N,\N,COL4A4
464058,2:227868772:T>C,NM_000092.4:c.*3269A>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,6.677,0.0058,1KG_AMR_AF,COL4A4
464059,2:227868787:T>G,NM_000092.4:c.*3254A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.511,0.0008,1KG_AFR_AF,COL4A4
464060,2:227868791:A>C,NM_000092.4:c.*3250T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.632,0.0008,1KG_AFR_AF,COL4A4
464061,2:227868839:C>G,NM_000092.4:c.*3202G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.002,\N,\N,COL4A4
464062,2:227868842:G>C,NM_000092.4:c.*3199C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.977,0.0008,1KG_AFR_AF,COL4A4
464063,2:227868854:C>T,NM_000092.4:c.*3187G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,10.8,0.589,1KG_SAS_AF,COL4A4
464064,2:227868866:T>C,NM_000092.4:c.*3175A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,10.01,0.0023,1KG_AFR_AF,COL4A4
464065,2:227868879:A>G,NM_000092.4:c.*3162T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.44,0.0015,1KG_AFR_AF,COL4A4
464066,2:227868882:G>T,NM_000092.4:c.*3159C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.38,\N,\N,COL4A4
464067,2:227868885:T>C,NM_000092.4:c.*3156A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.17,\N,\N,COL4A4
464068,2:227868892:A>G,NM_000092.4:c.*3149T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,10.67,\N,\N,COL4A4
464069,2:227868920:G>C,NM_000092.4:c.*3121C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.21,\N,\N,COL4A4
464070,2:227868925:C>T,NM_000092.4:c.*3116G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.451,0.001,1KG_SAS_AF,COL4A4
464071,2:227868934:TGAG>T,NM_000092.4:c.*3104_*3106del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464072,2:227868946:C>T,NM_000092.4:c.*3095G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.891,0.001,1KG_SAS_AF,COL4A4
464073,2:227868947:G>A,NM_000092.4:c.*3094C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.15,0.0014,1KG_AMR_AF,COL4A4
464074,2:227869020:G>A,NM_000092.4:c.*3021C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.489,0.001,1KG_EUR_AF,COL4A4
464075,2:227869034:C>A,NM_000092.4:c.*3007G>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.575,0.001,1KG_EUR_AF,COL4A4
464076,2:227869054:C>T,NM_000092.4:c.*2987G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.027,\N,\N,COL4A4
464077,2:227869061:G>A,NM_000092.4:c.*2980C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.069,\N,\N,COL4A4
464078,2:227869079:T>C,NM_000092.4:c.*2962A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.799,0.0043,1KG_AMR_AF,COL4A4
464079,2:227869084:A>G,NM_000092.4:c.*2957T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.273,0.0023,1KG_AFR_AF,COL4A4
464080,2:227869099:T>C,NM_000092.4:c.*2942A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.119,0.0008,1KG_AFR_AF,COL4A4
464081,2:227869123:G>A,NM_000092.4:c.*2918C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,4.81,0.0053,1KG_AFR_AF,COL4A4
464082,2:227869134:C>T,NM_000092.4:c.*2907G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.103,\N,\N,COL4A4
464083,2:227869135:G>A,NM_000092.4:c.*2906C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.206,\N,\N,COL4A4
464084,2:227869186:G>A,NM_000092.4:c.*2855C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,3.015,0.013,1KG_AMR_AF,COL4A4
464085,2:227869192:C>T,NM_000092.4:c.*2849G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.775,0.001,1KG_EUR_AF,COL4A4
464086,2:227869193:G>A,NM_000092.4:c.*2848C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.706,0.0015,1KG_AFR_AF,COL4A4
464087,2:227869194:G>A,NM_000092.4:c.*2847C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.211,\N,\N,COL4A4
464088,2:227869198:C>T,NM_000092.4:c.*2843G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.317,0.002,1KG_SAS_AF,COL4A4
464089,2:227869230:A>G,NM_000092.4:c.*2811T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.558,\N,\N,COL4A4
464090,2:227869336:C>T,NM_000092.4:c.*2705G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.714,0.0008,1KG_AFR_AF,COL4A4
464091,2:227869355:G>GA,NM_000092.4:c.*2685dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.941,0.003,1KG_AFR_AF,COL4A4
464092,2:227869360:A>C,NM_000092.4:c.*2681T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.922,0.001,1KG_EUR_AF,COL4A4
464093,2:227869367:C>T,NM_000092.4:c.*2674G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.356,0.003,1KG_EAS_AF,COL4A4
464094,2:227869375:C>T,NM_000092.4:c.*2666G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.535,0.0008,1KG_AFR_AF,COL4A4
464095,2:227869380:A>T,NM_000092.4:c.*2661T>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,2.982,0.0068,1KG_AFR_AF,COL4A4
464096,2:227869392:A>G,NM_000092.4:c.*2649T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.846,0.001,1KG_SAS_AF,COL4A4
464097,2:227869394:G>A,NM_000092.4:c.*2647C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,4.398,0.0061,1KG_SAS_AF,COL4A4
464098,2:227869420:G>C,NM_000092.4:c.*2621C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.763,0.001,1KG_SAS_AF,COL4A4
464099,2:227869428:C>T,NM_000092.4:c.*2613G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.686,0.0068,1KG_AFR_AF,COL4A4
464100,2:227869436:G>A,NM_000092.4:c.*2605C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.69,0.0031,1KG_SAS_AF,COL4A4
464101,2:227869511:C>T,NM_000092.4:c.*2530G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.061,\N,\N,COL4A4
464102,2:227869524:G>A,NM_000092.4:c.*2517C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.309,\N,\N,COL4A4
464103,2:227869554:G>T,NM_000092.4:c.*2487C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.423,0.001,1KG_EUR_AF,COL4A4
464104,2:227869596:T>G,NM_000092.4:c.*2445A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.198,0.0043,1KG_AMR_AF,COL4A4
464105,2:227869605:G>T,NM_000092.4:c.*2436C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.66,\N,\N,COL4A4
464106,2:227869610:T>C,NM_000092.4:c.*2431A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.622,0.001,1KG_SAS_AF,COL4A4
464107,2:227869657:C>G,NM_000092.4:c.*2384G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.418,\N,\N,COL4A4
464108,2:227869657:C>T,NM_000092.4:c.*2384G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.465,\N,\N,COL4A4
464109,2:227869696:A>G,NM_000092.4:c.*2345T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.732,0.0008,1KG_AFR_AF,COL4A4
464110,2:227869704:G>A,NM_000092.4:c.*2337C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.352,0.0014,1KG_AMR_AF,COL4A4
464111,2:227869713:A>C,NM_000092.4:c.*2328T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.16,\N,\N,COL4A4
464112,2:227869717:G>C,NM_000092.4:c.*2324C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.295,\N,\N,COL4A4
464113,2:227869730:G>A,NM_000092.4:c.*2311C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,1.781,0.0219,1KG_AFR_AF,COL4A4
464114,2:227869738:T>TA,NM_000092.4:c.*2302dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.435,0.0023,1KG_AFR_AF,COL4A4
464115,2:227869748:A>C,NM_000092.4:c.*2293T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.681,\N,\N,COL4A4
464116,2:227869764:T>C,NM_000092.4:c.*2277A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.607,0.0015,1KG_AFR_AF,COL4A4
464117,2:227869772:C>T,NM_000092.4:c.*2269G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.525,0.0014,1KG_AMR_AF,COL4A4
464118,2:227869785:T>C,NM_000092.4:c.*2256A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.037,\N,\N,COL4A4
464119,2:227869802:A>G,NM_000092.4:c.*2239T>C,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,3.531,0.0219,1KG_AFR_AF,COL4A4
464120,2:227869805:G>A,NM_000092.4:c.*2236C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.448,0.0008,1KG_AFR_AF,COL4A4
464121,2:227869838:A>G,NM_000092.4:c.*2203T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.531,\N,\N,COL4A4
464122,2:227869865:T>C,NM_000092.4:c.*2176A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.409,\N,\N,COL4A4
464123,2:227869890:G>A,NM_000092.4:c.*2151C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.279,\N,\N,COL4A4
464124,2:227869894:A>G,NM_000092.4:c.*2147T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.558,0.001,1KG_EUR_AF,COL4A4
464125,2:227869918:G>T,NM_000092.4:c.*2123C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.996,\N,\N,COL4A4
464126,2:227869920:G>GTT,NM_000092.4:c.*2119_*2120dup,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.562,0.084,1KG_AFR_AF,COL4A4
464127,2:227869920:GT>G,NM_000092.4:c.*2120del,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.224,0.4284,1KG_SAS_AF,COL4A4
464128,2:227869934:CTTAT>C,NM_000092.4:c.*2103_*2106del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.102,\N,\N,COL4A4
464129,2:227869950:T>C,NM_000092.4:c.*2091A>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,1.44,0.0053,1KG_AFR_AF,COL4A4
464130,2:227870005:A>G,NM_000092.4:c.*2036T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.277,0.001,1KG_SAS_AF,COL4A4
464131,2:227870006:T>A,NM_000092.4:c.*2035A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.46,0.0014,1KG_AMR_AF,COL4A4
464132,2:227870009:G>A,NM_000092.4:c.*2032C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.141,0.0008,1KG_AFR_AF,COL4A4
464133,2:227870013:C>G,NM_000092.4:c.*2028G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.751,\N,\N,COL4A4
464134,2:227870027:G>A,NM_000092.4:c.*2014C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.291,0.0015,1KG_AFR_AF,COL4A4
464135,2:227870091:T>C,NM_000092.4:c.*1950A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.201,\N,\N,COL4A4
464136,2:227870098:G>A,NM_000092.4:c.*1943C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.112,\N,\N,COL4A4
464137,2:227870158:T>A,NM_000092.4:c.*1883A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,9.127,\N,\N,COL4A4
464138,2:227870219:A>G,NM_000092.4:c.*1822T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.786,\N,\N,COL4A4
464139,2:227870229:G>A,NM_000092.4:c.*1812C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.562,\N,\N,COL4A4
464140,2:227870230:G>A,NM_000092.4:c.*1811C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.563,0.0008,1KG_AFR_AF,COL4A4
464141,2:227870238:G>A,NM_000092.4:c.*1803C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.63,\N,\N,COL4A4
464142,2:227870248:A>G,NM_000092.4:c.*1793T>C,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,12.31,0.0106,1KG_AFR_AF,COL4A4
464143,2:227870267:A>AG,NM_000092.4:c.*1773_*1774insC,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464144,2:227870282:A>AAAT,NM_000092.4:c.*1756_*1758dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464145,2:227870297:T>A,NM_000092.4:c.*1744A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.03,\N,\N,COL4A4
464146,2:227870354:A>C,NM_000092.4:c.*1687T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.012,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
464147,2:227870407:G>T,NM_000092.4:c.*1634C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.73,\N,\N,COL4A4
464148,2:227870431:A>T,NM_000092.4:c.*1610T>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,12.18,0.0053,1KG_AFR_AF,COL4A4
464149,2:227870440:A>T,NM_000092.4:c.*1601T>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,15.29,0.0076,1KG_AFR_AF,COL4A4
464150,2:227870535:A>G,NM_000092.4:c.*1506T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.344,0.0014,1KG_AMR_AF,COL4A4
464151,2:227870551:G>T,NM_000092.4:c.*1490C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.663,0.0015,1KG_AFR_AF,COL4A4
464152,2:227870576:A>T,NM_000092.4:c.*1465T>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,9.607,0.0179,1KG_EAS_AF,COL4A4
464153,2:227870577:T>A,NM_000092.4:c.*1464A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.9,0.001,1KG_EUR_AF,COL4A4
464154,2:227870665:AT>A,NM_000092.4:c.*1375del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.852,\N,\N,COL4A4
464155,2:227870695:A>G,NM_000092.4:c.*1346T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.74,0.001,1KG_EUR_AF,COL4A4
464156,2:227870731:G>A,NM_000092.4:c.*1310C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.928,\N,\N,COL4A4
464157,2:227870752:T>TA,NM_000092.4:c.*1288dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464158,2:227870755:G>C,NM_000092.4:c.*1286C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.483,0.0023,1KG_AFR_AF,COL4A4
464159,2:227870782:C>T,NM_000092.4:c.*1259G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.214,\N,\N,COL4A4
464160,2:227870789:G>C,NM_000092.4:c.*1252C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.604,\N,\N,COL4A4
464161,2:227870814:G>A,NM_000092.4:c.*1227C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.567,0.0031,1KG_SAS_AF,COL4A4
464162,2:227870870:G>A,NM_000092.4:c.*1171C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.627,0.001,1KG_EAS_AF,COL4A4
464163,2:227870884:G>T,NM_000092.4:c.*1157C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.901,0.0008,1KG_AFR_AF,COL4A4
464164,2:227870920:T>G,NM_000092.4:c.*1121A>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,14.94,0.003,1KG_AFR_AF,COL4A4
464165,2:227870938:AT>A,NM_000092.4:c.*1102del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464166,2:227870964:C>T,NM_000092.4:c.*1077G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.54,0.001,1KG_EAS_AF,COL4A4
464167,2:227870967:TG>T,NM_000092.4:c.*1073del,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.69,0.004,1KG_EAS_AF,COL4A4
464168,2:227870972:C>T,NM_000092.4:c.*1069G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.375,\N,\N,COL4A4
464169,2:227870977:C>G,NM_000092.4:c.*1064G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.331,0.0008,1KG_AFR_AF,COL4A4
464170,2:227870985:G>A,NM_000092.4:c.*1056C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.63,0.0014,1KG_AMR_AF,COL4A4
464171,2:227871050:G>C,NM_000092.4:c.*991C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.393,0.0045,1KG_AFR_AF,COL4A4
464172,2:227871096:G>A,NM_000092.4:c.*945C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.211,\N,\N,COL4A4
464173,2:227871098:G>GC,NM_000092.4:c.*942dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,COL4A4
464174,2:227871127:G>A,NM_000092.4:c.*914C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.553,\N,\N,COL4A4
464175,2:227871146:C>T,NM_000092.4:c.*895G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,5.924,0.001,1KG_EUR_AF,COL4A4
464176,2:227871153:C>T,NM_000092.4:c.*888G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,14.21,\N,\N,COL4A4
464177,2:227871182:T>G,NM_000092.4:c.*859A>C,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,9.515,0.0091,1KG_AFR_AF,COL4A4
464178,2:227871184:C>T,NM_000092.4:c.*857G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,3.131,0.005,1KG_EUR_AF,COL4A4
464179,2:227871200:C>T,NM_000092.4:c.*841G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,13.52,0.0119,1KG_EUR_AF,COL4A4
464180,2:227871238:C>T,NM_000092.4:c.*803G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,14.73,0.001,1KG_SAS_AF,COL4A4
464181,2:227871260:T>C,NM_000092.4:c.*781A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.91,0.001,1KG_EUR_AF,COL4A4
464182,2:227871266:A>AT,NM_000092.4:c.*774dup,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,8.956,0.6437,1KG_AFR_AF,COL4A4
464183,2:227871266:A>ATT,NM_000092.4:c.*773_*774dup,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,8.85,\N,\N,COL4A4
464184,2:227871275:C>T,NM_000092.4:c.*766G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.9,\N,\N,COL4A4
464185,2:227871286:A>G,NM_000092.4:c.*755T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.21,0.0023,1KG_AFR_AF,COL4A4
464186,2:227871294:A>G,NM_000092.4:c.*747T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.91,\N,\N,COL4A4
464187,2:227871319:T>C,NM_000092.4:c.*722A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,12.52,0.0031,1KG_SAS_AF,COL4A4
464188,2:227871323:C>G,NM_000092.4:c.*718G>C,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,12.92,0.0227,1KG_AFR_AF,COL4A4
464189,2:227871336:A>G,NM_000092.4:c.*705T>C,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,13.07,0.013,1KG_AMR_AF,COL4A4
464190,2:227871402:C>T,NM_000092.4:c.*639G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.071,0.001,1KG_EAS_AF,COL4A4
464191,2:227871460:C>T,NM_000092.4:c.*581G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.055,0.0696,1KG_AFR_AF,COL4A4
464192,2:227871463:T>C,NM_000092.4:c.*578A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.602,\N,\N,COL4A4
464193,2:227871472:G>T,NM_000092.4:c.*569C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.294,\N,\N,COL4A4
464194,2:227871474:AT>A,NM_000092.4:c.*566del,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.075,0.5869,1KG_SAS_AF,COL4A4
464195,2:227871483:T>C,NM_000092.4:c.*558A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.237,0.002,1KG_EAS_AF,COL4A4
464196,2:227871503:C>A,NM_000092.4:c.*538G>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.007,0.0008,1KG_AFR_AF,COL4A4
464197,2:227871512:C>T,NM_000092.4:c.*529G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.062,\N,\N,COL4A4
464198,2:227871513:G>A,NM_000092.4:c.*528C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,2.893,0.001,1KG_SAS_AF,COL4A4
464199,2:227871539:A>G,NM_000092.4:c.*502T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,7.929,\N,\N,COL4A4
464200,2:227871541:A>G,NM_000092.4:c.*500T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,8.134,0.002,1KG_SAS_AF,COL4A4
464201,2:227871549:A>G,NM_000092.4:c.*492T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,8.684,\N,\N,COL4A4
464202,2:227871550:T>C,NM_000092.4:c.*491A>G,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,4.967,0.0091,1KG_AFR_AF,COL4A4
464203,2:227871569:T>A,NM_000092.4:c.*472A>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,12.41,0.0219,1KG_AFR_AF,COL4A4
464204,2:227871579:T>A,NM_000092.4:c.*462A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,11.98,0.0014,1KG_AMR_AF,COL4A4
464205,2:227871683:T>C,NM_000092.4:c.*358A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,4.925,0.001,1KG_EUR_AF,COL4A4
464206,2:227871719:A>G,NM_000092.4:c.*322T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,9.542,\N,\N,COL4A4
464207,2:227871757:T>A,NM_000092.4:c.*284A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.847,\N,\N,COL4A4
464208,2:227871771:A>T,NM_000092.4:c.*270T>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.054,0.001,1KG_EAS_AF,COL4A4
464209,2:227871779:A>G,NM_000092.4:c.*262T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.393,0.003,1KG_AFR_AF,COL4A4
464210,2:227871788:C>T,NM_000092.4:c.*253G>A,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,3.372,0.0051,1KG_SAS_AF,COL4A4
464211,2:227871797:G>A,NM_000092.4:c.*244C>T,\N,48/48,\N,Benign,\N,3_prime_UTR_variant,0.038,0.1905,1KG_EAS_AF,COL4A4
464212,2:227871797:G>T,NM_000092.4:c.*244C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.014,\N,\N,COL4A4
464213,2:227871899:T>A,NM_000092.4:c.*142A>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,3.808,0.001,1KG_SAS_AF,COL4A4
464214,2:227871916:C>T,NM_000092.4:c.*125G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.112,\N,\N,COL4A4
464215,2:227871956:A>G,NM_000092.4:c.*85T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,13.33,0.0014,1KG_AMR_AF,COL4A4
464216,2:227871993:C>A,NM_000092.4:c.*48G>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.138,0.0000149853,EXAC_NFE_AF,COL4A4
464217,2:227871993:C>T,NM_000092.4:c.*48G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.708,0.0000149853,EXAC_NFE_AF,COL4A4
464218,2:227871994:C>G,NM_000092.4:c.*47G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.26,0.000060562,EXAC_SAS_AF,COL4A4
464219,2:227871996:C>G,NM_000092.4:c.*45G>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.693,0.000014984,EXAC_NFE_AF,COL4A4
464220,2:227871996:C>T,NM_000092.4:c.*45G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,1.612,0.001,1KG_EAS_AF,COL4A4
464221,2:227872008:C>A,NM_000092.4:c.*33G>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,6.212,0.000060562,EXAC_SAS_AF,COL4A4
464222,2:227872018:C>T,NM_000092.4:c.*23G>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.171,0.00060562,EXAC_SAS_AF,COL4A4
464223,2:227872019:G>A,NM_000092.4:c.*22C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.262,0.000014984,EXAC_NFE_AF,COL4A4
464224,2:227872019:G>C,NM_000092.4:c.*22C>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.036,0.000121124,EXAC_SAS_AF,COL4A4
464225,2:227872019:G>T,NM_000092.4:c.*22C>A,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.066,0.0000449519,EXAC_NFE_AF,COL4A4
464226,2:227872023:T>C,NM_000092.4:c.*18A>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.521,0.00030281,EXAC_SAS_AF,COL4A4
464227,2:227872024:G>A,NM_000092.4:c.*17C>T,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.339,0.000102041,EXAC_AFR_AF,COL4A4
464228,2:227872028:A>C,NM_000092.4:c.*13T>G,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.252,0.000060562,EXAC_SAS_AF,COL4A4
464229,2:227872036:A>G,NM_000092.4:c.*5T>C,\N,48/48,\N,Unknown significance,\N,3_prime_UTR_variant,0.356,0.000121124,EXAC_SAS_AF,COL4A4
464230,2:227872041:C>G,NM_000092.4:c.5073G>C,NP_000083.3:p.Ter1691TyrextTer24,48/48,\N,Unknown significance,\N,stop_lost,6.507,0.0000299679,EXAC_NFE_AF,COL4A4
464231,2:227872043:A>G,NM_000092.4:c.5071T>C,NP_000083.3:p.Ter1691GlnextTer24,48/48,\N,Unknown significance,\N,stop_lost,14.2,0.000239923,EVS_EA_AF,COL4A4
464232,2:227872044:G>C,NM_000092.4:c.5070C>G,NP_000083.3:p.Ser1690Arg,48/48,\N,Unknown significance,\N,missense_variant,21.8,0.000151194,EXAC_FIN_AF,COL4A4
464233,2:227872050:C>T,NM_000092.4:c.5064G>A,NP_000083.3:p.Lys1688=,48/48,\N,Unknown significance,\N,synonymous_variant,6.961,0.000060562,EXAC_SAS_AF,COL4A4
464234,2:227872055:C>T,NM_000092.4:c.5059G>A,NP_000083.3:p.Val1687Met,48/48,\N,Likely benign,\N,missense_variant,0.005,0.000242248,EXAC_SAS_AF,COL4A4
464235,2:227872069:C>T,NM_000092.4:c.5045G>A,NP_000083.3:p.Arg1682Gln,48/48,\N,Likely pathogenic,Alport syndrome,missense_variant,28.4,0.000240211,EVS_EA_AF,COL4A4
464236,2:227872070:G>A,NM_000092.4:c.5044C>T,NP_000083.3:p.Arg1682Trp,48/48,\N,Pathogenic,Alport syndrome,missense_variant,25.2,0.0000149835,EXAC_NFE_AF,COL4A4
464237,2:227872081:T>C,NM_000092.4:c.5033A>G,NP_000083.3:p.Gln1678Arg,48/48,\N,Likely benign,\N,missense_variant,13.45,\N,\N,COL4A4
464238,2:227872084:C>T,NM_000092.4:c.5030G>A,NP_000083.3:p.Arg1677His,48/48,\N,Unknown significance,\N,missense_variant,26.9,0.0000863856,EXAC_AMR_AF,COL4A4
464239,2:227872085:G>A,NM_000092.4:c.5029C>T,NP_000083.3:p.Arg1677Cys,48/48,\N,Likely pathogenic,Alport syndrome,missense_variant,28,0.000431928,EXAC_AMR_AF,COL4A4
464240,2:227872089:G>A,NM_000092.4:c.5025C>T,NP_000083.3:p.Ala1675=,48/48,\N,Unknown significance,\N,synonymous_variant,11.28,0.000115929,EXAC_EAS_AF,COL4A4
464241,2:227872091:C>T,NM_000092.4:c.5023G>A,NP_000083.3:p.Ala1675Thr,48/48,\N,Likely benign,\N,missense_variant,23.1,\N,\N,COL4A4
464242,2:227872095:G>A,NM_000092.4:c.5019C>T,NP_000083.3:p.Ser1673=,48/48,\N,Unknown significance,\N,synonymous_variant,10.55,0.00104336,EXAC_EAS_AF,COL4A4
464243,2:227872096:CTTTCT>C,NM_000092.4:c.5013_5017del,NP_000083.3:p.Glu1672ProfsTer17,48/48,\N,Pathogenic,Alport syndrome,frameshift_variant,\N,\N,\N,COL4A4
464244,2:227872098:T>C,NM_000092.4:c.5016A>G,NP_000083.3:p.Glu1672=,48/48,\N,Benign,\N,synonymous_variant,0.3,0.0121,1KG_AFR_AF,COL4A4
464245,2:227872112:C>G,NM_000092.4:c.5002G>C,NP_000083.3:p.Asp1668His,48/48,\N,Unknown significance,\N,missense_variant,24.6,0.000014984,EXAC_NFE_AF,COL4A4
464246,2:227872116:T>A,NM_000092.4:c.4998A>T,NP_000083.3:p.Ala1666=,48/48,\N,Unknown significance,\N,synonymous_variant,7.938,0.000115929,EXAC_EAS_AF,COL4A4
464247,2:227872121:G>T,NM_000092.4:c.4993C>A,NP_000083.3:p.Pro1665Thr,48/48,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,COL4A4
464248,2:227872126:G>C,NM_000092.4:c.4988C>G,NP_000083.3:p.Ser1663Cys,48/48,\N,Unknown significance,\N,missense_variant,20.6,0.000231857,EXAC_EAS_AF,COL4A4
464249,2:227872132:A>T,NM_000092.4:c.4982T>A,NP_000083.3:p.Phe1661Tyr,48/48,\N,Unknown significance,\N,missense_variant,23.3,0.000329647,EXAC_NFE_AF,COL4A4
464250,2:227872136:G>T,NM_000092.4:c.4978C>A,NP_000083.3:p.Gln1660Lys,48/48,\N,Unknown significance,\N,missense_variant,16.5,0.0000863856,EXAC_AMR_AF,COL4A4
464251,2:227872139:A>G,NM_000092.4:c.4975T>C,NP_000083.3:p.Leu1659=,48/48,\N,Unknown significance,\N,synonymous_variant,1.276,0.001,1KG_EUR_AF,COL4A4
464252,2:227872142:C>G,NM_000092.4:c.4972G>C,NP_000083.3:p.Asp1658His,48/48,\N,Likely benign,\N,missense_variant,22.7,0.0000449532,EXAC_NFE_AF,COL4A4
464253,2:227872143:T>C,NM_000092.4:c.4971A>G,NP_000083.3:p.Ala1657=,48/48,\N,Unknown significance,\N,synonymous_variant,0.863,0.00025355,EVS_AA_AF,COL4A4
464254,2:227872144:G>C,NM_000092.4:c.4970C>G,NP_000083.3:p.Ala1657Gly,48/48,\N,Unknown significance,\N,missense_variant,21.8,\N,\N,COL4A4
464255,2:227872145:C>T,NM_000092.4:c.4969G>A,NP_000083.3:p.Ala1657Thr,48/48,\N,Likely benign,\N,missense_variant,21.1,0.000060562,EXAC_SAS_AF,COL4A4
464256,2:227872152:C>G,NM_000092.4:c.4962G>C,NP_000083.3:p.Thr1654=,48/48,\N,Unknown significance,\N,synonymous_variant,2.742,0.00011999,EVS_EA_AF,COL4A4
464257,2:227872152:C>T,NM_000092.4:c.4962G>A,NP_000083.3:p.Thr1654=,48/48,\N,Unknown significance,\N,synonymous_variant,7.349,0.000242248,EXAC_SAS_AF,COL4A4
464258,2:227872153:G>A,NM_000092.4:c.4961C>T,NP_000083.3:p.Thr1654Met,48/48,\N,Unknown significance,\N,missense_variant,23.2,0.000060562,EXAC_SAS_AF,COL4A4
464259,2:227872155:T>C,NM_000092.4:c.4959A>G,NP_000083.3:p.Thr1653=,48/48,\N,Unknown significance,\N,synonymous_variant,0.01,0.002,1KG_SAS_AF,COL4A4
464260,2:227872158:G>A,NM_000092.4:c.4956C>T,NP_000083.3:p.Leu1652=,48/48,\N,Unknown significance,\N,synonymous_variant,0.825,0.000115929,EXAC_EAS_AF,COL4A4
464261,2:227872164:G>C,NM_000092.4:c.4950C>G,NP_000083.3:p.Phe1650Leu,48/48,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_EUR_AF,COL4A4
464262,2:227872169:T>C,NM_000092.4:c.4945A>G,NP_000083.3:p.Ser1649Gly,48/48,\N,Unknown significance,\N,missense_variant,23.3,0.001,1KG_EAS_AF,COL4A4
464263,2:227872171:T>C,NM_000092.4:c.4943A>G,NP_000083.3:p.Tyr1648Cys,48/48,\N,Unknown significance,\N,missense_variant,23.8,0.000345543,EXAC_AMR_AF,COL4A4
464264,2:227872177:T>C,NM_000092.4:c.4937A>G,NP_000083.3:p.Asn1646Ser,48/48,\N,Unknown significance,\N,missense_variant,20.8,0.000204082,EXAC_AFR_AF,COL4A4
464265,2:227872181:C>T,NM_000092.4:c.4933G>A,NP_000083.3:p.Ala1645Thr,48/48,\N,Unknown significance,\N,missense_variant,25.9,0.000115929,EXAC_EAS_AF,COL4A4
464266,2:227872182:G>A,NM_000092.4:c.4932C>T,NP_000083.3:p.Phe1644=,48/48,\N,Benign,\N,synonymous_variant,13.51,0.6369,1KG_AFR_AF,COL4A4
464267,2:227872190:G>A,NM_000092.4:c.4924C>T,NP_000083.3:p.His1642Tyr,48/48,\N,Unknown significance,\N,missense_variant,24.4,0.000120482,EVS_EA_AF,COL4A4
464268,2:227872191:G>T,NM_000092.4:c.4923C>A,NP_000083.3:p.Cys1641Ter,48/48,\N,Pathogenic,Alport syndrome,stop_gained,41,\N,\N,COL4A4
464269,2:227872192:C>T,NM_000092.4:c.4922G>A,NP_000083.3:p.Cys1641Tyr,48/48,\N,Unknown significance,\N,missense_variant,25.3,\N,\N,COL4A4
464270,2:227872199:C>G,NM_000092.4:c.4915G>C,NP_000083.3:p.Gly1639Arg,48/48,\N,Unknown significance,\N,missense_variant,26.2,0.000115929,EXAC_EAS_AF,COL4A4
464271,2:227872202:G>C,NM_000092.4:c.4912C>G,NP_000083.3:p.Gln1638Glu,48/48,\N,Unknown significance,\N,missense_variant,22.7,0.0000749243,EXAC_NFE_AF,COL4A4
464272,2:227872205:G>A,NM_000092.4:c.4909C>T,NP_000083.3:p.Arg1637Trp,48/48,\N,Unknown significance,\N,missense_variant,26.9,0.000181686,EXAC_SAS_AF,COL4A4
464273,2:227872207:C>T,NM_000092.4:c.4907G>A,NP_000083.3:p.Gly1636Asp,48/48,\N,Unknown significance,\N,missense_variant,25.7,0.0000149849,EXAC_NFE_AF,COL4A4
464274,2:227872212:G>A,NM_000092.4:c.4902C>T,NP_000083.3:p.Cys1634=,48/48,\N,Unknown significance,\N,synonymous_variant,8.735,\N,\N,COL4A4
464275,2:227872214:A>T,NM_000092.4:c.4900T>A,NP_000083.3:p.Cys1634Ser,48/48,\N,Pathogenic,Alport syndrome,missense_variant,23.7,\N,\N,COL4A4
464276,2:227872215:T>C,NM_000092.4:c.4899A>G,NP_000083.3:p.Glu1633=,48/48,\N,Unknown significance,\N,synonymous_variant,2.144,0.000115929,EXAC_EAS_AF,COL4A4
464277,2:227872225:G>T,NM_000092.4:c.4889C>A,NP_000083.3:p.Pro1630Gln,48/48,\N,Unknown significance,\N,missense_variant,24.3,0.0000149849,EXAC_NFE_AF,COL4A4
464278,2:227872241:C>A,NM_000092.4:c.4873G>T,NP_000083.3:p.Asp1625Tyr,48/48,\N,Unknown significance,\N,missense_variant,26,0.000060562,EXAC_SAS_AF,COL4A4
464279,2:227872244:C>T,NM_000092.4:c.4870G>A,NP_000083.3:p.Glu1624Lys,48/48,\N,Unknown significance,\N,missense_variant,25.8,0.0008,1KG_AFR_AF,COL4A4
464280,2:227872246:A>G,NM_000092.4:c.4868T>C,NP_000083.3:p.Leu1623Pro,48/48,\N,Unknown significance,\N,missense_variant,24.6,0.0000864006,EXAC_AMR_AF,COL4A4
464281,2:227872247:G>T,NM_000092.4:c.4867C>A,NP_000083.3:p.Leu1623Met,48/48,\N,Unknown significance,\N,missense_variant,23,0.000121124,EXAC_SAS_AF,COL4A4
464282,2:227872257:A>G,NM_000092.4:c.4857T>C,NP_000083.3:p.Pro1619=,48/48,\N,Benign,\N,synonymous_variant,0.026,0.00962207,EXAC_EAS_AF,COL4A4
464283,2:227872264:A>G,NM_000092.4:c.4850T>C,NP_000083.3:p.Met1617Thr,48/48,\N,Likely benign,\N,missense_variant,12.03,0.0000149912,EXAC_NFE_AF,COL4A4
464284,2:227872269:G>A,NM_000092.4:c.4845C>T,NP_000083.3:p.Ala1615=,48/48,\N,Unknown significance,\N,synonymous_variant,11.47,0.0000149939,EXAC_NFE_AF,COL4A4
464285,2:227872275:CCCT>C,NM_000092.4:c.4836_4838del,NP_000083.3:p.Gly1613del,48/48,\N,Unknown significance,\N,inframe_deletion,21.9,0.000060562,EXAC_SAS_AF,COL4A4
464286,2:227872277:C>T,NM_000092.4:c.4837G>A,NP_000083.3:p.Gly1613Arg,48/48,\N,Unknown significance,\N,missense_variant,26.2,0.000254972,EVS_AA_AF,COL4A4
464287,2:227872285:T>C,NM_000092.4:c.4829A>G,NP_000083.3:p.Gln1610Arg,48/48,\N,Unknown significance,\N,missense_variant,23.8,0.0008,1KG_AFR_AF,COL4A4
464288,2:227872286:G>C,NM_000092.4:c.4828C>G,NP_000083.3:p.Gln1610Glu,48/48,\N,Unknown significance,\N,missense_variant,11.05,0.000060562,EXAC_SAS_AF,COL4A4
464289,2:227872297:C>T,NM_000092.4:c.4817G>A,NP_000083.3:p.Gly1606Glu,48/48,\N,Likely pathogenic,Thin basement membrane disease,missense_variant,24.7,0.000464792,EXAC_EAS_AF,COL4A4
464290,2:227872298:C>G,NM_000092.4:c.4816G>C,NP_000083.3:p.Gly1606Arg,48/48,\N,Unknown significance,\N,missense_variant,25.9,0.0000605694,EXAC_SAS_AF,COL4A4
464291,2:227872300:G>A,NM_000092.4:c.4814C>T,NP_000083.3:p.Thr1605Ile,48/48,\N,Unknown significance,\N,missense_variant,24.7,0.000257334,EVS_AA_AF,COL4A4
464292,2:227872311:A>G,NM_000092.4:c.4810-7T>C,\N,\N,47/47,Unknown significance,\N,splice_region_variant&intron_variant,9.045,0.001,1KG_SAS_AF,COL4A4
464293,2:227872312:G>C,NM_000092.4:c.4810-8C>G,\N,\N,47/47,Unknown significance,\N,splice_region_variant&intron_variant,9.692,0.000181818,EXAC_SAS_AF,COL4A4
464294,2:227872317:CAA>C,NM_000092.4:c.4810-15_4810-14del,\N,\N,47/47,Unknown significance,\N,intron_variant,12.67,0.000233318,EXAC_EAS_AF,COL4A4
464295,2:227872324:G>T,NM_000092.4:c.4810-20C>A,\N,\N,47/47,Unknown significance,\N,intron_variant,7.944,0.000015146,EXAC_NFE_AF,COL4A4
464296,2:227872327:T>C,NM_000092.4:c.4810-23A>G,\N,\N,47/47,Unknown significance,\N,intron_variant,9.763,0.0000303196,EXAC_NFE_AF,COL4A4
464297,2:227872334:T>C,NM_000092.4:c.4810-30A>G,\N,\N,47/47,Unknown significance,\N,intron_variant,8.685,0.000197382,EXAC_NFE_AF,COL4A4
464298,2:227872337:GAC>G,NM_000092.4:c.4810-35_4810-34del,\N,\N,47/47,Unknown significance,\N,intron_variant,\N,0.0000152365,EXAC_NFE_AF,COL4A4
464299,2:227872337:GACAC>G,NM_000092.4:c.4810-37_4810-34del,\N,\N,47/47,Unknown significance,\N,intron_variant,11.83,0.000121433,EXAC_SAS_AF,COL4A4
464300,2:227872339:C>T,NM_000092.4:c.4810-35G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,1.225,0.0000152341,EXAC_NFE_AF,COL4A4
464301,2:227872345:C>A,NM_000092.4:c.4810-41G>T,\N,\N,47/47,Unknown significance,\N,intron_variant,7.6,0.0000607755,EXAC_SAS_AF,COL4A4
464302,2:227872345:C>G,NM_000092.4:c.4810-41G>C,\N,\N,47/47,Unknown significance,\N,intron_variant,4.702,0.000030672,EXAC_NFE_AF,COL4A4
464303,2:227872347:G>C,NM_000092.4:c.4810-43C>G,\N,\N,47/47,Unknown significance,\N,intron_variant,1.842,0.000121389,EVS_EA_AF,COL4A4
464304,2:227872355:C>G,NM_000092.4:c.4810-51G>C,\N,\N,47/47,Unknown significance,\N,intron_variant,7.162,0.0023,1KG_AFR_AF,COL4A4
464305,2:227872421:A>C,NM_000092.4:c.4810-117T>G,\N,\N,47/47,Unknown significance,\N,intron_variant,1.657,0.001,1KG_EAS_AF,COL4A4
464306,2:227872433:AC>A,NM_000092.4:c.4810-130del,\N,\N,47/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464307,2:227872439:G>A,NM_000092.4:c.4810-135C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,2.113,0.0038,1KG_AFR_AF,COL4A4
464308,2:227872447:G>A,NM_000092.4:c.4810-143C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,5.681,\N,\N,COL4A4
464309,2:227872465:G>C,NM_000092.4:c.4810-161C>G,\N,\N,47/47,Unknown significance,\N,intron_variant,0.019,\N,\N,COL4A4
464310,2:227872495:C>G,NM_000092.4:c.4810-191G>C,\N,\N,47/47,Unknown significance,\N,intron_variant,5.205,0.0023,1KG_AFR_AF,COL4A4
464311,2:227872513:ACT>A,NM_000092.4:c.4810-211_4810-210del,\N,\N,47/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464312,2:227872527:T>A,NM_000092.4:c.4809+207A>T,\N,\N,47/47,Unknown significance,\N,intron_variant,7.768,\N,\N,COL4A4
464313,2:227872533:C>T,NM_000092.4:c.4809+201G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,3.143,\N,\N,COL4A4
464314,2:227872535:A>G,NM_000092.4:c.4809+199T>C,\N,\N,47/47,Unknown significance,\N,intron_variant,3.466,0.003,1KG_AFR_AF,COL4A4
464315,2:227872596:A>G,NM_000092.4:c.4809+138T>C,\N,\N,47/47,Unknown significance,\N,intron_variant,2.52,0.0023,1KG_AFR_AF,COL4A4
464316,2:227872614:C>T,NM_000092.4:c.4809+120G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,0.719,0.002,1KG_SAS_AF,COL4A4
464317,2:227872615:G>A,NM_000092.4:c.4809+119C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,0.94,0.002,1KG_EAS_AF,COL4A4
464318,2:227872617:A>G,NM_000092.4:c.4809+117T>C,\N,\N,47/47,Benign,\N,intron_variant,4.968,0.7337,1KG_AFR_AF,COL4A4
464319,2:227872624:T>C,NM_000092.4:c.4809+110A>G,\N,\N,47/47,Unknown significance,\N,intron_variant,1.737,0.0014,1KG_AMR_AF,COL4A4
464320,2:227872633:C>T,NM_000092.4:c.4809+101G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,2.516,0.001,1KG_SAS_AF,COL4A4
464321,2:227872634:G>A,NM_000092.4:c.4809+100C>T,\N,\N,47/47,Benign,\N,intron_variant,3.909,0.0276,1KG_SAS_AF,COL4A4
464322,2:227872646:G>A,NM_000092.4:c.4809+88C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,2.929,\N,\N,COL4A4
464323,2:227872675:C>T,NM_000092.4:c.4809+59G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,4.731,\N,\N,COL4A4
464324,2:227872685:T>G,NM_000092.4:c.4809+49A>C,\N,\N,47/47,Unknown significance,\N,intron_variant,6.373,\N,\N,COL4A4
464325,2:227872697:G>A,NM_000092.4:c.4809+37C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,2.133,0.000120482,EVS_EA_AF,COL4A4
464326,2:227872702:T>C,NM_000092.4:c.4809+32A>G,\N,\N,47/47,Unknown significance,\N,intron_variant,1.666,0.0000632992,EXAC_SAS_AF,COL4A4
464327,2:227872711:GT>G,NM_000092.4:c.4809+22del,\N,\N,47/47,Unknown significance,\N,intron_variant,7.03,0.00011274,EXAC_AFR_AF,COL4A4
464328,2:227872711:G>T,NM_000092.4:c.4809+23C>A,\N,\N,47/47,Unknown significance,\N,intron_variant,8.232,0.00011274,EXAC_AFR_AF,COL4A4
464329,2:227872712:T>G,NM_000092.4:c.4809+22A>C,\N,\N,47/47,Unknown significance,\N,intron_variant,9.22,\N,\N,COL4A4
464330,2:227872716:C>A,NM_000092.4:c.4809+18G>T,\N,\N,47/47,Unknown significance,\N,intron_variant,4.602,0.000110914,EXAC_AFR_AF,COL4A4
464331,2:227872720:G>A,NM_000092.4:c.4809+14C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,6.401,0.0000156441,EXAC_NFE_AF,COL4A4
464332,2:227872724:C>CG,NM_000092.4:c.4809+9dup,\N,\N,47/47,Unknown significance,\N,intron_variant,2.771,0.000185966,EXAC_SAS_AF,COL4A4
464333,2:227872724:C>T,NM_000092.4:c.4809+10G>A,\N,\N,47/47,Unknown significance,\N,intron_variant,0.617,0.000109146,EXAC_AFR_AF,COL4A4
464334,2:227872725:G>A,NM_000092.4:c.4809+9C>T,\N,\N,47/47,Unknown significance,\N,intron_variant,2.28,0.0000894134,EXAC_AMR_AF,COL4A4
464335,2:227872735:A>G,NM_000092.4:c.4808T>C,NP_000083.3:p.Met1603Thr,47/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.8,0.000120773,EVS_EA_AF,COL4A4
464336,2:227872740:G>A,NM_000092.4:c.4803C>T,NP_000083.3:p.Phe1601=,47/48,\N,Unknown significance,\N,synonymous_variant,9.181,0.000478583,EXAC_EAS_AF,COL4A4
464337,2:227872749:C>T,NM_000092.4:c.4794G>A,NP_000083.3:p.Gly1598=,47/48,\N,Unknown significance,\N,synonymous_variant,11.53,0.000119303,EXAC_EAS_AF,COL4A4
464338,2:227872752:G>A,NM_000092.4:c.4791C>T,NP_000083.3:p.Ile1597=,47/48,\N,Unknown significance,\N,synonymous_variant,9.416,0.000351989,EXAC_AMR_AF,COL4A4
464339,2:227872755:C>T,NM_000092.4:c.4788G>A,NP_000083.3:p.Trp1596Ter,47/48,\N,Pathogenic,Alport syndrome,stop_gained,47,0.0000610054,EXAC_SAS_AF,COL4A4
464340,2:227872761:G>A,NM_000092.4:c.4782C>T,NP_000083.3:p.Ser1594=,47/48,\N,Unknown significance,\N,synonymous_variant,10.04,0.0000609236,EXAC_SAS_AF,COL4A4
464341,2:227872764:C>T,NM_000092.4:c.4779G>A,NP_000083.3:p.Arg1593=,47/48,\N,Unknown significance,\N,synonymous_variant,14.09,0.00154101,EXAC_EAS_AF,COL4A4
464342,2:227872766:T>G,NM_000092.4:c.4777A>C,NP_000083.3:p.Arg1593=,47/48,\N,Unknown significance,\N,synonymous_variant,6.136,\N,\N,COL4A4
464343,2:227872769:A>G,NM_000092.4:c.4774T>C,NP_000083.3:p.Trp1592Arg,47/48,\N,Unknown significance,\N,missense_variant,23.8,0.000263158,EXAC_AMR_AF,COL4A4
464344,2:227872776:C>T,NM_000092.4:c.4767G>A,NP_000083.3:p.Pro1589=,47/48,\N,Unknown significance,\N,synonymous_variant,10.77,0.0000608939,EXAC_SAS_AF,COL4A4
464345,2:227872777:G>A,NM_000092.4:c.4766C>T,NP_000083.3:p.Pro1589Leu,47/48,\N,Unknown significance,\N,missense_variant,24.4,0.000118203,EXAC_EAS_AF,COL4A4
464346,2:227872780:C>T,NM_000092.4:c.4763G>A,NP_000083.3:p.Cys1588Tyr,47/48,\N,Pathogenic,Alport syndrome,missense_variant,23.5,\N,\N,COL4A4
464347,2:227872783:G>A,NM_000092.4:c.4760C>T,NP_000083.3:p.Pro1587Leu,47/48,\N,Unknown significance,\N,missense_variant,14.6,0.000105641,EXAC_AFR_AF,COL4A4
464348,2:227872783:G>C,NM_000092.4:c.4760C>G,NP_000083.3:p.Pro1587Arg,47/48,\N,Pathogenic,Nephritis,missense_variant,0.949,0.00326323,EVS_EA_AF,COL4A4
464349,2:227872783:G>T,NM_000092.4:c.4760C>A,NP_000083.3:p.Pro1587Gln,47/48,\N,Likely benign,\N,missense_variant,9.454,0.000437828,EXAC_AMR_AF,COL4A4
464350,2:227872784:G>A,NM_000092.4:c.4759C>T,NP_000083.3:p.Pro1587Ser,47/48,\N,Likely benign,\N,missense_variant,11.48,0.0000608347,EXAC_SAS_AF,COL4A4
464351,2:227872791:GGAC>G,NM_000092.4:c.4749_4751del,NP_000083.3:p.Gln1583_Ser1584delinsHis,47/48,\N,Pathogenic,Alport syndrome,inframe_deletion,18.99,\N,\N,COL4A4
464352,2:227872795:T>A,NM_000092.4:c.4748A>T,NP_000083.3:p.Gln1583Leu,47/48,\N,Likely benign,\N,missense_variant,20.7,0.0000608273,EXAC_SAS_AF,COL4A4
464353,2:227872804:C>T,NM_000092.4:c.4739G>A,NP_000083.3:p.Ser1580Asn,47/48,\N,Unknown significance,\N,missense_variant,25.3,0.0000151851,EXAC_NFE_AF,COL4A4
464354,2:227872812:C>T,NM_000092.4:c.4731G>A,NP_000083.3:p.Ala1577=,47/48,\N,Benign,\N,synonymous_variant,17.03,0.0170279,EXAC_FIN_AF,COL4A4
464355,2:227872813:G>A,NM_000092.4:c.4730C>T,NP_000083.3:p.Ala1577Val,47/48,\N,Unknown significance,\N,missense_variant,26.5,0.000015186,EXAC_NFE_AF,COL4A4
464356,2:227872815:C>CACCGCCTGGGCCGGGGCCTCGCAT,NM_000092.4:c.4704_4727dup,NP_000083.3:p.Cys1569_Val1576dup,47/48,\N,Unknown significance,\N,inframe_insertion,18.14,\N,\N,COL4A4
464357,2:227872819:G>A,NM_000092.4:c.4724C>T,NP_000083.3:p.Ala1575Val,47/48,\N,Unknown significance,\N,missense_variant,25.3,0.002,1KG_EAS_AF,COL4A4
464358,2:227872819:G>T,NM_000092.4:c.4724C>A,NP_000083.3:p.Ala1575Glu,47/48,\N,Unknown significance,\N,missense_variant,25,0.0000151653,EXAC_NFE_AF,COL4A4
464359,2:227872825:G>A,NM_000092.4:c.4718C>T,NP_000083.3:p.Ala1573Val,47/48,\N,Unknown significance,\N,missense_variant,24.5,0.0000870625,EXAC_AMR_AF,COL4A4
464360,2:227872827:C>T,NM_000092.4:c.4716G>A,NP_000083.3:p.Pro1572=,47/48,\N,Unknown significance,\N,synonymous_variant,13.16,0.000233645,EXAC_EAS_AF,COL4A4
464361,2:227872828:G>A,NM_000092.4:c.4715C>T,NP_000083.3:p.Pro1572Leu,47/48,\N,Pathogenic,Alport syndrome,missense_variant,25.2,0.0029,1KG_AMR_AF,COL4A4
464362,2:227872835:C>T,NM_000092.4:c.4708G>A,NP_000083.3:p.Glu1570Lys,47/48,\N,Unknown significance,\N,missense_variant,25.8,0.000121566,EXAC_SAS_AF,COL4A4
464363,2:227872836:G>A,NM_000092.4:c.4707C>T,NP_000083.3:p.Cys1569=,47/48,\N,Unknown significance,\N,synonymous_variant,5.198,0.00001513,EXAC_NFE_AF,COL4A4
464364,2:227872837:C>A,NM_000092.4:c.4706G>T,NP_000083.3:p.Cys1569Phe,47/48,\N,Unknown significance,\N,missense_variant,24.3,0.000249252,EVS_AA_AF,COL4A4
464365,2:227872842:C>T,NM_000092.4:c.4701G>A,NP_000083.3:p.Ala1567=,47/48,\N,Unknown significance,\N,synonymous_variant,10.92,0.000248262,EVS_AA_AF,COL4A4
464366,2:227872843:G>A,NM_000092.4:c.4700C>T,NP_000083.3:p.Ala1567Val,47/48,\N,Unknown significance,\N,missense_variant,16.55,0.000116171,EXAC_EAS_AF,COL4A4
464367,2:227872844:CA>C,NM_000092.4:c.4698del,NP_000083.3:p.Cys1566TrpfsTer37,47/48,\N,Pathogenic,Alport syndrome,frameshift_variant,25.3,0.0000151199,EXAC_NFE_AF,COL4A4
464368,2:227872849:C>T,NM_000092.4:c.4694G>A,NP_000083.3:p.Arg1565His,47/48,\N,Unknown significance,\N,missense_variant,25.7,0.00011976,EVS_EA_AF,COL4A4
464369,2:227872850:G>A,NM_000092.4:c.4693C>T,NP_000083.3:p.Arg1565Cys,47/48,\N,Pathogenic,Alport syndrome,missense_variant,24.8,0.00011976,EVS_EA_AF,COL4A4
464370,2:227872862:G>A,NM_000092.4:c.4681C>T,NP_000083.3:p.Pro1561Ser,47/48,\N,Likely benign,\N,missense_variant,18.65,0.00010305,EXAC_AFR_AF,COL4A4
464371,2:227872864:C>T,NM_000092.4:c.4679G>A,NP_000083.3:p.Arg1560His,47/48,\N,Likely benign,\N,missense_variant,24.1,0.000182304,EXAC_SAS_AF,COL4A4
464372,2:227872865:G>A,NM_000092.4:c.4678C>T,NP_000083.3:p.Arg1560Cys,47/48,\N,Unknown significance,\N,missense_variant,23.5,0.000121403,EXAC_SAS_AF,COL4A4
464373,2:227872869:C>T,NM_000092.4:c.4674G>A,NP_000083.3:p.Ala1558=,47/48,\N,Unknown significance,\N,synonymous_variant,12.02,0.000801694,EXAC_NFE_AF,COL4A4
464374,2:227872870:G>A,NM_000092.4:c.4673C>T,NP_000083.3:p.Ala1558Val,47/48,\N,Likely benign,\N,missense_variant,17.31,0.000303435,EXAC_SAS_AF,COL4A4
464375,2:227872875:T>C,NM_000092.4:c.4668A>G,NP_000083.3:p.Glu1556=,47/48,\N,Unknown significance,\N,synonymous_variant,0.01,0.000232288,EXAC_EAS_AF,COL4A4
464376,2:227872877:CAG>C,NM_000092.4:c.4664_4665del,NP_000083.3:p.Ser1555Ter,47/48,\N,Unknown significance,\N,frameshift_variant,33,0.0000151194,EXAC_NFE_AF,COL4A4
464377,2:227872886:GCA>G,NM_000092.4:c.4655_4656del,NP_000083.3:p.Met1552ThrfsTer4,47/48,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,COL4A4
464378,2:227872887:C>T,NM_000092.4:c.4656G>A,NP_000083.3:p.Met1552Ile,47/48,\N,Benign,\N,missense_variant,22.7,0.059,1KG_AFR_AF,COL4A4
464379,2:227872889:T>TGG,NM_000092.4:c.4653_4654insCC,NP_000083.3:p.Met1552ProfsTer52,47/48,\N,Unknown significance,\N,frameshift_variant,35,0.0000151162,EXAC_NFE_AF,COL4A4
464380,2:227872893:G>T,NM_000092.4:c.4650C>A,NP_000083.3:p.Pro1550=,47/48,\N,Unknown significance,\N,synonymous_variant,0.302,0.0000151162,EXAC_NFE_AF,COL4A4
464381,2:227872896:GA>G,NM_000092.4:c.4646del,NP_000083.3:p.Leu1549ProfsTer3,47/48,\N,Pathogenic,Alport syndrome,frameshift_variant,\N,\N,\N,COL4A4
464382,2:227872898:G>A,NM_000092.4:c.4645C>T,NP_000083.3:p.Leu1549Phe,47/48,\N,Unknown significance,\N,missense_variant,17.23,0.0000151226,EXAC_NFE_AF,COL4A4
464383,2:227872899:G>A,NM_000092.4:c.4644C>T,NP_000083.3:p.Pro1548=,47/48,\N,Unknown significance,\N,synonymous_variant,2.487,0.0000151185,EXAC_NFE_AF,COL4A4
464384,2:227872900:G>A,NM_000092.4:c.4643C>T,NP_000083.3:p.Pro1548Leu,47/48,\N,Unknown significance,\N,missense_variant,23.7,0.0000151176,EXAC_NFE_AF,COL4A4
464385,2:227872902:C>T,NM_000092.4:c.4641G>A,NP_000083.3:p.Ala1547=,47/48,\N,Unknown significance,\N,synonymous_variant,13.25,0.000121271,EXAC_SAS_AF,COL4A4
464386,2:227872903:G>A,NM_000092.4:c.4640C>T,NP_000083.3:p.Ala1547Val,47/48,\N,Unknown significance,\N,missense_variant,24.5,0.0000453775,EXAC_NFE_AF,COL4A4
464387,2:227872907:C>T,NM_000092.4:c.4636G>A,NP_000083.3:p.Ala1546Thr,47/48,\N,Unknown significance,\N,missense_variant,13.19,0.000118765,EVS_EA_AF,COL4A4
464388,2:227872908:G>A,NM_000092.4:c.4635C>T,NP_000083.3:p.Ser1545=,47/48,\N,Unknown significance,\N,synonymous_variant,7.376,0.0008,1KG_AFR_AF,COL4A4
464389,2:227872913:C>T,NM_000092.4:c.4630G>A,NP_000083.3:p.Ala1544Thr,47/48,\N,Unknown significance,\N,missense_variant,24.9,0.0000606355,EXAC_SAS_AF,COL4A4
464390,2:227872931:C>T,NM_000092.4:c.4612G>A,NP_000083.3:p.Asp1538Asn,47/48,\N,Unknown significance,\N,missense_variant,28.2,0.000235294,EVS_AA_AF,COL4A4
464391,2:227872944:A>G,NM_000092.4:c.4599T>C,NP_000083.3:p.Tyr1533=,47/48,\N,Unknown significance,\N,synonymous_variant,0.226,0.000234852,EVS_AA_AF,COL4A4
464392,2:227872944:A>C,NM_000092.4:c.4599T>G,NP_000083.3:p.Tyr1533Ter,47/48,\N,Pathogenic,Alport syndrome,stop_gained,36,\N,\N,COL4A4
464393,2:227872948:T>C,NM_000092.4:c.4595A>G,NP_000083.3:p.His1532Arg,47/48,\N,Unknown significance,\N,missense_variant,22.7,0.0000150893,EXAC_NFE_AF,COL4A4
464394,2:227872953:C>T,NM_000092.4:c.4590G>A,NP_000083.3:p.Val1530=,47/48,\N,Unknown significance,\N,synonymous_variant,14.16,0.0015,1KG_AFR_AF,COL4A4
464395,2:227872959:G>A,NM_000092.4:c.4584C>T,NP_000083.3:p.His1528=,47/48,\N,Unknown significance,\N,synonymous_variant,7.013,\N,\N,COL4A4
464396,2:227872965:G>A,NM_000092.4:c.4578C>T,NP_000083.3:p.Asn1526=,47/48,\N,Unknown significance,\N,synonymous_variant,8.85,0.000778143,EXAC_AMR_AF,COL4A4
464397,2:227872986:C>T,NM_000092.4:c.4557G>A,NP_000083.3:p.Thr1519=,47/48,\N,Unknown significance,\N,synonymous_variant,12.39,0.0000605767,EXAC_SAS_AF,COL4A4
464398,2:227872987:G>A,NM_000092.4:c.4556C>T,NP_000083.3:p.Thr1519Met,47/48,\N,Unknown significance,\N,missense_variant,24.9,0.0000452735,EXAC_NFE_AF,COL4A4
464399,2:227872995:T>C,NM_000092.4:c.4548A>G,NP_000083.3:p.Val1516=,47/48,\N,Benign,\N,synonymous_variant,4.281,0.7761,1KG_AFR_AF,COL4A4
464400,2:227872996:A>G,NM_000092.4:c.4547T>C,NP_000083.3:p.Val1516Ala,47/48,\N,Likely benign,\N,missense_variant,14.29,0.0000606061,EXAC_SAS_AF,COL4A4
464401,2:227872997:C>T,NM_000092.4:c.4546G>A,NP_000083.3:p.Val1516Ile,47/48,\N,Likely benign,\N,missense_variant,12.12,0.001,1KG_SAS_AF,COL4A4
464402,2:227872998:G>A,NM_000092.4:c.4545C>T,NP_000083.3:p.Pro1515=,47/48,\N,Unknown significance,\N,synonymous_variant,12.17,0.000120769,EXAC_NFE_AF,COL4A4
464403,2:227873004:G>T,NM_000092.4:c.4539C>A,NP_000083.3:p.Cys1513Ter,47/48,\N,Pathogenic,Alport syndrome,stop_gained,46,\N,\N,COL4A4
464404,2:227873005:C>T,NM_000092.4:c.4538G>A,NP_000083.3:p.Cys1513Tyr,47/48,\N,Pathogenic,Alport syndrome,missense_variant,25.6,\N,\N,COL4A4
464405,2:227873007:A>G,NM_000092.4:c.4536T>C,NP_000083.3:p.Ser1512=,47/48,\N,Unknown significance,\N,synonymous_variant,7.131,0.0000151025,EXAC_NFE_AF,COL4A4
464406,2:227873015:C>T,NM_000092.4:c.4528G>A,NP_000083.3:p.Ala1510Thr,47/48,\N,Unknown significance,\N,missense_variant,25,\N,\N,COL4A4
464407,2:227873018:G>A,NM_000092.4:c.4525C>T,NP_000083.3:p.Leu1509=,47/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.4,0.0000453282,EXAC_NFE_AF,COL4A4
464408,2:227873024:G>T,NM_000092.4:c.4523-4C>A,\N,\N,46/47,Unknown significance,\N,splice_region_variant&intron_variant,7.086,0.000232019,EXAC_EAS_AF,COL4A4
464409,2:227873028:A>G,NM_000092.4:c.4523-8T>C,\N,\N,46/47,Benign,\N,splice_region_variant&intron_variant,0.824,0.6407,1KG_AFR_AF,COL4A4
464410,2:227873030:G>T,NM_000092.4:c.4523-10C>A,\N,\N,46/47,Unknown significance,\N,intron_variant,2.611,0.000484496,EVS_AA_AF,COL4A4
464411,2:227873034:G>A,NM_000092.4:c.4523-14C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.087,0.0000616523,EXAC_SAS_AF,COL4A4
464412,2:227873045:T>C,NM_000092.4:c.4523-25A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,2.884,0.00035344,EXAC_EAS_AF,COL4A4
464413,2:227873051:C>G,NM_000092.4:c.4523-31G>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.449,0.0000306551,EXAC_NFE_AF,COL4A4
464414,2:227873051:C>T,NM_000092.4:c.4523-31G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.738,0.0000153275,EXAC_NFE_AF,COL4A4
464415,2:227873052:C>A,NM_000092.4:c.4523-32G>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.06,0.0000766895,EXAC_NFE_AF,COL4A4
464416,2:227873054:A>G,NM_000092.4:c.4523-34T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,5.608,0.000267762,EXAC_AMR_AF,COL4A4
464417,2:227873057:A>T,NM_000092.4:c.4523-37T>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.958,\N,\N,COL4A4
464418,2:227873058:C>A,NM_000092.4:c.4523-38G>T,\N,\N,46/47,Unknown significance,\N,intron_variant,4.317,0.000982801,EVS_AA_AF,COL4A4
464419,2:227873058:C>G,NM_000092.4:c.4523-38G>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.827,\N,\N,COL4A4
464420,2:227873061:C>T,NM_000092.4:c.4523-41G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,2.539,0.000125094,EXAC_SAS_AF,COL4A4
464421,2:227873063:T>A,NM_000092.4:c.4523-43A>T,\N,\N,46/47,Unknown significance,\N,intron_variant,7.889,0.000179791,EXAC_AMR_AF,COL4A4
464422,2:227873063:T>C,NM_000092.4:c.4523-43A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,5.238,0.000476531,EXAC_EAS_AF,COL4A4
464423,2:227873068:G>A,NM_000092.4:c.4523-48C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,6.465,0.0000909753,EXAC_AMR_AF,COL4A4
464424,2:227873068:G>T,NM_000092.4:c.4523-48C>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.483,0.000125945,EXAC_SAS_AF,COL4A4
464425,2:227873073:C>G,NM_000092.4:c.4523-53G>C,\N,\N,46/47,Unknown significance,\N,intron_variant,3.869,\N,\N,COL4A4
464426,2:227873084:C>A,NM_000092.4:c.4523-64G>T,\N,\N,46/47,Unknown significance,\N,intron_variant,4.479,\N,\N,COL4A4
464427,2:227873111:C>T,NM_000092.4:c.4523-91G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,1.77,\N,\N,COL4A4
464428,2:227873112:G>A,NM_000092.4:c.4523-92C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.104,0.001,1KG_EUR_AF,COL4A4
464429,2:227873136:G>A,NM_000092.4:c.4523-116C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,8.623,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
464430,2:227873146:G>T,NM_000092.4:c.4523-126C>A,\N,\N,46/47,Unknown significance,\N,intron_variant,1.981,0.0008,1KG_AFR_AF,COL4A4
464431,2:227873177:C>T,NM_000092.4:c.4523-157G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,4.62,\N,\N,COL4A4
464432,2:227873180:C>A,NM_000092.4:c.4523-160G>T,\N,\N,46/47,Unknown significance,\N,intron_variant,4.536,0.0015,1KG_AFR_AF,COL4A4
464433,2:227873198:C>T,NM_000092.4:c.4523-178G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,11.56,0.0014,1KG_AMR_AF,COL4A4
464434,2:227873202:C>T,NM_000092.4:c.4523-182G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,9.862,\N,\N,COL4A4
464435,2:227873221:C>G,NM_000092.4:c.4523-201G>C,\N,\N,46/47,Benign,\N,intron_variant,3.245,0.0069,1KG_EAS_AF,COL4A4
464436,2:227873228:A>G,NM_000092.4:c.4523-208T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,6.949,0.001,1KG_EAS_AF,COL4A4
464437,2:227873244:C>T,NM_000092.4:c.4523-224G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.791,0.002,1KG_EAS_AF,COL4A4
464438,2:227873246:G>A,NM_000092.4:c.4523-226C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,4.754,\N,\N,COL4A4
464439,2:227873351:T>G,NM_000092.4:c.4523-331A>C,\N,\N,46/47,Benign,\N,intron_variant,2.321,0.0338,1KG_EUR_AF,COL4A4
464440,2:227873368:C>T,NM_000092.4:c.4523-348G>A,\N,\N,46/47,Benign,\N,intron_variant,0.134,0.0109,1KG_EAS_AF,COL4A4
464441,2:227873381:A>G,NM_000092.4:c.4523-361T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,8.407,\N,\N,COL4A4
464442,2:227873452:G>A,NM_000092.4:c.4523-432C>T,\N,\N,46/47,Benign,\N,intron_variant,3.039,0.0212,1KG_AFR_AF,COL4A4
464443,2:227873460:T>G,NM_000092.4:c.4523-440A>C,\N,\N,46/47,Benign,\N,intron_variant,2.35,0.0476,1KG_EAS_AF,COL4A4
464444,2:227873510:G>A,NM_000092.4:c.4523-490C>T,\N,\N,46/47,Benign,\N,intron_variant,1.673,0.1566,1KG_AFR_AF,COL4A4
464445,2:227873539:G>A,NM_000092.4:c.4523-519C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.08,0.0023,1KG_AFR_AF,COL4A4
464446,2:227873563:G>A,NM_000092.4:c.4523-543C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,6.004,\N,\N,COL4A4
464447,2:227873568:C>T,NM_000092.4:c.4523-548G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,2.425,0.0008,1KG_AFR_AF,COL4A4
464448,2:227873627:A>G,NM_000092.4:c.4523-607T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,3.747,0.0014,1KG_AMR_AF,COL4A4
464449,2:227873632:G>A,NM_000092.4:c.4523-612C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.11,\N,\N,COL4A4
464450,2:227873644:G>A,NM_000092.4:c.4523-624C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,5.946,\N,\N,COL4A4
464451,2:227873655:CAA>C,NM_000092.4:c.4523-637_4523-636del,\N,\N,46/47,Unknown significance,\N,intron_variant,11.33,\N,\N,COL4A4
464452,2:227873670:G>A,NM_000092.4:c.4523-650C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,5.225,\N,\N,COL4A4
464453,2:227873685:C>T,NM_000092.4:c.4523-665G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,5.389,\N,\N,COL4A4
464454,2:227873687:C>T,NM_000092.4:c.4523-667G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.864,\N,\N,COL4A4
464455,2:227873696:C>A,NM_000092.4:c.4523-676G>T,\N,\N,46/47,Unknown significance,\N,intron_variant,2.94,\N,\N,COL4A4
464456,2:227873717:G>A,NM_000092.4:c.4523-697C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,2.773,0.002,1KG_EUR_AF,COL4A4
464457,2:227873740:A>T,NM_000092.4:c.4523-720T>A,\N,\N,46/47,Unknown significance,\N,intron_variant,6.369,\N,\N,COL4A4
464458,2:227873756:G>A,NM_000092.4:c.4523-736C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.972,0.0008,1KG_AFR_AF,COL4A4
464459,2:227873759:G>A,NM_000092.4:c.4523-739C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,9.289,\N,\N,COL4A4
464460,2:227873761:G>GGGAGAGAA,NM_000092.4:c.4523-749_4523-742dup,\N,\N,46/47,Unknown significance,\N,intron_variant,7.776,0.002,1KG_EUR_AF,COL4A4
464461,2:227873883:G>A,NM_000092.4:c.4523-863C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.892,\N,\N,COL4A4
464462,2:227873927:G>A,NM_000092.4:c.4523-907C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.951,\N,\N,COL4A4
464463,2:227873950:G>A,NM_000092.4:c.4523-930C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,2.644,0.0023,1KG_AFR_AF,COL4A4
464464,2:227873950:G>T,NM_000092.4:c.4523-930C>A,\N,\N,46/47,Unknown significance,\N,intron_variant,0.958,0.0015,1KG_AFR_AF,COL4A4
464465,2:227873968:C>T,NM_000092.4:c.4523-948G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,2.889,0.001,1KG_EUR_AF,COL4A4
464466,2:227873986:C>T,NM_000092.4:c.4523-966G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,0.424,0.0008,1KG_AFR_AF,COL4A4
464467,2:227874053:C>T,NM_000092.4:c.4522+976G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,5.288,0.0014,1KG_AMR_AF,COL4A4
464468,2:227874056:T>C,NM_000092.4:c.4522+973A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,3.276,0.001,1KG_SAS_AF,COL4A4
464469,2:227874070:C>T,NM_000092.4:c.4522+959G>A,\N,\N,46/47,Benign,\N,intron_variant,3.926,0.0218,1KG_EAS_AF,COL4A4
464470,2:227874076:C>T,NM_000092.4:c.4522+953G>A,\N,\N,46/47,Benign,\N,intron_variant,2.051,0.005,1KG_EAS_AF,COL4A4
464471,2:227874108:C>T,NM_000092.4:c.4522+921G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.539,0.0008,1KG_AFR_AF,COL4A4
464472,2:227874122:A>G,NM_000092.4:c.4522+907T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.331,\N,\N,COL4A4
464473,2:227874190:C>T,NM_000092.4:c.4522+839G>A,\N,\N,46/47,Benign,\N,intron_variant,5.441,0.0091,1KG_AFR_AF,COL4A4
464474,2:227874191:G>A,NM_000092.4:c.4522+838C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,6.58,\N,\N,COL4A4
464475,2:227874211:G>A,NM_000092.4:c.4522+818C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,0.595,\N,\N,COL4A4
464476,2:227874214:A>G,NM_000092.4:c.4522+815T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,0.512,\N,\N,COL4A4
464477,2:227874226:C>G,NM_000092.4:c.4522+803G>C,\N,\N,46/47,Unknown significance,\N,intron_variant,1.813,\N,\N,COL4A4
464478,2:227874232:C>T,NM_000092.4:c.4522+797G>A,\N,\N,46/47,Benign,\N,intron_variant,0.922,0.593,1KG_SAS_AF,COL4A4
464479,2:227874233:G>A,NM_000092.4:c.4522+796C>T,\N,\N,46/47,Benign,\N,intron_variant,1.67,0.0053,1KG_AFR_AF,COL4A4
464480,2:227874257:T>C,NM_000092.4:c.4522+772A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,7.209,\N,\N,COL4A4
464481,2:227874280:G>A,NM_000092.4:c.4522+749C>T,\N,\N,46/47,Benign,\N,intron_variant,5.591,0.0091,1KG_AFR_AF,COL4A4
464482,2:227874297:T>C,NM_000092.4:c.4522+732A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,5.026,0.001,1KG_EUR_AF,COL4A4
464483,2:227874311:G>A,NM_000092.4:c.4522+718C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,3.28,\N,\N,COL4A4
464484,2:227874328:C>T,NM_000092.4:c.4522+701G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,2.075,0.0008,1KG_AFR_AF,COL4A4
464485,2:227874333:G>A,NM_000092.4:c.4522+696C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.17,\N,\N,COL4A4
464486,2:227874341:G>A,NM_000092.4:c.4522+688C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.191,0.0008,1KG_AFR_AF,COL4A4
464487,2:227874413:C>CA,NM_000092.4:c.4522+615dup,\N,\N,46/47,Unknown significance,\N,intron_variant,9.107,\N,\N,COL4A4
464488,2:227874429:GGAAAAGAGAAGAGAAGA>G,NM_000092.4:c.4522+583_4522+599del,\N,\N,46/47,Unknown significance,\N,intron_variant,1.238,\N,\N,COL4A4
464489,2:227874449:A>G,NM_000092.4:c.4522+580T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,0.252,\N,\N,COL4A4
464490,2:227874491:A>T,NM_000092.4:c.4522+538T>A,\N,\N,46/47,Unknown significance,\N,intron_variant,1.43,\N,\N,COL4A4
464491,2:227874510:C>T,NM_000092.4:c.4522+519G>A,\N,\N,46/47,Benign,\N,intron_variant,0.916,0.0053,1KG_AFR_AF,COL4A4
464492,2:227874511:G>A,NM_000092.4:c.4522+518C>T,\N,\N,46/47,Benign,\N,intron_variant,1.195,0.0082,1KG_SAS_AF,COL4A4
464493,2:227874517:C>T,NM_000092.4:c.4522+512G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,0.789,0.0023,1KG_AFR_AF,COL4A4
464494,2:227874518:G>A,NM_000092.4:c.4522+511C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,0.168,0.0008,1KG_AFR_AF,COL4A4
464495,2:227874541:A>C,NM_000092.4:c.4522+488T>G,\N,\N,46/47,Unknown significance,\N,intron_variant,0.805,\N,\N,COL4A4
464496,2:227874600:C>G,NM_000092.4:c.4522+429G>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.565,0.001,1KG_EUR_AF,COL4A4
464497,2:227874612:G>A,NM_000092.4:c.4522+417C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,0.525,\N,\N,COL4A4
464498,2:227874617:A>G,NM_000092.4:c.4522+412T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,0.911,\N,\N,COL4A4
464499,2:227874641:C>T,NM_000092.4:c.4522+388G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.168,0.0014,1KG_AMR_AF,COL4A4
464500,2:227874689:AC>A,NM_000092.4:c.4522+339del,\N,\N,46/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464501,2:227874740:G>A,NM_000092.4:c.4522+289C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,4.943,0.0015,1KG_AFR_AF,COL4A4
464502,2:227874788:GATA>G,NM_000092.4:c.4522+238_4522+240del,\N,\N,46/47,Benign,\N,intron_variant,9.742,0.0098,1KG_AFR_AF,COL4A4
464503,2:227874798:ATATACT>A,NM_000092.4:c.4522+225_4522+230del,\N,\N,46/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464504,2:227874806:A>G,NM_000092.4:c.4522+223T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,11.71,\N,\N,COL4A4
464505,2:227874823:A>G,NM_000092.4:c.4522+206T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.075,0.0031,1KG_SAS_AF,COL4A4
464506,2:227874830:C>T,NM_000092.4:c.4522+199G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,12.9,\N,\N,COL4A4
464507,2:227874842:T>G,NM_000092.4:c.4522+187A>C,\N,\N,46/47,Benign,\N,intron_variant,10.51,0.0091,1KG_AFR_AF,COL4A4
464508,2:227874855:A>G,NM_000092.4:c.4522+174T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,1.837,0.0008,1KG_AFR_AF,COL4A4
464509,2:227874870:T>G,NM_000092.4:c.4522+159A>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.99,\N,\N,COL4A4
464510,2:227874902:T>C,NM_000092.4:c.4522+127A>G,\N,\N,46/47,Benign,\N,intron_variant,1.369,0.0076,1KG_AFR_AF,COL4A4
464511,2:227874920:G>T,NM_000092.4:c.4522+109C>A,\N,\N,46/47,Unknown significance,\N,intron_variant,1.822,0.001,1KG_EAS_AF,COL4A4
464512,2:227874930:A>T,NM_000092.4:c.4522+99T>A,\N,\N,46/47,Unknown significance,\N,intron_variant,1.658,0.001,1KG_EAS_AF,COL4A4
464513,2:227874931:T>C,NM_000092.4:c.4522+98A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,1.509,\N,\N,COL4A4
464514,2:227874957:C>T,NM_000092.4:c.4522+72G>A,\N,\N,46/47,Benign,\N,intron_variant,5.638,0.6407,1KG_AFR_AF,COL4A4
464515,2:227874982:A>G,NM_000092.4:c.4522+47T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.674,\N,\N,COL4A4
464516,2:227874987:T>C,NM_000092.4:c.4522+42A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,4.295,0.0000149835,EXAC_NFE_AF,COL4A4
464517,2:227874990:C>T,NM_000092.4:c.4522+39G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,3.926,0.000134852,EXAC_NFE_AF,COL4A4
464518,2:227874991:T>G,NM_000092.4:c.4522+38A>C,\N,\N,46/47,Unknown significance,\N,intron_variant,3.773,0.000060562,EXAC_SAS_AF,COL4A4
464519,2:227874993:T>C,NM_000092.4:c.4522+36A>G,\N,\N,46/47,Unknown significance,\N,intron_variant,2.398,0.0000149835,EXAC_NFE_AF,COL4A4
464520,2:227875001:A>G,NM_000092.4:c.4522+28T>C,\N,\N,46/47,Unknown significance,\N,intron_variant,2.368,0.000181686,EXAC_SAS_AF,COL4A4
464521,2:227875004:G>A,NM_000092.4:c.4522+25C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,0.608,0.000121892,EVS_EA_AF,COL4A4
464522,2:227875012:C>T,NM_000092.4:c.4522+17G>A,\N,\N,46/47,Unknown significance,\N,intron_variant,0.552,0.000121124,EXAC_SAS_AF,COL4A4
464523,2:227875013:G>A,NM_000092.4:c.4522+16C>T,\N,\N,46/47,Unknown significance,\N,intron_variant,0.962,0.0000149835,EXAC_NFE_AF,COL4A4
464524,2:227875015:T>A,NM_000092.4:c.4522+14A>T,\N,\N,46/47,Unknown significance,\N,intron_variant,1.664,0.0000449506,EXAC_NFE_AF,COL4A4
464525,2:227875023:C>T,NM_000092.4:c.4522+6G>A,\N,\N,46/47,Unknown significance,\N,splice_region_variant&intron_variant,4.788,0.000347786,EXAC_EAS_AF,COL4A4
464526,2:227875029:C>T,NM_000092.4:c.4522G>A,NP_000083.3:p.Gly1508Ser,46/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,23.7,\N,\N,COL4A4
464527,2:227875038:G>C,NM_000092.4:c.4513C>G,NP_000083.3:p.Gln1505Glu,46/48,\N,Unknown significance,\N,missense_variant,23.8,0.0000449519,EXAC_NFE_AF,COL4A4
464528,2:227875041:T>A,NM_000092.4:c.4510A>T,NP_000083.3:p.Asn1504Tyr,46/48,\N,Unknown significance,\N,missense_variant,24.9,0.000060562,EXAC_SAS_AF,COL4A4
464529,2:227875041:T>C,NM_000092.4:c.4510A>G,NP_000083.3:p.Asn1504Asp,46/48,\N,Unknown significance,\N,missense_variant,24,0.000777471,EXAC_AMR_AF,COL4A4
464530,2:227875054:T>C,NM_000092.4:c.4497A>G,NP_000083.3:p.Gln1499=,46/48,\N,Unknown significance,\N,synonymous_variant,0.182,0.000060562,EXAC_SAS_AF,COL4A4
464531,2:227875056:G>C,NM_000092.4:c.4495C>G,NP_000083.3:p.Gln1499Glu,46/48,\N,Unknown significance,\N,missense_variant,23.2,0.000060562,EXAC_SAS_AF,COL4A4
464532,2:227875056:GC>G,NM_000092.4:c.4494del,NP_000083.3:p.Gln1499LysfsTer53,46/48,\N,Pathogenic,Alport syndrome,frameshift_variant,24.1,\N,\N,COL4A4
464533,2:227875071:A>G,NM_000092.4:c.4480T>C,NP_000083.3:p.Leu1494=,46/48,\N,Unknown significance,\N,synonymous_variant,4.224,0.001,1KG_SAS_AF,COL4A4
464534,2:227875080:A>G,NM_000092.4:c.4471T>C,NP_000083.3:p.Tyr1491His,46/48,\N,Unknown significance,\N,missense_variant,23.6,0.00010202,EXAC_AFR_AF,COL4A4
464535,2:227875082:C>G,NM_000092.4:c.4469G>C,NP_000083.3:p.Gly1490Ala,46/48,\N,Pathogenic,Alport syndrome,missense_variant,23.4,\N,\N,COL4A4
464536,2:227875088:C>G,NM_000092.4:c.4463G>C,NP_000083.3:p.Trp1488Ser,46/48,\N,Unknown significance,\N,missense_variant,26.2,0.00111111,EXAC_OTH_AF,COL4A4
464537,2:227875092:G>A,NM_000092.4:c.4459C>T,NP_000083.3:p.Leu1487Phe,46/48,\N,Unknown significance,\N,missense_variant,24.2,0.0000149916,EXAC_NFE_AF,COL4A4
464538,2:227875100:A>ATG,NM_000092.4:c.4449_4450dup,NP_000083.3:p.Met1484ThrfsTer69,46/48,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,COL4A4
464539,2:227875105:C>T,NM_000092.4:c.4446G>A,NP_000083.3:p.Leu1482=,46/48,\N,Unknown significance,\N,synonymous_variant,12.81,0.000060584,EXAC_SAS_AF,COL4A4
464540,2:227875106:A>AG,NM_000092.4:c.4444dup,NP_000083.3:p.Leu1482ProfsTer11,46/48,\N,Pathogenic,Alport syndrome,frameshift_variant,24,\N,\N,COL4A4
464541,2:227875106:A>G,NM_000092.4:c.4445T>C,NP_000083.3:p.Leu1482Pro,46/48,\N,Likely benign,\N,missense_variant,11.54,\N,\N,COL4A4
464542,2:227875106:AG>A,NM_000092.4:c.4444del,NP_000083.3:p.Leu1482TrpfsTer70,46/48,\N,Pathogenic,Alport syndrome,frameshift_variant,23,\N,\N,COL4A4
464543,2:227875108:G>A,NM_000092.4:c.4443C>T,NP_000083.3:p.Pro1481=,46/48,\N,Unknown significance,\N,synonymous_variant,9.81,0.000060584,EXAC_SAS_AF,COL4A4
464544,2:227875108:G>C,NM_000092.4:c.4443C>G,NP_000083.3:p.Pro1481=,46/48,\N,Unknown significance,\N,synonymous_variant,5.985,0.000116009,EXAC_EAS_AF,COL4A4
464545,2:227875111:G>A,NM_000092.4:c.4440C>T,NP_000083.3:p.Cys1480=,46/48,\N,Unknown significance,\N,synonymous_variant,10.22,0.000060584,EXAC_SAS_AF,COL4A4
464546,2:227875118:G>A,NM_000092.4:c.4433C>T,NP_000083.3:p.Pro1478Leu,46/48,\N,Unknown significance,\N,missense_variant,25.3,0.00011609,EXAC_EAS_AF,COL4A4
464547,2:227875128:C>A,NM_000092.4:c.4423G>T,NP_000083.3:p.Asp1475Tyr,46/48,\N,Pathogenic,Benign haematuria,missense_variant,24.5,0.000116333,EXAC_EAS_AF,COL4A4
464548,2:227875129:C>T,NM_000092.4:c.4422G>A,NP_000083.3:p.Thr1474=,46/48,\N,Unknown significance,\N,synonymous_variant,17.69,0.000121389,EXAC_SAS_AF,COL4A4
464549,2:227875130:G>A,NM_000092.4:c.4421C>T,NP_000083.3:p.Thr1474Met,46/48,\N,Unknown significance,\N,missense_variant,25.5,0.002,1KG_EAS_AF,COL4A4
464550,2:227875134:G>T,NM_000092.4:c.4417C>A,NP_000083.3:p.Gln1473Lys,46/48,\N,Unknown significance,\N,missense_variant,25,0.0000452325,EXAC_NFE_AF,COL4A4
464551,2:227875139:T>G,NM_000092.4:c.4412A>C,NP_000083.3:p.His1471Pro,46/48,\N,Unknown significance,\N,missense_variant,24.3,\N,\N,COL4A4
464552,2:227875139:TG>T,NM_000092.4:c.4411del,NP_000083.3:p.His1471ThrfsTer81,46/48,\N,Unknown significance,\N,frameshift_variant,36,0.0000609905,EXAC_SAS_AF,COL4A4
464553,2:227875140:G>A,NM_000092.4:c.4411C>T,NP_000083.3:p.His1471Tyr,46/48,\N,Unknown significance,\N,missense_variant,24.8,\N,\N,COL4A4
464554,2:227875153:G>A,NM_000092.4:c.4398C>T,NP_000083.3:p.Phe1466=,46/48,\N,Unknown significance,\N,synonymous_variant,12.07,0.001,1KG_SAS_AF,COL4A4
464555,2:227875157:C>T,NM_000092.4:c.4394G>A,NP_000083.3:p.Gly1465Asp,46/48,\N,Pathogenic,Alport syndrome,missense_variant,25.3,0.000504923,EXAC_SAS_AF,COL4A4
464556,2:227875159:A>C,NM_000092.4:c.4392T>G,NP_000083.3:p.Gly1464=,46/48,\N,Unknown significance,\N,synonymous_variant,5.115,\N,\N,COL4A4
464557,2:227875161:C>T,NM_000092.4:c.4390G>A,NP_000083.3:p.Gly1464Ser,46/48,\N,Likely benign,\N,missense_variant,12.93,0.001,1KG_EAS_AF,COL4A4
464558,2:227875162:G>A,NM_000092.4:c.4389C>T,NP_000083.3:p.Leu1463=,46/48,\N,Unknown significance,\N,synonymous_variant,9.513,0.0000158023,EXAC_NFE_AF,COL4A4
464559,2:227875166:T>C,NM_000092.4:c.4385A>G,NP_000083.3:p.Tyr1462Cys,46/48,\N,Likely benign,\N,missense_variant,17.04,0.0000159403,EXAC_NFE_AF,COL4A4
464560,2:227875175:C>A,NM_000092.4:c.4376G>T,NP_000083.3:p.Gly1459Val,46/48,\N,Pathogenic,Alport syndrome,missense_variant,19.04,\N,\N,COL4A4
464561,2:227875182:C>G,NM_000092.4:c.4369G>C,NP_000083.3:p.Gly1457Arg,46/48,\N,Unknown significance,\N,missense_variant,24,0.0000993641,EXAC_AMR_AF,COL4A4
464562,2:227875184:T>C,NM_000092.4:c.4367A>G,NP_000083.3:p.Lys1456Arg,46/48,\N,Likely benign,\N,missense_variant,12.78,0.000017449,EXAC_NFE_AF,COL4A4
464563,2:227875201:A>G,NM_000092.4:c.4350T>C,NP_000083.3:p.Ile1450=,46/48,\N,Unknown significance,\N,synonymous_variant,0.119,0.000154416,EXAC_EAS_AF,COL4A4
464564,2:227875202:A>G,NM_000092.4:c.4349T>C,NP_000083.3:p.Ile1450Thr,46/48,\N,Likely benign,\N,missense_variant,0.004,0.001,1KG_EUR_AF,COL4A4
464565,2:227875202:A>T,NM_000092.4:c.4349T>A,NP_000083.3:p.Ile1450Asn,46/48,\N,Likely benign,\N,missense_variant,2.502,0.000613648,EXAC_AMR_AF,COL4A4
464566,2:227875214:G>A,NM_000092.4:c.4337C>T,NP_000083.3:p.Pro1446Leu,46/48,\N,Unknown significance,\N,missense_variant,14.29,0.000100604,EXAC_SAS_AF,COL4A4
464567,2:227875216:C>T,NM_000092.4:c.4335G>A,NP_000083.3:p.Gly1445=,46/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,0.467,\N,\N,COL4A4
464568,2:227875219:TG>T,NM_000092.4:c.4334-3del,\N,\N,45/47,Unknown significance,\N,splice_region_variant&intron_variant,0.74,0.00221417,EXAC_EAS_AF,COL4A4
464569,2:227875224:G>A,NM_000092.4:c.4334-7C>T,\N,\N,45/47,Unknown significance,\N,splice_region_variant&intron_variant,0.511,0.0000304711,EXAC_NFE_AF,COL4A4
464570,2:227875232:G>A,NM_000092.4:c.4334-15C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.803,0.001,1KG_EUR_AF,COL4A4
464571,2:227875233:A>G,NM_000092.4:c.4334-16T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,2.505,0.000160514,EXAC_SAS_AF,COL4A4
464572,2:227875240:T>A,NM_000092.4:c.4334-23A>T,\N,\N,45/47,Unknown significance,\N,intron_variant,4.655,0.0000427826,EXAC_NFE_AF,COL4A4
464573,2:227875240:T>C,NM_000092.4:c.4334-23A>G,\N,\N,45/47,Pathogenic,Alport syndrome,intron_variant,0.914,\N,\N,COL4A4
464574,2:227875246:G>T,NM_000092.4:c.4334-29C>A,\N,\N,45/47,Unknown significance,\N,intron_variant,5.816,0.001,1KG_EUR_AF,COL4A4
464575,2:227875248:A>G,NM_000092.4:c.4334-31T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,7.064,\N,\N,COL4A4
464576,2:227875290:T>C,NM_000092.4:c.4334-73A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,4.907,\N,\N,COL4A4
464577,2:227875300:G>A,NM_000092.4:c.4334-83C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,4.521,0.0015,1KG_AFR_AF,COL4A4
464578,2:227875303:C>T,NM_000092.4:c.4334-86G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,6.644,0.0015,1KG_AFR_AF,COL4A4
464579,2:227875348:G>A,NM_000092.4:c.4334-131C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,2.042,\N,\N,COL4A4
464580,2:227875353:C>T,NM_000092.4:c.4334-136G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,6.083,0.0014,1KG_AMR_AF,COL4A4
464581,2:227875360:G>A,NM_000092.4:c.4334-143C>T,\N,\N,45/47,Benign,\N,intron_variant,5.011,0.6407,1KG_AFR_AF,COL4A4
464582,2:227875369:T>A,NM_000092.4:c.4334-152A>T,\N,\N,45/47,Benign,\N,intron_variant,4.266,0.6399,1KG_AFR_AF,COL4A4
464583,2:227875421:A>G,NM_000092.4:c.4334-204T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,3.868,\N,\N,COL4A4
464584,2:227875463:CAG>C,NM_000092.4:c.4334-248_4334-247del,\N,\N,45/47,Unknown significance,\N,intron_variant,9.369,0.003,1KG_EAS_AF,COL4A4
464585,2:227875480:C>T,NM_000092.4:c.4334-263G>A,\N,\N,45/47,Benign,\N,intron_variant,9.478,0.0053,1KG_AFR_AF,COL4A4
464586,2:227875484:A>G,NM_000092.4:c.4334-267T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,6.458,0.0023,1KG_AFR_AF,COL4A4
464587,2:227875550:G>A,NM_000092.4:c.4334-333C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,0.468,0.001,1KG_EUR_AF,COL4A4
464588,2:227875562:G>A,NM_000092.4:c.4334-345C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.576,\N,\N,COL4A4
464589,2:227875624:A>T,NM_000092.4:c.4334-407T>A,\N,\N,45/47,Unknown significance,\N,intron_variant,4.637,0.0015,1KG_AFR_AF,COL4A4
464590,2:227875649:G>A,NM_000092.4:c.4334-432C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,4.648,0.001,1KG_SAS_AF,COL4A4
464591,2:227875651:C>T,NM_000092.4:c.4334-434G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,0.789,0.001,1KG_SAS_AF,COL4A4
464592,2:227875663:C>A,NM_000092.4:c.4334-446G>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.986,0.0008,1KG_AFR_AF,COL4A4
464593,2:227875668:C>G,NM_000092.4:c.4334-451G>C,\N,\N,45/47,Unknown significance,\N,intron_variant,1.619,0.0008,1KG_AFR_AF,COL4A4
464594,2:227875675:C>T,NM_000092.4:c.4334-458G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,3.471,\N,\N,COL4A4
464595,2:227875708:T>G,NM_000092.4:c.4334-491A>C,\N,\N,45/47,Unknown significance,\N,intron_variant,3.377,0.001,1KG_EAS_AF,COL4A4
464596,2:227875710:C>A,NM_000092.4:c.4334-493G>T,\N,\N,45/47,Benign,\N,intron_variant,3.601,0.0061,1KG_AFR_AF,COL4A4
464597,2:227875729:G>A,NM_000092.4:c.4334-512C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,4.022,\N,\N,COL4A4
464598,2:227875762:C>T,NM_000092.4:c.4334-545G>A,\N,\N,45/47,Benign,\N,intron_variant,2.632,0.3003,1KG_AFR_AF,COL4A4
464599,2:227875763:G>C,NM_000092.4:c.4334-546C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.075,0.001,1KG_EAS_AF,COL4A4
464600,2:227875794:T>G,NM_000092.4:c.4334-577A>C,\N,\N,45/47,Benign,\N,intron_variant,3.857,0.028,1KG_AFR_AF,COL4A4
464601,2:227875803:T>C,NM_000092.4:c.4334-586A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,2.845,\N,\N,COL4A4
464602,2:227875807:G>A,NM_000092.4:c.4334-590C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,2.57,0.0015,1KG_AFR_AF,COL4A4
464603,2:227875820:A>G,NM_000092.4:c.4334-603T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,5.6,\N,\N,COL4A4
464604,2:227875824:C>G,NM_000092.4:c.4334-607G>C,\N,\N,45/47,Benign,\N,intron_variant,2.252,0.0234,1KG_AFR_AF,COL4A4
464605,2:227875829:G>C,NM_000092.4:c.4334-612C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.985,0.0045,1KG_AFR_AF,COL4A4
464606,2:227875840:C>T,NM_000092.4:c.4334-623G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,2.851,\N,\N,COL4A4
464607,2:227875862:C>T,NM_000092.4:c.4334-645G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,2.221,\N,\N,COL4A4
464608,2:227875880:G>C,NM_000092.4:c.4334-663C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,3.417,0.002,1KG_EUR_AF,COL4A4
464609,2:227875886:T>C,NM_000092.4:c.4334-669A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,1.146,\N,\N,COL4A4
464610,2:227875940:C>T,NM_000092.4:c.4334-723G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,5.611,0.001,1KG_EAS_AF,COL4A4
464611,2:227875971:A>G,NM_000092.4:c.4334-754T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,2.371,\N,\N,COL4A4
464612,2:227876013:T>C,NM_000092.4:c.4334-796A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.699,0.0043,1KG_AMR_AF,COL4A4
464613,2:227876026:C>T,NM_000092.4:c.4334-809G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,1.738,0.001,1KG_SAS_AF,COL4A4
464614,2:227876027:G>A,NM_000092.4:c.4334-810C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.526,0.0038,1KG_AFR_AF,COL4A4
464615,2:227876033:G>A,NM_000092.4:c.4334-816C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,3.573,0.0014,1KG_AMR_AF,COL4A4
464616,2:227876057:G>T,NM_000092.4:c.4333+840C>A,\N,\N,45/47,Unknown significance,\N,intron_variant,1.909,\N,\N,COL4A4
464617,2:227876064:C>T,NM_000092.4:c.4333+833G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,1.575,0.003,1KG_AFR_AF,COL4A4
464618,2:227876065:G>A,NM_000092.4:c.4333+832C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,0.707,\N,\N,COL4A4
464619,2:227876065:G>C,NM_000092.4:c.4333+832C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.114,0.004,1KG_EAS_AF,COL4A4
464620,2:227876099:T>A,NM_000092.4:c.4333+798A>T,\N,\N,45/47,Unknown significance,\N,intron_variant,3.782,0.002,1KG_SAS_AF,COL4A4
464621,2:227876099:T>C,NM_000092.4:c.4333+798A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,1.424,\N,\N,COL4A4
464622,2:227876114:G>A,NM_000092.4:c.4333+783C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.411,0.001,1KG_EUR_AF,COL4A4
464623,2:227876129:G>A,NM_000092.4:c.4333+768C>T,\N,\N,45/47,Benign,\N,intron_variant,5.588,0.5951,1KG_SAS_AF,COL4A4
464624,2:227876170:C>A,NM_000092.4:c.4333+727G>T,\N,\N,45/47,Unknown significance,\N,intron_variant,11.29,\N,\N,COL4A4
464625,2:227876225:G>A,NM_000092.4:c.4333+672C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,0.674,0.001,1KG_EAS_AF,COL4A4
464626,2:227876232:C>T,NM_000092.4:c.4333+665G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,3.481,\N,\N,COL4A4
464627,2:227876259:G>A,NM_000092.4:c.4333+638C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,0.979,\N,\N,COL4A4
464628,2:227876274:G>T,NM_000092.4:c.4333+623C>A,\N,\N,45/47,Benign,\N,intron_variant,0.823,0.6407,1KG_AFR_AF,COL4A4
464629,2:227876292:TTG>T,NM_000092.4:c.4333+603_4333+604del,\N,\N,45/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464630,2:227876299:T>C,NM_000092.4:c.4333+598A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,2.575,\N,\N,COL4A4
464631,2:227876320:G>A,NM_000092.4:c.4333+577C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.025,0.001,1KG_EAS_AF,COL4A4
464632,2:227876327:G>A,NM_000092.4:c.4333+570C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,1.132,0.0015,1KG_AFR_AF,COL4A4
464633,2:227876337:G>A,NM_000092.4:c.4333+560C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,3.491,\N,\N,COL4A4
464634,2:227876344:G>C,NM_000092.4:c.4333+553C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.462,\N,\N,COL4A4
464635,2:227876351:A>G,NM_000092.4:c.4333+546T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,3.36,\N,\N,COL4A4
464636,2:227876357:A>G,NM_000092.4:c.4333+540T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,4.701,\N,\N,COL4A4
464637,2:227876376:C>G,NM_000092.4:c.4333+521G>C,\N,\N,45/47,Unknown significance,\N,intron_variant,3.239,0.0015,1KG_AFR_AF,COL4A4
464638,2:227876411:T>G,NM_000092.4:c.4333+486A>C,\N,\N,45/47,Unknown significance,\N,intron_variant,2.468,0.0008,1KG_AFR_AF,COL4A4
464639,2:227876448:T>C,NM_000092.4:c.4333+449A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,3.052,0.001,1KG_EUR_AF,COL4A4
464640,2:227876456:T>C,NM_000092.4:c.4333+441A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,4.128,\N,\N,COL4A4
464641,2:227876481:A>G,NM_000092.4:c.4333+416T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,4.043,\N,\N,COL4A4
464642,2:227876488:G>C,NM_000092.4:c.4333+409C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.046,0.0008,1KG_AFR_AF,COL4A4
464643,2:227876507:G>C,NM_000092.4:c.4333+390C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,0.436,\N,\N,COL4A4
464644,2:227876525:G>A,NM_000092.4:c.4333+372C>T,\N,\N,45/47,Benign,\N,intron_variant,0.341,0.4959,1KG_SAS_AF,COL4A4
464645,2:227876537:T>C,NM_000092.4:c.4333+360A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,3.318,0.0043,1KG_AMR_AF,COL4A4
464646,2:227876547:C>T,NM_000092.4:c.4333+350G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,9.131,0.002,1KG_EUR_AF,COL4A4
464647,2:227876579:G>C,NM_000092.4:c.4333+318C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,4.523,\N,\N,COL4A4
464648,2:227876582:C>T,NM_000092.4:c.4333+315G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,4.427,0.002,1KG_EAS_AF,COL4A4
464649,2:227876606:G>A,NM_000092.4:c.4333+291C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,3.992,\N,\N,COL4A4
464650,2:227876609:C>A,NM_000092.4:c.4333+288G>T,\N,\N,45/47,Unknown significance,\N,intron_variant,5.865,0.001,1KG_SAS_AF,COL4A4
464651,2:227876652:G>A,NM_000092.4:c.4333+245C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,6.107,0.001,1KG_SAS_AF,COL4A4
464652,2:227876659:T>C,NM_000092.4:c.4333+238A>G,\N,\N,45/47,Benign,\N,intron_variant,4.012,0.1581,1KG_AFR_AF,COL4A4
464653,2:227876684:C>T,NM_000092.4:c.4333+213G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,5.917,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
464654,2:227876687:G>A,NM_000092.4:c.4333+210C>T,\N,\N,45/47,Benign,\N,intron_variant,3.806,0.1104,1KG_SAS_AF,COL4A4
464655,2:227876718:A>G,NM_000092.4:c.4333+179T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,0.441,0.0014,1KG_AMR_AF,COL4A4
464656,2:227876737:C>T,NM_000092.4:c.4333+160G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,9.052,\N,\N,COL4A4
464657,2:227876739:G>T,NM_000092.4:c.4333+158C>A,\N,\N,45/47,Unknown significance,\N,intron_variant,9.818,\N,\N,COL4A4
464658,2:227876758:C>T,NM_000092.4:c.4333+139G>A,\N,\N,45/47,Unknown significance,\N,intron_variant,10.11,0.0014,1KG_AMR_AF,COL4A4
464659,2:227876766:T>A,NM_000092.4:c.4333+131A>T,\N,\N,45/47,Unknown significance,\N,intron_variant,9.567,0.002,1KG_SAS_AF,COL4A4
464660,2:227876774:C>T,NM_000092.4:c.4333+123G>A,\N,\N,45/47,Benign,\N,intron_variant,2.197,0.0123,1KG_SAS_AF,COL4A4
464661,2:227876779:T>C,NM_000092.4:c.4333+118A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,3.523,\N,\N,COL4A4
464662,2:227876807:A>C,NM_000092.4:c.4333+90T>G,\N,\N,45/47,Benign,\N,intron_variant,0.252,0.0099,1KG_EUR_AF,COL4A4
464663,2:227876824:G>A,NM_000092.4:c.4333+73C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,4.766,\N,\N,COL4A4
464664,2:227876831:C>A,NM_000092.4:c.4333+66G>T,\N,\N,45/47,Unknown significance,\N,intron_variant,6.241,\N,\N,COL4A4
464665,2:227876838:T>G,NM_000092.4:c.4333+59A>C,\N,\N,45/47,Unknown significance,\N,intron_variant,5.837,0.0008,1KG_AFR_AF,COL4A4
464666,2:227876843:A>G,NM_000092.4:c.4333+54T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,3.011,0.001,1KG_EUR_AF,COL4A4
464667,2:227876852:T>C,NM_000092.4:c.4333+45A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,2.84,0.000182149,EXAC_SAS_AF,COL4A4
464668,2:227876853:A>G,NM_000092.4:c.4333+44T>C,\N,\N,45/47,Unknown significance,\N,intron_variant,2.242,0.0000150258,EXAC_NFE_AF,COL4A4
464669,2:227876855:G>A,NM_000092.4:c.4333+42C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,3.806,0.000364431,EXAC_SAS_AF,COL4A4
464670,2:227876863:G>A,NM_000092.4:c.4333+34C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,6.851,0.00128475,EXAC_EAS_AF,COL4A4
464671,2:227876863:G>C,NM_000092.4:c.4333+34C>G,\N,\N,45/47,Unknown significance,\N,intron_variant,4.206,0.0000607238,EXAC_SAS_AF,COL4A4
464672,2:227876864:T>C,NM_000092.4:c.4333+33A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,8.898,0.000121595,EVS_EA_AF,COL4A4
464673,2:227876875:AGAG>A,NM_000092.4:c.4333+19_4333+21del,\N,\N,45/47,Unknown significance,\N,intron_variant,10.8,0.000102648,EXAC_AFR_AF,COL4A4
464674,2:227876881:G>A,NM_000092.4:c.4333+16C>T,\N,\N,45/47,Unknown significance,\N,intron_variant,10.39,0.000182083,EXAC_SAS_AF,COL4A4
464675,2:227876886:T>C,NM_000092.4:c.4333+11A>G,\N,\N,45/47,Unknown significance,\N,intron_variant,9.36,0.000045041,EXAC_NFE_AF,COL4A4
464676,2:227876890:ACT>A,NM_000092.4:c.4333+5_4333+6del,\N,\N,45/47,Unknown significance,\N,splice_region_variant&intron_variant,12.74,\N,\N,COL4A4
464677,2:227876891:C>A,NM_000092.4:c.4333+6G>T,\N,\N,45/47,Unknown significance,\N,splice_region_variant&intron_variant,13.04,0.0014,1KG_AMR_AF,COL4A4
464678,2:227876895:A>G,NM_000092.4:c.4333+2T>C,\N,\N,45/47,Unknown significance,\N,splice_donor_variant,24.4,0.0000150105,EXAC_NFE_AF,COL4A4
464679,2:227876903:C>G,NM_000092.4:c.4327G>C,NP_000083.3:p.Gly1443Arg,45/48,\N,Likely benign,\N,missense_variant,9.941,0.000303472,EXAC_SAS_AF,COL4A4
464680,2:227876903:C>T,NM_000092.4:c.4327G>A,NP_000083.3:p.Gly1443Arg,45/48,\N,Likely benign,\N,missense_variant,11.18,0.0000150096,EXAC_NFE_AF,COL4A4
464681,2:227876908:G>A,NM_000092.4:c.4322C>T,NP_000083.3:p.Pro1441Leu,45/48,\N,Likely benign,\N,missense_variant,12.07,0.0008,1KG_AFR_AF,COL4A4
464682,2:227876909:G>A,NM_000092.4:c.4321C>T,NP_000083.3:p.Pro1441Ser,45/48,\N,Unknown significance,\N,missense_variant,1.999,0.0000150083,EXAC_NFE_AF,COL4A4
464683,2:227876914:C>T,NM_000092.4:c.4316G>A,NP_000083.3:p.Gly1439Asp,45/48,\N,Pathogenic,Deafness,missense_variant,23.3,\N,\N,COL4A4
464684,2:227876916:G>A,NM_000092.4:c.4314C>T,NP_000083.3:p.Asp1438=,45/48,\N,Unknown significance,\N,synonymous_variant,4.323,0.000517598,EVS_AA_AF,COL4A4
464685,2:227876925:T>A,NM_000092.4:c.4305A>T,NP_000083.3:p.Thr1435=,45/48,\N,Unknown significance,\N,synonymous_variant,5.62,0.0000867303,EXAC_AMR_AF,COL4A4
464686,2:227876932:C>T,NM_000092.4:c.4298G>A,NP_000083.3:p.Gly1433Asp,45/48,\N,Likely pathogenic,Glomerular microscopic haematuria,missense_variant,24.1,\N,\N,COL4A4
464687,2:227876938:C>T,NM_000092.4:c.4292G>A,NP_000083.3:p.Arg1431His,45/48,\N,Likely benign,\N,missense_variant,8.288,0.000303288,EXAC_SAS_AF,COL4A4
464688,2:227876939:G>A,NM_000092.4:c.4291C>T,NP_000083.3:p.Arg1431Cys,45/48,\N,Likely benign,\N,missense_variant,18.31,0.001,1KG_EAS_AF,COL4A4
464689,2:227876939:G>T,NM_000092.4:c.4291C>A,NP_000083.3:p.Arg1431Ser,45/48,\N,Likely benign,\N,missense_variant,11.98,0.000102396,EXAC_AFR_AF,COL4A4
464690,2:227876942:C>T,NM_000092.4:c.4288G>A,NP_000083.3:p.Gly1430Arg,45/48,\N,Unknown significance,\N,missense_variant,25.1,0.000102459,EXAC_AFR_AF,COL4A4
464691,2:227876943:G>A,NM_000092.4:c.4287C>T,NP_000083.3:p.Pro1429=,45/48,\N,Unknown significance,\N,synonymous_variant,5.852,0.0008,1KG_AFR_AF,COL4A4
464692,2:227876957:A>G,NM_000092.4:c.4273T>C,NP_000083.3:p.Ser1425Pro,45/48,\N,Likely benign,\N,missense_variant,8.777,0.000102459,EXAC_AFR_AF,COL4A4
464693,2:227876958:C>T,NM_000092.4:c.4272G>A,NP_000083.3:p.Gly1424=,45/48,\N,Unknown significance,\N,synonymous_variant,12.88,0.0000150123,EXAC_NFE_AF,COL4A4
464694,2:227876962:G>C,NM_000092.4:c.4268C>G,NP_000083.3:p.Pro1423Arg,45/48,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,COL4A4
464695,2:227876963:G>A,NM_000092.4:c.4267C>T,NP_000083.3:p.Pro1423Ser,45/48,\N,Pathogenic,Alport syndrome| autosomal dominant,missense_variant,16.14,\N,\N,COL4A4
464696,2:227876966:C>T,NM_000092.4:c.4264G>A,NP_000083.3:p.Val1422Ile,45/48,\N,Likely benign,\N,missense_variant,0.002,0.0041,1KG_SAS_AF,COL4A4
464697,2:227876967:G>C,NM_000092.4:c.4263C>G,NP_000083.3:p.Gly1421=,45/48,\N,Unknown significance,\N,synonymous_variant,2.205,\N,\N,COL4A4
464698,2:227876967:G>T,NM_000092.4:c.4263C>A,NP_000083.3:p.Gly1421=,45/48,\N,Unknown significance,\N,synonymous_variant,2.712,\N,\N,COL4A4
464699,2:227876975:CACCCCTCCTGCCAT>C,NM_000092.4:c.4241_4254del,NP_000083.3:p.Asp1414GlyfsTer14,45/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
464700,2:227876983:C>T,NM_000092.4:c.4247G>A,NP_000083.3:p.Arg1416Lys,45/48,\N,Likely benign,\N,missense_variant,16.06,0.001,1KG_EUR_AF,COL4A4
464701,2:227876988:A>T,NM_000092.4:c.4242T>A,NP_000083.3:p.Asp1414Glu,45/48,\N,Likely benign,\N,missense_variant,8.725,0.000120135,EVS_EA_AF,COL4A4
464702,2:227876994:C>A,NM_000092.4:c.4236G>T,NP_000083.3:p.Gly1412=,45/48,\N,Unknown significance,\N,synonymous_variant,18.51,0.000119962,EVS_EA_AF,COL4A4
464703,2:227876995:C>T,NM_000092.4:c.4235G>A,NP_000083.3:p.Gly1412Glu,45/48,\N,Unknown significance,\N,missense_variant,25.5,0.0008,1KG_AFR_AF,COL4A4
464704,2:227877002:C>T,NM_000092.4:c.4228G>A,NP_000083.3:p.Glu1410Lys,45/48,\N,Likely benign,\N,missense_variant,16.35,\N,\N,COL4A4
464705,2:227877004:C>G,NM_000092.4:c.4226G>C,NP_000083.3:p.Gly1409Ala,45/48,\N,Unknown significance,\N,missense_variant,24.3,0.000102438,EXAC_AFR_AF,COL4A4
464706,2:227877005:C>T,NM_000092.4:c.4225G>A,NP_000083.3:p.Gly1409Arg,45/48,\N,Unknown significance,\N,missense_variant,26.4,0.0000150164,EXAC_NFE_AF,COL4A4
464707,2:227877009:G>A,NM_000092.4:c.4221C>T,NP_000083.3:p.Cys1407=,45/48,\N,Unknown significance,\N,synonymous_variant,10.36,0.0000150155,EXAC_NFE_AF,COL4A4
464708,2:227877019:C>T,NM_000092.4:c.4217-6G>A,\N,\N,44/47,Unknown significance,\N,splice_region_variant&intron_variant,11.85,0.00010248,EXAC_AFR_AF,COL4A4
464709,2:227877028:A>G,NM_000092.4:c.4217-15T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,12.3,0.00394831,EVS_EA_AF,COL4A4
464710,2:227877034:C>G,NM_000092.4:c.4217-21G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.621,0.000116469,EXAC_EAS_AF,COL4A4
464711,2:227877034:C>T,NM_000092.4:c.4217-21G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,6.11,0.000181973,EXAC_SAS_AF,COL4A4
464712,2:227877037:G>A,NM_000092.4:c.4217-24C>T,\N,\N,44/47,Benign,\N,intron_variant,3.737,0.6407,1KG_AFR_AF,COL4A4
464713,2:227877046:G>A,NM_000092.4:c.4217-33C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.348,0.0000607533,EXAC_SAS_AF,COL4A4
464714,2:227877046:G>C,NM_000092.4:c.4217-33C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.296,0.000738285,EXAC_NFE_AF,COL4A4
464715,2:227877073:C>T,NM_000092.4:c.4217-60G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.482,0.0015,1KG_AFR_AF,COL4A4
464716,2:227877074:G>A,NM_000092.4:c.4217-61C>T,\N,\N,44/47,Benign,\N,intron_variant,1.187,0.0091,1KG_AFR_AF,COL4A4
464717,2:227877074:G>C,NM_000092.4:c.4217-61C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.283,\N,\N,COL4A4
464718,2:227877085:G>A,NM_000092.4:c.4217-72C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.495,\N,\N,COL4A4
464719,2:227877195:A>G,NM_000092.4:c.4217-182T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,8.769,\N,\N,COL4A4
464720,2:227877202:G>A,NM_000092.4:c.4217-189C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,8.827,0.0023,1KG_AFR_AF,COL4A4
464721,2:227877210:G>A,NM_000092.4:c.4217-197C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,12.13,\N,\N,COL4A4
464722,2:227877255:C>T,NM_000092.4:c.4217-242G>A,\N,\N,44/47,Benign,\N,intron_variant,3.42,0.0514,1KG_AFR_AF,COL4A4
464723,2:227877287:C>T,NM_000092.4:c.4217-274G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.092,\N,\N,COL4A4
464724,2:227877295:G>A,NM_000092.4:c.4217-282C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.304,\N,\N,COL4A4
464725,2:227877295:G>T,NM_000092.4:c.4217-282C>A,\N,\N,44/47,Benign,\N,intron_variant,0.057,0.006,1KG_EUR_AF,COL4A4
464726,2:227877338:T>C,NM_000092.4:c.4217-325A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.499,\N,\N,COL4A4
464727,2:227877347:T>TAAAAA,NM_000092.4:c.4217-335_4217-334insTTTTT,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464728,2:227877348:C>CAAAA,NM_000092.4:c.4217-339_4217-336dup,\N,\N,44/47,Unknown significance,\N,intron_variant,2.498,\N,\N,COL4A4
464729,2:227877348:C>CAAAAA,NM_000092.4:c.4217-340_4217-336dup,\N,\N,44/47,Unknown significance,\N,intron_variant,2.35,\N,\N,COL4A4
464730,2:227877348:CA>C,NM_000092.4:c.4217-336del,\N,\N,44/47,Unknown significance,\N,intron_variant,4.672,\N,\N,COL4A4
464731,2:227877435:G>C,NM_000092.4:c.4217-422C>G,\N,\N,44/47,Benign,\N,intron_variant,0.464,0.0363,1KG_AFR_AF,COL4A4
464732,2:227877439:T>A,NM_000092.4:c.4217-426A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,8.361,0.001,1KG_SAS_AF,COL4A4
464733,2:227877454:C>T,NM_000092.4:c.4217-441G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.045,0.0014,1KG_AMR_AF,COL4A4
464734,2:227877455:G>T,NM_000092.4:c.4217-442C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.663,0.002,1KG_EUR_AF,COL4A4
464735,2:227877472:C>G,NM_000092.4:c.4217-459G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.833,\N,\N,COL4A4
464736,2:227877472:C>T,NM_000092.4:c.4217-459G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.409,0.0038,1KG_AFR_AF,COL4A4
464737,2:227877473:G>A,NM_000092.4:c.4217-460C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.915,0.0023,1KG_AFR_AF,COL4A4
464738,2:227877500:C>A,NM_000092.4:c.4217-487G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.535,\N,\N,COL4A4
464739,2:227877525:G>C,NM_000092.4:c.4217-512C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.062,0.001,1KG_SAS_AF,COL4A4
464740,2:227877558:C>T,NM_000092.4:c.4217-545G>A,\N,\N,44/47,Benign,\N,intron_variant,4.368,0.0219,1KG_AFR_AF,COL4A4
464741,2:227877592:G>C,NM_000092.4:c.4217-579C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.942,0.003,1KG_EAS_AF,COL4A4
464742,2:227877615:T>C,NM_000092.4:c.4217-602A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.43,0.001,1KG_SAS_AF,COL4A4
464743,2:227877628:T>C,NM_000092.4:c.4217-615A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.728,\N,\N,COL4A4
464744,2:227877631:C>T,NM_000092.4:c.4217-618G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.747,\N,\N,COL4A4
464745,2:227877663:G>C,NM_000092.4:c.4217-650C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.673,\N,\N,COL4A4
464746,2:227877680:G>C,NM_000092.4:c.4217-667C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.827,0.002,1KG_EAS_AF,COL4A4
464747,2:227877738:C>T,NM_000092.4:c.4217-725G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.923,0.001,1KG_SAS_AF,COL4A4
464748,2:227877767:C>T,NM_000092.4:c.4217-754G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.77,0.001,1KG_EUR_AF,COL4A4
464749,2:227877790:C>T,NM_000092.4:c.4217-777G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.202,\N,\N,COL4A4
464750,2:227877791:G>A,NM_000092.4:c.4217-778C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.53,0.0023,1KG_AFR_AF,COL4A4
464751,2:227877800:T>C,NM_000092.4:c.4217-787A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.483,0.0008,1KG_AFR_AF,COL4A4
464752,2:227877815:G>A,NM_000092.4:c.4217-802C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.094,\N,\N,COL4A4
464753,2:227877817:A>G,NM_000092.4:c.4217-804T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.494,\N,\N,COL4A4
464754,2:227877820:C>T,NM_000092.4:c.4217-807G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.68,\N,\N,COL4A4
464755,2:227877906:G>A,NM_000092.4:c.4217-893C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.639,0.001,1KG_EAS_AF,COL4A4
464756,2:227877918:T>C,NM_000092.4:c.4217-905A>G,\N,\N,44/47,Benign,\N,intron_variant,1.354,0.0863,1KG_EAS_AF,COL4A4
464757,2:227877947:C>T,NM_000092.4:c.4217-934G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.343,\N,\N,COL4A4
464758,2:227877975:C>A,NM_000092.4:c.4217-962G>T,\N,\N,44/47,Benign,\N,intron_variant,1.278,0.005,1KG_EAS_AF,COL4A4
464759,2:227877977:A>G,NM_000092.4:c.4217-964T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.33,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
464760,2:227877982:C>G,NM_000092.4:c.4217-969G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.879,\N,\N,COL4A4
464761,2:227877989:T>A,NM_000092.4:c.4217-976A>T,\N,\N,44/47,Benign,\N,intron_variant,4.387,0.0681,1KG_AFR_AF,COL4A4
464762,2:227878002:GTC>G,NM_000092.4:c.4217-991_4217-990del,\N,\N,44/47,Unknown significance,\N,intron_variant,7.531,\N,\N,COL4A4
464763,2:227878002:GTCTC>G,NM_000092.4:c.4217-993_4217-990del,\N,\N,44/47,Unknown significance,\N,intron_variant,8.219,\N,\N,COL4A4
464764,2:227878006:C>T,NM_000092.4:c.4217-993G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,8.008,\N,\N,COL4A4
464765,2:227878012:C>G,NM_000092.4:c.4217-999G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.338,\N,\N,COL4A4
464766,2:227878084:C>T,NM_000092.4:c.4217-1071G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.158,0.0015,1KG_AFR_AF,COL4A4
464767,2:227878146:GAGCCTCTT>G,NM_000092.4:c.4217-1141_4217-1134del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464768,2:227878149:C>T,NM_000092.4:c.4217-1136G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.897,0.002,1KG_EUR_AF,COL4A4
464769,2:227878155:AG>A,NM_000092.4:c.4217-1143del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464770,2:227878165:C>T,NM_000092.4:c.4217-1152G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.383,\N,\N,COL4A4
464771,2:227878214:G>A,NM_000092.4:c.4217-1201C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.276,\N,\N,COL4A4
464772,2:227878221:AC>A,NM_000092.4:c.4217-1209del,\N,\N,44/47,Unknown significance,\N,intron_variant,1.846,\N,\N,COL4A4
464773,2:227878260:G>C,NM_000092.4:c.4217-1247C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.467,0.0045,1KG_AFR_AF,COL4A4
464774,2:227878262:C>A,NM_000092.4:c.4217-1249G>T,\N,\N,44/47,Benign,\N,intron_variant,2.301,0.0083,1KG_AFR_AF,COL4A4
464775,2:227878266:G>A,NM_000092.4:c.4217-1253C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.657,\N,\N,COL4A4
464776,2:227878280:A>T,NM_000092.4:c.4217-1267T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.092,0.001,1KG_SAS_AF,COL4A4
464777,2:227878299:C>T,NM_000092.4:c.4217-1286G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.517,\N,\N,COL4A4
464778,2:227878303:G>A,NM_000092.4:c.4217-1290C>T,\N,\N,44/47,Benign,\N,intron_variant,3.56,0.09,1KG_AFR_AF,COL4A4
464779,2:227878325:C>G,NM_000092.4:c.4217-1312G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.638,\N,\N,COL4A4
464780,2:227878339:C>T,NM_000092.4:c.4217-1326G>A,\N,\N,44/47,Benign,\N,intron_variant,4.337,0.09,1KG_AFR_AF,COL4A4
464781,2:227878379:T>C,NM_000092.4:c.4217-1366A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.009,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
464782,2:227878423:C>T,NM_000092.4:c.4217-1410G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.316,0.0014,1KG_AMR_AF,COL4A4
464783,2:227878428:C>T,NM_000092.4:c.4217-1415G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.552,\N,\N,COL4A4
464784,2:227878429:G>A,NM_000092.4:c.4217-1416C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.55,\N,\N,COL4A4
464785,2:227878479:C>T,NM_000092.4:c.4217-1466G>A,\N,\N,44/47,Benign,\N,intron_variant,0.476,0.0265,1KG_AFR_AF,COL4A4
464786,2:227878492:C>T,NM_000092.4:c.4217-1479G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.123,0.0008,1KG_AFR_AF,COL4A4
464787,2:227878503:C>G,NM_000092.4:c.4217-1490G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.64,\N,\N,COL4A4
464788,2:227878562:C>G,NM_000092.4:c.4217-1549G>C,\N,\N,44/47,Benign,\N,intron_variant,0.455,0.7345,1KG_AFR_AF,COL4A4
464789,2:227878576:G>A,NM_000092.4:c.4217-1563C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.996,0.0008,1KG_AFR_AF,COL4A4
464790,2:227878590:C>T,NM_000092.4:c.4217-1577G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.604,0.001,1KG_SAS_AF,COL4A4
464791,2:227878619:A>G,NM_000092.4:c.4217-1606T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.183,\N,\N,COL4A4
464792,2:227878629:G>A,NM_000092.4:c.4217-1616C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.285,0.0008,1KG_AFR_AF,COL4A4
464793,2:227878641:A>G,NM_000092.4:c.4217-1628T>C,\N,\N,44/47,Benign,\N,intron_variant,3.242,0.0072,1KG_AMR_AF,COL4A4
464794,2:227878646:C>T,NM_000092.4:c.4217-1633G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.193,0.0031,1KG_SAS_AF,COL4A4
464795,2:227878653:C>T,NM_000092.4:c.4217-1640G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.928,\N,\N,COL4A4
464796,2:227878654:G>A,NM_000092.4:c.4217-1641C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.992,\N,\N,COL4A4
464797,2:227878658:CCCT>C,NM_000092.4:c.4217-1648_4217-1646del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464798,2:227878666:C>T,NM_000092.4:c.4217-1653G>A,\N,\N,44/47,Benign,\N,intron_variant,2.286,0.0371,1KG_AFR_AF,COL4A4
464799,2:227878672:A>G,NM_000092.4:c.4217-1659T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.772,\N,\N,COL4A4
464800,2:227878681:C>T,NM_000092.4:c.4217-1668G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,7.281,0.004,1KG_EUR_AF,COL4A4
464801,2:227878694:G>T,NM_000092.4:c.4217-1681C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.899,0.0008,1KG_AFR_AF,COL4A4
464802,2:227878697:T>C,NM_000092.4:c.4217-1684A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,4.91,0.001,1KG_SAS_AF,COL4A4
464803,2:227878710:A>C,NM_000092.4:c.4217-1697T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.398,\N,\N,COL4A4
464804,2:227878723:T>C,NM_000092.4:c.4217-1710A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,3.055,0.001,1KG_EUR_AF,COL4A4
464805,2:227878739:G>A,NM_000092.4:c.4217-1726C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.847,0.0008,1KG_AFR_AF,COL4A4
464806,2:227878779:C>A,NM_000092.4:c.4217-1766G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,6.366,\N,\N,COL4A4
464807,2:227878782:T>A,NM_000092.4:c.4217-1769A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.238,\N,\N,COL4A4
464808,2:227878784:C>A,NM_000092.4:c.4217-1771G>T,\N,\N,44/47,Benign,\N,intron_variant,0.519,0.0272,1KG_AFR_AF,COL4A4
464809,2:227878785:G>A,NM_000092.4:c.4217-1772C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.288,0.001,1KG_SAS_AF,COL4A4
464810,2:227878810:C>T,NM_000092.4:c.4217-1797G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.146,\N,\N,COL4A4
464811,2:227878811:G>A,NM_000092.4:c.4217-1798C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.521,0.0045,1KG_AFR_AF,COL4A4
464812,2:227878818:A>C,NM_000092.4:c.4217-1805T>G,\N,\N,44/47,Benign,\N,intron_variant,0.707,0.6157,1KG_AFR_AF,COL4A4
464813,2:227878819:G>A,NM_000092.4:c.4217-1806C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.978,0.001,1KG_EAS_AF,COL4A4
464814,2:227878853:G>A,NM_000092.4:c.4217-1840C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.758,0.001,1KG_SAS_AF,COL4A4
464815,2:227878894:T>C,NM_000092.4:c.4217-1881A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.697,0.0008,1KG_AFR_AF,COL4A4
464816,2:227878911:A>G,NM_000092.4:c.4217-1898T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.96,\N,\N,COL4A4
464817,2:227878926:C>T,NM_000092.4:c.4217-1913G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.372,0.001,1KG_EUR_AF,COL4A4
464818,2:227878936:G>C,NM_000092.4:c.4217-1923C>G,\N,\N,44/47,Benign,\N,intron_variant,1.516,0.5951,1KG_SAS_AF,COL4A4
464819,2:227878957:A>G,NM_000092.4:c.4217-1944T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.5,0.001,1KG_EAS_AF,COL4A4
464820,2:227878981:C>T,NM_000092.4:c.4217-1968G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.139,0.003,1KG_AFR_AF,COL4A4
464821,2:227878988:G>A,NM_000092.4:c.4217-1975C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.653,\N,\N,COL4A4
464822,2:227879017:G>A,NM_000092.4:c.4217-2004C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.222,0.001,1KG_SAS_AF,COL4A4
464823,2:227879042:T>G,NM_000092.4:c.4217-2029A>C,\N,\N,44/47,Benign,\N,intron_variant,6.231,0.0082,1KG_SAS_AF,COL4A4
464824,2:227879077:C>T,NM_000092.4:c.4217-2064G>A,\N,\N,44/47,Benign,\N,intron_variant,4.114,0.0119,1KG_EAS_AF,COL4A4
464825,2:227879105:C>G,NM_000092.4:c.4217-2092G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.336,0.001,1KG_EAS_AF,COL4A4
464826,2:227879129:T>A,NM_000092.4:c.4217-2116A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,7.959,\N,\N,COL4A4
464827,2:227879133:T>G,NM_000092.4:c.4217-2120A>C,\N,\N,44/47,Benign,\N,intron_variant,5.364,0.0318,1KG_AFR_AF,COL4A4
464828,2:227879152:G>A,NM_000092.4:c.4217-2139C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.405,0.002,1KG_SAS_AF,COL4A4
464829,2:227879246:C>A,NM_000092.4:c.4217-2233G>T,\N,\N,44/47,Benign,\N,intron_variant,1.409,0.0257,1KG_AFR_AF,COL4A4
464830,2:227879262:T>C,NM_000092.4:c.4217-2249A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.762,0.001,1KG_EAS_AF,COL4A4
464831,2:227879293:G>C,NM_000092.4:c.4217-2280C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,9.094,\N,\N,COL4A4
464832,2:227879360:T>C,NM_000092.4:c.4217-2347A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.894,0.0008,1KG_AFR_AF,COL4A4
464833,2:227879365:T>C,NM_000092.4:c.4217-2352A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.237,0.001,1KG_EUR_AF,COL4A4
464834,2:227879377:T>A,NM_000092.4:c.4217-2364A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.564,\N,\N,COL4A4
464835,2:227879382:A>G,NM_000092.4:c.4217-2369T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.573,\N,\N,COL4A4
464836,2:227879401:A>G,NM_000092.4:c.4217-2388T>C,\N,\N,44/47,Benign,\N,intron_variant,3.834,0.0061,1KG_AFR_AF,COL4A4
464837,2:227879418:A>C,NM_000092.4:c.4217-2405T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.897,\N,\N,COL4A4
464838,2:227879418:ATTTCT>A,NM_000092.4:c.4217-2410_4217-2406del,\N,\N,44/47,Benign,\N,intron_variant,1.91,0.0288,1KG_EUR_AF,COL4A4
464839,2:227879430:TTTTG>T,NM_000092.4:c.4217-2421_4217-2418del,\N,\N,44/47,Benign,\N,intron_variant,2.461,0.0318,1KG_AFR_AF,COL4A4
464840,2:227879452:A>G,NM_000092.4:c.4217-2439T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.448,0.001,1KG_SAS_AF,COL4A4
464841,2:227879457:C>T,NM_000092.4:c.4217-2444G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.524,\N,\N,COL4A4
464842,2:227879483:G>T,NM_000092.4:c.4217-2470C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.602,\N,\N,COL4A4
464843,2:227879491:A>G,NM_000092.4:c.4217-2478T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.529,\N,\N,COL4A4
464844,2:227879516:T>A,NM_000092.4:c.4217-2503A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.231,\N,\N,COL4A4
464845,2:227879558:G>T,NM_000092.4:c.4217-2545C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.012,0.0008,1KG_AFR_AF,COL4A4
464846,2:227879591:C>T,NM_000092.4:c.4217-2578G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.259,\N,\N,COL4A4
464847,2:227879628:T>C,NM_000092.4:c.4217-2615A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.198,0.001,1KG_SAS_AF,COL4A4
464848,2:227879660:G>T,NM_000092.4:c.4217-2647C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.587,0.001,1KG_EAS_AF,COL4A4
464849,2:227879695:A>G,NM_000092.4:c.4217-2682T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.182,0.001,1KG_EAS_AF,COL4A4
464850,2:227879699:C>T,NM_000092.4:c.4217-2686G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.365,0.003,1KG_EAS_AF,COL4A4
464851,2:227879701:G>A,NM_000092.4:c.4217-2688C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.206,0.001,1KG_EAS_AF,COL4A4
464852,2:227879702:C>T,NM_000092.4:c.4217-2689G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.216,0.0008,1KG_AFR_AF,COL4A4
464853,2:227879707:C>G,NM_000092.4:c.4217-2694G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.024,0.0015,1KG_AFR_AF,COL4A4
464854,2:227879709:G>C,NM_000092.4:c.4217-2696C>G,\N,\N,44/47,Benign,\N,intron_variant,0.51,0.0079,1KG_EAS_AF,COL4A4
464855,2:227879715:A>G,NM_000092.4:c.4217-2702T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.879,\N,\N,COL4A4
464856,2:227879755:C>T,NM_000092.4:c.4217-2742G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.435,0.0008,1KG_AFR_AF,COL4A4
464857,2:227879763:C>T,NM_000092.4:c.4217-2750G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.006,0.0015,1KG_AFR_AF,COL4A4
464858,2:227879764:G>A,NM_000092.4:c.4217-2751C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.082,0.001,1KG_EAS_AF,COL4A4
464859,2:227879823:G>A,NM_000092.4:c.4217-2810C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.802,\N,\N,COL4A4
464860,2:227879827:G>A,NM_000092.4:c.4217-2814C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.646,0.001,1KG_SAS_AF,COL4A4
464861,2:227879863:T>C,NM_000092.4:c.4217-2850A>G,\N,\N,44/47,Benign,\N,intron_variant,0.376,0.6157,1KG_AFR_AF,COL4A4
464862,2:227879878:T>C,NM_000092.4:c.4217-2865A>G,\N,\N,44/47,Benign,\N,intron_variant,1.315,0.0082,1KG_SAS_AF,COL4A4
464863,2:227879961:A>G,NM_000092.4:c.4217-2948T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,8.119,0.0008,1KG_AFR_AF,COL4A4
464864,2:227879978:G>A,NM_000092.4:c.4217-2965C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.076,0.004,1KG_EAS_AF,COL4A4
464865,2:227880060:A>G,NM_000092.4:c.4217-3047T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,9.301,0.001,1KG_EUR_AF,COL4A4
464866,2:227880063:A>G,NM_000092.4:c.4217-3050T>C,\N,\N,44/47,Benign,\N,intron_variant,7.941,0.0061,1KG_AFR_AF,COL4A4
464867,2:227880085:A>G,NM_000092.4:c.4217-3072T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.033,0.001,1KG_EAS_AF,COL4A4
464868,2:227880101:C>G,NM_000092.4:c.4217-3088G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.891,\N,\N,COL4A4
464869,2:227880134:G>A,NM_000092.4:c.4217-3121C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.073,0.0008,1KG_AFR_AF,COL4A4
464870,2:227880137:TG>T,NM_000092.4:c.4217-3125del,\N,\N,44/47,Benign,\N,intron_variant,0.849,0.0363,1KG_AFR_AF,COL4A4
464871,2:227880138:G>T,NM_000092.4:c.4217-3125C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.286,0.0023,1KG_AFR_AF,COL4A4
464872,2:227880140:G>A,NM_000092.4:c.4217-3127C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.933,\N,\N,COL4A4
464873,2:227880155:G>C,NM_000092.4:c.4217-3142C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.237,0.001,1KG_EAS_AF,COL4A4
464874,2:227880234:GC>G,NM_000092.4:c.4217-3222del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464875,2:227880285:C>G,NM_000092.4:c.4217-3272G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.772,\N,\N,COL4A4
464876,2:227880375:G>T,NM_000092.4:c.4217-3362C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,14.53,0.0023,1KG_AFR_AF,COL4A4
464877,2:227880379:A>G,NM_000092.4:c.4217-3366T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,15.77,\N,\N,COL4A4
464878,2:227880383:T>C,NM_000092.4:c.4217-3370A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,14.27,0.001,1KG_EAS_AF,COL4A4
464879,2:227880385:T>C,NM_000092.4:c.4217-3372A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,13.71,0.0008,1KG_AFR_AF,COL4A4
464880,2:227880427:G>A,NM_000092.4:c.4217-3414C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.485,0.001,1KG_EUR_AF,COL4A4
464881,2:227880433:AGTG>A,NM_000092.4:c.4217-3423_4217-3421del,\N,\N,44/47,Unknown significance,\N,intron_variant,4.327,\N,\N,COL4A4
464882,2:227880438:TTAAA>T,NM_000092.4:c.4217-3429_4217-3426del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464883,2:227880509:C>T,NM_000092.4:c.4217-3496G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,7.766,\N,\N,COL4A4
464884,2:227880511:C>T,NM_000092.4:c.4217-3498G>A,\N,\N,44/47,Benign,\N,intron_variant,7.969,0.9463,1KG_AFR_AF,COL4A4
464885,2:227880536:T>G,NM_000092.4:c.4217-3523A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.752,0.001,1KG_EAS_AF,COL4A4
464886,2:227880543:A>G,NM_000092.4:c.4217-3530T>C,\N,\N,44/47,Benign,\N,intron_variant,3.111,0.6142,1KG_AFR_AF,COL4A4
464887,2:227880554:A>G,NM_000092.4:c.4217-3541T>C,\N,\N,44/47,Benign,\N,intron_variant,1.715,0.6142,1KG_AFR_AF,COL4A4
464888,2:227880573:G>A,NM_000092.4:c.4217-3560C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.151,\N,\N,COL4A4
464889,2:227880600:C>T,NM_000092.4:c.4217-3587G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.206,0.003,1KG_AFR_AF,COL4A4
464890,2:227880675:T>G,NM_000092.4:c.4217-3662A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1,0.0008,1KG_AFR_AF,COL4A4
464891,2:227880700:A>T,NM_000092.4:c.4217-3687T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.293,0.0008,1KG_AFR_AF,COL4A4
464892,2:227880724:C>T,NM_000092.4:c.4217-3711G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.3,0.001,1KG_EAS_AF,COL4A4
464893,2:227880731:C>G,NM_000092.4:c.4217-3718G>C,\N,\N,44/47,Benign,\N,intron_variant,0.756,0.0098,1KG_AFR_AF,COL4A4
464894,2:227880769:G>A,NM_000092.4:c.4217-3756C>T,\N,\N,44/47,Benign,\N,intron_variant,0.228,0.5532,1KG_SAS_AF,COL4A4
464895,2:227880770:G>C,NM_000092.4:c.4217-3757C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.264,\N,\N,COL4A4
464896,2:227880780:G>A,NM_000092.4:c.4217-3767C>T,\N,\N,44/47,Benign,\N,intron_variant,0.434,0.0139,1KG_EAS_AF,COL4A4
464897,2:227880786:C>G,NM_000092.4:c.4217-3773G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.15,0.002,1KG_EUR_AF,COL4A4
464898,2:227880804:C>T,NM_000092.4:c.4217-3791G>A,\N,\N,44/47,Benign,\N,intron_variant,0.599,0.0363,1KG_AFR_AF,COL4A4
464899,2:227880818:T>C,NM_000092.4:c.4217-3805A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.265,\N,\N,COL4A4
464900,2:227880849:G>A,NM_000092.4:c.4217-3836C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.028,0.0008,1KG_AFR_AF,COL4A4
464901,2:227880895:T>A,NM_000092.4:c.4217-3882A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,5.583,\N,\N,COL4A4
464902,2:227880905:C>G,NM_000092.4:c.4217-3892G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.494,\N,\N,COL4A4
464903,2:227880942:G>A,NM_000092.4:c.4217-3929C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.57,\N,\N,COL4A4
464904,2:227880962:C>G,NM_000092.4:c.4217-3949G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.175,\N,\N,COL4A4
464905,2:227880982:C>T,NM_000092.4:c.4217-3969G>A,\N,\N,44/47,Benign,\N,intron_variant,0.704,0.1301,1KG_AFR_AF,COL4A4
464906,2:227880988:A>C,NM_000092.4:c.4217-3975T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.27,0.003,1KG_AFR_AF,COL4A4
464907,2:227881014:C>A,NM_000092.4:c.4217-4001G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.189,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
464908,2:227881020:C>T,NM_000092.4:c.4217-4007G>A,\N,\N,44/47,Benign,\N,intron_variant,3.533,0.1895,1KG_EAS_AF,COL4A4
464909,2:227881059:G>T,NM_000092.4:c.4217-4046C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.582,0.0031,1KG_SAS_AF,COL4A4
464910,2:227881075:C>T,NM_000092.4:c.4217-4062G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.529,0.001,1KG_EAS_AF,COL4A4
464911,2:227881091:A>G,NM_000092.4:c.4217-4078T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.67,0.002,1KG_EAS_AF,COL4A4
464912,2:227881114:C>T,NM_000092.4:c.4217-4101G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.929,0.001,1KG_SAS_AF,COL4A4
464913,2:227881115:G>A,NM_000092.4:c.4217-4102C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.038,\N,\N,COL4A4
464914,2:227881132:T>C,NM_000092.4:c.4217-4119A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.601,0.0023,1KG_AFR_AF,COL4A4
464915,2:227881143:C>T,NM_000092.4:c.4217-4130G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.75,\N,\N,COL4A4
464916,2:227881166:C>T,NM_000092.4:c.4217-4153G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.865,0.0015,1KG_AFR_AF,COL4A4
464917,2:227881186:C>T,NM_000092.4:c.4217-4173G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.989,\N,\N,COL4A4
464918,2:227881211:G>A,NM_000092.4:c.4217-4198C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.96,0.003,1KG_AFR_AF,COL4A4
464919,2:227881242:G>A,NM_000092.4:c.4217-4229C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.888,0.0023,1KG_AFR_AF,COL4A4
464920,2:227881252:C>T,NM_000092.4:c.4217-4239G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.601,0.0008,1KG_AFR_AF,COL4A4
464921,2:227881290:G>A,NM_000092.4:c.4217-4277C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.822,0.0014,1KG_AMR_AF,COL4A4
464922,2:227881305:G>T,NM_000092.4:c.4217-4292C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.55,\N,\N,COL4A4
464923,2:227881316:G>A,NM_000092.4:c.4217-4303C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.148,\N,\N,COL4A4
464924,2:227881320:T>C,NM_000092.4:c.4217-4307A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,5.859,0.001,1KG_EAS_AF,COL4A4
464925,2:227881357:A>G,NM_000092.4:c.4217-4344T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.612,\N,\N,COL4A4
464926,2:227881357:A>T,NM_000092.4:c.4217-4344T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.716,0.0008,1KG_AFR_AF,COL4A4
464927,2:227881378:A>G,NM_000092.4:c.4217-4365T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.248,\N,\N,COL4A4
464928,2:227881389:G>C,NM_000092.4:c.4217-4376C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.506,0.002,1KG_EUR_AF,COL4A4
464929,2:227881391:G>A,NM_000092.4:c.4217-4378C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.327,0.001,1KG_SAS_AF,COL4A4
464930,2:227881391:G>C,NM_000092.4:c.4217-4378C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.211,\N,\N,COL4A4
464931,2:227881419:G>A,NM_000092.4:c.4217-4406C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.354,0.0008,1KG_AFR_AF,COL4A4
464932,2:227881430:C>A,NM_000092.4:c.4217-4417G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,9.638,\N,\N,COL4A4
464933,2:227881435:C>A,NM_000092.4:c.4217-4422G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,11.28,0.0014,1KG_AMR_AF,COL4A4
464934,2:227881437:C>A,NM_000092.4:c.4217-4424G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,11.83,0.0045,1KG_AFR_AF,COL4A4
464935,2:227881437:C>T,NM_000092.4:c.4217-4424G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,11.89,0.0038,1KG_AFR_AF,COL4A4
464936,2:227881494:GC>G,NM_000092.4:c.4217-4482del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464937,2:227881498:C>A,NM_000092.4:c.4217-4485G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.463,0.001,1KG_EAS_AF,COL4A4
464938,2:227881531:G>A,NM_000092.4:c.4217-4518C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.028,\N,\N,COL4A4
464939,2:227881532:A>C,NM_000092.4:c.4217-4519T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.068,0.001,1KG_EAS_AF,COL4A4
464940,2:227881551:G>A,NM_000092.4:c.4217-4538C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,10.6,0.001,1KG_SAS_AF,COL4A4
464941,2:227881556:G>T,NM_000092.4:c.4217-4543C>A,\N,\N,44/47,Benign,\N,intron_variant,8.617,0.0051,1KG_SAS_AF,COL4A4
464942,2:227881585:G>T,NM_000092.4:c.4217-4572C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.832,\N,\N,COL4A4
464943,2:227881619:G>A,NM_000092.4:c.4217-4606C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.541,0.001,1KG_EUR_AF,COL4A4
464944,2:227881667:G>A,NM_000092.4:c.4217-4654C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.676,0.001,1KG_EAS_AF,COL4A4
464945,2:227881713:G>A,NM_000092.4:c.4217-4700C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.304,0.002,1KG_SAS_AF,COL4A4
464946,2:227881743:G>T,NM_000092.4:c.4217-4730C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.827,\N,\N,COL4A4
464947,2:227881746:C>CCAA,NM_000092.4:c.4217-4736_4217-4734dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464948,2:227881804:T>C,NM_000092.4:c.4217-4791A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.189,0.0008,1KG_AFR_AF,COL4A4
464949,2:227881810:A>G,NM_000092.4:c.4217-4797T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.505,0.0008,1KG_AFR_AF,COL4A4
464950,2:227881839:A>G,NM_000092.4:c.4217-4826T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.146,\N,\N,COL4A4
464951,2:227881846:A>T,NM_000092.4:c.4217-4833T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.863,\N,\N,COL4A4
464952,2:227881869:C>T,NM_000092.4:c.4217-4856G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.909,\N,\N,COL4A4
464953,2:227881876:C>T,NM_000092.4:c.4217-4863G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,6.449,0.001,1KG_SAS_AF,COL4A4
464954,2:227881895:T>C,NM_000092.4:c.4216+4869A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,6.445,\N,\N,COL4A4
464955,2:227881912:A>G,NM_000092.4:c.4216+4852T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.358,0.001,1KG_EAS_AF,COL4A4
464956,2:227881923:G>A,NM_000092.4:c.4216+4841C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.255,\N,\N,COL4A4
464957,2:227881947:C>G,NM_000092.4:c.4216+4817G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,6.104,0.002,1KG_EUR_AF,COL4A4
464958,2:227881952:C>T,NM_000092.4:c.4216+4812G>A,\N,\N,44/47,Benign,\N,intron_variant,3.383,0.0091,1KG_AFR_AF,COL4A4
464959,2:227881953:G>A,NM_000092.4:c.4216+4811C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,5.323,0.0008,1KG_AFR_AF,COL4A4
464960,2:227881961:G>A,NM_000092.4:c.4216+4803C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.934,0.0008,1KG_AFR_AF,COL4A4
464961,2:227882002:C>G,NM_000092.4:c.4216+4762G>C,\N,\N,44/47,Benign,\N,intron_variant,5.005,0.0265,1KG_AFR_AF,COL4A4
464962,2:227882006:C>A,NM_000092.4:c.4216+4758G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.991,\N,\N,COL4A4
464963,2:227882006:C>T,NM_000092.4:c.4216+4758G>A,\N,\N,44/47,Benign,\N,intron_variant,3.939,0.6127,1KG_AFR_AF,COL4A4
464964,2:227882007:G>A,NM_000092.4:c.4216+4757C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.892,\N,\N,COL4A4
464965,2:227882022:A>G,NM_000092.4:c.4216+4742T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,9.068,0.0014,1KG_AMR_AF,COL4A4
464966,2:227882084:C>T,NM_000092.4:c.4216+4680G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.492,\N,\N,COL4A4
464967,2:227882085:G>A,NM_000092.4:c.4216+4679C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.032,\N,\N,COL4A4
464968,2:227882087:A>G,NM_000092.4:c.4216+4677T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.755,0.0008,1KG_AFR_AF,COL4A4
464969,2:227882110:T>G,NM_000092.4:c.4216+4654A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,9.199,\N,\N,COL4A4
464970,2:227882140:A>T,NM_000092.4:c.4216+4624T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.928,0.0008,1KG_AFR_AF,COL4A4
464971,2:227882143:C>G,NM_000092.4:c.4216+4621G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.985,0.0014,1KG_AMR_AF,COL4A4
464972,2:227882163:A>T,NM_000092.4:c.4216+4601T>A,\N,\N,44/47,Benign,\N,intron_variant,2.908,0.0076,1KG_AFR_AF,COL4A4
464973,2:227882169:T>C,NM_000092.4:c.4216+4595A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,3.838,\N,\N,COL4A4
464974,2:227882180:G>A,NM_000092.4:c.4216+4584C>T,\N,\N,44/47,Benign,\N,intron_variant,4.727,0.6127,1KG_AFR_AF,COL4A4
464975,2:227882189:T>G,NM_000092.4:c.4216+4575A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.358,\N,\N,COL4A4
464976,2:227882211:A>G,NM_000092.4:c.4216+4553T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.957,0.0014,1KG_AMR_AF,COL4A4
464977,2:227882223:C>T,NM_000092.4:c.4216+4541G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,7.228,0.0008,1KG_AFR_AF,COL4A4
464978,2:227882237:G>A,NM_000092.4:c.4216+4527C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,15.64,0.0023,1KG_AFR_AF,COL4A4
464979,2:227882243:T>C,NM_000092.4:c.4216+4521A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,14.81,\N,\N,COL4A4
464980,2:227882250:C>T,NM_000092.4:c.4216+4514G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,14.19,0.001,1KG_SAS_AF,COL4A4
464981,2:227882262:CA>C,NM_000092.4:c.4216+4501del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
464982,2:227882304:G>A,NM_000092.4:c.4216+4460C>T,\N,\N,44/47,Benign,\N,intron_variant,0.438,0.0605,1KG_AFR_AF,COL4A4
464983,2:227882337:C>G,NM_000092.4:c.4216+4427G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.364,0.001,1KG_SAS_AF,COL4A4
464984,2:227882343:G>T,NM_000092.4:c.4216+4421C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.394,0.0015,1KG_AFR_AF,COL4A4
464985,2:227882365:G>A,NM_000092.4:c.4216+4399C>T,\N,\N,44/47,Benign,\N,intron_variant,3.224,0.0072,1KG_SAS_AF,COL4A4
464986,2:227882366:T>C,NM_000092.4:c.4216+4398A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.47,\N,\N,COL4A4
464987,2:227882377:T>A,NM_000092.4:c.4216+4387A>T,\N,\N,44/47,Benign,\N,intron_variant,4.806,0.0605,1KG_AFR_AF,COL4A4
464988,2:227882378:C>T,NM_000092.4:c.4216+4386G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.212,0.0008,1KG_AFR_AF,COL4A4
464989,2:227882388:C>T,NM_000092.4:c.4216+4376G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.549,\N,\N,COL4A4
464990,2:227882389:G>A,NM_000092.4:c.4216+4375C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.302,\N,\N,COL4A4
464991,2:227882410:A>G,NM_000092.4:c.4216+4354T>C,\N,\N,44/47,Benign,\N,intron_variant,0.746,0.006,1KG_EAS_AF,COL4A4
464992,2:227882447:G>C,NM_000092.4:c.4216+4317C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.654,\N,\N,COL4A4
464993,2:227882459:C>T,NM_000092.4:c.4216+4305G>A,\N,\N,44/47,Benign,\N,intron_variant,4.846,0.0358,1KG_EUR_AF,COL4A4
464994,2:227882465:C>G,NM_000092.4:c.4216+4299G>C,\N,\N,44/47,Benign,\N,intron_variant,2.674,0.0068,1KG_AFR_AF,COL4A4
464995,2:227882470:G>A,NM_000092.4:c.4216+4294C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.746,0.001,1KG_EAS_AF,COL4A4
464996,2:227882486:T>C,NM_000092.4:c.4216+4278A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.112,\N,\N,COL4A4
464997,2:227882508:T>C,NM_000092.4:c.4216+4256A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.82,0.001,1KG_EAS_AF,COL4A4
464998,2:227882512:T>C,NM_000092.4:c.4216+4252A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.653,0.0014,1KG_AMR_AF,COL4A4
464999,2:227882554:A>C,NM_000092.4:c.4216+4210T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.186,0.0008,1KG_AFR_AF,COL4A4
465000,2:227882559:G>C,NM_000092.4:c.4216+4205C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.089,0.0008,1KG_AFR_AF,COL4A4
465001,2:227882648:T>G,NM_000092.4:c.4216+4116A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.161,\N,\N,COL4A4
465002,2:227882654:G>A,NM_000092.4:c.4216+4110C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.027,0.0008,1KG_AFR_AF,COL4A4
465003,2:227882680:G>A,NM_000092.4:c.4216+4084C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.728,\N,\N,COL4A4
465004,2:227882689:G>A,NM_000092.4:c.4216+4075C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,5.494,0.0008,1KG_AFR_AF,COL4A4
465005,2:227882736:A>G,NM_000092.4:c.4216+4028T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.783,0.0014,1KG_AMR_AF,COL4A4
465006,2:227882789:A>T,NM_000092.4:c.4216+3975T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.338,\N,\N,COL4A4
465007,2:227882857:A>G,NM_000092.4:c.4216+3907T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.32,0.0023,1KG_AFR_AF,COL4A4
465008,2:227882861:C>A,NM_000092.4:c.4216+3903G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.278,\N,\N,COL4A4
465009,2:227882887:C>T,NM_000092.4:c.4216+3877G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.273,0.001,1KG_EAS_AF,COL4A4
465010,2:227882890:G>A,NM_000092.4:c.4216+3874C>T,\N,\N,44/47,Benign,\N,intron_variant,3.152,0.0605,1KG_AFR_AF,COL4A4
465011,2:227882918:C>T,NM_000092.4:c.4216+3846G>A,\N,\N,44/47,Benign,\N,intron_variant,2.295,0.0089,1KG_EUR_AF,COL4A4
465012,2:227882938:A>T,NM_000092.4:c.4216+3826T>A,\N,\N,44/47,Benign,\N,intron_variant,2.564,0.0179,1KG_EUR_AF,COL4A4
465013,2:227882941:C>CTTTTG,NM_000092.4:c.4216+3818_4216+3822dup,\N,\N,44/47,Unknown significance,\N,intron_variant,1.733,\N,\N,COL4A4
465014,2:227882951:G>A,NM_000092.4:c.4216+3813C>T,\N,\N,44/47,Benign,\N,intron_variant,1.503,0.0068,1KG_AFR_AF,COL4A4
465015,2:227882977:C>T,NM_000092.4:c.4216+3787G>A,\N,\N,44/47,Benign,\N,intron_variant,0.314,0.0144,1KG_AMR_AF,COL4A4
465016,2:227882978:G>A,NM_000092.4:c.4216+3786C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.063,\N,\N,COL4A4
465017,2:227882984:C>T,NM_000092.4:c.4216+3780G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.005,0.001,1KG_EAS_AF,COL4A4
465018,2:227882987:G>A,NM_000092.4:c.4216+3777C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.008,0.001,1KG_SAS_AF,COL4A4
465019,2:227882997:G>T,NM_000092.4:c.4216+3767C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.033,\N,\N,COL4A4
465020,2:227883039:T>G,NM_000092.4:c.4216+3725A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,5.465,0.001,1KG_SAS_AF,COL4A4
465021,2:227883063:A>G,NM_000092.4:c.4216+3701T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.22,\N,\N,COL4A4
465022,2:227883090:G>A,NM_000092.4:c.4216+3674C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.978,0.0029,1KG_AMR_AF,COL4A4
465023,2:227883103:A>G,NM_000092.4:c.4216+3661T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.583,0.001,1KG_EAS_AF,COL4A4
465024,2:227883121:AC>A,NM_000092.4:c.4216+3642del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465025,2:227883145:C>T,NM_000092.4:c.4216+3619G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.368,0.003,1KG_EAS_AF,COL4A4
465026,2:227883192:G>A,NM_000092.4:c.4216+3572C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.22,\N,\N,COL4A4
465027,2:227883209:G>A,NM_000092.4:c.4216+3555C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.054,\N,\N,COL4A4
465028,2:227883217:G>C,NM_000092.4:c.4216+3547C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,5.009,\N,\N,COL4A4
465029,2:227883224:G>A,NM_000092.4:c.4216+3540C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,11.25,\N,\N,COL4A4
465030,2:227883225:T>A,NM_000092.4:c.4216+3539A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,12.17,\N,\N,COL4A4
465031,2:227883237:A>T,NM_000092.4:c.4216+3527T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,8.268,0.001,1KG_SAS_AF,COL4A4
465032,2:227883255:A>G,NM_000092.4:c.4216+3509T>C,\N,\N,44/47,Benign,\N,intron_variant,14.02,0.0416,1KG_AFR_AF,COL4A4
465033,2:227883261:G>T,NM_000092.4:c.4216+3503C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,5.537,\N,\N,COL4A4
465034,2:227883298:A>C,NM_000092.4:c.4216+3466T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.129,0.002,1KG_EAS_AF,COL4A4
465035,2:227883300:G>A,NM_000092.4:c.4216+3464C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,6.656,\N,\N,COL4A4
465036,2:227883313:C>A,NM_000092.4:c.4216+3451G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,5.085,\N,\N,COL4A4
465037,2:227883357:C>T,NM_000092.4:c.4216+3407G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.572,\N,\N,COL4A4
465038,2:227883358:G>A,NM_000092.4:c.4216+3406C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.563,0.0014,1KG_AMR_AF,COL4A4
465039,2:227883373:C>T,NM_000092.4:c.4216+3391G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.174,\N,\N,COL4A4
465040,2:227883380:G>T,NM_000092.4:c.4216+3384C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.603,\N,\N,COL4A4
465041,2:227883388:TA>T,NM_000092.4:c.4216+3375del,\N,\N,44/47,Benign,\N,intron_variant,0.235,0.0086,1KG_AMR_AF,COL4A4
465042,2:227883399:A>G,NM_000092.4:c.4216+3365T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.808,\N,\N,COL4A4
465043,2:227883425:G>A,NM_000092.4:c.4216+3339C>T,\N,\N,44/47,Benign,\N,intron_variant,2.408,0.0083,1KG_AFR_AF,COL4A4
465044,2:227883515:C>T,NM_000092.4:c.4216+3249G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.253,0.0023,1KG_AFR_AF,COL4A4
465045,2:227883516:G>A,NM_000092.4:c.4216+3248C>T,\N,\N,44/47,Benign,\N,intron_variant,1.119,0.0265,1KG_AFR_AF,COL4A4
465046,2:227883521:G>A,NM_000092.4:c.4216+3243C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.386,\N,\N,COL4A4
465047,2:227883553:A>C,NM_000092.4:c.4216+3211T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.531,0.0029,1KG_AMR_AF,COL4A4
465048,2:227883593:A>T,NM_000092.4:c.4216+3171T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.008,0.0015,1KG_AFR_AF,COL4A4
465049,2:227883616:A>G,NM_000092.4:c.4216+3148T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,6.697,0.002,1KG_SAS_AF,COL4A4
465050,2:227883648:C>G,NM_000092.4:c.4216+3116G>C,\N,\N,44/47,Benign,\N,intron_variant,3.191,0.5542,1KG_SAS_AF,COL4A4
465051,2:227883662:C>T,NM_000092.4:c.4216+3102G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.933,\N,\N,COL4A4
465052,2:227883664:A>G,NM_000092.4:c.4216+3100T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.537,0.0014,1KG_AMR_AF,COL4A4
465053,2:227883681:A>C,NM_000092.4:c.4216+3083T>G,\N,\N,44/47,Benign,\N,intron_variant,0.918,0.171,1KG_AFR_AF,COL4A4
465054,2:227883685:T>C,NM_000092.4:c.4216+3079A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.598,0.002,1KG_EUR_AF,COL4A4
465055,2:227883704:T>C,NM_000092.4:c.4216+3060A>G,\N,\N,44/47,Benign,\N,intron_variant,3.322,0.1905,1KG_EAS_AF,COL4A4
465056,2:227883723:C>A,NM_000092.4:c.4216+3041G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,11.25,\N,\N,COL4A4
465057,2:227883760:C>A,NM_000092.4:c.4216+3004G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.851,0.0014,1KG_AMR_AF,COL4A4
465058,2:227883766:C>T,NM_000092.4:c.4216+2998G>A,\N,\N,44/47,Benign,\N,intron_variant,4.631,0.0635,1KG_AFR_AF,COL4A4
465059,2:227883770:C>T,NM_000092.4:c.4216+2994G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,3.464,0.001,1KG_SAS_AF,COL4A4
465060,2:227883788:A>T,NM_000092.4:c.4216+2976T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.887,0.001,1KG_SAS_AF,COL4A4
465061,2:227883814:A>G,NM_000092.4:c.4216+2950T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,5.902,0.0015,1KG_AFR_AF,COL4A4
465062,2:227883863:A>T,NM_000092.4:c.4216+2901T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.409,\N,\N,COL4A4
465063,2:227883881:T>TC,NM_000092.4:c.4216+2882dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465064,2:227883891:A>G,NM_000092.4:c.4216+2873T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.322,0.0043,1KG_AMR_AF,COL4A4
465065,2:227883899:G>A,NM_000092.4:c.4216+2865C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.454,0.003,1KG_EAS_AF,COL4A4
465066,2:227883910:G>A,NM_000092.4:c.4216+2854C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.948,\N,\N,COL4A4
465067,2:227883910:G>C,NM_000092.4:c.4216+2854C>G,\N,\N,44/47,Benign,\N,intron_variant,0.353,0.6127,1KG_AFR_AF,COL4A4
465068,2:227883951:C>A,NM_000092.4:c.4216+2813G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,6.519,0.0008,1KG_AFR_AF,COL4A4
465069,2:227883967:C>T,NM_000092.4:c.4216+2797G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.281,0.001,1KG_EUR_AF,COL4A4
465070,2:227883980:C>T,NM_000092.4:c.4216+2784G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.377,\N,\N,COL4A4
465071,2:227883981:G>A,NM_000092.4:c.4216+2783C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.39,\N,\N,COL4A4
465072,2:227883989:C>T,NM_000092.4:c.4216+2775G>A,\N,\N,44/47,Benign,\N,intron_variant,2.915,0.0149,1KG_EAS_AF,COL4A4
465073,2:227883994:C>G,NM_000092.4:c.4216+2770G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,5.248,\N,\N,COL4A4
465074,2:227884013:A>G,NM_000092.4:c.4216+2751T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,6.078,0.001,1KG_EAS_AF,COL4A4
465075,2:227884029:G>A,NM_000092.4:c.4216+2735C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.103,\N,\N,COL4A4
465076,2:227884046:G>A,NM_000092.4:c.4216+2718C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.998,0.0015,1KG_AFR_AF,COL4A4
465077,2:227884049:T>C,NM_000092.4:c.4216+2715A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.515,0.001,1KG_EUR_AF,COL4A4
465078,2:227884089:T>A,NM_000092.4:c.4216+2675A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,9.635,\N,\N,COL4A4
465079,2:227884105:C>T,NM_000092.4:c.4216+2659G>A,\N,\N,44/47,Benign,\N,intron_variant,4.358,0.0072,1KG_AMR_AF,COL4A4
465080,2:227884106:G>A,NM_000092.4:c.4216+2658C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.867,0.0014,1KG_AMR_AF,COL4A4
465081,2:227884118:G>A,NM_000092.4:c.4216+2646C>T,\N,\N,44/47,Benign,\N,intron_variant,2.722,0.5532,1KG_SAS_AF,COL4A4
465082,2:227884134:C>T,NM_000092.4:c.4216+2630G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.492,\N,\N,COL4A4
465083,2:227884263:C>T,NM_000092.4:c.4216+2501G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,5.126,0.0029,1KG_AMR_AF,COL4A4
465084,2:227884312:T>C,NM_000092.4:c.4216+2452A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.54,\N,\N,COL4A4
465085,2:227884319:C>T,NM_000092.4:c.4216+2445G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.007,0.001,1KG_EAS_AF,COL4A4
465086,2:227884325:A>G,NM_000092.4:c.4216+2439T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.455,\N,\N,COL4A4
465087,2:227884355:C>T,NM_000092.4:c.4216+2409G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.619,\N,\N,COL4A4
465088,2:227884363:C>T,NM_000092.4:c.4216+2401G>A,\N,\N,44/47,Benign,\N,intron_variant,4.354,0.0051,1KG_SAS_AF,COL4A4
465089,2:227884367:G>C,NM_000092.4:c.4216+2397C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.018,\N,\N,COL4A4
465090,2:227884372:G>C,NM_000092.4:c.4216+2392C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.596,\N,\N,COL4A4
465091,2:227884382:G>T,NM_000092.4:c.4216+2382C>A,\N,\N,44/47,Benign,\N,intron_variant,0.063,0.0083,1KG_AFR_AF,COL4A4
465092,2:227884392:G>A,NM_000092.4:c.4216+2372C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.03,0.001,1KG_EAS_AF,COL4A4
465093,2:227884405:C>T,NM_000092.4:c.4216+2359G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.183,0.0008,1KG_AFR_AF,COL4A4
465094,2:227884406:G>A,NM_000092.4:c.4216+2358C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.473,0.0015,1KG_AFR_AF,COL4A4
465095,2:227884415:C>T,NM_000092.4:c.4216+2349G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.869,0.0008,1KG_AFR_AF,COL4A4
465096,2:227884421:T>G,NM_000092.4:c.4216+2343A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.232,0.001,1KG_SAS_AF,COL4A4
465097,2:227884428:G>A,NM_000092.4:c.4216+2336C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.783,0.001,1KG_SAS_AF,COL4A4
465098,2:227884438:C>CA,NM_000092.4:c.4216+2325dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465099,2:227884460:T>G,NM_000092.4:c.4216+2304A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.49,\N,\N,COL4A4
465100,2:227884486:C>T,NM_000092.4:c.4216+2278G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.647,0.0015,1KG_AFR_AF,COL4A4
465101,2:227884487:G>A,NM_000092.4:c.4216+2277C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.929,0.0029,1KG_AMR_AF,COL4A4
465102,2:227884508:T>C,NM_000092.4:c.4216+2256A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.632,\N,\N,COL4A4
465103,2:227884524:C>CA,NM_000092.4:c.4216+2239dup,\N,\N,44/47,Benign,\N,intron_variant,1.553,0.0089,1KG_EUR_AF,COL4A4
465104,2:227884524:C>T,NM_000092.4:c.4216+2240G>A,\N,\N,44/47,Benign,\N,intron_variant,1.757,0.0628,1KG_AFR_AF,COL4A4
465105,2:227884540:C>T,NM_000092.4:c.4216+2224G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.147,\N,\N,COL4A4
465106,2:227884541:G>T,NM_000092.4:c.4216+2223C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.24,\N,\N,COL4A4
465107,2:227884571:C>T,NM_000092.4:c.4216+2193G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.584,0.0008,1KG_AFR_AF,COL4A4
465108,2:227884574:G>A,NM_000092.4:c.4216+2190C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.71,\N,\N,COL4A4
465109,2:227884604:AACT>A,NM_000092.4:c.4216+2157_4216+2159del,\N,\N,44/47,Unknown significance,\N,intron_variant,11.9,0.004,1KG_EUR_AF,COL4A4
465110,2:227884645:A>T,NM_000092.4:c.4216+2119T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.699,0.001,1KG_EAS_AF,COL4A4
465111,2:227884669:C>T,NM_000092.4:c.4216+2095G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.955,0.001,1KG_SAS_AF,COL4A4
465112,2:227884671:C>T,NM_000092.4:c.4216+2093G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.397,\N,\N,COL4A4
465113,2:227884683:T>C,NM_000092.4:c.4216+2081A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.857,0.001,1KG_EUR_AF,COL4A4
465114,2:227884722:A>G,NM_000092.4:c.4216+2042T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,8.974,0.001,1KG_EAS_AF,COL4A4
465115,2:227884733:T>G,NM_000092.4:c.4216+2031A>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.327,0.002,1KG_SAS_AF,COL4A4
465116,2:227884740:T>A,NM_000092.4:c.4216+2024A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.965,0.001,1KG_EAS_AF,COL4A4
465117,2:227884744:C>G,NM_000092.4:c.4216+2020G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.272,0.0023,1KG_AFR_AF,COL4A4
465118,2:227884749:G>A,NM_000092.4:c.4216+2015C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.35,\N,\N,COL4A4
465119,2:227884796:T>C,NM_000092.4:c.4216+1968A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.656,0.0015,1KG_AFR_AF,COL4A4
465120,2:227884815:C>G,NM_000092.4:c.4216+1949G>C,\N,\N,44/47,Benign,\N,intron_variant,1.527,0.0076,1KG_AFR_AF,COL4A4
465121,2:227884893:G>C,NM_000092.4:c.4216+1871C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.261,\N,\N,COL4A4
465122,2:227884905:G>A,NM_000092.4:c.4216+1859C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.268,0.001,1KG_EUR_AF,COL4A4
465123,2:227884917:G>A,NM_000092.4:c.4216+1847C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.399,0.001,1KG_SAS_AF,COL4A4
465124,2:227884919:A>C,NM_000092.4:c.4216+1845T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,6.543,\N,\N,COL4A4
465125,2:227884943:C>A,NM_000092.4:c.4216+1821G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.569,0.001,1KG_EUR_AF,COL4A4
465126,2:227884968:T>C,NM_000092.4:c.4216+1796A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.557,\N,\N,COL4A4
465127,2:227884970:C>CA,NM_000092.4:c.4216+1793dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465128,2:227884970:C>CACA,NM_000092.4:c.4216+1791_4216+1793dup,\N,\N,44/47,Benign,\N,intron_variant,2.34,0.7315,1KG_AFR_AF,COL4A4
465129,2:227884971:A>AAC,NM_000092.4:c.4216+1792_4216+1793insGT,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465130,2:227884972:C>CACA,NM_000092.4:c.4216+1791_4216+1792insTGT,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465131,2:227884972:C>CCAA,NM_000092.4:c.4216+1791_4216+1792insTTG,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465132,2:227885015:C>A,NM_000092.4:c.4216+1749G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.634,0.0014,1KG_AMR_AF,COL4A4
465133,2:227885027:C>CTTTTT,NM_000092.4:c.4216+1736_4216+1737insAAAAA,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465134,2:227885058:G>A,NM_000092.4:c.4216+1706C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.845,0.001,1KG_EUR_AF,COL4A4
465135,2:227885067:A>G,NM_000092.4:c.4216+1697T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.199,\N,\N,COL4A4
465136,2:227885094:C>T,NM_000092.4:c.4216+1670G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.578,0.0014,1KG_AMR_AF,COL4A4
465137,2:227885095:G>A,NM_000092.4:c.4216+1669C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.663,\N,\N,COL4A4
465138,2:227885099:C>T,NM_000092.4:c.4216+1665G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.792,\N,\N,COL4A4
465139,2:227885102:TAAAA>T,NM_000092.4:c.4216+1658_4216+1661del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465140,2:227885103:A>G,NM_000092.4:c.4216+1661T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,3.335,0.0014,1KG_AMR_AF,COL4A4
465141,2:227885108:A>G,NM_000092.4:c.4216+1656T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,7.268,0.0043,1KG_AMR_AF,COL4A4
465142,2:227885139:G>A,NM_000092.4:c.4216+1625C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,8.754,\N,\N,COL4A4
465143,2:227885149:A>G,NM_000092.4:c.4216+1615T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,13.21,\N,\N,COL4A4
465144,2:227885178:G>A,NM_000092.4:c.4216+1586C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,5.147,0.001,1KG_EAS_AF,COL4A4
465145,2:227885231:A>C,NM_000092.4:c.4216+1533T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.486,0.001,1KG_EAS_AF,COL4A4
465146,2:227885236:G>A,NM_000092.4:c.4216+1528C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.338,0.001,1KG_SAS_AF,COL4A4
465147,2:227885259:A>T,NM_000092.4:c.4216+1505T>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.385,0.001,1KG_SAS_AF,COL4A4
465148,2:227885269:G>T,NM_000092.4:c.4216+1495C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.241,0.001,1KG_EUR_AF,COL4A4
465149,2:227885278:C>T,NM_000092.4:c.4216+1486G>A,\N,\N,44/47,Benign,\N,intron_variant,2.523,0.0136,1KG_AFR_AF,COL4A4
465150,2:227885326:G>A,NM_000092.4:c.4216+1438C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.252,\N,\N,COL4A4
465151,2:227885386:G>A,NM_000092.4:c.4216+1378C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,3.58,0.002,1KG_SAS_AF,COL4A4
465152,2:227885386:G>GA,NM_000092.4:c.4216+1377dup,\N,\N,44/47,Unknown significance,\N,intron_variant,1.596,\N,\N,COL4A4
465153,2:227885387:A>AG,NM_000092.4:c.4216+1376dup,\N,\N,44/47,Benign,\N,intron_variant,0.058,0.087,1KG_AFR_AF,COL4A4
465154,2:227885389:G>C,NM_000092.4:c.4216+1375C>G,\N,\N,44/47,Benign,\N,intron_variant,0.416,0.0089,1KG_EAS_AF,COL4A4
465155,2:227885391:G>A,NM_000092.4:c.4216+1373C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.088,0.0014,1KG_AMR_AF,COL4A4
465156,2:227885393:G>C,NM_000092.4:c.4216+1371C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.251,\N,\N,COL4A4
465157,2:227885393:G>T,NM_000092.4:c.4216+1371C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.515,0.002,1KG_SAS_AF,COL4A4
465158,2:227885394:G>A,NM_000092.4:c.4216+1370C>T,\N,\N,44/47,Benign,\N,intron_variant,3.19,0.0061,1KG_AFR_AF,COL4A4
465159,2:227885412:T>A,NM_000092.4:c.4216+1352A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,1.623,\N,\N,COL4A4
465160,2:227885433:G>A,NM_000092.4:c.4216+1331C>T,\N,\N,44/47,Benign,\N,intron_variant,2.602,0.0061,1KG_AFR_AF,COL4A4
465161,2:227885443:A>C,NM_000092.4:c.4216+1321T>G,\N,\N,44/47,Unknown significance,\N,intron_variant,4.119,\N,\N,COL4A4
465162,2:227885460:A>G,NM_000092.4:c.4216+1304T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,7.132,0.001,1KG_EAS_AF,COL4A4
465163,2:227885473:A>G,NM_000092.4:c.4216+1291T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.017,0.0008,1KG_AFR_AF,COL4A4
465164,2:227885484:G>A,NM_000092.4:c.4216+1280C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,10.39,\N,\N,COL4A4
465165,2:227885489:C>A,NM_000092.4:c.4216+1275G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,8.956,\N,\N,COL4A4
465166,2:227885520:C>A,NM_000092.4:c.4216+1244G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.908,0.003,1KG_EAS_AF,COL4A4
465167,2:227885524:A>G,NM_000092.4:c.4216+1240T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.686,0.001,1KG_SAS_AF,COL4A4
465168,2:227885541:C>T,NM_000092.4:c.4216+1223G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,4.685,0.001,1KG_SAS_AF,COL4A4
465169,2:227885555:A>T,NM_000092.4:c.4216+1209T>A,\N,\N,44/47,Benign,\N,intron_variant,1.809,0.0072,1KG_SAS_AF,COL4A4
465170,2:227885580:C>T,NM_000092.4:c.4216+1184G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,5.19,\N,\N,COL4A4
465171,2:227885581:G>A,NM_000092.4:c.4216+1183C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,7.431,\N,\N,COL4A4
465172,2:227885589:C>CT,NM_000092.4:c.4216+1174dup,\N,\N,44/47,Unknown significance,\N,intron_variant,9.917,\N,\N,COL4A4
465173,2:227885589:C>CTTCTTTTCT,NM_000092.4:c.4216+1174_4216+1175insAGAAAAGAA,\N,\N,44/47,Unknown significance,\N,intron_variant,9.126,\N,\N,COL4A4
465174,2:227885589:C>CTTTTTTTTT,NM_000092.4:c.4216+1174_4216+1175insAAAAAAAAA,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465175,2:227885590:T>TC,NM_000092.4:c.4216+1173_4216+1174insG,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465176,2:227885591:T>TC,NM_000092.4:c.4216+1172_4216+1173insG,\N,\N,44/47,Unknown significance,\N,intron_variant,7.228,\N,\N,COL4A4
465177,2:227885592:T>C,NM_000092.4:c.4216+1172A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,7.206,\N,\N,COL4A4
465178,2:227885596:C>CTTTTTTTT,NM_000092.4:c.4216+1160_4216+1167dup,\N,\N,44/47,Unknown significance,\N,intron_variant,2.33,\N,\N,COL4A4
465179,2:227885596:C>T,NM_000092.4:c.4216+1168G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.131,\N,\N,COL4A4
465180,2:227885596:CT>C,NM_000092.4:c.4216+1167del,\N,\N,44/47,Benign,\N,intron_variant,3.624,0.0427,1KG_EUR_AF,COL4A4
465181,2:227885597:T>C,NM_000092.4:c.4216+1167A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.54,\N,\N,COL4A4
465182,2:227885625:C>T,NM_000092.4:c.4216+1139G>A,\N,\N,44/47,Benign,\N,intron_variant,2.025,0.121,1KG_AFR_AF,COL4A4
465183,2:227885626:G>A,NM_000092.4:c.4216+1138C>T,\N,\N,44/47,Benign,\N,intron_variant,0.111,0.0356,1KG_AFR_AF,COL4A4
465184,2:227885675:C>T,NM_000092.4:c.4216+1089G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,0.428,0.0014,1KG_AMR_AF,COL4A4
465185,2:227885676:C>A,NM_000092.4:c.4216+1088G>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.748,0.001,1KG_EUR_AF,COL4A4
465186,2:227885685:G>A,NM_000092.4:c.4216+1079C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.424,\N,\N,COL4A4
465187,2:227885730:C>T,NM_000092.4:c.4216+1034G>A,\N,\N,44/47,Benign,\N,intron_variant,0.342,0.0061,1KG_SAS_AF,COL4A4
465188,2:227885731:G>A,NM_000092.4:c.4216+1033C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.342,0.0023,1KG_AFR_AF,COL4A4
465189,2:227885789:G>T,NM_000092.4:c.4216+975C>A,\N,\N,44/47,Benign,\N,intron_variant,2.165,0.0076,1KG_AFR_AF,COL4A4
465190,2:227885847:TGCTGG>T,NM_000092.4:c.4216+912_4216+916del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465191,2:227885863:G>A,NM_000092.4:c.4216+901C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,6.527,\N,\N,COL4A4
465192,2:227885875:G>A,NM_000092.4:c.4216+889C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.178,0.0014,1KG_AMR_AF,COL4A4
465193,2:227885895:T>C,NM_000092.4:c.4216+869A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.473,\N,\N,COL4A4
465194,2:227885904:G>C,NM_000092.4:c.4216+860C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,0.367,\N,\N,COL4A4
465195,2:227885914:TA>T,NM_000092.4:c.4216+849del,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465196,2:227885928:C>T,NM_000092.4:c.4216+836G>A,\N,\N,44/47,Benign,\N,intron_variant,1.113,0.0061,1KG_SAS_AF,COL4A4
465197,2:227885961:C>T,NM_000092.4:c.4216+803G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.716,0.001,1KG_EUR_AF,COL4A4
465198,2:227885994:C>T,NM_000092.4:c.4216+770G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.744,0.002,1KG_SAS_AF,COL4A4
465199,2:227886013:C>T,NM_000092.4:c.4216+751G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.138,0.002,1KG_SAS_AF,COL4A4
465200,2:227886026:C>T,NM_000092.4:c.4216+738G>A,\N,\N,44/47,Benign,\N,intron_variant,4.342,0.1125,1KG_SAS_AF,COL4A4
465201,2:227886029:A>AT,NM_000092.4:c.4216+734dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465202,2:227886065:C>T,NM_000092.4:c.4216+699G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,5.812,\N,\N,COL4A4
465203,2:227886072:C>T,NM_000092.4:c.4216+692G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.132,0.001,1KG_EAS_AF,COL4A4
465204,2:227886075:G>A,NM_000092.4:c.4216+689C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.442,0.001,1KG_SAS_AF,COL4A4
465205,2:227886079:T>C,NM_000092.4:c.4216+685A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,4.107,0.002,1KG_EUR_AF,COL4A4
465206,2:227886086:G>A,NM_000092.4:c.4216+678C>T,\N,\N,44/47,Benign,\N,intron_variant,2.717,0.0605,1KG_AFR_AF,COL4A4
465207,2:227886116:A>G,NM_000092.4:c.4216+648T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.247,0.003,1KG_AFR_AF,COL4A4
465208,2:227886131:AGGCAGCTATTAATG>A,NM_000092.4:c.4216+619_4216+632del,\N,\N,44/47,Unknown significance,\N,intron_variant,11.57,0.0031,1KG_SAS_AF,COL4A4
465209,2:227886144:T>C,NM_000092.4:c.4216+620A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,9.366,0.0014,1KG_AMR_AF,COL4A4
465210,2:227886284:G>C,NM_000092.4:c.4216+480C>G,\N,\N,44/47,Unknown significance,\N,intron_variant,7.645,0.001,1KG_EUR_AF,COL4A4
465211,2:227886324:G>A,NM_000092.4:c.4216+440C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.175,0.001,1KG_EUR_AF,COL4A4
465212,2:227886364:A>AC,NM_000092.4:c.4216+399dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465213,2:227886366:C>T,NM_000092.4:c.4216+398G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,2.562,0.001,1KG_EAS_AF,COL4A4
465214,2:227886402:G>A,NM_000092.4:c.4216+362C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.556,\N,\N,COL4A4
465215,2:227886413:C>G,NM_000092.4:c.4216+351G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.81,\N,\N,COL4A4
465216,2:227886458:G>A,NM_000092.4:c.4216+306C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,0.546,0.001,1KG_SAS_AF,COL4A4
465217,2:227886464:C>T,NM_000092.4:c.4216+300G>A,\N,\N,44/47,Benign,\N,intron_variant,1.582,0.0219,1KG_AFR_AF,COL4A4
465218,2:227886490:A>G,NM_000092.4:c.4216+274T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.715,\N,\N,COL4A4
465219,2:227886509:C>G,NM_000092.4:c.4216+255G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,2.933,0.001,1KG_EAS_AF,COL4A4
465220,2:227886523:AG>A,NM_000092.4:c.4216+240del,\N,\N,44/47,Benign,\N,intron_variant,1.378,0.005,1KG_EAS_AF,COL4A4
465221,2:227886541:A>AAAAAT,NM_000092.4:c.4216+218_4216+222dup,\N,\N,44/47,Benign,\N,intron_variant,1.459,0.5481,1KG_SAS_AF,COL4A4
465222,2:227886541:AAAAATAAAAT>A,NM_000092.4:c.4216+213_4216+222del,\N,\N,44/47,Unknown significance,\N,intron_variant,9.1,\N,\N,COL4A4
465223,2:227886546:T>TTAAAA,NM_000092.4:c.4216+217_4216+218insTTTTA,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465224,2:227886572:A>G,NM_000092.4:c.4216+192T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,4.143,0.0014,1KG_AMR_AF,COL4A4
465225,2:227886582:T>C,NM_000092.4:c.4216+182A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,2.92,0.001,1KG_EAS_AF,COL4A4
465226,2:227886633:T>C,NM_000092.4:c.4216+131A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.234,0.0008,1KG_AFR_AF,COL4A4
465227,2:227886636:C>G,NM_000092.4:c.4216+128G>C,\N,\N,44/47,Unknown significance,\N,intron_variant,0.445,0.0008,1KG_AFR_AF,COL4A4
465228,2:227886642:G>GA,NM_000092.4:c.4216+121dup,\N,\N,44/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465229,2:227886646:G>A,NM_000092.4:c.4216+118C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.43,\N,\N,COL4A4
465230,2:227886654:T>A,NM_000092.4:c.4216+110A>T,\N,\N,44/47,Unknown significance,\N,intron_variant,4.209,0.001,1KG_SAS_AF,COL4A4
465231,2:227886708:A>G,NM_000092.4:c.4216+56T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,6.007,\N,\N,COL4A4
465232,2:227886719:G>T,NM_000092.4:c.4216+45C>A,\N,\N,44/47,Unknown significance,\N,intron_variant,6.353,0.000015169,EXAC_NFE_AF,COL4A4
465233,2:227886726:AT>A,NM_000092.4:c.4216+37del,\N,\N,44/47,Unknown significance,\N,intron_variant,1.456,0.000345781,EXAC_AMR_AF,COL4A4
465234,2:227886730:T>C,NM_000092.4:c.4216+34A>G,\N,\N,44/47,Unknown significance,\N,intron_variant,1.667,0.001,1KG_EUR_AF,COL4A4
465235,2:227886748:A>G,NM_000092.4:c.4216+16T>C,\N,\N,44/47,Unknown significance,\N,intron_variant,1.832,0.0000864304,EXAC_AMR_AF,COL4A4
465236,2:227886753:G>A,NM_000092.4:c.4216+11C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.115,0.004,1KG_EAS_AF,COL4A4
465237,2:227886754:C>T,NM_000092.4:c.4216+10G>A,\N,\N,44/47,Unknown significance,\N,intron_variant,1.06,0.0000301896,EXAC_NFE_AF,COL4A4
465238,2:227886755:G>A,NM_000092.4:c.4216+9C>T,\N,\N,44/47,Unknown significance,\N,intron_variant,2.144,\N,\N,COL4A4
465239,2:227886756:G>C,NM_000092.4:c.4216+8C>G,\N,\N,44/47,Unknown significance,\N,splice_region_variant&intron_variant,0.485,0.000121862,EVS_EA_AF,COL4A4
465240,2:227886757:C>T,NM_000092.4:c.4216+7G>A,\N,\N,44/47,Unknown significance,\N,splice_region_variant&intron_variant,2.374,0.000151194,EXAC_FIN_AF,COL4A4
465241,2:227886760:A>G,NM_000092.4:c.4216+4T>C,\N,\N,44/47,Unknown significance,\N,splice_region_variant&intron_variant,0.805,0.000121803,EVS_EA_AF,COL4A4
465242,2:227886760:A>T,NM_000092.4:c.4216+4T>A,\N,\N,44/47,Unknown significance,\N,splice_region_variant&intron_variant,0.318,0.0000150698,EXAC_NFE_AF,COL4A4
465243,2:227886771:T>TG,NM_000092.4:c.4208dup,NP_000083.3:p.Gly1404ArgfsTer29,44/48,\N,Unknown significance,\N,frameshift_variant,35,0.0000605767,EXAC_SAS_AF,COL4A4
465244,2:227886773:A>G,NM_000092.4:c.4207T>C,NP_000083.3:p.Ser1403Pro,44/48,\N,Benign,\N,missense_variant,20.6,0.6891,1KG_AFR_AF,COL4A4
465245,2:227886775:G>A,NM_000092.4:c.4205C>T,NP_000083.3:p.Pro1402Leu,44/48,\N,Likely benign,\N,missense_variant,19.66,0.000181752,EXAC_SAS_AF,COL4A4
465246,2:227886775:G>C,NM_000092.4:c.4205C>G,NP_000083.3:p.Pro1402Arg,44/48,\N,Unknown significance,\N,missense_variant,14.71,0.000151194,EXAC_FIN_AF,COL4A4
465247,2:227886778:CCT>C,NM_000092.4:c.4200_4201del,NP_000083.3:p.Gly1401ProfsTer31,44/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
465248,2:227886781:C>T,NM_000092.4:c.4199G>A,NP_000083.3:p.Arg1400Lys,44/48,\N,Likely benign,\N,missense_variant,14.25,0.000242365,EXAC_SAS_AF,COL4A4
465249,2:227886782:T>C,NM_000092.4:c.4198A>G,NP_000083.3:p.Arg1400Gly,44/48,\N,Unknown significance,\N,missense_variant,17.65,0.0000150213,EXAC_NFE_AF,COL4A4
465250,2:227886785:T>A,NM_000092.4:c.4195A>T,NP_000083.3:p.Met1399Leu,44/48,\N,Benign,\N,missense_variant,5.868,0.0109,1KG_EAS_AF,COL4A4
465251,2:227886786:T>G,NM_000092.4:c.4194A>C,NP_000083.3:p.Gly1398=,44/48,\N,Unknown significance,\N,synonymous_variant,5.331,\N,\N,COL4A4
465252,2:227886787:C>A,NM_000092.4:c.4193G>T,NP_000083.3:p.Gly1398Val,44/48,\N,Unknown significance,\N,missense_variant,23.7,0.001,1KG_EAS_AF,COL4A4
465253,2:227886787:C>G,NM_000092.4:c.4193G>C,NP_000083.3:p.Gly1398Ala,44/48,\N,Unknown significance,\N,missense_variant,15.43,0.0000150227,EXAC_NFE_AF,COL4A4
465254,2:227886789:A>G,NM_000092.4:c.4191T>C,NP_000083.3:p.Pro1397=,44/48,\N,Unknown significance,\N,synonymous_variant,1.401,0.0008,1KG_AFR_AF,COL4A4
465255,2:227886792:G>A,NM_000092.4:c.4188C>T,NP_000083.3:p.Leu1396=,44/48,\N,Unknown significance,\N,synonymous_variant,7.239,\N,\N,COL4A4
465256,2:227886794:G>T,NM_000092.4:c.4186C>A,NP_000083.3:p.Leu1396Ile,44/48,\N,Likely benign,\N,missense_variant,9.911,0.000116036,EXAC_EAS_AF,COL4A4
465257,2:227886795:C>A,NM_000092.4:c.4185G>T,NP_000083.3:p.Gly1395=,44/48,\N,Unknown significance,\N,synonymous_variant,14.62,0.0000605987,EXAC_SAS_AF,COL4A4
465258,2:227886795:C>T,NM_000092.4:c.4185G>A,NP_000083.3:p.Gly1395=,44/48,\N,Unknown significance,\N,synonymous_variant,10.71,0.000755972,EXAC_FIN_AF,COL4A4
465259,2:227886804:T>G,NM_000092.4:c.4176A>C,NP_000083.3:p.Gly1392=,44/48,\N,Unknown significance,\N,synonymous_variant,8.18,0.000181796,EXAC_SAS_AF,COL4A4
465260,2:227886813:TCCTC>T,NM_000092.4:c.4163_4166del,NP_000083.3:p.Arg1388AsnfsTer11,44/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
465261,2:227886814:C>T,NM_000092.4:c.4166G>A,NP_000083.3:p.Gly1389Glu,44/48,\N,Unknown significance,\N,missense_variant,25.1,0.000116144,EXAC_EAS_AF,COL4A4
465262,2:227886815:C>T,NM_000092.4:c.4165G>A,NP_000083.3:p.Gly1389Arg,44/48,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,COL4A4
465263,2:227886828:C>A,NM_000092.4:c.4152G>T,NP_000083.3:p.Ala1384=,44/48,\N,Unknown significance,\N,synonymous_variant,15.6,0.00025974,EXAC_AMR_AF,COL4A4
465264,2:227886828:C>G,NM_000092.4:c.4152G>C,NP_000083.3:p.Ala1384=,44/48,\N,Unknown significance,\N,synonymous_variant,11.5,0.0000150421,EXAC_NFE_AF,COL4A4
465265,2:227886828:C>T,NM_000092.4:c.4152G>A,NP_000083.3:p.Ala1384=,44/48,\N,Benign,\N,synonymous_variant,14.63,0.0083,1KG_AFR_AF,COL4A4
465266,2:227886829:G>A,NM_000092.4:c.4151C>T,NP_000083.3:p.Ala1384Val,44/48,\N,Likely benign,\N,missense_variant,14.4,0.00111359,EXAC_OTH_AF,COL4A4
465267,2:227886850:C>T,NM_000092.4:c.4130G>A,NP_000083.3:p.Arg1377Gln,44/48,\N,Likely benign,\N,missense_variant,22.7,0.0014,1KG_AMR_AF,COL4A4
465268,2:227886851:G>A,NM_000092.4:c.4129C>T,NP_000083.3:p.Arg1377Ter,44/48,\N,Pathogenic,Alport syndrome,stop_gained,41,0.0000301196,EXAC_NFE_AF,COL4A4
465269,2:227886854:G>A,NM_000092.4:c.4126C>T,NP_000083.3:p.Pro1376Ser,44/48,\N,Unknown significance,\N,missense_variant,15.09,0.0000606649,EXAC_SAS_AF,COL4A4
465270,2:227886858:G>A,NM_000092.4:c.4122C>T,NP_000083.3:p.Asp1374=,44/48,\N,Unknown significance,\N,synonymous_variant,1.068,0.0000150625,EXAC_NFE_AF,COL4A4
465271,2:227886866:C>T,NM_000092.4:c.4114G>A,NP_000083.3:p.Val1372Met,44/48,\N,Likely benign,\N,missense_variant,3.746,\N,\N,COL4A4
465272,2:227886871:G>A,NM_000092.4:c.4109C>T,NP_000083.3:p.Ala1370Val,44/48,\N,Unknown significance,\N,missense_variant,23.1,0.0000606722,EXAC_SAS_AF,COL4A4
465273,2:227886874:G>C,NM_000092.4:c.4106C>G,NP_000083.3:p.Pro1369Arg,44/48,\N,Unknown significance,\N,missense_variant,16.7,0.0000606722,EXAC_SAS_AF,COL4A4
465274,2:227886882:C>T,NM_000092.4:c.4098G>A,NP_000083.3:p.Pro1366=,44/48,\N,Unknown significance,\N,synonymous_variant,10.98,0.000260281,EXAC_AMR_AF,COL4A4
465275,2:227886882:CG>C,NM_000092.4:c.4097del,NP_000083.3:p.Pro1366ArgfsTer22,44/48,\N,Pathogenic,Alport syndrome,frameshift_variant,34,\N,\N,COL4A4
465276,2:227886883:G>A,NM_000092.4:c.4097C>T,NP_000083.3:p.Pro1366Leu,44/48,\N,Unknown significance,\N,missense_variant,23.2,0.001,1KG_EAS_AF,COL4A4
465277,2:227886888:A>C,NM_000092.4:c.4092T>G,NP_000083.3:p.Gly1364=,44/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,1.641,0.0000150825,EXAC_NFE_AF,COL4A4
465278,2:227886889:C>A,NM_000092.4:c.4091G>T,NP_000083.3:p.Gly1364Val,44/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,24,0.0000150811,EXAC_NFE_AF,COL4A4
465279,2:227886897:T>C,NM_000092.4:c.4091-8A>G,\N,\N,43/47,Unknown significance,\N,splice_region_variant&intron_variant,4.084,0.0000606796,EXAC_SAS_AF,COL4A4
465280,2:227886901:A>G,NM_000092.4:c.4091-12T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,7.605,0.000242718,EXAC_SAS_AF,COL4A4
465281,2:227886905:C>T,NM_000092.4:c.4091-16G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,4.971,0.0000606796,EXAC_SAS_AF,COL4A4
465282,2:227886906:C>T,NM_000092.4:c.4091-17G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.702,0.00026137,EVS_AA_AF,COL4A4
465283,2:227886907:G>A,NM_000092.4:c.4091-18C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.861,0.000121359,EVS_EA_AF,COL4A4
465284,2:227886911:G>A,NM_000092.4:c.4091-22C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,4.145,0.000728155,EXAC_SAS_AF,COL4A4
465285,2:227886921:T>C,NM_000092.4:c.4091-32A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,4.731,0.0000151007,EXAC_NFE_AF,COL4A4
465286,2:227886925:C>T,NM_000092.4:c.4091-36G>A,\N,\N,43/47,Benign,\N,intron_variant,4.859,0.563365,EXAC_SAS_AF,COL4A4
465287,2:227886926:G>A,NM_000092.4:c.4091-37C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,1.834,0.000260688,EVS_AA_AF,COL4A4
465288,2:227886940:G>A,NM_000092.4:c.4091-51C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,5.231,0.001,1KG_EUR_AF,COL4A4
465289,2:227886941:C>T,NM_000092.4:c.4091-52G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.249,0.000486855,EVS_AA_AF,COL4A4
465290,2:227886958:G>A,NM_000092.4:c.4091-69C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,4.838,0.0008,1KG_AFR_AF,COL4A4
465291,2:227886998:CAAATTCAGTATA>C,NM_000092.4:c.4091-121_4091-110del,\N,\N,43/47,Benign,\N,intron_variant,6.7,0.0133,1KG_SAS_AF,COL4A4
465292,2:227887032:A>G,NM_000092.4:c.4091-143T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,0.687,\N,\N,COL4A4
465293,2:227887036:A>T,NM_000092.4:c.4091-147T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.017,0.0015,1KG_AFR_AF,COL4A4
465294,2:227887049:A>G,NM_000092.4:c.4091-160T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,0.252,0.0008,1KG_AFR_AF,COL4A4
465295,2:227887077:T>C,NM_000092.4:c.4091-188A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,2.295,0.001,1KG_SAS_AF,COL4A4
465296,2:227887092:G>T,NM_000092.4:c.4091-203C>A,\N,\N,43/47,Benign,\N,intron_variant,0.783,0.0378,1KG_AFR_AF,COL4A4
465297,2:227887114:T>C,NM_000092.4:c.4091-225A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.408,\N,\N,COL4A4
465298,2:227887115:G>A,NM_000092.4:c.4091-226C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,4.868,\N,\N,COL4A4
465299,2:227887126:C>T,NM_000092.4:c.4091-237G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.096,\N,\N,COL4A4
465300,2:227887127:G>A,NM_000092.4:c.4091-238C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.13,0.001,1KG_SAS_AF,COL4A4
465301,2:227887130:T>A,NM_000092.4:c.4091-241A>T,\N,\N,43/47,Unknown significance,\N,intron_variant,7.226,0.001,1KG_SAS_AF,COL4A4
465302,2:227887178:C>T,NM_000092.4:c.4091-289G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.94,0.0000301586,EXAC_NFE_AF,COL4A4
465303,2:227887179:G>A,NM_000092.4:c.4091-290C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.416,0.00104336,EXAC_EAS_AF,COL4A4
465304,2:227887182:T>A,NM_000092.4:c.4091-293A>T,\N,\N,43/47,Unknown significance,\N,intron_variant,7.07,0.000121124,EXAC_SAS_AF,COL4A4
465305,2:227887183:GA>G,NM_000092.4:c.4091-295del,\N,\N,43/47,Unknown significance,\N,intron_variant,0.83,0.000121124,EXAC_SAS_AF,COL4A4
465306,2:227887186:G>A,NM_000092.4:c.4091-297C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,4.63,0.0000150798,EXAC_NFE_AF,COL4A4
465307,2:227887187:C>T,NM_000092.4:c.4091-298G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,3.87,0.003,1KG_AFR_AF,COL4A4
465308,2:227887192:A>T,NM_000092.4:c.4091-303T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,3.792,0.0000301595,EXAC_NFE_AF,COL4A4
465309,2:227887193:C>T,NM_000092.4:c.4091-304G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.401,0.000060562,EXAC_SAS_AF,COL4A4
465310,2:227887194:G>A,NM_000092.4:c.4091-305C>T,\N,\N,43/47,Benign,\N,intron_variant,0.657,0.0152915,EXAC_AFR_AF,COL4A4
465311,2:227887198:T>G,NM_000092.4:c.4091-309A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,3.815,0.0000753989,EXAC_NFE_AF,COL4A4
465312,2:227887199:GA>G,NM_000092.4:c.4091-311del,\N,\N,43/47,Unknown significance,\N,intron_variant,1.158,\N,\N,COL4A4
465313,2:227887200:A>T,NM_000092.4:c.4091-311T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,3.912,0.003,1KG_EUR_AF,COL4A4
465314,2:227887201:C>T,NM_000092.4:c.4091-312G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.187,0.000060562,EXAC_SAS_AF,COL4A4
465315,2:227887206:A>T,NM_000092.4:c.4091-317T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.714,0.000105558,EXAC_NFE_AF,COL4A4
465316,2:227887212:T>C,NM_000092.4:c.4091-323A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,3.466,0.000115929,EXAC_EAS_AF,COL4A4
465317,2:227887219:A>G,NM_000092.4:c.4091-330T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,6.075,\N,\N,COL4A4
465318,2:227887229:C>T,NM_000092.4:c.4091-340G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,6.758,0.000060562,EXAC_SAS_AF,COL4A4
465319,2:227887230:A>G,NM_000092.4:c.4091-341T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.644,0.0000150798,EXAC_NFE_AF,COL4A4
465320,2:227887235:T>C,NM_000092.4:c.4091-346A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,1.083,0.0000150798,EXAC_NFE_AF,COL4A4
465321,2:227887261:A>G,NM_000092.4:c.4091-372T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.526,\N,\N,COL4A4
465322,2:227887267:A>G,NM_000092.4:c.4091-378T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,6.137,0.000015083,EXAC_NFE_AF,COL4A4
465323,2:227887267:A>T,NM_000092.4:c.4091-378T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.542,0.000060584,EXAC_SAS_AF,COL4A4
465324,2:227887275:T>G,NM_000092.4:c.4091-386A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.527,0.000302389,EXAC_FIN_AF,COL4A4
465325,2:227887276:G>A,NM_000092.4:c.4091-387C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.534,0.000139587,EVS_EA_AF,COL4A4
465326,2:227887296:C>T,NM_000092.4:c.4091-407G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,9.564,0.00144509,EVS_AA_AF,COL4A4
465327,2:227887334:A>T,NM_000092.4:c.4091-445T>A,\N,\N,43/47,Benign,\N,intron_variant,4.629,0.0605,1KG_AFR_AF,COL4A4
465328,2:227887335:C>T,NM_000092.4:c.4091-446G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.063,0.001,1KG_EUR_AF,COL4A4
465329,2:227887336:G>A,NM_000092.4:c.4091-447C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.977,\N,\N,COL4A4
465330,2:227887363:C>T,NM_000092.4:c.4091-474G>A,\N,\N,43/47,Benign,\N,intron_variant,3.622,0.0219,1KG_AFR_AF,COL4A4
465331,2:227887363:CAT>C,NM_000092.4:c.4091-476_4091-475del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465332,2:227887367:G>A,NM_000092.4:c.4091-478C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,3.247,\N,\N,COL4A4
465333,2:227887384:G>C,NM_000092.4:c.4091-495C>G,\N,\N,43/47,Unknown significance,\N,intron_variant,1.164,\N,\N,COL4A4
465334,2:227887386:G>A,NM_000092.4:c.4091-497C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.409,0.0008,1KG_AFR_AF,COL4A4
465335,2:227887427:C>T,NM_000092.4:c.4091-538G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.414,0.001,1KG_SAS_AF,COL4A4
465336,2:227887431:T>C,NM_000092.4:c.4091-542A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,2.314,\N,\N,COL4A4
465337,2:227887483:C>G,NM_000092.4:c.4091-594G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,2.27,0.001,1KG_EAS_AF,COL4A4
465338,2:227887512:G>A,NM_000092.4:c.4091-623C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.334,\N,\N,COL4A4
465339,2:227887536:C>A,NM_000092.4:c.4091-647G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.548,0.0008,1KG_AFR_AF,COL4A4
465340,2:227887630:C>T,NM_000092.4:c.4091-741G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.164,0.0015,1KG_AFR_AF,COL4A4
465341,2:227887648:GGTTT>G,NM_000092.4:c.4091-763_4091-760del,\N,\N,43/47,Benign,\N,intron_variant,1.911,0.0325,1KG_AFR_AF,COL4A4
465342,2:227887683:A>G,NM_000092.4:c.4091-794T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,4.133,0.0008,1KG_AFR_AF,COL4A4
465343,2:227887696:G>T,NM_000092.4:c.4091-807C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,4.315,0.001,1KG_EAS_AF,COL4A4
465344,2:227887717:C>T,NM_000092.4:c.4091-828G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.329,\N,\N,COL4A4
465345,2:227887751:C>T,NM_000092.4:c.4091-862G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.106,0.0008,1KG_AFR_AF,COL4A4
465346,2:227887799:G>A,NM_000092.4:c.4091-910C>T,\N,\N,43/47,Benign,\N,intron_variant,4.28,0.0417,1KG_EAS_AF,COL4A4
465347,2:227887805:A>G,NM_000092.4:c.4091-916T>C,\N,\N,43/47,Benign,\N,intron_variant,3.467,0.0257,1KG_AFR_AF,COL4A4
465348,2:227887806:T>C,NM_000092.4:c.4091-917A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,2.431,0.0008,1KG_AFR_AF,COL4A4
465349,2:227887828:A>G,NM_000092.4:c.4091-939T>C,\N,\N,43/47,Benign,\N,intron_variant,3.629,0.5552,1KG_SAS_AF,COL4A4
465350,2:227887843:G>A,NM_000092.4:c.4091-954C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,3.407,0.002,1KG_EUR_AF,COL4A4
465351,2:227887883:A>G,NM_000092.4:c.4091-994T>C,\N,\N,43/47,Benign,\N,intron_variant,1.152,0.0159,1KG_EUR_AF,COL4A4
465352,2:227887897:C>G,NM_000092.4:c.4091-1008G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,1.836,0.0014,1KG_AMR_AF,COL4A4
465353,2:227887909:C>T,NM_000092.4:c.4091-1020G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,3.426,0.0014,1KG_AMR_AF,COL4A4
465354,2:227887922:C>T,NM_000092.4:c.4091-1033G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.613,0.002,1KG_SAS_AF,COL4A4
465355,2:227887923:G>A,NM_000092.4:c.4091-1034C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.334,0.001,1KG_EUR_AF,COL4A4
465356,2:227887928:G>A,NM_000092.4:c.4091-1039C>T,\N,\N,43/47,Benign,\N,intron_variant,0.351,0.0159,1KG_AMR_AF|1KG_EUR_AF,COL4A4
465357,2:227887938:CTT>C,NM_000092.4:c.4091-1051_4091-1050del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465358,2:227887953:T>A,NM_000092.4:c.4091-1064A>T,\N,\N,43/47,Benign,\N,intron_variant,7.708,0.0204,1KG_AFR_AF,COL4A4
465359,2:227887995:TA>T,NM_000092.4:c.4091-1107del,\N,\N,43/47,Unknown significance,\N,intron_variant,4.461,\N,\N,COL4A4
465360,2:227888011:T>A,NM_000092.4:c.4091-1122A>T,\N,\N,43/47,Unknown significance,\N,intron_variant,6.561,\N,\N,COL4A4
465361,2:227888014:C>G,NM_000092.4:c.4091-1125G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,1.886,0.001,1KG_SAS_AF,COL4A4
465362,2:227888024:T>C,NM_000092.4:c.4091-1135A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.35,\N,\N,COL4A4
465363,2:227888156:T>TAA,NM_000092.4:c.4091-1268_4091-1267insTT,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465364,2:227888157:C>CAA,NM_000092.4:c.4091-1270_4091-1269dup,\N,\N,43/47,Unknown significance,\N,intron_variant,2.641,\N,\N,COL4A4
465365,2:227888157:C>CAAA,NM_000092.4:c.4091-1271_4091-1269dup,\N,\N,43/47,Unknown significance,\N,intron_variant,2.488,\N,\N,COL4A4
465366,2:227888164:A>G,NM_000092.4:c.4091-1275T>C,\N,\N,43/47,Benign,\N,intron_variant,0.669,0.0091,1KG_AFR_AF,COL4A4
465367,2:227888166:A>G,NM_000092.4:c.4091-1277T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,0.503,0.0008,1KG_AFR_AF,COL4A4
465368,2:227888199:T>A,NM_000092.4:c.4091-1310A>T,\N,\N,43/47,Unknown significance,\N,intron_variant,5.622,\N,\N,COL4A4
465369,2:227888212:T>C,NM_000092.4:c.4091-1323A>G,\N,\N,43/47,Benign,\N,intron_variant,5.767,0.0072,1KG_AMR_AF,COL4A4
465370,2:227888219:CTTTCACATCATTAAGACATCT>C,NM_000092.4:c.4091-1351_4091-1331del,\N,\N,43/47,Benign,\N,intron_variant,1.784,0.0658,1KG_AFR_AF,COL4A4
465371,2:227888228:CATT>C,NM_000092.4:c.4091-1342_4091-1340del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465372,2:227888255:T>C,NM_000092.4:c.4091-1366A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,3.201,\N,\N,COL4A4
465373,2:227888272:C>T,NM_000092.4:c.4091-1383G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.706,0.001,1KG_SAS_AF,COL4A4
465374,2:227888278:A>G,NM_000092.4:c.4091-1389T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,3.397,\N,\N,COL4A4
465375,2:227888305:C>A,NM_000092.4:c.4091-1416G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,1.767,0.001,1KG_SAS_AF,COL4A4
465376,2:227888358:G>A,NM_000092.4:c.4091-1469C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.797,0.001,1KG_EAS_AF,COL4A4
465377,2:227888376:A>G,NM_000092.4:c.4091-1487T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,7.318,0.001,1KG_EUR_AF,COL4A4
465378,2:227888394:G>T,NM_000092.4:c.4091-1505C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.866,0.001,1KG_EUR_AF,COL4A4
465379,2:227888448:C>T,NM_000092.4:c.4091-1559G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.685,0.002,1KG_EAS_AF,COL4A4
465380,2:227888449:GC>G,NM_000092.4:c.4091-1561del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465381,2:227888455:C>T,NM_000092.4:c.4091-1566G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.848,0.002,1KG_EAS_AF,COL4A4
465382,2:227888458:G>C,NM_000092.4:c.4091-1569C>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.155,\N,\N,COL4A4
465383,2:227888467:T>G,NM_000092.4:c.4091-1578A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,0.917,\N,\N,COL4A4
465384,2:227888498:G>A,NM_000092.4:c.4091-1609C>T,\N,\N,43/47,Benign,\N,intron_variant,2.824,0.0202,1KG_AMR_AF,COL4A4
465385,2:227888535:C>T,NM_000092.4:c.4091-1646G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.291,\N,\N,COL4A4
465386,2:227888549:G>A,NM_000092.4:c.4091-1660C>T,\N,\N,43/47,Benign,\N,intron_variant,0.714,0.006,1KG_EUR_AF,COL4A4
465387,2:227888584:C>T,NM_000092.4:c.4091-1695G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.294,0.001,1KG_SAS_AF,COL4A4
465388,2:227888598:C>A,NM_000092.4:c.4091-1709G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.358,\N,\N,COL4A4
465389,2:227888626:G>A,NM_000092.4:c.4091-1737C>T,\N,\N,43/47,Benign,\N,intron_variant,4.921,0.0061,1KG_AFR_AF,COL4A4
465390,2:227888637:G>A,NM_000092.4:c.4091-1748C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.032,0.0015,1KG_AFR_AF,COL4A4
465391,2:227888646:C>T,NM_000092.4:c.4091-1757G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.71,\N,\N,COL4A4
465392,2:227888647:G>A,NM_000092.4:c.4091-1758C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.289,\N,\N,COL4A4
465393,2:227888653:C>T,NM_000092.4:c.4091-1764G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.335,\N,\N,COL4A4
465394,2:227888659:T>C,NM_000092.4:c.4091-1770A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.024,\N,\N,COL4A4
465395,2:227888720:CAA>C,NM_000092.4:c.4090+1796_4090+1797del,\N,\N,43/47,Unknown significance,\N,intron_variant,3.436,\N,\N,COL4A4
465396,2:227888744:C>CA,NM_000092.4:c.4090+1773dup,\N,\N,43/47,Benign,\N,intron_variant,2.986,0.1915,1KG_EAS_AF,COL4A4
465397,2:227888753:C>A,NM_000092.4:c.4090+1765G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,1.654,0.001,1KG_EUR_AF,COL4A4
465398,2:227888758:C>G,NM_000092.4:c.4090+1760G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,4.502,0.002,1KG_SAS_AF,COL4A4
465399,2:227888788:G>A,NM_000092.4:c.4090+1730C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.431,\N,\N,COL4A4
465400,2:227888791:G>A,NM_000092.4:c.4090+1727C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,5.66,\N,\N,COL4A4
465401,2:227888798:C>T,NM_000092.4:c.4090+1720G>A,\N,\N,43/47,Benign,\N,intron_variant,6.449,0.0159,1KG_EUR_AF,COL4A4
465402,2:227888809:C>G,NM_000092.4:c.4090+1709G>C,\N,\N,43/47,Benign,\N,intron_variant,2.313,0.0091,1KG_AFR_AF,COL4A4
465403,2:227888817:G>A,NM_000092.4:c.4090+1701C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.481,0.001,1KG_EAS_AF,COL4A4
465404,2:227888838:T>C,NM_000092.4:c.4090+1680A>G,\N,\N,43/47,Benign,\N,intron_variant,1.855,0.5651,1KG_AFR_AF,COL4A4
465405,2:227888869:T>C,NM_000092.4:c.4090+1649A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,1.605,\N,\N,COL4A4
465406,2:227888890:C>A,NM_000092.4:c.4090+1628G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.577,\N,\N,COL4A4
465407,2:227888931:A>C,NM_000092.4:c.4090+1587T>G,\N,\N,43/47,Unknown significance,\N,intron_variant,1.311,\N,\N,COL4A4
465408,2:227888964:C>T,NM_000092.4:c.4090+1554G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.077,0.0008,1KG_AFR_AF,COL4A4
465409,2:227888976:C>T,NM_000092.4:c.4090+1542G>A,\N,\N,43/47,Benign,\N,intron_variant,3.48,0.0628,1KG_AFR_AF,COL4A4
465410,2:227888982:T>G,NM_000092.4:c.4090+1536A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,1.049,0.001,1KG_SAS_AF,COL4A4
465411,2:227888997:C>T,NM_000092.4:c.4090+1521G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.158,0.0038,1KG_AFR_AF,COL4A4
465412,2:227888998:G>A,NM_000092.4:c.4090+1520C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.081,\N,\N,COL4A4
465413,2:227888998:G>T,NM_000092.4:c.4090+1520C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.031,\N,\N,COL4A4
465414,2:227889000:G>A,NM_000092.4:c.4090+1518C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.449,\N,\N,COL4A4
465415,2:227889006:T>G,NM_000092.4:c.4090+1512A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,3.578,0.001,1KG_SAS_AF,COL4A4
465416,2:227889011:G>C,NM_000092.4:c.4090+1507C>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.48,0.001,1KG_SAS_AF,COL4A4
465417,2:227889048:G>A,NM_000092.4:c.4090+1470C>T,\N,\N,43/47,Benign,\N,intron_variant,1.419,0.0159,1KG_AFR_AF,COL4A4
465418,2:227889061:T>C,NM_000092.4:c.4090+1457A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,1.94,\N,\N,COL4A4
465419,2:227889078:A>T,NM_000092.4:c.4090+1440T>A,\N,\N,43/47,Benign,\N,intron_variant,0.46,0.0082,1KG_SAS_AF,COL4A4
465420,2:227889152:T>G,NM_000092.4:c.4090+1366A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,16.35,\N,\N,COL4A4
465421,2:227889157:G>A,NM_000092.4:c.4090+1361C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,14.87,\N,\N,COL4A4
465422,2:227889186:G>A,NM_000092.4:c.4090+1332C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,0.465,\N,\N,COL4A4
465423,2:227889206:C>T,NM_000092.4:c.4090+1312G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,0.688,0.0014,1KG_AMR_AF,COL4A4
465424,2:227889253:GT>G,NM_000092.4:c.4090+1264del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465425,2:227889258:T>C,NM_000092.4:c.4090+1260A>G,\N,\N,43/47,Benign,\N,intron_variant,3.227,0.0556,1KG_EAS_AF,COL4A4
465426,2:227889262:A>G,NM_000092.4:c.4090+1256T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,0.598,\N,\N,COL4A4
465427,2:227889264:G>A,NM_000092.4:c.4090+1254C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.009,\N,\N,COL4A4
465428,2:227889320:C>T,NM_000092.4:c.4090+1198G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,5.108,\N,\N,COL4A4
465429,2:227889341:C>T,NM_000092.4:c.4090+1177G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.368,0.001,1KG_EUR_AF,COL4A4
465430,2:227889422:C>G,NM_000092.4:c.4090+1096G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,3.961,0.0014,1KG_AMR_AF,COL4A4
465431,2:227889447:C>T,NM_000092.4:c.4090+1071G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,4.791,0.0008,1KG_AFR_AF,COL4A4
465432,2:227889526:G>A,NM_000092.4:c.4090+992C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,8.488,\N,\N,COL4A4
465433,2:227889530:G>A,NM_000092.4:c.4090+988C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,7.477,\N,\N,COL4A4
465434,2:227889559:A>C,NM_000092.4:c.4090+959T>G,\N,\N,43/47,Benign,\N,intron_variant,1.63,0.5651,1KG_AFR_AF,COL4A4
465435,2:227889591:G>A,NM_000092.4:c.4090+927C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,2.977,0.0031,1KG_SAS_AF,COL4A4
465436,2:227889618:TGGTGCTTCCTATTTA>T,NM_000092.4:c.4090+885_4090+899del,\N,\N,43/47,Benign,\N,intron_variant,6.145,0.0227,1KG_AFR_AF,COL4A4
465437,2:227889630:T>G,NM_000092.4:c.4090+888A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,1.753,\N,\N,COL4A4
465438,2:227889657:G>T,NM_000092.4:c.4090+861C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,2.691,0.0008,1KG_AFR_AF,COL4A4
465439,2:227889667:A>C,NM_000092.4:c.4090+851T>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.076,\N,\N,COL4A4
465440,2:227889783:T>G,NM_000092.4:c.4090+735A>C,\N,\N,43/47,Benign,\N,intron_variant,3.172,0.5552,1KG_SAS_AF,COL4A4
465441,2:227889794:AGAAACT>A,NM_000092.4:c.4090+718_4090+723del,\N,\N,43/47,Benign,\N,intron_variant,6.185,0.0552,1KG_AFR_AF,COL4A4
465442,2:227889820:C>A,NM_000092.4:c.4090+698G>T,\N,\N,43/47,Unknown significance,\N,intron_variant,4.123,0.002,1KG_SAS_AF,COL4A4
465443,2:227889840:A>G,NM_000092.4:c.4090+678T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,1.509,\N,\N,COL4A4
465444,2:227889859:G>T,NM_000092.4:c.4090+659C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.118,\N,\N,COL4A4
465445,2:227889864:T>C,NM_000092.4:c.4090+654A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,3.494,\N,\N,COL4A4
465446,2:227889919:G>T,NM_000092.4:c.4090+599C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.172,\N,\N,COL4A4
465447,2:227889946:CT>C,NM_000092.4:c.4090+571del,\N,\N,43/47,Benign,\N,intron_variant,6.735,0.0129,1KG_EUR_AF,COL4A4
465448,2:227889951:G>A,NM_000092.4:c.4090+567C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,3.665,0.0008,1KG_AFR_AF,COL4A4
465449,2:227889972:T>G,NM_000092.4:c.4090+546A>C,\N,\N,43/47,Unknown significance,\N,intron_variant,14.64,\N,\N,COL4A4
465450,2:227889980:G>A,NM_000092.4:c.4090+538C>T,\N,\N,43/47,Benign,\N,intron_variant,15.09,0.1634,1KG_AFR_AF,COL4A4
465451,2:227890021:T>C,NM_000092.4:c.4090+497A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,6.019,0.0015,1KG_AFR_AF,COL4A4
465452,2:227890059:G>T,NM_000092.4:c.4090+459C>A,\N,\N,43/47,Unknown significance,\N,intron_variant,13.17,\N,\N,COL4A4
465453,2:227890069:A>G,NM_000092.4:c.4090+449T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,7.896,0.001,1KG_EUR_AF,COL4A4
465454,2:227890078:G>A,NM_000092.4:c.4090+440C>T,\N,\N,43/47,Benign,\N,intron_variant,1.229,0.0051,1KG_SAS_AF,COL4A4
465455,2:227890097:C>T,NM_000092.4:c.4090+421G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,8.371,0.0015,1KG_AFR_AF,COL4A4
465456,2:227890101:TCA>T,NM_000092.4:c.4090+415_4090+416del,\N,\N,43/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465457,2:227890199:A>G,NM_000092.4:c.4090+319T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,7.588,\N,\N,COL4A4
465458,2:227890209:C>T,NM_000092.4:c.4090+309G>A,\N,\N,43/47,Benign,\N,intron_variant,6.498,0.0567,1KG_AFR_AF,COL4A4
465459,2:227890227:T>C,NM_000092.4:c.4090+291A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,2.264,0.0008,1KG_AFR_AF,COL4A4
465460,2:227890252:T>C,NM_000092.4:c.4090+266A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,0.6,\N,\N,COL4A4
465461,2:227890275:A>G,NM_000092.4:c.4090+243T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.598,0.0014,1KG_AMR_AF,COL4A4
465462,2:227890283:A>T,NM_000092.4:c.4090+235T>A,\N,\N,43/47,Benign,\N,intron_variant,2.585,0.5658,1KG_AFR_AF,COL4A4
465463,2:227890295:C>T,NM_000092.4:c.4090+223G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,1.589,\N,\N,COL4A4
465464,2:227890297:G>A,NM_000092.4:c.4090+221C>T,\N,\N,43/47,Unknown significance,\N,intron_variant,3.391,0.0014,1KG_AMR_AF,COL4A4
465465,2:227890308:C>T,NM_000092.4:c.4090+210G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,7.181,\N,\N,COL4A4
465466,2:227890331:A>G,NM_000092.4:c.4090+187T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.738,\N,\N,COL4A4
465467,2:227890353:T>C,NM_000092.4:c.4090+165A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,15.19,0.001,1KG_EUR_AF,COL4A4
465468,2:227890362:C>T,NM_000092.4:c.4090+156G>A,\N,\N,43/47,Benign,\N,intron_variant,1.604,0.0184,1KG_SAS_AF,COL4A4
465469,2:227890375:C>T,NM_000092.4:c.4090+143G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,8.748,\N,\N,COL4A4
465470,2:227890378:T>C,NM_000092.4:c.4090+140A>G,\N,\N,43/47,Unknown significance,\N,intron_variant,4.898,0.001,1KG_EAS_AF,COL4A4
465471,2:227890421:C>T,NM_000092.4:c.4090+97G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,11,0.0014,1KG_AMR_AF,COL4A4
465472,2:227890477:C>G,NM_000092.4:c.4090+41G>C,\N,\N,43/47,Unknown significance,\N,intron_variant,4.518,\N,\N,COL4A4
465473,2:227890477:C>T,NM_000092.4:c.4090+41G>A,\N,\N,43/47,Unknown significance,\N,intron_variant,4.777,0.000464468,EXAC_EAS_AF,COL4A4
465474,2:227890481:AGT>A,NM_000092.4:c.4090+35_4090+36del,\N,\N,43/47,Unknown significance,\N,intron_variant,3.323,0.000103029,EXAC_AFR_AF,COL4A4
465475,2:227890485:A>G,NM_000092.4:c.4090+33T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,3.212,\N,\N,COL4A4
465476,2:227890489:G>C,NM_000092.4:c.4090+29C>G,\N,\N,43/47,Unknown significance,\N,intron_variant,3.472,0.000015048,EXAC_NFE_AF,COL4A4
465477,2:227890490:A>C,NM_000092.4:c.4090+28T>G,\N,\N,43/47,Unknown significance,\N,intron_variant,4.666,0.0008,1KG_AFR_AF,COL4A4
465478,2:227890492:A>G,NM_000092.4:c.4090+26T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,5.359,0.0000607681,EXAC_SAS_AF,COL4A4
465479,2:227890495:A>T,NM_000092.4:c.4090+23T>A,\N,\N,43/47,Unknown significance,\N,intron_variant,4.831,0.000364564,EXAC_SAS_AF,COL4A4
465480,2:227890499:A>G,NM_000092.4:c.4090+19T>C,\N,\N,43/47,Unknown significance,\N,intron_variant,2.783,0.000122309,EVS_EA_AF,COL4A4
465481,2:227890504:A>G,NM_000092.4:c.4090+14T>C,\N,\N,43/47,Benign,\N,intron_variant,5.212,0.006,1KG_EUR_AF,COL4A4
465482,2:227890513:C>T,NM_000092.4:c.4090+5G>A,\N,\N,43/47,Unknown significance,\N,splice_region_variant&intron_variant,15.83,0.00012207,EVS_EA_AF,COL4A4
465483,2:227890534:G>A,NM_000092.4:c.4082-8C>T,\N,\N,42/47,Benign,\N,splice_region_variant&intron_variant,0.237,0.0102812,EXAC_FIN_AF,COL4A4
465484,2:227890544:C>T,NM_000092.4:c.4082-18G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,3.187,0.000030068,EXAC_NFE_AF,COL4A4
465485,2:227890551:C>T,NM_000092.4:c.4082-25G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.671,0.000102796,EXAC_AFR_AF,COL4A4
465486,2:227890552:G>A,NM_000092.4:c.4082-26C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,0.608,0.000780437,EXAC_AMR_AF,COL4A4
465487,2:227890554:G>T,NM_000092.4:c.4082-28C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,2.031,\N,\N,COL4A4
465488,2:227890563:A>G,NM_000092.4:c.4082-37T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,1.927,0.00111359,EXAC_OTH_AF,COL4A4
465489,2:227890573:C>A,NM_000092.4:c.4082-47G>T,\N,\N,42/47,Unknown significance,\N,intron_variant,5.958,0.0000150281,EXAC_NFE_AF,COL4A4
465490,2:227890581:A>G,NM_000092.4:c.4082-55T>C,\N,\N,42/47,Benign,\N,intron_variant,9.325,0.028,1KG_AFR_AF,COL4A4
465491,2:227890633:T>C,NM_000092.4:c.4082-107A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,4.348,\N,\N,COL4A4
465492,2:227890726:T>C,NM_000092.4:c.4082-200A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,2.183,\N,\N,COL4A4
465493,2:227890727:A>G,NM_000092.4:c.4082-201T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,4.236,\N,\N,COL4A4
465494,2:227890739:C>T,NM_000092.4:c.4082-213G>A,\N,\N,42/47,Benign,\N,intron_variant,7.848,0.0249,1KG_EUR_AF,COL4A4
465495,2:227890740:G>A,NM_000092.4:c.4082-214C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,10.73,\N,\N,COL4A4
465496,2:227890760:G>C,NM_000092.4:c.4082-234C>G,\N,\N,42/47,Benign,\N,intron_variant,1.172,0.0297,1KG_SAS_AF,COL4A4
465497,2:227890775:T>G,NM_000092.4:c.4082-249A>C,\N,\N,42/47,Unknown significance,\N,intron_variant,3.67,0.001,1KG_EUR_AF,COL4A4
465498,2:227890798:A>AT,NM_000092.4:c.4082-273dup,\N,\N,42/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465499,2:227890832:T>C,NM_000092.4:c.4082-306A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.417,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
465500,2:227890844:A>G,NM_000092.4:c.4082-318T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,4.855,\N,\N,COL4A4
465501,2:227890845:T>C,NM_000092.4:c.4082-319A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.785,0.0008,1KG_AFR_AF,COL4A4
465502,2:227890866:A>G,NM_000092.4:c.4082-340T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,1.633,0.0015,1KG_AFR_AF,COL4A4
465503,2:227890900:T>C,NM_000092.4:c.4082-374A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,5.393,\N,\N,COL4A4
465504,2:227890921:A>T,NM_000092.4:c.4082-395T>A,\N,\N,42/47,Unknown significance,\N,intron_variant,3.086,\N,\N,COL4A4
465505,2:227890986:G>A,NM_000092.4:c.4082-460C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,0.468,\N,\N,COL4A4
465506,2:227891007:A>G,NM_000092.4:c.4082-481T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,5.065,0.0008,1KG_AFR_AF,COL4A4
465507,2:227891009:C>T,NM_000092.4:c.4082-483G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,6.132,0.001,1KG_EUR_AF,COL4A4
465508,2:227891012:G>A,NM_000092.4:c.4082-486C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,5.718,\N,\N,COL4A4
465509,2:227891014:C>A,NM_000092.4:c.4082-488G>T,\N,\N,42/47,Unknown significance,\N,intron_variant,6.656,0.001,1KG_EUR_AF,COL4A4
465510,2:227891021:G>T,NM_000092.4:c.4082-495C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,3.97,0.0031,1KG_SAS_AF,COL4A4
465511,2:227891041:G>A,NM_000092.4:c.4082-515C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,3.665,0.002,1KG_SAS_AF,COL4A4
465512,2:227891064:A>C,NM_000092.4:c.4082-538T>G,\N,\N,42/47,Unknown significance,\N,intron_variant,0.591,\N,\N,COL4A4
465513,2:227891072:C>G,NM_000092.4:c.4082-546G>C,\N,\N,42/47,Unknown significance,\N,intron_variant,0.127,\N,\N,COL4A4
465514,2:227891086:C>T,NM_000092.4:c.4082-560G>A,\N,\N,42/47,Benign,\N,intron_variant,0.052,0.0454,1KG_AFR_AF,COL4A4
465515,2:227891093:A>G,NM_000092.4:c.4082-567T>C,\N,\N,42/47,Benign,\N,intron_variant,3.161,0.0061,1KG_AFR_AF,COL4A4
465516,2:227891107:C>G,NM_000092.4:c.4082-581G>C,\N,\N,42/47,Unknown significance,\N,intron_variant,0.015,\N,\N,COL4A4
465517,2:227891107:C>T,NM_000092.4:c.4082-581G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,0.034,\N,\N,COL4A4
465518,2:227891108:G>A,NM_000092.4:c.4082-582C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.554,\N,\N,COL4A4
465519,2:227891119:C>T,NM_000092.4:c.4082-593G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,3.002,0.001,1KG_EAS_AF,COL4A4
465520,2:227891127:C>T,NM_000092.4:c.4082-601G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,0.332,0.0008,1KG_AFR_AF,COL4A4
465521,2:227891128:G>A,NM_000092.4:c.4082-602C>T,\N,\N,42/47,Benign,\N,intron_variant,1.682,0.0061,1KG_AFR_AF,COL4A4
465522,2:227891131:C>T,NM_000092.4:c.4082-605G>A,\N,\N,42/47,Benign,\N,intron_variant,2.51,0.0575,1KG_AFR_AF,COL4A4
465523,2:227891140:G>A,NM_000092.4:c.4082-614C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,0.443,\N,\N,COL4A4
465524,2:227891168:T>A,NM_000092.4:c.4082-642A>T,\N,\N,42/47,Unknown significance,\N,intron_variant,3.648,0.0014,1KG_AMR_AF,COL4A4
465525,2:227891193:T>C,NM_000092.4:c.4082-667A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,0.337,\N,\N,COL4A4
465526,2:227891198:A>G,NM_000092.4:c.4082-672T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,2.148,\N,\N,COL4A4
465527,2:227891210:G>A,NM_000092.4:c.4082-684C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,0.129,\N,\N,COL4A4
465528,2:227891243:T>C,NM_000092.4:c.4082-717A>G,\N,\N,42/47,Benign,\N,intron_variant,1.007,0.0454,1KG_AFR_AF,COL4A4
465529,2:227891248:C>T,NM_000092.4:c.4082-722G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,4.382,\N,\N,COL4A4
465530,2:227891266:A>G,NM_000092.4:c.4082-740T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,3.598,0.0008,1KG_AFR_AF,COL4A4
465531,2:227891321:T>G,NM_000092.4:c.4082-795A>C,\N,\N,42/47,Unknown significance,\N,intron_variant,5.582,\N,\N,COL4A4
465532,2:227891331:C>T,NM_000092.4:c.4082-805G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.867,0.0014,1KG_AMR_AF,COL4A4
465533,2:227891332:G>A,NM_000092.4:c.4082-806C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.066,0.0014,1KG_AMR_AF,COL4A4
465534,2:227891342:G>T,NM_000092.4:c.4082-816C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,0.738,\N,\N,COL4A4
465535,2:227891361:G>A,NM_000092.4:c.4082-835C>T,\N,\N,42/47,Benign,\N,intron_variant,2.553,0.0212,1KG_AFR_AF,COL4A4
465536,2:227891392:A>G,NM_000092.4:c.4082-866T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,9.654,\N,\N,COL4A4
465537,2:227891394:T>C,NM_000092.4:c.4082-868A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,10.6,0.001,1KG_SAS_AF,COL4A4
465538,2:227891414:CAT>C,NM_000092.4:c.4082-890_4082-889del,\N,\N,42/47,Unknown significance,\N,intron_variant,7.583,0.0023,1KG_AFR_AF,COL4A4
465539,2:227891417:G>A,NM_000092.4:c.4082-891C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.271,\N,\N,COL4A4
465540,2:227891424:T>G,NM_000092.4:c.4082-898A>C,\N,\N,42/47,Unknown significance,\N,intron_variant,4.305,\N,\N,COL4A4
465541,2:227891430:T>C,NM_000092.4:c.4082-904A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.693,0.002,1KG_SAS_AF,COL4A4
465542,2:227891454:G>A,NM_000092.4:c.4082-928C>T,\N,\N,42/47,Benign,\N,intron_variant,0.757,0.0189,1KG_AFR_AF,COL4A4
465543,2:227891467:A>G,NM_000092.4:c.4082-941T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,4.149,0.001,1KG_EAS_AF,COL4A4
465544,2:227891475:A>C,NM_000092.4:c.4082-949T>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.114,\N,\N,COL4A4
465545,2:227891485:CTA>C,NM_000092.4:c.4082-961_4082-960del,\N,\N,42/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465546,2:227891488:T>C,NM_000092.4:c.4082-962A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.551,\N,\N,COL4A4
465547,2:227891506:C>T,NM_000092.4:c.4082-980G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,4.793,\N,\N,COL4A4
465548,2:227891526:G>A,NM_000092.4:c.4082-1000C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,3.449,0.001,1KG_SAS_AF,COL4A4
465549,2:227891540:G>A,NM_000092.4:c.4082-1014C>T,\N,\N,42/47,Benign,\N,intron_variant,11.64,0.0735,1KG_AMR_AF,COL4A4
465550,2:227891576:G>A,NM_000092.4:c.4081+1042C>T,\N,\N,42/47,Benign,\N,intron_variant,6.722,0.0099,1KG_EAS_AF,COL4A4
465551,2:227891591:G>A,NM_000092.4:c.4081+1027C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,0.085,0.001,1KG_SAS_AF,COL4A4
465552,2:227891604:C>T,NM_000092.4:c.4081+1014G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.841,0.0038,1KG_AFR_AF,COL4A4
465553,2:227891688:G>A,NM_000092.4:c.4081+930C>T,\N,\N,42/47,Benign,\N,intron_variant,1.436,0.121,1KG_AFR_AF,COL4A4
465554,2:227891692:C>T,NM_000092.4:c.4081+926G>A,\N,\N,42/47,Benign,\N,intron_variant,3.992,0.0091,1KG_AFR_AF,COL4A4
465555,2:227891744:G>C,NM_000092.4:c.4081+874C>G,\N,\N,42/47,Benign,\N,intron_variant,2.959,0.0113,1KG_AFR_AF,COL4A4
465556,2:227891755:G>C,NM_000092.4:c.4081+863C>G,\N,\N,42/47,Unknown significance,\N,intron_variant,0.418,0.001,1KG_EUR_AF,COL4A4
465557,2:227891769:G>T,NM_000092.4:c.4081+849C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,0.609,\N,\N,COL4A4
465558,2:227891790:G>A,NM_000092.4:c.4081+828C>T,\N,\N,42/47,Benign,\N,intron_variant,1.448,0.0469,1KG_AFR_AF,COL4A4
465559,2:227891805:T>C,NM_000092.4:c.4081+813A>G,\N,\N,42/47,Unknown significance,\N,intron_variant,1.531,\N,\N,COL4A4
465560,2:227891814:A>G,NM_000092.4:c.4081+804T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,0.547,0.0023,1KG_AFR_AF,COL4A4
465561,2:227891830:C>T,NM_000092.4:c.4081+788G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.865,0.001,1KG_SAS_AF,COL4A4
465562,2:227891842:C>T,NM_000092.4:c.4081+776G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,0.357,0.001,1KG_EAS_AF,COL4A4
465563,2:227891861:T>C,NM_000092.4:c.4081+757A>G,\N,\N,42/47,Benign,\N,intron_variant,0.336,0.5651,1KG_AFR_AF,COL4A4
465564,2:227891932:C>T,NM_000092.4:c.4081+686G>A,\N,\N,42/47,Benign,\N,intron_variant,5.313,0.5651,1KG_AFR_AF,COL4A4
465565,2:227891934:C>T,NM_000092.4:c.4081+684G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,5.242,0.0014,1KG_AMR_AF,COL4A4
465566,2:227891943:G>A,NM_000092.4:c.4081+675C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,2.297,0.001,1KG_EUR_AF,COL4A4
465567,2:227891957:G>C,NM_000092.4:c.4081+661C>G,\N,\N,42/47,Benign,\N,intron_variant,0.434,0.5651,1KG_AFR_AF,COL4A4
465568,2:227891965:C>A,NM_000092.4:c.4081+653G>T,\N,\N,42/47,Unknown significance,\N,intron_variant,10.29,\N,\N,COL4A4
465569,2:227891965:CA>C,NM_000092.4:c.4081+652del,\N,\N,42/47,Benign,\N,intron_variant,11.2,0.5143,1KG_SAS_AF,COL4A4
465570,2:227892011:C>T,NM_000092.4:c.4081+607G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.425,\N,\N,COL4A4
465571,2:227892037:T>C,NM_000092.4:c.4081+581A>G,\N,\N,42/47,Benign,\N,intron_variant,1.653,0.0393,1KG_AFR_AF,COL4A4
465572,2:227892109:C>T,NM_000092.4:c.4081+509G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.552,\N,\N,COL4A4
465573,2:227892123:C>T,NM_000092.4:c.4081+495G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,2.472,0.001,1KG_SAS_AF,COL4A4
465574,2:227892136:T>G,NM_000092.4:c.4081+482A>C,\N,\N,42/47,Benign,\N,intron_variant,4.674,0.0072,1KG_SAS_AF,COL4A4
465575,2:227892149:C>T,NM_000092.4:c.4081+469G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,4.543,\N,\N,COL4A4
465576,2:227892151:C>T,NM_000092.4:c.4081+467G>A,\N,\N,42/47,Benign,\N,intron_variant,3.608,0.0318,1KG_AFR_AF,COL4A4
465577,2:227892200:G>C,NM_000092.4:c.4081+418C>G,\N,\N,42/47,Benign,\N,intron_variant,0.261,0.5818,1KG_SAS_AF,COL4A4
465578,2:227892201:G>A,NM_000092.4:c.4081+417C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.452,0.001,1KG_EUR_AF,COL4A4
465579,2:227892207:G>A,NM_000092.4:c.4081+411C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.999,0.0041,1KG_SAS_AF,COL4A4
465580,2:227892207:G>C,NM_000092.4:c.4081+411C>G,\N,\N,42/47,Unknown significance,\N,intron_variant,0.327,\N,\N,COL4A4
465581,2:227892217:G>A,NM_000092.4:c.4081+401C>T,\N,\N,42/47,Benign,\N,intron_variant,5.394,0.5818,1KG_SAS_AF,COL4A4
465582,2:227892235:G>A,NM_000092.4:c.4081+383C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,8.161,0.002,1KG_SAS_AF,COL4A4
465583,2:227892256:G>C,NM_000092.4:c.4081+362C>G,\N,\N,42/47,Benign,\N,intron_variant,4.369,0.0923,1KG_AFR_AF,COL4A4
465584,2:227892296:A>G,NM_000092.4:c.4081+322T>C,\N,\N,42/47,Benign,\N,intron_variant,9.194,0.0295,1KG_AFR_AF,COL4A4
465585,2:227892315:G>A,NM_000092.4:c.4081+303C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,5.845,0.004,1KG_EAS_AF,COL4A4
465586,2:227892354:AAT>A,NM_000092.4:c.4081+262_4081+263del,\N,\N,42/47,Benign,\N,intron_variant,0.547,0.5643,1KG_AFR_AF,COL4A4
465587,2:227892354:AATAT>A,NM_000092.4:c.4081+260_4081+263del,\N,\N,42/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465588,2:227892356:T>A,NM_000092.4:c.4081+262A>T,\N,\N,42/47,Unknown significance,\N,intron_variant,4.456,\N,\N,COL4A4
465589,2:227892378:A>T,NM_000092.4:c.4081+240T>A,\N,\N,42/47,Unknown significance,\N,intron_variant,4.307,0.0015,1KG_AFR_AF,COL4A4
465590,2:227892383:ATAAAG>A,NM_000092.4:c.4081+230_4081+234del,\N,\N,42/47,Benign,\N,intron_variant,10.81,0.0318,1KG_AFR_AF,COL4A4
465591,2:227892397:A>T,NM_000092.4:c.4081+221T>A,\N,\N,42/47,Unknown significance,\N,intron_variant,9.31,0.002,1KG_SAS_AF,COL4A4
465592,2:227892428:T>C,NM_000092.4:c.4081+190A>G,\N,\N,42/47,Benign,\N,intron_variant,2.08,0.5651,1KG_AFR_AF,COL4A4
465593,2:227892473:G>A,NM_000092.4:c.4081+145C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,1.973,0.002,1KG_SAS_AF,COL4A4
465594,2:227892482:G>T,NM_000092.4:c.4081+136C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,2.557,\N,\N,COL4A4
465595,2:227892498:A>G,NM_000092.4:c.4081+120T>C,\N,\N,42/47,Benign,\N,intron_variant,3.895,0.1115,1KG_SAS_AF,COL4A4
465596,2:227892504:A>C,NM_000092.4:c.4081+114T>G,\N,\N,42/47,Unknown significance,\N,intron_variant,2.871,0.0000872905,EXAC_AMR_AF,COL4A4
465597,2:227892508:G>T,NM_000092.4:c.4081+110C>A,\N,\N,42/47,Unknown significance,\N,intron_variant,1.157,0.000112032,EXAC_AFR_AF,COL4A4
465598,2:227892509:G>A,NM_000092.4:c.4081+109C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,3.199,0.0000618659,EXAC_SAS_AF,COL4A4
465599,2:227892511:TTAAA>T,NM_000092.4:c.4081+103_4081+106del,\N,\N,42/47,Unknown significance,\N,intron_variant,8.135,0.0000872753,EXAC_AMR_AF,COL4A4
465600,2:227892513:AAAT>A,NM_000092.4:c.4081+102_4081+104del,\N,\N,42/47,Unknown significance,\N,intron_variant,3.059,0.0000156065,EXAC_NFE_AF,COL4A4
465601,2:227892519:TAAG>T,NM_000092.4:c.4081+96_4081+98del,\N,\N,42/47,Unknown significance,\N,intron_variant,10.34,0.0000155953,EXAC_NFE_AF,COL4A4
465602,2:227892521:A>C,NM_000092.4:c.4081+97T>G,\N,\N,42/47,Unknown significance,\N,intron_variant,4.813,0.0000615915,EXAC_SAS_AF,COL4A4
465603,2:227892534:A>G,NM_000092.4:c.4081+84T>C,\N,\N,42/47,Unknown significance,\N,intron_variant,11.28,0.000108601,EXAC_AFR_AF,COL4A4
465604,2:227892555:TC>T,NM_000092.4:c.4081+62del,\N,\N,42/47,Unknown significance,\N,intron_variant,2.491,0.000594389,EXAC_EAS_AF,COL4A4
465605,2:227892556:C>A,NM_000092.4:c.4081+62G>T,\N,\N,42/47,Unknown significance,\N,intron_variant,4.212,0.000105708,EXAC_AFR_AF,COL4A4
465606,2:227892561:C>T,NM_000092.4:c.4081+57G>A,\N,\N,42/47,Unknown significance,\N,intron_variant,2.008,0.000237586,EXAC_EAS_AF,COL4A4
465607,2:227892562:G>A,NM_000092.4:c.4081+56C>T,\N,\N,42/47,Benign,\N,intron_variant,3.854,0.00902224,EXAC_AFR_AF,COL4A4
465608,2:227892581:G>A,NM_000092.4:c.4081+37C>T,\N,\N,42/47,Unknown significance,\N,intron_variant,4.292,0.00011798,EXAC_EAS_AF,COL4A4
465609,2:227892602:TAGG>T,NM_000092.4:c.4081+13_4081+15del,\N,\N,42/47,Unknown significance,\N,intron_variant,4.176,\N,\N,COL4A4
465610,2:227892607:TGGA>T,NM_000092.4:c.4081+8_4081+10del,\N,\N,42/47,Unknown significance,\N,splice_region_variant&intron_variant,7.73,\N,\N,COL4A4
465611,2:227892609:G>C,NM_000092.4:c.4081+9C>G,\N,\N,42/47,Unknown significance,\N,intron_variant,3.138,\N,\N,COL4A4
465612,2:227892611:A>T,NM_000092.4:c.4081+7T>A,\N,\N,42/47,Unknown significance,\N,splice_region_variant&intron_variant,1.829,0.0000606575,EXAC_SAS_AF,COL4A4
465613,2:227892618:C>A,NM_000092.4:c.4081G>T,NP_000083.3:p.Gly1361Cys,42/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.9,0.000102838,EXAC_AFR_AF,COL4A4
465614,2:227892619:C>T,NM_000092.4:c.4080G>A,NP_000083.3:p.Pro1360=,42/48,\N,Benign,\N,splice_region_variant&synonymous_variant,9.286,0.5651,1KG_AFR_AF,COL4A4
465615,2:227892620:G>A,NM_000092.4:c.4079C>T,NP_000083.3:p.Pro1360Leu,42/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.6,0.0000150326,EXAC_NFE_AF,COL4A4
465616,2:227892641:C>T,NM_000092.4:c.4058G>A,NP_000083.3:p.Arg1353Lys,42/48,\N,Likely benign,\N,missense_variant,3.88,0.0000151044,EXAC_NFE_AF,COL4A4
465617,2:227892650:G>A,NM_000092.4:c.4049C>T,NP_000083.3:p.Pro1350Leu,42/48,\N,Likely benign,\N,missense_variant,20.3,\N,\N,COL4A4
465618,2:227892658:T>C,NM_000092.4:c.4041A>G,NP_000083.3:p.Leu1347=,42/48,\N,Benign,\N,synonymous_variant,8.238,0.093,1KG_AFR_AF,COL4A4
465619,2:227892661:A>G,NM_000092.4:c.4038T>C,NP_000083.3:p.Gly1346=,42/48,\N,Unknown significance,\N,synonymous_variant,9.046,0.001,1KG_SAS_AF,COL4A4
465620,2:227892663:C>A,NM_000092.4:c.4036G>T,NP_000083.3:p.Gly1346Cys,42/48,\N,Unknown significance,\N,missense_variant,28.3,0.0000611621,EXAC_SAS_AF,COL4A4
465621,2:227892677:G>T,NM_000092.4:c.4022C>A,NP_000083.3:p.Pro1341Gln,42/48,\N,Likely benign,\N,missense_variant,11.86,0.0000890313,EXAC_AMR_AF,COL4A4
465622,2:227892678:G>T,NM_000092.4:c.4021C>A,NP_000083.3:p.Pro1341Thr,42/48,\N,Likely benign,\N,missense_variant,5.064,0.002,1KG_EAS_AF,COL4A4
465623,2:227892692:T>C,NM_000092.4:c.4007A>G,NP_000083.3:p.His1336Arg,42/48,\N,Likely benign,\N,missense_variant,0.072,\N,\N,COL4A4
465624,2:227892704:G>A,NM_000092.4:c.3995C>T,NP_000083.3:p.Pro1332Leu,42/48,\N,Likely benign,\N,missense_variant,4.934,0.000545256,EVS_AA_AF,COL4A4
465625,2:227892709:C>T,NM_000092.4:c.3990G>A,NP_000083.3:p.Pro1330=,42/48,\N,Unknown significance,\N,synonymous_variant,11.24,0.000759878,EXAC_EAS_AF,COL4A4
465626,2:227892710:G>A,NM_000092.4:c.3989C>T,NP_000083.3:p.Pro1330Leu,42/48,\N,Unknown significance,\N,missense_variant,23,0.00145815,EXAC_NFE_AF,COL4A4
465627,2:227892715:T>A,NM_000092.4:c.3984A>T,NP_000083.3:p.Gly1328=,42/48,\N,Unknown significance,\N,synonymous_variant,11.94,0.0000637349,EXAC_SAS_AF,COL4A4
465628,2:227892720:C>T,NM_000092.4:c.3979G>A,NP_000083.3:p.Val1327Met,42/48,\N,Benign*,\N,missense_variant,14.35,0.569766,EXAC_SAS_AF,COL4A4
465629,2:227892721:T>C,NM_000092.4:c.3978A>G,NP_000083.3:p.Pro1326=,42/48,\N,Unknown significance,\N,synonymous_variant,0.635,\N,\N,COL4A4
465630,2:227892723:G>T,NM_000092.4:c.3976C>A,NP_000083.3:p.Pro1326Thr,42/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,16.66,0.0000729501,EXAC_SAS_AF,COL4A4
465631,2:227892728:T>TA,NM_000092.4:c.3974-4dup,\N,\N,41/47,Benign,\N,splice_region_variant&intron_variant,2.856,0.0376459,EXAC_SAS_AF,COL4A4
465632,2:227892728:T>TC,NM_000092.4:c.3974-4_3974-3insG,\N,\N,41/47,Unknown significance,\N,splice_region_variant&intron_variant,2.856,0.000203998,EXAC_AFR_AF,COL4A4
465633,2:227892728:TA>T,NM_000092.4:c.3974-4del,\N,\N,41/47,Unknown significance,\N,splice_region_variant&intron_variant,8.305,0.00190114,EXAC_OTH_AF,COL4A4
465634,2:227892730:A>T,NM_000092.4:c.3974-5T>A,\N,\N,41/47,Unknown significance,\N,splice_region_variant&intron_variant,5.839,\N,\N,COL4A4
465635,2:227892738:C>A,NM_000092.4:c.3974-13G>T,\N,\N,41/47,Unknown significance,\N,intron_variant,0.11,0.000123877,EXAC_NFE_AF,COL4A4
465636,2:227892744:A>G,NM_000092.4:c.3974-19T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,3.483,\N,\N,COL4A4
465637,2:227892762:G>C,NM_000092.4:c.3974-37C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,4.042,0.0000595238,EXAC_NFE_AF,COL4A4
465638,2:227892768:G>A,NM_000092.4:c.3974-43C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,2.937,\N,\N,COL4A4
465639,2:227892792:T>G,NM_000092.4:c.3974-67A>C,\N,\N,41/47,Unknown significance,\N,intron_variant,6.056,0.001,1KG_SAS_AF,COL4A4
465640,2:227892840:T>C,NM_000092.4:c.3974-115A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,3.691,\N,\N,COL4A4
465641,2:227892883:T>C,NM_000092.4:c.3974-158A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.827,0.001,1KG_EAS_AF,COL4A4
465642,2:227892885:G>A,NM_000092.4:c.3974-160C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,2.142,\N,\N,COL4A4
465643,2:227892885:G>C,NM_000092.4:c.3974-160C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.411,0.001,1KG_SAS_AF,COL4A4
465644,2:227892888:G>A,NM_000092.4:c.3974-163C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,3.041,0.0015,1KG_AFR_AF,COL4A4
465645,2:227892904:A>G,NM_000092.4:c.3974-179T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,5.954,\N,\N,COL4A4
465646,2:227892911:T>C,NM_000092.4:c.3974-186A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.432,\N,\N,COL4A4
465647,2:227892941:C>T,NM_000092.4:c.3974-216G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,3.485,0.001,1KG_SAS_AF,COL4A4
465648,2:227892947:T>G,NM_000092.4:c.3974-222A>C,\N,\N,41/47,Unknown significance,\N,intron_variant,5.964,\N,\N,COL4A4
465649,2:227892980:C>T,NM_000092.4:c.3974-255G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,3.972,\N,\N,COL4A4
465650,2:227892984:T>C,NM_000092.4:c.3974-259A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,1.532,\N,\N,COL4A4
465651,2:227892986:A>G,NM_000092.4:c.3974-261T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,6.207,\N,\N,COL4A4
465652,2:227893017:G>A,NM_000092.4:c.3974-292C>T,\N,\N,41/47,Benign,\N,intron_variant,5.172,0.5552,1KG_SAS_AF,COL4A4
465653,2:227893036:G>T,NM_000092.4:c.3974-311C>A,\N,\N,41/47,Benign,\N,intron_variant,2.275,0.0076,1KG_AFR_AF,COL4A4
465654,2:227893057:G>C,NM_000092.4:c.3974-332C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,1.088,0.0014,1KG_AMR_AF,COL4A4
465655,2:227893109:G>C,NM_000092.4:c.3974-384C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.843,0.001,1KG_SAS_AF,COL4A4
465656,2:227893122:C>T,NM_000092.4:c.3974-397G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,5.066,\N,\N,COL4A4
465657,2:227893127:C>T,NM_000092.4:c.3974-402G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,4.699,0.0008,1KG_AFR_AF,COL4A4
465658,2:227893133:C>T,NM_000092.4:c.3974-408G>A,\N,\N,41/47,Benign,\N,intron_variant,5.436,0.0083,1KG_AFR_AF,COL4A4
465659,2:227893142:G>C,NM_000092.4:c.3974-417C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.159,\N,\N,COL4A4
465660,2:227893163:C>T,NM_000092.4:c.3974-438G>A,\N,\N,41/47,Benign,\N,intron_variant,0.892,0.0386,1KG_AFR_AF,COL4A4
465661,2:227893248:T>A,NM_000092.4:c.3974-523A>T,\N,\N,41/47,Unknown significance,\N,intron_variant,5.251,0.001,1KG_SAS_AF,COL4A4
465662,2:227893360:T>TTTA,NM_000092.4:c.3974-638_3974-636dup,\N,\N,41/47,Unknown significance,\N,intron_variant,2.818,\N,\N,COL4A4
465663,2:227893360:T>TTTATTATTATTA,NM_000092.4:c.3974-647_3974-636dup,\N,\N,41/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465664,2:227893360:TTTA>T,NM_000092.4:c.3974-638_3974-636del,\N,\N,41/47,Unknown significance,\N,intron_variant,7.516,\N,\N,COL4A4
465665,2:227893360:TTTATTATTA>T,NM_000092.4:c.3974-644_3974-636del,\N,\N,41/47,Unknown significance,\N,intron_variant,7.224,\N,\N,COL4A4
465666,2:227893383:T>G,NM_000092.4:c.3974-658A>C,\N,\N,41/47,Unknown significance,\N,intron_variant,6.827,\N,\N,COL4A4
465667,2:227893392:T>G,NM_000092.4:c.3974-667A>C,\N,\N,41/47,Benign,\N,intron_variant,9,0.0051,1KG_SAS_AF,COL4A4
465668,2:227893393:A>T,NM_000092.4:c.3974-668T>A,\N,\N,41/47,Unknown significance,\N,intron_variant,7.696,\N,\N,COL4A4
465669,2:227893425:G>A,NM_000092.4:c.3974-700C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,10.19,0.0008,1KG_AFR_AF,COL4A4
465670,2:227893453:C>T,NM_000092.4:c.3974-728G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,8.501,0.0008,1KG_AFR_AF,COL4A4
465671,2:227893472:A>G,NM_000092.4:c.3974-747T>C,\N,\N,41/47,Benign,\N,intron_variant,4.863,0.0083,1KG_AFR_AF,COL4A4
465672,2:227893474:C>T,NM_000092.4:c.3974-749G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,0.058,0.001,1KG_EAS_AF,COL4A4
465673,2:227893491:C>T,NM_000092.4:c.3974-766G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,3.022,0.001,1KG_EUR_AF,COL4A4
465674,2:227893522:C>T,NM_000092.4:c.3974-797G>A,\N,\N,41/47,Benign,\N,intron_variant,5.192,0.0098,1KG_AFR_AF,COL4A4
465675,2:227893540:T>G,NM_000092.4:c.3974-815A>C,\N,\N,41/47,Unknown significance,\N,intron_variant,6.467,0.0015,1KG_AFR_AF,COL4A4
465676,2:227893561:T>G,NM_000092.4:c.3974-836A>C,\N,\N,41/47,Benign,\N,intron_variant,3.987,0.7262,1KG_AFR_AF,COL4A4
465677,2:227893564:G>A,NM_000092.4:c.3974-839C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,3.467,0.0008,1KG_AFR_AF,COL4A4
465678,2:227893660:A>G,NM_000092.4:c.3974-935T>C,\N,\N,41/47,Benign,\N,intron_variant,2.081,0.5552,1KG_SAS_AF,COL4A4
465679,2:227893674:C>T,NM_000092.4:c.3974-949G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,0.491,\N,\N,COL4A4
465680,2:227893705:C>T,NM_000092.4:c.3974-980G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,5.311,\N,\N,COL4A4
465681,2:227893706:TACTTA>T,NM_000092.4:c.3974-986_3974-982del,\N,\N,41/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465682,2:227893747:G>C,NM_000092.4:c.3974-1022C>G,\N,\N,41/47,Benign,\N,intron_variant,0.096,0.5651,1KG_AFR_AF,COL4A4
465683,2:227893752:A>G,NM_000092.4:c.3974-1027T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,1.435,0.004,1KG_EAS_AF,COL4A4
465684,2:227893759:A>T,NM_000092.4:c.3974-1034T>A,\N,\N,41/47,Benign,\N,intron_variant,1.029,0.0189,1KG_AFR_AF,COL4A4
465685,2:227893863:C>T,NM_000092.4:c.3974-1138G>A,\N,\N,41/47,Benign,\N,intron_variant,3.463,0.5658,1KG_AFR_AF,COL4A4
465686,2:227893890:G>T,NM_000092.4:c.3974-1165C>A,\N,\N,41/47,Unknown significance,\N,intron_variant,1.292,\N,\N,COL4A4
465687,2:227893902:G>T,NM_000092.4:c.3974-1177C>A,\N,\N,41/47,Benign,\N,intron_variant,0.651,0.0199,1KG_EUR_AF,COL4A4
465688,2:227893973:C>G,NM_000092.4:c.3973+1186G>C,\N,\N,41/47,Unknown significance,\N,intron_variant,4.88,0.001,1KG_SAS_AF,COL4A4
465689,2:227893974:C>T,NM_000092.4:c.3973+1185G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,6.14,0.001,1KG_EAS_AF,COL4A4
465690,2:227893986:AAGG>A,NM_000092.4:c.3973+1170_3973+1172del,\N,\N,41/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465691,2:227894051:G>A,NM_000092.4:c.3973+1108C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,2.252,\N,\N,COL4A4
465692,2:227894158:C>T,NM_000092.4:c.3973+1001G>A,\N,\N,41/47,Benign,\N,intron_variant,3.066,0.0499,1KG_AFR_AF,COL4A4
465693,2:227894217:C>T,NM_000092.4:c.3973+942G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,2.839,0.0014,1KG_AMR_AF,COL4A4
465694,2:227894218:G>A,NM_000092.4:c.3973+941C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,1.351,0.0008,1KG_AFR_AF,COL4A4
465695,2:227894293:C>A,NM_000092.4:c.3973+866G>T,\N,\N,41/47,Unknown significance,\N,intron_variant,5.572,\N,\N,COL4A4
465696,2:227894330:C>A,NM_000092.4:c.3973+829G>T,\N,\N,41/47,Unknown significance,\N,intron_variant,0.657,0.001,1KG_EUR_AF,COL4A4
465697,2:227894340:ATCCAGCT>A,NM_000092.4:c.3973+812_3973+818del,\N,\N,41/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465698,2:227894358:T>C,NM_000092.4:c.3973+801A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,12.22,0.0008,1KG_AFR_AF,COL4A4
465699,2:227894372:T>C,NM_000092.4:c.3973+787A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,2.582,0.0008,1KG_AFR_AF,COL4A4
465700,2:227894432:C>A,NM_000092.4:c.3973+727G>T,\N,\N,41/47,Benign,\N,intron_variant,1.493,0.0833,1KG_EAS_AF,COL4A4
465701,2:227894466:C>CA,NM_000092.4:c.3973+692dup,\N,\N,41/47,Unknown significance,\N,intron_variant,10.65,\N,\N,COL4A4
465702,2:227894483:A>G,NM_000092.4:c.3973+676T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,3.504,0.001,1KG_SAS_AF,COL4A4
465703,2:227894495:T>A,NM_000092.4:c.3973+664A>T,\N,\N,41/47,Unknown significance,\N,intron_variant,3.616,0.001,1KG_EAS_AF,COL4A4
465704,2:227894525:G>A,NM_000092.4:c.3973+634C>T,\N,\N,41/47,Benign,\N,intron_variant,8.344,0.0072,1KG_AMR_AF,COL4A4
465705,2:227894541:G>A,NM_000092.4:c.3973+618C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,4.737,\N,\N,COL4A4
465706,2:227894543:G>C,NM_000092.4:c.3973+616C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,1.537,\N,\N,COL4A4
465707,2:227894554:G>C,NM_000092.4:c.3973+605C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,6.777,0.001,1KG_SAS_AF,COL4A4
465708,2:227894581:T>TA,NM_000092.4:c.3973+577dup,\N,\N,41/47,Benign,\N,intron_variant,12.48,0.0173,1KG_AMR_AF,COL4A4
465709,2:227894602:A>G,NM_000092.4:c.3973+557T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,0.777,\N,\N,COL4A4
465710,2:227894635:T>G,NM_000092.4:c.3973+524A>C,\N,\N,41/47,Unknown significance,\N,intron_variant,8.99,\N,\N,COL4A4
465711,2:227894744:C>T,NM_000092.4:c.3973+415G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,2.99,\N,\N,COL4A4
465712,2:227894771:A>G,NM_000092.4:c.3973+388T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,0.841,0.0023,1KG_AFR_AF,COL4A4
465713,2:227894787:T>C,NM_000092.4:c.3973+372A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.944,\N,\N,COL4A4
465714,2:227894807:AATAT>A,NM_000092.4:c.3973+348_3973+351del,\N,\N,41/47,Unknown significance,\N,intron_variant,9.91,\N,\N,COL4A4
465715,2:227894808:ATATAT>A,NM_000092.4:c.3973+346_3973+350del,\N,\N,41/47,Benign,\N,intron_variant,9.956,0.1271,1KG_AFR_AF,COL4A4
465716,2:227894818:T>C,NM_000092.4:c.3973+341A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,7.278,0.001,1KG_SAS_AF,COL4A4
465717,2:227894859:C>T,NM_000092.4:c.3973+300G>A,\N,\N,41/47,Benign,\N,intron_variant,1.895,1,1KG_EAS_AF|1KG_SAS_AF,COL4A4
465718,2:227894867:T>C,NM_000092.4:c.3973+292A>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.901,0.001,1KG_EUR_AF,COL4A4
465719,2:227895017:G>A,NM_000092.4:c.3973+142C>T,\N,\N,41/47,Benign,\N,intron_variant,1.994,0.006,1KG_EAS_AF,COL4A4
465720,2:227895027:G>A,NM_000092.4:c.3973+132C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,8.175,\N,\N,COL4A4
465721,2:227895052:G>A,NM_000092.4:c.3973+107C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,8.872,0.002,1KG_SAS_AF,COL4A4
465722,2:227895083:C>T,NM_000092.4:c.3973+76G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,0.093,0.0031,1KG_SAS_AF,COL4A4
465723,2:227895084:G>A,NM_000092.4:c.3973+75C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,0.863,0.001,1KG_SAS_AF,COL4A4
465724,2:227895097:A>T,NM_000092.4:c.3973+62T>A,\N,\N,41/47,Unknown significance,\N,intron_variant,5.045,\N,\N,COL4A4
465725,2:227895108:G>A,NM_000092.4:c.3973+51C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,3.102,0.000115955,EXAC_EAS_AF,COL4A4
465726,2:227895111:A>C,NM_000092.4:c.3973+48T>G,\N,\N,41/47,Unknown significance,\N,intron_variant,0.932,0.000263296,EVS_AA_AF,COL4A4
465727,2:227895111:A>G,NM_000092.4:c.3973+48T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,2.469,0.000231911,EXAC_EAS_AF,COL4A4
465728,2:227895112:A>G,NM_000092.4:c.3973+47T>C,\N,\N,41/47,Unknown significance,\N,intron_variant,3.552,0.0000149907,EXAC_NFE_AF,COL4A4
465729,2:227895113:G>A,NM_000092.4:c.3973+46C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,2.02,0.000060562,EXAC_SAS_AF,COL4A4
465730,2:227895118:C>T,NM_000092.4:c.3973+41G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,0.213,0.000151286,EXAC_FIN_AF,COL4A4
465731,2:227895125:A>G,NM_000092.4:c.3973+34T>C,\N,\N,41/47,Benign,\N,intron_variant,1.472,0.5736,1KG_SAS_AF,COL4A4
465732,2:227895142:C>T,NM_000092.4:c.3973+17G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,0.262,0.0000863856,EXAC_AMR_AF,COL4A4
465733,2:227895143:G>A,NM_000092.4:c.3973+16C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,6.492,0.000121095,EVS_EA_AF,COL4A4
465734,2:227895144:G>A,NM_000092.4:c.3973+15C>T,\N,\N,41/47,Unknown significance,\N,intron_variant,7.43,0.0014,1KG_AMR_AF,COL4A4
465735,2:227895144:G>C,NM_000092.4:c.3973+15C>G,\N,\N,41/47,Unknown significance,\N,intron_variant,4.624,0.00010202,EXAC_AFR_AF,COL4A4
465736,2:227895150:C>T,NM_000092.4:c.3973+9G>A,\N,\N,41/47,Unknown significance,\N,intron_variant,16.12,0.000231857,EXAC_EAS_AF,COL4A4
465737,2:227895157:A>C,NM_000092.4:c.3973+2T>G,\N,\N,41/47,Unknown significance,\N,splice_donor_variant,24.4,0.0000149858,EXAC_NFE_AF,COL4A4
465738,2:227895158:C>T,NM_000092.4:c.3973+1G>A,\N,\N,41/47,Unknown significance,\N,splice_donor_variant,26.7,0.0000149853,EXAC_NFE_AF,COL4A4
465739,2:227895159:C>G,NM_000092.4:c.3973G>C,NP_000083.3:p.Gly1325Arg,41/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.8,0.00030281,EXAC_SAS_AF,COL4A4
465740,2:227895165:G>A,NM_000092.4:c.3967C>T,NP_000083.3:p.Gln1323Ter,41/48,\N,Pathogenic,Alport syndrome,stop_gained,45,\N,\N,COL4A4
465741,2:227895169:A>G,NM_000092.4:c.3963T>C,NP_000083.3:p.Asp1321=,41/48,\N,Benign,\N,synonymous_variant,7.543,0.0363,1KG_AFR_AF,COL4A4
465742,2:227895175:T>C,NM_000092.4:c.3957A>G,NP_000083.3:p.Gly1319=,41/48,\N,Unknown significance,\N,synonymous_variant,4.964,0.000545058,EXAC_SAS_AF,COL4A4
465743,2:227895208:AG>A,NM_000092.4:c.3923del,NP_000083.3:p.Pro1308LeufsTer80,41/48,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,COL4A4
465744,2:227895214:T>C,NM_000092.4:c.3918A>G,NP_000083.3:p.Pro1306=,41/48,\N,Unknown significance,\N,synonymous_variant,1.861,0.000231965,EXAC_EAS_AF,COL4A4
465745,2:227895217:TG>T,NM_000092.4:c.3914del,NP_000083.3:p.Pro1305HisfsTer83,41/48,\N,Unknown significance,\N,frameshift_variant,27.4,0.0000299823,EXAC_NFE_AF,COL4A4
465746,2:227895218:G>A,NM_000092.4:c.3914C>T,NP_000083.3:p.Pro1305Leu,41/48,\N,Likely benign,\N,missense_variant,7.735,0.000432227,EXAC_AMR_AF,COL4A4
465747,2:227895219:G>C,NM_000092.4:c.3913C>G,NP_000083.3:p.Pro1305Ala,41/48,\N,Unknown significance,\N,missense_variant,7.882,0.0000299832,EXAC_NFE_AF,COL4A4
465748,2:227895230:C>A,NM_000092.4:c.3902G>T,NP_000083.3:p.Gly1301Val,41/48,\N,Unknown significance,\N,missense_variant,24.5,0.0000150029,EXAC_NFE_AF,COL4A4
465749,2:227895232:T>G,NM_000092.4:c.3900A>C,NP_000083.3:p.Pro1300=,41/48,\N,Unknown significance,\N,synonymous_variant,9.492,0.000060562,EXAC_SAS_AF,COL4A4
465750,2:227895242:G>C,NM_000092.4:c.3890C>G,NP_000083.3:p.Pro1297Arg,41/48,\N,Unknown significance,\N,missense_variant,15.07,0.00011609,EXAC_EAS_AF,COL4A4
465751,2:227895247:A>G,NM_000092.4:c.3885T>C,NP_000083.3:p.Gly1295=,41/48,\N,Unknown significance,\N,synonymous_variant,6.133,0.00111111,EXAC_OTH_AF,COL4A4
465752,2:227895261:G>C,NM_000092.4:c.3871C>G,NP_000083.3:p.Pro1291Ala,41/48,\N,Benign,\N,missense_variant,14.33,0.028,1KG_AFR_AF,COL4A4
465753,2:227895266:C>G,NM_000092.4:c.3866G>C,NP_000083.3:p.Gly1289Ala,41/48,\N,Unknown significance,\N,missense_variant,23.8,0.0000150466,EXAC_NFE_AF,COL4A4
465754,2:227895270:T>G,NM_000092.4:c.3862A>C,NP_000083.3:p.Arg1288=,41/48,\N,Unknown significance,\N,synonymous_variant,1.301,0.0008,1KG_AFR_AF,COL4A4
465755,2:227895273:G>C,NM_000092.4:c.3859C>G,NP_000083.3:p.Leu1287Val,41/48,\N,Unknown significance,\N,missense_variant,8.807,0.0023,1KG_AFR_AF,COL4A4
465756,2:227895279:C>A,NM_000092.4:c.3853G>T,NP_000083.3:p.Asp1285Tyr,41/48,\N,Likely benign,\N,missense_variant,21.9,0.001,1KG_SAS_AF,COL4A4
465757,2:227895288:C>T,NM_000092.4:c.3844G>A,NP_000083.3:p.Gly1282Arg,41/48,\N,Unknown significance,\N,missense_variant,24,0.0000151387,EXAC_NFE_AF,COL4A4
465758,2:227895293:A>T,NM_000092.4:c.3839T>A,NP_000083.3:p.Leu1280His,41/48,\N,Likely benign,\N,missense_variant,10.42,0.000174307,EXAC_AMR_AF,COL4A4
465759,2:227895304:C>T,NM_000092.4:c.3828G>A,NP_000083.3:p.Gly1276=,41/48,\N,Unknown significance,\N,synonymous_variant,16.29,0.0000305689,EXAC_NFE_AF,COL4A4
465760,2:227895309:G>A,NM_000092.4:c.3823C>T,NP_000083.3:p.Pro1275Ser,41/48,\N,Unknown significance,\N,missense_variant,19.19,0.0000661551,EXAC_SAS_AF,COL4A4
465761,2:227895311:G>A,NM_000092.4:c.3821C>T,NP_000083.3:p.Ala1274Val,41/48,\N,Likely benign,\N,missense_variant,12.75,0.0000668003,EXAC_SAS_AF,COL4A4
465762,2:227895319:C>A,NM_000092.4:c.3818-5G>T,\N,\N,40/47,Unknown significance,\N,splice_region_variant&intron_variant,13.47,0.000107181,EXAC_AFR_AF,COL4A4
465763,2:227895320:C>A,NM_000092.4:c.3818-6G>T,\N,\N,40/47,Unknown significance,\N,splice_region_variant&intron_variant,14.7,0.000107527,EXAC_AFR_AF,COL4A4
465764,2:227895329:G>A,NM_000092.4:c.3818-15C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,0.947,0.00383688,EXAC_AFR_AF,COL4A4
465765,2:227895333:C>A,NM_000092.4:c.3818-19G>T,\N,\N,40/47,Unknown significance,\N,intron_variant,0.717,0.000031901,EXAC_NFE_AF,COL4A4
465766,2:227895340:A>G,NM_000092.4:c.3818-26T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,11.54,0.0000321368,EXAC_NFE_AF,COL4A4
465767,2:227895343:C>A,NM_000092.4:c.3818-29G>T,\N,\N,40/47,Unknown significance,\N,intron_variant,14.1,0.0000161723,EXAC_NFE_AF,COL4A4
465768,2:227895356:A>G,NM_000092.4:c.3818-42T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,14.31,0.000366928,EVS_EA_AF,COL4A4
465769,2:227895357:C>T,NM_000092.4:c.3818-43G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,13.85,0.000101792,EXAC_SAS_AF,COL4A4
465770,2:227895358:G>A,NM_000092.4:c.3818-44C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,10.43,0.00388784,EXAC_AFR_AF,COL4A4
465771,2:227895359:A>T,NM_000092.4:c.3818-45T>A,\N,\N,40/47,Benign,\N,intron_variant,9.966,0.0199,1KG_EUR_AF,COL4A4
465772,2:227895370:T>G,NM_000092.4:c.3818-56A>C,\N,\N,40/47,Unknown significance,\N,intron_variant,2.29,\N,\N,COL4A4
465773,2:227895388:C>T,NM_000092.4:c.3818-74G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,2.474,0.0008,1KG_AFR_AF,COL4A4
465774,2:227895389:G>A,NM_000092.4:c.3818-75C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,2.185,0.0008,1KG_AFR_AF,COL4A4
465775,2:227895460:C>T,NM_000092.4:c.3818-146G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,5.373,\N,\N,COL4A4
465776,2:227895462:G>A,NM_000092.4:c.3818-148C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,3.949,\N,\N,COL4A4
465777,2:227895512:AT>A,NM_000092.4:c.3818-199del,\N,\N,40/47,Benign,\N,intron_variant,2.051,0.0082,1KG_SAS_AF,COL4A4
465778,2:227895516:G>A,NM_000092.4:c.3818-202C>T,\N,\N,40/47,Benign,\N,intron_variant,3.579,0.0219,1KG_AFR_AF,COL4A4
465779,2:227895542:C>T,NM_000092.4:c.3818-228G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,2.564,0.0014,1KG_AMR_AF,COL4A4
465780,2:227895552:C>G,NM_000092.4:c.3818-238G>C,\N,\N,40/47,Unknown significance,\N,intron_variant,3.907,\N,\N,COL4A4
465781,2:227895558:T>C,NM_000092.4:c.3818-244A>G,\N,\N,40/47,Unknown significance,\N,intron_variant,3.921,0.002,1KG_EUR_AF,COL4A4
465782,2:227895632:A>AGATG,NM_000092.4:c.3818-322_3818-319dup,\N,\N,40/47,Unknown significance,\N,intron_variant,0.181,\N,\N,COL4A4
465783,2:227895632:AGATG>A,NM_000092.4:c.3818-322_3818-319del,\N,\N,40/47,Unknown significance,\N,intron_variant,3.805,\N,\N,COL4A4
465784,2:227895632:AGATGGATG>A,NM_000092.4:c.3818-326_3818-319del,\N,\N,40/47,Unknown significance,\N,intron_variant,3.439,\N,\N,COL4A4
465785,2:227895637:G>T,NM_000092.4:c.3818-323C>A,\N,\N,40/47,Unknown significance,\N,intron_variant,1.101,0.0008,1KG_AFR_AF,COL4A4
465786,2:227895640:G>GGGAT,NM_000092.4:c.3818-327_3818-326insATCC,\N,\N,40/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465787,2:227895668:G>T,NM_000092.4:c.3818-354C>A,\N,\N,40/47,Unknown significance,\N,intron_variant,0.963,\N,\N,COL4A4
465788,2:227895682:A>ATGGG,NM_000092.4:c.3818-369_3818-368insCCCA,\N,\N,40/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465789,2:227895682:ATAGG>A,NM_000092.4:c.3818-372_3818-369del,\N,\N,40/47,Unknown significance,\N,intron_variant,4.786,\N,\N,COL4A4
465790,2:227895695:CGGTT>C,NM_000092.4:c.3818-385_3818-382del,\N,\N,40/47,Benign,\N,intron_variant,2.737,0.0865,1KG_EUR_AF,COL4A4
465791,2:227895698:T>A,NM_000092.4:c.3818-384A>T,\N,\N,40/47,Unknown significance,\N,intron_variant,1.193,\N,\N,COL4A4
465792,2:227895732:T>C,NM_000092.4:c.3818-418A>G,\N,\N,40/47,Unknown significance,\N,intron_variant,0.592,\N,\N,COL4A4
465793,2:227895734:T>G,NM_000092.4:c.3818-420A>C,\N,\N,40/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
465794,2:227895753:GGACA>G,NM_000092.4:c.3818-443_3818-440del,\N,\N,40/47,Unknown significance,\N,intron_variant,6.7,\N,\N,COL4A4
465795,2:227895756:C>T,NM_000092.4:c.3818-442G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,0.107,\N,\N,COL4A4
465796,2:227895757:A>AGATGGATGGATG,NM_000092.4:c.3818-455_3818-444dup,\N,\N,40/47,Unknown significance,\N,intron_variant,0.03,\N,\N,COL4A4
465797,2:227895757:A>AGATGGATGGATGGATG,NM_000092.4:c.3818-459_3818-444dup,\N,\N,40/47,Unknown significance,\N,intron_variant,0.022,\N,\N,COL4A4
465798,2:227895757:A>G,NM_000092.4:c.3818-443T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,0.911,\N,\N,COL4A4
465799,2:227895785:G>A,NM_000092.4:c.3818-471C>T,\N,\N,40/47,Benign,\N,intron_variant,2.949,0.0333,1KG_AFR_AF,COL4A4
465800,2:227895789:A>G,NM_000092.4:c.3818-475T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,0.345,\N,\N,COL4A4
465801,2:227895792:C>T,NM_000092.4:c.3818-478G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,0.454,\N,\N,COL4A4
465802,2:227895793:T>G,NM_000092.4:c.3818-479A>C,\N,\N,40/47,Unknown significance,\N,intron_variant,0.358,\N,\N,COL4A4
465803,2:227895800:C>T,NM_000092.4:c.3818-486G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,4.98,\N,\N,COL4A4
465804,2:227895801:A>G,NM_000092.4:c.3818-487T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,2.43,\N,\N,COL4A4
465805,2:227895804:TAGAC>T,NM_000092.4:c.3818-494_3818-491del,\N,\N,40/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465806,2:227895807:A>G,NM_000092.4:c.3818-493T>C,\N,\N,40/47,Benign,\N,intron_variant,3.256,0.0061,1KG_SAS_AF,COL4A4
465807,2:227895809:A>G,NM_000092.4:c.3818-495T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,1.997,\N,\N,COL4A4
465808,2:227895832:G>A,NM_000092.4:c.3818-518C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,2.457,\N,\N,COL4A4
465809,2:227895836:G>A,NM_000092.4:c.3818-522C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,3.252,\N,\N,COL4A4
465810,2:227895850:C>G,NM_000092.4:c.3818-536G>C,\N,\N,40/47,Unknown significance,\N,intron_variant,5.671,0.0008,1KG_AFR_AF,COL4A4
465811,2:227895893:A>G,NM_000092.4:c.3818-579T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,2.328,0.003,1KG_AFR_AF,COL4A4
465812,2:227895943:T>C,NM_000092.4:c.3818-629A>G,\N,\N,40/47,Unknown significance,\N,intron_variant,1.415,0.001,1KG_SAS_AF,COL4A4
465813,2:227895947:G>A,NM_000092.4:c.3818-633C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,1.324,0.0038,1KG_AFR_AF,COL4A4
465814,2:227895976:G>A,NM_000092.4:c.3818-662C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,2.384,\N,\N,COL4A4
465815,2:227896065:G>A,NM_000092.4:c.3817+596C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,7.091,\N,\N,COL4A4
465816,2:227896119:C>T,NM_000092.4:c.3817+542G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,4.092,\N,\N,COL4A4
465817,2:227896121:C>G,NM_000092.4:c.3817+540G>C,\N,\N,40/47,Unknown significance,\N,intron_variant,1.624,\N,\N,COL4A4
465818,2:227896131:C>A,NM_000092.4:c.3817+530G>T,\N,\N,40/47,Unknown significance,\N,intron_variant,5.689,\N,\N,COL4A4
465819,2:227896152:T>G,NM_000092.4:c.3817+509A>C,\N,\N,40/47,Unknown significance,\N,intron_variant,3.591,\N,\N,COL4A4
465820,2:227896189:G>A,NM_000092.4:c.3817+472C>T,\N,\N,40/47,Benign,\N,intron_variant,0.841,0.0446,1KG_AFR_AF,COL4A4
465821,2:227896204:A>G,NM_000092.4:c.3817+457T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,1.109,\N,\N,COL4A4
465822,2:227896293:T>G,NM_000092.4:c.3817+368A>C,\N,\N,40/47,Unknown significance,\N,intron_variant,4.313,\N,\N,COL4A4
465823,2:227896298:G>T,NM_000092.4:c.3817+363C>A,\N,\N,40/47,Unknown significance,\N,intron_variant,0.565,\N,\N,COL4A4
465824,2:227896321:A>AG,NM_000092.4:c.3817+339dup,\N,\N,40/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465825,2:227896330:C>T,NM_000092.4:c.3817+331G>A,\N,\N,40/47,Benign,\N,intron_variant,0.899,0.5736,1KG_SAS_AF,COL4A4
465826,2:227896331:G>A,NM_000092.4:c.3817+330C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,0.913,0.0038,1KG_AFR_AF,COL4A4
465827,2:227896382:T>C,NM_000092.4:c.3817+279A>G,\N,\N,40/47,Benign,\N,intron_variant,1.37,0.0287,1KG_AFR_AF,COL4A4
465828,2:227896388:G>A,NM_000092.4:c.3817+273C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,6.249,0.003,1KG_EAS_AF,COL4A4
465829,2:227896392:C>T,NM_000092.4:c.3817+269G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,2.042,0.004,1KG_EUR_AF,COL4A4
465830,2:227896396:T>C,NM_000092.4:c.3817+265A>G,\N,\N,40/47,Unknown significance,\N,intron_variant,5.509,0.002,1KG_EUR_AF,COL4A4
465831,2:227896405:G>T,NM_000092.4:c.3817+256C>A,\N,\N,40/47,Unknown significance,\N,intron_variant,1.025,\N,\N,COL4A4
465832,2:227896423:C>G,NM_000092.4:c.3817+238G>C,\N,\N,40/47,Benign,\N,intron_variant,0.1,0.0507,1KG_EUR_AF,COL4A4
465833,2:227896432:A>T,NM_000092.4:c.3817+229T>A,\N,\N,40/47,Benign,\N,intron_variant,2.592,0.5736,1KG_SAS_AF,COL4A4
465834,2:227896455:G>A,NM_000092.4:c.3817+206C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,4.016,0.0008,1KG_AFR_AF,COL4A4
465835,2:227896474:A>G,NM_000092.4:c.3817+187T>C,\N,\N,40/47,Unknown significance,\N,intron_variant,17.07,0.0015,1KG_AFR_AF,COL4A4
465836,2:227896478:G>A,NM_000092.4:c.3817+183C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,17.62,\N,\N,COL4A4
465837,2:227896533:G>A,NM_000092.4:c.3817+128C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,3.648,0.001,1KG_EAS_AF,COL4A4
465838,2:227896538:G>A,NM_000092.4:c.3817+123C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,4.555,\N,\N,COL4A4
465839,2:227896543:G>A,NM_000092.4:c.3817+118C>T,\N,\N,40/47,Unknown significance,\N,intron_variant,1.531,0.003,1KG_AFR_AF,COL4A4
465840,2:227896544:C>T,NM_000092.4:c.3817+117G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,2.183,0.0041,1KG_SAS_AF,COL4A4
465841,2:227896557:G>T,NM_000092.4:c.3817+104C>A,\N,\N,40/47,Unknown significance,\N,intron_variant,3.677,0.001,1KG_EUR_AF,COL4A4
465842,2:227896578:C>T,NM_000092.4:c.3817+83G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,3.908,\N,\N,COL4A4
465843,2:227896582:C>T,NM_000092.4:c.3817+79G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,3.482,0.001,1KG_EAS_AF,COL4A4
465844,2:227896590:C>T,NM_000092.4:c.3817+71G>A,\N,\N,40/47,Unknown significance,\N,intron_variant,5.763,0.001,1KG_EUR_AF,COL4A4
465845,2:227896594:A>T,NM_000092.4:c.3817+67T>A,\N,\N,40/47,Unknown significance,\N,intron_variant,0.762,0.002,1KG_EUR_AF,COL4A4
465846,2:227896606:C>G,NM_000092.4:c.3817+55G>C,\N,\N,40/47,Unknown significance,\N,intron_variant,3.333,0.001,1KG_SAS_AF,COL4A4
465847,2:227896631:C>A,NM_000092.4:c.3817+30G>T,\N,\N,40/47,Unknown significance,\N,intron_variant,3.064,0.000018005,EXAC_NFE_AF,COL4A4
465848,2:227896644:T>C,NM_000092.4:c.3817+17A>G,\N,\N,40/47,Unknown significance,\N,intron_variant,1.55,0.000115687,EXAC_AFR_AF,COL4A4
465849,2:227896646:A>T,NM_000092.4:c.3817+15T>A,\N,\N,40/47,Unknown significance,\N,intron_variant,1.544,0.0008,1KG_AFR_AF,COL4A4
465850,2:227896652:C>G,NM_000092.4:c.3817+9G>C,\N,\N,40/47,Benign,\N,intron_variant,1.846,0.579127,EXAC_SAS_AF,COL4A4
465851,2:227896660:C>T,NM_000092.4:c.3817+1G>A,\N,\N,40/47,Unknown significance,\N,splice_donor_variant,25.8,0.0000152858,EXAC_NFE_AF,COL4A4
465852,2:227896660:C>A,NM_000092.4:c.3817+1G>T,\N,\N,40/47,Pathogenic,Alport syndrome,splice_donor_variant,26,\N,\N,COL4A4
465853,2:227896665:T>G,NM_000092.4:c.3813A>C,NP_000083.3:p.Pro1271=,40/48,\N,Unknown significance,\N,synonymous_variant,9.164,0.0000152198,EXAC_NFE_AF,COL4A4
465854,2:227896666:G>T,NM_000092.4:c.3812C>A,NP_000083.3:p.Pro1271Gln,40/48,\N,Unknown significance,\N,missense_variant,20.1,0.000120424,EVS_EA_AF,COL4A4
465855,2:227896672:T>C,NM_000092.4:c.3806A>G,NP_000083.3:p.Asp1269Gly,40/48,\N,Unknown significance,\N,missense_variant,19.6,0.0008,1KG_AFR_AF,COL4A4
465856,2:227896673:C>G,NM_000092.4:c.3805G>C,NP_000083.3:p.Asp1269His,40/48,\N,Unknown significance,\N,missense_variant,21,0.0000151524,EXAC_NFE_AF,COL4A4
465857,2:227896682:G>A,NM_000092.4:c.3796C>T,NP_000083.3:p.Pro1266Ser,40/48,\N,Unknown significance,\N,missense_variant,23.7,\N,\N,COL4A4
465858,2:227896685:G>A,NM_000092.4:c.3793C>T,NP_000083.3:p.Pro1265Ser,40/48,\N,Likely benign,\N,missense_variant,14.81,0.0000611247,EXAC_SAS_AF,COL4A4
465859,2:227896687:C>A,NM_000092.4:c.3791G>T,NP_000083.3:p.Gly1264Val,40/48,\N,Unknown significance,\N,missense_variant,25,0.00012089,EVS_EA_AF,COL4A4
465860,2:227896698:A>C,NM_000092.4:c.3780T>G,NP_000083.3:p.Pro1260=,40/48,\N,Unknown significance,\N,synonymous_variant,0.643,0.0000301268,EXAC_NFE_AF,COL4A4
465861,2:227896706:C>G,NM_000092.4:c.3772G>C,NP_000083.3:p.Gly1258Arg,40/48,\N,Unknown significance,\N,missense_variant,23.9,0.0000869565,EXAC_AMR_AF,COL4A4
465862,2:227896708:G>A,NM_000092.4:c.3770C>T,NP_000083.3:p.Pro1257Leu,40/48,\N,Unknown significance,\N,missense_variant,22.9,0.000232992,EXAC_EAS_AF,COL4A4
465863,2:227896708:G>C,NM_000092.4:c.3770C>G,NP_000083.3:p.Pro1257Arg,40/48,\N,Likely benign,\N,missense_variant,20.4,0.000307377,EXAC_AFR_AF,COL4A4
465864,2:227896709:G>A,NM_000092.4:c.3769C>T,NP_000083.3:p.Pro1257Ser,40/48,\N,Likely benign,\N,missense_variant,5.194,0.0000150466,EXAC_NFE_AF,COL4A4
465865,2:227896709:G>C,NM_000092.4:c.3769C>G,NP_000083.3:p.Pro1257Ala,40/48,\N,Likely benign,\N,missense_variant,9.302,0.000121183,EVS_EA_AF,COL4A4
465866,2:227896709:G>T,NM_000092.4:c.3769C>A,NP_000083.3:p.Pro1257Thr,40/48,\N,Unknown significance,\N,missense_variant,18.3,0.0000150466,EXAC_NFE_AF,COL4A4
465867,2:227896731:T>G,NM_000092.4:c.3747A>C,NP_000083.3:p.Arg1249Ser,40/48,\N,Unknown significance,\N,missense_variant,8.158,0.0000606502,EXAC_SAS_AF,COL4A4
465868,2:227896735:C>T,NM_000092.4:c.3743G>A,NP_000083.3:p.Gly1248Glu,40/48,\N,Unknown significance,\N,missense_variant,23.5,0.000120156,EXAC_NFE_AF,COL4A4
465869,2:227896737:T>G,NM_000092.4:c.3741A>C,NP_000083.3:p.Thr1247=,40/48,\N,Unknown significance,\N,synonymous_variant,3.913,\N,\N,COL4A4
465870,2:227896746:T>G,NM_000092.4:c.3732A>C,NP_000083.3:p.Ala1244=,40/48,\N,Unknown significance,\N,synonymous_variant,6.791,0.00052521,EVS_AA_AF,COL4A4
465871,2:227896756:G>A,NM_000092.4:c.3722C>T,NP_000083.3:p.Pro1241Leu,40/48,\N,Unknown significance,\N,missense_variant,23.7,0.0000865052,EXAC_AMR_AF,COL4A4
465872,2:227896757:G>A,NM_000092.4:c.3721C>T,NP_000083.3:p.Pro1241Ser,40/48,\N,Unknown significance,\N,missense_variant,19.16,0.0000150038,EXAC_NFE_AF,COL4A4
465873,2:227896765:G>T,NM_000092.4:c.3713C>A,NP_000083.3:p.Ser1238Ter,40/48,\N,Pathogenic,Alport syndrome,stop_gained,41,\N,\N,COL4A4
465874,2:227896773:T>A,NM_000092.4:c.3707-2A>T,\N,\N,39/47,Unknown significance,\N,splice_acceptor_variant,23.1,0.0000149939,EXAC_NFE_AF,COL4A4
465875,2:227896776:G>A,NM_000092.4:c.3707-5C>T,\N,\N,39/47,Unknown significance,\N,splice_region_variant&intron_variant,0.524,0.0008,1KG_AFR_AF,COL4A4
465876,2:227896785:T>A,NM_000092.4:c.3707-14A>T,\N,\N,39/47,Unknown significance,\N,intron_variant,2.269,0.002,1KG_SAS_AF,COL4A4
465877,2:227896791:CAT>C,NM_000092.4:c.3707-22_3707-21del,\N,\N,39/47,Unknown significance,\N,intron_variant,5.704,0.000115955,EXAC_EAS_AF,COL4A4
465878,2:227896800:C>T,NM_000092.4:c.3707-29G>A,\N,\N,39/47,Unknown significance,\N,intron_variant,7.627,0.000060562,EXAC_SAS_AF,COL4A4
465879,2:227896817:G>C,NM_000092.4:c.3707-46C>G,\N,\N,39/47,Unknown significance,\N,intron_variant,10.19,0.000102041,EXAC_AFR_AF,COL4A4
465880,2:227896821:T>A,NM_000092.4:c.3706+43A>T,\N,\N,39/47,Unknown significance,\N,intron_variant,14.06,0.0000299715,EXAC_NFE_AF,COL4A4
465881,2:227896821:T>G,NM_000092.4:c.3706+43A>C,\N,\N,39/47,Unknown significance,\N,intron_variant,13.52,0.000115955,EXAC_EAS_AF,COL4A4
465882,2:227896832:T>C,NM_000092.4:c.3706+32A>G,\N,\N,39/47,Unknown significance,\N,intron_variant,8.43,0.000102041,EXAC_AFR_AF,COL4A4
465883,2:227896835:A>C,NM_000092.4:c.3706+29T>G,\N,\N,39/47,Unknown significance,\N,intron_variant,2.807,0.000115955,EXAC_EAS_AF,COL4A4
465884,2:227896840:A>C,NM_000092.4:c.3706+24T>G,\N,\N,39/47,Unknown significance,\N,intron_variant,0.536,0.000239801,EXAC_NFE_AF,COL4A4
465885,2:227896844:C>A,NM_000092.4:c.3706+20G>T,\N,\N,39/47,Unknown significance,\N,intron_variant,4.037,0.000014988,EXAC_NFE_AF,COL4A4
465886,2:227896851:T>C,NM_000092.4:c.3706+13A>G,\N,\N,39/47,Unknown significance,\N,intron_variant,3.078,0.000811688,EXAC_EAS_AF,COL4A4
465887,2:227896854:T>C,NM_000092.4:c.3706+10A>G,\N,\N,39/47,Unknown significance,\N,intron_variant,1.364,0.000121862,EVS_EA_AF,COL4A4
465888,2:227896865:T>C,NM_000092.4:c.3705A>G,NP_000083.3:p.Pro1235=,39/48,\N,Benign,\N,splice_region_variant&synonymous_variant,1.306,0.00672542,EXAC_EAS_AF,COL4A4
465889,2:227896865:T>TG,NM_000092.4:c.3704dup,NP_000083.3:p.Gly1236ArgfsTer17,39/48,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,0.0000149925,EXAC_NFE_AF,COL4A4
465890,2:227896870:G>A,NM_000092.4:c.3700C>T,NP_000083.3:p.Pro1234Ser,39/48,\N,Likely benign,\N,missense_variant,8.478,0.0000864006,EXAC_AMR_AF,COL4A4
465891,2:227896882:C>T,NM_000092.4:c.3688G>A,NP_000083.3:p.Gly1230Ser,39/48,\N,Unknown significance,\N,missense_variant,23.7,0.0000149907,EXAC_NFE_AF,COL4A4
465892,2:227896882:C>CT,NM_000092.4:c.3687dup,NP_000083.3:p.Gly1230ArgfsTer23,39/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
465893,2:227896883:T>C,NM_000092.4:c.3687A>G,NP_000083.3:p.Lys1229=,39/48,\N,Unknown significance,\N,synonymous_variant,0.011,0.000121153,EXAC_SAS_AF,COL4A4
465894,2:227896884:T>C,NM_000092.4:c.3686A>G,NP_000083.3:p.Lys1229Arg,39/48,\N,Likely benign,\N,missense_variant,0.044,0.000102082,EXAC_AFR_AF,COL4A4
465895,2:227896885:TC>T,NM_000092.4:c.3684del,NP_000083.3:p.Gly1230ValfsTer58,39/48,\N,Pathogenic,Alport syndrome,frameshift_variant,24.6,\N,\N,COL4A4
465896,2:227896886:C>T,NM_000092.4:c.3684G>A,NP_000083.3:p.Lys1228=,39/48,\N,Benign,\N,synonymous_variant,7.12,0.5746,1KG_SAS_AF,COL4A4
465897,2:227896893:C>T,NM_000092.4:c.3677G>A,NP_000083.3:p.Arg1226His,39/48,\N,Likely benign,\N,missense_variant,0.736,0.0000749625,EXAC_NFE_AF,COL4A4
465898,2:227896894:G>A,NM_000092.4:c.3676C>T,NP_000083.3:p.Arg1226Cys,39/48,\N,Likely benign,\N,missense_variant,12.54,0.00046436,EXAC_EAS_AF,COL4A4
465899,2:227896894:G>C,NM_000092.4:c.3676C>G,NP_000083.3:p.Arg1226Gly,39/48,\N,Likely benign,\N,missense_variant,2.291,0.0000149943,EXAC_NFE_AF,COL4A4
465900,2:227896902:G>A,NM_000092.4:c.3668C>T,NP_000083.3:p.Pro1223Leu,39/48,\N,Unknown significance,\N,missense_variant,18.05,0.000172951,EXAC_AMR_AF,COL4A4
465901,2:227896903:G>A,NM_000092.4:c.3667C>T,NP_000083.3:p.Pro1223Ser,39/48,\N,Unknown significance,\N,missense_variant,20.5,0.0000149948,EXAC_NFE_AF,COL4A4
465902,2:227896904:A>G,NM_000092.4:c.3666T>C,NP_000083.3:p.Pro1222=,39/48,\N,Unknown significance,\N,synonymous_variant,7.937,0.0015,1KG_AFR_AF,COL4A4
465903,2:227896905:G>A,NM_000092.4:c.3665C>T,NP_000083.3:p.Pro1222Leu,39/48,\N,Unknown significance,\N,missense_variant,14,0.000244978,EVS_EA_AF,COL4A4
465904,2:227896912:T>C,NM_000092.4:c.3658A>G,NP_000083.3:p.Ile1220Val,39/48,\N,Likely benign,\N,missense_variant,11.2,0.000151286,EXAC_FIN_AF,COL4A4
465905,2:227896916:T>C,NM_000092.4:c.3654A>G,NP_000083.3:p.Pro1218=,39/48,\N,Unknown significance,\N,synonymous_variant,2.4,0.00190528,EVS_AA_AF,COL4A4
465906,2:227896921:TC>T,NM_000092.4:c.3648del,NP_000083.3:p.Ser1217AlafsTer71,39/48,\N,Pathogenic,Alport syndrome,frameshift_variant,28.7,\N,\N,COL4A4
465907,2:227896926:G>A,NM_000092.4:c.3644C>T,NP_000083.3:p.Pro1215Leu,39/48,\N,Unknown significance,\N,missense_variant,22.8,0.0029,1KG_AMR_AF,COL4A4
465908,2:227896927:G>A,NM_000092.4:c.3643C>T,NP_000083.3:p.Pro1215Ser,39/48,\N,Unknown significance,\N,missense_variant,22.7,0.00036368,EXAC_SAS_AF,COL4A4
465909,2:227896931:T>G,NM_000092.4:c.3639A>C,NP_000083.3:p.Gly1213=,39/48,\N,Unknown significance,\N,synonymous_variant,7.167,0.000117041,EXAC_EAS_AF,COL4A4
465910,2:227896936:T>C,NM_000092.4:c.3634A>G,NP_000083.3:p.Arg1212Gly,39/48,\N,Likely benign,\N,missense_variant,9.981,0.0008,1KG_AFR_AF,COL4A4
465911,2:227896937:C>A,NM_000092.4:c.3633G>T,NP_000083.3:p.Glu1211Asp,39/48,\N,Likely benign,\N,missense_variant,19.04,0.0000150462,EXAC_NFE_AF,COL4A4
465912,2:227896939:C>T,NM_000092.4:c.3631G>A,NP_000083.3:p.Glu1211Lys,39/48,\N,Unknown significance,\N,missense_variant,23.3,0.0000150548,EXAC_NFE_AF,COL4A4
465913,2:227896940:C>A,NM_000092.4:c.3630G>T,NP_000083.3:p.Gly1210=,39/48,\N,Unknown significance,\N,synonymous_variant,15.35,0.0000301123,EXAC_NFE_AF,COL4A4
465914,2:227896940:C>T,NM_000092.4:c.3630G>A,NP_000083.3:p.Gly1210=,39/48,\N,Unknown significance,\N,synonymous_variant,13.94,\N,\N,COL4A4
465915,2:227896941:C>T,NM_000092.4:c.3629G>A,NP_000083.3:p.Gly1210Glu,39/48,\N,Unknown significance,\N,missense_variant,25.5,\N,\N,COL4A4
465916,2:227896948:G>C,NM_000092.4:c.3622C>G,NP_000083.3:p.Leu1208Val,39/48,\N,Likely benign,\N,missense_variant,12.97,0.000195954,EXAC_NFE_AF,COL4A4
465917,2:227896948:GCCCAGGTATT>G,NM_000092.4:c.3612_3621del,NP_000083.3:p.Ile1205Ter,39/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
465918,2:227896952:A>C,NM_000092.4:c.3618T>G,NP_000083.3:p.Pro1206=,39/48,\N,Unknown significance,\N,synonymous_variant,1.792,0.0000606722,EXAC_SAS_AF,COL4A4
465919,2:227896962:A>G,NM_000092.4:c.3608T>C,NP_000083.3:p.Val1203Ala,39/48,\N,Likely benign,\N,missense_variant,10.78,0.000122011,EVS_EA_AF,COL4A4
465920,2:227896965:G>A,NM_000092.4:c.3605C>T,NP_000083.3:p.Pro1202Leu,39/48,\N,Unknown significance,\N,missense_variant,14.35,\N,\N,COL4A4
465921,2:227896968:C>T,NM_000092.4:c.3602G>A,NP_000083.3:p.Gly1201Asp,39/48,\N,Pathogenic,Alport syndrome,missense_variant,24.5,\N,\N,COL4A4
465922,2:227896969:C>T,NM_000092.4:c.3601G>A,NP_000083.3:p.Gly1201Ser,39/48,\N,Pathogenic,Alport syndrome,missense_variant,24.9,\N,\N,COL4A4
465923,2:227896970:A>T,NM_000092.4:c.3600T>A,NP_000083.3:p.Pro1200=,39/48,\N,Unknown significance,\N,synonymous_variant,1.084,0.000087581,EXAC_AMR_AF,COL4A4
465924,2:227896976:C>T,NM_000092.4:c.3594G>A,NP_000083.3:p.Gly1198=,39/48,\N,Benign,\N,synonymous_variant,10.9,0.574259,EXAC_SAS_AF,COL4A4
465925,2:227896979:C>T,NM_000092.4:c.3591G>A,NP_000083.3:p.Val1197=,39/48,\N,Unknown significance,\N,synonymous_variant,10.02,0.001,1KG_EAS_AF,COL4A4
465926,2:227896980:ACAT>A,NM_000092.4:c.3587_3589del,NP_000083.3:p.Asp1196del,39/48,\N,Unknown significance,\N,inframe_deletion,18.2,\N,\N,COL4A4
465927,2:227896987:G>A,NM_000092.4:c.3583C>T,NP_000083.3:p.His1195Tyr,39/48,\N,Likely benign,\N,missense_variant,17.72,0.0000166667,EXAC_NFE_AF,COL4A4
465928,2:227896989:A>G,NM_000092.4:c.3581T>C,NP_000083.3:p.Leu1194Ser,39/48,\N,Benign,\N,missense_variant,14.64,0.0051,1KG_SAS_AF,COL4A4
465929,2:227896992:C>A,NM_000092.4:c.3578G>T,NP_000083.3:p.Gly1193Val,39/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.4,0.000138083,EXAC_EAS_AF,COL4A4
465930,2:227897002:G>A,NM_000092.4:c.3578-10C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,15.45,0.000192086,EXAC_FIN_AF,COL4A4
465931,2:227897019:T>C,NM_000092.4:c.3578-27A>G,\N,\N,38/47,Unknown significance,\N,intron_variant,5.882,0.0000243143,EXAC_NFE_AF,COL4A4
465932,2:227897027:C>T,NM_000092.4:c.3578-35G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,6.773,0.000265534,EVS_AA_AF,COL4A4
465933,2:227897063:A>T,NM_000092.4:c.3578-71T>A,\N,\N,38/47,Unknown significance,\N,intron_variant,2.659,0.001,1KG_SAS_AF,COL4A4
465934,2:227897076:A>G,NM_000092.4:c.3578-84T>C,\N,\N,38/47,Benign,\N,intron_variant,3.123,0.5736,1KG_SAS_AF,COL4A4
465935,2:227897078:C>T,NM_000092.4:c.3578-86G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,1.538,\N,\N,COL4A4
465936,2:227897079:G>A,NM_000092.4:c.3578-87C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,1.171,0.002,1KG_SAS_AF,COL4A4
465937,2:227897090:G>A,NM_000092.4:c.3578-98C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,3.704,0.001,1KG_EUR_AF,COL4A4
465938,2:227897134:A>C,NM_000092.4:c.3578-142T>G,\N,\N,38/47,Unknown significance,\N,intron_variant,0.68,0.001,1KG_SAS_AF,COL4A4
465939,2:227897144:C>A,NM_000092.4:c.3578-152G>T,\N,\N,38/47,Unknown significance,\N,intron_variant,2.481,0.001,1KG_EUR_AF,COL4A4
465940,2:227897170:C>G,NM_000092.4:c.3578-178G>C,\N,\N,38/47,Unknown significance,\N,intron_variant,3.781,\N,\N,COL4A4
465941,2:227897180:A>G,NM_000092.4:c.3578-188T>C,\N,\N,38/47,Unknown significance,\N,intron_variant,1.972,0.0008,1KG_AFR_AF,COL4A4
465942,2:227897199:T>C,NM_000092.4:c.3578-207A>G,\N,\N,38/47,Unknown significance,\N,intron_variant,6.34,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
465943,2:227897244:C>T,NM_000092.4:c.3578-252G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,2.213,0.0008,1KG_AFR_AF,COL4A4
465944,2:227897287:T>A,NM_000092.4:c.3578-295A>T,\N,\N,38/47,Benign,\N,intron_variant,7.748,0.0188,1KG_EAS_AF,COL4A4
465945,2:227897291:A>G,NM_000092.4:c.3578-299T>C,\N,\N,38/47,Unknown significance,\N,intron_variant,6.886,0.001,1KG_EAS_AF,COL4A4
465946,2:227897299:T>C,NM_000092.4:c.3578-307A>G,\N,\N,38/47,Unknown significance,\N,intron_variant,4.678,\N,\N,COL4A4
465947,2:227897305:A>G,NM_000092.4:c.3578-313T>C,\N,\N,38/47,Benign,\N,intron_variant,4.168,0.0144,1KG_AFR_AF,COL4A4
465948,2:227897329:G>A,NM_000092.4:c.3578-337C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,2.731,\N,\N,COL4A4
465949,2:227897337:G>A,NM_000092.4:c.3578-345C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,4.492,\N,\N,COL4A4
465950,2:227897352:T>C,NM_000092.4:c.3578-360A>G,\N,\N,38/47,Benign,\N,intron_variant,2.3,0.028,1KG_AFR_AF,COL4A4
465951,2:227897374:G>A,NM_000092.4:c.3578-382C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,3.448,0.002,1KG_EUR_AF|1KG_SAS_AF,COL4A4
465952,2:227897422:G>A,NM_000092.4:c.3578-430C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,4.803,\N,\N,COL4A4
465953,2:227897453:A>G,NM_000092.4:c.3578-461T>C,\N,\N,38/47,Unknown significance,\N,intron_variant,1.676,0.001,1KG_EAS_AF,COL4A4
465954,2:227897462:G>T,NM_000092.4:c.3578-470C>A,\N,\N,38/47,Unknown significance,\N,intron_variant,0.196,0.002,1KG_EUR_AF,COL4A4
465955,2:227897492:C>T,NM_000092.4:c.3578-500G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,1.372,\N,\N,COL4A4
465956,2:227897534:C>T,NM_000092.4:c.3578-542G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,3.256,\N,\N,COL4A4
465957,2:227897535:C>G,NM_000092.4:c.3578-543G>C,\N,\N,38/47,Unknown significance,\N,intron_variant,1.893,0.0008,1KG_AFR_AF,COL4A4
465958,2:227897589:G>A,NM_000092.4:c.3577+537C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,0.859,\N,\N,COL4A4
465959,2:227897589:G>T,NM_000092.4:c.3577+537C>A,\N,\N,38/47,Benign,\N,intron_variant,0.242,0.0159,1KG_AFR_AF,COL4A4
465960,2:227897596:C>T,NM_000092.4:c.3577+530G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,7.192,\N,\N,COL4A4
465961,2:227897608:C>T,NM_000092.4:c.3577+518G>A,\N,\N,38/47,Benign,\N,intron_variant,7.689,0.0076,1KG_AFR_AF,COL4A4
465962,2:227897613:C>T,NM_000092.4:c.3577+513G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,3.906,0.001,1KG_SAS_AF,COL4A4
465963,2:227897622:A>G,NM_000092.4:c.3577+504T>C,\N,\N,38/47,Unknown significance,\N,intron_variant,4.465,\N,\N,COL4A4
465964,2:227897669:C>A,NM_000092.4:c.3577+457G>T,\N,\N,38/47,Unknown significance,\N,intron_variant,2.368,\N,\N,COL4A4
465965,2:227897669:C>T,NM_000092.4:c.3577+457G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,2.64,\N,\N,COL4A4
465966,2:227897670:G>A,NM_000092.4:c.3577+456C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,2.059,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
465967,2:227897734:T>C,NM_000092.4:c.3577+392A>G,\N,\N,38/47,Unknown significance,\N,intron_variant,1.391,0.0014,1KG_AMR_AF,COL4A4
465968,2:227897784:A>C,NM_000092.4:c.3577+342T>G,\N,\N,38/47,Benign,\N,intron_variant,2.229,0.0333,1KG_AFR_AF,COL4A4
465969,2:227897851:C>T,NM_000092.4:c.3577+275G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,3.36,0.001,1KG_EAS_AF,COL4A4
465970,2:227897905:TAACC>T,NM_000092.4:c.3577+217_3577+220del,\N,\N,38/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
465971,2:227897911:A>C,NM_000092.4:c.3577+215T>G,\N,\N,38/47,Unknown significance,\N,intron_variant,8.327,0.0008,1KG_AFR_AF,COL4A4
465972,2:227897926:A>C,NM_000092.4:c.3577+200T>G,\N,\N,38/47,Unknown significance,\N,intron_variant,6.393,\N,\N,COL4A4
465973,2:227897987:G>C,NM_000092.4:c.3577+139C>G,\N,\N,38/47,Unknown significance,\N,intron_variant,0.523,\N,\N,COL4A4
465974,2:227898000:C>T,NM_000092.4:c.3577+126G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,8.662,\N,\N,COL4A4
465975,2:227898077:T>C,NM_000092.4:c.3577+49A>G,\N,\N,38/47,Unknown significance,\N,intron_variant,1.492,0.000130736,EXAC_SAS_AF,COL4A4
465976,2:227898078:G>C,NM_000092.4:c.3577+48C>G,\N,\N,38/47,Benign,\N,intron_variant,0.489,0.00620018,EXAC_AFR_AF,COL4A4
465977,2:227898084:T>G,NM_000092.4:c.3577+42A>C,\N,\N,38/47,Unknown significance,\N,intron_variant,1.804,0.0000160308,EXAC_NFE_AF,COL4A4
465978,2:227898094:C>T,NM_000092.4:c.3577+32G>A,\N,\N,38/47,Unknown significance,\N,intron_variant,6.186,0.0000159241,EXAC_NFE_AF,COL4A4
465979,2:227898102:G>A,NM_000092.4:c.3577+24C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,3.831,0.00012475,EXAC_EAS_AF,COL4A4
465980,2:227898112:G>A,NM_000092.4:c.3577+14C>T,\N,\N,38/47,Unknown significance,\N,intron_variant,5.463,0.0000153417,EXAC_NFE_AF,COL4A4
465981,2:227898112:G>C,NM_000092.4:c.3577+14C>G,\N,\N,38/47,Unknown significance,\N,intron_variant,2.168,0.000120424,EVS_EA_AF,COL4A4
465982,2:227898115:T>A,NM_000092.4:c.3577+11A>T,\N,\N,38/47,Unknown significance,\N,intron_variant,9.223,\N,\N,COL4A4
465983,2:227898123:T>A,NM_000092.4:c.3577+3A>T,\N,\N,38/47,Likely pathogenic,\N,splice_region_variant&intron_variant,18.01,\N,\N,COL4A4
465984,2:227898130:A>G,NM_000092.4:c.3573T>C,NP_000083.3:p.Ala1191=,38/48,\N,Unknown significance,\N,synonymous_variant,13.91,0.0000614326,EXAC_SAS_AF,COL4A4
465985,2:227898135:C>A,NM_000092.4:c.3568G>T,NP_000083.3:p.Gly1190Cys,38/48,\N,Unknown significance,\N,missense_variant,28.8,0.0000611845,EXAC_SAS_AF,COL4A4
465986,2:227898145:T>C,NM_000092.4:c.3558A>G,NP_000083.3:p.Lys1186=,38/48,\N,Unknown significance,\N,synonymous_variant,8.905,0.000308452,EXAC_AFR_AF,COL4A4
465987,2:227898155:T>C,NM_000092.4:c.3548A>G,NP_000083.3:p.Lys1183Arg,38/48,\N,Unknown significance,\N,missense_variant,20.8,0.000259067,EVS_AA_AF,COL4A4
465988,2:227898158:A>T,NM_000092.4:c.3545T>A,NP_000083.3:p.Leu1182Ter,38/48,\N,Unknown significance,\N,stop_gained,46,0.0008,1KG_AFR_AF,COL4A4
465989,2:227898171:C>T,NM_000092.4:c.3532G>A,NP_000083.3:p.Gly1178Ser,38/48,\N,Unknown significance,\N,missense_variant,25,0.000165558,EXAC_NFE_AF,COL4A4
465990,2:227898172:G>A,NM_000092.4:c.3531C>T,NP_000083.3:p.Asn1177=,38/48,\N,Unknown significance,\N,synonymous_variant,6.245,0.000582208,EXAC_EAS_AF,COL4A4
465991,2:227898180:C>T,NM_000092.4:c.3523G>A,NP_000083.3:p.Gly1175Ser,38/48,\N,Unknown significance,\N,missense_variant,24.1,0.0000150716,EXAC_NFE_AF,COL4A4
465992,2:227898181:A>C,NM_000092.4:c.3522T>G,NP_000083.3:p.Pro1174=,38/48,\N,Unknown significance,\N,synonymous_variant,0.024,0.0000609385,EXAC_SAS_AF,COL4A4
465993,2:227898190:G>A,NM_000092.4:c.3513C>T,NP_000083.3:p.Ser1171=,38/48,\N,Unknown significance,\N,synonymous_variant,10.11,0.000183374,EXAC_SAS_AF,COL4A4
465994,2:227898191:G>C,NM_000092.4:c.3512C>G,NP_000083.3:p.Ser1171Cys,38/48,\N,Unknown significance,\N,missense_variant,15.04,0.000120308,EVS_EA_AF,COL4A4
465995,2:227898194:G>C,NM_000092.4:c.3509C>G,NP_000083.3:p.Pro1170Arg,38/48,\N,Unknown significance,\N,missense_variant,14.23,0.000352195,EXAC_EAS_AF,COL4A4
465996,2:227898205:A>C,NM_000092.4:c.3506-8T>G,\N,\N,37/47,Unknown significance,\N,splice_region_variant&intron_variant,2.154,0.0000880437,EXAC_AMR_AF,COL4A4
465997,2:227898209:C>T,NM_000092.4:c.3506-12G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,8.331,0.0000305857,EXAC_NFE_AF,COL4A4
465998,2:227898210:A>G,NM_000092.4:c.3506-13T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,7.551,0.000105263,EXAC_AFR_AF,COL4A4
465999,2:227898211:C>T,NM_000092.4:c.3506-14G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,7.823,\N,\N,COL4A4
466000,2:227898216:C>G,NM_000092.4:c.3506-19G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,6.88,\N,\N,COL4A4
466001,2:227898227:AG>A,NM_000092.4:c.3506-31del,\N,\N,37/47,Unknown significance,\N,intron_variant,1.768,0.00006222,EXAC_SAS_AF,COL4A4
466002,2:227898235:C>A,NM_000092.4:c.3506-38G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.597,0.0000626959,EXAC_SAS_AF,COL4A4
466003,2:227898242:C>T,NM_000092.4:c.3506-45G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,6.195,0.0000338926,EXAC_NFE_AF,COL4A4
466004,2:227898243:G>A,NM_000092.4:c.3506-46C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.242,0.0000170905,EXAC_NFE_AF,COL4A4
466005,2:227898259:A>G,NM_000092.4:c.3506-62T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.985,\N,\N,COL4A4
466006,2:227898260:CA>C,NM_000092.4:c.3506-64del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466007,2:227898264:C>T,NM_000092.4:c.3506-67G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,7.165,0.0015,1KG_AFR_AF,COL4A4
466008,2:227898265:G>A,NM_000092.4:c.3506-68C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.221,0.0014,1KG_AMR_AF,COL4A4
466009,2:227898266:C>G,NM_000092.4:c.3506-69G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.161,0.003,1KG_EUR_AF,COL4A4
466010,2:227898281:A>AT,NM_000092.4:c.3506-85_3506-84insA,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466011,2:227898298:G>A,NM_000092.4:c.3506-101C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.272,0.0008,1KG_AFR_AF,COL4A4
466012,2:227898318:C>T,NM_000092.4:c.3506-121G>A,\N,\N,37/47,Benign,\N,intron_variant,4.26,0.1014,1KG_AFR_AF,COL4A4
466013,2:227898319:G>A,NM_000092.4:c.3506-122C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.957,0.0029,1KG_AMR_AF,COL4A4
466014,2:227898374:A>T,NM_000092.4:c.3506-177T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.131,\N,\N,COL4A4
466015,2:227898378:G>A,NM_000092.4:c.3506-181C>T,\N,\N,37/47,Benign,\N,intron_variant,6.196,0.0068,1KG_AFR_AF,COL4A4
466016,2:227898433:A>T,NM_000092.4:c.3506-236T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,6.262,0.002,1KG_EAS_AF,COL4A4
466017,2:227898434:C>T,NM_000092.4:c.3506-237G>A,\N,\N,37/47,Benign,\N,intron_variant,8.208,0.5746,1KG_SAS_AF,COL4A4
466018,2:227898464:A>G,NM_000092.4:c.3506-267T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.429,0.001,1KG_EAS_AF,COL4A4
466019,2:227898474:T>C,NM_000092.4:c.3506-277A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.461,0.001,1KG_SAS_AF,COL4A4
466020,2:227898533:C>G,NM_000092.4:c.3506-336G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.985,0.001,1KG_EAS_AF,COL4A4
466021,2:227898536:C>A,NM_000092.4:c.3506-339G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,5.355,\N,\N,COL4A4
466022,2:227898552:G>A,NM_000092.4:c.3506-355C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.074,0.0008,1KG_AFR_AF,COL4A4
466023,2:227898561:C>G,NM_000092.4:c.3506-364G>C,\N,\N,37/47,Benign,\N,intron_variant,1.809,0.0069,1KG_EAS_AF,COL4A4
466024,2:227898622:TC>T,NM_000092.4:c.3506-426del,\N,\N,37/47,Benign,\N,intron_variant,0.826,0.8964,1KG_AFR_AF,COL4A4
466025,2:227898641:T>C,NM_000092.4:c.3506-444A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.385,\N,\N,COL4A4
466026,2:227898658:T>C,NM_000092.4:c.3506-461A>G,\N,\N,37/47,Benign,\N,intron_variant,2.855,0.0227,1KG_AFR_AF,COL4A4
466027,2:227898663:C>T,NM_000092.4:c.3506-466G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,3.057,\N,\N,COL4A4
466028,2:227898664:G>A,NM_000092.4:c.3506-467C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.013,\N,\N,COL4A4
466029,2:227898671:C>T,NM_000092.4:c.3506-474G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.275,\N,\N,COL4A4
466030,2:227898679:G>A,NM_000092.4:c.3506-482C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.345,0.0008,1KG_AFR_AF,COL4A4
466031,2:227898696:A>C,NM_000092.4:c.3506-499T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.904,0.002,1KG_EUR_AF,COL4A4
466032,2:227898711:G>A,NM_000092.4:c.3506-514C>T,\N,\N,37/47,Benign,\N,intron_variant,3.348,0.0454,1KG_AFR_AF,COL4A4
466033,2:227898726:A>G,NM_000092.4:c.3506-529T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.095,0.001,1KG_SAS_AF,COL4A4
466034,2:227898738:G>A,NM_000092.4:c.3506-541C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,7.073,0.001,1KG_SAS_AF,COL4A4
466035,2:227898775:C>A,NM_000092.4:c.3506-578G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.589,0.001,1KG_EUR_AF,COL4A4
466036,2:227898797:A>T,NM_000092.4:c.3506-600T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.959,\N,\N,COL4A4
466037,2:227898834:G>A,NM_000092.4:c.3506-637C>T,\N,\N,37/47,Benign,\N,intron_variant,0.724,0.0272,1KG_AFR_AF,COL4A4
466038,2:227898860:T>C,NM_000092.4:c.3506-663A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,5.006,\N,\N,COL4A4
466039,2:227898886:TTC>T,NM_000092.4:c.3506-691_3506-690del,\N,\N,37/47,Benign,\N,intron_variant,1.746,0.0318,1KG_AFR_AF,COL4A4
466040,2:227898889:T>C,NM_000092.4:c.3506-692A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.582,\N,\N,COL4A4
466041,2:227898892:T>G,NM_000092.4:c.3506-695A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,6.524,\N,\N,COL4A4
466042,2:227898950:T>G,NM_000092.4:c.3506-753A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.11,\N,\N,COL4A4
466043,2:227898961:AT>A,NM_000092.4:c.3506-765del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466044,2:227898962:T>A,NM_000092.4:c.3506-765A>T,\N,\N,37/47,Benign,\N,intron_variant,7.467,0.5746,1KG_SAS_AF,COL4A4
466045,2:227898985:C>T,NM_000092.4:c.3506-788G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.105,0.001,1KG_EAS_AF,COL4A4
466046,2:227898988:A>C,NM_000092.4:c.3506-791T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.107,0.0008,1KG_AFR_AF,COL4A4
466047,2:227898998:G>A,NM_000092.4:c.3506-801C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.041,0.0014,1KG_AMR_AF,COL4A4
466048,2:227899068:G>A,NM_000092.4:c.3506-871C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.887,\N,\N,COL4A4
466049,2:227899119:G>A,NM_000092.4:c.3506-922C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.838,\N,\N,COL4A4
466050,2:227899173:C>T,NM_000092.4:c.3506-976G>A,\N,\N,37/47,Benign,\N,intron_variant,2.369,0.0575,1KG_AFR_AF,COL4A4
466051,2:227899199:C>G,NM_000092.4:c.3506-1002G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.192,0.001,1KG_SAS_AF,COL4A4
466052,2:227899257:C>CT,NM_000092.4:c.3506-1061dup,\N,\N,37/47,Unknown significance,\N,intron_variant,2.201,\N,\N,COL4A4
466053,2:227899257:CT>C,NM_000092.4:c.3506-1061del,\N,\N,37/47,Unknown significance,\N,intron_variant,4.009,\N,\N,COL4A4
466054,2:227899264:T>C,NM_000092.4:c.3506-1067A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.264,0.001,1KG_EUR_AF,COL4A4
466055,2:227899281:TAA>T,NM_000092.4:c.3506-1086_3506-1085del,\N,\N,37/47,Unknown significance,\N,intron_variant,1.888,\N,\N,COL4A4
466056,2:227899282:A>T,NM_000092.4:c.3506-1085T>A,\N,\N,37/47,Benign,\N,intron_variant,0.019,0.0862,1KG_AFR_AF,COL4A4
466057,2:227899283:ATTAAT>A,NM_000092.4:c.3506-1091_3506-1087del,\N,\N,37/47,Unknown significance,\N,intron_variant,3.575,\N,\N,COL4A4
466058,2:227899284:TTA>T,NM_000092.4:c.3506-1089_3506-1088del,\N,\N,37/47,Unknown significance,\N,intron_variant,3.313,\N,\N,COL4A4
466059,2:227899286:A>T,NM_000092.4:c.3506-1089T>A,\N,\N,37/47,Benign,\N,intron_variant,0.391,0.6293,1KG_AFR_AF,COL4A4
466060,2:227899290:T>A,NM_000092.4:c.3506-1093A>T,\N,\N,37/47,Benign,\N,intron_variant,3.53,0.005,1KG_EAS_AF,COL4A4
466061,2:227899305:A>G,NM_000092.4:c.3506-1108T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.606,\N,\N,COL4A4
466062,2:227899439:C>G,NM_000092.4:c.3506-1242G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.026,\N,\N,COL4A4
466063,2:227899503:A>G,NM_000092.4:c.3506-1306T>C,\N,\N,37/47,Benign,\N,intron_variant,3.523,0.0068,1KG_AFR_AF,COL4A4
466064,2:227899551:C>T,NM_000092.4:c.3506-1354G>A,\N,\N,37/47,Benign,\N,intron_variant,0.073,0.0356,1KG_AFR_AF,COL4A4
466065,2:227899611:CTCA>C,NM_000092.4:c.3506-1417_3506-1415del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466066,2:227899640:C>T,NM_000092.4:c.3506-1443G>A,\N,\N,37/47,Benign,\N,intron_variant,7.582,0.0083,1KG_AFR_AF,COL4A4
466067,2:227899658:C>T,NM_000092.4:c.3506-1461G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,5.387,0.001,1KG_EUR_AF,COL4A4
466068,2:227899670:C>T,NM_000092.4:c.3506-1473G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,4.684,0.002,1KG_EUR_AF,COL4A4
466069,2:227899700:C>G,NM_000092.4:c.3506-1503G>C,\N,\N,37/47,Benign,\N,intron_variant,0.793,0.0129,1KG_EUR_AF,COL4A4
466070,2:227899752:G>A,NM_000092.4:c.3506-1555C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.357,\N,\N,COL4A4
466071,2:227899821:A>G,NM_000092.4:c.3506-1624T>C,\N,\N,37/47,Benign,\N,intron_variant,3.28,0.0174,1KG_AFR_AF,COL4A4
466072,2:227899833:G>A,NM_000092.4:c.3506-1636C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.739,0.001,1KG_EUR_AF,COL4A4
466073,2:227899840:G>A,NM_000092.4:c.3506-1643C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.482,0.0014,1KG_AMR_AF,COL4A4
466074,2:227899862:T>C,NM_000092.4:c.3506-1665A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,4.135,0.001,1KG_SAS_AF,COL4A4
466075,2:227899994:C>T,NM_000092.4:c.3506-1797G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,4.201,\N,\N,COL4A4
466076,2:227900000:C>A,NM_000092.4:c.3506-1803G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.627,0.001,1KG_SAS_AF,COL4A4
466077,2:227900065:A>G,NM_000092.4:c.3506-1868T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.623,0.0008,1KG_AFR_AF,COL4A4
466078,2:227900113:G>A,NM_000092.4:c.3506-1916C>T,\N,\N,37/47,Benign,\N,intron_variant,0.878,0.5716,1KG_SAS_AF,COL4A4
466079,2:227900147:C>A,NM_000092.4:c.3506-1950G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.791,0.001,1KG_SAS_AF,COL4A4
466080,2:227900190:ATTCTT>A,NM_000092.4:c.3506-1998_3506-1994del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466081,2:227900211:T>C,NM_000092.4:c.3506-2014A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.957,0.002,1KG_SAS_AF,COL4A4
466082,2:227900235:T>A,NM_000092.4:c.3506-2038A>T,\N,\N,37/47,Unknown significance,\N,intron_variant,7.44,0.0041,1KG_SAS_AF,COL4A4
466083,2:227900239:G>A,NM_000092.4:c.3506-2042C>T,\N,\N,37/47,Benign,\N,intron_variant,0.936,0.0068,1KG_AFR_AF,COL4A4
466084,2:227900245:CA>C,NM_000092.4:c.3506-2049del,\N,\N,37/47,Unknown significance,\N,intron_variant,1.009,\N,\N,COL4A4
466085,2:227900245:CAA>C,NM_000092.4:c.3506-2050_3506-2049del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.84,\N,\N,COL4A4
466086,2:227900268:T>C,NM_000092.4:c.3506-2071A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.407,0.001,1KG_EAS_AF,COL4A4
466087,2:227900270:C>T,NM_000092.4:c.3506-2073G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,3.669,\N,\N,COL4A4
466088,2:227900271:A>G,NM_000092.4:c.3506-2074T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.343,0.001,1KG_SAS_AF,COL4A4
466089,2:227900313:C>T,NM_000092.4:c.3506-2116G>A,\N,\N,37/47,Benign,\N,intron_variant,0.136,0.0072,1KG_AMR_AF,COL4A4
466090,2:227900364:C>T,NM_000092.4:c.3506-2167G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.066,0.0014,1KG_AMR_AF,COL4A4
466091,2:227900365:G>A,NM_000092.4:c.3506-2168C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.119,0.0008,1KG_AFR_AF,COL4A4
466092,2:227900408:G>A,NM_000092.4:c.3506-2211C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,19.05,\N,\N,COL4A4
466093,2:227900419:G>A,NM_000092.4:c.3506-2222C>T,\N,\N,37/47,Benign,\N,intron_variant,15.91,0.5706,1KG_SAS_AF,COL4A4
466094,2:227900439:G>A,NM_000092.4:c.3506-2242C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.808,\N,\N,COL4A4
466095,2:227900455:G>A,NM_000092.4:c.3506-2258C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.004,\N,\N,COL4A4
466096,2:227900529:G>A,NM_000092.4:c.3506-2332C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,17.86,\N,\N,COL4A4
466097,2:227900564:C>T,NM_000092.4:c.3506-2367G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,10.46,\N,\N,COL4A4
466098,2:227900603:G>C,NM_000092.4:c.3506-2406C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.006,0.0008,1KG_AFR_AF,COL4A4
466099,2:227900616:C>T,NM_000092.4:c.3506-2419G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.505,\N,\N,COL4A4
466100,2:227900617:G>A,NM_000092.4:c.3506-2420C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.564,0.002,1KG_EAS_AF,COL4A4
466101,2:227900621:T>C,NM_000092.4:c.3506-2424A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,12.2,0.001,1KG_EUR_AF,COL4A4
466102,2:227900634:C>T,NM_000092.4:c.3506-2437G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,15.43,\N,\N,COL4A4
466103,2:227900635:G>A,NM_000092.4:c.3506-2438C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,15.54,0.003,1KG_AFR_AF,COL4A4
466104,2:227900654:G>C,NM_000092.4:c.3506-2457C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,14.23,\N,\N,COL4A4
466105,2:227900657:A>T,NM_000092.4:c.3506-2460T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,15.4,0.001,1KG_SAS_AF,COL4A4
466106,2:227900664:TA>T,NM_000092.4:c.3506-2468del,\N,\N,37/47,Benign,\N,intron_variant,17.82,0.0099,1KG_EAS_AF,COL4A4
466107,2:227900703:T>C,NM_000092.4:c.3506-2506A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,14.02,\N,\N,COL4A4
466108,2:227900729:T>C,NM_000092.4:c.3506-2532A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,15.45,\N,\N,COL4A4
466109,2:227900732:A>G,NM_000092.4:c.3506-2535T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,17.61,\N,\N,COL4A4
466110,2:227900736:A>G,NM_000092.4:c.3506-2539T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,14.7,\N,\N,COL4A4
466111,2:227900745:C>CT,NM_000092.4:c.3506-2549dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466112,2:227900779:A>G,NM_000092.4:c.3506-2582T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,15.88,0.0023,1KG_AFR_AF,COL4A4
466113,2:227900798:A>G,NM_000092.4:c.3506-2601T>C,\N,\N,37/47,Benign,\N,intron_variant,17.17,0.0079,1KG_EAS_AF,COL4A4
466114,2:227900877:C>T,NM_000092.4:c.3506-2680G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,16.95,0.001,1KG_SAS_AF,COL4A4
466115,2:227900912:G>A,NM_000092.4:c.3506-2715C>T,\N,\N,37/47,Benign,\N,intron_variant,5.121,0.034,1KG_AFR_AF,COL4A4
466116,2:227900989:C>A,NM_000092.4:c.3506-2792G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,5.905,0.001,1KG_EAS_AF,COL4A4
466117,2:227901040:A>G,NM_000092.4:c.3506-2843T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.635,0.0008,1KG_AFR_AF,COL4A4
466118,2:227901074:T>C,NM_000092.4:c.3506-2877A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.987,\N,\N,COL4A4
466119,2:227901126:G>A,NM_000092.4:c.3506-2929C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.367,0.0014,1KG_AMR_AF,COL4A4
466120,2:227901159:C>A,NM_000092.4:c.3506-2962G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.963,\N,\N,COL4A4
466121,2:227901166:A>C,NM_000092.4:c.3506-2969T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.14,0.001,1KG_EUR_AF,COL4A4
466122,2:227901207:C>T,NM_000092.4:c.3506-3010G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.323,0.0008,1KG_AFR_AF,COL4A4
466123,2:227901233:G>A,NM_000092.4:c.3506-3036C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,12.61,0.001,1KG_EUR_AF,COL4A4
466124,2:227901259:T>C,NM_000092.4:c.3506-3062A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.945,0.0014,1KG_AMR_AF,COL4A4
466125,2:227901269:T>A,NM_000092.4:c.3506-3072A>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.055,0.0008,1KG_AFR_AF,COL4A4
466126,2:227901307:T>TA,NM_000092.4:c.3506-3111dup,\N,\N,37/47,Unknown significance,\N,intron_variant,9.507,0.0023,1KG_AFR_AF,COL4A4
466127,2:227901320:T>C,NM_000092.4:c.3506-3123A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.478,0.0029,1KG_AMR_AF,COL4A4
466128,2:227901342:C>T,NM_000092.4:c.3506-3145G>A,\N,\N,37/47,Benign,\N,intron_variant,3.031,0.5706,1KG_SAS_AF,COL4A4
466129,2:227901424:G>A,NM_000092.4:c.3506-3227C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.639,0.0043,1KG_AMR_AF,COL4A4
466130,2:227901526:G>A,NM_000092.4:c.3506-3329C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.78,0.001,1KG_EAS_AF,COL4A4
466131,2:227901527:C>T,NM_000092.4:c.3506-3330G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.013,\N,\N,COL4A4
466132,2:227901527:CGG>C,NM_000092.4:c.3506-3332_3506-3331del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466133,2:227901528:G>T,NM_000092.4:c.3506-3331C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.044,0.0014,1KG_AMR_AF,COL4A4
466134,2:227901585:G>A,NM_000092.4:c.3506-3388C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.84,0.0008,1KG_AFR_AF,COL4A4
466135,2:227901606:C>CT,NM_000092.4:c.3506-3410dup,\N,\N,37/47,Benign,\N,intron_variant,3.327,0.0053,1KG_AFR_AF,COL4A4
466136,2:227901620:A>C,NM_000092.4:c.3506-3423T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.849,\N,\N,COL4A4
466137,2:227901622:C>T,NM_000092.4:c.3506-3425G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.894,0.0008,1KG_AFR_AF,COL4A4
466138,2:227901628:A>G,NM_000092.4:c.3506-3431T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.758,0.0008,1KG_AFR_AF,COL4A4
466139,2:227901682:T>C,NM_000092.4:c.3506-3485A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.349,0.0008,1KG_AFR_AF,COL4A4
466140,2:227901708:T>G,NM_000092.4:c.3506-3511A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.783,\N,\N,COL4A4
466141,2:227901719:A>G,NM_000092.4:c.3506-3522T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.045,\N,\N,COL4A4
466142,2:227901723:T>C,NM_000092.4:c.3506-3526A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.354,\N,\N,COL4A4
466143,2:227901724:A>G,NM_000092.4:c.3506-3527T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.535,\N,\N,COL4A4
466144,2:227901748:G>C,NM_000092.4:c.3506-3551C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.954,\N,\N,COL4A4
466145,2:227901805:G>T,NM_000092.4:c.3506-3608C>A,\N,\N,37/47,Benign,\N,intron_variant,0.403,0.5706,1KG_SAS_AF,COL4A4
466146,2:227901819:C>T,NM_000092.4:c.3506-3622G>A,\N,\N,37/47,Benign,\N,intron_variant,0.068,0.5706,1KG_SAS_AF,COL4A4
466147,2:227901827:G>C,NM_000092.4:c.3506-3630C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.299,\N,\N,COL4A4
466148,2:227901832:G>C,NM_000092.4:c.3506-3635C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.596,\N,\N,COL4A4
466149,2:227901903:C>T,NM_000092.4:c.3506-3706G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,10.85,0.0008,1KG_AFR_AF,COL4A4
466150,2:227901908:C>G,NM_000092.4:c.3506-3711G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.92,0.001,1KG_EAS_AF,COL4A4
466151,2:227901943:C>A,NM_000092.4:c.3506-3746G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.698,\N,\N,COL4A4
466152,2:227901957:T>C,NM_000092.4:c.3506-3760A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.518,\N,\N,COL4A4
466153,2:227901961:C>G,NM_000092.4:c.3506-3764G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.484,\N,\N,COL4A4
466154,2:227901963:A>C,NM_000092.4:c.3506-3766T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.224,\N,\N,COL4A4
466155,2:227901975:C>G,NM_000092.4:c.3506-3778G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.06,\N,\N,COL4A4
466156,2:227901976:A>G,NM_000092.4:c.3506-3779T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.843,\N,\N,COL4A4
466157,2:227902078:T>G,NM_000092.4:c.3506-3881A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,7.618,0.001,1KG_EUR_AF,COL4A4
466158,2:227902086:A>G,NM_000092.4:c.3506-3889T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,8.189,0.001,1KG_EAS_AF,COL4A4
466159,2:227902092:G>A,NM_000092.4:c.3506-3895C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,8.893,0.004,1KG_EAS_AF,COL4A4
466160,2:227902097:C>T,NM_000092.4:c.3506-3900G>A,\N,\N,37/47,Benign,\N,intron_variant,8.753,0.0174,1KG_AFR_AF,COL4A4
466161,2:227902133:A>T,NM_000092.4:c.3506-3936T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.734,0.001,1KG_SAS_AF,COL4A4
466162,2:227902173:G>A,NM_000092.4:c.3506-3976C>T,\N,\N,37/47,Benign,\N,intron_variant,1.56,0.0552,1KG_AFR_AF,COL4A4
466163,2:227902285:C>T,NM_000092.4:c.3506-4088G>A,\N,\N,37/47,Benign,\N,intron_variant,0.076,0.5706,1KG_SAS_AF,COL4A4
466164,2:227902412:CCCA>C,NM_000092.4:c.3506-4218_3506-4216del,\N,\N,37/47,Unknown significance,\N,intron_variant,5.223,0.0023,1KG_AFR_AF,COL4A4
466165,2:227902438:A>G,NM_000092.4:c.3506-4241T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,12.59,0.001,1KG_SAS_AF,COL4A4
466166,2:227902442:C>G,NM_000092.4:c.3506-4245G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,11.84,0.002,1KG_SAS_AF,COL4A4
466167,2:227902501:G>T,NM_000092.4:c.3506-4304C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.413,\N,\N,COL4A4
466168,2:227902503:C>G,NM_000092.4:c.3506-4306G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.105,\N,\N,COL4A4
466169,2:227902503:CA>C,NM_000092.4:c.3506-4307del,\N,\N,37/47,Benign,\N,intron_variant,2.111,0.5695,1KG_SAS_AF,COL4A4
466170,2:227902520:A>G,NM_000092.4:c.3506-4323T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.535,\N,\N,COL4A4
466171,2:227902584:G>A,NM_000092.4:c.3505+4280C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.26,0.0008,1KG_AFR_AF,COL4A4
466172,2:227902600:T>G,NM_000092.4:c.3505+4264A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.656,0.0008,1KG_AFR_AF,COL4A4
466173,2:227902614:G>C,NM_000092.4:c.3505+4250C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.236,0.002,1KG_SAS_AF,COL4A4
466174,2:227902629:T>A,NM_000092.4:c.3505+4235A>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.486,0.001,1KG_EUR_AF,COL4A4
466175,2:227902631:G>A,NM_000092.4:c.3505+4233C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.142,0.001,1KG_EAS_AF,COL4A4
466176,2:227902633:C>A,NM_000092.4:c.3505+4231G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.872,\N,\N,COL4A4
466177,2:227902654:T>C,NM_000092.4:c.3505+4210A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.266,0.001,1KG_EAS_AF,COL4A4
466178,2:227902674:G>C,NM_000092.4:c.3505+4190C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.031,0.001,1KG_EAS_AF,COL4A4
466179,2:227902682:T>G,NM_000092.4:c.3505+4182A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.87,0.001,1KG_EAS_AF,COL4A4
466180,2:227902700:T>C,NM_000092.4:c.3505+4164A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.284,\N,\N,COL4A4
466181,2:227902749:T>G,NM_000092.4:c.3505+4115A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.594,0.002,1KG_EUR_AF,COL4A4
466182,2:227902768:C>T,NM_000092.4:c.3505+4096G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,6.684,\N,\N,COL4A4
466183,2:227902876:G>T,NM_000092.4:c.3505+3988C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.31,\N,\N,COL4A4
466184,2:227902918:C>T,NM_000092.4:c.3505+3946G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.918,\N,\N,COL4A4
466185,2:227902922:T>C,NM_000092.4:c.3505+3942A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.259,\N,\N,COL4A4
466186,2:227902939:C>T,NM_000092.4:c.3505+3925G>A,\N,\N,37/47,Benign,\N,intron_variant,5.864,0.0197,1KG_AFR_AF,COL4A4
466187,2:227902940:G>A,NM_000092.4:c.3505+3924C>T,\N,\N,37/47,Benign,\N,intron_variant,4.971,0.5706,1KG_SAS_AF,COL4A4
466188,2:227902981:G>A,NM_000092.4:c.3505+3883C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.363,0.001,1KG_SAS_AF,COL4A4
466189,2:227902982:G>A,NM_000092.4:c.3505+3882C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.926,\N,\N,COL4A4
466190,2:227903000:T>C,NM_000092.4:c.3505+3864A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.207,0.0014,1KG_AMR_AF,COL4A4
466191,2:227903032:A>C,NM_000092.4:c.3505+3832T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.151,0.001,1KG_EUR_AF,COL4A4
466192,2:227903041:C>A,NM_000092.4:c.3505+3823G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.529,0.0015,1KG_AFR_AF,COL4A4
466193,2:227903044:T>G,NM_000092.4:c.3505+3820A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.586,0.0008,1KG_AFR_AF,COL4A4
466194,2:227903047:C>T,NM_000092.4:c.3505+3817G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.434,\N,\N,COL4A4
466195,2:227903054:G>C,NM_000092.4:c.3505+3810C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.402,\N,\N,COL4A4
466196,2:227903064:G>T,NM_000092.4:c.3505+3800C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.928,0.001,1KG_SAS_AF,COL4A4
466197,2:227903124:T>C,NM_000092.4:c.3505+3740A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.192,0.001,1KG_SAS_AF,COL4A4
466198,2:227903130:C>G,NM_000092.4:c.3505+3734G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.189,0.0008,1KG_AFR_AF,COL4A4
466199,2:227903132:A>G,NM_000092.4:c.3505+3732T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.383,\N,\N,COL4A4
466200,2:227903145:T>C,NM_000092.4:c.3505+3719A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.29,\N,\N,COL4A4
466201,2:227903190:G>T,NM_000092.4:c.3505+3674C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.652,0.0014,1KG_AMR_AF,COL4A4
466202,2:227903227:G>A,NM_000092.4:c.3505+3637C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.352,0.001,1KG_EUR_AF,COL4A4
466203,2:227903228:C>CT,NM_000092.4:c.3505+3635dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466204,2:227903253:C>T,NM_000092.4:c.3505+3611G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,9.205,\N,\N,COL4A4
466205,2:227903270:T>C,NM_000092.4:c.3505+3594A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,6.11,\N,\N,COL4A4
466206,2:227903297:T>C,NM_000092.4:c.3505+3567A>G,\N,\N,37/47,Benign,\N,intron_variant,6.551,0.0098,1KG_AFR_AF,COL4A4
466207,2:227903304:T>C,NM_000092.4:c.3505+3560A>G,\N,\N,37/47,Benign,\N,intron_variant,2.142,0.0454,1KG_AFR_AF,COL4A4
466208,2:227903372:G>A,NM_000092.4:c.3505+3492C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,16.28,0.001,1KG_SAS_AF,COL4A4
466209,2:227903382:G>C,NM_000092.4:c.3505+3482C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,11.7,0.0008,1KG_AFR_AF,COL4A4
466210,2:227903391:C>A,NM_000092.4:c.3505+3473G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,15.81,0.001,1KG_SAS_AF,COL4A4
466211,2:227903393:A>G,NM_000092.4:c.3505+3471T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,15.17,0.0008,1KG_AFR_AF,COL4A4
466212,2:227903445:T>C,NM_000092.4:c.3505+3419A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,15.03,0.0008,1KG_AFR_AF,COL4A4
466213,2:227903449:G>A,NM_000092.4:c.3505+3415C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,16.14,\N,\N,COL4A4
466214,2:227903505:G>T,NM_000092.4:c.3505+3359C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,13.68,0.001,1KG_EUR_AF,COL4A4
466215,2:227903650:T>G,NM_000092.4:c.3505+3214A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.133,\N,\N,COL4A4
466216,2:227903680:T>C,NM_000092.4:c.3505+3184A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,0.912,0.0014,1KG_AMR_AF,COL4A4
466217,2:227903682:G>A,NM_000092.4:c.3505+3182C>T,\N,\N,37/47,Benign,\N,intron_variant,5.206,0.0149,1KG_EAS_AF,COL4A4
466218,2:227903687:G>C,NM_000092.4:c.3505+3177C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.74,0.0038,1KG_AFR_AF,COL4A4
466219,2:227903721:T>C,NM_000092.4:c.3505+3143A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,7.46,\N,\N,COL4A4
466220,2:227903728:T>A,NM_000092.4:c.3505+3136A>T,\N,\N,37/47,Unknown significance,\N,intron_variant,10.52,\N,\N,COL4A4
466221,2:227903730:T>C,NM_000092.4:c.3505+3134A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,8.147,\N,\N,COL4A4
466222,2:227903744:A>G,NM_000092.4:c.3505+3120T>C,\N,\N,37/47,Benign,\N,intron_variant,3.382,0.0098,1KG_AFR_AF,COL4A4
466223,2:227903763:T>G,NM_000092.4:c.3505+3101A>C,\N,\N,37/47,Benign,\N,intron_variant,1.572,0.1271,1KG_AFR_AF,COL4A4
466224,2:227903800:T>G,NM_000092.4:c.3505+3064A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,15.7,0.0008,1KG_AFR_AF,COL4A4
466225,2:227903808:C>T,NM_000092.4:c.3505+3056G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,12.74,\N,\N,COL4A4
466226,2:227903810:G>C,NM_000092.4:c.3505+3054C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,12,\N,\N,COL4A4
466227,2:227903819:T>G,NM_000092.4:c.3505+3045A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,9.425,\N,\N,COL4A4
466228,2:227903824:T>C,NM_000092.4:c.3505+3040A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.08,\N,\N,COL4A4
466229,2:227903854:T>C,NM_000092.4:c.3505+3010A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,7.57,\N,\N,COL4A4
466230,2:227903857:A>C,NM_000092.4:c.3505+3007T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,8.606,\N,\N,COL4A4
466231,2:227903876:A>AGTTTT,NM_000092.4:c.3505+2983_3505+2987dup,\N,\N,37/47,Unknown significance,\N,intron_variant,0.249,\N,\N,COL4A4
466232,2:227903881:T>C,NM_000092.4:c.3505+2983A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.094,\N,\N,COL4A4
466233,2:227903970:C>T,NM_000092.4:c.3505+2894G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.631,\N,\N,COL4A4
466234,2:227904031:C>T,NM_000092.4:c.3505+2833G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.218,0.0008,1KG_AFR_AF,COL4A4
466235,2:227904040:G>A,NM_000092.4:c.3505+2824C>T,\N,\N,37/47,Benign,\N,intron_variant,0.196,0.0242,1KG_AFR_AF,COL4A4
466236,2:227904071:G>T,NM_000092.4:c.3505+2793C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.765,0.001,1KG_EAS_AF,COL4A4
466237,2:227904075:G>A,NM_000092.4:c.3505+2789C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.274,0.0014,1KG_AMR_AF,COL4A4
466238,2:227904077:G>T,NM_000092.4:c.3505+2787C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.224,\N,\N,COL4A4
466239,2:227904082:G>A,NM_000092.4:c.3505+2782C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.602,\N,\N,COL4A4
466240,2:227904107:G>A,NM_000092.4:c.3505+2757C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,5.577,0.001,1KG_SAS_AF,COL4A4
466241,2:227904129:C>T,NM_000092.4:c.3505+2735G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.335,0.003,1KG_EUR_AF,COL4A4
466242,2:227904130:G>C,NM_000092.4:c.3505+2734C>G,\N,\N,37/47,Benign,\N,intron_variant,0.057,0.006,1KG_EAS_AF,COL4A4
466243,2:227904178:C>T,NM_000092.4:c.3505+2686G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.298,\N,\N,COL4A4
466244,2:227904179:G>A,NM_000092.4:c.3505+2685C>T,\N,\N,37/47,Benign,\N,intron_variant,1.536,0.0089,1KG_EAS_AF,COL4A4
466245,2:227904181:C>T,NM_000092.4:c.3505+2683G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.904,0.0038,1KG_AFR_AF,COL4A4
466246,2:227904201:A>G,NM_000092.4:c.3505+2663T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.351,\N,\N,COL4A4
466247,2:227904229:T>C,NM_000092.4:c.3505+2635A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,4.893,0.002,1KG_EAS_AF,COL4A4
466248,2:227904236:A>C,NM_000092.4:c.3505+2628T>G,\N,\N,37/47,Benign,\N,intron_variant,1.084,0.0552,1KG_AFR_AF,COL4A4
466249,2:227904247:A>T,NM_000092.4:c.3505+2617T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.892,0.001,1KG_SAS_AF,COL4A4
466250,2:227904267:C>T,NM_000092.4:c.3505+2597G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.652,\N,\N,COL4A4
466251,2:227904268:A>G,NM_000092.4:c.3505+2596T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.125,\N,\N,COL4A4
466252,2:227904294:C>G,NM_000092.4:c.3505+2570G>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.648,\N,\N,COL4A4
466253,2:227904303:TG>T,NM_000092.4:c.3505+2560del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466254,2:227904307:T>C,NM_000092.4:c.3505+2557A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.485,\N,\N,COL4A4
466255,2:227904354:A>G,NM_000092.4:c.3505+2510T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.098,0.001,1KG_EAS_AF,COL4A4
466256,2:227904357:G>C,NM_000092.4:c.3505+2507C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,5.867,\N,\N,COL4A4
466257,2:227904400:T>C,NM_000092.4:c.3505+2464A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,4.973,\N,\N,COL4A4
466258,2:227904407:T>C,NM_000092.4:c.3505+2457A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.386,\N,\N,COL4A4
466259,2:227904420:C>A,NM_000092.4:c.3505+2444G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,7.45,0.0038,1KG_AFR_AF,COL4A4
466260,2:227904446:C>T,NM_000092.4:c.3505+2418G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.944,0.0008,1KG_AFR_AF,COL4A4
466261,2:227904447:G>A,NM_000092.4:c.3505+2417C>T,\N,\N,37/47,Benign,\N,intron_variant,4.43,0.5716,1KG_SAS_AF,COL4A4
466262,2:227904451:A>G,NM_000092.4:c.3505+2413T>C,\N,\N,37/47,Benign,\N,intron_variant,4.706,0.0367,1KG_EAS_AF,COL4A4
466263,2:227904470:T>C,NM_000092.4:c.3505+2394A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.524,0.001,1KG_SAS_AF,COL4A4
466264,2:227904472:C>T,NM_000092.4:c.3505+2392G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.726,\N,\N,COL4A4
466265,2:227904473:G>A,NM_000092.4:c.3505+2391C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.279,0.0015,1KG_AFR_AF,COL4A4
466266,2:227904497:A>G,NM_000092.4:c.3505+2367T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,6.659,\N,\N,COL4A4
466267,2:227904504:G>A,NM_000092.4:c.3505+2360C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,6.305,\N,\N,COL4A4
466268,2:227904512:C>T,NM_000092.4:c.3505+2352G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,2.461,0.001,1KG_SAS_AF,COL4A4
466269,2:227904518:T>C,NM_000092.4:c.3505+2346A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.269,0.0014,1KG_AMR_AF,COL4A4
466270,2:227904602:A>G,NM_000092.4:c.3505+2262T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.549,\N,\N,COL4A4
466271,2:227904612:A>G,NM_000092.4:c.3505+2252T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.656,0.001,1KG_EUR_AF,COL4A4
466272,2:227904619:C>T,NM_000092.4:c.3505+2245G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.287,\N,\N,COL4A4
466273,2:227904620:G>A,NM_000092.4:c.3505+2244C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.19,0.002,1KG_SAS_AF,COL4A4
466274,2:227904622:A>C,NM_000092.4:c.3505+2242T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.407,0.0008,1KG_AFR_AF,COL4A4
466275,2:227904758:C>T,NM_000092.4:c.3505+2106G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,3.437,\N,\N,COL4A4
466276,2:227904768:T>TG,NM_000092.4:c.3505+2095_3505+2096insC,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466277,2:227904783:T>C,NM_000092.4:c.3505+2081A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,3.15,0.001,1KG_EUR_AF,COL4A4
466278,2:227904831:C>T,NM_000092.4:c.3505+2033G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.894,\N,\N,COL4A4
466279,2:227904841:T>C,NM_000092.4:c.3505+2023A>G,\N,\N,37/47,Benign,\N,intron_variant,3.653,0.0416,1KG_AFR_AF,COL4A4
466280,2:227904853:T>C,NM_000092.4:c.3505+2011A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.019,0.0008,1KG_AFR_AF,COL4A4
466281,2:227904855:A>C,NM_000092.4:c.3505+2009T>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.57,\N,\N,COL4A4
466282,2:227904877:G>A,NM_000092.4:c.3505+1987C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,11.48,0.0015,1KG_AFR_AF,COL4A4
466283,2:227904892:T>C,NM_000092.4:c.3505+1972A>G,\N,\N,37/47,Benign,\N,intron_variant,6.605,0.0454,1KG_AFR_AF,COL4A4
466284,2:227904894:C>T,NM_000092.4:c.3505+1970G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,6.222,0.002,1KG_SAS_AF,COL4A4
466285,2:227904932:C>T,NM_000092.4:c.3505+1932G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.758,\N,\N,COL4A4
466286,2:227904933:G>A,NM_000092.4:c.3505+1931C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.669,0.0014,1KG_AMR_AF,COL4A4
466287,2:227904939:G>A,NM_000092.4:c.3505+1925C>T,\N,\N,37/47,Benign,\N,intron_variant,1.867,0.6536,1KG_AFR_AF,COL4A4
466288,2:227904970:G>C,NM_000092.4:c.3505+1894C>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.655,\N,\N,COL4A4
466289,2:227905004:C>T,NM_000092.4:c.3505+1860G>A,\N,\N,37/47,Benign,\N,intron_variant,0.077,0.006,1KG_EAS_AF,COL4A4
466290,2:227905010:T>G,NM_000092.4:c.3505+1854A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,2.929,0.0008,1KG_AFR_AF,COL4A4
466291,2:227905019:T>G,NM_000092.4:c.3505+1845A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.99,\N,\N,COL4A4
466292,2:227905052:G>A,NM_000092.4:c.3505+1812C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.956,0.001,1KG_SAS_AF,COL4A4
466293,2:227905063:T>C,NM_000092.4:c.3505+1801A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.147,0.0008,1KG_AFR_AF,COL4A4
466294,2:227905076:C>T,NM_000092.4:c.3505+1788G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,3.755,0.0008,1KG_AFR_AF,COL4A4
466295,2:227905102:C>G,NM_000092.4:c.3505+1762G>C,\N,\N,37/47,Benign,\N,intron_variant,1.794,0.0219,1KG_AFR_AF,COL4A4
466296,2:227905105:T>A,NM_000092.4:c.3505+1759A>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.567,\N,\N,COL4A4
466297,2:227905201:G>T,NM_000092.4:c.3505+1663C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.268,0.0038,1KG_AFR_AF,COL4A4
466298,2:227905230:G>C,NM_000092.4:c.3505+1634C>G,\N,\N,37/47,Benign,\N,intron_variant,0.196,0.0356,1KG_AFR_AF,COL4A4
466299,2:227905234:G>A,NM_000092.4:c.3505+1630C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,5.602,0.0008,1KG_AFR_AF,COL4A4
466300,2:227905284:CT>C,NM_000092.4:c.3505+1579del,\N,\N,37/47,Unknown significance,\N,intron_variant,6.748,\N,\N,COL4A4
466301,2:227905334:C>T,NM_000092.4:c.3505+1530G>A,\N,\N,37/47,Benign,\N,intron_variant,0.257,0.0166,1KG_AFR_AF,COL4A4
466302,2:227905335:G>A,NM_000092.4:c.3505+1529C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.273,\N,\N,COL4A4
466303,2:227905345:G>A,NM_000092.4:c.3505+1519C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.076,0.001,1KG_EAS_AF,COL4A4
466304,2:227905374:C>CA,NM_000092.4:c.3505+1489dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466305,2:227905422:C>G,NM_000092.4:c.3505+1442G>C,\N,\N,37/47,Benign,\N,intron_variant,0.681,0.0083,1KG_AFR_AF,COL4A4
466306,2:227905432:C>A,NM_000092.4:c.3505+1432G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.755,\N,\N,COL4A4
466307,2:227905455:T>C,NM_000092.4:c.3505+1409A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,4.247,\N,\N,COL4A4
466308,2:227905472:G>A,NM_000092.4:c.3505+1392C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,9.568,0.001,1KG_EAS_AF,COL4A4
466309,2:227905485:G>A,NM_000092.4:c.3505+1379C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,11.52,0.001,1KG_EAS_AF,COL4A4
466310,2:227905495:G>A,NM_000092.4:c.3505+1369C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,9.385,\N,\N,COL4A4
466311,2:227905515:A>C,NM_000092.4:c.3505+1349T>G,\N,\N,37/47,Benign,\N,intron_variant,5.312,0.0454,1KG_AFR_AF,COL4A4
466312,2:227905522:C>T,NM_000092.4:c.3505+1342G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.055,\N,\N,COL4A4
466313,2:227905523:G>A,NM_000092.4:c.3505+1341C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.782,0.001,1KG_EAS_AF,COL4A4
466314,2:227905565:C>A,NM_000092.4:c.3505+1299G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.25,0.0008,1KG_AFR_AF,COL4A4
466315,2:227905570:C>T,NM_000092.4:c.3505+1294G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.485,\N,\N,COL4A4
466316,2:227905574:CA>C,NM_000092.4:c.3505+1289del,\N,\N,37/47,Benign,\N,intron_variant,1.674,0.0089,1KG_EAS_AF,COL4A4
466317,2:227905653:T>C,NM_000092.4:c.3505+1211A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.096,0.0008,1KG_AFR_AF,COL4A4
466318,2:227905744:G>T,NM_000092.4:c.3505+1120C>A,\N,\N,37/47,Benign,\N,intron_variant,0.789,0.0333,1KG_AFR_AF,COL4A4
466319,2:227905750:G>A,NM_000092.4:c.3505+1114C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.786,0.001,1KG_EAS_AF,COL4A4
466320,2:227905761:C>A,NM_000092.4:c.3505+1103G>T,\N,\N,37/47,Benign,\N,intron_variant,1.303,0.0068,1KG_AFR_AF,COL4A4
466321,2:227905762:A>G,NM_000092.4:c.3505+1102T>C,\N,\N,37/47,Benign,\N,intron_variant,1.692,0.0068,1KG_AFR_AF,COL4A4
466322,2:227905792:G>A,NM_000092.4:c.3505+1072C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.694,0.001,1KG_SAS_AF,COL4A4
466323,2:227905793:A>G,NM_000092.4:c.3505+1071T>C,\N,\N,37/47,Benign,\N,intron_variant,0.7,0.0696,1KG_AFR_AF,COL4A4
466324,2:227905799:A>G,NM_000092.4:c.3505+1065T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.764,0.001,1KG_EAS_AF,COL4A4
466325,2:227905808:T>TA,NM_000092.4:c.3505+1055_3505+1056insT,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466326,2:227905830:G>T,NM_000092.4:c.3505+1034C>A,\N,\N,37/47,Benign,\N,intron_variant,0.211,0.0109,1KG_EAS_AF,COL4A4
466327,2:227905937:G>T,NM_000092.4:c.3505+927C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.793,0.0023,1KG_AFR_AF,COL4A4
466328,2:227905990:G>C,NM_000092.4:c.3505+874C>G,\N,\N,37/47,Benign,\N,intron_variant,0.123,0.0219,1KG_AFR_AF,COL4A4
466329,2:227906029:T>C,NM_000092.4:c.3505+835A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.281,\N,\N,COL4A4
466330,2:227906058:C>T,NM_000092.4:c.3505+806G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.323,\N,\N,COL4A4
466331,2:227906085:G>A,NM_000092.4:c.3505+779C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.811,0.0008,1KG_AFR_AF,COL4A4
466332,2:227906090:C>T,NM_000092.4:c.3505+774G>A,\N,\N,37/47,Unknown significance,\N,intron_variant,0.588,0.0023,1KG_AFR_AF,COL4A4
466333,2:227906091:G>A,NM_000092.4:c.3505+773C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.171,0.001,1KG_EAS_AF,COL4A4
466334,2:227906107:G>A,NM_000092.4:c.3505+757C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.695,0.0015,1KG_AFR_AF,COL4A4
466335,2:227906132:GA>G,NM_000092.4:c.3505+731del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466336,2:227906137:T>C,NM_000092.4:c.3505+727A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.513,0.001,1KG_EAS_AF,COL4A4
466337,2:227906252:G>A,NM_000092.4:c.3505+612C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.221,\N,\N,COL4A4
466338,2:227906267:G>A,NM_000092.4:c.3505+597C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.479,0.001,1KG_SAS_AF,COL4A4
466339,2:227906270:T>C,NM_000092.4:c.3505+594A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,1.799,0.001,1KG_SAS_AF,COL4A4
466340,2:227906278:A>G,NM_000092.4:c.3505+586T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,3.321,\N,\N,COL4A4
466341,2:227906278:AC>A,NM_000092.4:c.3505+585del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466342,2:227906290:G>A,NM_000092.4:c.3505+574C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,4.324,\N,\N,COL4A4
466343,2:227906314:G>A,NM_000092.4:c.3505+550C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.381,0.002,1KG_SAS_AF,COL4A4
466344,2:227906319:T>G,NM_000092.4:c.3505+545A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.5,0.001,1KG_EAS_AF,COL4A4
466345,2:227906332:G>A,NM_000092.4:c.3505+532C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.31,\N,\N,COL4A4
466346,2:227906354:CA>C,NM_000092.4:c.3505+509del,\N,\N,37/47,Unknown significance,\N,intron_variant,3.871,0.0014,1KG_AMR_AF,COL4A4
466347,2:227906387:G>A,NM_000092.4:c.3505+477C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.765,0.0029,1KG_AMR_AF,COL4A4
466348,2:227906402:GAC>G,NM_000092.4:c.3505+460_3505+461del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.286,\N,\N,COL4A4
466349,2:227906404:CAG>C,NM_000092.4:c.3505+458_3505+459del,\N,\N,37/47,Benign,\N,intron_variant,2.541,0.0082,1KG_SAS_AF,COL4A4
466350,2:227906421:A>G,NM_000092.4:c.3505+443T>C,\N,\N,37/47,Benign,\N,intron_variant,0.523,0.0703,1KG_AFR_AF,COL4A4
466351,2:227906421:AAG>A,NM_000092.4:c.3505+441_3505+442del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466352,2:227906433:G>A,NM_000092.4:c.3505+431C>T,\N,\N,37/47,Benign,\N,intron_variant,1.486,0.0287,1KG_AFR_AF,COL4A4
466353,2:227906436:G>GAGGAAGGAAGGA,NM_000092.4:c.3505+416_3505+427dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466354,2:227906436:GAGGAAGGA>G,NM_000092.4:c.3505+420_3505+427del,\N,\N,37/47,Unknown significance,\N,intron_variant,2.23,\N,\N,COL4A4
466355,2:227906440:A>G,NM_000092.4:c.3505+424T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.697,0.0038,1KG_AFR_AF,COL4A4
466356,2:227906487:GAAGGAAGGAAGGAAGGGAAAGAAA>G,NM_000092.4:c.3505+353_3505+376del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466357,2:227906500:A>G,NM_000092.4:c.3505+364T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.092,\N,\N,COL4A4
466358,2:227906503:GGAAA>G,NM_000092.4:c.3505+357_3505+360del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.138,\N,\N,COL4A4
466359,2:227906509:A>G,NM_000092.4:c.3505+355T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.027,\N,\N,COL4A4
466360,2:227906517:AAAGG>A,NM_000092.4:c.3505+343_3505+346del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.102,\N,\N,COL4A4
466361,2:227906521:G>A,NM_000092.4:c.3505+343C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.342,\N,\N,COL4A4
466362,2:227906521:GAAGA>G,NM_000092.4:c.3505+339_3505+342del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.076,\N,\N,COL4A4
466363,2:227906524:GAA>G,NM_000092.4:c.3505+338_3505+339del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.039,\N,\N,COL4A4
466364,2:227906544:GAA>G,NM_000092.4:c.3505+318_3505+319del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.065,\N,\N,COL4A4
466365,2:227906544:GAAAGAA>G,NM_000092.4:c.3505+314_3505+319del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466366,2:227906548:GAA>G,NM_000092.4:c.3505+314_3505+315del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
466367,2:227906548:GAAAGAA>G,NM_000092.4:c.3505+310_3505+315del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.123,\N,\N,COL4A4
466368,2:227906550:A>G,NM_000092.4:c.3505+314T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,1.147,\N,\N,COL4A4
466369,2:227906552:GAA>G,NM_000092.4:c.3505+310_3505+311del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
466370,2:227906552:GAAA>G,NM_000092.4:c.3505+309_3505+311del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466371,2:227906554:A>AAG,NM_000092.4:c.3505+308_3505+309dup,\N,\N,37/47,Unknown significance,\N,intron_variant,0.093,\N,\N,COL4A4
466372,2:227906556:GAAAGAAAGAGAA>G,NM_000092.4:c.3505+296_3505+307del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466373,2:227906560:G>A,NM_000092.4:c.3505+304C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.831,\N,\N,COL4A4
466374,2:227906562:A>G,NM_000092.4:c.3505+302T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.874,\N,\N,COL4A4
466375,2:227906562:AAG>A,NM_000092.4:c.3505+300_3505+301del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.118,\N,\N,COL4A4
466376,2:227906564:G>A,NM_000092.4:c.3505+300C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.544,\N,\N,COL4A4
466377,2:227906564:G>GAGAAAGAAAGAAAGAAAGAA,NM_000092.4:c.3505+280_3505+299dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466378,2:227906564:GAGAAAGAA>G,NM_000092.4:c.3505+292_3505+299del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466379,2:227906566:G>A,NM_000092.4:c.3505+298C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.615,\N,\N,COL4A4
466380,2:227906568:A>G,NM_000092.4:c.3505+296T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.874,\N,\N,COL4A4
466381,2:227906574:GAA>G,NM_000092.4:c.3505+288_3505+289del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.045,\N,\N,COL4A4
466382,2:227906574:GAAAGAAAGAA>G,NM_000092.4:c.3505+280_3505+289del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
466383,2:227906584:A>G,NM_000092.4:c.3505+280T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.758,\N,\N,COL4A4
466384,2:227906602:G>GA,NM_000092.4:c.3505+261dup,\N,\N,37/47,Unknown significance,\N,intron_variant,0.094,\N,\N,COL4A4
466385,2:227906606:G>A,NM_000092.4:c.3505+258C>T,\N,\N,37/47,Benign,\N,intron_variant,0.687,0.0144,1KG_AFR_AF,COL4A4
466386,2:227906610:G>A,NM_000092.4:c.3505+254C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.689,0.0045,1KG_AFR_AF,COL4A4
466387,2:227906614:G>A,NM_000092.4:c.3505+250C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.691,0.0023,1KG_AFR_AF,COL4A4
466388,2:227906618:G>A,NM_000092.4:c.3505+246C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,0.387,0.0023,1KG_AFR_AF,COL4A4
466389,2:227906620:A>G,NM_000092.4:c.3505+244T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.442,\N,\N,COL4A4
466390,2:227906620:AAG>A,NM_000092.4:c.3505+242_3505+243del,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466391,2:227906622:G>A,NM_000092.4:c.3505+242C>T,\N,\N,37/47,Benign,\N,intron_variant,0.295,0.0348,1KG_AFR_AF,COL4A4
466392,2:227906623:A>G,NM_000092.4:c.3505+241T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.297,0.0008,1KG_AFR_AF,COL4A4
466393,2:227906624:A>G,NM_000092.4:c.3505+240T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,0.17,0.0041,1KG_SAS_AF,COL4A4
466394,2:227906626:G>GA,NM_000092.4:c.3505+237dup,\N,\N,37/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466395,2:227906630:GAA>G,NM_000092.4:c.3505+232_3505+233del,\N,\N,37/47,Unknown significance,\N,intron_variant,0.076,\N,\N,COL4A4
466396,2:227906631:A>G,NM_000092.4:c.3505+233T>C,\N,\N,37/47,Benign,\N,intron_variant,0.07,0.0106,1KG_AFR_AF,COL4A4
466397,2:227906632:A>AAG,NM_000092.4:c.3505+230_3505+231dup,\N,\N,37/47,Unknown significance,\N,intron_variant,0.188,\N,\N,COL4A4
466398,2:227906656:A>G,NM_000092.4:c.3505+208T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,5.863,0.001,1KG_EUR_AF,COL4A4
466399,2:227906703:G>A,NM_000092.4:c.3505+161C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.226,0.0023,1KG_AFR_AF,COL4A4
466400,2:227906704:C>A,NM_000092.4:c.3505+160G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.04,0.0023,1KG_AFR_AF,COL4A4
466401,2:227906719:A>T,NM_000092.4:c.3505+145T>A,\N,\N,37/47,Unknown significance,\N,intron_variant,6.147,\N,\N,COL4A4
466402,2:227906747:C>A,NM_000092.4:c.3505+117G>T,\N,\N,37/47,Benign,\N,intron_variant,1.012,0.0129,1KG_AFR_AF,COL4A4
466403,2:227906748:G>A,NM_000092.4:c.3505+116C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,3.351,\N,\N,COL4A4
466404,2:227906756:G>A,NM_000092.4:c.3505+108C>T,\N,\N,37/47,Benign,\N,intron_variant,4.522,0.0189,1KG_EUR_AF,COL4A4
466405,2:227906776:G>T,NM_000092.4:c.3505+88C>A,\N,\N,37/47,Unknown significance,\N,intron_variant,1.294,0.001,1KG_SAS_AF,COL4A4
466406,2:227906814:C>A,NM_000092.4:c.3505+50G>T,\N,\N,37/47,Unknown significance,\N,intron_variant,5.531,0.000060562,EXAC_SAS_AF,COL4A4
466407,2:227906820:T>C,NM_000092.4:c.3505+44A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,2.106,0.0000149867,EXAC_NFE_AF,COL4A4
466408,2:227906829:A>G,NM_000092.4:c.3505+35T>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.656,0.000115955,EXAC_EAS_AF,COL4A4
466409,2:227906833:T>G,NM_000092.4:c.3505+31A>C,\N,\N,37/47,Unknown significance,\N,intron_variant,4.395,0.0000149853,EXAC_NFE_AF,COL4A4
466410,2:227906838:G>A,NM_000092.4:c.3505+26C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,2.493,0.00015124,EXAC_FIN_AF,COL4A4
466411,2:227906839:T>C,NM_000092.4:c.3505+25A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,4.04,0.0000149853,EXAC_NFE_AF,COL4A4
466412,2:227906845:G>A,NM_000092.4:c.3505+19C>T,\N,\N,37/47,Unknown significance,\N,intron_variant,1.918,0.0000149853,EXAC_NFE_AF,COL4A4
466413,2:227906855:T>C,NM_000092.4:c.3505+9A>G,\N,\N,37/47,Unknown significance,\N,intron_variant,11.9,0.00010202,EXAC_AFR_AF,COL4A4
466414,2:227906860:T>C,NM_000092.4:c.3505+4A>G,\N,\N,37/47,Unknown significance,\N,splice_region_variant&intron_variant,13.25,0.0000149853,EXAC_NFE_AF,COL4A4
466415,2:227906863:C>A,NM_000092.4:c.3505+1G>T,\N,\N,37/47,Unknown significance,\N,splice_donor_variant,27.2,\N,\N,COL4A4
466416,2:227906874:C>T,NM_000092.4:c.3495G>A,NP_000083.3:p.Pro1165=,37/48,\N,Unknown significance,\N,synonymous_variant,14.82,0.000115929,EXAC_EAS_AF,COL4A4
466417,2:227906875:G>A,NM_000092.4:c.3494C>T,NP_000083.3:p.Pro1165Leu,37/48,\N,Unknown significance,\N,missense_variant,25.3,0.000121773,EVS_EA_AF,COL4A4
466418,2:227906877:A>G,NM_000092.4:c.3492T>C,NP_000083.3:p.Pro1164=,37/48,\N,Unknown significance,\N,synonymous_variant,10.11,0.00010202,EXAC_AFR_AF,COL4A4
466419,2:227906883:T>C,NM_000092.4:c.3486A>G,NP_000083.3:p.Pro1162=,37/48,\N,Benign,\N,synonymous_variant,7.221,0.0575,1KG_AFR_AF,COL4A4
466420,2:227906898:C>A,NM_000092.4:c.3471G>T,NP_000083.3:p.Gly1157=,37/48,\N,Unknown significance,\N,synonymous_variant,15.26,0.00040808,EXAC_AFR_AF,COL4A4
466421,2:227906904:G>T,NM_000092.4:c.3465C>A,NP_000083.3:p.Leu1155=,37/48,\N,Unknown significance,\N,synonymous_variant,5.017,0.000060562,EXAC_SAS_AF,COL4A4
466422,2:227906908:C>T,NM_000092.4:c.3461G>A,NP_000083.3:p.Gly1154Asp,37/48,\N,Unknown significance,\N,missense_variant,25.5,0.0005101,EXAC_AFR_AF,COL4A4
466423,2:227906913:T>C,NM_000092.4:c.3456A>G,NP_000083.3:p.Pro1152=,37/48,\N,Unknown significance,\N,synonymous_variant,4.862,0.0000149871,EXAC_NFE_AF,COL4A4
466424,2:227906917:C>G,NM_000092.4:c.3452G>C,NP_000083.3:p.Gly1151Ala,37/48,\N,Pathogenic,Alport syndrome,missense_variant,24.4,0.000244141,EVS_EA_AF,COL4A4
466425,2:227906919:A>G,NM_000092.4:c.3450T>C,NP_000083.3:p.Pro1150=,37/48,\N,Unknown significance,\N,synonymous_variant,7.639,0.00025974,EXAC_AMR_AF,COL4A4
466426,2:227906919:A>T,NM_000092.4:c.3450T>A,NP_000083.3:p.Pro1150=,37/48,\N,Unknown significance,\N,synonymous_variant,2.713,0.000579912,EXAC_EAS_AF,COL4A4
466427,2:227906921:G>A,NM_000092.4:c.3448C>T,NP_000083.3:p.Pro1150Ser,37/48,\N,Unknown significance,\N,missense_variant,23.1,\N,\N,COL4A4
466428,2:227906922:G>A,NM_000092.4:c.3447C>T,NP_000083.3:p.Asp1149=,37/48,\N,Unknown significance,\N,synonymous_variant,9.537,0.000231965,EXAC_EAS_AF,COL4A4
466429,2:227906922:G>T,NM_000092.4:c.3447C>A,NP_000083.3:p.Asp1149Glu,37/48,\N,Likely benign,\N,missense_variant,12.14,0.0000149894,EXAC_NFE_AF,COL4A4
466430,2:227906949:C>T,NM_000092.4:c.3420G>A,NP_000083.3:p.Leu1140=,37/48,\N,Unknown significance,\N,synonymous_variant,12.91,0.0000150245,EXAC_NFE_AF,COL4A4
466431,2:227906962:C>G,NM_000092.4:c.3407G>C,NP_000083.3:p.Gly1136Ala,37/48,\N,Unknown significance,\N,missense_variant,24.1,0.0000150811,EXAC_NFE_AF,COL4A4
466432,2:227906963:C>G,NM_000092.4:c.3406G>C,NP_000083.3:p.Gly1136Arg,37/48,\N,Unknown significance,\N,missense_variant,26.3,0.0000150852,EXAC_NFE_AF,COL4A4
466433,2:227906963:C>T,NM_000092.4:c.3406G>A,NP_000083.3:p.Gly1136Arg,37/48,\N,Unknown significance,\N,missense_variant,27.1,0.0000150852,EXAC_NFE_AF,COL4A4
466434,2:227906964:G>A,NM_000092.4:c.3405C>T,NP_000083.3:p.His1135=,37/48,\N,Unknown significance,\N,synonymous_variant,10.38,0.000234467,EXAC_EAS_AF,COL4A4
466435,2:227906974:G>A,NM_000092.4:c.3398-3C>T,\N,\N,36/47,Unknown significance,\N,splice_region_variant&intron_variant,12.83,0.0000305623,EXAC_NFE_AF,COL4A4
466436,2:227906998:A>G,NM_000092.4:c.3398-27T>C,\N,\N,36/47,Unknown significance,\N,intron_variant,3.112,0.000107204,EXAC_AFR_AF,COL4A4
466437,2:227907001:G>T,NM_000092.4:c.3398-30C>A,\N,\N,36/47,Unknown significance,\N,intron_variant,1.239,0.0000161619,EXAC_NFE_AF,COL4A4
466438,2:227907006:ATAATAAATGAAT>A,NM_000092.4:c.3398-47_3398-36del,\N,\N,36/47,Unknown significance,\N,intron_variant,8.513,0.0000327364,EXAC_NFE_AF,COL4A4
466439,2:227907009:A>G,NM_000092.4:c.3398-38T>C,\N,\N,36/47,Unknown significance,\N,intron_variant,2.324,\N,\N,COL4A4
466440,2:227907014:T>A,NM_000092.4:c.3398-43A>T,\N,\N,36/47,Unknown significance,\N,intron_variant,8.09,\N,\N,COL4A4
466441,2:227907014:T>C,NM_000092.4:c.3398-43A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,3.82,0.0000643501,EXAC_SAS_AF,COL4A4
466442,2:227907056:T>C,NM_000092.4:c.3398-85A>G,\N,\N,36/47,Benign,\N,intron_variant,2.068,0.0333,1KG_AFR_AF,COL4A4
466443,2:227907063:C>T,NM_000092.4:c.3398-92G>A,\N,\N,36/47,Unknown significance,\N,intron_variant,3.97,0.002,1KG_EUR_AF,COL4A4
466444,2:227907064:G>A,NM_000092.4:c.3398-93C>T,\N,\N,36/47,Unknown significance,\N,intron_variant,0.092,\N,\N,COL4A4
466445,2:227907075:T>G,NM_000092.4:c.3398-104A>C,\N,\N,36/47,Unknown significance,\N,intron_variant,3.341,\N,\N,COL4A4
466446,2:227907123:C>A,NM_000092.4:c.3398-152G>T,\N,\N,36/47,Unknown significance,\N,intron_variant,3.69,0.001,1KG_EUR_AF,COL4A4
466447,2:227907138:G>T,NM_000092.4:c.3398-167C>A,\N,\N,36/47,Unknown significance,\N,intron_variant,2.625,\N,\N,COL4A4
466448,2:227907175:T>C,NM_000092.4:c.3398-204A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,2.424,0.0014,1KG_AMR_AF,COL4A4
466449,2:227907187:C>A,NM_000092.4:c.3398-216G>T,\N,\N,36/47,Benign,\N,intron_variant,3.005,0.0091,1KG_AFR_AF,COL4A4
466450,2:227907200:T>C,NM_000092.4:c.3398-229A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,3.804,0.001,1KG_SAS_AF,COL4A4
466451,2:227907222:C>T,NM_000092.4:c.3398-251G>A,\N,\N,36/47,Unknown significance,\N,intron_variant,3.437,\N,\N,COL4A4
466452,2:227907276:AAAACAAAC>A,NM_000092.4:c.3398-313_3398-306del,\N,\N,36/47,Benign,\N,intron_variant,6.737,0.028,1KG_AFR_AF,COL4A4
466453,2:227907311:A>G,NM_000092.4:c.3398-340T>C,\N,\N,36/47,Unknown significance,\N,intron_variant,5.893,\N,\N,COL4A4
466454,2:227907326:G>A,NM_000092.4:c.3398-355C>T,\N,\N,36/47,Unknown significance,\N,intron_variant,2.532,0.0015,1KG_AFR_AF,COL4A4
466455,2:227907342:G>A,NM_000092.4:c.3398-371C>T,\N,\N,36/47,Unknown significance,\N,intron_variant,6.658,0.001,1KG_EAS_AF,COL4A4
466456,2:227907386:C>T,NM_000092.4:c.3397+407G>A,\N,\N,36/47,Benign,\N,intron_variant,0.085,0.028,1KG_AFR_AF,COL4A4
466457,2:227907387:G>A,NM_000092.4:c.3397+406C>T,\N,\N,36/47,Unknown significance,\N,intron_variant,1.32,\N,\N,COL4A4
466458,2:227907436:T>C,NM_000092.4:c.3397+357A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,2.599,\N,\N,COL4A4
466459,2:227907479:T>C,NM_000092.4:c.3397+314A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,0.543,0.0008,1KG_AFR_AF,COL4A4
466460,2:227907488:G>C,NM_000092.4:c.3397+305C>G,\N,\N,36/47,Benign,\N,intron_variant,0.115,0.028,1KG_AFR_AF,COL4A4
466461,2:227907521:G>C,NM_000092.4:c.3397+272C>G,\N,\N,36/47,Unknown significance,\N,intron_variant,0.518,0.0008,1KG_AFR_AF,COL4A4
466462,2:227907532:C>T,NM_000092.4:c.3397+261G>A,\N,\N,36/47,Benign,\N,intron_variant,2.27,0.0068,1KG_AFR_AF,COL4A4
466463,2:227907561:G>T,NM_000092.4:c.3397+232C>A,\N,\N,36/47,Unknown significance,\N,intron_variant,1.249,0.0029,1KG_AMR_AF,COL4A4
466464,2:227907627:G>T,NM_000092.4:c.3397+166C>A,\N,\N,36/47,Benign,\N,intron_variant,1.831,0.1271,1KG_AFR_AF,COL4A4
466465,2:227907643:T>C,NM_000092.4:c.3397+150A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,1.569,0.002,1KG_EAS_AF,COL4A4
466466,2:227907679:C>G,NM_000092.4:c.3397+114G>C,\N,\N,36/47,Unknown significance,\N,intron_variant,3.548,0.001,1KG_SAS_AF,COL4A4
466467,2:227907682:G>C,NM_000092.4:c.3397+111C>G,\N,\N,36/47,Unknown significance,\N,intron_variant,0.956,\N,\N,COL4A4
466468,2:227907692:G>C,NM_000092.4:c.3397+101C>G,\N,\N,36/47,Unknown significance,\N,intron_variant,1.056,0.0014,1KG_AMR_AF,COL4A4
466469,2:227907702:T>A,NM_000092.4:c.3397+91A>T,\N,\N,36/47,Unknown significance,\N,intron_variant,6.834,\N,\N,COL4A4
466470,2:227907711:G>A,NM_000092.4:c.3397+82C>T,\N,\N,36/47,Benign,\N,intron_variant,3.026,0.0174,1KG_AFR_AF,COL4A4
466471,2:227907717:T>C,NM_000092.4:c.3397+76A>G,\N,\N,36/47,Unknown significance,\N,intron_variant,2.464,\N,\N,COL4A4
466472,2:227907744:C>G,NM_000092.4:c.3397+49G>C,\N,\N,36/47,Unknown significance,\N,intron_variant,0.985,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,COL4A4
466473,2:227907744:C>T,NM_000092.4:c.3397+49G>A,\N,\N,36/47,Unknown significance,\N,intron_variant,1.562,0.0000199053,EXAC_NFE_AF,COL4A4
466474,2:227907752:C>A,NM_000092.4:c.3397+41G>T,\N,\N,36/47,Benign,\N,intron_variant,1.991,0.0356,1KG_AFR_AF,COL4A4
466475,2:227907754:A>G,NM_000092.4:c.3397+39T>C,\N,\N,36/47,Unknown significance,\N,intron_variant,2.317,\N,\N,COL4A4
466476,2:227907794:T>C,NM_000092.4:c.3396A>G,NP_000083.3:p.Pro1132=,36/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.79,0.0000161389,EXAC_NFE_AF,COL4A4
466477,2:227907795:G>A,NM_000092.4:c.3395C>T,NP_000083.3:p.Pro1132Leu,36/48,\N,Likely pathogenic,Thin basement membrane disease,missense_variant&splice_region_variant,23.4,\N,\N,COL4A4
466478,2:227907796:G>A,NM_000092.4:c.3394C>T,NP_000083.3:p.Pro1132Ser,36/48,\N,Unknown significance,\N,missense_variant,21.9,0.000121921,EVS_EA_AF,COL4A4
466479,2:227907800:C>A,NM_000092.4:c.3390G>T,NP_000083.3:p.Gly1130=,36/48,\N,Unknown significance,\N,synonymous_variant,16.81,0.000121507,EXAC_EAS_AF,COL4A4
466480,2:227907804:G>C,NM_000092.4:c.3386C>G,NP_000083.3:p.Pro1129Arg,36/48,\N,Unknown significance,\N,missense_variant,20.7,0.0000894935,EXAC_AMR_AF,COL4A4
466481,2:227907806:T>G,NM_000092.4:c.3384A>C,NP_000083.3:p.Pro1128=,36/48,\N,Unknown significance,\N,synonymous_variant,9.705,0.0000156001,EXAC_NFE_AF,COL4A4
466482,2:227907813:G>A,NM_000092.4:c.3377C>T,NP_000083.3:p.Ser1126Phe,36/48,\N,Likely benign,\N,missense_variant,11.74,0.000236855,EXAC_EAS_AF,COL4A4
466483,2:227907814:A>T,NM_000092.4:c.3376T>A,NP_000083.3:p.Ser1126Thr,36/48,\N,Likely benign,\N,missense_variant,7.286,0.0000154488,EXAC_NFE_AF,COL4A4
466484,2:227907816:G>T,NM_000092.4:c.3374C>A,NP_000083.3:p.Ser1125Tyr,36/48,\N,Likely benign,\N,missense_variant,3.503,\N,\N,COL4A4
466485,2:227907822:G>A,NM_000092.4:c.3368C>T,NP_000083.3:p.Pro1123Leu,36/48,\N,Unknown significance,\N,missense_variant,24.9,0.0000153407,EXAC_NFE_AF,COL4A4
466486,2:227907833:C>G,NM_000092.4:c.3357G>C,NP_000083.3:p.Arg1119Ser,36/48,\N,Likely benign,\N,missense_variant,16.67,0.000087382,EXAC_AMR_AF,COL4A4
466487,2:227907835:T>C,NM_000092.4:c.3355A>G,NP_000083.3:p.Arg1119Gly,36/48,\N,Likely benign,\N,missense_variant,7.099,0.00017452,EXAC_AMR_AF,COL4A4
466488,2:227907838:C>T,NM_000092.4:c.3352G>A,NP_000083.3:p.Gly1118Arg,36/48,\N,Unknown significance,\N,missense_variant,24.5,0.001,1KG_EAS_AF,COL4A4
466489,2:227907839:A>G,NM_000092.4:c.3351T>C,NP_000083.3:p.Pro1117=,36/48,\N,Unknown significance,\N,synonymous_variant,0.36,0.000116713,EXAC_EAS_AF,COL4A4
466490,2:227907862:T>C,NM_000092.4:c.3328A>G,NP_000083.3:p.Ile1110Val,36/48,\N,Likely benign,\N,missense_variant,0.017,0.000121832,EVS_EA_AF,COL4A4
466491,2:227907878:C>A,NM_000092.4:c.3312G>T,NP_000083.3:p.Glu1104Asp,36/48,\N,Likely benign,\N,missense_variant,4.063,0.0000152073,EXAC_NFE_AF,COL4A4
466492,2:227907878:C>G,NM_000092.4:c.3312G>C,NP_000083.3:p.Glu1104Asp,36/48,\N,Likely benign,\N,missense_variant,1.649,0.000121892,EXAC_SAS_AF,COL4A4
466493,2:227907879:T>G,NM_000092.4:c.3311A>C,NP_000083.3:p.Glu1104Ala,36/48,\N,Unknown significance,\N,missense_variant,16.73,0.000173913,EXAC_AMR_AF,COL4A4
466494,2:227907880:C>G,NM_000092.4:c.3310G>C,NP_000083.3:p.Glu1104Gln,36/48,\N,Unknown significance,\N,missense_variant,18.61,\N,\N,COL4A4
466495,2:227907882:C>G,NM_000092.4:c.3308G>C,NP_000083.3:p.Gly1103Ala,36/48,\N,Unknown significance,\N,missense_variant,22.9,0.000116604,EXAC_EAS_AF,COL4A4
466496,2:227907883:C>T,NM_000092.4:c.3307G>A,NP_000083.3:p.Gly1103Arg,36/48,\N,Pathogenic,Alport syndrome,missense_variant,24.8,0.0000761081,EXAC_NFE_AF,COL4A4
466497,2:227907884:G>A,NM_000092.4:c.3306C>T,NP_000083.3:p.Ser1102=,36/48,\N,Unknown significance,\N,synonymous_variant,8.443,0.0008,1KG_AFR_AF,COL4A4
466498,2:227907884:G>C,NM_000092.4:c.3306C>G,NP_000083.3:p.Ser1102=,36/48,\N,Unknown significance,\N,synonymous_variant,5.864,0.000167428,EXAC_NFE_AF,COL4A4
466499,2:227907905:A>G,NM_000092.4:c.3290-5T>C,\N,\N,35/47,Unknown significance,\N,splice_region_variant&intron_variant,3.453,0.0000875503,EXAC_AMR_AF,COL4A4
466500,2:227907916:T>C,NM_000092.4:c.3290-16A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,3.444,0.000121625,EVS_EA_AF,COL4A4
466501,2:227907917:C>T,NM_000092.4:c.3290-17G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,4.464,\N,\N,COL4A4
466502,2:227907926:G>C,NM_000092.4:c.3290-26C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,1.256,0.000108507,EXAC_AFR_AF,COL4A4
466503,2:227907931:G>A,NM_000092.4:c.3290-31C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,5.306,0.001,1KG_SAS_AF,COL4A4
466504,2:227907933:C>T,NM_000092.4:c.3290-33G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,3.283,0.0000618353,EXAC_SAS_AF,COL4A4
466505,2:227907934:G>A,NM_000092.4:c.3290-34C>T,\N,\N,35/47,Benign,\N,intron_variant,1.053,0.0212,1KG_AFR_AF,COL4A4
466506,2:227907942:C>T,NM_000092.4:c.3290-42G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,2.469,\N,\N,COL4A4
466507,2:227907944:G>C,NM_000092.4:c.3290-44C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.284,\N,\N,COL4A4
466508,2:227908038:G>T,NM_000092.4:c.3290-138C>A,\N,\N,35/47,Benign,\N,intron_variant,0.307,0.028,1KG_AFR_AF,COL4A4
466509,2:227908113:C>T,NM_000092.4:c.3290-213G>A,\N,\N,35/47,Benign,\N,intron_variant,3.982,0.005,1KG_EAS_AF,COL4A4
466510,2:227908136:T>C,NM_000092.4:c.3290-236A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,3.324,0.0008,1KG_AFR_AF,COL4A4
466511,2:227908139:T>G,NM_000092.4:c.3290-239A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.752,0.002,1KG_SAS_AF,COL4A4
466512,2:227908141:G>C,NM_000092.4:c.3290-241C>G,\N,\N,35/47,Benign,\N,intron_variant,0.127,0.0212,1KG_AFR_AF,COL4A4
466513,2:227908189:G>A,NM_000092.4:c.3290-289C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,4.799,0.001,1KG_EUR_AF,COL4A4
466514,2:227908193:T>G,NM_000092.4:c.3290-293A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,7.166,\N,\N,COL4A4
466515,2:227908202:A>G,NM_000092.4:c.3290-302T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,6.595,\N,\N,COL4A4
466516,2:227908211:A>T,NM_000092.4:c.3290-311T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.448,\N,\N,COL4A4
466517,2:227908213:A>G,NM_000092.4:c.3290-313T>C,\N,\N,35/47,Benign,\N,intron_variant,2.348,0.0212,1KG_AFR_AF,COL4A4
466518,2:227908225:T>A,NM_000092.4:c.3290-325A>T,\N,\N,35/47,Unknown significance,\N,intron_variant,5.039,0.001,1KG_SAS_AF,COL4A4
466519,2:227908228:C>G,NM_000092.4:c.3290-328G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.751,\N,\N,COL4A4
466520,2:227908268:A>C,NM_000092.4:c.3290-368T>G,\N,\N,35/47,Benign,\N,intron_variant,1.829,0.0212,1KG_AFR_AF,COL4A4
466521,2:227908279:G>A,NM_000092.4:c.3290-379C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.285,\N,\N,COL4A4
466522,2:227908283:A>G,NM_000092.4:c.3290-383T>C,\N,\N,35/47,Benign,\N,intron_variant,1.756,0.0212,1KG_AFR_AF,COL4A4
466523,2:227908314:A>G,NM_000092.4:c.3290-414T>C,\N,\N,35/47,Benign,\N,intron_variant,3.912,0.0159,1KG_EAS_AF,COL4A4
466524,2:227908322:C>T,NM_000092.4:c.3290-422G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,3.329,0.0008,1KG_AFR_AF,COL4A4
466525,2:227908329:T>A,NM_000092.4:c.3290-429A>T,\N,\N,35/47,Unknown significance,\N,intron_variant,5.299,0.001,1KG_SAS_AF,COL4A4
466526,2:227908384:G>A,NM_000092.4:c.3290-484C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,5.448,\N,\N,COL4A4
466527,2:227908469:C>A,NM_000092.4:c.3290-569G>T,\N,\N,35/47,Benign,\N,intron_variant,3.287,0.0537,1KG_AFR_AF,COL4A4
466528,2:227908469:CG>AA,NM_000092.4:c.3290-570_3290-569delinsTT,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466529,2:227908470:G>A,NM_000092.4:c.3290-570C>T,\N,\N,35/47,Benign,\N,intron_variant,0.83,0.0537,1KG_AFR_AF,COL4A4
466530,2:227908486:CCT>C,NM_000092.4:c.3290-588_3290-587del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466531,2:227908492:T>C,NM_000092.4:c.3290-592A>G,\N,\N,35/47,Benign,\N,intron_variant,8.661,0.0212,1KG_AFR_AF,COL4A4
466532,2:227908527:G>A,NM_000092.4:c.3290-627C>T,\N,\N,35/47,Benign,\N,intron_variant,1.28,0.635,1KG_SAS_AF,COL4A4
466533,2:227908533:C>G,NM_000092.4:c.3290-633G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.758,\N,\N,COL4A4
466534,2:227908535:A>G,NM_000092.4:c.3290-635T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.532,0.0014,1KG_AMR_AF,COL4A4
466535,2:227908556:G>A,NM_000092.4:c.3290-656C>T,\N,\N,35/47,Benign,\N,intron_variant,2.207,0.1059,1KG_AFR_AF,COL4A4
466536,2:227908580:T>G,NM_000092.4:c.3290-680A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,6.753,\N,\N,COL4A4
466537,2:227908616:C>T,NM_000092.4:c.3290-716G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.277,\N,\N,COL4A4
466538,2:227908618:C>A,NM_000092.4:c.3290-718G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,4.39,\N,\N,COL4A4
466539,2:227908665:C>T,NM_000092.4:c.3290-765G>A,\N,\N,35/47,Benign,\N,intron_variant,0.152,0.635,1KG_SAS_AF,COL4A4
466540,2:227908670:C>G,NM_000092.4:c.3290-770G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.445,0.0008,1KG_AFR_AF,COL4A4
466541,2:227908722:A>C,NM_000092.4:c.3290-822T>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.386,\N,\N,COL4A4
466542,2:227908750:G>A,NM_000092.4:c.3290-850C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.193,\N,\N,COL4A4
466543,2:227908777:T>A,NM_000092.4:c.3290-877A>T,\N,\N,35/47,Benign,\N,intron_variant,10.51,0.0212,1KG_AFR_AF,COL4A4
466544,2:227908777:TC>AG,NM_000092.4:c.3290-878_3290-877delinsCT,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466545,2:227908778:C>G,NM_000092.4:c.3290-878G>C,\N,\N,35/47,Benign,\N,intron_variant,7.818,0.0212,1KG_AFR_AF,COL4A4
466546,2:227908790:T>G,NM_000092.4:c.3290-890A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,9.028,0.001,1KG_EAS_AF,COL4A4
466547,2:227908794:G>A,NM_000092.4:c.3290-894C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,1.568,0.001,1KG_EAS_AF,COL4A4
466548,2:227908803:A>G,NM_000092.4:c.3290-903T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,6.813,0.0008,1KG_AFR_AF,COL4A4
466549,2:227908804:T>C,NM_000092.4:c.3290-904A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,5.189,0.0014,1KG_AMR_AF,COL4A4
466550,2:227908833:CA>C,NM_000092.4:c.3290-934del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466551,2:227908834:A>T,NM_000092.4:c.3290-934T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,3.505,\N,\N,COL4A4
466552,2:227908892:T>C,NM_000092.4:c.3290-992A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,10.67,\N,\N,COL4A4
466553,2:227908906:G>A,NM_000092.4:c.3290-1006C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,11.89,0.0015,1KG_AFR_AF,COL4A4
466554,2:227908913:T>C,NM_000092.4:c.3290-1013A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,13.64,\N,\N,COL4A4
466555,2:227908933:T>G,NM_000092.4:c.3290-1033A>C,\N,\N,35/47,Benign,\N,intron_variant,2.612,0.0212,1KG_AFR_AF,COL4A4
466556,2:227908951:T>C,NM_000092.4:c.3290-1051A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,6.563,0.002,1KG_SAS_AF,COL4A4
466557,2:227909064:C>T,NM_000092.4:c.3290-1164G>A,\N,\N,35/47,Benign,\N,intron_variant,2.99,0.0219,1KG_AFR_AF,COL4A4
466558,2:227909133:C>T,NM_000092.4:c.3290-1233G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,5.188,\N,\N,COL4A4
466559,2:227909155:G>A,NM_000092.4:c.3290-1255C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.774,0.001,1KG_SAS_AF,COL4A4
466560,2:227909166:T>A,NM_000092.4:c.3290-1266A>T,\N,\N,35/47,Unknown significance,\N,intron_variant,6.846,0.002,1KG_EUR_AF,COL4A4
466561,2:227909220:C>A,NM_000092.4:c.3290-1320G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.797,0.0008,1KG_AFR_AF,COL4A4
466562,2:227909236:A>G,NM_000092.4:c.3290-1336T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.57,0.0015,1KG_AFR_AF,COL4A4
466563,2:227909273:G>C,NM_000092.4:c.3290-1373C>G,\N,\N,35/47,Benign,\N,intron_variant,0.993,0.0068,1KG_AFR_AF,COL4A4
466564,2:227909333:T>A,NM_000092.4:c.3290-1433A>T,\N,\N,35/47,Unknown significance,\N,intron_variant,4.912,\N,\N,COL4A4
466565,2:227909333:T>TA,NM_000092.4:c.3290-1434dup,\N,\N,35/47,Benign,\N,intron_variant,1.013,0.6422,1KG_AFR_AF,COL4A4
466566,2:227909333:T>TAA,NM_000092.4:c.3290-1435_3290-1434dup,\N,\N,35/47,Unknown significance,\N,intron_variant,0.936,\N,\N,COL4A4
466567,2:227909338:AT>A,NM_000092.4:c.3290-1439del,\N,\N,35/47,Unknown significance,\N,intron_variant,0.465,\N,\N,COL4A4
466568,2:227909339:T>A,NM_000092.4:c.3290-1439A>T,\N,\N,35/47,Benign,\N,intron_variant,2.739,0.6989,1KG_AFR_AF,COL4A4
466569,2:227909339:T>TA,NM_000092.4:c.3290-1440dup,\N,\N,35/47,Unknown significance,\N,intron_variant,1.251,\N,\N,COL4A4
466570,2:227909339:T>TAA,NM_000092.4:c.3290-1441_3290-1440dup,\N,\N,35/47,Unknown significance,\N,intron_variant,1.16,\N,\N,COL4A4
466571,2:227909352:C>A,NM_000092.4:c.3290-1452G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,1.892,\N,\N,COL4A4
466572,2:227909354:T>G,NM_000092.4:c.3290-1454A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.244,\N,\N,COL4A4
466573,2:227909362:G>A,NM_000092.4:c.3290-1462C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.504,0.0008,1KG_AFR_AF,COL4A4
466574,2:227909382:G>A,NM_000092.4:c.3290-1482C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,9.341,\N,\N,COL4A4
466575,2:227909401:C>T,NM_000092.4:c.3290-1501G>A,\N,\N,35/47,Benign,\N,intron_variant,1.599,0.0356,1KG_AFR_AF,COL4A4
466576,2:227909408:T>C,NM_000092.4:c.3290-1508A>G,\N,\N,35/47,Benign,\N,intron_variant,1.695,0.005,1KG_EAS_AF,COL4A4
466577,2:227909415:T>A,NM_000092.4:c.3290-1515A>T,\N,\N,35/47,Benign,\N,intron_variant,4.314,0.0287,1KG_AFR_AF,COL4A4
466578,2:227909451:G>A,NM_000092.4:c.3290-1551C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,1.699,0.002,1KG_SAS_AF,COL4A4
466579,2:227909464:TA>T,NM_000092.4:c.3290-1565del,\N,\N,35/47,Benign,\N,intron_variant,7.698,0.0552,1KG_AFR_AF,COL4A4
466580,2:227909480:T>C,NM_000092.4:c.3290-1580A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,2.308,\N,\N,COL4A4
466581,2:227909491:G>A,NM_000092.4:c.3290-1591C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,4.331,\N,\N,COL4A4
466582,2:227909522:A>C,NM_000092.4:c.3290-1622T>G,\N,\N,35/47,Benign,\N,intron_variant,3.009,0.637,1KG_SAS_AF,COL4A4
466583,2:227909526:C>T,NM_000092.4:c.3290-1626G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,2.705,0.003,1KG_EUR_AF,COL4A4
466584,2:227909537:A>G,NM_000092.4:c.3290-1637T>C,\N,\N,35/47,Benign,\N,intron_variant,2.718,0.0136,1KG_AFR_AF,COL4A4
466585,2:227909552:T>C,NM_000092.4:c.3290-1652A>G,\N,\N,35/47,Benign,\N,intron_variant,3.384,0.637,1KG_SAS_AF,COL4A4
466586,2:227909571:G>C,NM_000092.4:c.3290-1671C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.3,0.001,1KG_SAS_AF,COL4A4
466587,2:227909618:C>T,NM_000092.4:c.3290-1718G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,9.127,\N,\N,COL4A4
466588,2:227909658:G>A,NM_000092.4:c.3290-1758C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.164,0.002,1KG_EUR_AF,COL4A4
466589,2:227909682:C>A,NM_000092.4:c.3290-1782G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.772,0.0038,1KG_AFR_AF,COL4A4
466590,2:227909778:C>T,NM_000092.4:c.3290-1878G>A,\N,\N,35/47,Benign,\N,intron_variant,12.54,0.0174,1KG_AFR_AF,COL4A4
466591,2:227909809:TG>T,NM_000092.4:c.3290-1910del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466592,2:227909839:G>A,NM_000092.4:c.3290-1939C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,1.812,0.001,1KG_EUR_AF,COL4A4
466593,2:227909868:A>G,NM_000092.4:c.3290-1968T>C,\N,\N,35/47,Benign,\N,intron_variant,0.611,0.2511,1KG_AFR_AF,COL4A4
466594,2:227909883:A>G,NM_000092.4:c.3290-1983T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.529,0.004,1KG_EAS_AF,COL4A4
466595,2:227909957:A>G,NM_000092.4:c.3290-2057T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.711,0.0023,1KG_AFR_AF,COL4A4
466596,2:227909972:T>C,NM_000092.4:c.3290-2072A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.197,\N,\N,COL4A4
466597,2:227909979:A>G,NM_000092.4:c.3290-2079T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.361,\N,\N,COL4A4
466598,2:227909980:G>A,NM_000092.4:c.3290-2080C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.575,\N,\N,COL4A4
466599,2:227909988:G>A,NM_000092.4:c.3290-2088C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.495,\N,\N,COL4A4
466600,2:227909990:G>A,NM_000092.4:c.3290-2090C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.119,\N,\N,COL4A4
466601,2:227910000:C>G,NM_000092.4:c.3290-2100G>C,\N,\N,35/47,Benign,\N,intron_variant,0.313,0.0164,1KG_SAS_AF,COL4A4
466602,2:227910000:C>T,NM_000092.4:c.3290-2100G>A,\N,\N,35/47,Benign,\N,intron_variant,0.769,0.0219,1KG_AFR_AF,COL4A4
466603,2:227910006:G>T,NM_000092.4:c.3290-2106C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.47,0.002,1KG_EAS_AF,COL4A4
466604,2:227910015:C>G,NM_000092.4:c.3290-2115G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.052,0.0008,1KG_AFR_AF,COL4A4
466605,2:227910105:ATT>A,NM_000092.4:c.3289+2084_3289+2085del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466606,2:227910106:T>C,NM_000092.4:c.3289+2085A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.526,0.001,1KG_EAS_AF,COL4A4
466607,2:227910135:C>T,NM_000092.4:c.3289+2056G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,9.405,\N,\N,COL4A4
466608,2:227910168:G>A,NM_000092.4:c.3289+2023C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.911,0.0038,1KG_AFR_AF,COL4A4
466609,2:227910171:A>G,NM_000092.4:c.3289+2020T>C,\N,\N,35/47,Benign,\N,intron_variant,3.369,0.4908,1KG_SAS_AF,COL4A4
466610,2:227910190:T>C,NM_000092.4:c.3289+2001A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,2.592,\N,\N,COL4A4
466611,2:227910197:A>ATG,NM_000092.4:c.3289+1992_3289+1993dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466612,2:227910197:ATG>A,NM_000092.4:c.3289+1992_3289+1993del,\N,\N,35/47,Benign,\N,intron_variant,2.505,0.637,1KG_SAS_AF,COL4A4
466613,2:227910197:ATGT>A,NM_000092.4:c.3289+1991_3289+1993del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466614,2:227910198:T>C,NM_000092.4:c.3289+1993A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.862,\N,\N,COL4A4
466615,2:227910198:TGT>C,NM_000092.4:c.3289+1991_3289+1993delinsG,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466616,2:227910199:G>C,NM_000092.4:c.3289+1992C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.118,\N,\N,COL4A4
466617,2:227910199:GTC>G,NM_000092.4:c.3289+1990_3289+1991del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466618,2:227910200:T>C,NM_000092.4:c.3289+1991A>G,\N,\N,35/47,Benign,\N,intron_variant,0.271,0.637,1KG_SAS_AF,COL4A4
466619,2:227910251:C>T,NM_000092.4:c.3289+1940G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.536,\N,\N,COL4A4
466620,2:227910261:A>G,NM_000092.4:c.3289+1930T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.813,0.0008,1KG_AFR_AF,COL4A4
466621,2:227910290:A>G,NM_000092.4:c.3289+1901T>C,\N,\N,35/47,Benign,\N,intron_variant,2.004,0.0212,1KG_AFR_AF,COL4A4
466622,2:227910319:C>G,NM_000092.4:c.3289+1872G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.055,0.001,1KG_EUR_AF,COL4A4
466623,2:227910322:C>A,NM_000092.4:c.3289+1869G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.537,0.002,1KG_EAS_AF,COL4A4
466624,2:227910397:A>G,NM_000092.4:c.3289+1794T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.334,\N,\N,COL4A4
466625,2:227910406:A>T,NM_000092.4:c.3289+1785T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.775,\N,\N,COL4A4
466626,2:227910461:G>A,NM_000092.4:c.3289+1730C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.274,0.0014,1KG_AMR_AF,COL4A4
466627,2:227910470:G>C,NM_000092.4:c.3289+1721C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.202,0.003,1KG_EUR_AF,COL4A4
466628,2:227910484:CA>C,NM_000092.4:c.3289+1706del,\N,\N,35/47,Unknown significance,\N,intron_variant,2.685,\N,\N,COL4A4
466629,2:227910499:CAT>C,NM_000092.4:c.3289+1690_3289+1691del,\N,\N,35/47,Unknown significance,\N,intron_variant,3.744,\N,\N,COL4A4
466630,2:227910503:TATATATATATACAC>T,NM_000092.4:c.3289+1674_3289+1687del,\N,\N,35/47,Unknown significance,\N,intron_variant,2.901,\N,\N,COL4A4
466631,2:227910513:TACAC>T,NM_000092.4:c.3289+1674_3289+1677del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466632,2:227910517:CATATAT>C,NM_000092.4:c.3289+1668_3289+1673del,\N,\N,35/47,Unknown significance,\N,intron_variant,3.718,\N,\N,COL4A4
466633,2:227910521:T>C,NM_000092.4:c.3289+1670A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.508,\N,\N,COL4A4
466634,2:227910523:T>C,NM_000092.4:c.3289+1668A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.501,\N,\N,COL4A4
466635,2:227910526:A>G,NM_000092.4:c.3289+1665T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.426,\N,\N,COL4A4
466636,2:227910527:T>C,NM_000092.4:c.3289+1664A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.492,\N,\N,COL4A4
466637,2:227910542:A>G,NM_000092.4:c.3289+1649T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.605,\N,\N,COL4A4
466638,2:227910547:TACAC>T,NM_000092.4:c.3289+1640_3289+1643del,\N,\N,35/47,Unknown significance,\N,intron_variant,5.068,\N,\N,COL4A4
466639,2:227910553:C>T,NM_000092.4:c.3289+1638G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,2.729,\N,\N,COL4A4
466640,2:227910553:CAT>C,NM_000092.4:c.3289+1636_3289+1637del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466641,2:227910555:T>C,NM_000092.4:c.3289+1636A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,1.64,\N,\N,COL4A4
466642,2:227910565:C>G,NM_000092.4:c.3289+1626G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.206,\N,\N,COL4A4
466643,2:227910565:C>T,NM_000092.4:c.3289+1626G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,2.046,\N,\N,COL4A4
466644,2:227910572:A>G,NM_000092.4:c.3289+1619T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.5,\N,\N,COL4A4
466645,2:227910574:A>G,NM_000092.4:c.3289+1617T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.5,\N,\N,COL4A4
466646,2:227910578:A>G,NM_000092.4:c.3289+1613T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.255,\N,\N,COL4A4
466647,2:227910588:A>G,NM_000092.4:c.3289+1603T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.494,\N,\N,COL4A4
466648,2:227910589:T>TAC,NM_000092.4:c.3289+1600_3289+1601dup,\N,\N,35/47,Unknown significance,\N,intron_variant,1.053,\N,\N,COL4A4
466649,2:227910594:A>T,NM_000092.4:c.3289+1597T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.502,\N,\N,COL4A4
466650,2:227910598:A>ATG,NM_000092.4:c.3289+1591_3289+1592dup,\N,\N,35/47,Benign,\N,intron_variant,0.131,0.0098,1KG_AFR_AF,COL4A4
466651,2:227910600:G>A,NM_000092.4:c.3289+1591C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.35,\N,\N,COL4A4
466652,2:227910602:A>ATG,NM_000092.4:c.3289+1588_3289+1589insCA,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466653,2:227910606:A>G,NM_000092.4:c.3289+1585T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.486,\N,\N,COL4A4
466654,2:227910610:T>G,NM_000092.4:c.3289+1581A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.537,\N,\N,COL4A4
466655,2:227910610:T>TTAGA,NM_000092.4:c.3289+1577_3289+1580dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466656,2:227910616:A>AG,NM_000092.4:c.3289+1574dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466657,2:227910617:G>GT,NM_000092.4:c.3289+1573dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466658,2:227910617:G>T,NM_000092.4:c.3289+1574C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.623,\N,\N,COL4A4
466659,2:227910625:AT>A,NM_000092.4:c.3289+1565del,\N,\N,35/47,Benign,\N,intron_variant,1.902,0.4847,1KG_SAS_AF,COL4A4
466660,2:227910631:G>A,NM_000092.4:c.3289+1560C>T,\N,\N,35/47,Benign,\N,intron_variant,2.329,0.6339,1KG_SAS_AF,COL4A4
466661,2:227910637:GTATATGTA>G,NM_000092.4:c.3289+1546_3289+1553del,\N,\N,35/47,Unknown significance,\N,intron_variant,4.919,\N,\N,COL4A4
466662,2:227910643:G>GTA,NM_000092.4:c.3289+1546_3289+1547dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466663,2:227910657:A>ATT,NM_000092.4:c.3289+1533_3289+1534insAA,\N,\N,35/47,Unknown significance,\N,intron_variant,0.127,\N,\N,COL4A4
466664,2:227910658:T>C,NM_000092.4:c.3289+1533A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,1.296,\N,\N,COL4A4
466665,2:227910659:G>A,NM_000092.4:c.3289+1532C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.305,\N,\N,COL4A4
466666,2:227910659:G>GTA,NM_000092.4:c.3289+1530_3289+1531dup,\N,\N,35/47,Unknown significance,\N,intron_variant,0.534,\N,\N,COL4A4
466667,2:227910659:G>T,NM_000092.4:c.3289+1532C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.484,\N,\N,COL4A4
466668,2:227910667:G>T,NM_000092.4:c.3289+1524C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.481,\N,\N,COL4A4
466669,2:227910679:ATATT>A,NM_000092.4:c.3289+1508_3289+1511del,\N,\N,35/47,Unknown significance,\N,intron_variant,6.366,\N,\N,COL4A4
466670,2:227910681:ATT>A,NM_000092.4:c.3289+1508_3289+1509del,\N,\N,35/47,Unknown significance,\N,intron_variant,0.841,\N,\N,COL4A4
466671,2:227910687:ATGTG>A,NM_000092.4:c.3289+1500_3289+1503del,\N,\N,35/47,Unknown significance,\N,intron_variant,2.683,\N,\N,COL4A4
466672,2:227910705:T>G,NM_000092.4:c.3289+1486A>C,\N,\N,35/47,Benign,\N,intron_variant,3.491,0.637,1KG_SAS_AF,COL4A4
466673,2:227910708:G>T,NM_000092.4:c.3289+1483C>A,\N,\N,35/47,Benign,\N,intron_variant,0.65,0.637,1KG_SAS_AF,COL4A4
466674,2:227910708:GATATTTAGAT>G,NM_000092.4:c.3289+1473_3289+1482del,\N,\N,35/47,Unknown significance,\N,intron_variant,5.316,\N,\N,COL4A4
466675,2:227910759:C>CATATATACTATCTAAATATATATACGT,NM_000092.4:c.3289+1431_3289+1432insACGTATATATATTTAGATAGTATATAT,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466676,2:227910759:C>CGT,NM_000092.4:c.3289+1431_3289+1432insAC,\N,\N,35/47,Benign,\N,intron_variant,0.747,0.2157,1KG_SAS_AF,COL4A4
466677,2:227910776:C>T,NM_000092.4:c.3289+1415G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.818,\N,\N,COL4A4
466678,2:227910780:T>C,NM_000092.4:c.3289+1411A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.417,\N,\N,COL4A4
466679,2:227910785:A>G,NM_000092.4:c.3289+1406T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.366,\N,\N,COL4A4
466680,2:227910793:A>G,NM_000092.4:c.3289+1398T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.671,0.0014,1KG_AMR_AF,COL4A4
466681,2:227910797:A>T,NM_000092.4:c.3289+1394T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.703,0.0045,1KG_AFR_AF,COL4A4
466682,2:227910805:ATG>A,NM_000092.4:c.3289+1384_3289+1385del,\N,\N,35/47,Unknown significance,\N,intron_variant,2.028,\N,\N,COL4A4
466683,2:227910807:G>A,NM_000092.4:c.3289+1384C>T,\N,\N,35/47,Benign,\N,intron_variant,1.043,0.637,1KG_SAS_AF,COL4A4
466684,2:227910809:A>G,NM_000092.4:c.3289+1382T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.136,0.0008,1KG_AFR_AF,COL4A4
466685,2:227910810:CAT>C,NM_000092.4:c.3289+1379_3289+1380del,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466686,2:227911016:T>G,NM_000092.4:c.3289+1175A>C,\N,\N,35/47,Unknown significance,\N,intron_variant,11.77,0.001,1KG_EUR_AF,COL4A4
466687,2:227911021:C>T,NM_000092.4:c.3289+1170G>A,\N,\N,35/47,Benign,\N,intron_variant,10.57,0.0998,1KG_AFR_AF,COL4A4
466688,2:227911037:T>G,NM_000092.4:c.3289+1154A>C,\N,\N,35/47,Benign,\N,intron_variant,14.1,0.637,1KG_SAS_AF,COL4A4
466689,2:227911069:T>TA,NM_000092.4:c.3289+1121dup,\N,\N,35/47,Benign,\N,intron_variant,5.086,0.637,1KG_SAS_AF,COL4A4
466690,2:227911075:G>A,NM_000092.4:c.3289+1116C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.18,0.0023,1KG_AFR_AF,COL4A4
466691,2:227911094:A>C,NM_000092.4:c.3289+1097T>G,\N,\N,35/47,Benign,\N,intron_variant,1.324,0.0072,1KG_SAS_AF,COL4A4
466692,2:227911162:T>C,NM_000092.4:c.3289+1029A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.676,\N,\N,COL4A4
466693,2:227911224:C>T,NM_000092.4:c.3289+967G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,6.248,0.002,1KG_EUR_AF,COL4A4
466694,2:227911269:A>G,NM_000092.4:c.3289+922T>C,\N,\N,35/47,Benign,\N,intron_variant,3.511,0.637,1KG_SAS_AF,COL4A4
466695,2:227911289:G>A,NM_000092.4:c.3289+902C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,3.042,\N,\N,COL4A4
466696,2:227911294:G>T,NM_000092.4:c.3289+897C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.725,\N,\N,COL4A4
466697,2:227911305:A>G,NM_000092.4:c.3289+886T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.251,0.0008,1KG_AFR_AF,COL4A4
466698,2:227911307:A>G,NM_000092.4:c.3289+884T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.952,\N,\N,COL4A4
466699,2:227911379:T>C,NM_000092.4:c.3289+812A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,1.088,0.001,1KG_EAS_AF,COL4A4
466700,2:227911382:A>G,NM_000092.4:c.3289+809T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.874,0.0014,1KG_AMR_AF,COL4A4
466701,2:227911398:G>A,NM_000092.4:c.3289+793C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.944,\N,\N,COL4A4
466702,2:227911400:A>G,NM_000092.4:c.3289+791T>C,\N,\N,35/47,Benign,\N,intron_variant,3.748,0.637,1KG_SAS_AF,COL4A4
466703,2:227911432:G>A,NM_000092.4:c.3289+759C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.798,0.001,1KG_EUR_AF,COL4A4
466704,2:227911447:G>A,NM_000092.4:c.3289+744C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.424,\N,\N,COL4A4
466705,2:227911478:T>C,NM_000092.4:c.3289+713A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.886,0.0038,1KG_AFR_AF,COL4A4
466706,2:227911479:A>G,NM_000092.4:c.3289+712T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,1.912,0.0031,1KG_SAS_AF,COL4A4
466707,2:227911487:G>T,NM_000092.4:c.3289+704C>A,\N,\N,35/47,Benign,\N,intron_variant,1.091,0.1316,1KG_AFR_AF,COL4A4
466708,2:227911512:C>G,NM_000092.4:c.3289+679G>C,\N,\N,35/47,Unknown significance,\N,intron_variant,0.663,0.0008,1KG_AFR_AF,COL4A4
466709,2:227911566:A>T,NM_000092.4:c.3289+625T>A,\N,\N,35/47,Benign,\N,intron_variant,6.57,0.1672,1KG_AFR_AF,COL4A4
466710,2:227911571:A>G,NM_000092.4:c.3289+620T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,5.443,\N,\N,COL4A4
466711,2:227911603:A>G,NM_000092.4:c.3289+588T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.297,\N,\N,COL4A4
466712,2:227911604:T>C,NM_000092.4:c.3289+587A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,0.289,0.0008,1KG_AFR_AF,COL4A4
466713,2:227911629:A>T,NM_000092.4:c.3289+562T>A,\N,\N,35/47,Benign,\N,intron_variant,0.304,0.0356,1KG_AFR_AF,COL4A4
466714,2:227911653:T>A,NM_000092.4:c.3289+538A>T,\N,\N,35/47,Unknown significance,\N,intron_variant,6.387,0.001,1KG_EAS_AF,COL4A4
466715,2:227911661:G>A,NM_000092.4:c.3289+530C>T,\N,\N,35/47,Benign,\N,intron_variant,12.87,0.1895,1KG_EAS_AF,COL4A4
466716,2:227911683:G>A,NM_000092.4:c.3289+508C>T,\N,\N,35/47,Benign,\N,intron_variant,3.206,0.0287,1KG_AFR_AF,COL4A4
466717,2:227911725:G>A,NM_000092.4:c.3289+466C>T,\N,\N,35/47,Benign,\N,intron_variant,2.205,0.8759,1KG_AFR_AF,COL4A4
466718,2:227911734:A>G,NM_000092.4:c.3289+457T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.507,\N,\N,COL4A4
466719,2:227911736:G>A,NM_000092.4:c.3289+455C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.015,0.0041,1KG_SAS_AF,COL4A4
466720,2:227911738:C>T,NM_000092.4:c.3289+453G>A,\N,\N,35/47,Benign,\N,intron_variant,0.796,0.0199,1KG_EUR_AF,COL4A4
466721,2:227911739:G>A,NM_000092.4:c.3289+452C>T,\N,\N,35/47,Benign,\N,intron_variant,0.468,0.0628,1KG_AFR_AF,COL4A4
466722,2:227911740:C>T,NM_000092.4:c.3289+451G>A,\N,\N,35/47,Benign,\N,intron_variant,1.497,0.0089,1KG_EUR_AF,COL4A4
466723,2:227911792:A>G,NM_000092.4:c.3289+399T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,10.05,\N,\N,COL4A4
466724,2:227911811:A>T,NM_000092.4:c.3289+380T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.522,0.0008,1KG_AFR_AF,COL4A4
466725,2:227911829:G>A,NM_000092.4:c.3289+362C>T,\N,\N,35/47,Benign,\N,intron_variant,0.085,0.0287,1KG_AFR_AF,COL4A4
466726,2:227911838:A>G,NM_000092.4:c.3289+353T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,2.793,0.0043,1KG_AMR_AF,COL4A4
466727,2:227911839:T>C,NM_000092.4:c.3289+352A>G,\N,\N,35/47,Benign,\N,intron_variant,2.458,0.0194,1KG_SAS_AF,COL4A4
466728,2:227911849:T>C,NM_000092.4:c.3289+342A>G,\N,\N,35/47,Benign,\N,intron_variant,3.537,0.0189,1KG_EUR_AF,COL4A4
466729,2:227911850:A>G,NM_000092.4:c.3289+341T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,3.312,0.001,1KG_SAS_AF,COL4A4
466730,2:227911868:C>T,NM_000092.4:c.3289+323G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,1.906,\N,\N,COL4A4
466731,2:227911872:T>C,NM_000092.4:c.3289+319A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,2.912,\N,\N,COL4A4
466732,2:227911881:T>C,NM_000092.4:c.3289+310A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,1.21,0.001,1KG_SAS_AF,COL4A4
466733,2:227911918:C>T,NM_000092.4:c.3289+273G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,6.781,0.001,1KG_SAS_AF,COL4A4
466734,2:227911922:C>T,NM_000092.4:c.3289+269G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,7.858,\N,\N,COL4A4
466735,2:227911980:G>A,NM_000092.4:c.3289+211C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,2.849,0.001,1KG_EAS_AF,COL4A4
466736,2:227911998:T>C,NM_000092.4:c.3289+193A>G,\N,\N,35/47,Unknown significance,\N,intron_variant,5.267,\N,\N,COL4A4
466737,2:227912034:G>A,NM_000092.4:c.3289+157C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,6.015,\N,\N,COL4A4
466738,2:227912060:G>A,NM_000092.4:c.3289+131C>T,\N,\N,35/47,Unknown significance,\N,intron_variant,0.287,0.0014,1KG_AMR_AF,COL4A4
466739,2:227912073:C>T,NM_000092.4:c.3289+118G>A,\N,\N,35/47,Unknown significance,\N,intron_variant,3.634,\N,\N,COL4A4
466740,2:227912088:G>T,NM_000092.4:c.3289+103C>A,\N,\N,35/47,Unknown significance,\N,intron_variant,0.788,0.001,1KG_SAS_AF,COL4A4
466741,2:227912107:G>A,NM_000092.4:c.3289+84C>T,\N,\N,35/47,Benign,\N,intron_variant,2.042,0.0079,1KG_EAS_AF,COL4A4
466742,2:227912142:C>A,NM_000092.4:c.3289+49G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,9.887,\N,\N,COL4A4
466743,2:227912151:C>A,NM_000092.4:c.3289+40G>T,\N,\N,35/47,Unknown significance,\N,intron_variant,6.366,0.000122399,EVS_EA_AF,COL4A4
466744,2:227912153:A>C,NM_000092.4:c.3289+38T>G,\N,\N,35/47,Unknown significance,\N,intron_variant,2.054,0.000134012,EXAC_EAS_AF,COL4A4
466745,2:227912154:C>CT,NM_000092.4:c.3289+36dup,\N,\N,35/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466746,2:227912154:CT>C,NM_000092.4:c.3289+36del,\N,\N,35/47,Unknown significance,\N,intron_variant,2.299,\N,\N,COL4A4
466747,2:227912167:A>T,NM_000092.4:c.3289+24T>A,\N,\N,35/47,Unknown significance,\N,intron_variant,8.785,0.0000324886,EXAC_NFE_AF,COL4A4
466748,2:227912168:G>C,NM_000092.4:c.3289+23C>G,\N,\N,35/47,Unknown significance,\N,intron_variant,5.594,0.0000161807,EXAC_NFE_AF,COL4A4
466749,2:227912170:A>G,NM_000092.4:c.3289+21T>C,\N,\N,35/47,Unknown significance,\N,intron_variant,8.956,0.001,1KG_EUR_AF,COL4A4
466750,2:227912185:C>G,NM_000092.4:c.3289+6G>C,\N,\N,35/47,Unknown significance,\N,splice_region_variant&intron_variant,9.669,0.0000153808,EXAC_NFE_AF,COL4A4
466751,2:227912190:C>T,NM_000092.4:c.3289+1G>A,\N,\N,35/47,Pathogenic,Benign haematuria,splice_donor_variant,26.3,\N,\N,COL4A4
466752,2:227912210:T>G,NM_000092.4:c.3270A>C,NP_000083.3:p.Pro1090=,35/48,\N,Unknown significance,\N,synonymous_variant,9.813,0.0000887311,EXAC_AMR_AF,COL4A4
466753,2:227912220:T>G,NM_000092.4:c.3260A>C,NP_000083.3:p.Lys1087Thr,35/48,\N,Unknown significance,\N,missense_variant,23.6,0.000116442,EXAC_EAS_AF,COL4A4
466754,2:227912245:T>C,NM_000092.4:c.3235A>G,NP_000083.3:p.Ser1079Gly,35/48,\N,Likely benign,\N,missense_variant,17.14,0.0000304062,EXAC_NFE_AF,COL4A4
466755,2:227912247:G>A,NM_000092.4:c.3233C>T,NP_000083.3:p.Ala1078Val,35/48,\N,Benign,\N,missense_variant,23.6,0.0567,1KG_AFR_AF,COL4A4
466756,2:227912248:C>T,NM_000092.4:c.3232G>A,NP_000083.3:p.Ala1078Thr,35/48,\N,Benign,\N,missense_variant,23.6,0.0212,1KG_AFR_AF,COL4A4
466757,2:227912253:T>G,NM_000092.4:c.3227A>C,NP_000083.3:p.Asp1076Ala,35/48,\N,Unknown significance,\N,missense_variant,24.8,\N,\N,COL4A4
466758,2:227912257:C>CT,NM_000092.4:c.3222dup,NP_000083.3:p.Gly1075ArgfsTer2,35/48,\N,Pathogenic,Benign haematuria,frameshift_variant,36,\N,\N,COL4A4
466759,2:227912265:C>A,NM_000092.4:c.3215G>T,NP_000083.3:p.Gly1072Val,35/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,25.7,\N,\N,COL4A4
466760,2:227912267:T>C,NM_000092.4:c.3215-2A>G,\N,\N,34/47,Unknown significance,\N,splice_acceptor_variant,24.9,0.0000627983,EXAC_SAS_AF,COL4A4
466761,2:227912268:G>T,NM_000092.4:c.3215-3C>A,\N,\N,34/47,Unknown significance,\N,splice_region_variant&intron_variant,13.72,\N,\N,COL4A4
466762,2:227912276:T>TA,NM_000092.4:c.3215-12dup,\N,\N,34/47,Unknown significance,\N,intron_variant,3.276,\N,\N,COL4A4
466763,2:227912282:G>C,NM_000092.4:c.3215-17C>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.152,\N,\N,COL4A4
466764,2:227912289:A>G,NM_000092.4:c.3215-24T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,4.486,0.0000158464,EXAC_NFE_AF,COL4A4
466765,2:227912291:A>G,NM_000092.4:c.3215-26T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,1.481,0.0000158675,EXAC_NFE_AF,COL4A4
466766,2:227912295:C>G,NM_000092.4:c.3215-30G>C,\N,\N,34/47,Unknown significance,\N,intron_variant,1.854,0.0008,1KG_AFR_AF,COL4A4
466767,2:227912302:CA>C,NM_000092.4:c.3215-38del,\N,\N,34/47,Unknown significance,\N,intron_variant,10.26,0.000129132,EXAC_SAS_AF,COL4A4
466768,2:227912310:T>C,NM_000092.4:c.3215-45A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,9.847,0.000097371,EXAC_AMR_AF,COL4A4
466769,2:227912313:G>A,NM_000092.4:c.3215-48C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,10.71,0.000016518,EXAC_NFE_AF,COL4A4
466770,2:227912331:G>A,NM_000092.4:c.3215-66C>T,\N,\N,34/47,Benign,\N,intron_variant,5.144,0.637,1KG_SAS_AF,COL4A4
466771,2:227912336:G>A,NM_000092.4:c.3215-71C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,0.932,0.0023,1KG_AFR_AF,COL4A4
466772,2:227912343:G>A,NM_000092.4:c.3215-78C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,2.102,\N,\N,COL4A4
466773,2:227912344:T>C,NM_000092.4:c.3215-79A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,4.512,0.0008,1KG_AFR_AF,COL4A4
466774,2:227912359:T>C,NM_000092.4:c.3215-94A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,1.71,0.0008,1KG_AFR_AF,COL4A4
466775,2:227912374:G>A,NM_000092.4:c.3215-109C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,6.253,0.0015,1KG_AFR_AF,COL4A4
466776,2:227912375:G>A,NM_000092.4:c.3215-110C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,3.521,0.0008,1KG_AFR_AF,COL4A4
466777,2:227912393:T>C,NM_000092.4:c.3215-128A>G,\N,\N,34/47,Benign,\N,intron_variant,2.357,0.0212,1KG_AFR_AF,COL4A4
466778,2:227912430:A>G,NM_000092.4:c.3215-165T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,6.561,\N,\N,COL4A4
466779,2:227912435:G>A,NM_000092.4:c.3215-170C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,2.577,0.002,1KG_EAS_AF,COL4A4
466780,2:227912446:A>ACAACACAC,NM_000092.4:c.3215-182_3215-181insGTGTGTTG,\N,\N,34/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466781,2:227912446:A>ACCACACACAC,NM_000092.4:c.3215-191_3215-182dup,\N,\N,34/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466782,2:227912447:C>CCA,NM_000092.4:c.3215-184_3215-183dup,\N,\N,34/47,Unknown significance,\N,intron_variant,3.128,\N,\N,COL4A4
466783,2:227912447:C>CCACACA,NM_000092.4:c.3215-188_3215-183dup,\N,\N,34/47,Unknown significance,\N,intron_variant,2.492,\N,\N,COL4A4
466784,2:227912447:C>CCACACACA,NM_000092.4:c.3215-190_3215-183dup,\N,\N,34/47,Unknown significance,\N,intron_variant,2.2,\N,\N,COL4A4
466785,2:227912447:CCACACACACACA>C,NM_000092.4:c.3215-194_3215-183del,\N,\N,34/47,Unknown significance,\N,intron_variant,3.674,\N,\N,COL4A4
466786,2:227912468:C>CCA,NM_000092.4:c.3215-204_3215-203insTG,\N,\N,34/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466787,2:227912508:T>C,NM_000092.4:c.3215-243A>G,\N,\N,34/47,Benign,\N,intron_variant,0.459,0.0068,1KG_AFR_AF,COL4A4
466788,2:227912521:A>G,NM_000092.4:c.3215-256T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,4.596,\N,\N,COL4A4
466789,2:227912544:G>GA,NM_000092.4:c.3215-280dup,\N,\N,34/47,Benign,\N,intron_variant,0.551,0.0507,1KG_AFR_AF,COL4A4
466790,2:227912551:T>A,NM_000092.4:c.3215-286A>T,\N,\N,34/47,Benign,\N,intron_variant,6.299,0.636,1KG_SAS_AF,COL4A4
466791,2:227912592:G>A,NM_000092.4:c.3215-327C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,1.228,\N,\N,COL4A4
466792,2:227912641:G>A,NM_000092.4:c.3215-376C>T,\N,\N,34/47,Benign,\N,intron_variant,1.49,0.0076,1KG_AFR_AF,COL4A4
466793,2:227912650:G>A,NM_000092.4:c.3215-385C>T,\N,\N,34/47,Benign,\N,intron_variant,4.004,0.0212,1KG_AFR_AF,COL4A4
466794,2:227912657:T>A,NM_000092.4:c.3215-392A>T,\N,\N,34/47,Unknown significance,\N,intron_variant,7.845,0.001,1KG_EAS_AF,COL4A4
466795,2:227912696:G>A,NM_000092.4:c.3215-431C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,2.643,0.002,1KG_EUR_AF,COL4A4
466796,2:227912730:C>A,NM_000092.4:c.3215-465G>T,\N,\N,34/47,Unknown significance,\N,intron_variant,3.098,0.0008,1KG_AFR_AF,COL4A4
466797,2:227912793:A>G,NM_000092.4:c.3215-528T>C,\N,\N,34/47,Benign,\N,intron_variant,3.96,0.637,1KG_SAS_AF,COL4A4
466798,2:227912793:A>T,NM_000092.4:c.3215-528T>A,\N,\N,34/47,Unknown significance,\N,intron_variant,2.912,\N,\N,COL4A4
466799,2:227912829:G>A,NM_000092.4:c.3215-564C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,3.716,\N,\N,COL4A4
466800,2:227912836:C>T,NM_000092.4:c.3215-571G>A,\N,\N,34/47,Benign,\N,intron_variant,3.905,0.0219,1KG_AFR_AF,COL4A4
466801,2:227912930:T>C,NM_000092.4:c.3215-665A>G,\N,\N,34/47,Benign,\N,intron_variant,0.654,0.0091,1KG_AFR_AF,COL4A4
466802,2:227912951:T>C,NM_000092.4:c.3215-686A>G,\N,\N,34/47,Benign,\N,intron_variant,0.754,0.1967,1KG_AFR_AF,COL4A4
466803,2:227912955:T>G,NM_000092.4:c.3215-690A>C,\N,\N,34/47,Unknown significance,\N,intron_variant,4.222,0.0015,1KG_AFR_AF,COL4A4
466804,2:227912997:T>G,NM_000092.4:c.3215-732A>C,\N,\N,34/47,Unknown significance,\N,intron_variant,3.651,\N,\N,COL4A4
466805,2:227913057:G>A,NM_000092.4:c.3215-792C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,2.135,0.0038,1KG_AFR_AF,COL4A4
466806,2:227913078:C>G,NM_000092.4:c.3215-813G>C,\N,\N,34/47,Benign,\N,intron_variant,4.544,0.0507,1KG_AFR_AF,COL4A4
466807,2:227913092:C>T,NM_000092.4:c.3215-827G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,4.528,0.0031,1KG_SAS_AF,COL4A4
466808,2:227913122:T>C,NM_000092.4:c.3215-857A>G,\N,\N,34/47,Benign,\N,intron_variant,2.77,0.2307,1KG_AFR_AF,COL4A4
466809,2:227913122:TTG>CTA,NM_000092.4:c.3215-859_3215-857delinsTAG,\N,\N,34/47,Unknown significance,\N,intron_variant,4.782,\N,\N,COL4A4
466810,2:227913124:G>A,NM_000092.4:c.3215-859C>T,\N,\N,34/47,Benign,\N,intron_variant,5.734,0.2307,1KG_AFR_AF,COL4A4
466811,2:227913140:G>A,NM_000092.4:c.3215-875C>T,\N,\N,34/47,Benign,\N,intron_variant,7.431,0.637,1KG_SAS_AF,COL4A4
466812,2:227913222:A>G,NM_000092.4:c.3215-957T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,2.189,\N,\N,COL4A4
466813,2:227913267:G>A,NM_000092.4:c.3215-1002C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,0.085,\N,\N,COL4A4
466814,2:227913298:G>A,NM_000092.4:c.3215-1033C>T,\N,\N,34/47,Benign,\N,intron_variant,1.616,0.0847,1KG_AFR_AF,COL4A4
466815,2:227913314:A>C,NM_000092.4:c.3215-1049T>G,\N,\N,34/47,Benign,\N,intron_variant,1.73,0.637,1KG_SAS_AF,COL4A4
466816,2:227913335:AG>A,NM_000092.4:c.3215-1071del,\N,\N,34/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466817,2:227913442:T>A,NM_000092.4:c.3215-1177A>T,\N,\N,34/47,Benign,\N,intron_variant,11.95,0.637,1KG_SAS_AF,COL4A4
466818,2:227913450:G>A,NM_000092.4:c.3215-1185C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,4.478,0.002,1KG_EUR_AF,COL4A4
466819,2:227913479:G>A,NM_000092.4:c.3215-1214C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,4.576,0.001,1KG_SAS_AF,COL4A4
466820,2:227913502:G>A,NM_000092.4:c.3215-1237C>T,\N,\N,34/47,Benign,\N,intron_variant,1.203,0.0212,1KG_AFR_AF,COL4A4
466821,2:227913526:A>G,NM_000092.4:c.3214+1258T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,3.063,\N,\N,COL4A4
466822,2:227913539:A>G,NM_000092.4:c.3214+1245T>C,\N,\N,34/47,Benign,\N,intron_variant,1.734,0.637,1KG_SAS_AF,COL4A4
466823,2:227913545:A>G,NM_000092.4:c.3214+1239T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,5.341,0.0008,1KG_AFR_AF,COL4A4
466824,2:227913658:C>A,NM_000092.4:c.3214+1126G>T,\N,\N,34/47,Unknown significance,\N,intron_variant,3.908,\N,\N,COL4A4
466825,2:227913683:T>A,NM_000092.4:c.3214+1101A>T,\N,\N,34/47,Unknown significance,\N,intron_variant,4.934,\N,\N,COL4A4
466826,2:227913694:A>C,NM_000092.4:c.3214+1090T>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.468,0.0008,1KG_AFR_AF,COL4A4
466827,2:227913706:G>A,NM_000092.4:c.3214+1078C>T,\N,\N,34/47,Benign,\N,intron_variant,2.111,0.637,1KG_SAS_AF,COL4A4
466828,2:227913717:A>G,NM_000092.4:c.3214+1067T>C,\N,\N,34/47,Benign,\N,intron_variant,2.614,0.637,1KG_SAS_AF,COL4A4
466829,2:227913743:A>C,NM_000092.4:c.3214+1041T>G,\N,\N,34/47,Unknown significance,\N,intron_variant,12.78,\N,\N,COL4A4
466830,2:227913777:A>C,NM_000092.4:c.3214+1007T>G,\N,\N,34/47,Unknown significance,\N,intron_variant,1.53,0.002,1KG_SAS_AF,COL4A4
466831,2:227913801:C>G,NM_000092.4:c.3214+983G>C,\N,\N,34/47,Unknown significance,\N,intron_variant,1.729,\N,\N,COL4A4
466832,2:227913811:C>A,NM_000092.4:c.3214+973G>T,\N,\N,34/47,Unknown significance,\N,intron_variant,0.21,0.001,1KG_EAS_AF,COL4A4
466833,2:227913811:C>T,NM_000092.4:c.3214+973G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,0.213,\N,\N,COL4A4
466834,2:227913812:G>A,NM_000092.4:c.3214+972C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,2.246,0.002,1KG_EUR_AF,COL4A4
466835,2:227913831:A>C,NM_000092.4:c.3214+953T>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.382,0.001,1KG_EAS_AF,COL4A4
466836,2:227913848:G>C,NM_000092.4:c.3214+936C>G,\N,\N,34/47,Unknown significance,\N,intron_variant,6.639,0.0014,1KG_AMR_AF,COL4A4
466837,2:227913853:T>C,NM_000092.4:c.3214+931A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,13.65,\N,\N,COL4A4
466838,2:227913871:C>A,NM_000092.4:c.3214+913G>T,\N,\N,34/47,Unknown significance,\N,intron_variant,16.97,0.0031,1KG_SAS_AF,COL4A4
466839,2:227913912:T>C,NM_000092.4:c.3214+872A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,15.28,\N,\N,COL4A4
466840,2:227913941:CTT>C,NM_000092.4:c.3214+841_3214+842del,\N,\N,34/47,Benign,\N,intron_variant,4.506,0.0212,1KG_AFR_AF,COL4A4
466841,2:227913955:T>G,NM_000092.4:c.3214+829A>C,\N,\N,34/47,Unknown significance,\N,intron_variant,4.894,0.0014,1KG_AMR_AF,COL4A4
466842,2:227914055:G>A,NM_000092.4:c.3214+729C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,1.115,\N,\N,COL4A4
466843,2:227914108:A>AC,NM_000092.4:c.3214+675dup,\N,\N,34/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466844,2:227914130:A>G,NM_000092.4:c.3214+654T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,0.83,\N,\N,COL4A4
466845,2:227914188:C>T,NM_000092.4:c.3214+596G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,2.364,0.001,1KG_EUR_AF,COL4A4
466846,2:227914260:A>T,NM_000092.4:c.3214+524T>A,\N,\N,34/47,Unknown significance,\N,intron_variant,0.145,0.0008,1KG_AFR_AF,COL4A4
466847,2:227914263:T>A,NM_000092.4:c.3214+521A>T,\N,\N,34/47,Unknown significance,\N,intron_variant,3.042,0.002,1KG_SAS_AF,COL4A4
466848,2:227914272:T>TA,NM_000092.4:c.3214+511dup,\N,\N,34/47,Unknown significance,\N,intron_variant,0.542,\N,\N,COL4A4
466849,2:227914275:T>A,NM_000092.4:c.3214+509A>T,\N,\N,34/47,Benign,\N,intron_variant,2.598,0.636,1KG_SAS_AF,COL4A4
466850,2:227914278:A>T,NM_000092.4:c.3214+506T>A,\N,\N,34/47,Unknown significance,\N,intron_variant,0.291,0.002,1KG_EAS_AF,COL4A4
466851,2:227914287:T>C,NM_000092.4:c.3214+497A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,1.756,0.0008,1KG_AFR_AF,COL4A4
466852,2:227914290:T>G,NM_000092.4:c.3214+494A>C,\N,\N,34/47,Unknown significance,\N,intron_variant,1.958,0.0038,1KG_AFR_AF,COL4A4
466853,2:227914309:G>A,NM_000092.4:c.3214+475C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,0.365,\N,\N,COL4A4
466854,2:227914342:A>G,NM_000092.4:c.3214+442T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,3.468,0.0008,1KG_AFR_AF,COL4A4
466855,2:227914360:C>G,NM_000092.4:c.3214+424G>C,\N,\N,34/47,Unknown significance,\N,intron_variant,3.355,\N,\N,COL4A4
466856,2:227914362:A>G,NM_000092.4:c.3214+422T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,1.477,0.0045,1KG_AFR_AF,COL4A4
466857,2:227914391:C>T,NM_000092.4:c.3214+393G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,5.312,\N,\N,COL4A4
466858,2:227914425:C>T,NM_000092.4:c.3214+359G>A,\N,\N,34/47,Benign,\N,intron_variant,1.673,0.6411,1KG_SAS_AF,COL4A4
466859,2:227914432:T>C,NM_000092.4:c.3214+352A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.192,0.0014,1KG_AMR_AF,COL4A4
466860,2:227914435:G>A,NM_000092.4:c.3214+349C>T,\N,\N,34/47,Benign,\N,intron_variant,2.848,0.0696,1KG_AFR_AF,COL4A4
466861,2:227914449:A>G,NM_000092.4:c.3214+335T>C,\N,\N,34/47,Benign,\N,intron_variant,5.864,0.6411,1KG_SAS_AF,COL4A4
466862,2:227914457:C>T,NM_000092.4:c.3214+327G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,2.738,0.001,1KG_EAS_AF,COL4A4
466863,2:227914458:G>T,NM_000092.4:c.3214+326C>A,\N,\N,34/47,Benign,\N,intron_variant,0.509,0.6411,1KG_SAS_AF,COL4A4
466864,2:227914484:T>C,NM_000092.4:c.3214+300A>G,\N,\N,34/47,Benign,\N,intron_variant,4.526,0.637,1KG_SAS_AF,COL4A4
466865,2:227914487:C>T,NM_000092.4:c.3214+297G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,4.802,0.0015,1KG_AFR_AF,COL4A4
466866,2:227914554:G>A,NM_000092.4:c.3214+230C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,4.38,0.001,1KG_EUR_AF,COL4A4
466867,2:227914557:G>T,NM_000092.4:c.3214+227C>A,\N,\N,34/47,Benign,\N,intron_variant,1.82,0.0212,1KG_AFR_AF,COL4A4
466868,2:227914561:C>T,NM_000092.4:c.3214+223G>A,\N,\N,34/47,Benign,\N,intron_variant,0.163,0.4898,1KG_SAS_AF,COL4A4
466869,2:227914562:G>A,NM_000092.4:c.3214+222C>T,\N,\N,34/47,Benign,\N,intron_variant,1.717,0.0053,1KG_AFR_AF,COL4A4
466870,2:227914580:C>T,NM_000092.4:c.3214+204G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,10.08,\N,\N,COL4A4
466871,2:227914625:T>C,NM_000092.4:c.3214+159A>G,\N,\N,34/47,Benign,\N,intron_variant,0.949,0.637,1KG_SAS_AF,COL4A4
466872,2:227914627:T>C,NM_000092.4:c.3214+157A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.803,\N,\N,COL4A4
466873,2:227914628:T>C,NM_000092.4:c.3214+156A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,1.196,0.001,1KG_EAS_AF,COL4A4
466874,2:227914637:G>C,NM_000092.4:c.3214+147C>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.279,\N,\N,COL4A4
466875,2:227914655:C>G,NM_000092.4:c.3214+129G>C,\N,\N,34/47,Benign,\N,intron_variant,9.025,0.637,1KG_SAS_AF,COL4A4
466876,2:227914680:T>C,NM_000092.4:c.3214+104A>G,\N,\N,34/47,Benign,\N,intron_variant,1.913,0.0061,1KG_SAS_AF,COL4A4
466877,2:227914696:C>T,NM_000092.4:c.3214+88G>A,\N,\N,34/47,Unknown significance,\N,intron_variant,7.982,0.0008,1KG_AFR_AF,COL4A4
466878,2:227914717:G>C,NM_000092.4:c.3214+67C>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.884,\N,\N,COL4A4
466879,2:227914737:T>G,NM_000092.4:c.3214+47A>C,\N,\N,34/47,Unknown significance,\N,intron_variant,4.526,0.000115955,EXAC_EAS_AF,COL4A4
466880,2:227914739:G>A,NM_000092.4:c.3214+45C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,1.223,0.000121139,EXAC_SAS_AF,COL4A4
466881,2:227914739:G>C,NM_000092.4:c.3214+45C>G,\N,\N,34/47,Unknown significance,\N,intron_variant,0.225,0.0000899739,EXAC_NFE_AF,COL4A4
466882,2:227914741:G>A,NM_000092.4:c.3214+43C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,5.284,0.000121153,EXAC_SAS_AF,COL4A4
466883,2:227914749:A>AT,NM_000092.4:c.3214+34dup,\N,\N,34/47,Unknown significance,\N,intron_variant,1.627,\N,\N,COL4A4
466884,2:227914757:G>A,NM_000092.4:c.3214+27C>T,\N,\N,34/47,Unknown significance,\N,intron_variant,6.393,0.0000149889,EXAC_NFE_AF,COL4A4
466885,2:227914759:T>C,NM_000092.4:c.3214+25A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,7.18,\N,\N,COL4A4
466886,2:227914761:G>T,NM_000092.4:c.3214+23C>A,\N,\N,34/47,Unknown significance,\N,intron_variant,6.915,0.0000149889,EXAC_NFE_AF,COL4A4
466887,2:227914768:T>C,NM_000092.4:c.3214+16A>G,\N,\N,34/47,Unknown significance,\N,intron_variant,9.041,0.000121124,EXAC_SAS_AF,COL4A4
466888,2:227914769:A>G,NM_000092.4:c.3214+15T>C,\N,\N,34/47,Unknown significance,\N,intron_variant,9.76,0.000115929,EXAC_EAS_AF,COL4A4
466889,2:227914770:T>A,NM_000092.4:c.3214+14A>T,\N,\N,34/47,Unknown significance,\N,intron_variant,11.72,0.000014988,EXAC_NFE_AF,COL4A4
466890,2:227914778:C>T,NM_000092.4:c.3214+6G>A,\N,\N,34/47,Unknown significance,\N,splice_region_variant&intron_variant,11.15,0.000121714,EVS_EA_AF,COL4A4
466891,2:227914782:A>C,NM_000092.4:c.3214+2T>G,\N,\N,34/47,Unknown significance,\N,splice_donor_variant,24.3,0.0000863856,EXAC_AMR_AF,COL4A4
466892,2:227914783:C>A,NM_000092.4:c.3214+1G>T,\N,\N,34/47,Unknown significance,\N,splice_donor_variant,27,0.0000605694,EXAC_SAS_AF,COL4A4
466893,2:227914792:C>T,NM_000092.4:c.3206G>A,NP_000083.3:p.Gly1069Glu,34/48,\N,Pathogenic,Alport syndrome,missense_variant,25.9,\N,\N,COL4A4
466894,2:227914801:C>A,NM_000092.4:c.3197G>T,NP_000083.3:p.Gly1066Val,34/48,\N,Pathogenic,Alport syndrome,missense_variant,26.2,0.0000149858,EXAC_NFE_AF,COL4A4
466895,2:227914803:A>T,NM_000092.4:c.3195T>A,NP_000083.3:p.Asp1065Glu,34/48,\N,Unknown significance,\N,missense_variant,13.46,0.0014,1KG_AMR_AF,COL4A4
466896,2:227914807:A>G,NM_000092.4:c.3191T>C,NP_000083.3:p.Ile1064Thr,34/48,\N,Likely benign,\N,missense_variant,4.167,0.0000299715,EXAC_NFE_AF,COL4A4
466897,2:227914808:T>C,NM_000092.4:c.3190A>G,NP_000083.3:p.Ile1064Val,34/48,\N,Likely benign,\N,missense_variant,8.101,0.0000863856,EXAC_AMR_AF,COL4A4
466898,2:227914826:G>T,NM_000092.4:c.3172C>A,NP_000083.3:p.Pro1058Thr,34/48,\N,Likely benign,\N,missense_variant,11.65,0.0000149867,EXAC_NFE_AF,COL4A4
466899,2:227914829:C>T,NM_000092.4:c.3169G>A,NP_000083.3:p.Gly1057Ser,34/48,\N,Unknown significance,\N,missense_variant,27.1,0.0000149862,EXAC_NFE_AF,COL4A4
466900,2:227914834:G>C,NM_000092.4:c.3164C>G,NP_000083.3:p.Ser1055Cys,34/48,\N,Likely benign,\N,missense_variant,18.18,0.0008,1KG_AFR_AF,COL4A4
466901,2:227914847:C>G,NM_000092.4:c.3151G>C,NP_000083.3:p.Gly1051Arg,34/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,26.1,\N,\N,COL4A4
466902,2:227914852:C>T,NM_000092.4:c.3151-5G>A,\N,\N,33/47,Unknown significance,\N,splice_region_variant&intron_variant,9.417,0.000121625,EVS_EA_AF,COL4A4
466903,2:227914855:T>C,NM_000092.4:c.3151-8A>G,\N,\N,33/47,Unknown significance,\N,splice_region_variant&intron_variant,9.97,0.0000149957,EXAC_NFE_AF,COL4A4
466904,2:227914870:G>C,NM_000092.4:c.3151-23C>G,\N,\N,33/47,Unknown significance,\N,intron_variant,6.833,0.00017301,EXAC_AMR_AF,COL4A4
466905,2:227914871:G>T,NM_000092.4:c.3151-24C>A,\N,\N,33/47,Unknown significance,\N,intron_variant,6.017,0.0000300039,EXAC_NFE_AF,COL4A4
466906,2:227914875:T>C,NM_000092.4:c.3151-28A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,6.842,0.000302847,EXAC_FIN_AF,COL4A4
466907,2:227914876:A>G,NM_000092.4:c.3151-29T>C,\N,\N,33/47,Unknown significance,\N,intron_variant,8.733,0.0000150047,EXAC_NFE_AF,COL4A4
466908,2:227914878:T>A,NM_000092.4:c.3151-31A>T,\N,\N,33/47,Benign,\N,intron_variant,12.03,0.00606575,EXAC_SAS_AF,COL4A4
466909,2:227914878:T>G,NM_000092.4:c.3151-31A>C,\N,\N,33/47,Unknown significance,\N,intron_variant,10.99,0.00024263,EXAC_SAS_AF,COL4A4
466910,2:227914899:C>A,NM_000092.4:c.3151-52G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,12.05,0.0000607091,EXAC_SAS_AF,COL4A4
466911,2:227914936:C>T,NM_000092.4:c.3151-89G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,4.222,\N,\N,COL4A4
466912,2:227914960:G>A,NM_000092.4:c.3151-113C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,7.854,\N,\N,COL4A4
466913,2:227914967:C>T,NM_000092.4:c.3151-120G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,1.003,0.0008,1KG_AFR_AF,COL4A4
466914,2:227914975:T>G,NM_000092.4:c.3151-128A>C,\N,\N,33/47,Benign,\N,intron_variant,3.401,0.8964,1KG_AFR_AF,COL4A4
466915,2:227915019:G>A,NM_000092.4:c.3151-172C>T,\N,\N,33/47,Benign,\N,intron_variant,7.41,0.0058,1KG_AMR_AF,COL4A4
466916,2:227915063:T>C,NM_000092.4:c.3151-216A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,4.584,0.0031,1KG_SAS_AF,COL4A4
466917,2:227915098:T>C,NM_000092.4:c.3151-251A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,9.271,0.001,1KG_EUR_AF,COL4A4
466918,2:227915157:T>C,NM_000092.4:c.3151-310A>G,\N,\N,33/47,Benign,\N,intron_variant,13.57,0.1067,1KG_AFR_AF,COL4A4
466919,2:227915216:G>A,NM_000092.4:c.3151-369C>T,\N,\N,33/47,Benign,\N,intron_variant,2.351,0.0058,1KG_AMR_AF,COL4A4
466920,2:227915234:T>C,NM_000092.4:c.3151-387A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,5.757,\N,\N,COL4A4
466921,2:227915259:A>G,NM_000092.4:c.3151-412T>C,\N,\N,33/47,Unknown significance,\N,intron_variant,2.016,\N,\N,COL4A4
466922,2:227915304:G>A,NM_000092.4:c.3150+389C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,6.39,0.001,1KG_EAS_AF,COL4A4
466923,2:227915314:C>T,NM_000092.4:c.3150+379G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,0.253,0.001,1KG_EUR_AF,COL4A4
466924,2:227915315:G>A,NM_000092.4:c.3150+378C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,0.715,0.0014,1KG_AMR_AF,COL4A4
466925,2:227915327:A>G,NM_000092.4:c.3150+366T>C,\N,\N,33/47,Unknown significance,\N,intron_variant,5.332,0.001,1KG_EAS_AF,COL4A4
466926,2:227915418:T>C,NM_000092.4:c.3150+275A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,1.473,\N,\N,COL4A4
466927,2:227915419:C>T,NM_000092.4:c.3150+274G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,6.712,0.002,1KG_SAS_AF,COL4A4
466928,2:227915436:T>C,NM_000092.4:c.3150+257A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,1.268,0.0023,1KG_AFR_AF,COL4A4
466929,2:227915439:G>A,NM_000092.4:c.3150+254C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,3.85,\N,\N,COL4A4
466930,2:227915441:G>A,NM_000092.4:c.3150+252C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,1.902,\N,\N,COL4A4
466931,2:227915442:G>C,NM_000092.4:c.3150+251C>G,\N,\N,33/47,Unknown significance,\N,intron_variant,0.607,0.0008,1KG_AFR_AF,COL4A4
466932,2:227915465:C>T,NM_000092.4:c.3150+228G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,0.561,\N,\N,COL4A4
466933,2:227915466:G>A,NM_000092.4:c.3150+227C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,1.197,\N,\N,COL4A4
466934,2:227915497:C>A,NM_000092.4:c.3150+196G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,2.056,0.0008,1KG_AFR_AF,COL4A4
466935,2:227915531:G>A,NM_000092.4:c.3150+162C>T,\N,\N,33/47,Benign,\N,intron_variant,2.983,0.0219,1KG_AFR_AF,COL4A4
466936,2:227915555:T>C,NM_000092.4:c.3150+138A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,1.736,0.0023,1KG_AFR_AF,COL4A4
466937,2:227915558:T>C,NM_000092.4:c.3150+135A>G,\N,\N,33/47,Unknown significance,\N,intron_variant,2.033,0.001,1KG_EAS_AF,COL4A4
466938,2:227915601:G>T,NM_000092.4:c.3150+92C>A,\N,\N,33/47,Benign,\N,intron_variant,0.662,0.637,1KG_SAS_AF,COL4A4
466939,2:227915604:T>A,NM_000092.4:c.3150+89A>T,\N,\N,33/47,Unknown significance,\N,intron_variant,5.459,0.0008,1KG_AFR_AF,COL4A4
466940,2:227915626:C>A,NM_000092.4:c.3150+67G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,4.956,\N,\N,COL4A4
466941,2:227915631:C>T,NM_000092.4:c.3150+62G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,1.195,\N,\N,COL4A4
466942,2:227915632:G>A,NM_000092.4:c.3150+61C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,1.804,0.001,1KG_EAS_AF,COL4A4
466943,2:227915648:G>A,NM_000092.4:c.3150+45C>T,\N,\N,33/47,Unknown significance,\N,intron_variant,3.628,0.0000150119,EXAC_NFE_AF,COL4A4
466944,2:227915653:GTTTTA>G,NM_000092.4:c.3150+35_3150+39del,\N,\N,33/47,Unknown significance,\N,intron_variant,9.419,\N,\N,COL4A4
466945,2:227915663:C>A,NM_000092.4:c.3150+30G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,1.313,0.001,1KG_EAS_AF,COL4A4
466946,2:227915667:TC>T,NM_000092.4:c.3150+25del,\N,\N,33/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
466947,2:227915668:C>G,NM_000092.4:c.3150+25G>C,\N,\N,33/47,Unknown significance,\N,intron_variant,2.487,0.000232126,EXAC_EAS_AF,COL4A4
466948,2:227915669:C>A,NM_000092.4:c.3150+24G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,7.119,0.000121359,EVS_EA_AF,COL4A4
466949,2:227915670:C>T,NM_000092.4:c.3150+23G>A,\N,\N,33/47,Unknown significance,\N,intron_variant,4.544,0.0014,1KG_AMR_AF,COL4A4
466950,2:227915679:C>A,NM_000092.4:c.3150+14G>T,\N,\N,33/47,Unknown significance,\N,intron_variant,6.557,\N,\N,COL4A4
466951,2:227915688:C>G,NM_000092.4:c.3150+5G>C,\N,\N,33/47,Unknown significance,\N,splice_region_variant&intron_variant,18.37,0.001,1KG_SAS_AF,COL4A4
466952,2:227915690:T>G,NM_000092.4:c.3150+3A>C,\N,\N,33/47,Unknown significance,\N,splice_region_variant&intron_variant,15.65,0.0000863856,EXAC_AMR_AF,COL4A4
466953,2:227915693:CTGGTC>G,NM_000092.4:c.3145_3150delinsC,NP_000083.3:p.Asp1049ArgfsTer2,33/48,\N,Pathogenic,Benign haematuria,frameshift_variant&splice_region_variant,\N,\N,\N,COL4A4
466954,2:227915704:G>A,NM_000092.4:c.3139C>T,NP_000083.3:p.Pro1047Ser,33/48,\N,Unknown significance,\N,missense_variant,21.5,0.000151194,EXAC_FIN_AF,COL4A4
466955,2:227915723:G>T,NM_000092.4:c.3120C>A,NP_000083.3:p.Phe1040Leu,33/48,\N,Likely benign,\N,missense_variant,23.5,0.0000863856,EXAC_AMR_AF,COL4A4
466956,2:227915726:C>T,NM_000092.4:c.3117G>A,NP_000083.3:p.Gly1039=,33/48,\N,Unknown significance,\N,synonymous_variant,11.58,0.0000149853,EXAC_NFE_AF,COL4A4
466957,2:227915731:T>C,NM_000092.4:c.3112A>G,NP_000083.3:p.Arg1038Gly,33/48,\N,Unknown significance,\N,missense_variant,17.05,0.0000299697,EXAC_NFE_AF,COL4A4
466958,2:227915735:A>G,NM_000092.4:c.3108T>C,NP_000083.3:p.Gly1036=,33/48,\N,Unknown significance,\N,synonymous_variant,0.027,0.002,1KG_EUR_AF,COL4A4
466959,2:227915736:C>A,NM_000092.4:c.3107G>T,NP_000083.3:p.Gly1036Val,33/48,\N,Unknown significance,\N,missense_variant,23.2,0.0000149849,EXAC_NFE_AF,COL4A4
466960,2:227915754:C>T,NM_000092.4:c.3089G>A,NP_000083.3:p.Gly1030Asp,33/48,\N,Unknown significance,\N,missense_variant,23.7,0.000102082,EXAC_AFR_AF,COL4A4
466961,2:227915754:C>A,NM_000092.4:c.3089G>T,NP_000083.3:p.Gly1030Val,33/48,\N,Pathogenic,Alport syndrome,missense_variant,23.8,\N,\N,COL4A4
466962,2:227915758:G>A,NM_000092.4:c.3085C>T,NP_000083.3:p.Pro1029Ser,33/48,\N,Unknown significance,\N,missense_variant,18.52,0.000579643,EXAC_EAS_AF,COL4A4
466963,2:227915763:C>G,NM_000092.4:c.3080G>C,NP_000083.3:p.Gly1027Ala,33/48,\N,Unknown significance,\N,missense_variant,23,0.000060562,EXAC_SAS_AF,COL4A4
466964,2:227915770:G>T,NM_000092.4:c.3073C>A,NP_000083.3:p.Pro1025Thr,33/48,\N,Unknown significance,\N,missense_variant,7.129,0.000060562,EXAC_SAS_AF,COL4A4
466965,2:227915791:C>G,NM_000092.4:c.3052G>C,NP_000083.3:p.Gly1018Arg,33/48,\N,Unknown significance,\N,missense_variant,23.5,0.0000149835,EXAC_NFE_AF,COL4A4
466966,2:227915799:C>T,NM_000092.4:c.3044G>A,NP_000083.3:p.Gly1015Glu,33/48,\N,Unknown significance,\N,missense_variant,23.9,0.0000899011,EXAC_NFE_AF,COL4A4
466967,2:227915806:G>A,NM_000092.4:c.3037C>T,NP_000083.3:p.His1013Tyr,33/48,\N,Likely benign,\N,missense_variant,7.022,0.0000299688,EXAC_NFE_AF,COL4A4
466968,2:227915814:G>A,NM_000092.4:c.3029C>T,NP_000083.3:p.Pro1010Leu,33/48,\N,Unknown significance,\N,missense_variant,23.4,0.001,1KG_EAS_AF,COL4A4
466969,2:227915814:G>C,NM_000092.4:c.3029C>G,NP_000083.3:p.Pro1010Arg,33/48,\N,Unknown significance,\N,missense_variant,16.34,0.00010202,EXAC_AFR_AF,COL4A4
466970,2:227915821:C>T,NM_000092.4:c.3022G>A,NP_000083.3:p.Gly1008Arg,33/48,\N,Unknown significance,\N,missense_variant,24.1,0.0008,1KG_AFR_AF,COL4A4
466971,2:227915822:G>A,NM_000092.4:c.3021C>T,NP_000083.3:p.Tyr1007=,33/48,\N,Unknown significance,\N,synonymous_variant,0.856,0.00010202,EXAC_AFR_AF,COL4A4
466972,2:227915824:A>G,NM_000092.4:c.3019T>C,NP_000083.3:p.Tyr1007His,33/48,\N,Likely benign,\N,missense_variant,0.008,0.000115929,EXAC_EAS_AF,COL4A4
466973,2:227915825:T>A,NM_000092.4:c.3018A>T,NP_000083.3:p.Arg1006Ser,33/48,\N,Likely benign,\N,missense_variant,0.363,0.00248304,EXAC_SAS_AF,COL4A4
466974,2:227915829:C>T,NM_000092.4:c.3014G>A,NP_000083.3:p.Gly1005Glu,33/48,\N,Unknown significance,\N,missense_variant,23.4,0.00138217,EXAC_AMR_AF,COL4A4
466975,2:227915831:C>T,NM_000092.4:c.3012G>A,NP_000083.3:p.Pro1004=,33/48,\N,Unknown significance,\N,synonymous_variant,11.66,0.000121124,EXAC_SAS_AF,COL4A4
466976,2:227915832:G>A,NM_000092.4:c.3011C>T,NP_000083.3:p.Pro1004Leu,33/48,\N,Benign,\N,missense_variant,20.9,0.643411,EXAC_SAS_AF,COL4A4
466977,2:227915832:G>T,NM_000092.4:c.3011C>A,NP_000083.3:p.Pro1004Gln,33/48,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,COL4A4
466978,2:227915843:T>C,NM_000092.4:c.3000A>G,NP_000083.3:p.Arg1000=,33/48,\N,Unknown significance,\N,synonymous_variant,0.265,0.0000149835,EXAC_NFE_AF,COL4A4
466979,2:227915847:C>T,NM_000092.4:c.2996G>A,NP_000083.3:p.Gly999Glu,33/48,\N,Benign,\N,missense_variant,23.9,0.0175607,EXAC_NFE_AF,COL4A4
466980,2:227915857:C>T,NM_000092.4:c.2986G>A,NP_000083.3:p.Gly996Arg,33/48,\N,Pathogenic,Benign familial hematuria,missense_variant,24.4,0.000121714,EVS_EA_AF,COL4A4
466981,2:227915858:G>A,NM_000092.4:c.2985C>T,NP_000083.3:p.Pro995=,33/48,\N,Unknown significance,\N,synonymous_variant,8.754,0.001,1KG_EAS_AF,COL4A4
466982,2:227915870:A>G,NM_000092.4:c.2973T>C,NP_000083.3:p.Asp991=,33/48,\N,Unknown significance,\N,synonymous_variant,1.198,0.0000149853,EXAC_NFE_AF,COL4A4
466983,2:227915874:C>T,NM_000092.4:c.2969G>A,NP_000083.3:p.Gly990Asp,33/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.9,0.000121124,EXAC_SAS_AF,COL4A4
466984,2:227915883:G>A,NM_000092.4:c.2969-9C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,6.168,0.0000149849,EXAC_NFE_AF,COL4A4
466985,2:227915887:G>T,NM_000092.4:c.2969-13C>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.274,0.0000149853,EXAC_NFE_AF,COL4A4
466986,2:227915895:A>C,NM_000092.4:c.2969-21T>G,\N,\N,32/47,Unknown significance,\N,intron_variant,3.629,0.000610054,EVS_EA_AF,COL4A4
466987,2:227915911:A>C,NM_000092.4:c.2969-37T>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.789,0.0000149867,EXAC_NFE_AF,COL4A4
466988,2:227915912:T>C,NM_000092.4:c.2969-38A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,5.471,0.000347866,EXAC_EAS_AF,COL4A4
466989,2:227915918:G>A,NM_000092.4:c.2969-44C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,4.22,0.0000149871,EXAC_NFE_AF,COL4A4
466990,2:227915924:T>C,NM_000092.4:c.2969-50A>G,\N,\N,32/47,Benign,\N,intron_variant,2.449,0.1905,1KG_EAS_AF,COL4A4
466991,2:227915957:T>C,NM_000092.4:c.2969-83A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,5.823,0.0008,1KG_AFR_AF,COL4A4
466992,2:227916004:C>T,NM_000092.4:c.2969-130G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,2.692,0.0008,1KG_AFR_AF,COL4A4
466993,2:227916005:C>A,NM_000092.4:c.2969-131G>T,\N,\N,32/47,Unknown significance,\N,intron_variant,0.406,\N,\N,COL4A4
466994,2:227916005:C>T,NM_000092.4:c.2969-131G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.382,0.002,1KG_SAS_AF,COL4A4
466995,2:227916006:G>A,NM_000092.4:c.2969-132C>T,\N,\N,32/47,Benign,\N,intron_variant,1.336,0.006,1KG_EAS_AF,COL4A4
466996,2:227916024:G>C,NM_000092.4:c.2969-150C>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.278,0.0029,1KG_AMR_AF,COL4A4
466997,2:227916033:A>G,NM_000092.4:c.2969-159T>C,\N,\N,32/47,Unknown significance,\N,intron_variant,2.155,0.001,1KG_EAS_AF,COL4A4
466998,2:227916039:T>C,NM_000092.4:c.2969-165A>G,\N,\N,32/47,Benign,\N,intron_variant,2.266,0.637,1KG_SAS_AF,COL4A4
466999,2:227916044:G>A,NM_000092.4:c.2969-170C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,2.796,0.0023,1KG_AFR_AF,COL4A4
467000,2:227916113:C>T,NM_000092.4:c.2969-239G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.401,0.001,1KG_EAS_AF,COL4A4
467001,2:227916114:G>A,NM_000092.4:c.2969-240C>T,\N,\N,32/47,Benign,\N,intron_variant,0.863,0.0174,1KG_AFR_AF,COL4A4
467002,2:227916139:C>G,NM_000092.4:c.2969-265G>C,\N,\N,32/47,Unknown significance,\N,intron_variant,1.675,0.0023,1KG_AFR_AF,COL4A4
467003,2:227916151:A>G,NM_000092.4:c.2969-277T>C,\N,\N,32/47,Unknown significance,\N,intron_variant,6.1,\N,\N,COL4A4
467004,2:227916193:C>T,NM_000092.4:c.2969-319G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,2.238,\N,\N,COL4A4
467005,2:227916281:T>C,NM_000092.4:c.2969-407A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,2.703,0.002,1KG_SAS_AF,COL4A4
467006,2:227916293:ATGGGCAT>A,NM_000092.4:c.2969-426_2969-420del,\N,\N,32/47,Unknown significance,\N,intron_variant,6.25,\N,\N,COL4A4
467007,2:227916296:GGCAT>G,NM_000092.4:c.2969-426_2969-423del,\N,\N,32/47,Unknown significance,\N,intron_variant,\N,0.004,1KG_EUR_AF,COL4A4
467008,2:227916300:T>C,NM_000092.4:c.2969-426A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,1.696,0.001,1KG_SAS_AF,COL4A4
467009,2:227916300:TTGGG>T,NM_000092.4:c.2969-430_2969-427del,\N,\N,32/47,Unknown significance,\N,intron_variant,5.726,\N,\N,COL4A4
467010,2:227916301:TGGG>T,NM_000092.4:c.2969-430_2969-428del,\N,\N,32/47,Unknown significance,\N,intron_variant,\N,0.004,1KG_EUR_AF,COL4A4
467011,2:227916323:G>T,NM_000092.4:c.2969-449C>A,\N,\N,32/47,Unknown significance,\N,intron_variant,8.819,0.001,1KG_EAS_AF,COL4A4
467012,2:227916343:G>A,NM_000092.4:c.2969-469C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,3.184,\N,\N,COL4A4
467013,2:227916345:T>C,NM_000092.4:c.2969-471A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,3.973,0.002,1KG_SAS_AF,COL4A4
467014,2:227916347:C>G,NM_000092.4:c.2969-473G>C,\N,\N,32/47,Unknown significance,\N,intron_variant,4.628,\N,\N,COL4A4
467015,2:227916357:A>G,NM_000092.4:c.2969-483T>C,\N,\N,32/47,Unknown significance,\N,intron_variant,6.749,0.001,1KG_EAS_AF,COL4A4
467016,2:227916372:A>G,NM_000092.4:c.2969-498T>C,\N,\N,32/47,Unknown significance,\N,intron_variant,1.605,0.002,1KG_EAS_AF,COL4A4
467017,2:227916377:T>A,NM_000092.4:c.2969-503A>T,\N,\N,32/47,Unknown significance,\N,intron_variant,3.913,\N,\N,COL4A4
467018,2:227916382:G>C,NM_000092.4:c.2969-508C>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.217,\N,\N,COL4A4
467019,2:227916433:A>G,NM_000092.4:c.2969-559T>C,\N,\N,32/47,Benign,\N,intron_variant,0.597,0.0174,1KG_AFR_AF,COL4A4
467020,2:227916438:T>C,NM_000092.4:c.2969-564A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.116,\N,\N,COL4A4
467021,2:227916453:T>C,NM_000092.4:c.2968+568A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.742,0.001,1KG_EAS_AF,COL4A4
467022,2:227916516:A>G,NM_000092.4:c.2968+505T>C,\N,\N,32/47,Unknown significance,\N,intron_variant,10.93,0.001,1KG_EAS_AF,COL4A4
467023,2:227916533:G>A,NM_000092.4:c.2968+488C>T,\N,\N,32/47,Benign,\N,intron_variant,4.484,0.637,1KG_SAS_AF,COL4A4
467024,2:227916533:G>C,NM_000092.4:c.2968+488C>G,\N,\N,32/47,Unknown significance,\N,intron_variant,1.185,\N,\N,COL4A4
467025,2:227916567:G>A,NM_000092.4:c.2968+454C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,1.944,\N,\N,COL4A4
467026,2:227916569:A>C,NM_000092.4:c.2968+452T>G,\N,\N,32/47,Unknown significance,\N,intron_variant,3.027,0.001,1KG_EAS_AF,COL4A4
467027,2:227916580:T>C,NM_000092.4:c.2968+441A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,11.36,\N,\N,COL4A4
467028,2:227916612:T>TA,NM_000092.4:c.2968+408dup,\N,\N,32/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467029,2:227916613:A>T,NM_000092.4:c.2968+408T>A,\N,\N,32/47,Unknown significance,\N,intron_variant,6.221,0.001,1KG_SAS_AF,COL4A4
467030,2:227916619:A>T,NM_000092.4:c.2968+402T>A,\N,\N,32/47,Benign,\N,intron_variant,9.288,0.0219,1KG_AFR_AF,COL4A4
467031,2:227916632:C>A,NM_000092.4:c.2968+389G>T,\N,\N,32/47,Unknown significance,\N,intron_variant,2.301,\N,\N,COL4A4
467032,2:227916674:G>C,NM_000092.4:c.2968+347C>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.221,0.001,1KG_EAS_AF,COL4A4
467033,2:227916676:C>T,NM_000092.4:c.2968+345G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.355,0.0008,1KG_AFR_AF,COL4A4
467034,2:227916677:G>A,NM_000092.4:c.2968+344C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,0.047,\N,\N,COL4A4
467035,2:227916687:C>T,NM_000092.4:c.2968+334G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,4.446,0.0014,1KG_AMR_AF,COL4A4
467036,2:227916706:G>A,NM_000092.4:c.2968+315C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,1.973,0.001,1KG_EUR_AF,COL4A4
467037,2:227916763:C>G,NM_000092.4:c.2968+258G>C,\N,\N,32/47,Unknown significance,\N,intron_variant,1.067,0.001,1KG_SAS_AF,COL4A4
467038,2:227916778:G>A,NM_000092.4:c.2968+243C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,2.071,0.003,1KG_EUR_AF,COL4A4
467039,2:227916780:G>A,NM_000092.4:c.2968+241C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,0.075,0.001,1KG_EUR_AF,COL4A4
467040,2:227916799:C>T,NM_000092.4:c.2968+222G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,3.97,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
467041,2:227916800:G>A,NM_000092.4:c.2968+221C>T,\N,\N,32/47,Benign,\N,intron_variant,1.335,0.0242,1KG_AFR_AF,COL4A4
467042,2:227916802:G>A,NM_000092.4:c.2968+219C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,2.372,\N,\N,COL4A4
467043,2:227916821:C>T,NM_000092.4:c.2968+200G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,6.355,\N,\N,COL4A4
467044,2:227916863:T>C,NM_000092.4:c.2968+158A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,0.387,\N,\N,COL4A4
467045,2:227916883:G>A,NM_000092.4:c.2968+138C>T,\N,\N,32/47,Unknown significance,\N,intron_variant,1.539,0.0014,1KG_AMR_AF,COL4A4
467046,2:227916885:C>A,NM_000092.4:c.2968+136G>T,\N,\N,32/47,Unknown significance,\N,intron_variant,0.31,0.0008,1KG_AFR_AF,COL4A4
467047,2:227916885:C>T,NM_000092.4:c.2968+136G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.322,\N,\N,COL4A4
467048,2:227916886:G>T,NM_000092.4:c.2968+135C>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.198,\N,\N,COL4A4
467049,2:227916904:T>C,NM_000092.4:c.2968+117A>G,\N,\N,32/47,Benign,\N,intron_variant,1.253,0.0219,1KG_AFR_AF,COL4A4
467050,2:227916907:C>CA,NM_000092.4:c.2968+113dup,\N,\N,32/47,Unknown significance,\N,intron_variant,2.491,\N,\N,COL4A4
467051,2:227916922:C>A,NM_000092.4:c.2968+99G>T,\N,\N,32/47,Unknown significance,\N,intron_variant,1.658,0.0043,1KG_AMR_AF,COL4A4
467052,2:227916942:T>C,NM_000092.4:c.2968+79A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,3.202,0.001,1KG_EUR_AF,COL4A4
467053,2:227916962:A>C,NM_000092.4:c.2968+59T>G,\N,\N,32/47,Benign,\N,intron_variant,1.568,0.0174,1KG_AFR_AF,COL4A4
467054,2:227916977:A>G,NM_000092.4:c.2968+44T>C,\N,\N,32/47,Benign,\N,intron_variant,2.455,0.0174,1KG_AFR_AF,COL4A4
467055,2:227916982:C>T,NM_000092.4:c.2968+39G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,5.445,0.000107945,EXAC_AFR_AF,COL4A4
467056,2:227916989:T>C,NM_000092.4:c.2968+32A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,4.036,0.00013468,EXAC_SAS_AF,COL4A4
467057,2:227916990:T>C,NM_000092.4:c.2968+31A>G,\N,\N,32/47,Unknown significance,\N,intron_variant,3.496,0.0000165333,EXAC_NFE_AF,COL4A4
467058,2:227916990:T>G,NM_000092.4:c.2968+31A>C,\N,\N,32/47,Unknown significance,\N,intron_variant,5.433,0.0000165333,EXAC_NFE_AF,COL4A4
467059,2:227916995:A>T,NM_000092.4:c.2968+26T>A,\N,\N,32/47,Benign,\N,intron_variant,4.442,0.0137104,EXAC_AFR_AF,COL4A4
467060,2:227917006:C>T,NM_000092.4:c.2968+15G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,2.021,0.000205963,EXAC_NFE_AF,COL4A4
467061,2:227917008:C>CT,NM_000092.4:c.2968+12dup,\N,\N,32/47,Unknown significance,\N,intron_variant,2.489,0.0000472188,EXAC_NFE_AF,COL4A4
467062,2:227917008:C>T,NM_000092.4:c.2968+13G>A,\N,\N,32/47,Unknown significance,\N,intron_variant,0.226,0.002,1KG_SAS_AF,COL4A4
467063,2:227917020:CCT>C,NM_000092.4:c.2967_2968del,NP_000083.3:p.Gly990Ter,32/48,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,0.000126263,EXAC_SAS_AF,COL4A4
467064,2:227917044:T>C,NM_000092.4:c.2945A>G,NP_000083.3:p.Asp982Gly,32/48,\N,Likely benign,\N,missense_variant,14.44,0.0000150069,EXAC_NFE_AF,COL4A4
467065,2:227917050:G>C,NM_000092.4:c.2939C>G,NP_000083.3:p.Pro980Arg,32/48,\N,Unknown significance,\N,missense_variant,15.1,\N,\N,COL4A4
467066,2:227917057:C>T,NM_000092.4:c.2932G>A,NP_000083.3:p.Gly978Arg,32/48,\N,Unknown significance,\N,missense_variant,26,\N,\N,COL4A4
467067,2:227917060:G>C,NM_000092.4:c.2929C>G,NP_000083.3:p.Pro977Ala,32/48,\N,Likely benign,\N,missense_variant,7.105,0.0000749535,EXAC_NFE_AF,COL4A4
467068,2:227917064:C>T,NM_000092.4:c.2925G>A,NP_000083.3:p.Gly975=,32/48,\N,Unknown significance,\N,synonymous_variant,17.54,0.001,1KG_SAS_AF,COL4A4
467069,2:227917067:A>G,NM_000092.4:c.2922T>C,NP_000083.3:p.Pro974=,32/48,\N,Unknown significance,\N,synonymous_variant,4.986,0.000242777,EXAC_SAS_AF,COL4A4
467070,2:227917075:C>T,NM_000092.4:c.2914G>A,NP_000083.3:p.Gly972Arg,32/48,\N,Unknown significance,\N,missense_variant,25.1,0.0000149862,EXAC_NFE_AF,COL4A4
467071,2:227917079:T>C,NM_000092.4:c.2910A>G,NP_000083.3:p.Gln970=,32/48,\N,Unknown significance,\N,synonymous_variant,0.475,0.0000606575,EXAC_SAS_AF,COL4A4
467072,2:227917081:G>A,NM_000092.4:c.2908C>T,NP_000083.3:p.Gln970Ter,32/48,\N,Unknown significance,\N,stop_gained,35,0.0000149858,EXAC_NFE_AF,COL4A4
467073,2:227917081:G>C,NM_000092.4:c.2908C>G,NP_000083.3:p.Gln970Glu,32/48,\N,Likely benign,\N,missense_variant,0.005,0.00012213,EVS_EA_AF,COL4A4
467074,2:227917082:T>G,NM_000092.4:c.2907A>C,NP_000083.3:p.Ser969=,32/48,\N,Benign,\N,synonymous_variant,8.971,0.0174,1KG_AFR_AF,COL4A4
467075,2:227917083:G>C,NM_000092.4:c.2906C>G,NP_000083.3:p.Ser969Ter,32/48,\N,Pathogenic,Alport syndrome,stop_gained,36,0.00012216,EVS_EA_AF,COL4A4
467076,2:227917087:T>C,NM_000092.4:c.2902A>G,NP_000083.3:p.Ile968Val,32/48,\N,Likely benign,\N,missense_variant,0.005,\N,\N,COL4A4
467077,2:227917090:T>C,NM_000092.4:c.2899A>G,NP_000083.3:p.Ile967Val,32/48,\N,Benign,\N,missense_variant,1.014,0.0545,1KG_AFR_AF,COL4A4
467078,2:227917101:CCTT>C,NM_000092.4:c.2885_2887del,NP_000083.3:p.Glu962del,32/48,\N,Unknown significance,\N,inframe_deletion,20.6,\N,\N,COL4A4
467079,2:227917105:C>A,NM_000092.4:c.2884G>T,NP_000083.3:p.Glu962Ter,32/48,\N,Pathogenic,Alport syndrome,stop_gained,40,\N,\N,COL4A4
467080,2:227917107:T>C,NM_000092.4:c.2882A>G,NP_000083.3:p.Asp961Gly,32/48,\N,Likely benign,\N,missense_variant,20.8,0.0000607903,EXAC_SAS_AF,COL4A4
467081,2:227917108:C>G,NM_000092.4:c.2881G>C,NP_000083.3:p.Asp961His,32/48,\N,Likely benign,\N,missense_variant,22.7,0.0000149993,EXAC_NFE_AF,COL4A4
467082,2:227917111:C>T,NM_000092.4:c.2878G>A,NP_000083.3:p.Gly960Arg,32/48,\N,Pathogenic,Benign haematuria,missense_variant,25.8,\N,\N,COL4A4
467083,2:227917112:G>A,NM_000092.4:c.2877C>T,NP_000083.3:p.Pro959=,32/48,\N,Benign,\N,synonymous_variant,7.343,0.0119,1KG_EAS_AF,COL4A4
467084,2:227917117:G>C,NM_000092.4:c.2872C>G,NP_000083.3:p.Pro958Ala,32/48,\N,Pathogenic,Deafness,missense_variant,4.83,\N,\N,COL4A4
467085,2:227917119:C>T,NM_000092.4:c.2870G>A,NP_000083.3:p.Gly957Glu,32/48,\N,Pathogenic,Benign haematuria,missense_variant,24,\N,\N,COL4A4
467086,2:227917120:C>G,NM_000092.4:c.2869G>C,NP_000083.3:p.Gly957Arg,32/48,\N,Pathogenic,Alport syndrome,missense_variant,24,\N,\N,COL4A4
467087,2:227917133:G>A,NM_000092.4:c.2861-5C>T,\N,\N,31/47,Unknown significance,\N,splice_region_variant&intron_variant,3.686,0.000116822,EXAC_EAS_AF,COL4A4
467088,2:227917145:T>C,NM_000092.4:c.2861-17A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,1.208,0.0000622665,EXAC_SAS_AF,COL4A4
467089,2:227917153:C>A,NM_000092.4:c.2861-25G>T,\N,\N,31/47,Unknown significance,\N,intron_variant,4.371,0.000015361,EXAC_NFE_AF,COL4A4
467090,2:227917157:A>G,NM_000092.4:c.2861-29T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,1.079,0.000118963,EXAC_EAS_AF,COL4A4
467091,2:227917171:C>A,NM_000092.4:c.2861-43G>T,\N,\N,31/47,Unknown significance,\N,intron_variant,4.817,0.000121271,EXAC_EAS_AF,COL4A4
467092,2:227917177:CA>C,NM_000092.4:c.2861-50del,\N,\N,31/47,Unknown significance,\N,intron_variant,6.02,0.000104866,EXAC_AFR_AF,COL4A4
467093,2:227917178:A>G,NM_000092.4:c.2861-50T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,1.235,0.0014,1KG_AMR_AF,COL4A4
467094,2:227917240:C>G,NM_000092.4:c.2861-112G>C,\N,\N,31/47,Benign,\N,intron_variant,2.535,0.637,1KG_SAS_AF,COL4A4
467095,2:227917270:T>C,NM_000092.4:c.2861-142A>G,\N,\N,31/47,Benign,\N,intron_variant,3.821,0.637,1KG_SAS_AF,COL4A4
467096,2:227917310:G>A,NM_000092.4:c.2861-182C>T,\N,\N,31/47,Benign,\N,intron_variant,2.032,0.0089,1KG_EUR_AF,COL4A4
467097,2:227917323:T>C,NM_000092.4:c.2861-195A>G,\N,\N,31/47,Benign,\N,intron_variant,3.098,0.637,1KG_SAS_AF,COL4A4
467098,2:227917348:G>A,NM_000092.4:c.2861-220C>T,\N,\N,31/47,Benign,\N,intron_variant,2.544,0.2973,1KG_AFR_AF,COL4A4
467099,2:227917353:G>A,NM_000092.4:c.2861-225C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,4.84,0.001,1KG_SAS_AF,COL4A4
467100,2:227917386:A>T,NM_000092.4:c.2861-258T>A,\N,\N,31/47,Unknown significance,\N,intron_variant,5.268,\N,\N,COL4A4
467101,2:227917408:G>T,NM_000092.4:c.2861-280C>A,\N,\N,31/47,Benign,\N,intron_variant,1.924,0.006,1KG_EUR_AF,COL4A4
467102,2:227917437:T>TA,NM_000092.4:c.2861-310dup,\N,\N,31/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467103,2:227917438:A>AC,NM_000092.4:c.2861-311_2861-310insG,\N,\N,31/47,Benign,\N,intron_variant,2.494,0.9871,1KG_EAS_AF,COL4A4
467104,2:227917439:A>AC,NM_000092.4:c.2861-312_2861-311insG,\N,\N,31/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467105,2:227917439:A>C,NM_000092.4:c.2861-311T>G,\N,\N,31/47,Unknown significance,\N,intron_variant,1.833,\N,\N,COL4A4
467106,2:227917462:A>T,NM_000092.4:c.2861-334T>A,\N,\N,31/47,Unknown significance,\N,intron_variant,4.003,0.0008,1KG_AFR_AF,COL4A4
467107,2:227917465:T>C,NM_000092.4:c.2861-337A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,2.239,\N,\N,COL4A4
467108,2:227917526:T>C,NM_000092.4:c.2861-398A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,9.792,0.0015,1KG_AFR_AF,COL4A4
467109,2:227917532:A>G,NM_000092.4:c.2861-404T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.363,0.001,1KG_SAS_AF,COL4A4
467110,2:227917546:G>A,NM_000092.4:c.2861-418C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,2.1,0.0008,1KG_AFR_AF,COL4A4
467111,2:227917578:G>A,NM_000092.4:c.2861-450C>T,\N,\N,31/47,Benign,\N,intron_variant,1.903,0.2292,1KG_AFR_AF,COL4A4
467112,2:227917605:C>G,NM_000092.4:c.2861-477G>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.122,\N,\N,COL4A4
467113,2:227917605:C>T,NM_000092.4:c.2861-477G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,0.258,0.0023,1KG_AFR_AF,COL4A4
467114,2:227917606:G>A,NM_000092.4:c.2861-478C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,0.535,0.001,1KG_EUR_AF,COL4A4
467115,2:227917657:G>A,NM_000092.4:c.2861-529C>T,\N,\N,31/47,Benign,\N,intron_variant,0.417,0.0076,1KG_AFR_AF,COL4A4
467116,2:227917657:G>C,NM_000092.4:c.2861-529C>G,\N,\N,31/47,Unknown significance,\N,intron_variant,0.063,\N,\N,COL4A4
467117,2:227917677:C>G,NM_000092.4:c.2861-549G>C,\N,\N,31/47,Benign,\N,intron_variant,0.795,0.0389,1KG_SAS_AF,COL4A4
467118,2:227917679:A>T,NM_000092.4:c.2861-551T>A,\N,\N,31/47,Unknown significance,\N,intron_variant,2.592,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
467119,2:227917725:C>T,NM_000092.4:c.2861-597G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,4.11,0.001,1KG_EUR_AF,COL4A4
467120,2:227917726:C>A,NM_000092.4:c.2861-598G>T,\N,\N,31/47,Unknown significance,\N,intron_variant,4.308,\N,\N,COL4A4
467121,2:227917726:C>G,NM_000092.4:c.2861-598G>C,\N,\N,31/47,Benign,\N,intron_variant,1.976,0.637,1KG_SAS_AF,COL4A4
467122,2:227917728:T>C,NM_000092.4:c.2861-600A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,1.679,0.001,1KG_SAS_AF,COL4A4
467123,2:227917795:C>T,NM_000092.4:c.2861-667G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,1.338,0.001,1KG_EAS_AF,COL4A4
467124,2:227917800:C>CTT,NM_000092.4:c.2861-674_2861-673dup,\N,\N,31/47,Benign,\N,intron_variant,4.056,0.2269,1KG_AFR_AF,COL4A4
467125,2:227917800:CT>C,NM_000092.4:c.2861-673del,\N,\N,31/47,Unknown significance,\N,intron_variant,3.115,\N,\N,COL4A4
467126,2:227917821:G>A,NM_000092.4:c.2861-693C>T,\N,\N,31/47,Benign,\N,intron_variant,5.11,0.0159,1KG_EUR_AF,COL4A4
467127,2:227917839:A>C,NM_000092.4:c.2861-711T>G,\N,\N,31/47,Benign,\N,intron_variant,5.556,0.0219,1KG_AFR_AF,COL4A4
467128,2:227917839:A>G,NM_000092.4:c.2861-711T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,7.182,\N,\N,COL4A4
467129,2:227917843:C>T,NM_000092.4:c.2861-715G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,10.51,0.001,1KG_EUR_AF,COL4A4
467130,2:227917885:T>C,NM_000092.4:c.2861-757A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,5.897,0.001,1KG_EUR_AF,COL4A4
467131,2:227917919:T>C,NM_000092.4:c.2861-791A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,7.974,0.002,1KG_EUR_AF,COL4A4
467132,2:227917924:T>A,NM_000092.4:c.2861-796A>T,\N,\N,31/47,Unknown significance,\N,intron_variant,7.889,\N,\N,COL4A4
467133,2:227917934:T>C,NM_000092.4:c.2861-806A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,2.531,\N,\N,COL4A4
467134,2:227917937:CTCTTTGAT>C,NM_000092.4:c.2861-817_2861-810del,\N,\N,31/47,Benign,\N,intron_variant,3.392,0.4898,1KG_SAS_AF,COL4A4
467135,2:227917945:T>C,NM_000092.4:c.2861-817A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,3.198,\N,\N,COL4A4
467136,2:227918079:T>C,NM_000092.4:c.2861-951A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,12.7,\N,\N,COL4A4
467137,2:227918113:C>T,NM_000092.4:c.2861-985G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,12.04,0.0008,1KG_AFR_AF,COL4A4
467138,2:227918146:A>T,NM_000092.4:c.2861-1018T>A,\N,\N,31/47,Benign,\N,intron_variant,0.722,0.637,1KG_SAS_AF,COL4A4
467139,2:227918149:C>T,NM_000092.4:c.2861-1021G>A,\N,\N,31/47,Benign,\N,intron_variant,2.459,0.0212,1KG_AFR_AF,COL4A4
467140,2:227918166:G>A,NM_000092.4:c.2861-1038C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,2.061,\N,\N,COL4A4
467141,2:227918195:T>C,NM_000092.4:c.2861-1067A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,0.931,0.001,1KG_EAS_AF,COL4A4
467142,2:227918259:C>T,NM_000092.4:c.2860+1051G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,1.031,\N,\N,COL4A4
467143,2:227918259:CT>C,NM_000092.4:c.2860+1050del,\N,\N,31/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467144,2:227918259:CTTT>C,NM_000092.4:c.2860+1048_2860+1050del,\N,\N,31/47,Unknown significance,\N,intron_variant,2.95,\N,\N,COL4A4
467145,2:227918264:T>TC,NM_000092.4:c.2860+1045_2860+1046insG,\N,\N,31/47,Unknown significance,\N,intron_variant,0.269,\N,\N,COL4A4
467146,2:227918295:A>G,NM_000092.4:c.2860+1015T>C,\N,\N,31/47,Benign,\N,intron_variant,0.128,0.0507,1KG_AFR_AF,COL4A4
467147,2:227918315:G>A,NM_000092.4:c.2860+995C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,0.933,0.001,1KG_EAS_AF,COL4A4
467148,2:227918326:T>C,NM_000092.4:c.2860+984A>G,\N,\N,31/47,Benign,\N,intron_variant,0.175,0.638,1KG_SAS_AF,COL4A4
467149,2:227918330:C>G,NM_000092.4:c.2860+980G>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.736,\N,\N,COL4A4
467150,2:227918451:GAC>G,NM_000092.4:c.2860+857_2860+858del,\N,\N,31/47,Benign,\N,intron_variant,0.961,0.0507,1KG_AFR_AF,COL4A4
467151,2:227918455:G>T,NM_000092.4:c.2860+855C>A,\N,\N,31/47,Benign,\N,intron_variant,0.716,0.0507,1KG_AFR_AF,COL4A4
467152,2:227918461:C>T,NM_000092.4:c.2860+849G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,1.221,0.003,1KG_EAS_AF,COL4A4
467153,2:227918464:C>T,NM_000092.4:c.2860+846G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,0.191,\N,\N,COL4A4
467154,2:227918465:G>A,NM_000092.4:c.2860+845C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,0.082,0.0015,1KG_AFR_AF,COL4A4
467155,2:227918465:G>T,NM_000092.4:c.2860+845C>A,\N,\N,31/47,Unknown significance,\N,intron_variant,0.036,\N,\N,COL4A4
467156,2:227918483:C>G,NM_000092.4:c.2860+827G>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.108,0.002,1KG_EAS_AF,COL4A4
467157,2:227918498:A>G,NM_000092.4:c.2860+812T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.243,\N,\N,COL4A4
467158,2:227918509:G>A,NM_000092.4:c.2860+801C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,0.014,0.001,1KG_SAS_AF,COL4A4
467159,2:227918513:C>T,NM_000092.4:c.2860+797G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,0.458,\N,\N,COL4A4
467160,2:227918514:G>A,NM_000092.4:c.2860+796C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,1.61,0.0008,1KG_AFR_AF,COL4A4
467161,2:227918568:CT>C,NM_000092.4:c.2860+741del,\N,\N,31/47,Benign,\N,intron_variant,2.231,0.0688,1KG_AFR_AF,COL4A4
467162,2:227918581:A>G,NM_000092.4:c.2860+729T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,4.894,\N,\N,COL4A4
467163,2:227918588:T>C,NM_000092.4:c.2860+722A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,5.155,\N,\N,COL4A4
467164,2:227918604:C>T,NM_000092.4:c.2860+706G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,3.29,0.001,1KG_EUR_AF,COL4A4
467165,2:227918621:T>A,NM_000092.4:c.2860+689A>T,\N,\N,31/47,Unknown significance,\N,intron_variant,7.171,\N,\N,COL4A4
467166,2:227918644:T>G,NM_000092.4:c.2860+666A>C,\N,\N,31/47,Benign,\N,intron_variant,5.018,0.0696,1KG_AFR_AF,COL4A4
467167,2:227918679:C>T,NM_000092.4:c.2860+631G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,4.891,0.0023,1KG_AFR_AF,COL4A4
467168,2:227918680:T>C,NM_000092.4:c.2860+630A>G,\N,\N,31/47,Benign,\N,intron_variant,2.976,0.056,1KG_AFR_AF,COL4A4
467169,2:227918681:G>A,NM_000092.4:c.2860+629C>T,\N,\N,31/47,Benign,\N,intron_variant,2.909,0.0159,1KG_EAS_AF,COL4A4
467170,2:227918682:C>A,NM_000092.4:c.2860+628G>T,\N,\N,31/47,Unknown significance,\N,intron_variant,4.46,\N,\N,COL4A4
467171,2:227918708:C>T,NM_000092.4:c.2860+602G>A,\N,\N,31/47,Unknown significance,\N,intron_variant,0.365,\N,\N,COL4A4
467172,2:227918709:G>A,NM_000092.4:c.2860+601C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,3.785,0.0014,1KG_AMR_AF,COL4A4
467173,2:227918714:A>AT,NM_000092.4:c.2860+595dup,\N,\N,31/47,Benign,\N,intron_variant,0.156,0.0356,1KG_AFR_AF,COL4A4
467174,2:227918721:C>A,NM_000092.4:c.2860+589G>T,\N,\N,31/47,Benign,\N,intron_variant,1.716,0.0507,1KG_AFR_AF,COL4A4
467175,2:227918738:G>C,NM_000092.4:c.2860+572C>G,\N,\N,31/47,Unknown significance,\N,intron_variant,0.236,0.001,1KG_EUR_AF,COL4A4
467176,2:227918769:A>G,NM_000092.4:c.2860+541T>C,\N,\N,31/47,Benign,\N,intron_variant,0.841,0.0507,1KG_AFR_AF,COL4A4
467177,2:227918792:T>G,NM_000092.4:c.2860+518A>C,\N,\N,31/47,Benign,\N,intron_variant,10.08,0.005,1KG_EAS_AF,COL4A4
467178,2:227918820:T>G,NM_000092.4:c.2860+490A>C,\N,\N,31/47,Unknown significance,\N,intron_variant,2.946,\N,\N,COL4A4
467179,2:227918829:A>G,NM_000092.4:c.2860+481T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,0.947,0.0008,1KG_AFR_AF,COL4A4
467180,2:227918872:A>G,NM_000092.4:c.2860+438T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,3.084,0.004,1KG_EUR_AF,COL4A4
467181,2:227918882:A>G,NM_000092.4:c.2860+428T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,1.872,0.002,1KG_SAS_AF,COL4A4
467182,2:227918896:G>A,NM_000092.4:c.2860+414C>T,\N,\N,31/47,Benign,\N,intron_variant,0.785,0.0507,1KG_AFR_AF,COL4A4
467183,2:227918899:G>T,NM_000092.4:c.2860+411C>A,\N,\N,31/47,Benign,\N,intron_variant,1.659,0.637,1KG_SAS_AF,COL4A4
467184,2:227918910:C>A,NM_000092.4:c.2860+400G>T,\N,\N,31/47,Benign,\N,intron_variant,2.294,0.0507,1KG_AFR_AF,COL4A4
467185,2:227918935:G>A,NM_000092.4:c.2860+375C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,3.523,0.001,1KG_EUR_AF,COL4A4
467186,2:227918962:G>A,NM_000092.4:c.2860+348C>T,\N,\N,31/47,Benign,\N,intron_variant,3.249,0.637,1KG_SAS_AF,COL4A4
467187,2:227919001:A>G,NM_000092.4:c.2860+309T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,1.905,0.0008,1KG_AFR_AF,COL4A4
467188,2:227919038:T>C,NM_000092.4:c.2860+272A>G,\N,\N,31/47,Benign,\N,intron_variant,6.848,0.0507,1KG_AFR_AF,COL4A4
467189,2:227919086:T>C,NM_000092.4:c.2860+224A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,5.009,0.0008,1KG_AFR_AF,COL4A4
467190,2:227919121:T>C,NM_000092.4:c.2860+189A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,2.025,\N,\N,COL4A4
467191,2:227919126:G>A,NM_000092.4:c.2860+184C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,0.825,\N,\N,COL4A4
467192,2:227919141:G>T,NM_000092.4:c.2860+169C>A,\N,\N,31/47,Benign,\N,intron_variant,0.705,0.0507,1KG_AFR_AF,COL4A4
467193,2:227919152:T>G,NM_000092.4:c.2860+158A>C,\N,\N,31/47,Benign,\N,intron_variant,3.344,0.2315,1KG_AFR_AF,COL4A4
467194,2:227919260:G>C,NM_000092.4:c.2860+50C>G,\N,\N,31/47,Unknown significance,\N,intron_variant,0.234,0.000349325,EXAC_EAS_AF,COL4A4
467195,2:227919267:A>G,NM_000092.4:c.2860+43T>C,\N,\N,31/47,Unknown significance,\N,intron_variant,2.239,0.0000149966,EXAC_NFE_AF,COL4A4
467196,2:227919289:G>A,NM_000092.4:c.2860+21C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,2.203,0.00023245,EXAC_EAS_AF,COL4A4
467197,2:227919297:G>A,NM_000092.4:c.2860+13C>T,\N,\N,31/47,Unknown significance,\N,intron_variant,1.896,0.00040833,EXAC_AFR_AF,COL4A4
467198,2:227919298:T>C,NM_000092.4:c.2860+12A>G,\N,\N,31/47,Unknown significance,\N,intron_variant,0.94,0.000121418,EVS_EA_AF,COL4A4
467199,2:227919308:A>C,NM_000092.4:c.2860+2T>G,\N,\N,31/47,Pathogenic,Benign haematuria,splice_donor_variant,21.1,\N,\N,COL4A4
467200,2:227919315:G>A,NM_000092.4:c.2855C>T,NP_000083.3:p.Ala952Val,31/48,\N,Likely benign,\N,missense_variant,8.102,0.0000605914,EXAC_SAS_AF,COL4A4
467201,2:227919317:C>A,NM_000092.4:c.2853G>T,NP_000083.3:p.Gly951=,31/48,\N,Unknown significance,\N,synonymous_variant,10.56,0.0000149862,EXAC_NFE_AF,COL4A4
467202,2:227919317:C>G,NM_000092.4:c.2853G>C,NP_000083.3:p.Gly951=,31/48,\N,Unknown significance,\N,synonymous_variant,5.47,0.0000864454,EXAC_AMR_AF,COL4A4
467203,2:227919324:A>C,NM_000092.4:c.2846T>G,NP_000083.3:p.Leu949Arg,31/48,\N,Likely benign,\N,missense_variant,0.879,\N,\N,COL4A4
467204,2:227919324:A>G,NM_000092.4:c.2846T>C,NP_000083.3:p.Leu949Pro,31/48,\N,Likely benign,\N,missense_variant,6.09,0.0000864155,EXAC_AMR_AF,COL4A4
467205,2:227919327:C>A,NM_000092.4:c.2843G>T,NP_000083.3:p.Gly948Val,31/48,\N,Unknown significance,\N,missense_variant,23.3,0.0000149849,EXAC_NFE_AF,COL4A4
467206,2:227919330:C>T,NM_000092.4:c.2840G>A,NP_000083.3:p.Arg947Gln,31/48,\N,Likely benign,\N,missense_variant,0.01,0.000612245,EXAC_AFR_AF,COL4A4
467207,2:227919331:G>A,NM_000092.4:c.2839C>T,NP_000083.3:p.Arg947Trp,31/48,\N,Unknown significance,\N,missense_variant,22.4,0.0041,1KG_SAS_AF,COL4A4
467208,2:227919351:A>G,NM_000092.4:c.2819T>C,NP_000083.3:p.Met940Thr,31/48,\N,Likely benign,\N,missense_variant,0.033,0.000060562,EXAC_SAS_AF,COL4A4
467209,2:227919359:C>T,NM_000092.4:c.2811G>A,NP_000083.3:p.Glu937=,31/48,\N,Unknown significance,\N,synonymous_variant,8.802,0.0000149849,EXAC_NFE_AF,COL4A4
467210,2:227919366:G>A,NM_000092.4:c.2804C>T,NP_000083.3:p.Pro935Leu,31/48,\N,Likely benign,\N,missense_variant,0.003,0.001,1KG_EUR_AF,COL4A4
467211,2:227919373:C>G,NM_000092.4:c.2797G>C,NP_000083.3:p.Gly933Arg,31/48,\N,Unknown significance,\N,missense_variant,23.6,0.0000864454,EXAC_AMR_AF,COL4A4
467212,2:227919374:C>T,NM_000092.4:c.2796G>A,NP_000083.3:p.Lys932=,31/48,\N,Benign,\N,synonymous_variant,11.24,0.0507,1KG_AFR_AF,COL4A4
467213,2:227919379:C>A,NM_000092.4:c.2791G>T,NP_000083.3:p.Ala931Ser,31/48,\N,Likely benign,\N,missense_variant,8.459,0.0000149853,EXAC_NFE_AF,COL4A4
467214,2:227919379:C>T,NM_000092.4:c.2791G>A,NP_000083.3:p.Ala931Thr,31/48,\N,Benign,\N,missense_variant,12.16,0.0507,1KG_AFR_AF,COL4A4
467215,2:227919380:G>A,NM_000092.4:c.2790C>T,NP_000083.3:p.Gly930=,31/48,\N,Unknown significance,\N,synonymous_variant,9.22,0.000060584,EXAC_SAS_AF,COL4A4
467216,2:227919380:G>T,NM_000092.4:c.2790C>A,NP_000083.3:p.Gly930=,31/48,\N,Unknown significance,\N,synonymous_variant,7.173,0.0000299715,EXAC_NFE_AF,COL4A4
467217,2:227919382:C>T,NM_000092.4:c.2788G>A,NP_000083.3:p.Gly930Ser,31/48,\N,Unknown significance,\N,missense_variant,23.7,0.0000149862,EXAC_NFE_AF,COL4A4
467218,2:227919394:C>T,NM_000092.4:c.2776G>A,NP_000083.3:p.Glu926Lys,31/48,\N,Likely benign,\N,missense_variant,7.999,0.000510412,EXAC_AFR_AF,COL4A4
467219,2:227919404:C>T,NM_000092.4:c.2766G>A,NP_000083.3:p.Lys922=,31/48,\N,Unknown significance,\N,synonymous_variant,14.66,0.000122309,EVS_EA_AF,COL4A4
467220,2:227919414:T>C,NM_000092.4:c.2756A>G,NP_000083.3:p.Glu919Gly,31/48,\N,Likely benign,\N,missense_variant,21.4,0.0000903642,EXAC_NFE_AF,COL4A4
467221,2:227919418:C>T,NM_000092.4:c.2752G>A,NP_000083.3:p.Gly918Arg,31/48,\N,Pathogenic,Alport syndrome,missense_variant,27.2,0.000116877,EXAC_EAS_AF,COL4A4
467222,2:227919419:G>A,NM_000092.4:c.2751C>T,NP_000083.3:p.Pro917=,31/48,\N,Unknown significance,\N,synonymous_variant,12.6,0.0014,1KG_AMR_AF,COL4A4
467223,2:227919419:G>T,NM_000092.4:c.2751C>A,NP_000083.3:p.Pro917=,31/48,\N,Unknown significance,\N,synonymous_variant,10.85,0.0000872144,EXAC_AMR_AF,COL4A4
467224,2:227919425:AC>A,NM_000092.4:c.2744del,NP_000083.3:p.Gly915ValfsTer35,31/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
467225,2:227919438:G>C,NM_000092.4:c.2732C>G,NP_000083.3:p.Pro911Arg,31/48,\N,Unknown significance,\N,missense_variant,20.8,0.000119218,EXAC_EAS_AF,COL4A4
467226,2:227919443:C>T,NM_000092.4:c.2727G>A,NP_000083.3:p.Gly909=,31/48,\N,Unknown significance,\N,synonymous_variant,14.79,0.0008,1KG_AFR_AF,COL4A4
467227,2:227919447:C>T,NM_000092.4:c.2723G>A,NP_000083.3:p.Arg908Gln,31/48,\N,Likely benign,\N,missense_variant,4.753,0.000775434,EXAC_FIN_AF,COL4A4
467228,2:227919448:G>A,NM_000092.4:c.2722C>T,NP_000083.3:p.Arg908Trp,31/48,\N,Unknown significance,\N,missense_variant,23.8,0.00036324,EXAC_AMR_AF,COL4A4
467229,2:227919449:G>A,NM_000092.4:c.2721C>T,NP_000083.3:p.Pro907=,31/48,\N,Unknown significance,\N,synonymous_variant,1.199,\N,\N,COL4A4
467230,2:227919451:G>A,NM_000092.4:c.2719C>T,NP_000083.3:p.Pro907Ser,31/48,\N,Likely benign,\N,missense_variant&splice_region_variant,6.614,0.0000636456,EXAC_SAS_AF,COL4A4
467231,2:227919451:GT>G,NM_000092.4:c.2718del,NP_000083.3:p.Arg908GlyfsTer42,31/48,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,23.6,0.0000160498,EXAC_NFE_AF,COL4A4
467232,2:227919455:T>C,NM_000092.4:c.2717-2A>G,\N,\N,30/47,Pathogenic,Alport syndrome,splice_acceptor_variant,23,\N,\N,COL4A4
467233,2:227919456:G>A,NM_000092.4:c.2717-3C>T,\N,\N,30/47,Unknown significance,\N,splice_region_variant&intron_variant,8.577,0.000122639,EVS_EA_AF,COL4A4
467234,2:227919458:T>A,NM_000092.4:c.2717-5A>T,\N,\N,30/47,Benign,\N,splice_region_variant&intron_variant,1.448,0.0199,1KG_EUR_AF,COL4A4
467235,2:227919468:G>T,NM_000092.4:c.2717-15C>A,\N,\N,30/47,Benign,\N,intron_variant,0.165,0.0091,1KG_AFR_AF,COL4A4
467236,2:227919469:C>T,NM_000092.4:c.2717-16G>A,\N,\N,30/47,Benign,\N,intron_variant,1.384,0.0091,1KG_AFR_AF,COL4A4
467237,2:227919470:A>G,NM_000092.4:c.2717-17T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,1.611,0.00400593,EXAC_EAS_AF,COL4A4
467238,2:227919472:A>G,NM_000092.4:c.2717-19T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,0.062,0.0014,1KG_AMR_AF,COL4A4
467239,2:227919489:T>C,NM_000092.4:c.2717-36A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,1.831,0.0000824131,EXAC_SAS_AF,COL4A4
467240,2:227919495:T>C,NM_000092.4:c.2717-42A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,0.814,\N,\N,COL4A4
467241,2:227919497:G>C,NM_000092.4:c.2717-44C>G,\N,\N,30/47,Unknown significance,\N,intron_variant,0.052,\N,\N,COL4A4
467242,2:227919527:A>G,NM_000092.4:c.2717-74T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,1.929,\N,\N,COL4A4
467243,2:227919574:C>T,NM_000092.4:c.2717-121G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.248,\N,\N,COL4A4
467244,2:227919575:G>A,NM_000092.4:c.2717-122C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,1.088,\N,\N,COL4A4
467245,2:227919580:A>G,NM_000092.4:c.2717-127T>C,\N,\N,30/47,Benign,\N,intron_variant,0.586,0.0219,1KG_AFR_AF,COL4A4
467246,2:227919609:A>G,NM_000092.4:c.2717-156T>C,\N,\N,30/47,Benign,\N,intron_variant,0.697,0.8396,1KG_AFR_AF,COL4A4
467247,2:227919630:C>T,NM_000092.4:c.2717-177G>A,\N,\N,30/47,Benign,\N,intron_variant,0.38,0.637,1KG_SAS_AF,COL4A4
467248,2:227919635:A>G,NM_000092.4:c.2717-182T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,2.508,0.002,1KG_SAS_AF,COL4A4
467249,2:227919646:C>G,NM_000092.4:c.2717-193G>C,\N,\N,30/47,Unknown significance,\N,intron_variant,0.866,\N,\N,COL4A4
467250,2:227919651:G>A,NM_000092.4:c.2717-198C>T,\N,\N,30/47,Benign,\N,intron_variant,0.909,0.0552,1KG_AFR_AF,COL4A4
467251,2:227919668:G>A,NM_000092.4:c.2717-215C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,0.057,0.001,1KG_SAS_AF,COL4A4
467252,2:227919695:G>A,NM_000092.4:c.2717-242C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,7.542,0.001,1KG_EAS_AF,COL4A4
467253,2:227919725:C>G,NM_000092.4:c.2717-272G>C,\N,\N,30/47,Unknown significance,\N,intron_variant,10.59,0.0014,1KG_AMR_AF,COL4A4
467254,2:227919737:C>T,NM_000092.4:c.2717-284G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,12.39,0.0008,1KG_AFR_AF,COL4A4
467255,2:227919760:C>T,NM_000092.4:c.2717-307G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.938,\N,\N,COL4A4
467256,2:227919788:G>A,NM_000092.4:c.2717-335C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,4.827,\N,\N,COL4A4
467257,2:227919822:C>T,NM_000092.4:c.2717-369G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,2.956,0.001,1KG_SAS_AF,COL4A4
467258,2:227919859:G>A,NM_000092.4:c.2717-406C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,1.089,\N,\N,COL4A4
467259,2:227919894:A>T,NM_000092.4:c.2717-441T>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.443,\N,\N,COL4A4
467260,2:227919950:G>C,NM_000092.4:c.2717-497C>G,\N,\N,30/47,Benign,\N,intron_variant,0.378,0.1967,1KG_AFR_AF,COL4A4
467261,2:227919958:C>T,NM_000092.4:c.2717-505G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,0.011,0.001,1KG_SAS_AF,COL4A4
467262,2:227919959:G>A,NM_000092.4:c.2717-506C>T,\N,\N,30/47,Benign,\N,intron_variant,1.178,0.0083,1KG_AFR_AF,COL4A4
467263,2:227920013:G>A,NM_000092.4:c.2717-560C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,1.612,0.001,1KG_SAS_AF,COL4A4
467264,2:227920050:G>A,NM_000092.4:c.2717-597C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,0.955,0.002,1KG_SAS_AF,COL4A4
467265,2:227920064:T>TA,NM_000092.4:c.2716+596dup,\N,\N,30/47,Benign,\N,intron_variant,0.712,0.5798,1KG_SAS_AF,COL4A4
467266,2:227920085:G>A,NM_000092.4:c.2716+576C>T,\N,\N,30/47,Benign,\N,intron_variant,0.123,0.0877,1KG_AFR_AF,COL4A4
467267,2:227920116:T>C,NM_000092.4:c.2716+545A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,2.415,0.002,1KG_EUR_AF|1KG_SAS_AF,COL4A4
467268,2:227920151:C>T,NM_000092.4:c.2716+510G>A,\N,\N,30/47,Benign,\N,intron_variant,7.534,0.0219,1KG_AFR_AF,COL4A4
467269,2:227920181:A>T,NM_000092.4:c.2716+480T>A,\N,\N,30/47,Unknown significance,\N,intron_variant,11.8,0.001,1KG_EUR_AF,COL4A4
467270,2:227920204:C>T,NM_000092.4:c.2716+457G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.2,\N,\N,COL4A4
467271,2:227920220:AT>A,NM_000092.4:c.2716+440del,\N,\N,30/47,Unknown significance,\N,intron_variant,0.53,\N,\N,COL4A4
467272,2:227920221:T>A,NM_000092.4:c.2716+440A>T,\N,\N,30/47,Unknown significance,\N,intron_variant,2.98,0.0015,1KG_AFR_AF,COL4A4
467273,2:227920254:T>G,NM_000092.4:c.2716+407A>C,\N,\N,30/47,Unknown significance,\N,intron_variant,0.049,\N,\N,COL4A4
467274,2:227920267:C>T,NM_000092.4:c.2716+394G>A,\N,\N,30/47,Benign,\N,intron_variant,1.567,0.4463,1KG_AFR_AF,COL4A4
467275,2:227920268:G>A,NM_000092.4:c.2716+393C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,1.208,0.003,1KG_EAS_AF,COL4A4
467276,2:227920270:C>A,NM_000092.4:c.2716+391G>T,\N,\N,30/47,Benign,\N,intron_variant,2.133,0.0092,1KG_SAS_AF,COL4A4
467277,2:227920292:C>T,NM_000092.4:c.2716+369G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,0.872,\N,\N,COL4A4
467278,2:227920303:T>C,NM_000092.4:c.2716+358A>G,\N,\N,30/47,Benign,\N,intron_variant,2.883,0.0388,1KG_EUR_AF,COL4A4
467279,2:227920331:T>G,NM_000092.4:c.2716+330A>C,\N,\N,30/47,Benign,\N,intron_variant,5.638,0.0174,1KG_AFR_AF,COL4A4
467280,2:227920340:A>T,NM_000092.4:c.2716+321T>A,\N,\N,30/47,Benign,\N,intron_variant,1.321,0.0227,1KG_AFR_AF,COL4A4
467281,2:227920342:G>T,NM_000092.4:c.2716+319C>A,\N,\N,30/47,Unknown significance,\N,intron_variant,0.226,0.001,1KG_SAS_AF,COL4A4
467282,2:227920351:A>G,NM_000092.4:c.2716+310T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,1.261,\N,\N,COL4A4
467283,2:227920393:C>A,NM_000092.4:c.2716+268G>T,\N,\N,30/47,Unknown significance,\N,intron_variant,1.47,\N,\N,COL4A4
467284,2:227920393:C>T,NM_000092.4:c.2716+268G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.64,0.0015,1KG_AFR_AF,COL4A4
467285,2:227920404:G>A,NM_000092.4:c.2716+257C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,3.007,0.0008,1KG_AFR_AF,COL4A4
467286,2:227920409:C>T,NM_000092.4:c.2716+252G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,3.793,\N,\N,COL4A4
467287,2:227920410:C>T,NM_000092.4:c.2716+251G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.821,\N,\N,COL4A4
467288,2:227920411:G>A,NM_000092.4:c.2716+250C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,3.193,\N,\N,COL4A4
467289,2:227920440:C>G,NM_000092.4:c.2716+221G>C,\N,\N,30/47,Unknown significance,\N,intron_variant,4.221,\N,\N,COL4A4
467290,2:227920468:T>C,NM_000092.4:c.2716+193A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,1.923,\N,\N,COL4A4
467291,2:227920473:C>T,NM_000092.4:c.2716+188G>A,\N,\N,30/47,Benign,\N,intron_variant,2.78,0.0174,1KG_AFR_AF,COL4A4
467292,2:227920474:G>A,NM_000092.4:c.2716+187C>T,\N,\N,30/47,Benign,\N,intron_variant,0.931,0.6237,1KG_SAS_AF,COL4A4
467293,2:227920489:C>T,NM_000092.4:c.2716+172G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,1.392,\N,\N,COL4A4
467294,2:227920497:G>A,NM_000092.4:c.2716+164C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,5.853,0.0029,1KG_AMR_AF,COL4A4
467295,2:227920504:C>T,NM_000092.4:c.2716+157G>A,\N,\N,30/47,Unknown significance,\N,intron_variant,2.792,0.001,1KG_EAS_AF,COL4A4
467296,2:227920514:G>A,NM_000092.4:c.2716+147C>T,\N,\N,30/47,Unknown significance,\N,intron_variant,4.467,\N,\N,COL4A4
467297,2:227920519:G>C,NM_000092.4:c.2716+142C>G,\N,\N,30/47,Benign,\N,intron_variant,1.187,0.0356,1KG_AFR_AF,COL4A4
467298,2:227920530:G>T,NM_000092.4:c.2716+131C>A,\N,\N,30/47,Unknown significance,\N,intron_variant,0.617,\N,\N,COL4A4
467299,2:227920548:C>A,NM_000092.4:c.2716+113G>T,\N,\N,30/47,Unknown significance,\N,intron_variant,9.667,0.0014,1KG_AMR_AF,COL4A4
467300,2:227920614:T>C,NM_000092.4:c.2716+47A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,2.786,0.0000618123,EXAC_SAS_AF,COL4A4
467301,2:227920620:T>C,NM_000092.4:c.2716+41A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,5.89,0.0000150743,EXAC_NFE_AF,COL4A4
467302,2:227920625:A>G,NM_000092.4:c.2716+36T>C,\N,\N,30/47,Unknown significance,\N,intron_variant,5.597,0.0000616827,EXAC_SAS_AF,COL4A4
467303,2:227920642:T>C,NM_000092.4:c.2716+19A>G,\N,\N,30/47,Unknown significance,\N,intron_variant,1.373,0.000015058,EXAC_NFE_AF,COL4A4
467304,2:227920667:G>C,NM_000092.4:c.2710C>G,NP_000083.3:p.Pro904Ala,30/48,\N,Likely benign,\N,missense_variant,0.236,0.001,1KG_EAS_AF,COL4A4
467305,2:227920683:T>A,NM_000092.4:c.2694A>T,NP_000083.3:p.Leu898=,30/48,\N,Unknown significance,\N,synonymous_variant,2.629,0.0000300652,EXAC_NFE_AF,COL4A4
467306,2:227920687:C>T,NM_000092.4:c.2690G>A,NP_000083.3:p.Gly897Glu,30/48,\N,Pathogenic,Benign haematuria,missense_variant,23.2,\N,\N,COL4A4
467307,2:227920702:G>T,NM_000092.4:c.2675C>A,NP_000083.3:p.Pro892His,30/48,\N,Likely benign,\N,missense_variant,1.098,0.0000150403,EXAC_NFE_AF,COL4A4
467308,2:227920709:G>A,NM_000092.4:c.2668C>T,NP_000083.3:p.Pro890Ser,30/48,\N,Unknown significance,\N,missense_variant,17.19,0.00030281,EXAC_SAS_AF,COL4A4
467309,2:227920709:G>C,NM_000092.4:c.2668C>G,NP_000083.3:p.Pro890Ala,30/48,\N,Unknown significance,\N,missense_variant,18.56,0.000204918,EXAC_AFR_AF,COL4A4
467310,2:227920719:G>T,NM_000092.4:c.2658C>A,NP_000083.3:p.Leu886=,30/48,\N,Unknown significance,\N,synonymous_variant,0.932,0.001,1KG_SAS_AF,COL4A4
467311,2:227920722:G>T,NM_000092.4:c.2655C>A,NP_000083.3:p.Gly885=,30/48,\N,Unknown significance,\N,synonymous_variant,0.132,0.0000150602,EXAC_NFE_AF,COL4A4
467312,2:227920729:G>GGACCATGTGCCCCAGGCCGTCCTGGGA,NM_000092.4:c.2621_2647dup,NP_000083.3:p.Leu874_Gly882dup,30/48,\N,Unknown significance,\N,inframe_insertion,0.279,\N,\N,COL4A4
467313,2:227920730:G>A,NM_000092.4:c.2647C>T,NP_000083.3:p.Pro883Ser,30/48,\N,Likely benign,\N,missense_variant,6.029,0.00025956,EXAC_AMR_AF,COL4A4
467314,2:227920730:G>T,NM_000092.4:c.2647C>A,NP_000083.3:p.Pro883Thr,30/48,\N,Likely benign,\N,missense_variant,3.98,0.00164035,EXAC_AFR_AF,COL4A4
467315,2:227920738:G>T,NM_000092.4:c.2639C>A,NP_000083.3:p.Ala880Glu,30/48,\N,Unknown significance,\N,missense_variant,9.839,0.000060562,EXAC_SAS_AF,COL4A4
467316,2:227920738:GC>G,NM_000092.4:c.2638del,NP_000083.3:p.Ala880HisfsTer70,30/48,\N,Pathogenic,Alport syndrome,frameshift_variant,25,0.00020555,EXAC_AFR_AF,COL4A4
467317,2:227920741:C>T,NM_000092.4:c.2636G>A,NP_000083.3:p.Gly879Glu,30/48,\N,Pathogenic,Kidney disease,missense_variant,23.5,\N,\N,COL4A4
467318,2:227920743:A>G,NM_000092.4:c.2634T>C,NP_000083.3:p.Pro878=,30/48,\N,Unknown significance,\N,synonymous_variant,0.047,\N,\N,COL4A4
467319,2:227920747:C>T,NM_000092.4:c.2630G>A,NP_000083.3:p.Arg877Gln,30/48,\N,Benign,\N,missense_variant,9.424,0.0258,1KG_EAS_AF,COL4A4
467320,2:227920748:G>A,NM_000092.4:c.2629C>T,NP_000083.3:p.Arg877Trp,30/48,\N,Likely benign,\N,missense_variant,21.2,0.0008,1KG_AFR_AF,COL4A4
467321,2:227920749:T>C,NM_000092.4:c.2628A>G,NP_000083.3:p.Gly876=,30/48,\N,Unknown significance,\N,synonymous_variant,0.101,0.0000301395,EXAC_NFE_AF,COL4A4
467322,2:227920752:T>A,NM_000092.4:c.2625A>T,NP_000083.3:p.Pro875=,30/48,\N,Unknown significance,\N,synonymous_variant,4.795,0.0008,1KG_AFR_AF,COL4A4
467323,2:227920758:T>C,NM_000092.4:c.2619A>G,NP_000083.3:p.Gly873=,30/48,\N,Unknown significance,\N,synonymous_variant,0.655,0.000116306,EXAC_EAS_AF,COL4A4
467324,2:227920764:G>A,NM_000092.4:c.2613C>T,NP_000083.3:p.Leu871=,30/48,\N,Unknown significance,\N,synonymous_variant,4.355,0.0000300951,EXAC_NFE_AF,COL4A4
467325,2:227920767:G>T,NM_000092.4:c.2610C>A,NP_000083.3:p.Gly870=,30/48,\N,Unknown significance,\N,synonymous_variant,1.781,0.000116225,EXAC_EAS_AF,COL4A4
467326,2:227920769:C>G,NM_000092.4:c.2608G>C,NP_000083.3:p.Gly870Arg,30/48,\N,Pathogenic,Alport syndrome,missense_variant,24.5,\N,\N,COL4A4
467327,2:227920778:C>T,NM_000092.4:c.2599G>A,NP_000083.3:p.Gly867Arg,30/48,\N,Unknown significance,\N,missense_variant,25,0.000015043,EXAC_NFE_AF,COL4A4
467328,2:227920782:T>A,NM_000092.4:c.2595A>T,NP_000083.3:p.Pro865=,30/48,\N,Unknown significance,\N,synonymous_variant,10.55,0.0000864155,EXAC_AMR_AF,COL4A4
467329,2:227920784:G>T,NM_000092.4:c.2593C>A,NP_000083.3:p.Pro865Thr,30/48,\N,Unknown significance,\N,missense_variant,22.8,0.000015038,EXAC_NFE_AF,COL4A4
467330,2:227920787:C>A,NM_000092.4:c.2590G>T,NP_000083.3:p.Gly864Trp,30/48,\N,Pathogenic,Thin basement membrane disease,missense_variant,25.9,\N,\N,COL4A4
467331,2:227920787:C>T,NM_000092.4:c.2590G>A,NP_000083.3:p.Gly864Arg,30/48,\N,Pathogenic,Alport syndrome,missense_variant,24.9,\N,\N,COL4A4
467332,2:227920788:G>A,NM_000092.4:c.2589C>T,NP_000083.3:p.Pro863=,30/48,\N,Unknown significance,\N,synonymous_variant,6.538,0.000102543,EXAC_AFR_AF,COL4A4
467333,2:227920790:G>A,NM_000092.4:c.2587C>T,NP_000083.3:p.Pro863Ser,30/48,\N,Likely benign,\N,missense_variant,17.27,0.0000150376,EXAC_NFE_AF,COL4A4
467334,2:227920791:A>G,NM_000092.4:c.2586T>C,NP_000083.3:p.Pro862=,30/48,\N,Unknown significance,\N,synonymous_variant,1.889,0.000580855,EXAC_EAS_AF,COL4A4
467335,2:227920792:G>C,NM_000092.4:c.2585C>G,NP_000083.3:p.Pro862Arg,30/48,\N,Unknown significance,\N,missense_variant,8.222,0.000181686,EXAC_SAS_AF,COL4A4
467336,2:227920798:A>C,NM_000092.4:c.2579T>G,NP_000083.3:p.Val860Gly,30/48,\N,Likely benign,\N,missense_variant,0.004,0.000348513,EXAC_EAS_AF,COL4A4
467337,2:227920804:C>G,NM_000092.4:c.2573G>C,NP_000083.3:p.Gly858Ala,30/48,\N,Pathogenic,Alport syndrome,missense_variant,22.7,\N,\N,COL4A4
467338,2:227920806:C>T,NM_000092.4:c.2571G>A,NP_000083.3:p.Pro857=,30/48,\N,Unknown significance,\N,synonymous_variant,11.41,0.000116225,EXAC_EAS_AF,COL4A4
467339,2:227920807:G>A,NM_000092.4:c.2570C>T,NP_000083.3:p.Pro857Leu,30/48,\N,Likely benign,\N,missense_variant,0.015,0.001,1KG_EUR_AF,COL4A4
467340,2:227920820:C>T,NM_000092.4:c.2557G>A,NP_000083.3:p.Gly853Arg,30/48,\N,Likely benign,\N,missense_variant,13.81,0.000116171,EXAC_EAS_AF,COL4A4
467341,2:227920828:G>A,NM_000092.4:c.2549C>T,NP_000083.3:p.Ala850Val,30/48,\N,Likely benign,\N,missense_variant,13.95,0.000232342,EXAC_EAS_AF,COL4A4
467342,2:227920836:G>A,NM_000092.4:c.2546-5C>T,\N,\N,29/47,Unknown significance,\N,splice_region_variant&intron_variant,12.45,0.0000150394,EXAC_NFE_AF,COL4A4
467343,2:227920837:A>G,NM_000092.4:c.2546-6T>C,\N,\N,29/47,Unknown significance,\N,splice_region_variant&intron_variant,10.22,0.004,1KG_EAS_AF,COL4A4
467344,2:227920847:G>A,NM_000092.4:c.2546-16C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,10.76,0.000102775,EXAC_AFR_AF,COL4A4
467345,2:227920850:A>T,NM_000092.4:c.2546-19T>A,\N,\N,29/47,Unknown significance,\N,intron_variant,3.957,0.00111857,EXAC_OTH_AF,COL4A4
467346,2:227920851:C>G,NM_000092.4:c.2546-20G>C,\N,\N,29/47,Unknown significance,\N,intron_variant,2.135,\N,\N,COL4A4
467347,2:227920852:C>T,NM_000092.4:c.2546-21G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,3.989,0.0000605694,EXAC_SAS_AF,COL4A4
467348,2:227920855:A>T,NM_000092.4:c.2546-24T>A,\N,\N,29/47,Unknown significance,\N,intron_variant,1.084,\N,\N,COL4A4
467349,2:227920865:G>A,NM_000092.4:c.2546-34C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,2.976,0.0000150507,EXAC_NFE_AF,COL4A4
467350,2:227920866:G>C,NM_000092.4:c.2546-35C>G,\N,\N,29/47,Unknown significance,\N,intron_variant,0.291,0.0014,1KG_AMR_AF,COL4A4
467351,2:227920873:A>G,NM_000092.4:c.2546-42T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,9.882,0.00052356,EVS_AA_AF,COL4A4
467352,2:227920888:A>G,NM_000092.4:c.2546-57T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,10.78,0.0023,1KG_AFR_AF,COL4A4
467353,2:227920920:C>T,NM_000092.4:c.2546-89G>A,\N,\N,29/47,Benign,\N,intron_variant,0.584,0.0227,1KG_AFR_AF,COL4A4
467354,2:227920921:G>A,NM_000092.4:c.2546-90C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,0.611,\N,\N,COL4A4
467355,2:227920942:A>G,NM_000092.4:c.2546-111T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,1.238,0.001,1KG_EUR_AF,COL4A4
467356,2:227920946:G>A,NM_000092.4:c.2546-115C>T,\N,\N,29/47,Benign,\N,intron_variant,1.364,0.0249,1KG_EUR_AF,COL4A4
467357,2:227920989:A>G,NM_000092.4:c.2546-158T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,1.092,\N,\N,COL4A4
467358,2:227920997:C>A,NM_000092.4:c.2546-166G>T,\N,\N,29/47,Benign,\N,intron_variant,8.11,0.0051,1KG_SAS_AF,COL4A4
467359,2:227921029:G>C,NM_000092.4:c.2546-198C>G,\N,\N,29/47,Benign,\N,intron_variant,0.697,0.0058,1KG_AMR_AF,COL4A4
467360,2:227921034:A>C,NM_000092.4:c.2546-203T>G,\N,\N,29/47,Unknown significance,\N,intron_variant,1.349,\N,\N,COL4A4
467361,2:227921044:A>T,NM_000092.4:c.2546-213T>A,\N,\N,29/47,Unknown significance,\N,intron_variant,2.574,0.0014,1KG_AMR_AF,COL4A4
467362,2:227921053:G>T,NM_000092.4:c.2546-222C>A,\N,\N,29/47,Unknown significance,\N,intron_variant,3.974,\N,\N,COL4A4
467363,2:227921065:TA>T,NM_000092.4:c.2546-235del,\N,\N,29/47,Benign,\N,intron_variant,5.549,0.6217,1KG_SAS_AF,COL4A4
467364,2:227921071:A>T,NM_000092.4:c.2546-240T>A,\N,\N,29/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
467365,2:227921071:AT>A,NM_000092.4:c.2546-241del,\N,\N,29/47,Unknown significance,\N,intron_variant,0.455,\N,\N,COL4A4
467366,2:227921072:T>A,NM_000092.4:c.2546-241A>T,\N,\N,29/47,Unknown significance,\N,intron_variant,4.058,\N,\N,COL4A4
467367,2:227921095:A>T,NM_000092.4:c.2546-264T>A,\N,\N,29/47,Benign,\N,intron_variant,0.13,0.6217,1KG_SAS_AF,COL4A4
467368,2:227921105:C>A,NM_000092.4:c.2546-274G>T,\N,\N,29/47,Unknown significance,\N,intron_variant,1.391,\N,\N,COL4A4
467369,2:227921106:A>AT,NM_000092.4:c.2546-276dup,\N,\N,29/47,Benign,\N,intron_variant,0.166,0.6217,1KG_SAS_AF,COL4A4
467370,2:227921106:A>T,NM_000092.4:c.2546-275T>A,\N,\N,29/47,Unknown significance,\N,intron_variant,0.351,\N,\N,COL4A4
467371,2:227921114:G>T,NM_000092.4:c.2546-283C>A,\N,\N,29/47,Unknown significance,\N,intron_variant,1.681,\N,\N,COL4A4
467372,2:227921127:G>A,NM_000092.4:c.2546-296C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,0.055,\N,\N,COL4A4
467373,2:227921142:T>C,NM_000092.4:c.2546-311A>G,\N,\N,29/47,Benign,\N,intron_variant,1.255,0.0227,1KG_AFR_AF,COL4A4
467374,2:227921142:TAGA>T,NM_000092.4:c.2546-314_2546-312del,\N,\N,29/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467375,2:227921168:T>C,NM_000092.4:c.2546-337A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,8.774,0.001,1KG_EAS_AF,COL4A4
467376,2:227921175:C>G,NM_000092.4:c.2546-344G>C,\N,\N,29/47,Unknown significance,\N,intron_variant,8.232,\N,\N,COL4A4
467377,2:227921183:G>A,NM_000092.4:c.2546-352C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,0.013,0.001,1KG_EAS_AF,COL4A4
467378,2:227921199:C>T,NM_000092.4:c.2546-368G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,0.425,\N,\N,COL4A4
467379,2:227921200:G>A,NM_000092.4:c.2546-369C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,0.689,\N,\N,COL4A4
467380,2:227921208:A>G,NM_000092.4:c.2546-377T>C,\N,\N,29/47,Benign,\N,intron_variant,3.468,0.8018,1KG_AFR_AF,COL4A4
467381,2:227921220:C>A,NM_000092.4:c.2546-389G>T,\N,\N,29/47,Unknown significance,\N,intron_variant,1.276,0.001,1KG_SAS_AF,COL4A4
467382,2:227921229:T>C,NM_000092.4:c.2546-398A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,2.519,\N,\N,COL4A4
467383,2:227921231:G>T,NM_000092.4:c.2546-400C>A,\N,\N,29/47,Unknown significance,\N,intron_variant,2.012,0.001,1KG_SAS_AF,COL4A4
467384,2:227921239:G>A,NM_000092.4:c.2546-408C>T,\N,\N,29/47,Benign,\N,intron_variant,1.782,0.0388,1KG_EUR_AF,COL4A4
467385,2:227921244:G>A,NM_000092.4:c.2546-413C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,4.568,\N,\N,COL4A4
467386,2:227921278:C>A,NM_000092.4:c.2546-447G>T,\N,\N,29/47,Unknown significance,\N,intron_variant,1.347,\N,\N,COL4A4
467387,2:227921278:C>T,NM_000092.4:c.2546-447G>A,\N,\N,29/47,Benign,\N,intron_variant,1.218,0.0204,1KG_AFR_AF,COL4A4
467388,2:227921279:G>A,NM_000092.4:c.2546-448C>T,\N,\N,29/47,Benign,\N,intron_variant,0.389,0.0204,1KG_AFR_AF,COL4A4
467389,2:227921284:T>C,NM_000092.4:c.2546-453A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,1.444,0.001,1KG_SAS_AF,COL4A4
467390,2:227921314:T>G,NM_000092.4:c.2546-483A>C,\N,\N,29/47,Benign,\N,intron_variant,2.314,0.8018,1KG_AFR_AF,COL4A4
467391,2:227921387:G>A,NM_000092.4:c.2546-556C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,2.065,0.001,1KG_SAS_AF,COL4A4
467392,2:227921399:A>G,NM_000092.4:c.2546-568T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,2.333,0.001,1KG_EAS_AF,COL4A4
467393,2:227921486:T>A,NM_000092.4:c.2546-655A>T,\N,\N,29/47,Benign,\N,intron_variant,2.908,0.0058,1KG_AMR_AF,COL4A4
467394,2:227921498:T>C,NM_000092.4:c.2545+657A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,1.094,0.0008,1KG_AFR_AF,COL4A4
467395,2:227921500:G>C,NM_000092.4:c.2545+655C>G,\N,\N,29/47,Benign,\N,intron_variant,0.053,0.0234,1KG_AFR_AF,COL4A4
467396,2:227921513:A>G,NM_000092.4:c.2545+642T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,2.302,0.001,1KG_EAS_AF,COL4A4
467397,2:227921533:T>C,NM_000092.4:c.2545+622A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,1.045,\N,\N,COL4A4
467398,2:227921543:T>C,NM_000092.4:c.2545+612A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,0.117,\N,\N,COL4A4
467399,2:227921571:C>A,NM_000092.4:c.2545+584G>T,\N,\N,29/47,Unknown significance,\N,intron_variant,3.404,\N,\N,COL4A4
467400,2:227921573:A>G,NM_000092.4:c.2545+582T>C,\N,\N,29/47,Benign,\N,intron_variant,1.287,0.8018,1KG_AFR_AF,COL4A4
467401,2:227921576:C>G,NM_000092.4:c.2545+579G>C,\N,\N,29/47,Unknown significance,\N,intron_variant,2.349,\N,\N,COL4A4
467402,2:227921604:A>C,NM_000092.4:c.2545+551T>G,\N,\N,29/47,Unknown significance,\N,intron_variant,2.788,0.001,1KG_EAS_AF,COL4A4
467403,2:227921612:G>T,NM_000092.4:c.2545+543C>A,\N,\N,29/47,Unknown significance,\N,intron_variant,0.53,\N,\N,COL4A4
467404,2:227921679:G>A,NM_000092.4:c.2545+476C>T,\N,\N,29/47,Benign,\N,intron_variant,0.291,0.3684,1KG_AFR_AF,COL4A4
467405,2:227921706:C>T,NM_000092.4:c.2545+449G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,3.182,\N,\N,COL4A4
467406,2:227921721:A>G,NM_000092.4:c.2545+434T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,3.138,0.001,1KG_SAS_AF,COL4A4
467407,2:227921737:GTGTTCCTAC>TT,NM_000092.4:c.2545+409_2545+418delinsAA,\N,\N,29/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467408,2:227921763:C>T,NM_000092.4:c.2545+392G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,10.04,\N,\N,COL4A4
467409,2:227921818:G>A,NM_000092.4:c.2545+337C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,5.374,\N,\N,COL4A4
467410,2:227921819:C>T,NM_000092.4:c.2545+336G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,3.68,0.0008,1KG_AFR_AF,COL4A4
467411,2:227921884:T>C,NM_000092.4:c.2545+271A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,2.104,0.001,1KG_SAS_AF,COL4A4
467412,2:227921926:G>A,NM_000092.4:c.2545+229C>T,\N,\N,29/47,Benign,\N,intron_variant,1.752,0.7454,1KG_SAS_AF,COL4A4
467413,2:227921934:A>AC,NM_000092.4:c.2545+220dup,\N,\N,29/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467414,2:227921939:C>G,NM_000092.4:c.2545+216G>C,\N,\N,29/47,Unknown significance,\N,intron_variant,4.734,\N,\N,COL4A4
467415,2:227921941:G>A,NM_000092.4:c.2545+214C>T,\N,\N,29/47,Benign,\N,intron_variant,5.363,0.8018,1KG_AFR_AF,COL4A4
467416,2:227921977:A>G,NM_000092.4:c.2545+178T>C,\N,\N,29/47,Benign,\N,intron_variant,1.151,0.8018,1KG_AFR_AF,COL4A4
467417,2:227921981:C>T,NM_000092.4:c.2545+174G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,5.763,0.001,1KG_EAS_AF,COL4A4
467418,2:227922011:C>A,NM_000092.4:c.2545+144G>T,\N,\N,29/47,Unknown significance,\N,intron_variant,2.821,0.0014,1KG_AMR_AF,COL4A4
467419,2:227922012:A>T,NM_000092.4:c.2545+143T>A,\N,\N,29/47,Benign,\N,intron_variant,3.79,0.0089,1KG_EUR_AF,COL4A4
467420,2:227922015:A>G,NM_000092.4:c.2545+140T>C,\N,\N,29/47,Benign,\N,intron_variant,2.091,0.8018,1KG_AFR_AF,COL4A4
467421,2:227922028:G>A,NM_000092.4:c.2545+127C>T,\N,\N,29/47,Unknown significance,\N,intron_variant,3.922,\N,\N,COL4A4
467422,2:227922074:C>T,NM_000092.4:c.2545+81G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,7.92,0.001,1KG_EUR_AF,COL4A4
467423,2:227922076:T>C,NM_000092.4:c.2545+79A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,7.76,0.001,1KG_SAS_AF,COL4A4
467424,2:227922077:C>T,NM_000092.4:c.2545+78G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,8.795,0.001,1KG_EUR_AF,COL4A4
467425,2:227922104:T>C,NM_000092.4:c.2545+51A>G,\N,\N,29/47,Benign,\N,intron_variant,2.229,0.8018,1KG_AFR_AF,COL4A4
467426,2:227922104:T>TACCC,NM_000092.4:c.2545+50_2545+51insGGGT,\N,\N,29/47,Unknown significance,\N,intron_variant,0.998,0.000113045,EXAC_SAS_AF,COL4A4
467427,2:227922107:A>G,NM_000092.4:c.2545+48T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,0.465,\N,\N,COL4A4
467428,2:227922108:T>C,NM_000092.4:c.2545+47A>G,\N,\N,29/47,Unknown significance,\N,intron_variant,1.194,\N,\N,COL4A4
467429,2:227922109:T>A,NM_000092.4:c.2545+46A>T,\N,\N,29/47,Benign,\N,intron_variant,6.639,0.753306,EXAC_SAS_AF,COL4A4
467430,2:227922110:G>C,NM_000092.4:c.2545+45C>G,\N,\N,29/47,Benign,\N,intron_variant,0.377,0.0227,1KG_AFR_AF,COL4A4
467431,2:227922111:T>G,NM_000092.4:c.2545+44A>C,\N,\N,29/47,Unknown significance,\N,intron_variant,4.183,\N,\N,COL4A4
467432,2:227922118:G>T,NM_000092.4:c.2545+37C>A,\N,\N,29/47,Unknown significance,\N,intron_variant,1.133,\N,\N,COL4A4
467433,2:227922132:C>T,NM_000092.4:c.2545+23G>A,\N,\N,29/47,Unknown significance,\N,intron_variant,4.233,0.00250341,EXAC_AFR_AF,COL4A4
467434,2:227922137:A>G,NM_000092.4:c.2545+18T>C,\N,\N,29/47,Unknown significance,\N,intron_variant,1.185,0.000568182,EXAC_EAS_AF,COL4A4
467435,2:227922167:G>A,NM_000092.4:c.2533C>T,NP_000083.3:p.Pro845Ser,29/48,\N,Unknown significance,\N,missense_variant,9.603,0.0000291528,EXAC_NFE_AF,COL4A4
467436,2:227922183:C>T,NM_000092.4:c.2517G>A,NP_000083.3:p.Pro839=,29/48,\N,Unknown significance,\N,synonymous_variant,11.24,0.000085778,EXAC_SAS_AF,COL4A4
467437,2:227922184:G>A,NM_000092.4:c.2516C>T,NP_000083.3:p.Pro839Leu,29/48,\N,Unknown significance,\N,missense_variant,11.33,0.000324675,EXAC_AMR_AF,COL4A4
467438,2:227922189:C>T,NM_000092.4:c.2511G>A,NP_000083.3:p.Gly837=,29/48,\N,Unknown significance,\N,synonymous_variant,11.08,0.000250209,EXAC_SAS_AF,COL4A4
467439,2:227922190:C>G,NM_000092.4:c.2510G>C,NP_000083.3:p.Gly837Ala,29/48,\N,Pathogenic,Alport syndrome,missense_variant,23.5,0.002,1KG_EAS_AF,COL4A4
467440,2:227922205:G>A,NM_000092.4:c.2495C>T,NP_000083.3:p.Ala832Val,29/48,\N,Likely benign,\N,missense_variant,12.71,0.0000193386,EXAC_NFE_AF,COL4A4
467441,2:227922217:C>T,NM_000092.4:c.2483G>A,NP_000083.3:p.Cys828Tyr,29/48,\N,Unknown significance,\N,missense_variant,26.1,0.000134662,EXAC_EAS_AF,COL4A4
467442,2:227922224:G>A,NM_000092.4:c.2476C>T,NP_000083.3:p.His826Tyr,29/48,\N,Likely benign,\N,missense_variant,5.148,0.000131372,EXAC_EAS_AF,COL4A4
467443,2:227922252:C>A,NM_000092.4:c.2448G>T,NP_000083.3:p.Gly816=,29/48,\N,Unknown significance,\N,synonymous_variant,20.7,0.0000310337,EXAC_NFE_AF,COL4A4
467444,2:227922253:C>A,NM_000092.4:c.2447G>T,NP_000083.3:p.Gly816Val,29/48,\N,Unknown significance,\N,missense_variant,33,0.000121566,EVS_EA_AF,COL4A4
467445,2:227922253:C>T,NM_000092.4:c.2447G>A,NP_000083.3:p.Gly816Glu,29/48,\N,Unknown significance,\N,missense_variant,32,0.000835123,EXAC_EAS_AF,COL4A4
467446,2:227922257:C>A,NM_000092.4:c.2443G>T,NP_000083.3:p.Ala815Ser,29/48,\N,Likely benign,\N,missense_variant,8.754,0.0000154036,EXAC_NFE_AF,COL4A4
467447,2:227922261:T>A,NM_000092.4:c.2439A>T,NP_000083.3:p.Gly813=,29/48,\N,Benign,\N,synonymous_variant,5.517,0.056,1KG_AFR_AF,COL4A4
467448,2:227922265:T>G,NM_000092.4:c.2435A>C,NP_000083.3:p.Glu812Ala,29/48,\N,Likely benign,\N,missense_variant,18.29,0.0015,1KG_AFR_AF,COL4A4
467449,2:227922270:G>C,NM_000092.4:c.2430C>G,NP_000083.3:p.Gly810=,29/48,\N,Unknown significance,\N,synonymous_variant,10.29,0.00026738,EXAC_AMR_AF,COL4A4
467450,2:227922271:C>T,NM_000092.4:c.2429G>A,NP_000083.3:p.Gly810Asp,29/48,\N,Unknown significance,\N,missense_variant,33,0.0000891107,EXAC_AMR_AF,COL4A4
467451,2:227922279:AC>A,NM_000092.4:c.2420del,NP_000083.3:p.Gly807ValfsTer62,29/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
467452,2:227922292:A>G,NM_000092.4:c.2408T>C,NP_000083.3:p.Leu803Pro,29/48,\N,Likely benign,\N,missense_variant,13.92,\N,\N,COL4A4
467453,2:227922293:G>A,NM_000092.4:c.2407C>T,NP_000083.3:p.Leu803=,29/48,\N,Unknown significance,\N,synonymous_variant,10.97,0.000176491,EXAC_AMR_AF,COL4A4
467454,2:227922298:C>G,NM_000092.4:c.2402G>C,NP_000083.3:p.Gly801Ala,29/48,\N,Unknown significance,\N,missense_variant,26.6,\N,\N,COL4A4
467455,2:227922301:G>C,NM_000092.4:c.2399C>G,NP_000083.3:p.Pro800Arg,29/48,\N,Benign,\N,missense_variant,25.8,0.00778151,EXAC_FIN_AF,COL4A4
467456,2:227922302:G>A,NM_000092.4:c.2398C>T,NP_000083.3:p.Pro800Ser,29/48,\N,Unknown significance,\N,missense_variant,25.4,0.0000630279,EXAC_SAS_AF,COL4A4
467457,2:227922308:C>T,NM_000092.4:c.2392G>A,NP_000083.3:p.Gly798Ser,29/48,\N,Unknown significance,\N,missense_variant,28.5,\N,\N,COL4A4
467458,2:227922314:GC>G,NM_000092.4:c.2385del,NP_000083.3:p.Pro796GlnfsTer8,29/48,\N,Pathogenic,Benign haematuria,frameshift_variant&splice_region_variant,22.1,\N,\N,COL4A4
467459,2:227922321:A>G,NM_000092.4:c.2384-5T>C,\N,\N,28/47,Benign,\N,splice_region_variant&intron_variant,9.907,0.1895,1KG_EAS_AF,COL4A4
467460,2:227922334:A>G,NM_000092.4:c.2384-18T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,1.566,0.000117702,EXAC_EAS_AF,COL4A4
467461,2:227922338:A>G,NM_000092.4:c.2384-22T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,3.259,0.0000457973,EXAC_NFE_AF,COL4A4
467462,2:227922346:CA>C,NM_000092.4:c.2384-31del,\N,\N,28/47,Unknown significance,\N,intron_variant,3.195,\N,\N,COL4A4
467463,2:227922349:G>A,NM_000092.4:c.2384-33C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,4.415,0.0000897666,EXAC_AMR_AF,COL4A4
467464,2:227922358:C>T,NM_000092.4:c.2384-42G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,8.201,0.0000153666,EXAC_NFE_AF,COL4A4
467465,2:227922361:T>C,NM_000092.4:c.2384-45A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,4.323,0.000105731,EXAC_AFR_AF,COL4A4
467466,2:227922374:T>A,NM_000092.4:c.2384-58A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,4.476,0.0008,1KG_AFR_AF,COL4A4
467467,2:227922375:G>T,NM_000092.4:c.2384-59C>A,\N,\N,28/47,Unknown significance,\N,intron_variant,0.675,\N,\N,COL4A4
467468,2:227922388:C>T,NM_000092.4:c.2384-72G>A,\N,\N,28/47,Benign,\N,intron_variant,1.172,0.0072,1KG_AMR_AF,COL4A4
467469,2:227922401:T>C,NM_000092.4:c.2384-85A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,3.881,0.001,1KG_EAS_AF,COL4A4
467470,2:227922402:GGA>G,NM_000092.4:c.2384-88_2384-87del,\N,\N,28/47,Benign,\N,intron_variant,1.226,0.1036,1KG_AFR_AF,COL4A4
467471,2:227922454:G>A,NM_000092.4:c.2384-138C>T,\N,\N,28/47,Benign,\N,intron_variant,3.085,0.8722,1KG_AFR_AF,COL4A4
467472,2:227922466:A>G,NM_000092.4:c.2384-150T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,7.516,0.002,1KG_EAS_AF,COL4A4
467473,2:227922470:T>C,NM_000092.4:c.2384-154A>G,\N,\N,28/47,Benign,\N,intron_variant,6.591,0.451,1KG_AMR_AF,COL4A4
467474,2:227922495:A>G,NM_000092.4:c.2384-179T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,0.971,0.001,1KG_SAS_AF,COL4A4
467475,2:227922502:C>T,NM_000092.4:c.2384-186G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.19,0.0008,1KG_AFR_AF,COL4A4
467476,2:227922505:C>T,NM_000092.4:c.2384-189G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,0.07,\N,\N,COL4A4
467477,2:227922506:G>A,NM_000092.4:c.2384-190C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,1.879,0.002,1KG_EAS_AF,COL4A4
467478,2:227922529:T>A,NM_000092.4:c.2384-213A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,8.262,0.001,1KG_EUR_AF,COL4A4
467479,2:227922537:T>C,NM_000092.4:c.2384-221A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,2.373,0.001,1KG_SAS_AF,COL4A4
467480,2:227922546:C>T,NM_000092.4:c.2384-230G>A,\N,\N,28/47,Benign,\N,intron_variant,3.557,0.8033,1KG_AFR_AF,COL4A4
467481,2:227922553:C>T,NM_000092.4:c.2384-237G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,5.541,0.001,1KG_EAS_AF,COL4A4
467482,2:227922557:G>A,NM_000092.4:c.2384-241C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,6.42,0.0014,1KG_AMR_AF,COL4A4
467483,2:227922564:A>G,NM_000092.4:c.2384-248T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,11.09,\N,\N,COL4A4
467484,2:227922623:T>C,NM_000092.4:c.2384-307A>G,\N,\N,28/47,Benign,\N,intron_variant,1.522,0.8722,1KG_AFR_AF,COL4A4
467485,2:227922626:A>T,NM_000092.4:c.2384-310T>A,\N,\N,28/47,Unknown significance,\N,intron_variant,0.659,0.0008,1KG_AFR_AF,COL4A4
467486,2:227922655:G>A,NM_000092.4:c.2384-339C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,3.128,\N,\N,COL4A4
467487,2:227922658:C>G,NM_000092.4:c.2384-342G>C,\N,\N,28/47,Unknown significance,\N,intron_variant,2.627,0.001,1KG_EUR_AF,COL4A4
467488,2:227922667:T>C,NM_000092.4:c.2384-351A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,5.401,0.002,1KG_EUR_AF,COL4A4
467489,2:227922688:C>G,NM_000092.4:c.2384-372G>C,\N,\N,28/47,Unknown significance,\N,intron_variant,2.62,0.001,1KG_EAS_AF,COL4A4
467490,2:227922731:T>C,NM_000092.4:c.2384-415A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,4.929,\N,\N,COL4A4
467491,2:227922732:C>CATA,NM_000092.4:c.2384-419_2384-417dup,\N,\N,28/47,Benign,\N,intron_variant,8.824,0.0083,1KG_AFR_AF,COL4A4
467492,2:227922770:C>CG,NM_000092.4:c.2384-455_2384-454insC,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467493,2:227922788:C>CT,NM_000092.4:c.2384-473dup,\N,\N,28/47,Benign,\N,intron_variant,4.013,0.0098,1KG_AFR_AF,COL4A4
467494,2:227922788:CTTTG>C,NM_000092.4:c.2384-476_2384-473del,\N,\N,28/47,Benign,\N,intron_variant,5.116,0.0817,1KG_AFR_AF,COL4A4
467495,2:227922803:T>TG,NM_000092.4:c.2384-488_2384-487insC,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467496,2:227922806:T>TG,NM_000092.4:c.2384-491_2384-490insC,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467497,2:227922819:G>A,NM_000092.4:c.2384-503C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,3.313,\N,\N,COL4A4
467498,2:227922856:A>G,NM_000092.4:c.2384-540T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,1.304,\N,\N,COL4A4
467499,2:227922873:G>A,NM_000092.4:c.2384-557C>T,\N,\N,28/47,Benign,\N,intron_variant,1.416,0.0257,1KG_AFR_AF,COL4A4
467500,2:227922895:G>T,NM_000092.4:c.2384-579C>A,\N,\N,28/47,Unknown significance,\N,intron_variant,1.493,0.001,1KG_SAS_AF,COL4A4
467501,2:227922900:T>C,NM_000092.4:c.2384-584A>G,\N,\N,28/47,Benign,\N,intron_variant,6.261,0.8033,1KG_AFR_AF,COL4A4
467502,2:227922950:G>T,NM_000092.4:c.2384-634C>A,\N,\N,28/47,Unknown significance,\N,intron_variant,0.541,0.0008,1KG_AFR_AF,COL4A4
467503,2:227922958:G>C,NM_000092.4:c.2384-642C>G,\N,\N,28/47,Benign,\N,intron_variant,0.041,0.8026,1KG_AFR_AF,COL4A4
467504,2:227922973:A>G,NM_000092.4:c.2384-657T>C,\N,\N,28/47,Benign,\N,intron_variant,1.328,0.3684,1KG_AFR_AF,COL4A4
467505,2:227922988:A>ATG,NM_000092.4:c.2384-674_2384-673dup,\N,\N,28/47,Unknown significance,\N,intron_variant,5.108,\N,\N,COL4A4
467506,2:227922988:ATG>A,NM_000092.4:c.2384-674_2384-673del,\N,\N,28/47,Unknown significance,\N,intron_variant,10.09,\N,\N,COL4A4
467507,2:227923004:C>A,NM_000092.4:c.2384-688G>T,\N,\N,28/47,Benign,\N,intron_variant,0.038,0.8033,1KG_AFR_AF,COL4A4
467508,2:227923016:T>C,NM_000092.4:c.2384-700A>G,\N,\N,28/47,Benign,\N,intron_variant,2.07,0.0058,1KG_AMR_AF,COL4A4
467509,2:227923022:A>G,NM_000092.4:c.2384-706T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,4.034,\N,\N,COL4A4
467510,2:227923023:T>A,NM_000092.4:c.2384-707A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,7.202,\N,\N,COL4A4
467511,2:227923054:G>A,NM_000092.4:c.2384-738C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,7.029,0.001,1KG_EAS_AF,COL4A4
467512,2:227923071:A>G,NM_000092.4:c.2384-755T>C,\N,\N,28/47,Benign,\N,intron_variant,1.38,0.0227,1KG_AFR_AF,COL4A4
467513,2:227923075:T>A,NM_000092.4:c.2384-759A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,4.469,\N,\N,COL4A4
467514,2:227923080:C>T,NM_000092.4:c.2384-764G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.659,0.002,1KG_SAS_AF,COL4A4
467515,2:227923087:C>T,NM_000092.4:c.2384-771G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.304,\N,\N,COL4A4
467516,2:227923099:A>C,NM_000092.4:c.2384-783T>G,\N,\N,28/47,Unknown significance,\N,intron_variant,1.321,0.0023,1KG_AFR_AF,COL4A4
467517,2:227923100:T>C,NM_000092.4:c.2384-784A>G,\N,\N,28/47,Benign,\N,intron_variant,1.933,0.0072,1KG_SAS_AF,COL4A4
467518,2:227923124:G>A,NM_000092.4:c.2384-808C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,2.135,0.002,1KG_EUR_AF,COL4A4
467519,2:227923135:T>C,NM_000092.4:c.2384-819A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,3.326,\N,\N,COL4A4
467520,2:227923188:GT>G,NM_000092.4:c.2384-873del,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467521,2:227923236:C>T,NM_000092.4:c.2383+885G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,9.997,\N,\N,COL4A4
467522,2:227923243:G>A,NM_000092.4:c.2383+878C>T,\N,\N,28/47,Benign,\N,intron_variant,8.711,0.005,1KG_EAS_AF,COL4A4
467523,2:227923263:C>A,NM_000092.4:c.2383+858G>T,\N,\N,28/47,Unknown significance,\N,intron_variant,3.457,\N,\N,COL4A4
467524,2:227923265:C>T,NM_000092.4:c.2383+856G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.119,0.0008,1KG_AFR_AF,COL4A4
467525,2:227923268:C>T,NM_000092.4:c.2383+853G>A,\N,\N,28/47,Benign,\N,intron_variant,2.201,0.8018,1KG_AFR_AF,COL4A4
467526,2:227923320:G>A,NM_000092.4:c.2383+801C>T,\N,\N,28/47,Benign,\N,intron_variant,1.039,0.8033,1KG_AFR_AF,COL4A4
467527,2:227923357:T>A,NM_000092.4:c.2383+764A>T,\N,\N,28/47,Benign,\N,intron_variant,3.855,0.8033,1KG_AFR_AF,COL4A4
467528,2:227923360:G>T,NM_000092.4:c.2383+761C>A,\N,\N,28/47,Unknown significance,\N,intron_variant,1.264,0.001,1KG_EAS_AF,COL4A4
467529,2:227923361:A>G,NM_000092.4:c.2383+760T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,1.055,\N,\N,COL4A4
467530,2:227923374:A>G,NM_000092.4:c.2383+747T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,4.059,0.002,1KG_EAS_AF,COL4A4
467531,2:227923375:T>C,NM_000092.4:c.2383+746A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,3.707,0.0014,1KG_AMR_AF,COL4A4
467532,2:227923385:C>T,NM_000092.4:c.2383+736G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,4.705,0.0014,1KG_AMR_AF,COL4A4
467533,2:227923392:C>T,NM_000092.4:c.2383+729G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,7.158,\N,\N,COL4A4
467534,2:227923462:G>A,NM_000092.4:c.2383+659C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,11.05,\N,\N,COL4A4
467535,2:227923474:C>T,NM_000092.4:c.2383+647G>A,\N,\N,28/47,Benign,\N,intron_variant,6.912,0.0688,1KG_AFR_AF,COL4A4
467536,2:227923486:T>A,NM_000092.4:c.2383+635A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,6.878,\N,\N,COL4A4
467537,2:227923507:G>A,NM_000092.4:c.2383+614C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,4.647,\N,\N,COL4A4
467538,2:227923523:A>G,NM_000092.4:c.2383+598T>C,\N,\N,28/47,Benign,\N,intron_variant,6.625,0.0991,1KG_AFR_AF,COL4A4
467539,2:227923548:G>A,NM_000092.4:c.2383+573C>T,\N,\N,28/47,Benign,\N,intron_variant,4.218,0.0688,1KG_AFR_AF,COL4A4
467540,2:227923564:T>C,NM_000092.4:c.2383+557A>G,\N,\N,28/47,Benign,\N,intron_variant,3.043,0.8033,1KG_AFR_AF,COL4A4
467541,2:227923619:G>A,NM_000092.4:c.2383+502C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,2.165,\N,\N,COL4A4
467542,2:227923624:A>G,NM_000092.4:c.2383+497T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,0.994,0.003,1KG_EUR_AF,COL4A4
467543,2:227923629:C>CG,NM_000092.4:c.2383+491_2383+492insC,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467544,2:227923630:T>TG,NM_000092.4:c.2383+490_2383+491insC,\N,\N,28/47,Benign,\N,intron_variant,2.617,0.8722,1KG_AFR_AF,COL4A4
467545,2:227923631:C>CG,NM_000092.4:c.2383+489_2383+490insC,\N,\N,28/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467546,2:227923635:C>T,NM_000092.4:c.2383+486G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,5.304,\N,\N,COL4A4
467547,2:227923678:C>T,NM_000092.4:c.2383+443G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,1.334,0.0038,1KG_AFR_AF,COL4A4
467548,2:227923684:C>T,NM_000092.4:c.2383+437G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.034,0.0014,1KG_AMR_AF,COL4A4
467549,2:227923714:G>A,NM_000092.4:c.2383+407C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,0.455,\N,\N,COL4A4
467550,2:227923789:C>G,NM_000092.4:c.2383+332G>C,\N,\N,28/47,Unknown significance,\N,intron_variant,4.177,0.001,1KG_EAS_AF,COL4A4
467551,2:227923852:G>A,NM_000092.4:c.2383+269C>T,\N,\N,28/47,Benign,\N,intron_variant,3.897,0.0688,1KG_AFR_AF,COL4A4
467552,2:227923873:C>T,NM_000092.4:c.2383+248G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,1.947,0.001,1KG_SAS_AF,COL4A4
467553,2:227923875:G>A,NM_000092.4:c.2383+246C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,1.867,0.0008,1KG_AFR_AF,COL4A4
467554,2:227923910:C>T,NM_000092.4:c.2383+211G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,4.549,\N,\N,COL4A4
467555,2:227923919:T>A,NM_000092.4:c.2383+202A>T,\N,\N,28/47,Unknown significance,\N,intron_variant,3.883,\N,\N,COL4A4
467556,2:227923952:A>G,NM_000092.4:c.2383+169T>C,\N,\N,28/47,Benign,\N,intron_variant,3.769,0.8722,1KG_AFR_AF,COL4A4
467557,2:227923984:C>T,NM_000092.4:c.2383+137G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,3.702,0.001,1KG_SAS_AF,COL4A4
467558,2:227924005:T>C,NM_000092.4:c.2383+116A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,2.65,\N,\N,COL4A4
467559,2:227924027:C>T,NM_000092.4:c.2383+94G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,4.186,0.001,1KG_EAS_AF,COL4A4
467560,2:227924052:C>T,NM_000092.4:c.2383+69G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,9.706,0.0008,1KG_AFR_AF,COL4A4
467561,2:227924053:G>A,NM_000092.4:c.2383+68C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,9.132,\N,\N,COL4A4
467562,2:227924077:C>T,NM_000092.4:c.2383+44G>A,\N,\N,28/47,Unknown significance,\N,intron_variant,5.166,0.0014,1KG_AMR_AF,COL4A4
467563,2:227924081:G>A,NM_000092.4:c.2383+40C>T,\N,\N,28/47,Unknown significance,\N,intron_variant,3.354,0.0000149876,EXAC_NFE_AF,COL4A4
467564,2:227924084:A>G,NM_000092.4:c.2383+37T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,0.348,0.0000899227,EXAC_NFE_AF,COL4A4
467565,2:227924091:T>C,NM_000092.4:c.2383+30A>G,\N,\N,28/47,Unknown significance,\N,intron_variant,2.596,\N,\N,COL4A4
467566,2:227924100:A>G,NM_000092.4:c.2383+21T>C,\N,\N,28/47,Unknown significance,\N,intron_variant,1.73,0.000029976,EXAC_NFE_AF,COL4A4
467567,2:227924106:G>C,NM_000092.4:c.2383+15C>G,\N,\N,28/47,Unknown significance,\N,intron_variant,0.876,0.0000149871,EXAC_NFE_AF,COL4A4
467568,2:227924112:C>A,NM_000092.4:c.2383+9G>T,\N,\N,28/47,Unknown significance,\N,intron_variant,5.035,0.0000149871,EXAC_NFE_AF,COL4A4
467569,2:227924114:C>T,NM_000092.4:c.2383+7G>A,\N,\N,28/47,Unknown significance,\N,splice_region_variant&intron_variant,1.497,0.00155039,EVS_AA_AF,COL4A4
467570,2:227924119:A>C,NM_000092.4:c.2383+2T>G,\N,\N,28/47,Pathogenic,Alport syndrome,splice_donor_variant,23.6,\N,\N,COL4A4
467571,2:227924120:C>A,NM_000092.4:c.2383+1G>T,\N,\N,28/47,Pathogenic,Alport syndrome,splice_donor_variant,25.6,\N,\N,COL4A4
467572,2:227924121:C>G,NM_000092.4:c.2383G>C,NP_000083.3:p.Gly795Arg,28/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,29,0.0000149871,EXAC_NFE_AF,COL4A4
467573,2:227924126:G>A,NM_000092.4:c.2378C>T,NP_000083.3:p.Ala793Val,28/48,\N,Likely benign,\N,missense_variant,14.14,0.000121566,EVS_EA_AF,COL4A4
467574,2:227924129:C>T,NM_000092.4:c.2375G>A,NP_000083.3:p.Gly792Glu,28/48,\N,Unknown significance,\N,missense_variant,26.5,0.0008,1KG_AFR_AF,COL4A4
467575,2:227924130:C>T,NM_000092.4:c.2374G>A,NP_000083.3:p.Gly792Arg,28/48,\N,Pathogenic,Alport syndrome,missense_variant,26.9,0.0000149862,EXAC_NFE_AF,COL4A4
467576,2:227924131:T>C,NM_000092.4:c.2373A>G,NP_000083.3:p.Pro791=,28/48,\N,Unknown significance,\N,synonymous_variant,0.046,\N,\N,COL4A4
467577,2:227924135:C>T,NM_000092.4:c.2369G>A,NP_000083.3:p.Cys790Tyr,28/48,\N,Likely benign,\N,missense_variant,0.002,0.0000149862,EXAC_NFE_AF,COL4A4
467578,2:227924137:T>A,NM_000092.4:c.2367A>T,NP_000083.3:p.Gly789=,28/48,\N,Benign,\N,synonymous_variant,4.008,0.0105891,EVS_EA_AF,COL4A4
467579,2:227924137:T>C,NM_000092.4:c.2367A>G,NP_000083.3:p.Gly789=,28/48,\N,Unknown significance,\N,synonymous_variant,0.186,0.0015,1KG_AFR_AF,COL4A4
467580,2:227924141:G>A,NM_000092.4:c.2363C>T,NP_000083.3:p.Pro788Leu,28/48,\N,Likely benign,\N,missense_variant,7.851,0.0000605914,EXAC_SAS_AF,COL4A4
467581,2:227924152:G>A,NM_000092.4:c.2352C>T,NP_000083.3:p.Pro784=,28/48,\N,Unknown significance,\N,synonymous_variant,0.955,0.00017301,EXAC_AMR_AF,COL4A4
467582,2:227924153:G>C,NM_000092.4:c.2351C>G,NP_000083.3:p.Pro784Arg,28/48,\N,Likely benign,\N,missense_variant,0.003,\N,\N,COL4A4
467583,2:227924158:T>C,NM_000092.4:c.2346A>G,NP_000083.3:p.Lys782=,28/48,\N,Unknown significance,\N,synonymous_variant,0.058,0.0015,1KG_AFR_AF,COL4A4
467584,2:227924164:C>T,NM_000092.4:c.2340G>A,NP_000083.3:p.Gly780=,28/48,\N,Unknown significance,\N,synonymous_variant,12.32,0.0000149862,EXAC_NFE_AF,COL4A4
467585,2:227924182:A>T,NM_000092.4:c.2322T>A,NP_000083.3:p.Gly774=,28/48,\N,Unknown significance,\N,synonymous_variant,0.183,0.000269542,EVS_AA_AF,COL4A4
467586,2:227924184:C>G,NM_000092.4:c.2320G>C,NP_000083.3:p.Gly774Arg,28/48,\N,Pathogenic,Benign haematuria,missense_variant,32,0.000484672,EXAC_SAS_AF,COL4A4
467587,2:227924185:C>T,NM_000092.4:c.2319G>A,NP_000083.3:p.Arg773=,28/48,\N,Unknown significance,\N,synonymous_variant,14.89,0.00133285,EXAC_SAS_AF,COL4A4
467588,2:227924192:C>T,NM_000092.4:c.2312G>A,NP_000083.3:p.Gly771Glu,28/48,\N,Unknown significance,\N,missense_variant,26.4,0.0000149903,EXAC_NFE_AF,COL4A4
467589,2:227924194:C>T,NM_000092.4:c.2310G>A,NP_000083.3:p.Pro770=,28/48,\N,Unknown significance,\N,synonymous_variant,7.292,0.000102166,EXAC_AFR_AF,COL4A4
467590,2:227924195:G>A,NM_000092.4:c.2309C>T,NP_000083.3:p.Pro770Leu,28/48,\N,Unknown significance,\N,missense_variant,25.1,0.000204332,EXAC_AFR_AF,COL4A4
467591,2:227924197:G>A,NM_000092.4:c.2307C>T,NP_000083.3:p.Pro769=,28/48,\N,Unknown significance,\N,synonymous_variant,4.344,0.0000149898,EXAC_NFE_AF,COL4A4
467592,2:227924197:G>T,NM_000092.4:c.2307C>A,NP_000083.3:p.Pro769=,28/48,\N,Unknown significance,\N,synonymous_variant,1.936,0.000116144,EXAC_EAS_AF,COL4A4
467593,2:227924199:G>A,NM_000092.4:c.2305C>T,NP_000083.3:p.Pro769Ser,28/48,\N,Likely benign,\N,missense_variant,7.649,0.0000149903,EXAC_NFE_AF,COL4A4
467594,2:227924205:G>A,NM_000092.4:c.2299C>T,NP_000083.3:p.Leu767=,28/48,\N,Unknown significance,\N,synonymous_variant,9.358,0.0000149912,EXAC_NFE_AF,COL4A4
467595,2:227924210:C>A,NM_000092.4:c.2294G>T,NP_000083.3:p.Gly765Val,28/48,\N,Unknown significance,\N,missense_variant,32,0.000119958,EXAC_NFE_AF,COL4A4
467596,2:227924214:A>G,NM_000092.4:c.2290T>C,NP_000083.3:p.Phe764Leu,28/48,\N,Unknown significance,\N,missense_variant,17.14,0.0000149957,EXAC_NFE_AF,COL4A4
467597,2:227924223:C>G,NM_000092.4:c.2281G>C,NP_000083.3:p.Asp761His,28/48,\N,Unknown significance,\N,missense_variant,32,0.000302389,EXAC_FIN_AF,COL4A4
467598,2:227924224:T>TC,NM_000092.4:c.2279dup,NP_000083.3:p.Asp761ArgfsTer27,28/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
467599,2:227924227:C>A,NM_000092.4:c.2277G>T,NP_000083.3:p.Pro759=,28/48,\N,Unknown significance,\N,synonymous_variant,20.2,\N,\N,COL4A4
467600,2:227924227:C>T,NM_000092.4:c.2277G>A,NP_000083.3:p.Pro759=,28/48,\N,Unknown significance,\N,synonymous_variant,16.66,0.000273075,EVS_AA_AF,COL4A4
467601,2:227924228:G>A,NM_000092.4:c.2276C>T,NP_000083.3:p.Pro759Leu,28/48,\N,Benign,\N,missense_variant,25.4,0.0991,1KG_AFR_AF,COL4A4
467602,2:227924240:T>C,NM_000092.4:c.2264A>G,NP_000083.3:p.Gln755Arg,28/48,\N,Likely benign,\N,missense_variant,16.6,0.000151194,EXAC_FIN_AF,COL4A4
467603,2:227924248:C>G,NM_000092.4:c.2256G>C,NP_000083.3:p.Val752=,28/48,\N,Unknown significance,\N,synonymous_variant,10.88,0.0000150326,EXAC_NFE_AF,COL4A4
467604,2:227924250:C>G,NM_000092.4:c.2254G>C,NP_000083.3:p.Val752Leu,28/48,\N,Likely benign,\N,missense_variant,6.241,0.0000300661,EXAC_NFE_AF,COL4A4
467605,2:227924250:C>T,NM_000092.4:c.2254G>A,NP_000083.3:p.Val752Met,28/48,\N,Likely benign,\N,missense_variant,11.94,0.0000864902,EXAC_AMR_AF,COL4A4
467606,2:227924256:G>GT,NM_000092.4:c.2247dup,NP_000083.3:p.Pro750ThrfsTer38,28/48,\N,Unknown significance,\N,frameshift_variant,34,0.000102796,EXAC_AFR_AF,COL4A4
467607,2:227924262:C>T,NM_000092.4:c.2242G>A,NP_000083.3:p.Gly748Ser,28/48,\N,Unknown significance,\N,missense_variant,31,0.00017298,EXAC_AMR_AF,COL4A4
467608,2:227924263:G>A,NM_000092.4:c.2241C>T,NP_000083.3:p.Pro747=,28/48,\N,Unknown significance,\N,synonymous_variant,11.27,0.0015,1KG_AFR_AF,COL4A4
467609,2:227924263:G>C,NM_000092.4:c.2241C>G,NP_000083.3:p.Pro747=,28/48,\N,Unknown significance,\N,synonymous_variant,9.583,0.0000150757,EXAC_NFE_AF,COL4A4
467610,2:227924272:T>C,NM_000092.4:c.2232A>G,NP_000083.3:p.Pro744=,28/48,\N,Unknown significance,\N,synonymous_variant,5.142,\N,\N,COL4A4
467611,2:227924274:G>C,NM_000092.4:c.2230C>G,NP_000083.3:p.Pro744Ala,28/48,\N,Unknown significance,\N,missense_variant,21.8,\N,\N,COL4A4
467612,2:227924275:G>A,NM_000092.4:c.2229C>T,NP_000083.3:p.Pro743=,28/48,\N,Unknown significance,\N,synonymous_variant,7.792,0.0000150971,EXAC_NFE_AF,COL4A4
467613,2:227924284:A>AG,NM_000092.4:c.2219dup,NP_000083.3:p.Val741CysfsTer47,28/48,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,COL4A4
467614,2:227924290:G>A,NM_000092.4:c.2214C>T,NP_000083.3:p.Ser738=,28/48,\N,Unknown significance,\N,synonymous_variant,0.715,0.0000606281,EXAC_SAS_AF,COL4A4
467615,2:227924292:A>C,NM_000092.4:c.2212T>G,NP_000083.3:p.Ser738Ala,28/48,\N,Likely benign,\N,missense_variant,8.164,0.0000151309,EXAC_NFE_AF,COL4A4
467616,2:227924295:C>G,NM_000092.4:c.2209G>C,NP_000083.3:p.Gly737Arg,28/48,\N,Unknown significance,\N,missense_variant,26.6,0.0000867604,EXAC_AMR_AF,COL4A4
467617,2:227924301:C>T,NM_000092.4:c.2203G>A,NP_000083.3:p.Glu735Lys,28/48,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,COL4A4
467618,2:227924311:A>C,NM_000092.4:c.2193T>G,NP_000083.3:p.Gly731=,28/48,\N,Unknown significance,\N,synonymous_variant,0.002,0.00015124,EXAC_FIN_AF,COL4A4
467619,2:227924315:G>A,NM_000092.4:c.2189C>T,NP_000083.3:p.Pro730Leu,28/48,\N,Unknown significance,\N,missense_variant,25.4,0.000347283,EXAC_AMR_AF,COL4A4
467620,2:227924319:C>T,NM_000092.4:c.2185G>A,NP_000083.3:p.Asp729Asn,28/48,\N,Unknown significance,\N,missense_variant,24.6,0.0000868508,EXAC_AMR_AF,COL4A4
467621,2:227924321:C>T,NM_000092.4:c.2183G>A,NP_000083.3:p.Gly728Glu,28/48,\N,Pathogenic,Alport syndrome,missense_variant,28.6,\N,\N,COL4A4
467622,2:227924322:C>T,NM_000092.4:c.2182G>A,NP_000083.3:p.Gly728Arg,28/48,\N,Unknown significance,\N,missense_variant,31,0.001,1KG_EUR_AF,COL4A4
467623,2:227924333:C>T,NM_000092.4:c.2171G>A,NP_000083.3:p.Arg724His,28/48,\N,Likely benign,\N,missense_variant,25.4,0.000214159,EXAC_NFE_AF,COL4A4
467624,2:227924334:G>A,NM_000092.4:c.2170C>T,NP_000083.3:p.Arg724Cys,28/48,\N,Unknown significance,\N,missense_variant,26.9,0.0000612708,EXAC_NFE_AF,COL4A4
467625,2:227924343:T>C,NM_000092.4:c.2165-4A>G,\N,\N,27/47,Unknown significance,\N,splice_region_variant&intron_variant,10.98,0.0000154967,EXAC_NFE_AF,COL4A4
467626,2:227924345:T>TAAC,NM_000092.4:c.2165-9_2165-7dup,\N,\N,27/47,Unknown significance,\N,splice_region_variant&intron_variant,9.985,\N,\N,COL4A4
467627,2:227924350:A>G,NM_000092.4:c.2165-11T>C,\N,\N,27/47,Unknown significance,\N,intron_variant,3.746,0.000015648,EXAC_NFE_AF,COL4A4
467628,2:227924350:AC>A,NM_000092.4:c.2165-12del,\N,\N,27/47,Unknown significance,\N,intron_variant,0.183,0.0000876732,EXAC_AMR_AF,COL4A4
467629,2:227924351:C>CA,NM_000092.4:c.2165-13dup,\N,\N,27/47,Unknown significance,\N,intron_variant,\N,0.000121832,EXAC_EAS_AF,COL4A4
467630,2:227924351:C>T,NM_000092.4:c.2165-12G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,0.347,0.00017963,EXAC_AMR_AF,COL4A4
467631,2:227924351:CA>C,NM_000092.4:c.2165-13del,\N,\N,27/47,Benign,\N,intron_variant,8.672,0.0983,1KG_AFR_AF,COL4A4
467632,2:227924353:A>AC,NM_000092.4:c.2165-15_2165-14insG,\N,\N,27/47,Unknown significance,\N,intron_variant,0.181,\N,\N,COL4A4
467633,2:227924354:A>C,NM_000092.4:c.2165-15T>G,\N,\N,27/47,Benign,\N,intron_variant,0.205,0.0983,1KG_AFR_AF,COL4A4
467634,2:227924360:A>AT,NM_000092.4:c.2165-22dup,\N,\N,27/47,Benign,\N,intron_variant,0.104,0.0862,1KG_AFR_AF,COL4A4
467635,2:227924360:A>ATT,NM_000092.4:c.2165-23_2165-22dup,\N,\N,27/47,Unknown significance,\N,intron_variant,\N,0.0000317551,EXAC_NFE_AF,COL4A4
467636,2:227924360:A>C,NM_000092.4:c.2165-21T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.129,0.0000158776,EXAC_NFE_AF,COL4A4
467637,2:227924360:AT>A,NM_000092.4:c.2165-22del,\N,\N,27/47,Unknown significance,\N,intron_variant,0.534,0.000448531,EXAC_AFR_AF,COL4A4
467638,2:227924360:A>T,NM_000092.4:c.2165-21T>A,\N,\N,27/47,Unknown significance,\N,intron_variant,0.174,0.000448531,EXAC_AFR_AF,COL4A4
467639,2:227924361:T>A,NM_000092.4:c.2165-22A>T,\N,\N,27/47,Unknown significance,\N,intron_variant,6.504,0.0015,1KG_AFR_AF,COL4A4
467640,2:227924361:T>G,NM_000092.4:c.2165-22A>C,\N,\N,27/47,Unknown significance,\N,intron_variant,3.378,0.000123244,EVS_EA_AF,COL4A4
467641,2:227924374:CAT>C,NM_000092.4:c.2165-37_2165-36del,\N,\N,27/47,Unknown significance,\N,intron_variant,6.948,0.003,1KG_EAS_AF,COL4A4
467642,2:227924377:G>A,NM_000092.4:c.2165-38C>T,\N,\N,27/47,Unknown significance,\N,intron_variant,5.139,0.0000890789,EXAC_AMR_AF,COL4A4
467643,2:227924379:G>C,NM_000092.4:c.2165-40C>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.575,0.000123518,EVS_EA_AF,COL4A4
467644,2:227924386:T>C,NM_000092.4:c.2165-47A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,2.373,0.0000164004,EXAC_NFE_AF,COL4A4
467645,2:227924391:C>T,NM_000092.4:c.2165-52G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,2.307,0.0000621504,EXAC_SAS_AF,COL4A4
467646,2:227924401:T>C,NM_000092.4:c.2165-62A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,1.837,0.003,1KG_EUR_AF,COL4A4
467647,2:227924410:C>T,NM_000092.4:c.2165-71G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,9.64,\N,\N,COL4A4
467648,2:227924425:T>C,NM_000092.4:c.2165-86A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,1.85,\N,\N,COL4A4
467649,2:227924428:T>C,NM_000092.4:c.2165-89A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,4.998,0.001,1KG_EUR_AF,COL4A4
467650,2:227924451:C>A,NM_000092.4:c.2165-112G>T,\N,\N,27/47,Unknown significance,\N,intron_variant,9.449,\N,\N,COL4A4
467651,2:227924464:C>T,NM_000092.4:c.2165-125G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,3.523,\N,\N,COL4A4
467652,2:227924481:T>C,NM_000092.4:c.2165-142A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,1.115,\N,\N,COL4A4
467653,2:227924488:C>T,NM_000092.4:c.2165-149G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,4.626,0.001,1KG_SAS_AF,COL4A4
467654,2:227924512:G>C,NM_000092.4:c.2165-173C>G,\N,\N,27/47,Unknown significance,\N,intron_variant,1.523,\N,\N,COL4A4
467655,2:227924525:T>C,NM_000092.4:c.2165-186A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,7.117,0.0014,1KG_AMR_AF,COL4A4
467656,2:227924537:A>G,NM_000092.4:c.2165-198T>C,\N,\N,27/47,Unknown significance,\N,intron_variant,1.156,0.002,1KG_SAS_AF,COL4A4
467657,2:227924582:T>TG,NM_000092.4:c.2165-244dup,\N,\N,27/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467658,2:227924586:C>T,NM_000092.4:c.2165-247G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,3.767,\N,\N,COL4A4
467659,2:227924590:G>A,NM_000092.4:c.2165-251C>T,\N,\N,27/47,Unknown significance,\N,intron_variant,3.493,0.001,1KG_EUR_AF,COL4A4
467660,2:227924610:G>A,NM_000092.4:c.2164+242C>T,\N,\N,27/47,Unknown significance,\N,intron_variant,4.104,0.002,1KG_EAS_AF,COL4A4
467661,2:227924625:A>C,NM_000092.4:c.2164+227T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,3.418,\N,\N,COL4A4
467662,2:227924677:C>T,NM_000092.4:c.2164+175G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,14.91,\N,\N,COL4A4
467663,2:227924680:A>C,NM_000092.4:c.2164+172T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,13.69,\N,\N,COL4A4
467664,2:227924733:T>C,NM_000092.4:c.2164+119A>G,\N,\N,27/47,Benign,\N,intron_variant,0.477,0.0567,1KG_AFR_AF,COL4A4
467665,2:227924734:C>T,NM_000092.4:c.2164+118G>A,\N,\N,27/47,Unknown significance,\N,intron_variant,2.59,\N,\N,COL4A4
467666,2:227924772:A>G,NM_000092.4:c.2164+80T>C,\N,\N,27/47,Unknown significance,\N,intron_variant,2.441,0.001,1KG_SAS_AF,COL4A4
467667,2:227924774:C>T,NM_000092.4:c.2164+78G>A,\N,\N,27/47,Benign,\N,intron_variant,2.178,0.3154,1KG_AFR_AF,COL4A4
467668,2:227924806:T>C,NM_000092.4:c.2164+46A>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.4,0.000388802,EXAC_EAS_AF,COL4A4
467669,2:227924812:A>C,NM_000092.4:c.2164+40T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,3.615,\N,\N,COL4A4
467670,2:227924815:C>CAAA,NM_000092.4:c.2164+36_2164+37insTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,7.25,0.000257998,EXAC_AMR_AF,COL4A4
467671,2:227924815:C>CAAAA,NM_000092.4:c.2164+36_2164+37insTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,7.121,0.0000404826,EXAC_NFE_AF,COL4A4
467672,2:227924815:C>CAGAA,NM_000092.4:c.2164+33_2164+36dup,\N,\N,27/47,Unknown significance,\N,intron_variant,7.121,0.000284091,EXAC_AFR_AF,COL4A4
467673,2:227924815:C>CAGAAA,NM_000092.4:c.2164+32_2164+36dup,\N,\N,27/47,Unknown significance,\N,intron_variant,6.99,0.0000404826,EXAC_NFE_AF,COL4A4
467674,2:227924816:A>AG,NM_000092.4:c.2164+35dup,\N,\N,27/47,Unknown significance,\N,intron_variant,2.978,0.000270197,EXAC_EAS_AF,COL4A4
467675,2:227924817:G>GAA,NM_000092.4:c.2164+33_2164+34dup,\N,\N,27/47,Unknown significance,\N,intron_variant,3.246,\N,\N,COL4A4
467676,2:227924817:G>GAAAA,NM_000092.4:c.2164+31_2164+34dup,\N,\N,27/47,Unknown significance,\N,intron_variant,2.916,\N,\N,COL4A4
467677,2:227924817:G>GAAAAA,NM_000092.4:c.2164+30_2164+34dup,\N,\N,27/47,Benign,\N,intron_variant,2.756,0.0835962,EXAC_FIN_AF,COL4A4
467678,2:227924817:G>GAAAAAA,NM_000092.4:c.2164+29_2164+34dup,\N,\N,27/47,Benign,\N,intron_variant,2.6,0.103755,EXAC_AMR_AF,COL4A4
467679,2:227924817:G>GAAAAAAA,NM_000092.4:c.2164+28_2164+34dup,\N,\N,27/47,Benign,\N,intron_variant,2.448,0.144269,EXAC_AMR_AF,COL4A4
467680,2:227924817:G>GAAAAAAAA,NM_000092.4:c.2164+27_2164+34dup,\N,\N,27/47,Benign,\N,intron_variant,2.301,0.11166,EXAC_AMR_AF,COL4A4
467681,2:227924817:G>GAAAAAAAAA,NM_000092.4:c.2164+26_2164+34dup,\N,\N,27/47,Benign,\N,intron_variant,2.159,0.076087,EXAC_AMR_AF,COL4A4
467682,2:227924817:GAAAAAAAAAA>G,NM_000092.4:c.2164+25_2164+34del,\N,\N,27/47,Benign,\N,intron_variant,0.251,0.155004,EXAC_SAS_AF,COL4A4
467683,2:227924818:A>G,NM_000092.4:c.2164+34T>C,\N,\N,27/47,Unknown significance,\N,intron_variant,0.998,0.000612745,EXAC_NFE_AF,COL4A4
467684,2:227924821:A>AAAAAAG,NM_000092.4:c.2164+30_2164+31insCTTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.041,\N,\N,COL4A4
467685,2:227924823:A>AAAAAC,NM_000092.4:c.2164+28_2164+29insGTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.015,\N,\N,COL4A4
467686,2:227924826:A>AAAAAAC,NM_000092.4:c.2164+25_2164+26insGTTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.026,\N,\N,COL4A4
467687,2:227924826:A>AAAC,NM_000092.4:c.2164+25_2164+26insGTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.033,\N,\N,COL4A4
467688,2:227924829:A>AAAAAAC,NM_000092.4:c.2164+22_2164+23insGTTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.025,\N,\N,COL4A4
467689,2:227924830:A>AC,NM_000092.4:c.2164+21_2164+22insG,\N,\N,27/47,Unknown significance,\N,intron_variant,0.038,\N,\N,COL4A4
467690,2:227924830:A>C,NM_000092.4:c.2164+22T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.16,\N,\N,COL4A4
467691,2:227924831:A>AAAAC,NM_000092.4:c.2164+20_2164+21insGTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.015,\N,\N,COL4A4
467692,2:227924831:A>AC,NM_000092.4:c.2164+20_2164+21insG,\N,\N,27/47,Unknown significance,\N,intron_variant,0.018,\N,\N,COL4A4
467693,2:227924831:A>C,NM_000092.4:c.2164+21T>G,\N,\N,27/47,Benign,\N,intron_variant,0.16,0.0419,1KG_SAS_AF,COL4A4
467694,2:227924832:A>AAAAAAAAAAC,NM_000092.4:c.2164+10_2164+19dup,\N,\N,27/47,Unknown significance,\N,intron_variant,0.01,\N,\N,COL4A4
467695,2:227924832:A>AAAAAAC,NM_000092.4:c.2164+19_2164+20insGTTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.013,\N,\N,COL4A4
467696,2:227924832:A>AAAAC,NM_000092.4:c.2164+19_2164+20insGTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.016,\N,\N,COL4A4
467697,2:227924832:A>AAAC,NM_000092.4:c.2164+19_2164+20insGTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.017,\N,\N,COL4A4
467698,2:227924832:A>C,NM_000092.4:c.2164+20T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.07,\N,\N,COL4A4
467699,2:227924835:A>AAC,NM_000092.4:c.2164+16_2164+17insGT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.057,\N,\N,COL4A4
467700,2:227924835:A>C,NM_000092.4:c.2164+17T>G,\N,\N,27/47,Unknown significance,\N,intron_variant,0.005,\N,\N,COL4A4
467701,2:227924836:A>AAAAAAC,NM_000092.4:c.2164+10_2164+15dup,\N,\N,27/47,Unknown significance,\N,intron_variant,0.068,\N,\N,COL4A4
467702,2:227924836:A>AAAAAC,NM_000092.4:c.2164+15_2164+16insGTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.075,\N,\N,COL4A4
467703,2:227924836:A>AAAAC,NM_000092.4:c.2164+15_2164+16insGTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.081,\N,\N,COL4A4
467704,2:227924836:A>AAAC,NM_000092.4:c.2164+15_2164+16insGTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.089,\N,\N,COL4A4
467705,2:227924836:A>AAC,NM_000092.4:c.2164+15_2164+16insGT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.097,\N,\N,COL4A4
467706,2:227924837:A>AAAAAAAAAAC,NM_000092.4:c.2164+14_2164+15insGTTTTTTTTT,\N,\N,27/47,Unknown significance,\N,intron_variant,0.057,\N,\N,COL4A4
467707,2:227924837:A>AAAAAC,NM_000092.4:c.2164+10_2164+14dup,\N,\N,27/47,Unknown significance,\N,intron_variant,0.087,\N,\N,COL4A4
467708,2:227924838:A>AAAAC,NM_000092.4:c.2164+10_2164+13dup,\N,\N,27/47,Unknown significance,\N,intron_variant,0.046,\N,\N,COL4A4
467709,2:227924840:A>AAC,NM_000092.4:c.2164+10_2164+11dup,\N,\N,27/47,Unknown significance,\N,intron_variant,0.214,\N,\N,COL4A4
467710,2:227924841:A>AC,NM_000092.4:c.2164+10dup,\N,\N,27/47,Unknown significance,\N,intron_variant,\N,0.000105352,EXAC_AFR_AF,COL4A4
467711,2:227924841:AC>A,NM_000092.4:c.2164+10del,\N,\N,27/47,Unknown significance,\N,intron_variant,0.889,0.0000153125,EXAC_NFE_AF,COL4A4
467712,2:227924844:T>C,NM_000092.4:c.2164+8A>G,\N,\N,27/47,Unknown significance,\N,splice_region_variant&intron_variant,1.104,\N,\N,COL4A4
467713,2:227924844:T>TAAAA,NM_000092.4:c.2164+7_2164+8insTTTT,\N,\N,27/47,Unknown significance,\N,splice_region_variant&intron_variant,\N,\N,\N,COL4A4
467714,2:227924852:C>T,NM_000092.4:c.2164G>A,NP_000083.3:p.Gly722Ser,27/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,29,\N,\N,COL4A4
467715,2:227924855:G>A,NM_000092.4:c.2161C>T,NP_000083.3:p.Pro721Ser,27/48,\N,Unknown significance,\N,missense_variant,25.9,0.000244858,EVS_EA_AF,COL4A4
467716,2:227924856:T>G,NM_000092.4:c.2160A>C,NP_000083.3:p.Pro720=,27/48,\N,Unknown significance,\N,synonymous_variant,6.069,\N,\N,COL4A4
467717,2:227924857:G>A,NM_000092.4:c.2159C>T,NP_000083.3:p.Pro720Leu,27/48,\N,Unknown significance,\N,missense_variant,24.5,0.0000151121,EXAC_NFE_AF,COL4A4
467718,2:227924864:G>T,NM_000092.4:c.2152C>A,NP_000083.3:p.Pro718Thr,27/48,\N,Unknown significance,\N,missense_variant,22.7,0.0000150971,EXAC_NFE_AF,COL4A4
467719,2:227924871:C>T,NM_000092.4:c.2145G>A,NP_000083.3:p.Ala715=,27/48,\N,Unknown significance,\N,synonymous_variant,10.92,0.000235516,EXAC_EAS_AF,COL4A4
467720,2:227924872:G>A,NM_000092.4:c.2144C>T,NP_000083.3:p.Ala715Val,27/48,\N,Likely benign,\N,missense_variant,15.5,0.0014,1KG_AMR_AF,COL4A4
467721,2:227924872:G>GCTGTTC,NM_000092.4:c.2138_2143dup,NP_000083.3:p.Gly713_Thr714dup,27/48,\N,Unknown significance,\N,inframe_insertion,7.807,0.0000453159,EXAC_NFE_AF,COL4A4
467722,2:227924883:T>G,NM_000092.4:c.2133A>C,NP_000083.3:p.Thr711=,27/48,\N,Unknown significance,\N,synonymous_variant,1.264,0.000117536,EXAC_EAS_AF,COL4A4
467723,2:227924886:G>C,NM_000092.4:c.2130C>G,NP_000083.3:p.Gly710=,27/48,\N,Unknown significance,\N,synonymous_variant,0.461,0.000117454,EXAC_EAS_AF,COL4A4
467724,2:227924893:C>A,NM_000092.4:c.2123G>T,NP_000083.3:p.Arg708Ile,27/48,\N,Likely benign,\N,missense_variant,12.49,0.000693241,EXAC_AMR_AF,COL4A4
467725,2:227924894:T>G,NM_000092.4:c.2122A>C,NP_000083.3:p.Arg708=,27/48,\N,Unknown significance,\N,synonymous_variant,0.048,\N,\N,COL4A4
467726,2:227924895:G>C,NM_000092.4:c.2121C>G,NP_000083.3:p.Gly707=,27/48,\N,Unknown significance,\N,synonymous_variant,0.076,0.0000606722,EXAC_SAS_AF,COL4A4
467727,2:227924899:T>G,NM_000092.4:c.2117A>C,NP_000083.3:p.Lys706Thr,27/48,\N,Unknown significance,\N,missense_variant,24.8,0.0000150489,EXAC_NFE_AF,COL4A4
467728,2:227924901:A>T,NM_000092.4:c.2115T>A,NP_000083.3:p.His705Gln,27/48,\N,Likely benign,\N,missense_variant,0.001,0.000243665,EVS_EA_AF,COL4A4
467729,2:227924902:T>C,NM_000092.4:c.2114A>G,NP_000083.3:p.His705Arg,27/48,\N,Likely benign,\N,missense_variant,0.001,0.0000150476,EXAC_NFE_AF,COL4A4
467730,2:227924907:A>G,NM_000092.4:c.2109T>C,NP_000083.3:p.Asp703=,27/48,\N,Unknown significance,\N,synonymous_variant,0.36,0.000117096,EXAC_EAS_AF,COL4A4
467731,2:227924914:C>A,NM_000092.4:c.2102G>T,NP_000083.3:p.Gly701Val,27/48,\N,Unknown significance,\N,missense_variant,24.3,0.0000606428,EXAC_SAS_AF,COL4A4
467732,2:227924931:A>C,NM_000092.4:c.2085T>G,NP_000083.3:p.Gly695=,27/48,\N,Unknown significance,\N,synonymous_variant,0.003,0.0000150516,EXAC_NFE_AF,COL4A4
467733,2:227924931:A>G,NM_000092.4:c.2085T>C,NP_000083.3:p.Gly695=,27/48,\N,Unknown significance,\N,synonymous_variant,0.06,0.0000451549,EXAC_NFE_AF,COL4A4
467734,2:227924932:C>T,NM_000092.4:c.2084G>A,NP_000083.3:p.Gly695Asp,27/48,\N,Pathogenic,Alport syndrome,missense_variant,25.4,\N,\N,COL4A4
467735,2:227924937:G>A,NM_000092.4:c.2079C>T,NP_000083.3:p.Pro693=,27/48,\N,Unknown significance,\N,synonymous_variant,1.217,0.00111359,EXAC_OTH_AF,COL4A4
467736,2:227924939:G>A,NM_000092.4:c.2077C>T,NP_000083.3:p.Pro693Ser,27/48,\N,Likely benign,\N,missense_variant,0.368,0.00024263,EXAC_SAS_AF,COL4A4
467737,2:227924941:C>A,NM_000092.4:c.2075G>T,NP_000083.3:p.Gly692Val,27/48,\N,Pathogenic,Alport syndrome,missense_variant,29.5,\N,\N,COL4A4
467738,2:227924943:T>C,NM_000092.4:c.2073A>G,NP_000083.3:p.Pro691=,27/48,\N,Unknown significance,\N,synonymous_variant,1.846,0.00054407,EVS_AA_AF,COL4A4
467739,2:227924944:G>A,NM_000092.4:c.2072C>T,NP_000083.3:p.Pro691Leu,27/48,\N,Unknown significance,\N,missense_variant,25,0.001,1KG_EAS_AF,COL4A4
467740,2:227924946:A>G,NM_000092.4:c.2070T>C,NP_000083.3:p.Phe690=,27/48,\N,Unknown significance,\N,synonymous_variant,8.7,0.0000606649,EXAC_SAS_AF,COL4A4
467741,2:227924955:C>G,NM_000092.4:c.2061G>C,NP_000083.3:p.Pro687=,27/48,\N,Unknown significance,\N,synonymous_variant,14.27,0.0000302033,EXAC_NFE_AF,COL4A4
467742,2:227924955:C>T,NM_000092.4:c.2061G>A,NP_000083.3:p.Pro687=,27/48,\N,Unknown significance,\N,synonymous_variant,16.77,0.0008,1KG_AFR_AF,COL4A4
467743,2:227924956:G>A,NM_000092.4:c.2060C>T,NP_000083.3:p.Pro687Leu,27/48,\N,Likely benign,\N,missense_variant,23.5,0.000207555,EXAC_AFR_AF,COL4A4
467744,2:227924961:T>A,NM_000092.4:c.2057-2A>T,\N,\N,26/47,Unknown significance,\N,splice_acceptor_variant,25.8,\N,\N,COL4A4
467745,2:227924968:T>A,NM_000092.4:c.2057-9A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,15.29,\N,\N,COL4A4
467746,2:227924971:T>A,NM_000092.4:c.2057-12A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.932,\N,\N,COL4A4
467747,2:227924987:A>G,NM_000092.4:c.2057-28T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,13.67,0.000120453,EXAC_EAS_AF,COL4A4
467748,2:227924994:A>G,NM_000092.4:c.2057-35T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,6.905,\N,\N,COL4A4
467749,2:227925008:T>C,NM_000092.4:c.2057-49A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.887,0.0000154641,EXAC_NFE_AF,COL4A4
467750,2:227925024:T>C,NM_000092.4:c.2057-65A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,6.992,\N,\N,COL4A4
467751,2:227925036:A>C,NM_000092.4:c.2057-77T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.338,\N,\N,COL4A4
467752,2:227925066:T>C,NM_000092.4:c.2057-107A>G,\N,\N,26/47,Benign,\N,intron_variant,6.872,0.0091,1KG_AFR_AF,COL4A4
467753,2:227925071:T>G,NM_000092.4:c.2057-112A>C,\N,\N,26/47,Unknown significance,\N,intron_variant,5.673,\N,\N,COL4A4
467754,2:227925097:C>T,NM_000092.4:c.2057-138G>A,\N,\N,26/47,Benign,\N,intron_variant,2.992,0.8707,1KG_AFR_AF,COL4A4
467755,2:227925101:T>A,NM_000092.4:c.2057-142A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,6.888,\N,\N,COL4A4
467756,2:227925126:T>A,NM_000092.4:c.2057-167A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,4.89,0.0014,1KG_AMR_AF,COL4A4
467757,2:227925172:C>T,NM_000092.4:c.2057-213G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,6.046,\N,\N,COL4A4
467758,2:227925176:G>A,NM_000092.4:c.2057-217C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,4.156,\N,\N,COL4A4
467759,2:227925228:A>G,NM_000092.4:c.2057-269T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,3.592,\N,\N,COL4A4
467760,2:227925257:A>G,NM_000092.4:c.2057-298T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,3.077,\N,\N,COL4A4
467761,2:227925274:C>T,NM_000092.4:c.2057-315G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,2.503,\N,\N,COL4A4
467762,2:227925282:C>A,NM_000092.4:c.2057-323G>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.629,0.0023,1KG_AFR_AF,COL4A4
467763,2:227925325:T>C,NM_000092.4:c.2057-366A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.585,\N,\N,COL4A4
467764,2:227925404:A>G,NM_000092.4:c.2057-445T>C,\N,\N,26/47,Benign,\N,intron_variant,7.729,0.1875,1KG_EAS_AF,COL4A4
467765,2:227925418:G>A,NM_000092.4:c.2057-459C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,5.048,0.0041,1KG_SAS_AF,COL4A4
467766,2:227925431:G>C,NM_000092.4:c.2057-472C>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.99,\N,\N,COL4A4
467767,2:227925439:G>T,NM_000092.4:c.2057-480C>A,\N,\N,26/47,Benign,\N,intron_variant,1.522,0.2958,1KG_AFR_AF,COL4A4
467768,2:227925441:ATT>A,NM_000092.4:c.2057-484_2057-483del,\N,\N,26/47,Benign,\N,intron_variant,0.741,0.8162,1KG_AFR_AF,COL4A4
467769,2:227925441:ATTT>A,NM_000092.4:c.2057-485_2057-483del,\N,\N,26/47,Unknown significance,\N,intron_variant,0.52,\N,\N,COL4A4
467770,2:227925441:ATTTT>A,NM_000092.4:c.2057-486_2057-483del,\N,\N,26/47,Unknown significance,\N,intron_variant,0.478,\N,\N,COL4A4
467771,2:227925453:T>A,NM_000092.4:c.2057-494A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,4.546,\N,\N,COL4A4
467772,2:227925474:T>G,NM_000092.4:c.2057-515A>C,\N,\N,26/47,Benign,\N,intron_variant,0.27,0.0257,1KG_AFR_AF,COL4A4
467773,2:227925507:A>G,NM_000092.4:c.2057-548T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,0.315,\N,\N,COL4A4
467774,2:227925512:C>A,NM_000092.4:c.2057-553G>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.704,\N,\N,COL4A4
467775,2:227925544:C>T,NM_000092.4:c.2057-585G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,1.569,\N,\N,COL4A4
467776,2:227925575:C>G,NM_000092.4:c.2057-616G>C,\N,\N,26/47,Benign,\N,intron_variant,2.009,0.0144,1KG_AFR_AF,COL4A4
467777,2:227925592:C>T,NM_000092.4:c.2057-633G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,1.168,0.0023,1KG_AFR_AF,COL4A4
467778,2:227925602:C>T,NM_000092.4:c.2057-643G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,2.3,\N,\N,COL4A4
467779,2:227925643:C>T,NM_000092.4:c.2057-684G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,3.538,0.001,1KG_SAS_AF,COL4A4
467780,2:227925687:C>A,NM_000092.4:c.2057-728G>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.401,0.002,1KG_EAS_AF,COL4A4
467781,2:227925709:T>G,NM_000092.4:c.2057-750A>C,\N,\N,26/47,Benign,\N,intron_variant,3.274,0.7413,1KG_SAS_AF,COL4A4
467782,2:227925715:T>G,NM_000092.4:c.2057-756A>C,\N,\N,26/47,Benign,\N,intron_variant,4.111,0.3147,1KG_AFR_AF,COL4A4
467783,2:227925732:G>A,NM_000092.4:c.2057-773C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.331,0.001,1KG_SAS_AF,COL4A4
467784,2:227925736:C>T,NM_000092.4:c.2057-777G>A,\N,\N,26/47,Benign,\N,intron_variant,2.595,0.1021,1KG_AFR_AF,COL4A4
467785,2:227925781:G>A,NM_000092.4:c.2057-822C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,10.89,0.001,1KG_SAS_AF,COL4A4
467786,2:227925783:G>T,NM_000092.4:c.2057-824C>A,\N,\N,26/47,Unknown significance,\N,intron_variant,9.856,\N,\N,COL4A4
467787,2:227925804:TATAAATC>T,NM_000092.4:c.2057-852_2057-846del,\N,\N,26/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467788,2:227925813:T>C,NM_000092.4:c.2057-854A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.696,\N,\N,COL4A4
467789,2:227925854:T>C,NM_000092.4:c.2057-895A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.877,0.001,1KG_EAS_AF,COL4A4
467790,2:227925867:C>T,NM_000092.4:c.2057-908G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,1.602,0.001,1KG_EAS_AF,COL4A4
467791,2:227925875:C>T,NM_000092.4:c.2057-916G>A,\N,\N,26/47,Benign,\N,intron_variant,0.609,0.0998,1KG_AFR_AF,COL4A4
467792,2:227925900:T>C,NM_000092.4:c.2057-941A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.52,0.001,1KG_EAS_AF,COL4A4
467793,2:227925904:T>A,NM_000092.4:c.2057-945A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.437,0.0031,1KG_SAS_AF,COL4A4
467794,2:227925906:T>C,NM_000092.4:c.2057-947A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.399,0.002,1KG_EUR_AF,COL4A4
467795,2:227925911:C>T,NM_000092.4:c.2057-952G>A,\N,\N,26/47,Benign,\N,intron_variant,0.884,0.0099,1KG_EUR_AF,COL4A4
467796,2:227925926:G>T,NM_000092.4:c.2057-967C>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.148,0.0014,1KG_AMR_AF,COL4A4
467797,2:227925938:G>A,NM_000092.4:c.2057-979C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.124,\N,\N,COL4A4
467798,2:227925969:T>C,NM_000092.4:c.2057-1010A>G,\N,\N,26/47,Benign,\N,intron_variant,0.503,0.8003,1KG_AFR_AF,COL4A4
467799,2:227925977:C>T,NM_000092.4:c.2057-1018G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.222,\N,\N,COL4A4
467800,2:227925978:G>A,NM_000092.4:c.2057-1019C>T,\N,\N,26/47,Benign,\N,intron_variant,0.986,0.0991,1KG_AFR_AF,COL4A4
467801,2:227925991:C>T,NM_000092.4:c.2057-1032G>A,\N,\N,26/47,Benign,\N,intron_variant,0.635,0.2655,1KG_AFR_AF,COL4A4
467802,2:227925992:G>A,NM_000092.4:c.2057-1033C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.365,\N,\N,COL4A4
467803,2:227926001:C>A,NM_000092.4:c.2057-1042G>T,\N,\N,26/47,Unknown significance,\N,intron_variant,4.167,\N,\N,COL4A4
467804,2:227926001:C>G,NM_000092.4:c.2057-1042G>C,\N,\N,26/47,Unknown significance,\N,intron_variant,2.765,0.001,1KG_EUR_AF,COL4A4
467805,2:227926058:A>G,NM_000092.4:c.2057-1099T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,12.74,\N,\N,COL4A4
467806,2:227926108:G>A,NM_000092.4:c.2056+1138C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.757,\N,\N,COL4A4
467807,2:227926114:G>A,NM_000092.4:c.2056+1132C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.198,\N,\N,COL4A4
467808,2:227926115:A>C,NM_000092.4:c.2056+1131T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.251,\N,\N,COL4A4
467809,2:227926147:A>C,NM_000092.4:c.2056+1099T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.439,\N,\N,COL4A4
467810,2:227926161:A>T,NM_000092.4:c.2056+1085T>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.715,0.001,1KG_EAS_AF,COL4A4
467811,2:227926168:A>G,NM_000092.4:c.2056+1078T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,1.518,\N,\N,COL4A4
467812,2:227926187:G>C,NM_000092.4:c.2056+1059C>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.12,\N,\N,COL4A4
467813,2:227926193:T>C,NM_000092.4:c.2056+1053A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.491,\N,\N,COL4A4
467814,2:227926205:A>G,NM_000092.4:c.2056+1041T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,1.995,0.001,1KG_EAS_AF,COL4A4
467815,2:227926220:C>T,NM_000092.4:c.2056+1026G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,3.267,0.0008,1KG_AFR_AF,COL4A4
467816,2:227926255:G>A,NM_000092.4:c.2056+991C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,3.763,\N,\N,COL4A4
467817,2:227926262:C>T,NM_000092.4:c.2056+984G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,3.854,0.0008,1KG_AFR_AF,COL4A4
467818,2:227926283:AAGAT>A,NM_000092.4:c.2056+959_2056+962del,\N,\N,26/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467819,2:227926303:G>T,NM_000092.4:c.2056+943C>A,\N,\N,26/47,Unknown significance,\N,intron_variant,2.348,0.0014,1KG_AMR_AF,COL4A4
467820,2:227926364:A>C,NM_000092.4:c.2056+882T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.653,0.0031,1KG_SAS_AF,COL4A4
467821,2:227926404:G>A,NM_000092.4:c.2056+842C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.023,0.001,1KG_EAS_AF,COL4A4
467822,2:227926406:G>A,NM_000092.4:c.2056+840C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.294,\N,\N,COL4A4
467823,2:227926415:T>G,NM_000092.4:c.2056+831A>C,\N,\N,26/47,Benign,\N,intron_variant,8.491,0.0076,1KG_AFR_AF,COL4A4
467824,2:227926425:CAAA>C,NM_000092.4:c.2056+818_2056+820del,\N,\N,26/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467825,2:227926440:C>T,NM_000092.4:c.2056+806G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,3.705,\N,\N,COL4A4
467826,2:227926444:ATATCT>A,NM_000092.4:c.2056+797_2056+801del,\N,\N,26/47,Benign,\N,intron_variant,6.587,0.1029,1KG_AFR_AF,COL4A4
467827,2:227926483:A>C,NM_000092.4:c.2056+763T>G,\N,\N,26/47,Benign,\N,intron_variant,0.312,0.0159,1KG_EAS_AF,COL4A4
467828,2:227926513:G>A,NM_000092.4:c.2056+733C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.125,0.0008,1KG_AFR_AF,COL4A4
467829,2:227926544:C>T,NM_000092.4:c.2056+702G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,4.048,0.001,1KG_SAS_AF,COL4A4
467830,2:227926567:C>T,NM_000092.4:c.2056+679G>A,\N,\N,26/47,Benign,\N,intron_variant,1.818,0.1672,1KG_AFR_AF,COL4A4
467831,2:227926597:T>TA,NM_000092.4:c.2056+648dup,\N,\N,26/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467832,2:227926620:T>C,NM_000092.4:c.2056+626A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.142,\N,\N,COL4A4
467833,2:227926621:G>T,NM_000092.4:c.2056+625C>A,\N,\N,26/47,Benign,\N,intron_variant,2.326,0.8011,1KG_AFR_AF,COL4A4
467834,2:227926680:G>A,NM_000092.4:c.2056+566C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.552,0.001,1KG_EUR_AF,COL4A4
467835,2:227926681:T>C,NM_000092.4:c.2056+565A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.606,\N,\N,COL4A4
467836,2:227926682:G>A,NM_000092.4:c.2056+564C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.205,\N,\N,COL4A4
467837,2:227926684:G>A,NM_000092.4:c.2056+562C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.157,0.0015,1KG_AFR_AF,COL4A4
467838,2:227926705:C>A,NM_000092.4:c.2056+541G>T,\N,\N,26/47,Benign,\N,intron_variant,0.369,0.8011,1KG_AFR_AF,COL4A4
467839,2:227926722:G>A,NM_000092.4:c.2056+524C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.058,0.002,1KG_EAS_AF,COL4A4
467840,2:227926730:C>T,NM_000092.4:c.2056+516G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.029,0.0008,1KG_AFR_AF,COL4A4
467841,2:227926731:G>A,NM_000092.4:c.2056+515C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,1.634,0.001,1KG_EAS_AF,COL4A4
467842,2:227926752:A>G,NM_000092.4:c.2056+494T>C,\N,\N,26/47,Benign,\N,intron_variant,0.028,0.8933,1KG_AFR_AF,COL4A4
467843,2:227926756:C>A,NM_000092.4:c.2056+490G>T,\N,\N,26/47,Benign,\N,intron_variant,0.912,0.0083,1KG_AFR_AF,COL4A4
467844,2:227926773:G>T,NM_000092.4:c.2056+473C>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.615,\N,\N,COL4A4
467845,2:227926787:C>T,NM_000092.4:c.2056+459G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,2.175,0.0041,1KG_SAS_AF,COL4A4
467846,2:227926791:T>C,NM_000092.4:c.2056+455A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.551,0.001,1KG_EAS_AF,COL4A4
467847,2:227926804:A>T,NM_000092.4:c.2056+442T>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.055,0.0008,1KG_AFR_AF,COL4A4
467848,2:227926810:C>T,NM_000092.4:c.2056+436G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.427,\N,\N,COL4A4
467849,2:227926811:G>A,NM_000092.4:c.2056+435C>T,\N,\N,26/47,Benign,\N,intron_variant,1.837,0.3722,1KG_SAS_AF,COL4A4
467850,2:227926816:C>T,NM_000092.4:c.2056+430G>A,\N,\N,26/47,Benign,\N,intron_variant,0.049,0.8018,1KG_AFR_AF,COL4A4
467851,2:227926820:G>A,NM_000092.4:c.2056+426C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.028,0.002,1KG_EAS_AF,COL4A4
467852,2:227926823:G>A,NM_000092.4:c.2056+423C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.368,0.001,1KG_EAS_AF,COL4A4
467853,2:227926852:A>C,NM_000092.4:c.2056+394T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.345,0.001,1KG_EUR_AF,COL4A4
467854,2:227926860:G>A,NM_000092.4:c.2056+386C>T,\N,\N,26/47,Benign,\N,intron_variant,1.174,0.8018,1KG_AFR_AF,COL4A4
467855,2:227926867:TC>T,NM_000092.4:c.2056+378del,\N,\N,26/47,Unknown significance,\N,intron_variant,0.239,0.0038,1KG_AFR_AF,COL4A4
467856,2:227926870:T>C,NM_000092.4:c.2056+376A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,1.517,0.0041,1KG_SAS_AF,COL4A4
467857,2:227926873:A>G,NM_000092.4:c.2056+373T>C,\N,\N,26/47,Benign,\N,intron_variant,2.386,0.8011,1KG_AFR_AF,COL4A4
467858,2:227926909:C>T,NM_000092.4:c.2056+337G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,0.903,\N,\N,COL4A4
467859,2:227926928:G>A,NM_000092.4:c.2056+318C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,0.846,0.001,1KG_EAS_AF,COL4A4
467860,2:227926934:CA>C,NM_000092.4:c.2056+311del,\N,\N,26/47,Benign,\N,intron_variant,7.047,0.046,1KG_SAS_AF,COL4A4
467861,2:227926952:CA>C,NM_000092.4:c.2056+293del,\N,\N,26/47,Unknown significance,\N,intron_variant,5.53,\N,\N,COL4A4
467862,2:227926952:CAA>C,NM_000092.4:c.2056+292_2056+293del,\N,\N,26/47,Benign,\N,intron_variant,5.411,0.7716,1KG_AFR_AF,COL4A4
467863,2:227926952:CAAA>C,NM_000092.4:c.2056+291_2056+293del,\N,\N,26/47,Unknown significance,\N,intron_variant,5.248,\N,\N,COL4A4
467864,2:227926954:A>C,NM_000092.4:c.2056+292T>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.071,\N,\N,COL4A4
467865,2:227926998:T>C,NM_000092.4:c.2056+248A>G,\N,\N,26/47,Benign,\N,intron_variant,1.426,0.8011,1KG_AFR_AF,COL4A4
467866,2:227927024:T>A,NM_000092.4:c.2056+222A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,7.194,\N,\N,COL4A4
467867,2:227927047:T>C,NM_000092.4:c.2056+199A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,2.888,0.0041,1KG_SAS_AF,COL4A4
467868,2:227927057:T>A,NM_000092.4:c.2056+189A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,2.108,\N,\N,COL4A4
467869,2:227927090:A>G,NM_000092.4:c.2056+156T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,3.197,\N,\N,COL4A4
467870,2:227927113:C>T,NM_000092.4:c.2056+133G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,4.341,0.001,1KG_EUR_AF,COL4A4
467871,2:227927119:A>G,NM_000092.4:c.2056+127T>C,\N,\N,26/47,Unknown significance,\N,intron_variant,1.511,\N,\N,COL4A4
467872,2:227927170:T>G,NM_000092.4:c.2056+76A>C,\N,\N,26/47,Benign,\N,intron_variant,8.248,0.0083,1KG_AFR_AF,COL4A4
467873,2:227927184:G>A,NM_000092.4:c.2056+62C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,3.55,0.0038,1KG_AFR_AF,COL4A4
467874,2:227927189:GT>G,NM_000092.4:c.2056+56del,\N,\N,26/47,Benign,\N,intron_variant,0.43,0.638,1KG_SAS_AF,COL4A4
467875,2:227927202:T>A,NM_000092.4:c.2056+44A>T,\N,\N,26/47,Unknown significance,\N,intron_variant,5.907,\N,\N,COL4A4
467876,2:227927202:T>C,NM_000092.4:c.2056+44A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,3.759,0.001,1KG_SAS_AF,COL4A4
467877,2:227927204:C>A,NM_000092.4:c.2056+42G>T,\N,\N,26/47,Unknown significance,\N,intron_variant,4.659,0.00119904,EXAC_OTH_AF,COL4A4
467878,2:227927210:G>T,NM_000092.4:c.2056+36C>A,\N,\N,26/47,Unknown significance,\N,intron_variant,1.947,0.0000937559,EXAC_AMR_AF,COL4A4
467879,2:227927213:G>A,NM_000092.4:c.2056+33C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,3.492,0.000127747,EXAC_EAS_AF,COL4A4
467880,2:227927213:G>C,NM_000092.4:c.2056+33C>G,\N,\N,26/47,Unknown significance,\N,intron_variant,0.518,0.000384763,EXAC_SAS_AF,COL4A4
467881,2:227927216:T>C,NM_000092.4:c.2056+30A>G,\N,\N,26/47,Unknown significance,\N,intron_variant,4.725,0.0000638488,EXAC_SAS_AF,COL4A4
467882,2:227927223:C>T,NM_000092.4:c.2056+23G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,6.163,0.000323137,EXAC_AFR_AF,COL4A4
467883,2:227927225:G>A,NM_000092.4:c.2056+21C>T,\N,\N,26/47,Unknown significance,\N,intron_variant,6.292,0.000107112,EXAC_AFR_AF,COL4A4
467884,2:227927232:C>T,NM_000092.4:c.2056+14G>A,\N,\N,26/47,Unknown significance,\N,intron_variant,5.168,0.000119446,EXAC_EAS_AF,COL4A4
467885,2:227927236:T>C,NM_000092.4:c.2056+10A>G,\N,\N,26/47,Benign,\N,intron_variant,5.013,0.00587248,EXAC_AFR_AF,COL4A4
467886,2:227927240:T>C,NM_000092.4:c.2056+6A>G,\N,\N,26/47,Unknown significance,\N,splice_region_variant&intron_variant,5.536,0.0000619118,EXAC_SAS_AF,COL4A4
467887,2:227927241:A>G,NM_000092.4:c.2056+5T>C,\N,\N,26/47,Unknown significance,\N,splice_region_variant&intron_variant,5.57,0.000122549,EVS_EA_AF,COL4A4
467888,2:227927242:A>G,NM_000092.4:c.2056+4T>C,\N,\N,26/47,Unknown significance,\N,splice_region_variant&intron_variant,5.779,0.0000879044,EXAC_AMR_AF,COL4A4
467889,2:227927243:T>C,NM_000092.4:c.2056+3A>G,\N,\N,26/47,Unknown significance,\N,splice_region_variant&intron_variant,13.04,0.000117398,EXAC_EAS_AF,COL4A4
467890,2:227927249:G>A,NM_000092.4:c.2053C>T,NP_000083.3:p.Pro685Ser,26/48,\N,Unknown significance,\N,missense_variant,24.6,0.000174672,EXAC_AMR_AF,COL4A4
467891,2:227927251:G>C,NM_000092.4:c.2051C>G,NP_000083.3:p.Pro684Arg,26/48,\N,Likely benign,\N,missense_variant,23.6,0.0000150734,EXAC_NFE_AF,COL4A4
467892,2:227927253:T>C,NM_000092.4:c.2049A>G,NP_000083.3:p.Gly683=,26/48,\N,Unknown significance,\N,synonymous_variant,5.998,0.00012213,EVS_EA_AF,COL4A4
467893,2:227927257:T>C,NM_000092.4:c.2045A>G,NP_000083.3:p.Asp682Gly,26/48,\N,Pathogenic,Deafness,missense_variant,24,0.002,1KG_EAS_AF,COL4A4
467894,2:227927268:A>G,NM_000092.4:c.2034T>C,NP_000083.3:p.Pro678=,26/48,\N,Unknown significance,\N,synonymous_variant,6.963,\N,\N,COL4A4
467895,2:227927275:T>C,NM_000092.4:c.2027A>G,NP_000083.3:p.His676Arg,26/48,\N,Likely benign,\N,missense_variant,8.638,0.0001221,EVS_EA_AF,COL4A4
467896,2:227927275:T>G,NM_000092.4:c.2027A>C,NP_000083.3:p.His676Pro,26/48,\N,Likely benign,\N,missense_variant,0.797,0.0000150227,EXAC_NFE_AF,COL4A4
467897,2:227927277:C>T,NM_000092.4:c.2025G>A,NP_000083.3:p.Arg675=,26/48,\N,Unknown significance,\N,synonymous_variant,10.74,\N,\N,COL4A4
467898,2:227927285:G>A,NM_000092.4:c.2017C>T,NP_000083.3:p.Pro673Ser,26/48,\N,Unknown significance,\N,missense_variant,23.1,0.0000150299,EXAC_NFE_AF,COL4A4
467899,2:227927285:G>C,NM_000092.4:c.2017C>G,NP_000083.3:p.Pro673Ala,26/48,\N,Unknown significance,\N,missense_variant,19.77,0.0000601196,EXAC_NFE_AF,COL4A4
467900,2:227927289:G>C,NM_000092.4:c.2013C>G,NP_000083.3:p.Thr671=,26/48,\N,Unknown significance,\N,synonymous_variant,0.117,0.0000150326,EXAC_NFE_AF,COL4A4
467901,2:227927294:C>T,NM_000092.4:c.2008G>A,NP_000083.3:p.Val670Ile,26/48,\N,Benign,\N,missense_variant,10.78,0.0552,1KG_AFR_AF,COL4A4
467902,2:227927295:G>A,NM_000092.4:c.2007C>T,NP_000083.3:p.Asn669=,26/48,\N,Unknown significance,\N,synonymous_variant,1.084,0.000122085,EXAC_SAS_AF,COL4A4
467903,2:227927312:C>T,NM_000092.4:c.1990G>A,NP_000083.3:p.Asp664Asn,26/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.3,0.001,1KG_EUR_AF,COL4A4
467904,2:227927317:G>A,NM_000092.4:c.1988-3C>T,\N,\N,25/47,Unknown significance,\N,splice_region_variant&intron_variant,7.313,0.0000151382,EXAC_NFE_AF,COL4A4
467905,2:227927318:C>T,NM_000092.4:c.1988-4G>A,\N,\N,25/47,Unknown significance,\N,splice_region_variant&intron_variant,0.739,0.0000302911,EXAC_NFE_AF,COL4A4
467906,2:227927321:T>C,NM_000092.4:c.1988-7A>G,\N,\N,25/47,Unknown significance,\N,splice_region_variant&intron_variant,0.764,0.0000615764,EXAC_SAS_AF,COL4A4
467907,2:227927321:T>G,NM_000092.4:c.1988-7A>C,\N,\N,25/47,Unknown significance,\N,splice_region_variant&intron_variant,1.917,0.0000151699,EXAC_NFE_AF,COL4A4
467908,2:227927335:C>T,NM_000092.4:c.1988-21G>A,\N,\N,25/47,Benign,\N,intron_variant,1.646,0.0082,1KG_SAS_AF,COL4A4
467909,2:227927336:G>A,NM_000092.4:c.1988-22C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.599,0.00143816,EXAC_EAS_AF,COL4A4
467910,2:227927336:G>T,NM_000092.4:c.1988-22C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.671,0.000104581,EXAC_AFR_AF,COL4A4
467911,2:227927346:T>A,NM_000092.4:c.1988-32A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,15.8,0.000124456,EXAC_SAS_AF,COL4A4
467912,2:227927348:A>G,NM_000092.4:c.1988-34T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,15.47,0.0000153695,EXAC_NFE_AF,COL4A4
467913,2:227927351:G>T,NM_000092.4:c.1988-37C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,13.88,0.0000154154,EXAC_NFE_AF,COL4A4
467914,2:227927355:G>T,NM_000092.4:c.1988-41C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,13.22,0.000015466,EXAC_NFE_AF,COL4A4
467915,2:227927360:G>A,NM_000092.4:c.1988-46C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.308,0.0000465766,EXAC_NFE_AF,COL4A4
467916,2:227927361:T>C,NM_000092.4:c.1988-47A>G,\N,\N,25/47,Benign,\N,intron_variant,3.189,0.0227,1KG_AFR_AF,COL4A4
467917,2:227927362:G>T,NM_000092.4:c.1988-48C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.345,0.000265111,EVS_AA_AF,COL4A4
467918,2:227927412:A>G,NM_000092.4:c.1988-98T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.002,0.001,1KG_EAS_AF,COL4A4
467919,2:227927443:T>C,NM_000092.4:c.1988-129A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,13.63,0.001,1KG_EUR_AF,COL4A4
467920,2:227927456:T>G,NM_000092.4:c.1988-142A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.859,0.0031,1KG_SAS_AF,COL4A4
467921,2:227927487:T>C,NM_000092.4:c.1988-173A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.954,\N,\N,COL4A4
467922,2:227927536:C>T,NM_000092.4:c.1988-222G>A,\N,\N,25/47,Benign,\N,intron_variant,3.612,0.7413,1KG_SAS_AF,COL4A4
467923,2:227927651:T>C,NM_000092.4:c.1988-337A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.217,\N,\N,COL4A4
467924,2:227927673:A>G,NM_000092.4:c.1988-359T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,7.05,\N,\N,COL4A4
467925,2:227927690:T>C,NM_000092.4:c.1988-376A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,3.207,0.0008,1KG_AFR_AF,COL4A4
467926,2:227927702:T>C,NM_000092.4:c.1988-388A>G,\N,\N,25/47,Benign,\N,intron_variant,0.876,0.053,1KG_AFR_AF,COL4A4
467927,2:227927787:A>G,NM_000092.4:c.1988-473T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.261,0.0015,1KG_AFR_AF,COL4A4
467928,2:227927790:T>C,NM_000092.4:c.1988-476A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.978,\N,\N,COL4A4
467929,2:227927797:G>T,NM_000092.4:c.1988-483C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.052,0.0045,1KG_AFR_AF,COL4A4
467930,2:227927815:A>T,NM_000092.4:c.1988-501T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.072,0.0008,1KG_AFR_AF,COL4A4
467931,2:227927827:T>C,NM_000092.4:c.1988-513A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.058,\N,\N,COL4A4
467932,2:227927832:G>T,NM_000092.4:c.1988-518C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.157,0.001,1KG_SAS_AF,COL4A4
467933,2:227927875:A>G,NM_000092.4:c.1988-561T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.479,0.001,1KG_SAS_AF,COL4A4
467934,2:227927881:T>C,NM_000092.4:c.1988-567A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.434,0.0008,1KG_AFR_AF,COL4A4
467935,2:227927888:A>T,NM_000092.4:c.1988-574T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.981,\N,\N,COL4A4
467936,2:227927894:C>A,NM_000092.4:c.1988-580G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.117,\N,\N,COL4A4
467937,2:227927936:G>C,NM_000092.4:c.1988-622C>G,\N,\N,25/47,Benign,\N,intron_variant,0.175,0.8018,1KG_AFR_AF,COL4A4
467938,2:227927947:TGAAA>T,NM_000092.4:c.1988-637_1988-634del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467939,2:227927951:A>T,NM_000092.4:c.1988-637T>A,\N,\N,25/47,Benign,\N,intron_variant,0.302,0.8011,1KG_AFR_AF,COL4A4
467940,2:227927966:A>T,NM_000092.4:c.1988-652T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.492,\N,\N,COL4A4
467941,2:227928027:C>T,NM_000092.4:c.1988-713G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.133,0.0008,1KG_AFR_AF,COL4A4
467942,2:227928063:A>T,NM_000092.4:c.1988-749T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.162,\N,\N,COL4A4
467943,2:227928099:C>T,NM_000092.4:c.1988-785G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.129,\N,\N,COL4A4
467944,2:227928102:A>G,NM_000092.4:c.1988-788T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.811,0.002,1KG_EUR_AF|1KG_SAS_AF,COL4A4
467945,2:227928132:G>T,NM_000092.4:c.1988-818C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.192,0.0015,1KG_AFR_AF,COL4A4
467946,2:227928146:C>T,NM_000092.4:c.1988-832G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.108,\N,\N,COL4A4
467947,2:227928302:T>C,NM_000092.4:c.1988-988A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,8.069,\N,\N,COL4A4
467948,2:227928324:T>G,NM_000092.4:c.1988-1010A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.838,0.001,1KG_EUR_AF,COL4A4
467949,2:227928353:C>A,NM_000092.4:c.1988-1039G>T,\N,\N,25/47,Benign,\N,intron_variant,5.934,0.0051,1KG_SAS_AF,COL4A4
467950,2:227928371:T>A,NM_000092.4:c.1988-1057A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.509,\N,\N,COL4A4
467951,2:227928382:TA>T,NM_000092.4:c.1988-1069del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467952,2:227928417:A>G,NM_000092.4:c.1988-1103T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,10.58,0.003,1KG_AFR_AF,COL4A4
467953,2:227928444:A>G,NM_000092.4:c.1988-1130T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,9.006,\N,\N,COL4A4
467954,2:227928470:G>C,NM_000092.4:c.1988-1156C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.393,0.001,1KG_EAS_AF,COL4A4
467955,2:227928475:T>A,NM_000092.4:c.1988-1161A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.452,0.0014,1KG_AMR_AF,COL4A4
467956,2:227928488:A>T,NM_000092.4:c.1988-1174T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.821,0.0014,1KG_AMR_AF,COL4A4
467957,2:227928523:C>G,NM_000092.4:c.1988-1209G>C,\N,\N,25/47,Benign,\N,intron_variant,0.676,0.0169,1KG_EUR_AF,COL4A4
467958,2:227928565:A>C,NM_000092.4:c.1988-1251T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,7.907,0.001,1KG_EUR_AF,COL4A4
467959,2:227928577:G>C,NM_000092.4:c.1988-1263C>G,\N,\N,25/47,Benign,\N,intron_variant,13.19,0.0169,1KG_EUR_AF,COL4A4
467960,2:227928633:A>G,NM_000092.4:c.1988-1319T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.594,\N,\N,COL4A4
467961,2:227928640:C>A,NM_000092.4:c.1988-1326G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.823,0.0014,1KG_AMR_AF,COL4A4
467962,2:227928647:G>T,NM_000092.4:c.1988-1333C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.58,\N,\N,COL4A4
467963,2:227928655:A>G,NM_000092.4:c.1988-1341T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.528,\N,\N,COL4A4
467964,2:227928657:C>T,NM_000092.4:c.1988-1343G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.929,\N,\N,COL4A4
467965,2:227928677:A>G,NM_000092.4:c.1988-1363T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,7.486,0.0008,1KG_AFR_AF,COL4A4
467966,2:227928687:T>C,NM_000092.4:c.1988-1373A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,4.273,0.0008,1KG_AFR_AF,COL4A4
467967,2:227928720:G>T,NM_000092.4:c.1988-1406C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.973,0.001,1KG_EAS_AF,COL4A4
467968,2:227928740:A>T,NM_000092.4:c.1988-1426T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.912,0.0015,1KG_AFR_AF,COL4A4
467969,2:227928804:T>TC,NM_000092.4:c.1988-1491dup,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467970,2:227928843:A>T,NM_000092.4:c.1988-1529T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,5.236,\N,\N,COL4A4
467971,2:227928860:G>A,NM_000092.4:c.1988-1546C>T,\N,\N,25/47,Benign,\N,intron_variant,1.209,0.0053,1KG_AFR_AF,COL4A4
467972,2:227928890:T>C,NM_000092.4:c.1988-1576A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.832,\N,\N,COL4A4
467973,2:227928897:T>C,NM_000092.4:c.1988-1583A>G,\N,\N,25/47,Benign,\N,intron_variant,2.612,0.0257,1KG_AFR_AF,COL4A4
467974,2:227928933:G>A,NM_000092.4:c.1988-1619C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.35,\N,\N,COL4A4
467975,2:227928945:C>T,NM_000092.4:c.1988-1631G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.015,0.001,1KG_EUR_AF,COL4A4
467976,2:227928977:A>G,NM_000092.4:c.1988-1663T>C,\N,\N,25/47,Benign,\N,intron_variant,9.122,0.0552,1KG_AFR_AF,COL4A4
467977,2:227929008:T>C,NM_000092.4:c.1988-1694A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,18.07,\N,\N,COL4A4
467978,2:227929014:A>T,NM_000092.4:c.1988-1700T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,17.8,\N,\N,COL4A4
467979,2:227929037:C>T,NM_000092.4:c.1988-1723G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,12.94,0.0023,1KG_AFR_AF,COL4A4
467980,2:227929109:T>C,NM_000092.4:c.1988-1795A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.208,\N,\N,COL4A4
467981,2:227929131:C>A,NM_000092.4:c.1988-1817G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.312,0.0008,1KG_AFR_AF,COL4A4
467982,2:227929213:C>T,NM_000092.4:c.1988-1899G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.174,\N,\N,COL4A4
467983,2:227929218:G>A,NM_000092.4:c.1988-1904C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.129,0.0029,1KG_AMR_AF,COL4A4
467984,2:227929265:C>A,NM_000092.4:c.1988-1951G>T,\N,\N,25/47,Benign,\N,intron_variant,2.52,0.0227,1KG_AFR_AF,COL4A4
467985,2:227929286:A>G,NM_000092.4:c.1988-1972T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.096,\N,\N,COL4A4
467986,2:227929323:A>G,NM_000092.4:c.1988-2009T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.986,0.0008,1KG_AFR_AF,COL4A4
467987,2:227929326:G>C,NM_000092.4:c.1988-2012C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.844,0.0014,1KG_AMR_AF,COL4A4
467988,2:227929362:G>GT,NM_000092.4:c.1988-2049dup,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
467989,2:227929393:T>C,NM_000092.4:c.1988-2079A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.287,\N,\N,COL4A4
467990,2:227929441:C>T,NM_000092.4:c.1988-2127G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.749,0.001,1KG_EAS_AF,COL4A4
467991,2:227929474:G>A,NM_000092.4:c.1988-2160C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.683,\N,\N,COL4A4
467992,2:227929480:G>A,NM_000092.4:c.1988-2166C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.731,0.001,1KG_SAS_AF,COL4A4
467993,2:227929486:C>T,NM_000092.4:c.1988-2172G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,6.911,0.0015,1KG_AFR_AF,COL4A4
467994,2:227929542:A>G,NM_000092.4:c.1988-2228T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.966,\N,\N,COL4A4
467995,2:227929543:A>G,NM_000092.4:c.1988-2229T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,7.128,\N,\N,COL4A4
467996,2:227929555:G>A,NM_000092.4:c.1988-2241C>T,\N,\N,25/47,Benign,\N,intron_variant,2.167,0.0072,1KG_SAS_AF,COL4A4
467997,2:227929568:T>C,NM_000092.4:c.1988-2254A>G,\N,\N,25/47,Benign,\N,intron_variant,1.17,0.005,1KG_EUR_AF,COL4A4
467998,2:227929608:G>T,NM_000092.4:c.1988-2294C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.63,\N,\N,COL4A4
467999,2:227929609:C>T,NM_000092.4:c.1988-2295G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.311,0.0008,1KG_AFR_AF,COL4A4
468000,2:227929610:C>T,NM_000092.4:c.1988-2296G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.704,\N,\N,COL4A4
468001,2:227929611:G>A,NM_000092.4:c.1988-2297C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.977,\N,\N,COL4A4
468002,2:227929614:T>TA,NM_000092.4:c.1988-2301dup,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468003,2:227929616:G>C,NM_000092.4:c.1988-2302C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.293,0.0015,1KG_AFR_AF,COL4A4
468004,2:227929644:G>A,NM_000092.4:c.1988-2330C>T,\N,\N,25/47,Benign,\N,intron_variant,0.9,0.0643,1KG_AFR_AF,COL4A4
468005,2:227929647:C>A,NM_000092.4:c.1988-2333G>T,\N,\N,25/47,Benign,\N,intron_variant,1.187,0.8676,1KG_AFR_AF,COL4A4
468006,2:227929647:C>T,NM_000092.4:c.1988-2333G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.218,0.0045,1KG_AFR_AF,COL4A4
468007,2:227929648:G>C,NM_000092.4:c.1988-2334C>G,\N,\N,25/47,Benign,\N,intron_variant,0.139,0.3859,1KG_EAS_AF,COL4A4
468008,2:227929652:C>G,NM_000092.4:c.1988-2338G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.57,\N,\N,COL4A4
468009,2:227929664:G>A,NM_000092.4:c.1988-2350C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.147,0.001,1KG_EAS_AF,COL4A4
468010,2:227929683:C>A,NM_000092.4:c.1988-2369G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.338,0.0038,1KG_AFR_AF,COL4A4
468011,2:227929696:T>A,NM_000092.4:c.1988-2382A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.688,0.0008,1KG_AFR_AF,COL4A4
468012,2:227929704:A>T,NM_000092.4:c.1988-2390T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.766,\N,\N,COL4A4
468013,2:227929731:G>A,NM_000092.4:c.1988-2417C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.691,0.003,1KG_AFR_AF,COL4A4
468014,2:227929739:GGTGCGCGCACC>G,NM_000092.4:c.1988-2436_1988-2426del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468015,2:227929751:G>C,NM_000092.4:c.1988-2437C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.157,0.0008,1KG_AFR_AF,COL4A4
468016,2:227929755:A>T,NM_000092.4:c.1988-2441T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.132,\N,\N,COL4A4
468017,2:227929834:G>C,NM_000092.4:c.1988-2520C>G,\N,\N,25/47,Benign,\N,intron_variant,0.211,0.0218,1KG_EAS_AF,COL4A4
468018,2:227929860:C>T,NM_000092.4:c.1988-2546G>A,\N,\N,25/47,Benign,\N,intron_variant,3.954,0.3472,1KG_AFR_AF,COL4A4
468019,2:227929862:G>A,NM_000092.4:c.1988-2548C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.374,\N,\N,COL4A4
468020,2:227929868:T>C,NM_000092.4:c.1988-2554A>G,\N,\N,25/47,Benign,\N,intron_variant,0.58,0.0234,1KG_AFR_AF,COL4A4
468021,2:227929895:C>T,NM_000092.4:c.1988-2581G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,5.211,\N,\N,COL4A4
468022,2:227929901:T>A,NM_000092.4:c.1988-2587A>T,\N,\N,25/47,Benign,\N,intron_variant,2.837,0.005,1KG_EUR_AF,COL4A4
468023,2:227929905:A>G,NM_000092.4:c.1988-2591T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.148,0.0008,1KG_AFR_AF,COL4A4
468024,2:227929909:G>C,NM_000092.4:c.1988-2595C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.741,0.0008,1KG_AFR_AF,COL4A4
468025,2:227929912:G>A,NM_000092.4:c.1988-2598C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.638,0.002,1KG_EAS_AF,COL4A4
468026,2:227929913:C>T,NM_000092.4:c.1988-2599G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.697,0.0008,1KG_AFR_AF,COL4A4
468027,2:227929924:C>G,NM_000092.4:c.1988-2610G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.833,0.0015,1KG_AFR_AF,COL4A4
468028,2:227929929:C>A,NM_000092.4:c.1988-2615G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.16,0.003,1KG_AFR_AF,COL4A4
468029,2:227929932:G>C,NM_000092.4:c.1988-2618C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.909,\N,\N,COL4A4
468030,2:227929935:C>T,NM_000092.4:c.1988-2621G>A,\N,\N,25/47,Benign,\N,intron_variant,4.14,0.1422,1KG_AFR_AF,COL4A4
468031,2:227929943:G>A,NM_000092.4:c.1988-2629C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.17,0.004,1KG_EUR_AF,COL4A4
468032,2:227929955:G>T,NM_000092.4:c.1988-2641C>A,\N,\N,25/47,Benign,\N,intron_variant,1.08,0.005,1KG_EUR_AF,COL4A4
468033,2:227929956:C>T,NM_000092.4:c.1988-2642G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.526,0.0014,1KG_AMR_AF,COL4A4
468034,2:227929972:C>T,NM_000092.4:c.1988-2658G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.906,0.002,1KG_EUR_AF,COL4A4
468035,2:227929987:T>C,NM_000092.4:c.1988-2673A>G,\N,\N,25/47,Benign,\N,intron_variant,1.031,0.0726,1KG_AFR_AF,COL4A4
468036,2:227930001:G>T,NM_000092.4:c.1988-2687C>A,\N,\N,25/47,Benign,\N,intron_variant,1.627,0.2103,1KG_AFR_AF,COL4A4
468037,2:227930006:C>T,NM_000092.4:c.1988-2692G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.529,0.0045,1KG_AFR_AF,COL4A4
468038,2:227930009:G>C,NM_000092.4:c.1988-2695C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.288,0.0045,1KG_AFR_AF,COL4A4
468039,2:227930084:G>A,NM_000092.4:c.1988-2770C>T,\N,\N,25/47,Benign,\N,intron_variant,0.799,0.0079,1KG_EAS_AF,COL4A4
468040,2:227930103:G>A,NM_000092.4:c.1988-2789C>T,\N,\N,25/47,Benign,\N,intron_variant,0.955,0.0711,1KG_AFR_AF,COL4A4
468041,2:227930114:G>A,NM_000092.4:c.1988-2800C>T,\N,\N,25/47,Benign,\N,intron_variant,1.03,0.0083,1KG_AFR_AF,COL4A4
468042,2:227930128:C>T,NM_000092.4:c.1988-2814G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.492,0.0015,1KG_AFR_AF,COL4A4
468043,2:227930188:T>G,NM_000092.4:c.1988-2874A>C,\N,\N,25/47,Benign,\N,intron_variant,1.185,0.0083,1KG_AFR_AF,COL4A4
468044,2:227930205:T>C,NM_000092.4:c.1988-2891A>G,\N,\N,25/47,Benign,\N,intron_variant,0.249,0.0129,1KG_EUR_AF,COL4A4
468045,2:227930207:T>A,NM_000092.4:c.1988-2893A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.994,0.001,1KG_SAS_AF,COL4A4
468046,2:227930227:C>G,NM_000092.4:c.1988-2913G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.492,0.0023,1KG_AFR_AF,COL4A4
468047,2:227930234:A>G,NM_000092.4:c.1988-2920T>C,\N,\N,25/47,Benign,\N,intron_variant,1.092,0.0061,1KG_SAS_AF,COL4A4
468048,2:227930254:A>G,NM_000092.4:c.1988-2940T>C,\N,\N,25/47,Benign,\N,intron_variant,0.492,0.0082,1KG_SAS_AF,COL4A4
468049,2:227930255:G>C,NM_000092.4:c.1988-2941C>G,\N,\N,25/47,Benign,\N,intron_variant,0.163,0.0257,1KG_AFR_AF,COL4A4
468050,2:227930261:C>T,NM_000092.4:c.1988-2947G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.097,\N,\N,COL4A4
468051,2:227930262:T>C,NM_000092.4:c.1988-2948A>G,\N,\N,25/47,Benign,\N,intron_variant,0.689,0.0159,1KG_AFR_AF,COL4A4
468052,2:227930290:G>C,NM_000092.4:c.1988-2976C>G,\N,\N,25/47,Benign,\N,intron_variant,0.151,0.0053,1KG_AFR_AF,COL4A4
468053,2:227930294:C>T,NM_000092.4:c.1988-2980G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.201,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
468054,2:227930295:C>A,NM_000092.4:c.1988-2981G>T,\N,\N,25/47,Benign,\N,intron_variant,1.046,0.4898,1KG_SAS_AF,COL4A4
468055,2:227930297:G>A,NM_000092.4:c.1988-2983C>T,\N,\N,25/47,Benign,\N,intron_variant,0.599,0.0061,1KG_SAS_AF,COL4A4
468056,2:227930323:C>A,NM_000092.4:c.1988-3009G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.239,0.0015,1KG_AFR_AF,COL4A4
468057,2:227930334:G>C,NM_000092.4:c.1988-3020C>G,\N,\N,25/47,Benign,\N,intron_variant,0.137,0.0129,1KG_AFR_AF,COL4A4
468058,2:227930349:G>T,NM_000092.4:c.1988-3035C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.386,0.001,1KG_SAS_AF,COL4A4
468059,2:227930354:C>G,NM_000092.4:c.1988-3040G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.461,0.0038,1KG_AFR_AF,COL4A4
468060,2:227930355:A>G,NM_000092.4:c.1988-3041T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.956,0.0038,1KG_AFR_AF,COL4A4
468061,2:227930356:G>T,NM_000092.4:c.1988-3042C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.312,0.001,1KG_SAS_AF,COL4A4
468062,2:227930416:A>T,NM_000092.4:c.1988-3102T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.431,\N,\N,COL4A4
468063,2:227930419:T>C,NM_000092.4:c.1988-3105A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.397,\N,\N,COL4A4
468064,2:227930452:A>G,NM_000092.4:c.1988-3138T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.173,\N,\N,COL4A4
468065,2:227930465:A>G,NM_000092.4:c.1988-3151T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.262,0.0023,1KG_AFR_AF,COL4A4
468066,2:227930500:G>A,NM_000092.4:c.1988-3186C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.866,0.001,1KG_SAS_AF,COL4A4
468067,2:227930509:C>T,NM_000092.4:c.1988-3195G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.826,0.003,1KG_EUR_AF,COL4A4
468068,2:227930553:C>T,NM_000092.4:c.1988-3239G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.709,0.0014,1KG_AMR_AF,COL4A4
468069,2:227930587:C>T,NM_000092.4:c.1988-3273G>A,\N,\N,25/47,Benign,\N,intron_variant,1.233,0.0098,1KG_AFR_AF,COL4A4
468070,2:227930629:G>A,NM_000092.4:c.1988-3315C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.327,0.001,1KG_EAS_AF,COL4A4
468071,2:227930642:C>T,NM_000092.4:c.1988-3328G>A,\N,\N,25/47,Benign,\N,intron_variant,0.765,0.0091,1KG_AFR_AF,COL4A4
468072,2:227930649:C>T,NM_000092.4:c.1988-3335G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.962,0.001,1KG_SAS_AF,COL4A4
468073,2:227930650:G>A,NM_000092.4:c.1988-3336C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.896,0.001,1KG_SAS_AF,COL4A4
468074,2:227930671:G>C,NM_000092.4:c.1988-3357C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.114,0.0045,1KG_AFR_AF,COL4A4
468075,2:227930707:A>C,NM_000092.4:c.1988-3393T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.138,0.0031,1KG_SAS_AF,COL4A4
468076,2:227930723:A>G,NM_000092.4:c.1988-3409T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.446,\N,\N,COL4A4
468077,2:227930741:C>T,NM_000092.4:c.1988-3427G>A,\N,\N,25/47,Benign,\N,intron_variant,0.86,0.0053,1KG_AFR_AF,COL4A4
468078,2:227930760:C>G,NM_000092.4:c.1988-3446G>C,\N,\N,25/47,Benign,\N,intron_variant,0.657,0.0072,1KG_SAS_AF,COL4A4
468079,2:227930784:C>T,NM_000092.4:c.1988-3470G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.802,0.0015,1KG_AFR_AF,COL4A4
468080,2:227930806:G>A,NM_000092.4:c.1988-3492C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.21,\N,\N,COL4A4
468081,2:227930812:G>A,NM_000092.4:c.1988-3498C>T,\N,\N,25/47,Benign,\N,intron_variant,0.543,0.0068,1KG_AFR_AF,COL4A4
468082,2:227930814:T>C,NM_000092.4:c.1988-3500A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.818,0.001,1KG_SAS_AF,COL4A4
468083,2:227930829:C>G,NM_000092.4:c.1988-3515G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.849,0.002,1KG_EUR_AF,COL4A4
468084,2:227930843:G>A,NM_000092.4:c.1988-3529C>T,\N,\N,25/47,Benign,\N,intron_variant,0.781,0.0545,1KG_AFR_AF,COL4A4
468085,2:227930863:G>A,NM_000092.4:c.1988-3549C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.594,0.0008,1KG_AFR_AF,COL4A4
468086,2:227930897:A>G,NM_000092.4:c.1988-3583T>C,\N,\N,25/47,Benign,\N,intron_variant,0.303,0.0257,1KG_AFR_AF,COL4A4
468087,2:227931026:G>A,NM_000092.4:c.1988-3712C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.871,0.001,1KG_SAS_AF,COL4A4
468088,2:227931046:G>A,NM_000092.4:c.1988-3732C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.123,0.001,1KG_EAS_AF,COL4A4
468089,2:227931056:C>T,NM_000092.4:c.1988-3742G>A,\N,\N,25/47,Benign,\N,intron_variant,1.106,0.0688,1KG_AFR_AF,COL4A4
468090,2:227931057:A>G,NM_000092.4:c.1988-3743T>C,\N,\N,25/47,Benign,\N,intron_variant,0.612,0.0688,1KG_AFR_AF,COL4A4
468091,2:227931073:T>C,NM_000092.4:c.1988-3759A>G,\N,\N,25/47,Benign,\N,intron_variant,0.687,0.006,1KG_EUR_AF,COL4A4
468092,2:227931082:C>T,NM_000092.4:c.1988-3768G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.661,0.0045,1KG_AFR_AF,COL4A4
468093,2:227931087:C>A,NM_000092.4:c.1988-3773G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.216,0.001,1KG_EAS_AF,COL4A4
468094,2:227931115:C>G,NM_000092.4:c.1988-3801G>C,\N,\N,25/47,Benign,\N,intron_variant,0.53,0.0076,1KG_AFR_AF,COL4A4
468095,2:227931500:G>A,NM_000092.4:c.1988-4186C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.502,\N,\N,COL4A4
468096,2:227931574:A>C,NM_000092.4:c.1988-4260T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.281,0.001,1KG_EUR_AF,COL4A4
468097,2:227931603:G>C,NM_000092.4:c.1988-4289C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.112,\N,\N,COL4A4
468098,2:227931605:A>G,NM_000092.4:c.1988-4291T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.975,0.001,1KG_EAS_AF,COL4A4
468099,2:227931681:C>G,NM_000092.4:c.1988-4367G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.612,\N,\N,COL4A4
468100,2:227931725:A>G,NM_000092.4:c.1988-4411T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.47,\N,\N,COL4A4
468101,2:227931774:A>G,NM_000092.4:c.1988-4460T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.806,\N,\N,COL4A4
468102,2:227931825:A>C,NM_000092.4:c.1988-4511T>G,\N,\N,25/47,Benign,\N,intron_variant,0.13,0.0053,1KG_AFR_AF,COL4A4
468103,2:227931830:C>G,NM_000092.4:c.1988-4516G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.573,\N,\N,COL4A4
468104,2:227931838:G>T,NM_000092.4:c.1988-4524C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.208,\N,\N,COL4A4
468105,2:227931885:A>G,NM_000092.4:c.1988-4571T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.978,0.0014,1KG_AMR_AF,COL4A4
468106,2:227931888:C>T,NM_000092.4:c.1988-4574G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.826,0.0015,1KG_AFR_AF,COL4A4
468107,2:227931957:G>A,NM_000092.4:c.1988-4643C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.622,\N,\N,COL4A4
468108,2:227931968:C>A,NM_000092.4:c.1988-4654G>T,\N,\N,25/47,Benign,\N,intron_variant,0.917,0.0873,1KG_EAS_AF,COL4A4
468109,2:227931975:T>A,NM_000092.4:c.1988-4661A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.747,\N,\N,COL4A4
468110,2:227932017:A>T,NM_000092.4:c.1988-4703T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.229,\N,\N,COL4A4
468111,2:227932025:G>A,NM_000092.4:c.1988-4711C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.559,0.0008,1KG_AFR_AF,COL4A4
468112,2:227932044:G>C,NM_000092.4:c.1988-4730C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.111,\N,\N,COL4A4
468113,2:227932049:A>C,NM_000092.4:c.1988-4735T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.41,\N,\N,COL4A4
468114,2:227932078:C>T,NM_000092.4:c.1988-4764G>A,\N,\N,25/47,Benign,\N,intron_variant,1.111,0.0204,1KG_AFR_AF,COL4A4
468115,2:227932079:A>G,NM_000092.4:c.1988-4765T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.176,\N,\N,COL4A4
468116,2:227932087:T>C,NM_000092.4:c.1988-4773A>G,\N,\N,25/47,Benign,\N,intron_variant,0.837,0.1915,1KG_EAS_AF,COL4A4
468117,2:227932134:T>C,NM_000092.4:c.1988-4820A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.268,0.0015,1KG_AFR_AF,COL4A4
468118,2:227932154:C>T,NM_000092.4:c.1988-4840G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.86,\N,\N,COL4A4
468119,2:227932177:T>A,NM_000092.4:c.1988-4863A>T,\N,\N,25/47,Benign,\N,intron_variant,2.127,0.0098,1KG_AFR_AF,COL4A4
468120,2:227932210:G>C,NM_000092.4:c.1988-4896C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.078,0.002,1KG_EAS_AF,COL4A4
468121,2:227932213:C>T,NM_000092.4:c.1988-4899G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.905,0.0038,1KG_AFR_AF,COL4A4
468122,2:227932224:A>G,NM_000092.4:c.1988-4910T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.921,\N,\N,COL4A4
468123,2:227932241:C>T,NM_000092.4:c.1988-4927G>A,\N,\N,25/47,Benign,\N,intron_variant,1.01,0.006,1KG_EUR_AF,COL4A4
468124,2:227932319:G>A,NM_000092.4:c.1988-5005C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.919,0.0008,1KG_AFR_AF,COL4A4
468125,2:227932347:G>A,NM_000092.4:c.1988-5033C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.588,0.0008,1KG_AFR_AF,COL4A4
468126,2:227932361:G>A,NM_000092.4:c.1988-5047C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.767,\N,\N,COL4A4
468127,2:227932388:G>T,NM_000092.4:c.1988-5074C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.187,0.0043,1KG_AMR_AF,COL4A4
468128,2:227932417:G>A,NM_000092.4:c.1988-5103C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.975,0.001,1KG_SAS_AF,COL4A4
468129,2:227932453:T>C,NM_000092.4:c.1988-5139A>G,\N,\N,25/47,Benign,\N,intron_variant,0.524,0.3533,1KG_AFR_AF,COL4A4
468130,2:227932463:T>C,NM_000092.4:c.1988-5149A>G,\N,\N,25/47,Benign,\N,intron_variant,0.441,0.005,1KG_EUR_AF,COL4A4
468131,2:227932468:T>A,NM_000092.4:c.1988-5154A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.271,0.0038,1KG_AFR_AF,COL4A4
468132,2:227932471:A>C,NM_000092.4:c.1988-5157T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.405,\N,\N,COL4A4
468133,2:227932595:G>C,NM_000092.4:c.1988-5281C>G,\N,\N,25/47,Benign,\N,intron_variant,0.102,0.0121,1KG_AFR_AF,COL4A4
468134,2:227932598:A>G,NM_000092.4:c.1988-5284T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.47,\N,\N,COL4A4
468135,2:227932682:G>A,NM_000092.4:c.1988-5368C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.522,\N,\N,COL4A4
468136,2:227932703:A>G,NM_000092.4:c.1988-5389T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.374,\N,\N,COL4A4
468137,2:227932727:T>C,NM_000092.4:c.1988-5413A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.549,\N,\N,COL4A4
468138,2:227932729:C>T,NM_000092.4:c.1988-5415G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.784,\N,\N,COL4A4
468139,2:227932822:T>C,NM_000092.4:c.1988-5508A>G,\N,\N,25/47,Benign,\N,intron_variant,1.056,0.1915,1KG_EAS_AF,COL4A4
468140,2:227932853:C>G,NM_000092.4:c.1988-5539G>C,\N,\N,25/47,Benign,\N,intron_variant,0.332,0.5045,1KG_AFR_AF,COL4A4
468141,2:227932865:T>C,NM_000092.4:c.1988-5551A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.549,\N,\N,COL4A4
468142,2:227932919:A>C,NM_000092.4:c.1988-5605T>G,\N,\N,25/47,Benign,\N,intron_variant,0.245,0.0703,1KG_AFR_AF,COL4A4
468143,2:227932920:T>G,NM_000092.4:c.1988-5606A>C,\N,\N,25/47,Benign,\N,intron_variant,1.251,0.3742,1KG_SAS_AF,COL4A4
468144,2:227933019:G>A,NM_000092.4:c.1988-5705C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.578,\N,\N,COL4A4
468145,2:227933103:A>C,NM_000092.4:c.1988-5789T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.309,0.0038,1KG_AFR_AF,COL4A4
468146,2:227933183:C>CT,NM_000092.4:c.1988-5870_1988-5869insA,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468147,2:227933201:C>T,NM_000092.4:c.1988-5887G>A,\N,\N,25/47,Benign,\N,intron_variant,0.686,0.0308,1KG_EUR_AF,COL4A4
468148,2:227933255:C>T,NM_000092.4:c.1988-5941G>A,\N,\N,25/47,Benign,\N,intron_variant,1.265,0.3763,1KG_SAS_AF,COL4A4
468149,2:227933284:C>T,NM_000092.4:c.1988-5970G>A,\N,\N,25/47,Benign,\N,intron_variant,0.715,0.0567,1KG_AFR_AF,COL4A4
468150,2:227933296:T>C,NM_000092.4:c.1988-5982A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.523,0.0031,1KG_SAS_AF,COL4A4
468151,2:227933402:T>C,NM_000092.4:c.1988-6088A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.747,0.001,1KG_SAS_AF,COL4A4
468152,2:227933413:G>C,NM_000092.4:c.1988-6099C>G,\N,\N,25/47,Benign,\N,intron_variant,0.142,0.0257,1KG_AFR_AF,COL4A4
468153,2:227933431:T>C,NM_000092.4:c.1988-6117A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.597,\N,\N,COL4A4
468154,2:227933535:C>T,NM_000092.4:c.1988-6221G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.166,\N,\N,COL4A4
468155,2:227933578:G>C,NM_000092.4:c.1988-6264C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.097,\N,\N,COL4A4
468156,2:227933688:T>C,NM_000092.4:c.1988-6374A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.608,\N,\N,COL4A4
468157,2:227933741:G>C,NM_000092.4:c.1988-6427C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.109,\N,\N,COL4A4
468158,2:227933838:T>C,NM_000092.4:c.1988-6524A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.628,\N,\N,COL4A4
468159,2:227933845:A>G,NM_000092.4:c.1988-6531T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.356,\N,\N,COL4A4
468160,2:227933856:C>A,NM_000092.4:c.1988-6542G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.324,\N,\N,COL4A4
468161,2:227933933:A>G,NM_000092.4:c.1988-6619T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.401,\N,\N,COL4A4
468162,2:227933988:C>T,NM_000092.4:c.1988-6674G>A,\N,\N,25/47,Benign,\N,intron_variant,0.813,0.2973,1KG_AFR_AF,COL4A4
468163,2:227934044:A>T,NM_000092.4:c.1988-6730T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.904,0.001,1KG_SAS_AF,COL4A4
468164,2:227934081:C>A,NM_000092.4:c.1988-6767G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.726,\N,\N,COL4A4
468165,2:227934115:C>T,NM_000092.4:c.1988-6801G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.918,0.004,1KG_EUR_AF,COL4A4
468166,2:227934154:C>T,NM_000092.4:c.1988-6840G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.918,\N,\N,COL4A4
468167,2:227934155:G>A,NM_000092.4:c.1988-6841C>T,\N,\N,25/47,Benign,\N,intron_variant,0.622,0.1649,1KG_AFR_AF,COL4A4
468168,2:227934184:A>G,NM_000092.4:c.1988-6870T>C,\N,\N,25/47,Benign,\N,intron_variant,1.068,0.005,1KG_EUR_AF,COL4A4
468169,2:227934238:T>C,NM_000092.4:c.1988-6924A>G,\N,\N,25/47,Benign,\N,intron_variant,0.661,0.0169,1KG_EAS_AF,COL4A4
468170,2:227934276:C>T,NM_000092.4:c.1988-6962G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.646,0.0043,1KG_AMR_AF,COL4A4
468171,2:227934346:A>G,NM_000092.4:c.1988-7032T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.96,0.0038,1KG_AFR_AF,COL4A4
468172,2:227934371:T>A,NM_000092.4:c.1988-7057A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.203,\N,\N,COL4A4
468173,2:227934383:C>T,NM_000092.4:c.1988-7069G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.594,\N,\N,COL4A4
468174,2:227934403:T>C,NM_000092.4:c.1988-7089A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.493,0.002,1KG_EAS_AF,COL4A4
468175,2:227934412:T>C,NM_000092.4:c.1988-7098A>G,\N,\N,25/47,Benign,\N,intron_variant,0.593,0.0257,1KG_AFR_AF,COL4A4
468176,2:227934421:T>C,NM_000092.4:c.1988-7107A>G,\N,\N,25/47,Benign,\N,intron_variant,0.619,0.0151,1KG_AFR_AF,COL4A4
468177,2:227934440:C>T,NM_000092.4:c.1988-7126G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.801,0.0015,1KG_AFR_AF,COL4A4
468178,2:227934474:TA>T,NM_000092.4:c.1988-7161del,\N,\N,25/47,Benign,\N,intron_variant,5.519,0.0076,1KG_AFR_AF,COL4A4
468179,2:227934502:T>A,NM_000092.4:c.1988-7188A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.597,\N,\N,COL4A4
468180,2:227934516:T>C,NM_000092.4:c.1988-7202A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.478,\N,\N,COL4A4
468181,2:227934561:C>T,NM_000092.4:c.1988-7247G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.968,\N,\N,COL4A4
468182,2:227934570:A>C,NM_000092.4:c.1988-7256T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.227,\N,\N,COL4A4
468183,2:227934592:A>T,NM_000092.4:c.1988-7278T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.332,0.0008,1KG_AFR_AF,COL4A4
468184,2:227934693:A>T,NM_000092.4:c.1988-7379T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.554,\N,\N,COL4A4
468185,2:227934725:A>C,NM_000092.4:c.1988-7411T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.34,\N,\N,COL4A4
468186,2:227934782:A>G,NM_000092.4:c.1988-7468T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.93,0.001,1KG_EUR_AF,COL4A4
468187,2:227934829:A>G,NM_000092.4:c.1988-7515T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.726,0.004,1KG_EAS_AF,COL4A4
468188,2:227934841:C>T,NM_000092.4:c.1988-7527G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.028,\N,\N,COL4A4
468189,2:227934860:A>C,NM_000092.4:c.1988-7546T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.076,0.003,1KG_AFR_AF,COL4A4
468190,2:227934970:C>T,NM_000092.4:c.1987+7640G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.633,0.001,1KG_SAS_AF,COL4A4
468191,2:227934979:T>G,NM_000092.4:c.1987+7631A>C,\N,\N,25/47,Benign,\N,intron_variant,1.275,0.2905,1KG_AFR_AF,COL4A4
468192,2:227935028:G>A,NM_000092.4:c.1987+7582C>T,\N,\N,25/47,Benign,\N,intron_variant,0.543,0.0129,1KG_AFR_AF,COL4A4
468193,2:227935075:C>G,NM_000092.4:c.1987+7535G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.492,\N,\N,COL4A4
468194,2:227935118:T>A,NM_000092.4:c.1987+7492A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.01,\N,\N,COL4A4
468195,2:227935145:T>C,NM_000092.4:c.1987+7465A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.384,\N,\N,COL4A4
468196,2:227935148:C>T,NM_000092.4:c.1987+7462G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.767,\N,\N,COL4A4
468197,2:227935149:G>A,NM_000092.4:c.1987+7461C>T,\N,\N,25/47,Benign,\N,intron_variant,0.523,0.0257,1KG_AFR_AF,COL4A4
468198,2:227935184:CCAAATGT>C,NM_000092.4:c.1987+7419_1987+7425del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468199,2:227935190:G>C,NM_000092.4:c.1987+7420C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.073,\N,\N,COL4A4
468200,2:227935225:C>G,NM_000092.4:c.1987+7385G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.509,0.0014,1KG_AMR_AF,COL4A4
468201,2:227935238:T>C,NM_000092.4:c.1987+7372A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.516,0.003,1KG_EAS_AF,COL4A4
468202,2:227935274:T>C,NM_000092.4:c.1987+7336A>G,\N,\N,25/47,Benign,\N,intron_variant,0.484,0.0188,1KG_EAS_AF,COL4A4
468203,2:227935286:G>A,NM_000092.4:c.1987+7324C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.24,0.001,1KG_EAS_AF,COL4A4
468204,2:227935300:C>T,NM_000092.4:c.1987+7310G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.695,\N,\N,COL4A4
468205,2:227935326:A>G,NM_000092.4:c.1987+7284T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.023,\N,\N,COL4A4
468206,2:227935329:G>A,NM_000092.4:c.1987+7281C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.519,0.002,1KG_SAS_AF,COL4A4
468207,2:227935338:A>G,NM_000092.4:c.1987+7272T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.051,\N,\N,COL4A4
468208,2:227935352:A>G,NM_000092.4:c.1987+7258T>C,\N,\N,25/47,Benign,\N,intron_variant,1.333,0.3699,1KG_AFR_AF,COL4A4
468209,2:227935377:T>C,NM_000092.4:c.1987+7233A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.565,\N,\N,COL4A4
468210,2:227935396:A>G,NM_000092.4:c.1987+7214T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.519,\N,\N,COL4A4
468211,2:227935408:G>A,NM_000092.4:c.1987+7202C>T,\N,\N,25/47,Benign,\N,intron_variant,1.096,0.0567,1KG_AFR_AF,COL4A4
468212,2:227935428:A>C,NM_000092.4:c.1987+7182T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.287,\N,\N,COL4A4
468213,2:227935430:T>C,NM_000092.4:c.1987+7180A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.636,\N,\N,COL4A4
468214,2:227935441:G>T,NM_000092.4:c.1987+7169C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.327,\N,\N,COL4A4
468215,2:227935455:G>A,NM_000092.4:c.1987+7155C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.939,\N,\N,COL4A4
468216,2:227935455:GGGGGGA>G,NM_000092.4:c.1987+7149_1987+7154del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468217,2:227935490:T>A,NM_000092.4:c.1987+7120A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.387,\N,\N,COL4A4
468218,2:227935504:G>A,NM_000092.4:c.1987+7106C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.503,\N,\N,COL4A4
468219,2:227935513:G>A,NM_000092.4:c.1987+7097C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.72,0.0038,1KG_AFR_AF,COL4A4
468220,2:227935536:A>G,NM_000092.4:c.1987+7074T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.837,0.0008,1KG_AFR_AF,COL4A4
468221,2:227935547:T>A,NM_000092.4:c.1987+7063A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.822,0.0008,1KG_AFR_AF,COL4A4
468222,2:227935579:C>T,NM_000092.4:c.1987+7031G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.894,0.001,1KG_SAS_AF,COL4A4
468223,2:227935591:T>TAATA,NM_000092.4:c.1987+7015_1987+7018dup,\N,\N,25/47,Benign,\N,intron_variant,0.155,0.3918,1KG_AFR_AF,COL4A4
468224,2:227935591:T>TAATAAATA,NM_000092.4:c.1987+7011_1987+7018dup,\N,\N,25/47,Benign,\N,intron_variant,0.108,0.1577,1KG_EAS_AF,COL4A4
468225,2:227935684:T>C,NM_000092.4:c.1987+6926A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.822,\N,\N,COL4A4
468226,2:227935691:C>T,NM_000092.4:c.1987+6919G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.688,0.0008,1KG_AFR_AF,COL4A4
468227,2:227935767:T>C,NM_000092.4:c.1987+6843A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,5.882,\N,\N,COL4A4
468228,2:227935811:C>T,NM_000092.4:c.1987+6799G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.208,\N,\N,COL4A4
468229,2:227935820:G>A,NM_000092.4:c.1987+6790C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.194,0.0014,1KG_AMR_AF,COL4A4
468230,2:227935837:A>C,NM_000092.4:c.1987+6773T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.024,0.001,1KG_SAS_AF,COL4A4
468231,2:227935874:G>C,NM_000092.4:c.1987+6736C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,4.463,0.001,1KG_EAS_AF,COL4A4
468232,2:227935895:A>G,NM_000092.4:c.1987+6715T>C,\N,\N,25/47,Benign,\N,intron_variant,0.074,0.0265,1KG_AFR_AF,COL4A4
468233,2:227935910:A>G,NM_000092.4:c.1987+6700T>C,\N,\N,25/47,Benign,\N,intron_variant,1.808,0.3793,1KG_SAS_AF,COL4A4
468234,2:227935984:C>T,NM_000092.4:c.1987+6626G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.451,0.0008,1KG_AFR_AF,COL4A4
468235,2:227935995:A>T,NM_000092.4:c.1987+6615T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.846,0.0008,1KG_AFR_AF,COL4A4
468236,2:227936052:A>C,NM_000092.4:c.1987+6558T>G,\N,\N,25/47,Benign,\N,intron_variant,4.17,0.0136,1KG_AFR_AF,COL4A4
468237,2:227936087:C>G,NM_000092.4:c.1987+6523G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.079,0.0008,1KG_AFR_AF,COL4A4
468238,2:227936089:A>G,NM_000092.4:c.1987+6521T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.128,\N,\N,COL4A4
468239,2:227936112:A>G,NM_000092.4:c.1987+6498T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.538,0.001,1KG_SAS_AF,COL4A4
468240,2:227936155:A>T,NM_000092.4:c.1987+6455T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,12.09,0.001,1KG_EAS_AF,COL4A4
468241,2:227936157:C>A,NM_000092.4:c.1987+6453G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,13.55,0.001,1KG_EAS_AF,COL4A4
468242,2:227936169:G>A,NM_000092.4:c.1987+6441C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,12.83,0.0015,1KG_AFR_AF,COL4A4
468243,2:227936199:A>T,NM_000092.4:c.1987+6411T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,12.41,\N,\N,COL4A4
468244,2:227936201:A>G,NM_000092.4:c.1987+6409T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,12.5,0.001,1KG_EUR_AF,COL4A4
468245,2:227936209:A>C,NM_000092.4:c.1987+6401T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,11.32,0.001,1KG_EUR_AF,COL4A4
468246,2:227936218:C>T,NM_000092.4:c.1987+6392G>A,\N,\N,25/47,Benign,\N,intron_variant,10.03,0.0266,1KG_SAS_AF,COL4A4
468247,2:227936236:G>C,NM_000092.4:c.1987+6374C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,6.515,\N,\N,COL4A4
468248,2:227936261:ATTAAC>A,NM_000092.4:c.1987+6344_1987+6348del,\N,\N,25/47,Benign,\N,intron_variant,5.443,0.1935,1KG_EAS_AF,COL4A4
468249,2:227936304:C>G,NM_000092.4:c.1987+6306G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.851,\N,\N,COL4A4
468250,2:227936380:A>T,NM_000092.4:c.1987+6230T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.432,\N,\N,COL4A4
468251,2:227936392:A>T,NM_000092.4:c.1987+6218T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.581,\N,\N,COL4A4
468252,2:227936399:A>C,NM_000092.4:c.1987+6211T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.798,0.001,1KG_SAS_AF,COL4A4
468253,2:227936403:G>C,NM_000092.4:c.1987+6207C>G,\N,\N,25/47,Benign,\N,intron_variant,0.029,0.0091,1KG_AFR_AF,COL4A4
468254,2:227936435:A>G,NM_000092.4:c.1987+6175T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.397,\N,\N,COL4A4
468255,2:227936466:C>G,NM_000092.4:c.1987+6144G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.271,\N,\N,COL4A4
468256,2:227936479:A>G,NM_000092.4:c.1987+6131T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.858,\N,\N,COL4A4
468257,2:227936528:T>C,NM_000092.4:c.1987+6082A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,3.351,\N,\N,COL4A4
468258,2:227936531:A>G,NM_000092.4:c.1987+6079T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.14,0.002,1KG_EAS_AF,COL4A4
468259,2:227936597:C>A,NM_000092.4:c.1987+6013G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.504,\N,\N,COL4A4
468260,2:227936624:A>AGGAAAGCTTATAGTGCTAAGG,NM_000092.4:c.1987+5985_1987+5986insCCTTAGCACTATAAGCTTTCC,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468261,2:227936626:G>A,NM_000092.4:c.1987+5984C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.327,\N,\N,COL4A4
468262,2:227936673:C>T,NM_000092.4:c.1987+5937G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.503,\N,\N,COL4A4
468263,2:227936770:C>T,NM_000092.4:c.1987+5840G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.256,\N,\N,COL4A4
468264,2:227936780:GCAAAC>G,NM_000092.4:c.1987+5825_1987+5829del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468265,2:227936795:A>G,NM_000092.4:c.1987+5815T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.081,\N,\N,COL4A4
468266,2:227936800:AAATT>A,NM_000092.4:c.1987+5806_1987+5809del,\N,\N,25/47,Unknown significance,\N,intron_variant,0.41,0.002,1KG_EUR_AF,COL4A4
468267,2:227936811:T>C,NM_000092.4:c.1987+5799A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.092,0.002,1KG_SAS_AF,COL4A4
468268,2:227936829:G>A,NM_000092.4:c.1987+5781C>T,\N,\N,25/47,Benign,\N,intron_variant,2.447,0.056,1KG_AFR_AF,COL4A4
468269,2:227936830:C>G,NM_000092.4:c.1987+5780G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.283,\N,\N,COL4A4
468270,2:227936859:A>G,NM_000092.4:c.1987+5751T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.661,0.0008,1KG_AFR_AF,COL4A4
468271,2:227936864:C>A,NM_000092.4:c.1987+5746G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.657,\N,\N,COL4A4
468272,2:227936904:A>C,NM_000092.4:c.1987+5706T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,8.879,\N,\N,COL4A4
468273,2:227936924:G>A,NM_000092.4:c.1987+5686C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,8.859,\N,\N,COL4A4
468274,2:227936968:C>T,NM_000092.4:c.1987+5642G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,10.11,0.0008,1KG_AFR_AF,COL4A4
468275,2:227937042:C>A,NM_000092.4:c.1987+5568G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.725,0.004,1KG_EUR_AF,COL4A4
468276,2:227937044:T>A,NM_000092.4:c.1987+5566A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.394,\N,\N,COL4A4
468277,2:227937062:T>A,NM_000092.4:c.1987+5548A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.405,\N,\N,COL4A4
468278,2:227937064:T>C,NM_000092.4:c.1987+5546A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,5.639,\N,\N,COL4A4
468279,2:227937096:T>C,NM_000092.4:c.1987+5514A>G,\N,\N,25/47,Benign,\N,intron_variant,2.144,0.0051,1KG_SAS_AF,COL4A4
468280,2:227937101:A>T,NM_000092.4:c.1987+5509T>A,\N,\N,25/47,Benign,\N,intron_variant,2.817,0.0257,1KG_AFR_AF,COL4A4
468281,2:227937102:G>T,NM_000092.4:c.1987+5508C>A,\N,\N,25/47,Benign,\N,intron_variant,0.87,0.0257,1KG_AFR_AF,COL4A4
468282,2:227937111:T>C,NM_000092.4:c.1987+5499A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.256,0.0008,1KG_AFR_AF,COL4A4
468283,2:227937172:A>G,NM_000092.4:c.1987+5438T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.122,0.003,1KG_AFR_AF,COL4A4
468284,2:227937188:C>T,NM_000092.4:c.1987+5422G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.15,\N,\N,COL4A4
468285,2:227937189:T>C,NM_000092.4:c.1987+5421A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.337,\N,\N,COL4A4
468286,2:227937212:T>A,NM_000092.4:c.1987+5398A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,9.113,0.003,1KG_AFR_AF,COL4A4
468287,2:227937243:A>G,NM_000092.4:c.1987+5367T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.293,0.001,1KG_EAS_AF,COL4A4
468288,2:227937292:C>T,NM_000092.4:c.1987+5318G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,5.94,\N,\N,COL4A4
468289,2:227937308:T>TAC,NM_000092.4:c.1987+5300_1987+5301dup,\N,\N,25/47,Unknown significance,\N,intron_variant,1.609,\N,\N,COL4A4
468290,2:227937308:TAC>T,NM_000092.4:c.1987+5300_1987+5301del,\N,\N,25/47,Unknown significance,\N,intron_variant,6.776,\N,\N,COL4A4
468291,2:227937328:C>T,NM_000092.4:c.1987+5282G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.234,0.001,1KG_SAS_AF,COL4A4
468292,2:227937330:A>C,NM_000092.4:c.1987+5280T>G,\N,\N,25/47,Benign,\N,intron_variant,2.596,0.1051,1KG_AFR_AF,COL4A4
468293,2:227937425:A>G,NM_000092.4:c.1987+5185T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.199,\N,\N,COL4A4
468294,2:227937462:T>C,NM_000092.4:c.1987+5148A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.881,0.0014,1KG_AMR_AF,COL4A4
468295,2:227937468:C>T,NM_000092.4:c.1987+5142G>A,\N,\N,25/47,Benign,\N,intron_variant,2.504,0.0288,1KG_EUR_AF,COL4A4
468296,2:227937487:C>T,NM_000092.4:c.1987+5123G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.787,0.0008,1KG_AFR_AF,COL4A4
468297,2:227937547:C>T,NM_000092.4:c.1987+5063G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.11,0.001,1KG_EAS_AF,COL4A4
468298,2:227937559:G>A,NM_000092.4:c.1987+5051C>T,\N,\N,25/47,Benign,\N,intron_variant,1.184,0.008,1KG_EUR_AF,COL4A4
468299,2:227937561:A>T,NM_000092.4:c.1987+5049T>A,\N,\N,25/47,Benign,\N,intron_variant,0.503,0.0083,1KG_AFR_AF,COL4A4
468300,2:227937570:T>C,NM_000092.4:c.1987+5040A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.113,\N,\N,COL4A4
468301,2:227937573:C>CA,NM_000092.4:c.1987+5036dup,\N,\N,25/47,Benign,\N,intron_variant,1.222,0.0098,1KG_AFR_AF,COL4A4
468302,2:227937611:C>T,NM_000092.4:c.1987+4999G>A,\N,\N,25/47,Benign,\N,intron_variant,2.458,0.3763,1KG_SAS_AF,COL4A4
468303,2:227937613:C>G,NM_000092.4:c.1987+4997G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.897,\N,\N,COL4A4
468304,2:227937669:A>G,NM_000092.4:c.1987+4941T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.531,0.001,1KG_EAS_AF,COL4A4
468305,2:227937716:C>T,NM_000092.4:c.1987+4894G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.643,\N,\N,COL4A4
468306,2:227937717:A>G,NM_000092.4:c.1987+4893T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.991,\N,\N,COL4A4
468307,2:227937718:C>T,NM_000092.4:c.1987+4892G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.567,\N,\N,COL4A4
468308,2:227937730:C>G,NM_000092.4:c.1987+4880G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.902,0.001,1KG_SAS_AF,COL4A4
468309,2:227937739:A>C,NM_000092.4:c.1987+4871T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.634,\N,\N,COL4A4
468310,2:227937747:G>A,NM_000092.4:c.1987+4863C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.975,0.001,1KG_EUR_AF,COL4A4
468311,2:227937771:G>T,NM_000092.4:c.1987+4839C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.524,0.0014,1KG_AMR_AF,COL4A4
468312,2:227937784:A>T,NM_000092.4:c.1987+4826T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.079,0.0041,1KG_SAS_AF,COL4A4
468313,2:227937786:A>G,NM_000092.4:c.1987+4824T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.061,\N,\N,COL4A4
468314,2:227937794:T>C,NM_000092.4:c.1987+4816A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,5.898,0.001,1KG_EAS_AF,COL4A4
468315,2:227937803:G>C,NM_000092.4:c.1987+4807C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.382,\N,\N,COL4A4
468316,2:227937808:G>C,NM_000092.4:c.1987+4802C>G,\N,\N,25/47,Benign,\N,intron_variant,0.089,0.0144,1KG_AFR_AF,COL4A4
468317,2:227937816:C>T,NM_000092.4:c.1987+4794G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.029,\N,\N,COL4A4
468318,2:227937819:A>C,NM_000092.4:c.1987+4791T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.966,\N,\N,COL4A4
468319,2:227937820:CT>C,NM_000092.4:c.1987+4789del,\N,\N,25/47,Benign,\N,intron_variant,2.753,0.0582,1KG_AFR_AF,COL4A4
468320,2:227937835:G>A,NM_000092.4:c.1987+4775C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.106,0.001,1KG_EUR_AF,COL4A4
468321,2:227937843:G>C,NM_000092.4:c.1987+4767C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.376,\N,\N,COL4A4
468322,2:227937857:A>AT,NM_000092.4:c.1987+4752_1987+4753insA,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468323,2:227937868:G>A,NM_000092.4:c.1987+4742C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.139,0.001,1KG_EAS_AF,COL4A4
468324,2:227937884:T>C,NM_000092.4:c.1987+4726A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,6.889,\N,\N,COL4A4
468325,2:227937895:A>G,NM_000092.4:c.1987+4715T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.94,\N,\N,COL4A4
468326,2:227937899:A>G,NM_000092.4:c.1987+4711T>C,\N,\N,25/47,Benign,\N,intron_variant,1.564,0.0083,1KG_AFR_AF,COL4A4
468327,2:227937901:A>C,NM_000092.4:c.1987+4709T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.594,0.003,1KG_EUR_AF,COL4A4
468328,2:227937937:C>G,NM_000092.4:c.1987+4673G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.597,0.0014,1KG_AMR_AF,COL4A4
468329,2:227937949:G>A,NM_000092.4:c.1987+4661C>T,\N,\N,25/47,Benign,\N,intron_variant,2.528,0.007,1KG_EUR_AF,COL4A4
468330,2:227937981:G>GT,NM_000092.4:c.1987+4628_1987+4629insA,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468331,2:227937999:A>G,NM_000092.4:c.1987+4611T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.603,\N,\N,COL4A4
468332,2:227938013:CA>C,NM_000092.4:c.1987+4596del,\N,\N,25/47,Benign,\N,intron_variant,7.321,0.2905,1KG_AFR_AF,COL4A4
468333,2:227938068:A>C,NM_000092.4:c.1987+4542T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,10.82,\N,\N,COL4A4
468334,2:227938085:A>G,NM_000092.4:c.1987+4525T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,14.47,\N,\N,COL4A4
468335,2:227938091:A>C,NM_000092.4:c.1987+4519T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,13.61,0.003,1KG_AFR_AF,COL4A4
468336,2:227938159:T>C,NM_000092.4:c.1987+4451A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.991,\N,\N,COL4A4
468337,2:227938182:C>G,NM_000092.4:c.1987+4428G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.869,0.0023,1KG_AFR_AF,COL4A4
468338,2:227938188:A>G,NM_000092.4:c.1987+4422T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.772,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
468339,2:227938228:C>T,NM_000092.4:c.1987+4382G>A,\N,\N,25/47,Benign,\N,intron_variant,0.158,0.0257,1KG_AFR_AF,COL4A4
468340,2:227938230:C>T,NM_000092.4:c.1987+4380G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.533,0.0008,1KG_AFR_AF,COL4A4
468341,2:227938232:T>C,NM_000092.4:c.1987+4378A>G,\N,\N,25/47,Benign,\N,intron_variant,1.703,0.0076,1KG_AFR_AF,COL4A4
468342,2:227938238:T>C,NM_000092.4:c.1987+4372A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.114,\N,\N,COL4A4
468343,2:227938239:T>G,NM_000092.4:c.1987+4371A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.932,\N,\N,COL4A4
468344,2:227938250:G>GA,NM_000092.4:c.1987+4359dup,\N,\N,25/47,Benign,\N,intron_variant,0.478,0.0153,1KG_SAS_AF,COL4A4
468345,2:227938300:C>A,NM_000092.4:c.1987+4310G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,12.25,\N,\N,COL4A4
468346,2:227938313:A>G,NM_000092.4:c.1987+4297T>C,\N,\N,25/47,Benign,\N,intron_variant,12.98,0.0083,1KG_AFR_AF,COL4A4
468347,2:227938338:A>C,NM_000092.4:c.1987+4272T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,9.316,0.001,1KG_EAS_AF,COL4A4
468348,2:227938374:T>A,NM_000092.4:c.1987+4236A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.805,0.001,1KG_EAS_AF,COL4A4
468349,2:227938392:T>C,NM_000092.4:c.1987+4218A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.24,0.001,1KG_EAS_AF,COL4A4
468350,2:227938393:G>T,NM_000092.4:c.1987+4217C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.958,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
468351,2:227938394:G>C,NM_000092.4:c.1987+4216C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.415,0.001,1KG_SAS_AF,COL4A4
468352,2:227938411:G>C,NM_000092.4:c.1987+4199C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.277,0.001,1KG_EUR_AF,COL4A4
468353,2:227938419:C>G,NM_000092.4:c.1987+4191G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.058,0.001,1KG_EAS_AF,COL4A4
468354,2:227938421:C>G,NM_000092.4:c.1987+4189G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.099,\N,\N,COL4A4
468355,2:227938432:GCA>G,NM_000092.4:c.1987+4176_1987+4177del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468356,2:227938474:T>C,NM_000092.4:c.1987+4136A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.9,\N,\N,COL4A4
468357,2:227938475:G>T,NM_000092.4:c.1987+4135C>A,\N,\N,25/47,Benign,\N,intron_variant,0.707,0.0249,1KG_EUR_AF,COL4A4
468358,2:227938476:A>T,NM_000092.4:c.1987+4134T>A,\N,\N,25/47,Benign,\N,intron_variant,1.862,0.0249,1KG_EUR_AF,COL4A4
468359,2:227938506:T>C,NM_000092.4:c.1987+4104A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.599,0.0031,1KG_SAS_AF,COL4A4
468360,2:227938536:A>T,NM_000092.4:c.1987+4074T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.27,0.001,1KG_EUR_AF,COL4A4
468361,2:227938540:T>A,NM_000092.4:c.1987+4070A>T,\N,\N,25/47,Benign,\N,intron_variant,4.626,0.0089,1KG_EAS_AF,COL4A4
468362,2:227938558:A>G,NM_000092.4:c.1987+4052T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.104,\N,\N,COL4A4
468363,2:227938581:G>A,NM_000092.4:c.1987+4029C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.976,0.003,1KG_AFR_AF,COL4A4
468364,2:227938582:G>T,NM_000092.4:c.1987+4028C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.559,\N,\N,COL4A4
468365,2:227938624:T>G,NM_000092.4:c.1987+3986A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.742,\N,\N,COL4A4
468366,2:227938653:T>G,NM_000092.4:c.1987+3957A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.219,\N,\N,COL4A4
468367,2:227938654:A>G,NM_000092.4:c.1987+3956T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.449,\N,\N,COL4A4
468368,2:227938655:T>C,NM_000092.4:c.1987+3955A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.439,0.001,1KG_EAS_AF,COL4A4
468369,2:227938665:A>G,NM_000092.4:c.1987+3945T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.596,0.001,1KG_SAS_AF,COL4A4
468370,2:227938677:T>G,NM_000092.4:c.1987+3933A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.965,0.002,1KG_EAS_AF,COL4A4
468371,2:227938715:T>G,NM_000092.4:c.1987+3895A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.522,0.0008,1KG_AFR_AF,COL4A4
468372,2:227938743:A>G,NM_000092.4:c.1987+3867T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,7.139,0.001,1KG_SAS_AF,COL4A4
468373,2:227938763:A>G,NM_000092.4:c.1987+3847T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.877,0.002,1KG_EAS_AF,COL4A4
468374,2:227938764:T>C,NM_000092.4:c.1987+3846A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.838,0.0008,1KG_AFR_AF,COL4A4
468375,2:227938766:G>C,NM_000092.4:c.1987+3844C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.465,0.001,1KG_EUR_AF,COL4A4
468376,2:227938766:G>T,NM_000092.4:c.1987+3844C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.989,\N,\N,COL4A4
468377,2:227938769:C>T,NM_000092.4:c.1987+3841G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.984,0.0008,1KG_AFR_AF,COL4A4
468378,2:227938795:C>G,NM_000092.4:c.1987+3815G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.793,\N,\N,COL4A4
468379,2:227938798:C>CA,NM_000092.4:c.1987+3811dup,\N,\N,25/47,Unknown significance,\N,intron_variant,1.959,\N,\N,COL4A4
468380,2:227938859:C>T,NM_000092.4:c.1987+3751G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.168,0.0014,1KG_AMR_AF,COL4A4
468381,2:227938860:T>C,NM_000092.4:c.1987+3750A>G,\N,\N,25/47,Benign,\N,intron_variant,3.998,0.0083,1KG_AFR_AF,COL4A4
468382,2:227938868:C>T,NM_000092.4:c.1987+3742G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.695,0.0029,1KG_AMR_AF,COL4A4
468383,2:227938880:A>G,NM_000092.4:c.1987+3730T>C,\N,\N,25/47,Benign,\N,intron_variant,0.193,0.3139,1KG_AFR_AF,COL4A4
468384,2:227938910:A>G,NM_000092.4:c.1987+3700T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.463,0.004,1KG_EUR_AF,COL4A4
468385,2:227938919:G>GA,NM_000092.4:c.1987+3690dup,\N,\N,25/47,Benign,\N,intron_variant,2.447,0.0542,1KG_SAS_AF,COL4A4
468386,2:227938923:A>G,NM_000092.4:c.1987+3687T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.272,0.0008,1KG_AFR_AF,COL4A4
468387,2:227938964:T>G,NM_000092.4:c.1987+3646A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,6.205,\N,\N,COL4A4
468388,2:227938968:C>T,NM_000092.4:c.1987+3642G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.803,\N,\N,COL4A4
468389,2:227938980:TAAGATA>T,NM_000092.4:c.1987+3624_1987+3629del,\N,\N,25/47,Unknown significance,\N,intron_variant,5.279,\N,\N,COL4A4
468390,2:227939026:C>A,NM_000092.4:c.1987+3584G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.73,0.001,1KG_SAS_AF,COL4A4
468391,2:227939027:A>G,NM_000092.4:c.1987+3583T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.29,0.0015,1KG_AFR_AF,COL4A4
468392,2:227939030:A>G,NM_000092.4:c.1987+3580T>C,\N,\N,25/47,Benign,\N,intron_variant,1.429,0.0174,1KG_AFR_AF,COL4A4
468393,2:227939043:A>C,NM_000092.4:c.1987+3567T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.883,0.001,1KG_EUR_AF,COL4A4
468394,2:227939065:G>A,NM_000092.4:c.1987+3545C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.225,0.0008,1KG_AFR_AF,COL4A4
468395,2:227939090:T>A,NM_000092.4:c.1987+3520A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.434,\N,\N,COL4A4
468396,2:227939115:A>G,NM_000092.4:c.1987+3495T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.667,0.001,1KG_SAS_AF,COL4A4
468397,2:227939135:T>G,NM_000092.4:c.1987+3475A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,10.9,\N,\N,COL4A4
468398,2:227939145:G>C,NM_000092.4:c.1987+3465C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,8.556,0.0008,1KG_AFR_AF,COL4A4
468399,2:227939151:C>T,NM_000092.4:c.1987+3459G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,9.935,0.0014,1KG_AMR_AF,COL4A4
468400,2:227939182:T>C,NM_000092.4:c.1987+3428A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,7.226,\N,\N,COL4A4
468401,2:227939242:T>C,NM_000092.4:c.1987+3368A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,7.289,\N,\N,COL4A4
468402,2:227939245:G>A,NM_000092.4:c.1987+3365C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.495,\N,\N,COL4A4
468403,2:227939269:A>G,NM_000092.4:c.1987+3341T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,9.947,0.001,1KG_EAS_AF,COL4A4
468404,2:227939322:G>A,NM_000092.4:c.1987+3288C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.637,0.001,1KG_SAS_AF,COL4A4
468405,2:227939406:G>A,NM_000092.4:c.1987+3204C>T,\N,\N,25/47,Benign,\N,intron_variant,0.106,0.0242,1KG_AFR_AF,COL4A4
468406,2:227939420:T>C,NM_000092.4:c.1987+3190A>G,\N,\N,25/47,Benign,\N,intron_variant,0.853,0.0153,1KG_SAS_AF,COL4A4
468407,2:227939430:C>T,NM_000092.4:c.1987+3180G>A,\N,\N,25/47,Benign,\N,intron_variant,1.891,0.1271,1KG_AFR_AF,COL4A4
468408,2:227939457:G>A,NM_000092.4:c.1987+3153C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.602,0.001,1KG_SAS_AF,COL4A4
468409,2:227939535:T>C,NM_000092.4:c.1987+3075A>G,\N,\N,25/47,Benign,\N,intron_variant,2.607,0.0053,1KG_AFR_AF,COL4A4
468410,2:227939549:C>T,NM_000092.4:c.1987+3061G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.806,\N,\N,COL4A4
468411,2:227939550:G>A,NM_000092.4:c.1987+3060C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.588,0.0008,1KG_AFR_AF,COL4A4
468412,2:227939580:GCAT>G,NM_000092.4:c.1987+3027_1987+3029del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468413,2:227939608:G>A,NM_000092.4:c.1987+3002C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.98,0.0008,1KG_AFR_AF,COL4A4
468414,2:227939614:G>A,NM_000092.4:c.1987+2996C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.633,0.0008,1KG_AFR_AF,COL4A4
468415,2:227939619:G>A,NM_000092.4:c.1987+2991C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.141,0.001,1KG_EAS_AF,COL4A4
468416,2:227939631:C>G,NM_000092.4:c.1987+2979G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.638,0.002,1KG_SAS_AF,COL4A4
468417,2:227939642:C>T,NM_000092.4:c.1987+2968G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.901,0.001,1KG_SAS_AF,COL4A4
468418,2:227939707:G>T,NM_000092.4:c.1987+2903C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.134,\N,\N,COL4A4
468419,2:227939731:C>T,NM_000092.4:c.1987+2879G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.654,\N,\N,COL4A4
468420,2:227939753:C>G,NM_000092.4:c.1987+2857G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.967,\N,\N,COL4A4
468421,2:227939773:C>T,NM_000092.4:c.1987+2837G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.888,0.0008,1KG_AFR_AF,COL4A4
468422,2:227939801:C>G,NM_000092.4:c.1987+2809G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.644,0.001,1KG_EUR_AF,COL4A4
468423,2:227939803:G>A,NM_000092.4:c.1987+2807C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.332,0.0008,1KG_AFR_AF,COL4A4
468424,2:227939835:T>C,NM_000092.4:c.1987+2775A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.058,0.0008,1KG_AFR_AF,COL4A4
468425,2:227939841:A>T,NM_000092.4:c.1987+2769T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.524,0.0008,1KG_AFR_AF,COL4A4
468426,2:227939916:C>T,NM_000092.4:c.1987+2694G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.395,0.001,1KG_EUR_AF,COL4A4
468427,2:227939967:A>G,NM_000092.4:c.1987+2643T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.865,\N,\N,COL4A4
468428,2:227939976:T>C,NM_000092.4:c.1987+2634A>G,\N,\N,25/47,Benign,\N,intron_variant,1.434,0.0058,1KG_AMR_AF,COL4A4
468429,2:227939979:C>G,NM_000092.4:c.1987+2631G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.619,\N,\N,COL4A4
468430,2:227939983:C>T,NM_000092.4:c.1987+2627G>A,\N,\N,25/47,Benign,\N,intron_variant,0.343,0.0068,1KG_AFR_AF,COL4A4
468431,2:227940030:G>A,NM_000092.4:c.1987+2580C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.588,0.001,1KG_SAS_AF,COL4A4
468432,2:227940051:A>G,NM_000092.4:c.1987+2559T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.072,\N,\N,COL4A4
468433,2:227940052:T>C,NM_000092.4:c.1987+2558A>G,\N,\N,25/47,Benign,\N,intron_variant,1.144,0.0151,1KG_AFR_AF,COL4A4
468434,2:227940095:T>G,NM_000092.4:c.1987+2515A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.032,\N,\N,COL4A4
468435,2:227940096:G>A,NM_000092.4:c.1987+2514C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.464,\N,\N,COL4A4
468436,2:227940121:C>G,NM_000092.4:c.1987+2489G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.107,0.001,1KG_EUR_AF,COL4A4
468437,2:227940133:A>G,NM_000092.4:c.1987+2477T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.113,0.001,1KG_EAS_AF,COL4A4
468438,2:227940140:C>T,NM_000092.4:c.1987+2470G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.366,0.0014,1KG_AMR_AF,COL4A4
468439,2:227940193:T>C,NM_000092.4:c.1987+2417A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.646,\N,\N,COL4A4
468440,2:227940198:C>A,NM_000092.4:c.1987+2412G>T,\N,\N,25/47,Benign,\N,intron_variant,4.957,0.0072,1KG_SAS_AF,COL4A4
468441,2:227940214:A>G,NM_000092.4:c.1987+2396T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.324,0.0008,1KG_AFR_AF,COL4A4
468442,2:227940252:T>G,NM_000092.4:c.1987+2358A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.16,\N,\N,COL4A4
468443,2:227940284:A>G,NM_000092.4:c.1987+2326T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,2.673,\N,\N,COL4A4
468444,2:227940295:A>C,NM_000092.4:c.1987+2315T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.168,0.0031,1KG_SAS_AF,COL4A4
468445,2:227940333:T>C,NM_000092.4:c.1987+2277A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,3.193,\N,\N,COL4A4
468446,2:227940365:C>G,NM_000092.4:c.1987+2245G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.09,\N,\N,COL4A4
468447,2:227940381:A>G,NM_000092.4:c.1987+2229T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.682,0.0014,1KG_AMR_AF,COL4A4
468448,2:227940393:CA>C,NM_000092.4:c.1987+2216del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468449,2:227940394:A>G,NM_000092.4:c.1987+2216T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.039,0.0023,1KG_AFR_AF,COL4A4
468450,2:227940420:T>C,NM_000092.4:c.1987+2190A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,5.555,0.0008,1KG_AFR_AF,COL4A4
468451,2:227940470:C>T,NM_000092.4:c.1987+2140G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.895,\N,\N,COL4A4
468452,2:227940556:C>T,NM_000092.4:c.1987+2054G>A,\N,\N,25/47,Benign,\N,intron_variant,1.934,0.0051,1KG_SAS_AF,COL4A4
468453,2:227940567:C>T,NM_000092.4:c.1987+2043G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.677,\N,\N,COL4A4
468454,2:227940571:G>A,NM_000092.4:c.1987+2039C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.41,\N,\N,COL4A4
468455,2:227940593:C>T,NM_000092.4:c.1987+2017G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,6.953,0.0041,1KG_SAS_AF,COL4A4
468456,2:227940628:A>G,NM_000092.4:c.1987+1982T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.936,0.001,1KG_SAS_AF,COL4A4
468457,2:227940651:T>A,NM_000092.4:c.1987+1959A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,7.712,\N,\N,COL4A4
468458,2:227940661:C>T,NM_000092.4:c.1987+1949G>A,\N,\N,25/47,Benign,\N,intron_variant,10.74,0.0257,1KG_AFR_AF,COL4A4
468459,2:227940674:T>C,NM_000092.4:c.1987+1936A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,9.628,0.0029,1KG_AMR_AF,COL4A4
468460,2:227940706:C>A,NM_000092.4:c.1987+1904G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.616,\N,\N,COL4A4
468461,2:227940725:A>C,NM_000092.4:c.1987+1885T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.01,\N,\N,COL4A4
468462,2:227940733:C>T,NM_000092.4:c.1987+1877G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.222,0.001,1KG_EAS_AF,COL4A4
468463,2:227940738:G>A,NM_000092.4:c.1987+1872C>T,\N,\N,25/47,Benign,\N,intron_variant,1.726,0.1604,1KG_AFR_AF,COL4A4
468464,2:227940770:A>G,NM_000092.4:c.1987+1840T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.44,0.001,1KG_EUR_AF,COL4A4
468465,2:227940770:A>T,NM_000092.4:c.1987+1840T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.135,\N,\N,COL4A4
468466,2:227940785:AT>A,NM_000092.4:c.1987+1824del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468467,2:227940834:C>T,NM_000092.4:c.1987+1776G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.013,\N,\N,COL4A4
468468,2:227940840:T>A,NM_000092.4:c.1987+1770A>T,\N,\N,25/47,Benign,\N,intron_variant,3.169,0.1422,1KG_AFR_AF,COL4A4
468469,2:227940852:T>A,NM_000092.4:c.1987+1758A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,2.699,\N,\N,COL4A4
468470,2:227940867:C>T,NM_000092.4:c.1987+1743G>A,\N,\N,25/47,Benign,\N,intron_variant,1.83,0.5219,1KG_AFR_AF,COL4A4
468471,2:227940883:A>G,NM_000092.4:c.1987+1727T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.633,\N,\N,COL4A4
468472,2:227940919:C>T,NM_000092.4:c.1987+1691G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.924,0.001,1KG_EAS_AF,COL4A4
468473,2:227940969:C>T,NM_000092.4:c.1987+1641G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.117,\N,\N,COL4A4
468474,2:227940985:A>G,NM_000092.4:c.1987+1625T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,5.623,0.001,1KG_EUR_AF,COL4A4
468475,2:227941004:A>G,NM_000092.4:c.1987+1606T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.985,0.0041,1KG_SAS_AF,COL4A4
468476,2:227941005:G>C,NM_000092.4:c.1987+1605C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.609,0.002,1KG_EAS_AF,COL4A4
468477,2:227941018:A>G,NM_000092.4:c.1987+1592T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.441,0.001,1KG_EAS_AF,COL4A4
468478,2:227941036:C>G,NM_000092.4:c.1987+1574G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.375,\N,\N,COL4A4
468479,2:227941067:C>T,NM_000092.4:c.1987+1543G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.295,\N,\N,COL4A4
468480,2:227941100:T>C,NM_000092.4:c.1987+1510A>G,\N,\N,25/47,Benign,\N,intron_variant,0.92,0.0139,1KG_EUR_AF,COL4A4
468481,2:227941146:T>A,NM_000092.4:c.1987+1464A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.371,0.001,1KG_SAS_AF,COL4A4
468482,2:227941165:G>C,NM_000092.4:c.1987+1445C>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.318,0.002,1KG_SAS_AF,COL4A4
468483,2:227941175:C>T,NM_000092.4:c.1987+1435G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.406,\N,\N,COL4A4
468484,2:227941264:C>T,NM_000092.4:c.1987+1346G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.447,0.0014,1KG_AMR_AF,COL4A4
468485,2:227941272:A>T,NM_000092.4:c.1987+1338T>A,\N,\N,25/47,Benign,\N,intron_variant,1.829,0.005,1KG_EAS_AF,COL4A4
468486,2:227941275:T>C,NM_000092.4:c.1987+1335A>G,\N,\N,25/47,Benign,\N,intron_variant,0.5,0.005,1KG_EAS_AF,COL4A4
468487,2:227941286:A>G,NM_000092.4:c.1987+1324T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.307,0.002,1KG_EAS_AF,COL4A4
468488,2:227941290:G>A,NM_000092.4:c.1987+1320C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.781,0.0029,1KG_AMR_AF,COL4A4
468489,2:227941308:T>A,NM_000092.4:c.1987+1302A>T,\N,\N,25/47,Benign,\N,intron_variant,3.299,0.0582,1KG_AFR_AF,COL4A4
468490,2:227941314:A>T,NM_000092.4:c.1987+1296T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.11,0.0015,1KG_AFR_AF,COL4A4
468491,2:227941383:T>C,NM_000092.4:c.1987+1227A>G,\N,\N,25/47,Benign,\N,intron_variant,0.187,0.3147,1KG_AFR_AF,COL4A4
468492,2:227941383:TG>CA,NM_000092.4:c.1987+1226_1987+1227inv,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468493,2:227941388:C>G,NM_000092.4:c.1987+1222G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.223,\N,\N,COL4A4
468494,2:227941495:A>C,NM_000092.4:c.1987+1115T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.555,0.001,1KG_EUR_AF,COL4A4
468495,2:227941498:C>T,NM_000092.4:c.1987+1112G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.201,\N,\N,COL4A4
468496,2:227941515:A>G,NM_000092.4:c.1987+1095T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.856,0.001,1KG_SAS_AF,COL4A4
468497,2:227941552:G>GAC,NM_000092.4:c.1987+1057_1987+1058insGT,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468498,2:227941553:A>G,NM_000092.4:c.1987+1057T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,4.811,0.001,1KG_EUR_AF,COL4A4
468499,2:227941560:T>A,NM_000092.4:c.1987+1050A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.719,\N,\N,COL4A4
468500,2:227941635:C>T,NM_000092.4:c.1987+975G>A,\N,\N,25/47,Benign,\N,intron_variant,5.285,0.0893,1KG_AFR_AF,COL4A4
468501,2:227941637:A>C,NM_000092.4:c.1987+973T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.968,0.0015,1KG_AFR_AF,COL4A4
468502,2:227941667:G>A,NM_000092.4:c.1987+943C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.249,\N,\N,COL4A4
468503,2:227941672:TTAGAG>T,NM_000092.4:c.1987+933_1987+937del,\N,\N,25/47,Unknown significance,\N,intron_variant,3.262,\N,\N,COL4A4
468504,2:227941691:A>G,NM_000092.4:c.1987+919T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,1.775,\N,\N,COL4A4
468505,2:227941722:T>C,NM_000092.4:c.1987+888A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.439,0.001,1KG_SAS_AF,COL4A4
468506,2:227941724:T>C,NM_000092.4:c.1987+886A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.962,\N,\N,COL4A4
468507,2:227941735:G>A,NM_000092.4:c.1987+875C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.816,\N,\N,COL4A4
468508,2:227941740:C>G,NM_000092.4:c.1987+870G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.187,0.001,1KG_EAS_AF,COL4A4
468509,2:227941746:C>T,NM_000092.4:c.1987+864G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.32,\N,\N,COL4A4
468510,2:227941791:G>A,NM_000092.4:c.1987+819C>T,\N,\N,25/47,Benign,\N,intron_variant,1.182,0.0802,1KG_AFR_AF,COL4A4
468511,2:227941797:T>A,NM_000092.4:c.1987+813A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.52,\N,\N,COL4A4
468512,2:227941797:T>G,NM_000092.4:c.1987+813A>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.221,\N,\N,COL4A4
468513,2:227941810:A>T,NM_000092.4:c.1987+800T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.757,0.0008,1KG_AFR_AF,COL4A4
468514,2:227941815:G>A,NM_000092.4:c.1987+795C>T,\N,\N,25/47,Benign,\N,intron_variant,0.192,0.0083,1KG_AFR_AF,COL4A4
468515,2:227941885:A>G,NM_000092.4:c.1987+725T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.054,0.0038,1KG_AFR_AF,COL4A4
468516,2:227941888:A>G,NM_000092.4:c.1987+722T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.195,0.0014,1KG_AMR_AF,COL4A4
468517,2:227941897:C>T,NM_000092.4:c.1987+713G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.408,\N,\N,COL4A4
468518,2:227941915:T>C,NM_000092.4:c.1987+695A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.034,0.0014,1KG_AMR_AF,COL4A4
468519,2:227941942:C>A,NM_000092.4:c.1987+668G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.025,0.0014,1KG_AMR_AF,COL4A4
468520,2:227941953:A>C,NM_000092.4:c.1987+657T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.423,\N,\N,COL4A4
468521,2:227941968:A>G,NM_000092.4:c.1987+642T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.953,0.001,1KG_EUR_AF,COL4A4
468522,2:227941981:C>T,NM_000092.4:c.1987+629G>A,\N,\N,25/47,Benign,\N,intron_variant,0.245,0.2738,1KG_AFR_AF,COL4A4
468523,2:227941990:T>C,NM_000092.4:c.1987+620A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,3.443,0.0014,1KG_AMR_AF,COL4A4
468524,2:227942026:T>A,NM_000092.4:c.1987+584A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,6.322,\N,\N,COL4A4
468525,2:227942047:T>A,NM_000092.4:c.1987+563A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.226,\N,\N,COL4A4
468526,2:227942048:T>C,NM_000092.4:c.1987+562A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.612,0.001,1KG_EUR_AF,COL4A4
468527,2:227942077:AG>A,NM_000092.4:c.1987+532del,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468528,2:227942080:T>C,NM_000092.4:c.1987+530A>G,\N,\N,25/47,Benign,\N,intron_variant,1.33,0.4433,1KG_AFR_AF,COL4A4
468529,2:227942091:G>C,NM_000092.4:c.1987+519C>G,\N,\N,25/47,Benign,\N,intron_variant,0.373,0.0091,1KG_AFR_AF,COL4A4
468530,2:227942123:C>T,NM_000092.4:c.1987+487G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.651,0.0008,1KG_AFR_AF,COL4A4
468531,2:227942124:G>A,NM_000092.4:c.1987+486C>T,\N,\N,25/47,Benign,\N,intron_variant,0.04,0.0098,1KG_AFR_AF,COL4A4
468532,2:227942127:T>C,NM_000092.4:c.1987+483A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.115,\N,\N,COL4A4
468533,2:227942131:C>G,NM_000092.4:c.1987+479G>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.205,\N,\N,COL4A4
468534,2:227942146:G>T,NM_000092.4:c.1987+464C>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.872,\N,\N,COL4A4
468535,2:227942149:T>A,NM_000092.4:c.1987+461A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,5.225,\N,\N,COL4A4
468536,2:227942167:T>G,NM_000092.4:c.1987+443A>C,\N,\N,25/47,Benign,\N,intron_variant,0.074,0.0204,1KG_AFR_AF,COL4A4
468537,2:227942173:C>T,NM_000092.4:c.1987+437G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,2.45,0.0038,1KG_AFR_AF,COL4A4
468538,2:227942186:A>G,NM_000092.4:c.1987+424T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.638,0.0014,1KG_AMR_AF,COL4A4
468539,2:227942190:C>T,NM_000092.4:c.1987+420G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,3.519,0.001,1KG_EAS_AF,COL4A4
468540,2:227942197:T>C,NM_000092.4:c.1987+413A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.936,0.002,1KG_EAS_AF,COL4A4
468541,2:227942209:A>C,NM_000092.4:c.1987+401T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.584,\N,\N,COL4A4
468542,2:227942219:G>A,NM_000092.4:c.1987+391C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.38,0.0008,1KG_AFR_AF,COL4A4
468543,2:227942249:T>C,NM_000092.4:c.1987+361A>G,\N,\N,25/47,Benign,\N,intron_variant,0.37,0.0552,1KG_AFR_AF,COL4A4
468544,2:227942270:T>C,NM_000092.4:c.1987+340A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,3.978,\N,\N,COL4A4
468545,2:227942270:T>TA,NM_000092.4:c.1987+339dup,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468546,2:227942279:G>A,NM_000092.4:c.1987+331C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,3.553,\N,\N,COL4A4
468547,2:227942292:T>C,NM_000092.4:c.1987+318A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,1.267,0.0008,1KG_AFR_AF,COL4A4
468548,2:227942338:C>T,NM_000092.4:c.1987+272G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.388,0.0008,1KG_AFR_AF,COL4A4
468549,2:227942340:G>A,NM_000092.4:c.1987+270C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,0.377,0.0014,1KG_AMR_AF,COL4A4
468550,2:227942344:A>G,NM_000092.4:c.1987+266T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.454,0.0023,1KG_AFR_AF,COL4A4
468551,2:227942351:A>G,NM_000092.4:c.1987+259T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.074,0.001,1KG_EAS_AF,COL4A4
468552,2:227942371:A>T,NM_000092.4:c.1987+239T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.985,\N,\N,COL4A4
468553,2:227942379:T>TAAAGAA,NM_000092.4:c.1987+225_1987+230dup,\N,\N,25/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468554,2:227942379:TAAAGAA>T,NM_000092.4:c.1987+225_1987+230del,\N,\N,25/47,Benign,\N,intron_variant,3.744,0.1029,1KG_AFR_AF,COL4A4
468555,2:227942385:A>T,NM_000092.4:c.1987+225T>A,\N,\N,25/47,Benign,\N,intron_variant,0.774,0.0136,1KG_AFR_AF,COL4A4
468556,2:227942394:A>G,NM_000092.4:c.1987+216T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.845,0.0008,1KG_AFR_AF,COL4A4
468557,2:227942414:A>AG,NM_000092.4:c.1987+195dup,\N,\N,25/47,Unknown significance,\N,intron_variant,0.113,0.003,1KG_EUR_AF,COL4A4
468558,2:227942415:G>GA,NM_000092.4:c.1987+194dup,\N,\N,25/47,Unknown significance,\N,intron_variant,0.242,\N,\N,COL4A4
468559,2:227942428:A>G,NM_000092.4:c.1987+182T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,0.893,0.0023,1KG_AFR_AF,COL4A4
468560,2:227942441:G>A,NM_000092.4:c.1987+169C>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.409,0.001,1KG_SAS_AF,COL4A4
468561,2:227942471:C>T,NM_000092.4:c.1987+139G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.2,\N,\N,COL4A4
468562,2:227942494:C>T,NM_000092.4:c.1987+116G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.052,\N,\N,COL4A4
468563,2:227942495:G>A,NM_000092.4:c.1987+115C>T,\N,\N,25/47,Benign,\N,intron_variant,0.041,0.0058,1KG_AMR_AF,COL4A4
468564,2:227942498:T>C,NM_000092.4:c.1987+112A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,2.235,\N,\N,COL4A4
468565,2:227942501:C>A,NM_000092.4:c.1987+109G>T,\N,\N,25/47,Benign,\N,intron_variant,1.276,0.0083,1KG_AFR_AF,COL4A4
468566,2:227942519:A>G,NM_000092.4:c.1987+91T>C,\N,\N,25/47,Benign,\N,intron_variant,7.675,0.3064,1KG_AFR_AF,COL4A4
468567,2:227942530:C>T,NM_000092.4:c.1987+80G>A,\N,\N,25/47,Unknown significance,\N,intron_variant,4.718,0.001,1KG_EUR_AF,COL4A4
468568,2:227942532:A>G,NM_000092.4:c.1987+78T>C,\N,\N,25/47,Benign,\N,intron_variant,5.475,0.005,1KG_EUR_AF,COL4A4
468569,2:227942559:A>T,NM_000092.4:c.1987+51T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,1.675,0.000265534,EXAC_AFR_AF,COL4A4
468570,2:227942562:A>G,NM_000092.4:c.1987+48T>C,\N,\N,25/47,Benign,\N,intron_variant,2.196,0.0140212,EXAC_AFR_AF,COL4A4
468571,2:227942570:C>A,NM_000092.4:c.1987+40G>T,\N,\N,25/47,Unknown significance,\N,intron_variant,4.115,0.0014,1KG_AMR_AF,COL4A4
468572,2:227942578:T>C,NM_000092.4:c.1987+32A>G,\N,\N,25/47,Unknown significance,\N,intron_variant,6.697,0.0000346428,EXAC_NFE_AF,COL4A4
468573,2:227942579:A>G,NM_000092.4:c.1987+31T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,7.303,0.000247893,EXAC_AFR_AF,COL4A4
468574,2:227942589:A>G,NM_000092.4:c.1987+21T>C,\N,\N,25/47,Unknown significance,\N,intron_variant,3.368,\N,\N,COL4A4
468575,2:227942591:A>C,NM_000092.4:c.1987+19T>G,\N,\N,25/47,Unknown significance,\N,intron_variant,0.125,0.000496114,EXAC_SAS_AF,COL4A4
468576,2:227942594:A>AT,NM_000092.4:c.1987+15dup,\N,\N,25/47,Unknown significance,\N,intron_variant,0.009,0.00027522,EXAC_NFE_AF,COL4A4
468577,2:227942594:A>T,NM_000092.4:c.1987+16T>A,\N,\N,25/47,Unknown significance,\N,intron_variant,0.039,0.003,1KG_EUR_AF,COL4A4
468578,2:227942601:T>A,NM_000092.4:c.1987+9A>T,\N,\N,25/47,Unknown significance,\N,intron_variant,1.49,0.0000202224,EXAC_NFE_AF,COL4A4
468579,2:227942602:A>T,NM_000092.4:c.1987+8T>A,\N,\N,25/47,Unknown significance,\N,splice_region_variant&intron_variant,0.163,0.0000196719,EXAC_NFE_AF,COL4A4
468580,2:227942611:T>C,NM_000092.4:c.1986A>G,NP_000083.3:p.Lys662=,25/48,\N,Pathogenic,Alport syndrome,splice_region_variant&synonymous_variant,15.28,\N,\N,COL4A4
468581,2:227942625:A>T,NM_000092.4:c.1972T>A,NP_000083.3:p.Leu658Met,25/48,\N,Likely benign,\N,missense_variant,16.29,0.0000158765,EXAC_NFE_AF,COL4A4
468582,2:227942627:C>G,NM_000092.4:c.1970G>C,NP_000083.3:p.Gly657Ala,25/48,\N,Unknown significance,\N,missense_variant,24.9,0.0000888573,EXAC_AMR_AF,COL4A4
468583,2:227942635:G>A,NM_000092.4:c.1962C>T,NP_000083.3:p.Gly654=,25/48,\N,Unknown significance,\N,synonymous_variant,11.22,0.000368641,EVS_EA_AF,COL4A4
468584,2:227942644:A>T,NM_000092.4:c.1953T>A,NP_000083.3:p.Gly651=,25/48,\N,Unknown significance,\N,synonymous_variant,0.099,0.0000156495,EXAC_NFE_AF,COL4A4
468585,2:227942644:ACCTGGGTGGCCTGGAACT>A,NM_000092.4:c.1935_1952del,NP_000083.3:p.Pro647_Val652del,25/48,\N,Likely pathogenic,Alport syndrome,inframe_deletion,19.87,\N,\N,COL4A4
468586,2:227942665:T>C,NM_000092.4:c.1932A>G,NP_000083.3:p.Pro644=,25/48,\N,Unknown significance,\N,synonymous_variant,0.184,\N,\N,COL4A4
468587,2:227942675:C>T,NM_000092.4:c.1922G>A,NP_000083.3:p.Arg641Gln,25/48,\N,Unknown significance,\N,missense_variant,23.5,0.0000155308,EXAC_NFE_AF,COL4A4
468588,2:227942676:G>A,NM_000092.4:c.1921C>T,NP_000083.3:p.Arg641Ter,25/48,\N,Unknown significance,\N,stop_gained,35,0.0000155202,EXAC_NFE_AF,COL4A4
468589,2:227942677:C>G,NM_000092.4:c.1920G>C,NP_000083.3:p.Glu640Asp,25/48,\N,Likely benign,\N,missense_variant,0.19,0.000110375,EXAC_AFR_AF,COL4A4
468590,2:227942679:C>G,NM_000092.4:c.1918G>C,NP_000083.3:p.Glu640Gln,25/48,\N,Likely benign,\N,missense_variant,0.002,0.000117398,EXAC_EAS_AF,COL4A4
468591,2:227942679:C>T,NM_000092.4:c.1918G>A,NP_000083.3:p.Glu640Lys,25/48,\N,Likely benign,\N,missense_variant,0.077,0.0000609236,EXAC_SAS_AF,COL4A4
468592,2:227942683:T>C,NM_000092.4:c.1914A>G,NP_000083.3:p.Pro638=,25/48,\N,Unknown significance,\N,synonymous_variant,1.384,0.000117398,EXAC_EAS_AF,COL4A4
468593,2:227942686:T>G,NM_000092.4:c.1911A>C,NP_000083.3:p.Pro637=,25/48,\N,Unknown significance,\N,synonymous_variant,7.935,0.0000155048,EXAC_NFE_AF,COL4A4
468594,2:227942688:G>A,NM_000092.4:c.1909C>T,NP_000083.3:p.Pro637Ser,25/48,\N,Unknown significance,\N,missense_variant,23.1,0.000329888,EXAC_AFR_AF,COL4A4
468595,2:227942694:G>A,NM_000092.4:c.1903C>T,NP_000083.3:p.Pro635Ser,25/48,\N,Unknown significance,\N,missense_variant,27.7,0.0000610277,EXAC_SAS_AF,COL4A4
468596,2:227942704:T>C,NM_000092.4:c.1893A>G,NP_000083.3:p.Gly631=,25/48,\N,Unknown significance,\N,synonymous_variant,3.1,0.00475784,EXAC_SAS_AF,COL4A4
468597,2:227942707:TG>T,NM_000092.4:c.1889del,NP_000083.3:p.Pro630GlnfsTer23,25/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
468598,2:227942712:G>C,NM_000092.4:c.1885C>G,NP_000083.3:p.Pro629Ala,25/48,\N,Likely benign,\N,missense_variant,16.45,0.0000878735,EXAC_AMR_AF,COL4A4
468599,2:227942713:C>T,NM_000092.4:c.1884G>A,NP_000083.3:p.Gly628=,25/48,\N,Unknown significance,\N,synonymous_variant,12.87,0.000156152,EXAC_FIN_AF,COL4A4
468600,2:227942740:G>A,NM_000092.4:c.1857C>T,NP_000083.3:p.Gly619=,25/48,\N,Unknown significance,\N,synonymous_variant,0.198,0.0000611696,EXAC_SAS_AF,COL4A4
468601,2:227942740:G>C,NM_000092.4:c.1857C>G,NP_000083.3:p.Gly619=,25/48,\N,Unknown significance,\N,synonymous_variant,0.018,0.000122339,EXAC_SAS_AF,COL4A4
468602,2:227942741:C>T,NM_000092.4:c.1856G>A,NP_000083.3:p.Gly619Asp,25/48,\N,Unknown significance,\N,missense_variant,25.3,0.000274876,EVS_AA_AF,COL4A4
468603,2:227942745:G>A,NM_000092.4:c.1852C>T,NP_000083.3:p.Leu618=,25/48,\N,Unknown significance,\N,synonymous_variant,4.433,0.0000877963,EXAC_AMR_AF,COL4A4
468604,2:227942752:A>G,NM_000092.4:c.1845T>C,NP_000083.3:p.Pro615=,25/48,\N,Unknown significance,\N,synonymous_variant,0.233,0.0000878889,EXAC_AMR_AF,COL4A4
468605,2:227942760:C>T,NM_000092.4:c.1837G>A,NP_000083.3:p.Gly613Arg,25/48,\N,Pathogenic,Alport syndrome,missense_variant,26.6,\N,\N,COL4A4
468606,2:227942764:A>G,NM_000092.4:c.1833T>C,NP_000083.3:p.Gly611=,25/48,\N,Benign,\N,synonymous_variant,0.603,0.008,1KG_EUR_AF,COL4A4
468607,2:227942766:C>T,NM_000092.4:c.1831G>A,NP_000083.3:p.Gly611Ser,25/48,\N,Likely benign,\N,missense_variant,12.01,\N,\N,COL4A4
468608,2:227942770:TG>T,NM_000092.4:c.1826del,NP_000083.3:p.Pro609GlnfsTer44,25/48,\N,Pathogenic,Alport syndrome,frameshift_variant,\N,\N,\N,COL4A4
468609,2:227942773:G>T,NM_000092.4:c.1824C>A,NP_000083.3:p.Thr608=,25/48,\N,Unknown significance,\N,synonymous_variant,0.16,0.000117426,EXAC_EAS_AF,COL4A4
468610,2:227942774:G>T,NM_000092.4:c.1823C>A,NP_000083.3:p.Thr608Asn,25/48,\N,Likely benign,\N,missense_variant,0.002,0.0000306316,EXAC_NFE_AF,COL4A4
468611,2:227942776:C>T,NM_000092.4:c.1821G>A,NP_000083.3:p.Ala607=,25/48,\N,Benign,\N,synonymous_variant,12.23,0.0552,1KG_AFR_AF,COL4A4
468612,2:227942777:G>A,NM_000092.4:c.1820C>T,NP_000083.3:p.Ala607Val,25/48,\N,Unknown significance,\N,missense_variant,27.6,0.000243546,EVS_EA_AF,COL4A4
468613,2:227942777:G>C,NM_000092.4:c.1820C>G,NP_000083.3:p.Ala607Gly,25/48,\N,Unknown significance,\N,missense_variant,21.1,0.000062383,EXAC_SAS_AF,COL4A4
468614,2:227942778:C>T,NM_000092.4:c.1819G>A,NP_000083.3:p.Ala607Thr,25/48,\N,Benign,\N,missense_variant,26.9,0.0053,1KG_AFR_AF,COL4A4
468615,2:227942785:A>G,NM_000092.4:c.1812T>C,NP_000083.3:p.His604=,25/48,\N,Unknown significance,\N,synonymous_variant,0.522,0.00198786,EXAC_AFR_AF,COL4A4
468616,2:227942791:C>T,NM_000092.4:c.1806G>A,NP_000083.3:p.Gly602=,25/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,7.036,0.000121566,EVS_EA_AF,COL4A4
468617,2:227942796:G>A,NM_000092.4:c.1804-3C>T,\N,\N,24/47,Unknown significance,\N,splice_region_variant&intron_variant,9.967,0.0000466708,EXAC_NFE_AF,COL4A4
468618,2:227942815:T>TC,NM_000092.4:c.1804-23dup,\N,\N,24/47,Unknown significance,\N,intron_variant,4.291,0.000106496,EXAC_AFR_AF,COL4A4
468619,2:227942818:A>G,NM_000092.4:c.1804-25T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,5.134,0.00024426,EXAC_EAS_AF,COL4A4
468620,2:227942834:T>A,NM_000092.4:c.1804-41A>T,\N,\N,24/47,Unknown significance,\N,intron_variant,8.354,0.0045,1KG_AFR_AF,COL4A4
468621,2:227942868:A>G,NM_000092.4:c.1804-75T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,2.305,0.002,1KG_SAS_AF,COL4A4
468622,2:227942875:C>T,NM_000092.4:c.1804-82G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,2.29,0.0015,1KG_AFR_AF,COL4A4
468623,2:227942877:C>G,NM_000092.4:c.1804-84G>C,\N,\N,24/47,Unknown significance,\N,intron_variant,0.806,\N,\N,COL4A4
468624,2:227942877:C>T,NM_000092.4:c.1804-84G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.688,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
468625,2:227942878:G>A,NM_000092.4:c.1804-85C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,1.899,0.0045,1KG_AFR_AF,COL4A4
468626,2:227942880:A>G,NM_000092.4:c.1804-87T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,3.287,0.001,1KG_EAS_AF,COL4A4
468627,2:227942886:C>T,NM_000092.4:c.1804-93G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,3.429,0.001,1KG_SAS_AF,COL4A4
468628,2:227942951:T>C,NM_000092.4:c.1804-158A>G,\N,\N,24/47,Benign,\N,intron_variant,2.4,0.8026,1KG_AFR_AF,COL4A4
468629,2:227942963:A>AAT,NM_000092.4:c.1804-172_1804-171dup,\N,\N,24/47,Unknown significance,\N,intron_variant,0.259,\N,\N,COL4A4
468630,2:227943001:C>A,NM_000092.4:c.1804-208G>T,\N,\N,24/47,Benign,\N,intron_variant,2.403,0.005,1KG_EUR_AF,COL4A4
468631,2:227943020:G>C,NM_000092.4:c.1804-227C>G,\N,\N,24/47,Unknown significance,\N,intron_variant,2.977,0.003,1KG_EUR_AF,COL4A4
468632,2:227943027:C>T,NM_000092.4:c.1804-234G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.042,\N,\N,COL4A4
468633,2:227943060:G>T,NM_000092.4:c.1804-267C>A,\N,\N,24/47,Benign,\N,intron_variant,0.577,0.0833,1KG_EAS_AF,COL4A4
468634,2:227943070:T>C,NM_000092.4:c.1804-277A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,3.358,\N,\N,COL4A4
468635,2:227943089:G>A,NM_000092.4:c.1804-296C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,5.426,0.0015,1KG_AFR_AF,COL4A4
468636,2:227943150:A>C,NM_000092.4:c.1804-357T>G,\N,\N,24/47,Unknown significance,\N,intron_variant,1.186,\N,\N,COL4A4
468637,2:227943155:C>T,NM_000092.4:c.1804-362G>A,\N,\N,24/47,Benign,\N,intron_variant,5.358,0.0082,1KG_SAS_AF,COL4A4
468638,2:227943190:C>A,NM_000092.4:c.1804-397G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,6.949,0.0014,1KG_AMR_AF,COL4A4
468639,2:227943190:C>T,NM_000092.4:c.1804-397G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,5.811,\N,\N,COL4A4
468640,2:227943191:T>C,NM_000092.4:c.1804-398A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,4.108,0.001,1KG_SAS_AF,COL4A4
468641,2:227943214:G>A,NM_000092.4:c.1804-421C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,0.273,\N,\N,COL4A4
468642,2:227943221:G>T,NM_000092.4:c.1804-428C>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.651,0.001,1KG_EAS_AF,COL4A4
468643,2:227943234:A>G,NM_000092.4:c.1804-441T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,1.893,\N,\N,COL4A4
468644,2:227943239:C>A,NM_000092.4:c.1804-446G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,0.208,\N,\N,COL4A4
468645,2:227943241:G>A,NM_000092.4:c.1804-448C>T,\N,\N,24/47,Benign,\N,intron_variant,0.251,0.0099,1KG_EAS_AF,COL4A4
468646,2:227943242:C>T,NM_000092.4:c.1804-449G>A,\N,\N,24/47,Benign,\N,intron_variant,0.351,0.0802,1KG_AFR_AF,COL4A4
468647,2:227943272:A>C,NM_000092.4:c.1804-479T>G,\N,\N,24/47,Unknown significance,\N,intron_variant,4.822,\N,\N,COL4A4
468648,2:227943281:CATATA>C,NM_000092.4:c.1804-493_1804-489del,\N,\N,24/47,Unknown significance,\N,intron_variant,9.408,0.0023,1KG_AFR_AF,COL4A4
468649,2:227943290:T>C,NM_000092.4:c.1804-497A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,2.729,0.001,1KG_EAS_AF,COL4A4
468650,2:227943299:G>A,NM_000092.4:c.1804-506C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,1.108,\N,\N,COL4A4
468651,2:227943315:A>T,NM_000092.4:c.1804-522T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.677,0.001,1KG_EUR_AF,COL4A4
468652,2:227943325:A>T,NM_000092.4:c.1804-532T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,2.601,0.001,1KG_SAS_AF,COL4A4
468653,2:227943359:A>T,NM_000092.4:c.1804-566T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,10.35,0.001,1KG_EUR_AF,COL4A4
468654,2:227943408:A>G,NM_000092.4:c.1804-615T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,2.265,0.001,1KG_EUR_AF,COL4A4
468655,2:227943411:T>A,NM_000092.4:c.1804-618A>T,\N,\N,24/47,Unknown significance,\N,intron_variant,5.388,\N,\N,COL4A4
468656,2:227943451:C>T,NM_000092.4:c.1804-658G>A,\N,\N,24/47,Benign,\N,intron_variant,2.196,0.1696,1KG_EAS_AF,COL4A4
468657,2:227943480:C>T,NM_000092.4:c.1804-687G>A,\N,\N,24/47,Benign,\N,intron_variant,2.27,0.2776,1KG_AFR_AF,COL4A4
468658,2:227943502:C>A,NM_000092.4:c.1804-709G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,2.548,0.0008,1KG_AFR_AF,COL4A4
468659,2:227943507:G>A,NM_000092.4:c.1804-714C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,2.888,0.001,1KG_SAS_AF,COL4A4
468660,2:227943521:C>A,NM_000092.4:c.1804-728G>T,\N,\N,24/47,Benign,\N,intron_variant,6.183,0.0072,1KG_SAS_AF,COL4A4
468661,2:227943541:A>G,NM_000092.4:c.1804-748T>C,\N,\N,24/47,Benign,\N,intron_variant,1.467,0.09,1KG_AFR_AF,COL4A4
468662,2:227943570:G>T,NM_000092.4:c.1804-777C>A,\N,\N,24/47,Benign,\N,intron_variant,0.82,0.0072,1KG_SAS_AF,COL4A4
468663,2:227943616:G>T,NM_000092.4:c.1804-823C>A,\N,\N,24/47,Benign,\N,intron_variant,0.653,0.0051,1KG_SAS_AF,COL4A4
468664,2:227943633:A>G,NM_000092.4:c.1804-840T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,3.552,0.0014,1KG_AMR_AF,COL4A4
468665,2:227943638:C>G,NM_000092.4:c.1804-845G>C,\N,\N,24/47,Unknown significance,\N,intron_variant,1.455,0.001,1KG_SAS_AF,COL4A4
468666,2:227943712:C>A,NM_000092.4:c.1804-919G>T,\N,\N,24/47,Benign,\N,intron_variant,1.431,0.3599,1KG_SAS_AF,COL4A4
468667,2:227943716:C>A,NM_000092.4:c.1804-923G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,4.178,\N,\N,COL4A4
468668,2:227943718:C>T,NM_000092.4:c.1804-925G>A,\N,\N,24/47,Benign,\N,intron_variant,4.337,0.0136,1KG_AFR_AF,COL4A4
468669,2:227943752:C>T,NM_000092.4:c.1804-959G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,6.392,0.001,1KG_EAS_AF,COL4A4
468670,2:227943771:G>A,NM_000092.4:c.1804-978C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,2.965,0.0008,1KG_AFR_AF,COL4A4
468671,2:227943778:A>G,NM_000092.4:c.1804-985T>C,\N,\N,24/47,Benign,\N,intron_variant,4.932,0.025,1KG_AFR_AF,COL4A4
468672,2:227943795:A>G,NM_000092.4:c.1804-1002T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,2.146,\N,\N,COL4A4
468673,2:227943833:C>T,NM_000092.4:c.1804-1040G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.285,\N,\N,COL4A4
468674,2:227943835:C>T,NM_000092.4:c.1804-1042G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.679,0.0014,1KG_AMR_AF,COL4A4
468675,2:227943838:G>A,NM_000092.4:c.1804-1045C>T,\N,\N,24/47,Benign,\N,intron_variant,2.104,0.0686,1KG_EUR_AF,COL4A4
468676,2:227943908:C>CT,NM_000092.4:c.1804-1116dup,\N,\N,24/47,Benign,\N,intron_variant,4.57,0.364,1KG_SAS_AF,COL4A4
468677,2:227943925:G>C,NM_000092.4:c.1804-1132C>G,\N,\N,24/47,Unknown significance,\N,intron_variant,0.797,0.003,1KG_AFR_AF,COL4A4
468678,2:227943978:C>T,NM_000092.4:c.1803+1181G>A,\N,\N,24/47,Benign,\N,intron_variant,2.663,0.0051,1KG_SAS_AF,COL4A4
468679,2:227943998:C>T,NM_000092.4:c.1803+1161G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.362,0.001,1KG_EAS_AF,COL4A4
468680,2:227943999:G>A,NM_000092.4:c.1803+1160C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,0.631,\N,\N,COL4A4
468681,2:227944004:T>C,NM_000092.4:c.1803+1155A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,0.409,0.001,1KG_EUR_AF,COL4A4
468682,2:227944013:G>A,NM_000092.4:c.1803+1146C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,0.426,0.001,1KG_EAS_AF,COL4A4
468683,2:227944032:A>G,NM_000092.4:c.1803+1127T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,2.962,0.003,1KG_EAS_AF,COL4A4
468684,2:227944037:C>T,NM_000092.4:c.1803+1122G>A,\N,\N,24/47,Benign,\N,intron_variant,2.903,0.1241,1KG_AFR_AF,COL4A4
468685,2:227944074:A>C,NM_000092.4:c.1803+1085T>G,\N,\N,24/47,Unknown significance,\N,intron_variant,1.789,\N,\N,COL4A4
468686,2:227944080:A>T,NM_000092.4:c.1803+1079T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,2.913,0.001,1KG_EUR_AF,COL4A4
468687,2:227944140:A>T,NM_000092.4:c.1803+1019T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,7.625,0.001,1KG_EUR_AF,COL4A4
468688,2:227944143:A>G,NM_000092.4:c.1803+1016T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,7.723,\N,\N,COL4A4
468689,2:227944170:C>A,NM_000092.4:c.1803+989G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,1.549,\N,\N,COL4A4
468690,2:227944204:C>T,NM_000092.4:c.1803+955G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,15.3,\N,\N,COL4A4
468691,2:227944299:G>T,NM_000092.4:c.1803+860C>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.829,\N,\N,COL4A4
468692,2:227944308:T>C,NM_000092.4:c.1803+851A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,4.637,\N,\N,COL4A4
468693,2:227944370:A>G,NM_000092.4:c.1803+789T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,3.362,\N,\N,COL4A4
468694,2:227944371:A>G,NM_000092.4:c.1803+788T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,3.434,\N,\N,COL4A4
468695,2:227944373:A>T,NM_000092.4:c.1803+786T>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.697,\N,\N,COL4A4
468696,2:227944449:T>C,NM_000092.4:c.1803+710A>G,\N,\N,24/47,Benign,\N,intron_variant,0.742,0.0092,1KG_SAS_AF,COL4A4
468697,2:227944457:C>T,NM_000092.4:c.1803+702G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.931,0.001,1KG_SAS_AF,COL4A4
468698,2:227944477:T>C,NM_000092.4:c.1803+682A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,1.62,\N,\N,COL4A4
468699,2:227944526:A>C,NM_000092.4:c.1803+633T>G,\N,\N,24/47,Benign,\N,intron_variant,1.826,0.0098,1KG_AFR_AF,COL4A4
468700,2:227944529:T>C,NM_000092.4:c.1803+630A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,0.488,\N,\N,COL4A4
468701,2:227944563:A>G,NM_000092.4:c.1803+596T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,4.116,0.0014,1KG_AMR_AF,COL4A4
468702,2:227944569:T>G,NM_000092.4:c.1803+590A>C,\N,\N,24/47,Unknown significance,\N,intron_variant,6.779,0.002,1KG_EAS_AF,COL4A4
468703,2:227944578:A>G,NM_000092.4:c.1803+581T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,9.577,0.001,1KG_EAS_AF,COL4A4
468704,2:227944584:C>T,NM_000092.4:c.1803+575G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,3.566,\N,\N,COL4A4
468705,2:227944585:G>A,NM_000092.4:c.1803+574C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,5.696,0.001,1KG_SAS_AF,COL4A4
468706,2:227944598:C>A,NM_000092.4:c.1803+561G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,2.138,0.0008,1KG_AFR_AF,COL4A4
468707,2:227944627:C>A,NM_000092.4:c.1803+532G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,6.032,0.001,1KG_EAS_AF,COL4A4
468708,2:227944628:C>T,NM_000092.4:c.1803+531G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,2.385,0.001,1KG_EAS_AF,COL4A4
468709,2:227944629:T>C,NM_000092.4:c.1803+530A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,4.571,0.001,1KG_SAS_AF,COL4A4
468710,2:227944639:A>G,NM_000092.4:c.1803+520T>C,\N,\N,24/47,Benign,\N,intron_variant,3.474,0.0089,1KG_EAS_AF,COL4A4
468711,2:227944644:C>T,NM_000092.4:c.1803+515G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,5.402,0.003,1KG_EUR_AF,COL4A4
468712,2:227944649:C>T,NM_000092.4:c.1803+510G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,2.888,0.0023,1KG_AFR_AF,COL4A4
468713,2:227944698:C>T,NM_000092.4:c.1803+461G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,7.742,0.001,1KG_EAS_AF,COL4A4
468714,2:227944705:C>T,NM_000092.4:c.1803+454G>A,\N,\N,24/47,Benign,\N,intron_variant,2.23,0.1944,1KG_EAS_AF,COL4A4
468715,2:227944728:C>T,NM_000092.4:c.1803+431G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.224,0.001,1KG_SAS_AF,COL4A4
468716,2:227944756:C>A,NM_000092.4:c.1803+403G>T,\N,\N,24/47,Unknown significance,\N,intron_variant,7.034,0.001,1KG_EAS_AF,COL4A4
468717,2:227944770:T>C,NM_000092.4:c.1803+389A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,10.92,0.0008,1KG_AFR_AF,COL4A4
468718,2:227944805:A>G,NM_000092.4:c.1803+354T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,2.549,0.001,1KG_EAS_AF,COL4A4
468719,2:227944808:C>T,NM_000092.4:c.1803+351G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.499,\N,\N,COL4A4
468720,2:227944860:G>C,NM_000092.4:c.1803+299C>G,\N,\N,24/47,Unknown significance,\N,intron_variant,2.653,0.0008,1KG_AFR_AF,COL4A4
468721,2:227944904:C>T,NM_000092.4:c.1803+255G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,0.907,0.001,1KG_SAS_AF,COL4A4
468722,2:227944910:T>C,NM_000092.4:c.1803+249A>G,\N,\N,24/47,Benign,\N,intron_variant,3.239,0.0068,1KG_AFR_AF,COL4A4
468723,2:227944922:C>G,NM_000092.4:c.1803+237G>C,\N,\N,24/47,Unknown significance,\N,intron_variant,0.118,0.001,1KG_EAS_AF,COL4A4
468724,2:227944923:A>G,NM_000092.4:c.1803+236T>C,\N,\N,24/47,Benign,\N,intron_variant,0.338,0.0179,1KG_EAS_AF,COL4A4
468725,2:227944929:C>T,NM_000092.4:c.1803+230G>A,\N,\N,24/47,Unknown significance,\N,intron_variant,1.155,\N,\N,COL4A4
468726,2:227944930:G>A,NM_000092.4:c.1803+229C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,3.713,0.001,1KG_EUR_AF,COL4A4
468727,2:227944942:A>C,NM_000092.4:c.1803+217T>G,\N,\N,24/47,Unknown significance,\N,intron_variant,1.231,\N,\N,COL4A4
468728,2:227944972:A>G,NM_000092.4:c.1803+187T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,4.539,0.0008,1KG_AFR_AF,COL4A4
468729,2:227944979:A>G,NM_000092.4:c.1803+180T>C,\N,\N,24/47,Benign,\N,intron_variant,2.868,0.005,1KG_EAS_AF,COL4A4
468730,2:227945001:A>G,NM_000092.4:c.1803+158T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,1.571,0.0008,1KG_AFR_AF,COL4A4
468731,2:227945042:T>C,NM_000092.4:c.1803+117A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,3.515,0.0008,1KG_AFR_AF,COL4A4
468732,2:227945082:T>C,NM_000092.4:c.1803+77A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,2.534,\N,\N,COL4A4
468733,2:227945093:G>A,NM_000092.4:c.1803+66C>T,\N,\N,24/47,Unknown significance,\N,intron_variant,5.424,0.003,1KG_EAS_AF,COL4A4
468734,2:227945108:A>G,NM_000092.4:c.1803+51T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,1.946,0.000116117,EXAC_EAS_AF,COL4A4
468735,2:227945109:T>G,NM_000092.4:c.1803+50A>C,\N,\N,24/47,Unknown significance,\N,intron_variant,4.858,0.0000149925,EXAC_NFE_AF,COL4A4
468736,2:227945117:T>A,NM_000092.4:c.1803+42A>T,\N,\N,24/47,Unknown significance,\N,intron_variant,6.567,0.00017298,EXAC_AMR_AF,COL4A4
468737,2:227945121:A>G,NM_000092.4:c.1803+38T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,3.5,0.001,1KG_SAS_AF,COL4A4
468738,2:227945122:A>G,NM_000092.4:c.1803+37T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,7.084,\N,\N,COL4A4
468739,2:227945123:A>G,NM_000092.4:c.1803+36T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,6.722,0.00011609,EXAC_EAS_AF,COL4A4
468740,2:227945124:G>C,NM_000092.4:c.1803+35C>G,\N,\N,24/47,Unknown significance,\N,intron_variant,1.831,0.0000149912,EXAC_NFE_AF,COL4A4
468741,2:227945129:A>G,NM_000092.4:c.1803+30T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,5.273,0.0008,1KG_AFR_AF,COL4A4
468742,2:227945130:T>C,NM_000092.4:c.1803+29A>G,\N,\N,24/47,Unknown significance,\N,intron_variant,4.925,0.0000149907,EXAC_NFE_AF,COL4A4
468743,2:227945141:GAGA>G,NM_000092.4:c.1803+15_1803+17del,\N,\N,24/47,Unknown significance,\N,intron_variant,4.093,0.000060584,EXAC_SAS_AF,COL4A4
468744,2:227945147:A>G,NM_000092.4:c.1803+12T>C,\N,\N,24/47,Unknown significance,\N,intron_variant,5.05,0.000102145,EXAC_AFR_AF,COL4A4
468745,2:227945155:A>T,NM_000092.4:c.1803+4T>A,\N,\N,24/47,Unknown significance,\N,splice_region_variant&intron_variant,2.575,0.0000149907,EXAC_NFE_AF,COL4A4
468746,2:227945156:T>C,NM_000092.4:c.1803+3A>G,\N,\N,24/47,Unknown significance,\N,splice_region_variant&intron_variant,5.712,0.0000149907,EXAC_NFE_AF,COL4A4
468747,2:227945159:TG>T,NM_000092.4:c.1802del,NP_000083.3:p.Pro601GlnfsTer52,24/48,\N,Pathogenic,Alport syndrome,frameshift_variant&splice_region_variant,24.5,\N,\N,COL4A4
468748,2:227945161:G>C,NM_000092.4:c.1801C>G,NP_000083.3:p.Pro601Ala,24/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,22,0.0000149903,EXAC_NFE_AF,COL4A4
468749,2:227945164:G>T,NM_000092.4:c.1798C>A,NP_000083.3:p.Pro600Thr,24/48,\N,Unknown significance,\N,missense_variant,7.727,\N,\N,COL4A4
468750,2:227945167:C>T,NM_000092.4:c.1795G>A,NP_000083.3:p.Gly599Arg,24/48,\N,Pathogenic,Alport syndrome,missense_variant,27.9,\N,\N,COL4A4
468751,2:227945173:C>T,NM_000092.4:c.1789G>A,NP_000083.3:p.Asp597Asn,24/48,\N,Likely benign,\N,missense_variant,22.9,0.0000605914,EXAC_SAS_AF,COL4A4
468752,2:227945174:C>T,NM_000092.4:c.1788G>A,NP_000083.3:p.Gly596=,24/48,\N,Unknown significance,\N,synonymous_variant,11.81,0.000121892,EVS_EA_AF,COL4A4
468753,2:227945180:T>C,NM_000092.4:c.1782A>G,NP_000083.3:p.Glu594=,24/48,\N,Unknown significance,\N,synonymous_variant,0.035,0.002,1KG_EAS_AF,COL4A4
468754,2:227945181:T>C,NM_000092.4:c.1781A>G,NP_000083.3:p.Glu594Gly,24/48,\N,Benign,\N,missense_variant,20.6,0.0817,1KG_AFR_AF,COL4A4
468755,2:227945181:T>G,NM_000092.4:c.1781A>C,NP_000083.3:p.Glu594Ala,24/48,\N,Likely benign,\N,missense_variant,14.43,0.000102062,EXAC_AFR_AF,COL4A4
468756,2:227945186:A>G,NM_000092.4:c.1776T>C,NP_000083.3:p.Ala592=,24/48,\N,Unknown significance,\N,synonymous_variant,4.036,0.00438955,EXAC_AFR_AF,COL4A4
468757,2:227945187:G>A,NM_000092.4:c.1775C>T,NP_000083.3:p.Ala592Val,24/48,\N,Likely benign,\N,missense_variant,20.9,0.0000149912,EXAC_NFE_AF,COL4A4
468758,2:227945188:C>G,NM_000092.4:c.1774G>C,NP_000083.3:p.Ala592Pro,24/48,\N,Likely benign,\N,missense_variant,19.43,0.0000149912,EXAC_NFE_AF,COL4A4
468759,2:227945190:T>C,NM_000092.4:c.1772A>G,NP_000083.3:p.His591Arg,24/48,\N,Likely benign,\N,missense_variant,0.001,0.0000605987,EXAC_SAS_AF,COL4A4
468760,2:227945196:T>A,NM_000092.4:c.1766A>T,NP_000083.3:p.Asp589Val,24/48,\N,Unknown significance,\N,missense_variant,25.7,0.000268962,EVS_AA_AF,COL4A4
468761,2:227945199:C>T,NM_000092.4:c.1763G>A,NP_000083.3:p.Arg588Gln,24/48,\N,Likely benign,\N,missense_variant,0.309,0.000306373,EXAC_AFR_AF,COL4A4
468762,2:227945200:G>A,NM_000092.4:c.1762C>T,NP_000083.3:p.Arg588Trp,24/48,\N,Likely benign,\N,missense_variant,24.6,0.000116036,EXAC_EAS_AF,COL4A4
468763,2:227945202:C>T,NM_000092.4:c.1760G>A,NP_000083.3:p.Gly587Asp,24/48,\N,Unknown significance,\N,missense_variant,26.2,0.001,1KG_EUR_AF,COL4A4
468764,2:227945203:C>T,NM_000092.4:c.1759G>A,NP_000083.3:p.Gly587Ser,24/48,\N,Unknown significance,\N,missense_variant,26.5,0.00011609,EXAC_EAS_AF,COL4A4
468765,2:227945205:T>C,NM_000092.4:c.1757A>G,NP_000083.3:p.His586Arg,24/48,\N,Likely benign,\N,missense_variant,13.08,0.0000149934,EXAC_NFE_AF,COL4A4
468766,2:227945206:G>C,NM_000092.4:c.1756C>G,NP_000083.3:p.His586Asp,24/48,\N,Likely benign,\N,missense_variant,11.81,0.0000149934,EXAC_NFE_AF,COL4A4
468767,2:227945206:G>T,NM_000092.4:c.1756C>A,NP_000083.3:p.His586Asn,24/48,\N,Likely benign,\N,missense_variant,3.069,0.0000606134,EXAC_SAS_AF,COL4A4
468768,2:227945229:C>A,NM_000092.4:c.1733G>T,NP_000083.3:p.Gly578Val,24/48,\N,Pathogenic,Alport syndrome,missense_variant,33,\N,\N,COL4A4
468769,2:227945236:G>T,NM_000092.4:c.1726C>A,NP_000083.3:p.Pro576Thr,24/48,\N,Unknown significance,\N,missense_variant,23.7,0.0000606208,EXAC_SAS_AF,COL4A4
468770,2:227945243:A>G,NM_000092.4:c.1719T>C,NP_000083.3:p.Pro573=,24/48,\N,Unknown significance,\N,synonymous_variant,9.343,0.0041,1KG_SAS_AF,COL4A4
468771,2:227945245:GA>G,NM_000092.4:c.1716del,NP_000083.3:p.Pro573LeufsTer80,24/48,\N,Unknown significance,\N,frameshift_variant,29.9,0.0000150236,EXAC_NFE_AF,COL4A4
468772,2:227945251:T>C,NM_000092.4:c.1711A>G,NP_000083.3:p.Arg571Gly,24/48,\N,Unknown significance,\N,missense_variant,24.2,0.000122279,EVS_EA_AF,COL4A4
468773,2:227945258:T>G,NM_000092.4:c.1704A>C,NP_000083.3:p.Lys568Asn,24/48,\N,Unknown significance,\N,missense_variant,27.7,0.0000300842,EXAC_NFE_AF,COL4A4
468774,2:227945266:C>G,NM_000092.4:c.1697-1G>C,\N,\N,23/47,Pathogenic,Benign haematuria,splice_acceptor_variant,25.5,\N,\N,COL4A4
468775,2:227945276:A>G,NM_000092.4:c.1697-11T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,10.7,0.000015082,EXAC_NFE_AF,COL4A4
468776,2:227945279:T>C,NM_000092.4:c.1697-14A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,5.499,0.0000452721,EXAC_NFE_AF,COL4A4
468777,2:227945284:A>G,NM_000092.4:c.1697-19T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,1.29,0.0000150994,EXAC_NFE_AF,COL4A4
468778,2:227945290:T>C,NM_000092.4:c.1697-25A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,5.387,0.0000302206,EXAC_NFE_AF,COL4A4
468779,2:227945294:G>A,NM_000092.4:c.1697-29C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,5.526,0.0000607533,EXAC_SAS_AF,COL4A4
468780,2:227945301:T>G,NM_000092.4:c.1697-36A>C,\N,\N,23/47,Unknown significance,\N,intron_variant,3.173,\N,\N,COL4A4
468781,2:227945304:G>A,NM_000092.4:c.1697-39C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,2.279,0.0000151414,EXAC_NFE_AF,COL4A4
468782,2:227945313:A>G,NM_000092.4:c.1697-48T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,3.404,0.0014,1KG_AMR_AF,COL4A4
468783,2:227945395:G>A,NM_000092.4:c.1697-130C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,5.983,0.001,1KG_EUR_AF,COL4A4
468784,2:227945406:C>T,NM_000092.4:c.1697-141G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,6.089,\N,\N,COL4A4
468785,2:227945408:T>C,NM_000092.4:c.1697-143A>G,\N,\N,23/47,Benign,\N,intron_variant,6.864,0.0179,1KG_EUR_AF,COL4A4
468786,2:227945452:T>C,NM_000092.4:c.1697-187A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.791,\N,\N,COL4A4
468787,2:227945468:A>G,NM_000092.4:c.1697-203T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,6.324,\N,\N,COL4A4
468788,2:227945501:G>A,NM_000092.4:c.1697-236C>T,\N,\N,23/47,Benign,\N,intron_variant,1.025,0.0098,1KG_AFR_AF,COL4A4
468789,2:227945510:T>C,NM_000092.4:c.1697-245A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.589,\N,\N,COL4A4
468790,2:227945557:C>G,NM_000092.4:c.1697-292G>C,\N,\N,23/47,Unknown significance,\N,intron_variant,2.381,\N,\N,COL4A4
468791,2:227945569:A>G,NM_000092.4:c.1697-304T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,2.044,0.001,1KG_SAS_AF,COL4A4
468792,2:227945591:C>A,NM_000092.4:c.1697-326G>T,\N,\N,23/47,Unknown significance,\N,intron_variant,1.053,\N,\N,COL4A4
468793,2:227945591:C>T,NM_000092.4:c.1697-326G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,1.126,0.0008,1KG_AFR_AF,COL4A4
468794,2:227945593:G>A,NM_000092.4:c.1697-328C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,1.656,0.001,1KG_EUR_AF,COL4A4
468795,2:227945598:G>A,NM_000092.4:c.1697-333C>T,\N,\N,23/47,Benign,\N,intron_variant,2.714,0.0189,1KG_AFR_AF,COL4A4
468796,2:227945650:C>G,NM_000092.4:c.1697-385G>C,\N,\N,23/47,Unknown significance,\N,intron_variant,3.262,0.0008,1KG_AFR_AF,COL4A4
468797,2:227945665:T>C,NM_000092.4:c.1697-400A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,2.571,0.001,1KG_SAS_AF,COL4A4
468798,2:227945702:G>T,NM_000092.4:c.1697-437C>A,\N,\N,23/47,Unknown significance,\N,intron_variant,2.237,\N,\N,COL4A4
468799,2:227945727:G>C,NM_000092.4:c.1697-462C>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.301,\N,\N,COL4A4
468800,2:227945747:A>T,NM_000092.4:c.1697-482T>A,\N,\N,23/47,Unknown significance,\N,intron_variant,4.361,\N,\N,COL4A4
468801,2:227945764:C>T,NM_000092.4:c.1697-499G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,3.807,\N,\N,COL4A4
468802,2:227945770:G>T,NM_000092.4:c.1697-505C>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.875,0.001,1KG_EUR_AF,COL4A4
468803,2:227945775:T>C,NM_000092.4:c.1697-510A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,2.802,0.0008,1KG_AFR_AF,COL4A4
468804,2:227945879:T>G,NM_000092.4:c.1697-614A>C,\N,\N,23/47,Benign,\N,intron_variant,6.475,0.0053,1KG_AFR_AF,COL4A4
468805,2:227945884:G>A,NM_000092.4:c.1697-619C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,5.028,0.001,1KG_EUR_AF,COL4A4
468806,2:227945891:G>T,NM_000092.4:c.1697-626C>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.131,\N,\N,COL4A4
468807,2:227945949:C>T,NM_000092.4:c.1697-684G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.037,\N,\N,COL4A4
468808,2:227945950:G>A,NM_000092.4:c.1697-685C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,1.292,\N,\N,COL4A4
468809,2:227945975:G>C,NM_000092.4:c.1697-710C>G,\N,\N,23/47,Benign,\N,intron_variant,0.452,0.028,1KG_AFR_AF,COL4A4
468810,2:227945979:G>T,NM_000092.4:c.1697-714C>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.125,0.003,1KG_EAS_AF,COL4A4
468811,2:227946005:A>G,NM_000092.4:c.1697-740T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,8.755,0.0008,1KG_AFR_AF,COL4A4
468812,2:227946078:G>C,NM_000092.4:c.1696+753C>G,\N,\N,23/47,Unknown significance,\N,intron_variant,0.095,0.0014,1KG_AMR_AF,COL4A4
468813,2:227946080:G>A,NM_000092.4:c.1696+751C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,1.572,0.0008,1KG_AFR_AF,COL4A4
468814,2:227946089:T>C,NM_000092.4:c.1696+742A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.789,0.001,1KG_EAS_AF,COL4A4
468815,2:227946115:G>T,NM_000092.4:c.1696+716C>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.846,\N,\N,COL4A4
468816,2:227946122:C>T,NM_000092.4:c.1696+709G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.47,\N,\N,COL4A4
468817,2:227946139:A>G,NM_000092.4:c.1696+692T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,2.392,\N,\N,COL4A4
468818,2:227946162:G>C,NM_000092.4:c.1696+669C>G,\N,\N,23/47,Unknown significance,\N,intron_variant,0.429,0.001,1KG_EAS_AF,COL4A4
468819,2:227946193:C>T,NM_000092.4:c.1696+638G>A,\N,\N,23/47,Benign,\N,intron_variant,0.563,0.0378,1KG_SAS_AF,COL4A4
468820,2:227946218:G>A,NM_000092.4:c.1696+613C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,0.302,0.0014,1KG_AMR_AF,COL4A4
468821,2:227946309:G>A,NM_000092.4:c.1696+522C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,1.719,\N,\N,COL4A4
468822,2:227946310:T>C,NM_000092.4:c.1696+521A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.858,0.0008,1KG_AFR_AF,COL4A4
468823,2:227946339:A>G,NM_000092.4:c.1696+492T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,9.682,\N,\N,COL4A4
468824,2:227946365:T>C,NM_000092.4:c.1696+466A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,6.49,0.0023,1KG_AFR_AF,COL4A4
468825,2:227946367:T>C,NM_000092.4:c.1696+464A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,2.004,0.0008,1KG_AFR_AF,COL4A4
468826,2:227946368:A>C,NM_000092.4:c.1696+463T>G,\N,\N,23/47,Unknown significance,\N,intron_variant,3.055,\N,\N,COL4A4
468827,2:227946398:G>A,NM_000092.4:c.1696+433C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,0.576,\N,\N,COL4A4
468828,2:227946412:T>C,NM_000092.4:c.1696+419A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,0.836,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
468829,2:227946459:A>G,NM_000092.4:c.1696+372T>C,\N,\N,23/47,Unknown significance,\N,intron_variant,2.149,0.002,1KG_EUR_AF,COL4A4
468830,2:227946465:TA>T,NM_000092.4:c.1696+365del,\N,\N,23/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468831,2:227946473:C>T,NM_000092.4:c.1696+358G>A,\N,\N,23/47,Unknown significance,\N,intron_variant,0.522,0.0015,1KG_AFR_AF,COL4A4
468832,2:227946478:T>C,NM_000092.4:c.1696+353A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,2.68,0.003,1KG_AFR_AF,COL4A4
468833,2:227946514:A>G,NM_000092.4:c.1696+317T>C,\N,\N,23/47,Benign,\N,intron_variant,1.374,0.0051,1KG_SAS_AF,COL4A4
468834,2:227946616:T>C,NM_000092.4:c.1696+215A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,3.524,0.0008,1KG_AFR_AF,COL4A4
468835,2:227946617:G>A,NM_000092.4:c.1696+214C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,4.362,0.0014,1KG_AMR_AF,COL4A4
468836,2:227946674:T>C,NM_000092.4:c.1696+157A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.643,0.0008,1KG_AFR_AF,COL4A4
468837,2:227946754:A>AG,NM_000092.4:c.1696+76dup,\N,\N,23/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468838,2:227946776:GGGTC>G,NM_000092.4:c.1696+51_1696+54del,\N,\N,23/47,Unknown significance,\N,intron_variant,2.958,\N,\N,COL4A4
468839,2:227946777:G>A,NM_000092.4:c.1696+54C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,5.511,0.001,1KG_EAS_AF,COL4A4
468840,2:227946780:C>G,NM_000092.4:c.1696+51G>C,\N,\N,23/47,Unknown significance,\N,intron_variant,4.43,0.0008,1KG_AFR_AF,COL4A4
468841,2:227946790:T>A,NM_000092.4:c.1696+41A>T,\N,\N,23/47,Unknown significance,\N,intron_variant,4.581,0.000181686,EXAC_SAS_AF,COL4A4
468842,2:227946792:CA>C,NM_000092.4:c.1696+38del,\N,\N,23/47,Unknown significance,\N,intron_variant,3.537,0.00151194,EXAC_FIN_AF,COL4A4
468843,2:227946794:T>C,NM_000092.4:c.1696+37A>G,\N,\N,23/47,Unknown significance,\N,intron_variant,1.614,0.0000865202,EXAC_AMR_AF,COL4A4
468844,2:227946800:G>GAT,NM_000092.4:c.1696+30_1696+31insAT,\N,\N,23/47,Unknown significance,\N,intron_variant,1.338,\N,\N,COL4A4
468845,2:227946801:G>A,NM_000092.4:c.1696+30C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,2.315,0.0008,1KG_AFR_AF,COL4A4
468846,2:227946801:G>C,NM_000092.4:c.1696+30C>G,\N,\N,23/47,Unknown significance,\N,intron_variant,0.377,0.00010202,EXAC_AFR_AF,COL4A4
468847,2:227946802:C>A,NM_000092.4:c.1696+29G>T,\N,\N,23/47,Unknown significance,\N,intron_variant,4.447,0.000121124,EXAC_SAS_AF,COL4A4
468848,2:227946819:G>A,NM_000092.4:c.1696+12C>T,\N,\N,23/47,Unknown significance,\N,intron_variant,2.529,0.0000149849,EXAC_NFE_AF,COL4A4
468849,2:227946828:C>G,NM_000092.4:c.1696+3G>C,\N,\N,23/47,Unknown significance,\N,splice_region_variant&intron_variant,7.072,0.0000149849,EXAC_NFE_AF,COL4A4
468850,2:227946828:C>T,NM_000092.4:c.1696+3G>A,\N,\N,23/47,Unknown significance,\N,splice_region_variant&intron_variant,9.033,0.001,1KG_SAS_AF,COL4A4
468851,2:227946835:A>C,NM_000092.4:c.1692T>G,NP_000083.3:p.Val564=,23/48,\N,Unknown significance,\N,synonymous_variant,0.754,0.00010202,EXAC_AFR_AF,COL4A4
468852,2:227946846:C>T,NM_000092.4:c.1681G>A,NP_000083.3:p.Val561Ile,23/48,\N,Likely benign,\N,missense_variant,0.757,\N,\N,COL4A4
468853,2:227946855:C>T,NM_000092.4:c.1672G>A,NP_000083.3:p.Asp558Asn,23/48,\N,Likely benign,\N,missense_variant,24.8,0.000115929,EXAC_EAS_AF,COL4A4
468854,2:227946859:C>A,NM_000092.4:c.1668G>T,NP_000083.3:p.Lys556Asn,23/48,\N,Unknown significance,\N,missense_variant,24.5,0.0000149835,EXAC_NFE_AF,COL4A4
468855,2:227946861:T>C,NM_000092.4:c.1666A>G,NP_000083.3:p.Lys556Glu,23/48,\N,Unknown significance,\N,missense_variant,24.5,0.000115929,EXAC_EAS_AF,COL4A4
468856,2:227946862:C>T,NM_000092.4:c.1665G>A,NP_000083.3:p.Ala555=,23/48,\N,Unknown significance,\N,synonymous_variant,11.16,0.0008,1KG_AFR_AF,COL4A4
468857,2:227946863:G>A,NM_000092.4:c.1664C>T,NP_000083.3:p.Ala555Val,23/48,\N,Likely benign,\N,missense_variant,14.74,0.000231857,EXAC_EAS_AF,COL4A4
468858,2:227946878:G>A,NM_000092.4:c.1649C>T,NP_000083.3:p.Pro550Leu,23/48,\N,Unknown significance,\N,missense_variant,22,0.000014984,EXAC_NFE_AF,COL4A4
468859,2:227946882:G>T,NM_000092.4:c.1645C>A,NP_000083.3:p.Pro549Thr,23/48,\N,Likely benign,\N,missense_variant,0.543,0.000014984,EXAC_NFE_AF,COL4A4
468860,2:227946893:C>G,NM_000092.4:c.1634G>C,NP_000083.3:p.Gly545Ala,23/48,\N,Benign,\N,missense_variant,25.1,0.039288,EXAC_NFE_AF,COL4A4
468861,2:227946897:G>A,NM_000092.4:c.1630C>T,NP_000083.3:p.His544Tyr,23/48,\N,Likely benign,\N,missense_variant,14.8,0.000363372,EXAC_SAS_AF,COL4A4
468862,2:227946898:C>T,NM_000092.4:c.1629G>A,NP_000083.3:p.Lys543=,23/48,\N,Unknown significance,\N,synonymous_variant,7.598,0.0000149844,EXAC_NFE_AF,COL4A4
468863,2:227946901:TC>T,NM_000092.4:c.1625del,NP_000083.3:p.Gly542GlufsTer111,23/48,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,34,\N,\N,COL4A4
468864,2:227946914:A>T,NM_000092.4:c.1624-11T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.377,0.0000864454,EXAC_AMR_AF,COL4A4
468865,2:227946916:T>C,NM_000092.4:c.1624-13A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.38,0.001,1KG_EUR_AF,COL4A4
468866,2:227946921:G>C,NM_000092.4:c.1624-18C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.259,0.0000149853,EXAC_NFE_AF,COL4A4
468867,2:227946925:C>G,NM_000092.4:c.1624-22G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.79,0.0000605694,EXAC_SAS_AF,COL4A4
468868,2:227946930:T>C,NM_000092.4:c.1624-27A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.706,0.0000149867,EXAC_NFE_AF,COL4A4
468869,2:227946933:G>A,NM_000092.4:c.1624-30C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.886,0.000121448,EVS_EA_AF,COL4A4
468870,2:227946947:A>G,NM_000092.4:c.1624-44T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.519,0.000102041,EXAC_AFR_AF,COL4A4
468871,2:227946958:C>G,NM_000092.4:c.1624-55G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.206,0.000314268,EVS_EA_AF,COL4A4
468872,2:227946994:T>C,NM_000092.4:c.1624-91A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.293,\N,\N,COL4A4
468873,2:227947000:T>C,NM_000092.4:c.1624-97A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.191,0.0014,1KG_AMR_AF,COL4A4
468874,2:227947004:G>C,NM_000092.4:c.1624-101C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.543,\N,\N,COL4A4
468875,2:227947038:C>T,NM_000092.4:c.1624-135G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.556,\N,\N,COL4A4
468876,2:227947053:C>G,NM_000092.4:c.1624-150G>C,\N,\N,22/47,Benign,\N,intron_variant,2.203,0.3701,1KG_SAS_AF,COL4A4
468877,2:227947091:C>T,NM_000092.4:c.1624-188G>A,\N,\N,22/47,Benign,\N,intron_variant,4.51,0.084,1KG_AFR_AF,COL4A4
468878,2:227947094:C>A,NM_000092.4:c.1624-191G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.022,0.0029,1KG_AMR_AF,COL4A4
468879,2:227947174:G>T,NM_000092.4:c.1624-271C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.744,\N,\N,COL4A4
468880,2:227947210:A>C,NM_000092.4:c.1624-307T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.446,\N,\N,COL4A4
468881,2:227947270:C>T,NM_000092.4:c.1624-367G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,7.29,\N,\N,COL4A4
468882,2:227947271:G>A,NM_000092.4:c.1624-368C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.661,\N,\N,COL4A4
468883,2:227947275:T>G,NM_000092.4:c.1624-372A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,9.274,\N,\N,COL4A4
468884,2:227947308:C>T,NM_000092.4:c.1624-405G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.818,\N,\N,COL4A4
468885,2:227947379:G>C,NM_000092.4:c.1624-476C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.643,0.001,1KG_EAS_AF,COL4A4
468886,2:227947400:GTA>G,NM_000092.4:c.1624-499_1624-498del,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468887,2:227947446:C>T,NM_000092.4:c.1624-543G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.083,\N,\N,COL4A4
468888,2:227947457:G>A,NM_000092.4:c.1624-554C>T,\N,\N,22/47,Benign,\N,intron_variant,3.881,0.0144,1KG_AFR_AF,COL4A4
468889,2:227947492:C>A,NM_000092.4:c.1624-589G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.69,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
468890,2:227947505:T>G,NM_000092.4:c.1624-602A>C,\N,\N,22/47,Benign,\N,intron_variant,3.302,0.0677,1KG_AMR_AF,COL4A4
468891,2:227947517:T>C,NM_000092.4:c.1624-614A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.078,\N,\N,COL4A4
468892,2:227947525:A>G,NM_000092.4:c.1624-622T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.95,0.0014,1KG_AMR_AF,COL4A4
468893,2:227947530:T>C,NM_000092.4:c.1624-627A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.826,0.002,1KG_SAS_AF,COL4A4
468894,2:227947535:A>G,NM_000092.4:c.1624-632T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.919,0.001,1KG_EUR_AF,COL4A4
468895,2:227947560:G>A,NM_000092.4:c.1624-657C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.694,0.0008,1KG_AFR_AF,COL4A4
468896,2:227947566:T>C,NM_000092.4:c.1624-663A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.319,\N,\N,COL4A4
468897,2:227947595:A>AT,NM_000092.4:c.1624-693dup,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468898,2:227947608:T>C,NM_000092.4:c.1624-705A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.499,\N,\N,COL4A4
468899,2:227947615:G>C,NM_000092.4:c.1624-712C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.282,0.0029,1KG_AMR_AF,COL4A4
468900,2:227947622:A>G,NM_000092.4:c.1624-719T>C,\N,\N,22/47,Benign,\N,intron_variant,0.505,0.0068,1KG_AFR_AF,COL4A4
468901,2:227947630:G>C,NM_000092.4:c.1624-727C>G,\N,\N,22/47,Benign,\N,intron_variant,2.635,0.1964,1KG_EAS_AF,COL4A4
468902,2:227947640:C>A,NM_000092.4:c.1624-737G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,6.839,0.0023,1KG_AFR_AF,COL4A4
468903,2:227947655:G>A,NM_000092.4:c.1624-752C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.043,0.002,1KG_SAS_AF,COL4A4
468904,2:227947665:C>T,NM_000092.4:c.1624-762G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.126,0.0014,1KG_AMR_AF,COL4A4
468905,2:227947700:T>G,NM_000092.4:c.1624-797A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,4.05,0.0023,1KG_AFR_AF,COL4A4
468906,2:227947719:C>T,NM_000092.4:c.1624-816G>A,\N,\N,22/47,Benign,\N,intron_variant,0.218,0.007,1KG_EUR_AF,COL4A4
468907,2:227947773:C>T,NM_000092.4:c.1624-870G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.268,\N,\N,COL4A4
468908,2:227947783:A>G,NM_000092.4:c.1624-880T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,5.86,0.0014,1KG_AMR_AF,COL4A4
468909,2:227947787:A>G,NM_000092.4:c.1624-884T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,3.16,\N,\N,COL4A4
468910,2:227947791:A>G,NM_000092.4:c.1624-888T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.882,\N,\N,COL4A4
468911,2:227947803:G>T,NM_000092.4:c.1624-900C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.295,0.0008,1KG_AFR_AF,COL4A4
468912,2:227947842:G>A,NM_000092.4:c.1624-939C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.231,0.0045,1KG_AFR_AF,COL4A4
468913,2:227947859:C>T,NM_000092.4:c.1624-956G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.031,0.001,1KG_EUR_AF,COL4A4
468914,2:227947867:C>T,NM_000092.4:c.1624-964G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.798,\N,\N,COL4A4
468915,2:227947892:C>T,NM_000092.4:c.1624-989G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.369,0.0015,1KG_AFR_AF,COL4A4
468916,2:227947894:G>A,NM_000092.4:c.1624-991C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.846,0.002,1KG_EAS_AF,COL4A4
468917,2:227947899:C>G,NM_000092.4:c.1624-996G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.427,0.001,1KG_EUR_AF,COL4A4
468918,2:227947903:C>A,NM_000092.4:c.1624-1000G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.023,\N,\N,COL4A4
468919,2:227947908:G>A,NM_000092.4:c.1624-1005C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.242,\N,\N,COL4A4
468920,2:227947923:T>C,NM_000092.4:c.1624-1020A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.463,0.002,1KG_EAS_AF,COL4A4
468921,2:227947928:G>C,NM_000092.4:c.1624-1025C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.113,\N,\N,COL4A4
468922,2:227947936:C>T,NM_000092.4:c.1624-1033G>A,\N,\N,22/47,Benign,\N,intron_variant,2.626,0.0257,1KG_AFR_AF,COL4A4
468923,2:227947949:A>T,NM_000092.4:c.1624-1046T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.056,0.0015,1KG_AFR_AF,COL4A4
468924,2:227947953:T>C,NM_000092.4:c.1624-1050A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.729,\N,\N,COL4A4
468925,2:227948017:A>G,NM_000092.4:c.1624-1114T>C,\N,\N,22/47,Benign,\N,intron_variant,1.877,0.1377,1KG_AFR_AF,COL4A4
468926,2:227948023:T>C,NM_000092.4:c.1624-1120A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.352,0.0008,1KG_AFR_AF,COL4A4
468927,2:227948054:T>C,NM_000092.4:c.1624-1151A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.258,\N,\N,COL4A4
468928,2:227948062:A>G,NM_000092.4:c.1624-1159T>C,\N,\N,22/47,Benign,\N,intron_variant,3.919,0.4138,1KG_AFR_AF,COL4A4
468929,2:227948134:G>C,NM_000092.4:c.1624-1231C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.147,\N,\N,COL4A4
468930,2:227948143:A>T,NM_000092.4:c.1624-1240T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.104,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
468931,2:227948151:G>A,NM_000092.4:c.1624-1248C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.07,\N,\N,COL4A4
468932,2:227948161:T>C,NM_000092.4:c.1624-1258A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.078,0.0008,1KG_AFR_AF,COL4A4
468933,2:227948261:C>G,NM_000092.4:c.1624-1358G>C,\N,\N,22/47,Benign,\N,intron_variant,1.042,0.1369,1KG_AFR_AF,COL4A4
468934,2:227948306:G>A,NM_000092.4:c.1624-1403C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.871,0.0008,1KG_AFR_AF,COL4A4
468935,2:227948318:A>G,NM_000092.4:c.1624-1415T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.998,0.001,1KG_EAS_AF,COL4A4
468936,2:227948322:C>G,NM_000092.4:c.1624-1419G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.447,\N,\N,COL4A4
468937,2:227948322:C>T,NM_000092.4:c.1624-1419G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.136,\N,\N,COL4A4
468938,2:227948397:T>C,NM_000092.4:c.1624-1494A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,4.17,0.001,1KG_SAS_AF,COL4A4
468939,2:227948410:T>A,NM_000092.4:c.1624-1507A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,9.164,0.001,1KG_SAS_AF,COL4A4
468940,2:227948438:A>G,NM_000092.4:c.1624-1535T>C,\N,\N,22/47,Benign,\N,intron_variant,2.852,0.047,1KG_SAS_AF,COL4A4
468941,2:227948510:C>T,NM_000092.4:c.1624-1607G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.012,0.001,1KG_EAS_AF,COL4A4
468942,2:227948512:ATC>A,NM_000092.4:c.1624-1611_1624-1610del,\N,\N,22/47,Benign,\N,intron_variant,2.628,0.0197,1KG_AFR_AF,COL4A4
468943,2:227948525:C>T,NM_000092.4:c.1624-1622G>A,\N,\N,22/47,Benign,\N,intron_variant,2.426,0.8971,1KG_AFR_AF,COL4A4
468944,2:227948537:T>C,NM_000092.4:c.1624-1634A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.722,\N,\N,COL4A4
468945,2:227948565:G>C,NM_000092.4:c.1624-1662C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.157,\N,\N,COL4A4
468946,2:227948569:G>T,NM_000092.4:c.1624-1666C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.239,0.001,1KG_EUR_AF,COL4A4
468947,2:227948574:A>C,NM_000092.4:c.1624-1671T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.18,\N,\N,COL4A4
468948,2:227948575:G>A,NM_000092.4:c.1624-1672C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.027,\N,\N,COL4A4
468949,2:227948582:T>C,NM_000092.4:c.1624-1679A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.553,\N,\N,COL4A4
468950,2:227948601:A>G,NM_000092.4:c.1624-1698T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.274,0.001,1KG_SAS_AF,COL4A4
468951,2:227948618:A>G,NM_000092.4:c.1624-1715T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.899,0.0023,1KG_AFR_AF,COL4A4
468952,2:227948668:A>G,NM_000092.4:c.1624-1765T>C,\N,\N,22/47,Benign,\N,intron_variant,6.046,0.0218,1KG_EAS_AF,COL4A4
468953,2:227948704:A>G,NM_000092.4:c.1624-1801T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,4.296,\N,\N,COL4A4
468954,2:227948721:A>G,NM_000092.4:c.1624-1818T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.546,0.0008,1KG_AFR_AF,COL4A4
468955,2:227948726:A>T,NM_000092.4:c.1624-1823T>A,\N,\N,22/47,Benign,\N,intron_variant,0.166,0.1994,1KG_EAS_AF,COL4A4
468956,2:227948746:G>A,NM_000092.4:c.1624-1843C>T,\N,\N,22/47,Benign,\N,intron_variant,3.211,0.3875,1KG_SAS_AF,COL4A4
468957,2:227948746:G>C,NM_000092.4:c.1624-1843C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.751,\N,\N,COL4A4
468958,2:227948770:G>A,NM_000092.4:c.1624-1867C>T,\N,\N,22/47,Benign,\N,intron_variant,1.718,0.008,1KG_EUR_AF,COL4A4
468959,2:227948779:C>A,NM_000092.4:c.1624-1876G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.126,0.0014,1KG_AMR_AF,COL4A4
468960,2:227948780:C>A,NM_000092.4:c.1624-1877G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.225,\N,\N,COL4A4
468961,2:227948790:G>A,NM_000092.4:c.1624-1887C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.792,\N,\N,COL4A4
468962,2:227948794:G>A,NM_000092.4:c.1624-1891C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.557,0.0015,1KG_AFR_AF,COL4A4
468963,2:227948807:C>CT,NM_000092.4:c.1624-1905dup,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468964,2:227948808:T>A,NM_000092.4:c.1624-1905A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,10.09,\N,\N,COL4A4
468965,2:227948850:G>C,NM_000092.4:c.1624-1947C>G,\N,\N,22/47,Benign,\N,intron_variant,0.433,0.025,1KG_AFR_AF,COL4A4
468966,2:227948862:G>A,NM_000092.4:c.1624-1959C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.869,0.001,1KG_EUR_AF,COL4A4
468967,2:227948866:G>A,NM_000092.4:c.1624-1963C>T,\N,\N,22/47,Benign,\N,intron_variant,4.107,0.6401,1KG_SAS_AF,COL4A4
468968,2:227948902:G>T,NM_000092.4:c.1624-1999C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.344,0.0014,1KG_AMR_AF,COL4A4
468969,2:227948910:T>C,NM_000092.4:c.1624-2007A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,5.04,0.001,1KG_EUR_AF,COL4A4
468970,2:227948926:C>T,NM_000092.4:c.1624-2023G>A,\N,\N,22/47,Benign,\N,intron_variant,12.69,0.2133,1KG_AFR_AF,COL4A4
468971,2:227948962:T>C,NM_000092.4:c.1624-2059A>G,\N,\N,22/47,Benign,\N,intron_variant,2.884,0.0098,1KG_AFR_AF,COL4A4
468972,2:227948979:C>T,NM_000092.4:c.1624-2076G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.951,0.001,1KG_SAS_AF,COL4A4
468973,2:227948980:T>A,NM_000092.4:c.1624-2077A>T,\N,\N,22/47,Benign,\N,intron_variant,4.66,0.4018,1KG_SAS_AF,COL4A4
468974,2:227949010:C>A,NM_000092.4:c.1624-2107G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.48,\N,\N,COL4A4
468975,2:227949010:C>G,NM_000092.4:c.1624-2107G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.702,\N,\N,COL4A4
468976,2:227949013:T>C,NM_000092.4:c.1624-2110A>G,\N,\N,22/47,Benign,\N,intron_variant,2.102,0.0076,1KG_AFR_AF,COL4A4
468977,2:227949074:T>A,NM_000092.4:c.1624-2171A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.091,\N,\N,COL4A4
468978,2:227949083:G>T,NM_000092.4:c.1624-2180C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.507,0.0031,1KG_SAS_AF,COL4A4
468979,2:227949144:A>C,NM_000092.4:c.1624-2241T>G,\N,\N,22/47,Benign,\N,intron_variant,1.478,0.007,1KG_EUR_AF,COL4A4
468980,2:227949153:A>G,NM_000092.4:c.1624-2250T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.071,0.0008,1KG_AFR_AF,COL4A4
468981,2:227949162:G>A,NM_000092.4:c.1624-2259C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.476,\N,\N,COL4A4
468982,2:227949182:A>G,NM_000092.4:c.1624-2279T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,3.13,\N,\N,COL4A4
468983,2:227949188:C>T,NM_000092.4:c.1624-2285G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.414,\N,\N,COL4A4
468984,2:227949192:T>C,NM_000092.4:c.1624-2289A>G,\N,\N,22/47,Benign,\N,intron_variant,3.335,0.0219,1KG_AFR_AF,COL4A4
468985,2:227949267:AT>A,NM_000092.4:c.1624-2365del,\N,\N,22/47,Benign,\N,intron_variant,0.23,0.4265,1KG_AMR_AF,COL4A4
468986,2:227949268:T>A,NM_000092.4:c.1624-2365A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.339,\N,\N,COL4A4
468987,2:227949289:C>T,NM_000092.4:c.1624-2386G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.209,0.0008,1KG_AFR_AF,COL4A4
468988,2:227949372:C>T,NM_000092.4:c.1624-2469G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.83,\N,\N,COL4A4
468989,2:227949390:C>A,NM_000092.4:c.1624-2487G>T,\N,\N,22/47,Benign,\N,intron_variant,1.675,0.0567,1KG_AFR_AF,COL4A4
468990,2:227949428:A>T,NM_000092.4:c.1624-2525T>A,\N,\N,22/47,Benign,\N,intron_variant,0.778,0.0068,1KG_AFR_AF,COL4A4
468991,2:227949435:C>T,NM_000092.4:c.1624-2532G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.675,0.0023,1KG_AFR_AF,COL4A4
468992,2:227949436:G>A,NM_000092.4:c.1624-2533C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.982,\N,\N,COL4A4
468993,2:227949447:C>CAA,NM_000092.4:c.1624-2546_1624-2545dup,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
468994,2:227949452:G>A,NM_000092.4:c.1624-2549C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.224,\N,\N,COL4A4
468995,2:227949452:G>T,NM_000092.4:c.1624-2549C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.469,0.0014,1KG_AMR_AF,COL4A4
468996,2:227949455:C>T,NM_000092.4:c.1624-2552G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,5.512,\N,\N,COL4A4
468997,2:227949470:C>G,NM_000092.4:c.1624-2567G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.005,\N,\N,COL4A4
468998,2:227949488:A>G,NM_000092.4:c.1624-2585T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.619,\N,\N,COL4A4
468999,2:227949494:A>G,NM_000092.4:c.1624-2591T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.602,0.0008,1KG_AFR_AF,COL4A4
469000,2:227949519:T>C,NM_000092.4:c.1624-2616A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.275,\N,\N,COL4A4
469001,2:227949549:AC>A,NM_000092.4:c.1624-2647del,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469002,2:227949565:G>A,NM_000092.4:c.1624-2662C>T,\N,\N,22/47,Benign,\N,intron_variant,1.527,0.0089,1KG_EAS_AF,COL4A4
469003,2:227949575:C>T,NM_000092.4:c.1624-2672G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.28,\N,\N,COL4A4
469004,2:227949595:C>T,NM_000092.4:c.1624-2692G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.233,0.001,1KG_EUR_AF,COL4A4
469005,2:227949596:C>G,NM_000092.4:c.1624-2693G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.809,0.001,1KG_EAS_AF,COL4A4
469006,2:227949621:G>A,NM_000092.4:c.1624-2718C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.727,0.001,1KG_SAS_AF,COL4A4
469007,2:227949629:C>A,NM_000092.4:c.1624-2726G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.749,0.0014,1KG_AMR_AF,COL4A4
469008,2:227949655:C>T,NM_000092.4:c.1624-2752G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,13.3,0.0008,1KG_AFR_AF,COL4A4
469009,2:227949657:G>A,NM_000092.4:c.1624-2754C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,13.63,0.001,1KG_SAS_AF,COL4A4
469010,2:227949719:T>C,NM_000092.4:c.1624-2816A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.447,\N,\N,COL4A4
469011,2:227949729:C>T,NM_000092.4:c.1624-2826G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.292,0.0008,1KG_AFR_AF,COL4A4
469012,2:227949737:C>T,NM_000092.4:c.1624-2834G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.388,\N,\N,COL4A4
469013,2:227949739:CGA>C,NM_000092.4:c.1624-2838_1624-2837del,\N,\N,22/47,Benign,\N,intron_variant,1.012,0.1331,1KG_AFR_AF,COL4A4
469014,2:227949762:G>A,NM_000092.4:c.1624-2859C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.383,\N,\N,COL4A4
469015,2:227949765:T>C,NM_000092.4:c.1624-2862A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.544,\N,\N,COL4A4
469016,2:227949769:C>G,NM_000092.4:c.1624-2866G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.418,0.0023,1KG_AFR_AF,COL4A4
469017,2:227949772:G>A,NM_000092.4:c.1624-2869C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.027,\N,\N,COL4A4
469018,2:227949776:G>C,NM_000092.4:c.1624-2873C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.397,\N,\N,COL4A4
469019,2:227949788:G>C,NM_000092.4:c.1624-2885C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.041,\N,\N,COL4A4
469020,2:227949803:C>T,NM_000092.4:c.1624-2900G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.62,0.001,1KG_SAS_AF,COL4A4
469021,2:227949826:G>A,NM_000092.4:c.1624-2923C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.309,0.001,1KG_SAS_AF,COL4A4
469022,2:227949845:C>CA,NM_000092.4:c.1624-2943dup,\N,\N,22/47,Benign,\N,intron_variant,0.902,0.5951,1KG_SAS_AF,COL4A4
469023,2:227949868:C>T,NM_000092.4:c.1624-2965G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.102,0.002,1KG_SAS_AF,COL4A4
469024,2:227949872:AC>A,NM_000092.4:c.1624-2970del,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469025,2:227949873:C>A,NM_000092.4:c.1624-2970G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.5,\N,\N,COL4A4
469026,2:227949873:C>CA,NM_000092.4:c.1624-2971dup,\N,\N,22/47,Unknown significance,\N,intron_variant,4.841,\N,\N,COL4A4
469027,2:227949873:CA>C,NM_000092.4:c.1624-2971del,\N,\N,22/47,Benign,\N,intron_variant,8.228,0.5951,1KG_SAS_AF,COL4A4
469028,2:227949881:A>T,NM_000092.4:c.1624-2978T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.686,0.0014,1KG_AMR_AF,COL4A4
469029,2:227949882:C>A,NM_000092.4:c.1624-2979G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,6.1,\N,\N,COL4A4
469030,2:227949909:G>C,NM_000092.4:c.1624-3006C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.115,\N,\N,COL4A4
469031,2:227949932:A>G,NM_000092.4:c.1624-3029T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.639,\N,\N,COL4A4
469032,2:227949938:T>C,NM_000092.4:c.1624-3035A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.891,\N,\N,COL4A4
469033,2:227949939:G>T,NM_000092.4:c.1624-3036C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.147,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
469034,2:227949960:G>A,NM_000092.4:c.1624-3057C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.408,0.0031,1KG_SAS_AF,COL4A4
469035,2:227949976:G>A,NM_000092.4:c.1624-3073C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.32,0.0008,1KG_AFR_AF,COL4A4
469036,2:227950021:C>T,NM_000092.4:c.1624-3118G>A,\N,\N,22/47,Benign,\N,intron_variant,2.964,0.428,1KG_AMR_AF,COL4A4
469037,2:227950033:C>T,NM_000092.4:c.1624-3130G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.147,\N,\N,COL4A4
469038,2:227950043:T>G,NM_000092.4:c.1624-3140A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.94,\N,\N,COL4A4
469039,2:227950055:A>G,NM_000092.4:c.1624-3152T>C,\N,\N,22/47,Benign,\N,intron_variant,2.993,0.0053,1KG_AFR_AF,COL4A4
469040,2:227950080:T>C,NM_000092.4:c.1624-3177A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,7.607,0.0014,1KG_AMR_AF,COL4A4
469041,2:227950201:C>T,NM_000092.4:c.1623+3168G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.101,\N,\N,COL4A4
469042,2:227950202:G>A,NM_000092.4:c.1623+3167C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.39,\N,\N,COL4A4
469043,2:227950224:G>A,NM_000092.4:c.1623+3145C>T,\N,\N,22/47,Benign,\N,intron_variant,2.43,0.025,1KG_AFR_AF,COL4A4
469044,2:227950243:G>A,NM_000092.4:c.1623+3126C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,7.838,\N,\N,COL4A4
469045,2:227950263:T>A,NM_000092.4:c.1623+3106A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,10.79,0.0014,1KG_AMR_AF,COL4A4
469046,2:227950282:G>A,NM_000092.4:c.1623+3087C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,9.364,0.001,1KG_EAS_AF,COL4A4
469047,2:227950293:G>A,NM_000092.4:c.1623+3076C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,10.3,\N,\N,COL4A4
469048,2:227950298:C>A,NM_000092.4:c.1623+3071G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,10.19,\N,\N,COL4A4
469049,2:227950300:A>T,NM_000092.4:c.1623+3069T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,9.815,\N,\N,COL4A4
469050,2:227950307:C>T,NM_000092.4:c.1623+3062G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,7.776,0.001,1KG_SAS_AF,COL4A4
469051,2:227950308:G>A,NM_000092.4:c.1623+3061C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.28,\N,\N,COL4A4
469052,2:227950351:G>C,NM_000092.4:c.1623+3018C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.017,0.001,1KG_EAS_AF,COL4A4
469053,2:227950361:G>A,NM_000092.4:c.1623+3008C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.552,0.0014,1KG_AMR_AF,COL4A4
469054,2:227950377:C>T,NM_000092.4:c.1623+2992G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.156,0.0023,1KG_AFR_AF,COL4A4
469055,2:227950391:C>A,NM_000092.4:c.1623+2978G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.209,\N,\N,COL4A4
469056,2:227950408:A>C,NM_000092.4:c.1623+2961T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,6.512,0.0008,1KG_AFR_AF,COL4A4
469057,2:227950450:G>A,NM_000092.4:c.1623+2919C>T,\N,\N,22/47,Benign,\N,intron_variant,0.456,0.0328,1KG_EUR_AF,COL4A4
469058,2:227950453:G>A,NM_000092.4:c.1623+2916C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.118,\N,\N,COL4A4
469059,2:227950466:T>G,NM_000092.4:c.1623+2903A>C,\N,\N,22/47,Benign,\N,intron_variant,3.103,0.0121,1KG_AFR_AF,COL4A4
469060,2:227950468:G>A,NM_000092.4:c.1623+2901C>T,\N,\N,22/47,Benign,\N,intron_variant,0.12,0.5419,1KG_SAS_AF,COL4A4
469061,2:227950490:C>A,NM_000092.4:c.1623+2879G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.191,0.001,1KG_SAS_AF,COL4A4
469062,2:227950490:C>T,NM_000092.4:c.1623+2879G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.123,\N,\N,COL4A4
469063,2:227950571:C>T,NM_000092.4:c.1623+2798G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.315,0.002,1KG_SAS_AF,COL4A4
469064,2:227950595:G>A,NM_000092.4:c.1623+2774C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.134,0.001,1KG_EUR_AF,COL4A4
469065,2:227950602:G>A,NM_000092.4:c.1623+2767C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.267,\N,\N,COL4A4
469066,2:227950675:A>G,NM_000092.4:c.1623+2694T>C,\N,\N,22/47,Benign,\N,intron_variant,3.981,0.0076,1KG_AFR_AF,COL4A4
469067,2:227950676:T>C,NM_000092.4:c.1623+2693A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.366,\N,\N,COL4A4
469068,2:227950703:A>G,NM_000092.4:c.1623+2666T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.563,0.0038,1KG_AFR_AF,COL4A4
469069,2:227950740:A>G,NM_000092.4:c.1623+2629T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.913,0.0008,1KG_AFR_AF,COL4A4
469070,2:227950770:G>A,NM_000092.4:c.1623+2599C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.105,0.001,1KG_EUR_AF,COL4A4
469071,2:227950772:C>T,NM_000092.4:c.1623+2597G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.029,0.0008,1KG_AFR_AF,COL4A4
469072,2:227950773:G>A,NM_000092.4:c.1623+2596C>T,\N,\N,22/47,Benign,\N,intron_variant,1.931,0.0779,1KG_AFR_AF,COL4A4
469073,2:227950774:G>A,NM_000092.4:c.1623+2595C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.285,\N,\N,COL4A4
469074,2:227950797:A>G,NM_000092.4:c.1623+2572T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,8.614,\N,\N,COL4A4
469075,2:227950840:C>T,NM_000092.4:c.1623+2529G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.14,0.0008,1KG_AFR_AF,COL4A4
469076,2:227950841:G>A,NM_000092.4:c.1623+2528C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.999,0.0023,1KG_AFR_AF,COL4A4
469077,2:227950856:G>A,NM_000092.4:c.1623+2513C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.422,\N,\N,COL4A4
469078,2:227950865:G>A,NM_000092.4:c.1623+2504C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.741,0.001,1KG_EAS_AF,COL4A4
469079,2:227950876:G>A,NM_000092.4:c.1623+2493C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.195,\N,\N,COL4A4
469080,2:227950878:A>G,NM_000092.4:c.1623+2491T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.803,\N,\N,COL4A4
469081,2:227950884:T>C,NM_000092.4:c.1623+2485A>G,\N,\N,22/47,Benign,\N,intron_variant,4.003,0.0734,1KG_AFR_AF,COL4A4
469082,2:227950890:G>C,NM_000092.4:c.1623+2479C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.42,0.001,1KG_EUR_AF,COL4A4
469083,2:227950964:G>T,NM_000092.4:c.1623+2405C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,7.218,0.001,1KG_SAS_AF,COL4A4
469084,2:227950972:T>C,NM_000092.4:c.1623+2397A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,6.762,\N,\N,COL4A4
469085,2:227950975:G>A,NM_000092.4:c.1623+2394C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,7.513,0.001,1KG_EUR_AF,COL4A4
469086,2:227951041:G>A,NM_000092.4:c.1623+2328C>T,\N,\N,22/47,Benign,\N,intron_variant,0.455,0.0522,1KG_AFR_AF,COL4A4
469087,2:227951055:G>C,NM_000092.4:c.1623+2314C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.032,\N,\N,COL4A4
469088,2:227951063:C>T,NM_000092.4:c.1623+2306G>A,\N,\N,22/47,Benign,\N,intron_variant,0.72,0.91,1KG_AFR_AF,COL4A4
469089,2:227951064:G>A,NM_000092.4:c.1623+2305C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.053,0.003,1KG_EAS_AF,COL4A4
469090,2:227951070:C>A,NM_000092.4:c.1623+2299G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.525,0.003,1KG_AFR_AF,COL4A4
469091,2:227951096:C>A,NM_000092.4:c.1623+2273G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.657,0.0031,1KG_SAS_AF,COL4A4
469092,2:227951107:T>G,NM_000092.4:c.1623+2262A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.542,\N,\N,COL4A4
469093,2:227951119:C>T,NM_000092.4:c.1623+2250G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.269,\N,\N,COL4A4
469094,2:227951125:C>A,NM_000092.4:c.1623+2244G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.584,0.001,1KG_SAS_AF,COL4A4
469095,2:227951147:T>A,NM_000092.4:c.1623+2222A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.046,\N,\N,COL4A4
469096,2:227951159:C>G,NM_000092.4:c.1623+2210G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.49,\N,\N,COL4A4
469097,2:227951224:T>C,NM_000092.4:c.1623+2145A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,4.965,0.0023,1KG_AFR_AF,COL4A4
469098,2:227951253:A>G,NM_000092.4:c.1623+2116T>C,\N,\N,22/47,Benign,\N,intron_variant,0.061,0.1964,1KG_EAS_AF,COL4A4
469099,2:227951280:A>G,NM_000092.4:c.1623+2089T>C,\N,\N,22/47,Benign,\N,intron_variant,4.016,0.0086,1KG_AMR_AF,COL4A4
469100,2:227951295:T>G,NM_000092.4:c.1623+2074A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.017,0.001,1KG_EUR_AF,COL4A4
469101,2:227951300:A>G,NM_000092.4:c.1623+2069T>C,\N,\N,22/47,Benign,\N,intron_variant,5.243,0.0507,1KG_EUR_AF,COL4A4
469102,2:227951302:A>C,NM_000092.4:c.1623+2067T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.441,0.001,1KG_SAS_AF,COL4A4
469103,2:227951306:G>A,NM_000092.4:c.1623+2063C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.623,\N,\N,COL4A4
469104,2:227951313:T>A,NM_000092.4:c.1623+2056A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.721,0.004,1KG_EAS_AF,COL4A4
469105,2:227951317:C>T,NM_000092.4:c.1623+2052G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.561,0.0008,1KG_AFR_AF,COL4A4
469106,2:227951327:C>T,NM_000092.4:c.1623+2042G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.899,0.001,1KG_SAS_AF,COL4A4
469107,2:227951399:T>A,NM_000092.4:c.1623+1970A>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.977,\N,\N,COL4A4
469108,2:227951425:G>A,NM_000092.4:c.1623+1944C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.923,\N,\N,COL4A4
469109,2:227951451:G>GC,NM_000092.4:c.1623+1917_1623+1918insG,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469110,2:227951456:C>T,NM_000092.4:c.1623+1913G>A,\N,\N,22/47,Benign,\N,intron_variant,5.592,0.0072,1KG_SAS_AF,COL4A4
469111,2:227951457:G>A,NM_000092.4:c.1623+1912C>T,\N,\N,22/47,Benign,\N,intron_variant,2.712,0.0106,1KG_AFR_AF,COL4A4
469112,2:227951493:G>A,NM_000092.4:c.1623+1876C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.008,0.001,1KG_SAS_AF,COL4A4
469113,2:227951505:C>A,NM_000092.4:c.1623+1864G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.393,0.0038,1KG_AFR_AF,COL4A4
469114,2:227951512:A>G,NM_000092.4:c.1623+1857T>C,\N,\N,22/47,Benign,\N,intron_variant,4.3,0.1422,1KG_AFR_AF,COL4A4
469115,2:227951527:T>C,NM_000092.4:c.1623+1842A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.04,\N,\N,COL4A4
469116,2:227951530:T>G,NM_000092.4:c.1623+1839A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.689,0.0014,1KG_AMR_AF,COL4A4
469117,2:227951543:G>A,NM_000092.4:c.1623+1826C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.107,0.0023,1KG_AFR_AF,COL4A4
469118,2:227951552:T>C,NM_000092.4:c.1623+1817A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,3.773,\N,\N,COL4A4
469119,2:227951577:A>G,NM_000092.4:c.1623+1792T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,3.654,0.0043,1KG_AMR_AF,COL4A4
469120,2:227951582:C>T,NM_000092.4:c.1623+1787G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.786,\N,\N,COL4A4
469121,2:227951592:G>C,NM_000092.4:c.1623+1777C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.727,\N,\N,COL4A4
469122,2:227951650:A>C,NM_000092.4:c.1623+1719T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.229,0.0008,1KG_AFR_AF,COL4A4
469123,2:227951662:C>T,NM_000092.4:c.1623+1707G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,2.827,0.0038,1KG_AFR_AF,COL4A4
469124,2:227951668:T>G,NM_000092.4:c.1623+1701A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.984,\N,\N,COL4A4
469125,2:227951698:G>T,NM_000092.4:c.1623+1671C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.602,\N,\N,COL4A4
469126,2:227951724:G>A,NM_000092.4:c.1623+1645C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.919,0.001,1KG_EAS_AF,COL4A4
469127,2:227951725:G>A,NM_000092.4:c.1623+1644C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.623,\N,\N,COL4A4
469128,2:227951739:A>T,NM_000092.4:c.1623+1630T>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.056,\N,\N,COL4A4
469129,2:227951756:T>C,NM_000092.4:c.1623+1613A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.155,0.001,1KG_EAS_AF,COL4A4
469130,2:227951771:C>A,NM_000092.4:c.1623+1598G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.487,0.002,1KG_EAS_AF,COL4A4
469131,2:227951807:C>G,NM_000092.4:c.1623+1562G>C,\N,\N,22/47,Benign,\N,intron_variant,7.458,0.0106,1KG_AFR_AF,COL4A4
469132,2:227951811:G>A,NM_000092.4:c.1623+1558C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,4.5,0.003,1KG_EAS_AF,COL4A4
469133,2:227951819:T>G,NM_000092.4:c.1623+1550A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.594,\N,\N,COL4A4
469134,2:227951820:C>G,NM_000092.4:c.1623+1549G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.169,0.0014,1KG_AMR_AF,COL4A4
469135,2:227951853:C>T,NM_000092.4:c.1623+1516G>A,\N,\N,22/47,Benign,\N,intron_variant,1.406,0.1346,1KG_AFR_AF,COL4A4
469136,2:227951928:A>G,NM_000092.4:c.1623+1441T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,7.563,0.002,1KG_EAS_AF,COL4A4
469137,2:227951936:G>A,NM_000092.4:c.1623+1433C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.758,0.0014,1KG_AMR_AF,COL4A4
469138,2:227951949:T>C,NM_000092.4:c.1623+1420A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.793,\N,\N,COL4A4
469139,2:227951972:G>A,NM_000092.4:c.1623+1397C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.4,0.0008,1KG_AFR_AF,COL4A4
469140,2:227951977:C>G,NM_000092.4:c.1623+1392G>C,\N,\N,22/47,Benign,\N,intron_variant,2.727,0.0076,1KG_AFR_AF,COL4A4
469141,2:227951991:G>T,NM_000092.4:c.1623+1378C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.404,0.0008,1KG_AFR_AF,COL4A4
469142,2:227952009:C>T,NM_000092.4:c.1623+1360G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.074,0.0029,1KG_AMR_AF,COL4A4
469143,2:227952030:T>C,NM_000092.4:c.1623+1339A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,10.72,0.0023,1KG_AFR_AF,COL4A4
469144,2:227952095:C>A,NM_000092.4:c.1623+1274G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.807,0.001,1KG_SAS_AF,COL4A4
469145,2:227952104:T>C,NM_000092.4:c.1623+1265A>G,\N,\N,22/47,Benign,\N,intron_variant,1.481,0.0265,1KG_AFR_AF,COL4A4
469146,2:227952111:C>T,NM_000092.4:c.1623+1258G>A,\N,\N,22/47,Benign,\N,intron_variant,0.495,0.0825,1KG_AFR_AF,COL4A4
469147,2:227952123:C>T,NM_000092.4:c.1623+1246G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.641,\N,\N,COL4A4
469148,2:227952153:C>T,NM_000092.4:c.1623+1216G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,3.17,\N,\N,COL4A4
469149,2:227952154:G>A,NM_000092.4:c.1623+1215C>T,\N,\N,22/47,Benign,\N,intron_variant,6.302,0.4308,1KG_AMR_AF,COL4A4
469150,2:227952181:G>A,NM_000092.4:c.1623+1188C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,7.15,\N,\N,COL4A4
469151,2:227952245:C>T,NM_000092.4:c.1623+1124G>A,\N,\N,22/47,Benign,\N,intron_variant,8.6,0.0605,1KG_AFR_AF,COL4A4
469152,2:227952282:C>A,NM_000092.4:c.1623+1087G>T,\N,\N,22/47,Unknown significance,\N,intron_variant,10.34,\N,\N,COL4A4
469153,2:227952294:T>C,NM_000092.4:c.1623+1075A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,14.15,0.0038,1KG_AFR_AF,COL4A4
469154,2:227952320:A>G,NM_000092.4:c.1623+1049T>C,\N,\N,22/47,Benign,\N,intron_variant,4.542,0.0098,1KG_AFR_AF,COL4A4
469155,2:227952323:C>T,NM_000092.4:c.1623+1046G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.3,\N,\N,COL4A4
469156,2:227952325:GCAC>G,NM_000092.4:c.1623+1041_1623+1043del,\N,\N,22/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469157,2:227952329:C>T,NM_000092.4:c.1623+1040G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,1.523,0.001,1KG_SAS_AF,COL4A4
469158,2:227952418:G>A,NM_000092.4:c.1623+951C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.643,0.002,1KG_EAS_AF,COL4A4
469159,2:227952427:T>G,NM_000092.4:c.1623+942A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,3.64,\N,\N,COL4A4
469160,2:227952578:G>T,NM_000092.4:c.1623+791C>A,\N,\N,22/47,Benign,\N,intron_variant,1.747,0.0567,1KG_AFR_AF,COL4A4
469161,2:227952642:G>C,NM_000092.4:c.1623+727C>G,\N,\N,22/47,Benign,\N,intron_variant,0.293,0.0477,1KG_EUR_AF,COL4A4
469162,2:227952644:G>T,NM_000092.4:c.1623+725C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.844,0.0008,1KG_AFR_AF,COL4A4
469163,2:227952649:C>T,NM_000092.4:c.1623+720G>A,\N,\N,22/47,Benign,\N,intron_variant,1.645,0.006,1KG_EUR_AF,COL4A4
469164,2:227952660:AC>A,NM_000092.4:c.1623+708del,\N,\N,22/47,Benign,\N,intron_variant,1.426,0.0194,1KG_SAS_AF,COL4A4
469165,2:227952702:C>T,NM_000092.4:c.1623+667G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,5.992,\N,\N,COL4A4
469166,2:227952704:G>A,NM_000092.4:c.1623+665C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.824,\N,\N,COL4A4
469167,2:227952725:G>A,NM_000092.4:c.1623+644C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,5.414,0.002,1KG_EAS_AF,COL4A4
469168,2:227952734:G>C,NM_000092.4:c.1623+635C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.343,0.002,1KG_EAS_AF,COL4A4
469169,2:227952736:C>G,NM_000092.4:c.1623+633G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.755,\N,\N,COL4A4
469170,2:227952770:G>A,NM_000092.4:c.1623+599C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,8.513,\N,\N,COL4A4
469171,2:227952787:A>G,NM_000092.4:c.1623+582T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,0.778,\N,\N,COL4A4
469172,2:227952799:T>C,NM_000092.4:c.1623+570A>G,\N,\N,22/47,Benign,\N,intron_variant,1.414,0.2179,1KG_AFR_AF,COL4A4
469173,2:227952810:A>G,NM_000092.4:c.1623+559T>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.079,\N,\N,COL4A4
469174,2:227952814:G>A,NM_000092.4:c.1623+555C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.93,0.002,1KG_EUR_AF,COL4A4
469175,2:227952817:G>A,NM_000092.4:c.1623+552C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,3.31,\N,\N,COL4A4
469176,2:227952828:C>T,NM_000092.4:c.1623+541G>A,\N,\N,22/47,Benign,\N,intron_variant,0.195,0.0069,1KG_EAS_AF,COL4A4
469177,2:227952833:G>T,NM_000092.4:c.1623+536C>A,\N,\N,22/47,Benign,\N,intron_variant,0.448,0.1974,1KG_EAS_AF,COL4A4
469178,2:227952853:A>C,NM_000092.4:c.1623+516T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.007,\N,\N,COL4A4
469179,2:227952878:A>C,NM_000092.4:c.1623+491T>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.577,\N,\N,COL4A4
469180,2:227952880:G>A,NM_000092.4:c.1623+489C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.156,\N,\N,COL4A4
469181,2:227952917:T>C,NM_000092.4:c.1623+452A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.922,0.0014,1KG_AMR_AF,COL4A4
469182,2:227952937:C>T,NM_000092.4:c.1623+432G>A,\N,\N,22/47,Benign,\N,intron_variant,0.185,0.0106,1KG_AFR_AF,COL4A4
469183,2:227952938:G>C,NM_000092.4:c.1623+431C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.145,0.001,1KG_EAS_AF,COL4A4
469184,2:227952952:C>T,NM_000092.4:c.1623+417G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.796,0.001,1KG_EUR_AF,COL4A4
469185,2:227952953:G>A,NM_000092.4:c.1623+416C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.066,\N,\N,COL4A4
469186,2:227952999:G>A,NM_000092.4:c.1623+370C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.758,0.0014,1KG_AMR_AF,COL4A4
469187,2:227953010:G>A,NM_000092.4:c.1623+359C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.434,0.002,1KG_SAS_AF,COL4A4
469188,2:227953024:G>A,NM_000092.4:c.1623+345C>T,\N,\N,22/47,Benign,\N,intron_variant,0.617,0.0219,1KG_AFR_AF,COL4A4
469189,2:227953033:G>A,NM_000092.4:c.1623+336C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,2.144,\N,\N,COL4A4
469190,2:227953033:G>C,NM_000092.4:c.1623+336C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.38,\N,\N,COL4A4
469191,2:227953065:G>C,NM_000092.4:c.1623+304C>G,\N,\N,22/47,Unknown significance,\N,intron_variant,7.959,0.003,1KG_EAS_AF,COL4A4
469192,2:227953096:G>T,NM_000092.4:c.1623+273C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,9.201,\N,\N,COL4A4
469193,2:227953141:C>T,NM_000092.4:c.1623+228G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.141,0.002,1KG_EUR_AF,COL4A4
469194,2:227953169:T>C,NM_000092.4:c.1623+200A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.448,\N,\N,COL4A4
469195,2:227953171:G>A,NM_000092.4:c.1623+198C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.058,0.001,1KG_SAS_AF,COL4A4
469196,2:227953184:C>T,NM_000092.4:c.1623+185G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,5.75,0.002,1KG_EAS_AF,COL4A4
469197,2:227953185:G>A,NM_000092.4:c.1623+184C>T,\N,\N,22/47,Benign,\N,intron_variant,1.893,0.0189,1KG_EUR_AF,COL4A4
469198,2:227953205:T>C,NM_000092.4:c.1623+164A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,5.971,0.0008,1KG_AFR_AF,COL4A4
469199,2:227953222:C>T,NM_000092.4:c.1623+147G>A,\N,\N,22/47,Unknown significance,\N,intron_variant,4.928,0.0014,1KG_AMR_AF,COL4A4
469200,2:227953256:A>G,NM_000092.4:c.1623+113T>C,\N,\N,22/47,Benign,\N,intron_variant,1.625,0.0098,1KG_AFR_AF,COL4A4
469201,2:227953281:G>A,NM_000092.4:c.1623+88C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,1.639,\N,\N,COL4A4
469202,2:227953285:T>C,NM_000092.4:c.1623+84A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,0.324,0.002,1KG_EAS_AF,COL4A4
469203,2:227953286:G>T,NM_000092.4:c.1623+83C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.143,0.0023,1KG_AFR_AF,COL4A4
469204,2:227953287:G>T,NM_000092.4:c.1623+82C>A,\N,\N,22/47,Unknown significance,\N,intron_variant,0.031,\N,\N,COL4A4
469205,2:227953296:T>G,NM_000092.4:c.1623+73A>C,\N,\N,22/47,Unknown significance,\N,intron_variant,1.801,\N,\N,COL4A4
469206,2:227953309:G>A,NM_000092.4:c.1623+60C>T,\N,\N,22/47,Unknown significance,\N,intron_variant,0.118,\N,\N,COL4A4
469207,2:227953332:C>G,NM_000092.4:c.1623+37G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,5.244,0.0000150119,EXAC_NFE_AF,COL4A4
469208,2:227953336:T>C,NM_000092.4:c.1623+33A>G,\N,\N,22/47,Benign,\N,intron_variant,6.495,0.0522,1KG_AFR_AF,COL4A4
469209,2:227953348:T>C,NM_000092.4:c.1623+21A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,1.766,\N,\N,COL4A4
469210,2:227953351:C>G,NM_000092.4:c.1623+18G>C,\N,\N,22/47,Unknown significance,\N,intron_variant,2.615,0.00011609,EXAC_EAS_AF,COL4A4
469211,2:227953355:T>C,NM_000092.4:c.1623+14A>G,\N,\N,22/47,Unknown significance,\N,intron_variant,2.329,0.0000605694,EXAC_SAS_AF,COL4A4
469212,2:227953364:C>A,NM_000092.4:c.1623+5G>T,\N,\N,22/47,Pathogenic,Alport syndrome,splice_region_variant&intron_variant,14.41,\N,\N,COL4A4
469213,2:227953368:C>G,NM_000092.4:c.1623+1G>C,\N,\N,22/47,Pathogenic,Alport syndrome,splice_donor_variant,24.5,\N,\N,COL4A4
469214,2:227953373:A>G,NM_000092.4:c.1619T>C,NP_000083.3:p.Leu540Pro,22/48,\N,Likely benign,\N,missense_variant,23.3,\N,\N,COL4A4
469215,2:227953383:G>T,NM_000092.4:c.1609C>A,NP_000083.3:p.Pro537Thr,22/48,\N,Likely benign,\N,missense_variant,7.258,0.001,1KG_SAS_AF,COL4A4
469216,2:227953387:T>C,NM_000092.4:c.1605A>G,NP_000083.3:p.Glu535=,22/48,\N,Unknown significance,\N,synonymous_variant,3.344,0.000102166,EXAC_AFR_AF,COL4A4
469217,2:227953392:C>T,NM_000092.4:c.1600G>A,NP_000083.3:p.Ala534Thr,22/48,\N,Likely benign,\N,missense_variant,24.8,0.0000864753,EXAC_AMR_AF,COL4A4
469218,2:227953394:C>T,NM_000092.4:c.1598G>A,NP_000083.3:p.Gly533Asp,22/48,\N,Pathogenic,Alport syndrome,missense_variant,32,\N,\N,COL4A4
469219,2:227953400:G>A,NM_000092.4:c.1592C>T,NP_000083.3:p.Pro531Leu,22/48,\N,Likely benign,\N,missense_variant,15.38,0.000151194,EXAC_FIN_AF,COL4A4
469220,2:227953401:G>A,NM_000092.4:c.1591C>T,NP_000083.3:p.Pro531Ser,22/48,\N,Likely benign,\N,missense_variant,6.498,0.0000300165,EXAC_NFE_AF,COL4A4
469221,2:227953405:T>C,NM_000092.4:c.1587A>G,NP_000083.3:p.Pro529=,22/48,\N,Unknown significance,\N,synonymous_variant,2.186,0.0000864902,EXAC_AMR_AF,COL4A4
469222,2:227953411:AC>A,NM_000092.4:c.1580del,NP_000083.3:p.Gly527ValfsTer126,22/48,\N,Pathogenic,Alport syndrome,frameshift_variant,34,\N,\N,COL4A4
469223,2:227953413:C>A,NM_000092.4:c.1579G>T,NP_000083.3:p.Gly527Cys,22/48,\N,Pathogenic,Alport syndrome,missense_variant,31,\N,\N,COL4A4
469224,2:227953418:G>A,NM_000092.4:c.1574C>T,NP_000083.3:p.Thr525Ile,22/48,\N,Likely benign,\N,missense_variant,11.24,0.0000864753,EXAC_AMR_AF,COL4A4
469225,2:227953421:C>T,NM_000092.4:c.1571G>A,NP_000083.3:p.Gly524Glu,22/48,\N,Unknown significance,\N,missense_variant,25.1,0.0000150123,EXAC_NFE_AF,COL4A4
469226,2:227953425:G>A,NM_000092.4:c.1567C>T,NP_000083.3:p.Leu523Phe,22/48,\N,Likely benign,\N,missense_variant,15.33,0.001,1KG_EAS_AF,COL4A4
469227,2:227953429:G>C,NM_000092.4:c.1563C>G,NP_000083.3:p.Gly521=,22/48,\N,Unknown significance,\N,synonymous_variant,4.081,0.000121448,EVS_EA_AF,COL4A4
469228,2:227953432:A>C,NM_000092.4:c.1560T>G,NP_000083.3:p.Pro520=,22/48,\N,Unknown significance,\N,synonymous_variant,0.596,0.000285302,EXAC_NFE_AF,COL4A4
469229,2:227953433:G>A,NM_000092.4:c.1559C>T,NP_000083.3:p.Pro520Leu,22/48,\N,Unknown significance,\N,missense_variant,26.4,0.000151332,EXAC_FIN_AF,COL4A4
469230,2:227953437:G>C,NM_000092.4:c.1555C>G,NP_000083.3:p.Leu519Val,22/48,\N,Likely benign,\N,missense_variant,0.649,0.000453995,EXAC_FIN_AF,COL4A4
469231,2:227953439:C>A,NM_000092.4:c.1553G>T,NP_000083.3:p.Gly518Val,22/48,\N,Unknown significance,\N,missense_variant,27.5,0.001,1KG_EAS_AF,COL4A4
469232,2:227953439:C>T,NM_000092.4:c.1553G>A,NP_000083.3:p.Gly518Glu,22/48,\N,Pathogenic,Alport syndrome,missense_variant,27.6,\N,\N,COL4A4
469233,2:227953445:T>A,NM_000092.4:c.1547A>T,NP_000083.3:p.Asp516Val,22/48,\N,Unknown significance,\N,missense_variant,24,0.0000605767,EXAC_SAS_AF,COL4A4
469234,2:227953449:C>A,NM_000092.4:c.1543G>T,NP_000083.3:p.Gly515Ter,22/48,\N,Unknown significance,\N,stop_gained,37,\N,\N,COL4A4
469235,2:227953449:C>T,NM_000092.4:c.1543G>A,NP_000083.3:p.Gly515Arg,22/48,\N,Unknown significance,\N,missense_variant,29,\N,\N,COL4A4
469236,2:227953454:C>T,NM_000092.4:c.1538G>A,NP_000083.3:p.Ser513Asn,22/48,\N,Likely benign,\N,missense_variant,2.099,0.000102838,EXAC_AFR_AF,COL4A4
469237,2:227953455:T>C,NM_000092.4:c.1537A>G,NP_000083.3:p.Ser513Gly,22/48,\N,Likely benign,\N,missense_variant,0.314,0.000121892,EVS_EA_AF,COL4A4
469238,2:227953463:C>T,NM_000092.4:c.1529G>A,NP_000083.3:p.Arg510Lys,22/48,\N,Likely benign,\N,missense_variant,19.44,0.000102965,EXAC_AFR_AF,COL4A4
469239,2:227953465:C>T,NM_000092.4:c.1527G>A,NP_000083.3:p.Gly509=,22/48,\N,Unknown significance,\N,synonymous_variant,10.37,0.000122011,EVS_EA_AF,COL4A4
469240,2:227953478:G>A,NM_000092.4:c.1514C>T,NP_000083.3:p.Pro505Leu,22/48,\N,Unknown significance,\N,missense_variant,23.8,0.0000151103,EXAC_NFE_AF,COL4A4
469241,2:227953483:G>A,NM_000092.4:c.1509C>T,NP_000083.3:p.Gly503=,22/48,\N,Unknown significance,\N,synonymous_variant,0.364,\N,\N,COL4A4
469242,2:227953488:G>A,NM_000092.4:c.1504C>T,NP_000083.3:p.Pro502Ser,22/48,\N,Likely benign,\N,missense_variant,14.13,0.0000151217,EXAC_NFE_AF,COL4A4
469243,2:227953488:G>C,NM_000092.4:c.1504C>G,NP_000083.3:p.Pro502Ala,22/48,\N,Likely benign,\N,missense_variant,9.404,0.000347283,EXAC_AMR_AF,COL4A4
469244,2:227953491:G>A,NM_000092.4:c.1501C>T,NP_000083.3:p.Pro501Ser,22/48,\N,Likely benign,\N,missense_variant,11.87,0.00112108,EXAC_OTH_AF,COL4A4
469245,2:227953498:G>A,NM_000092.4:c.1494C>T,NP_000083.3:p.Pro498=,22/48,\N,Unknown significance,\N,synonymous_variant,8.872,0.0000302764,EXAC_NFE_AF,COL4A4
469246,2:227953509:C>T,NM_000092.4:c.1483G>A,NP_000083.3:p.Glu495Lys,22/48,\N,Likely benign,\N,missense_variant,0.015,0.0000868961,EXAC_AMR_AF,COL4A4
469247,2:227953517:C>A,NM_000092.4:c.1475G>T,NP_000083.3:p.Cys492Phe,22/48,\N,Unknown significance,\N,missense_variant,29.6,0.0000151883,EXAC_NFE_AF,COL4A4
469248,2:227953521:G>A,NM_000092.4:c.1471C>T,NP_000083.3:p.Leu491Phe,22/48,\N,Likely benign,\N,missense_variant,22.2,0.000583703,EXAC_EAS_AF,COL4A4
469249,2:227953530:T>G,NM_000092.4:c.1462A>C,NP_000083.3:p.Asn488His,22/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.7,0.000105865,EXAC_AFR_AF,COL4A4
469250,2:227953532:C>A,NM_000092.4:c.1460G>T,NP_000083.3:p.Gly487Val,22/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,27,\N,\N,COL4A4
469251,2:227953538:C>T,NM_000092.4:c.1460-6G>A,\N,\N,21/47,Unknown significance,\N,splice_region_variant&intron_variant,4.505,0.000122081,EXAC_NFE_AF,COL4A4
469252,2:227953545:T>C,NM_000092.4:c.1460-13A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,2.222,0.0000152999,EXAC_NFE_AF,COL4A4
469253,2:227953546:C>T,NM_000092.4:c.1460-14G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,1.848,0.0000874891,EXAC_AMR_AF,COL4A4
469254,2:227953552:C>A,NM_000092.4:c.1460-20G>T,\N,\N,21/47,Unknown significance,\N,intron_variant,4.381,0.0000608939,EXAC_SAS_AF,COL4A4
469255,2:227953557:T>C,NM_000092.4:c.1460-25A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,8.487,0.0000609013,EXAC_SAS_AF,COL4A4
469256,2:227953563:T>C,NM_000092.4:c.1460-31A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,8.163,0.000218293,EXAC_AFR_AF,COL4A4
469257,2:227953564:A>G,NM_000092.4:c.1460-32T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,4.566,\N,\N,COL4A4
469258,2:227953575:A>G,NM_000092.4:c.1460-43T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,11.83,0.0000464756,EXAC_NFE_AF,COL4A4
469259,2:227953585:A>G,NM_000092.4:c.1460-53T>C,\N,\N,21/47,Benign,\N,intron_variant,14.7,0.0242,1KG_AFR_AF,COL4A4
469260,2:227953636:C>T,NM_000092.4:c.1460-104G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,1.037,\N,\N,COL4A4
469261,2:227953637:G>A,NM_000092.4:c.1460-105C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,2.463,0.001,1KG_SAS_AF,COL4A4
469262,2:227953665:G>A,NM_000092.4:c.1460-133C>T,\N,\N,21/47,Benign,\N,intron_variant,2.82,0.0522,1KG_AFR_AF,COL4A4
469263,2:227953726:G>A,NM_000092.4:c.1460-194C>T,\N,\N,21/47,Benign,\N,intron_variant,3.623,0.0456,1KG_EAS_AF,COL4A4
469264,2:227953741:C>T,NM_000092.4:c.1460-209G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,3.723,0.0014,1KG_AMR_AF,COL4A4
469265,2:227953747:T>C,NM_000092.4:c.1460-215A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,9.661,\N,\N,COL4A4
469266,2:227953748:A>G,NM_000092.4:c.1460-216T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,10.47,\N,\N,COL4A4
469267,2:227953766:G>A,NM_000092.4:c.1460-234C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,1.426,0.002,1KG_SAS_AF,COL4A4
469268,2:227953796:T>C,NM_000092.4:c.1460-264A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,3.339,0.0008,1KG_AFR_AF,COL4A4
469269,2:227953821:A>C,NM_000092.4:c.1460-289T>G,\N,\N,21/47,Unknown significance,\N,intron_variant,8.589,\N,\N,COL4A4
469270,2:227953894:G>GA,NM_000092.4:c.1460-363dup,\N,\N,21/47,Benign,\N,intron_variant,0.829,0.5389,1KG_SAS_AF,COL4A4
469271,2:227953894:G>GAA,NM_000092.4:c.1460-364_1460-363dup,\N,\N,21/47,Unknown significance,\N,intron_variant,0.764,\N,\N,COL4A4
469272,2:227953942:A>G,NM_000092.4:c.1460-410T>C,\N,\N,21/47,Benign,\N,intron_variant,1.974,0.0083,1KG_AFR_AF,COL4A4
469273,2:227953984:A>G,NM_000092.4:c.1460-452T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,8.337,0.001,1KG_EAS_AF,COL4A4
469274,2:227953998:T>C,NM_000092.4:c.1460-466A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,10.07,\N,\N,COL4A4
469275,2:227954024:C>G,NM_000092.4:c.1460-492G>C,\N,\N,21/47,Unknown significance,\N,intron_variant,3.294,\N,\N,COL4A4
469276,2:227954056:T>A,NM_000092.4:c.1460-524A>T,\N,\N,21/47,Benign,\N,intron_variant,11.1,0.1974,1KG_EAS_AF,COL4A4
469277,2:227954062:G>A,NM_000092.4:c.1459+522C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,8.15,\N,\N,COL4A4
469278,2:227954064:G>T,NM_000092.4:c.1459+520C>A,\N,\N,21/47,Unknown significance,\N,intron_variant,6.77,0.001,1KG_SAS_AF,COL4A4
469279,2:227954167:T>C,NM_000092.4:c.1459+417A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,3.188,\N,\N,COL4A4
469280,2:227954172:G>A,NM_000092.4:c.1459+412C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,2.033,0.0008,1KG_AFR_AF,COL4A4
469281,2:227954189:G>A,NM_000092.4:c.1459+395C>T,\N,\N,21/47,Benign,\N,intron_variant,2.562,0.0129,1KG_EAS_AF,COL4A4
469282,2:227954193:C>A,NM_000092.4:c.1459+391G>T,\N,\N,21/47,Unknown significance,\N,intron_variant,7.611,0.003,1KG_AFR_AF,COL4A4
469283,2:227954202:C>A,NM_000092.4:c.1459+382G>T,\N,\N,21/47,Unknown significance,\N,intron_variant,1.767,0.0008,1KG_AFR_AF,COL4A4
469284,2:227954207:A>G,NM_000092.4:c.1459+377T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,4.309,0.0014,1KG_AMR_AF,COL4A4
469285,2:227954299:T>A,NM_000092.4:c.1459+285A>T,\N,\N,21/47,Unknown significance,\N,intron_variant,5.846,0.0023,1KG_AFR_AF,COL4A4
469286,2:227954304:C>CAT,NM_000092.4:c.1459+278_1459+279dup,\N,\N,21/47,Unknown significance,\N,intron_variant,2.64,\N,\N,COL4A4
469287,2:227954304:CAT>C,NM_000092.4:c.1459+278_1459+279del,\N,\N,21/47,Unknown significance,\N,intron_variant,4.108,\N,\N,COL4A4
469288,2:227954322:TATAC>T,NM_000092.4:c.1459+258_1459+261del,\N,\N,21/47,Unknown significance,\N,intron_variant,4.603,\N,\N,COL4A4
469289,2:227954324:TAC>T,NM_000092.4:c.1459+258_1459+259del,\N,\N,21/47,Unknown significance,\N,intron_variant,2.987,\N,\N,COL4A4
469290,2:227954326:C>T,NM_000092.4:c.1459+258G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,0.855,\N,\N,COL4A4
469291,2:227954328:T>C,NM_000092.4:c.1459+256A>G,\N,\N,21/47,Benign,\N,intron_variant,0.486,0.0197,1KG_AFR_AF,COL4A4
469292,2:227954330:C>T,NM_000092.4:c.1459+254G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,0.819,\N,\N,COL4A4
469293,2:227954331:A>G,NM_000092.4:c.1459+253T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,0.477,0.0014,1KG_AMR_AF,COL4A4
469294,2:227954340:A>T,NM_000092.4:c.1459+244T>A,\N,\N,21/47,Unknown significance,\N,intron_variant,0.028,\N,\N,COL4A4
469295,2:227954364:C>G,NM_000092.4:c.1459+220G>C,\N,\N,21/47,Unknown significance,\N,intron_variant,4.285,\N,\N,COL4A4
469296,2:227954370:TAATATATAAGACACAAGGCTTTATA>T,NM_000092.4:c.1459+189_1459+213del,\N,\N,21/47,Benign,\N,intron_variant,8.884,0.1964,1KG_EAS_AF,COL4A4
469297,2:227954398:T>C,NM_000092.4:c.1459+186A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,2.562,0.001,1KG_EUR_AF,COL4A4
469298,2:227954401:A>G,NM_000092.4:c.1459+183T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,0.935,0.0008,1KG_AFR_AF,COL4A4
469299,2:227954413:G>A,NM_000092.4:c.1459+171C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,5.331,0.004,1KG_EUR_AF,COL4A4
469300,2:227954427:G>A,NM_000092.4:c.1459+157C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,5.053,\N,\N,COL4A4
469301,2:227954434:G>A,NM_000092.4:c.1459+150C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,1.429,0.001,1KG_SAS_AF,COL4A4
469302,2:227954446:C>A,NM_000092.4:c.1459+138G>T,\N,\N,21/47,Unknown significance,\N,intron_variant,5.176,\N,\N,COL4A4
469303,2:227954501:T>C,NM_000092.4:c.1459+83A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,6.824,0.0008,1KG_AFR_AF,COL4A4
469304,2:227954530:C>T,NM_000092.4:c.1459+54G>A,\N,\N,21/47,Unknown significance,\N,intron_variant,4.385,\N,\N,COL4A4
469305,2:227954531:G>A,NM_000092.4:c.1459+53C>T,\N,\N,21/47,Unknown significance,\N,intron_variant,1.672,0.001,1KG_EUR_AF,COL4A4
469306,2:227954535:A>G,NM_000092.4:c.1459+49T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,0.709,0.0000154135,EXAC_NFE_AF,COL4A4
469307,2:227954540:T>C,NM_000092.4:c.1459+44A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,0.085,0.000015396,EXAC_NFE_AF,COL4A4
469308,2:227954552:T>C,NM_000092.4:c.1459+32A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,6.398,0.000121418,EVS_EA_AF,COL4A4
469309,2:227954555:T>C,NM_000092.4:c.1459+29A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,8.717,0.000103199,EXAC_AFR_AF,COL4A4
469310,2:227954558:A>G,NM_000092.4:c.1459+26T>C,\N,\N,21/47,Unknown significance,\N,intron_variant,8.974,0.0000879972,EXAC_AMR_AF,COL4A4
469311,2:227954564:T>C,NM_000092.4:c.1459+20A>G,\N,\N,21/47,Unknown significance,\N,intron_variant,7.702,0.0000151842,EXAC_NFE_AF,COL4A4
469312,2:227954567:C>CT,NM_000092.4:c.1459+16dup,\N,\N,21/47,Unknown significance,\N,intron_variant,6.322,0.000205381,EXAC_AFR_AF,COL4A4
469313,2:227954583:C>T,NM_000092.4:c.1459+1G>A,\N,\N,21/47,Pathogenic,Alport syndrome,splice_donor_variant,25.8,0.000116604,EXAC_EAS_AF,COL4A4
469314,2:227954590:C>A,NM_000092.4:c.1453G>T,NP_000083.3:p.Glu485Ter,21/48,\N,Unknown significance,\N,stop_gained,40,0.000015034,EXAC_NFE_AF,COL4A4
469315,2:227954599:G>A,NM_000092.4:c.1444C>T,NP_000083.3:p.Pro482Ser,21/48,\N,Benign,\N,missense_variant,1.217,0.680755,EXAC_AMR_AF,COL4A4
469316,2:227954602:C>T,NM_000092.4:c.1441G>A,NP_000083.3:p.Gly481Ser,21/48,\N,Pathogenic,Macroscopic haematuria with microhaematuria,missense_variant,29.7,0.0014,1KG_AMR_AF,COL4A4
469317,2:227954608:C>G,NM_000092.4:c.1435G>C,NP_000083.3:p.Gly479Arg,21/48,\N,Likely benign,\N,missense_variant,12.76,0.0014,1KG_AMR_AF,COL4A4
469318,2:227954610:C>T,NM_000092.4:c.1433G>A,NP_000083.3:p.Gly478Glu,21/48,\N,Pathogenic,Alport syndrome,missense_variant,26.1,0.0000149975,EXAC_NFE_AF,COL4A4
469319,2:227954615:G>A,NM_000092.4:c.1428C>T,NP_000083.3:p.Pro476=,21/48,\N,Unknown significance,\N,synonymous_variant,7.714,0.0015,1KG_AFR_AF,COL4A4
469320,2:227954615:G>C,NM_000092.4:c.1428C>G,NP_000083.3:p.Pro476=,21/48,\N,Unknown significance,\N,synonymous_variant,4.263,0.0000606281,EXAC_SAS_AF,COL4A4
469321,2:227954617:G>A,NM_000092.4:c.1426C>T,NP_000083.3:p.Pro476Ser,21/48,\N,Likely benign,\N,missense_variant,22.5,0.0000149988,EXAC_NFE_AF,COL4A4
469322,2:227954617:G>T,NM_000092.4:c.1426C>A,NP_000083.3:p.Pro476Thr,21/48,\N,Unknown significance,\N,missense_variant,21.7,0.0000606281,EXAC_SAS_AF,COL4A4
469323,2:227954622:A>T,NM_000092.4:c.1421T>A,NP_000083.3:p.Val474Asp,21/48,\N,Likely benign,\N,missense_variant,21.8,0.000116117,EXAC_EAS_AF,COL4A4
469324,2:227954624:T>A,NM_000092.4:c.1419A>T,NP_000083.3:p.Lys473Asn,21/48,\N,Likely benign,\N,missense_variant,22.4,\N,\N,COL4A4
469325,2:227954638:C>A,NM_000092.4:c.1405G>T,NP_000083.3:p.Gly469Ter,21/48,\N,Pathogenic,Alport syndrome,stop_gained,37,\N,\N,COL4A4
469326,2:227954639:T>C,NM_000092.4:c.1404A>G,NP_000083.3:p.Gln468=,21/48,\N,Unknown significance,\N,synonymous_variant,0.012,0.000060687,EXAC_SAS_AF,COL4A4
469327,2:227954645:T>TC,NM_000092.4:c.1397dup,NP_000083.3:p.Pro467ThrfsTer23,21/48,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,COL4A4
469328,2:227954647:C>T,NM_000092.4:c.1396G>A,NP_000083.3:p.Gly466Arg,21/48,\N,Unknown significance,\N,missense_variant,28.2,0.0014,1KG_AMR_AF,COL4A4
469329,2:227954648:G>A,NM_000092.4:c.1395C>T,NP_000083.3:p.Pro465=,21/48,\N,Unknown significance,\N,synonymous_variant,7.776,0.000116171,EXAC_EAS_AF,COL4A4
469330,2:227954649:G>A,NM_000092.4:c.1394C>T,NP_000083.3:p.Pro465Leu,21/48,\N,Unknown significance,\N,missense_variant,24,0.0000600474,EXAC_NFE_AF,COL4A4
469331,2:227954651:G>T,NM_000092.4:c.1392C>A,NP_000083.3:p.Asn464Lys,21/48,\N,Likely benign,\N,missense_variant,0.003,0.000015015,EXAC_NFE_AF,COL4A4
469332,2:227954657:A>G,NM_000092.4:c.1386T>C,NP_000083.3:p.Val462=,21/48,\N,Unknown significance,\N,synonymous_variant,0.628,0.0000608347,EXAC_SAS_AF,COL4A4
469333,2:227954664:C>T,NM_000092.4:c.1379G>A,NP_000083.3:p.Cys460Tyr,21/48,\N,Unknown significance,\N,missense_variant,16,0.00036572,EXAC_SAS_AF,COL4A4
469334,2:227954666:G>A,NM_000092.4:c.1377C>T,NP_000083.3:p.Tyr459=,21/48,\N,Unknown significance,\N,synonymous_variant,0.034,0.000122011,EVS_EA_AF,COL4A4
469335,2:227954668:A>G,NM_000092.4:c.1375T>C,NP_000083.3:p.Tyr459His,21/48,\N,Likely benign,\N,missense_variant,13.45,0.0000609905,EXAC_SAS_AF,COL4A4
469336,2:227954678:C>A,NM_000092.4:c.1370-5G>T,\N,\N,20/47,Unknown significance,\N,splice_region_variant&intron_variant,1.997,0.000232883,EXAC_EAS_AF,COL4A4
469337,2:227954682:G>A,NM_000092.4:c.1370-9C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.716,0.0000303389,EXAC_NFE_AF,COL4A4
469338,2:227954688:AG>A,NM_000092.4:c.1370-16del,\N,\N,20/47,Unknown significance,\N,intron_variant,0.201,0.000103242,EXAC_AFR_AF,COL4A4
469339,2:227954690:G>A,NM_000092.4:c.1370-17C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.426,0.000266241,EVS_AA_AF,COL4A4
469340,2:227954690:G>T,NM_000092.4:c.1370-17C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.686,0.000706215,EXAC_AMR_AF,COL4A4
469341,2:227954695:G>T,NM_000092.4:c.1370-22C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,4.053,0.0000153841,EXAC_NFE_AF,COL4A4
469342,2:227954697:G>A,NM_000092.4:c.1370-24C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,5.85,0.0000154112,EXAC_NFE_AF,COL4A4
469343,2:227954700:G>A,NM_000092.4:c.1370-27C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,7.942,\N,\N,COL4A4
469344,2:227954711:A>C,NM_000092.4:c.1370-38T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,8.103,0.0000313126,EXAC_NFE_AF,COL4A4
469345,2:227954712:T>C,NM_000092.4:c.1370-39A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,9.714,0.0000156779,EXAC_NFE_AF,COL4A4
469346,2:227954714:A>C,NM_000092.4:c.1370-41T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,9.444,0.001,1KG_EUR_AF,COL4A4
469347,2:227954715:T>C,NM_000092.4:c.1370-42A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,10.31,0.0000316416,EXAC_NFE_AF,COL4A4
469348,2:227954721:T>C,NM_000092.4:c.1370-48A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,3.194,0.00010618,EXAC_AFR_AF,COL4A4
469349,2:227954724:C>T,NM_000092.4:c.1370-51G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,3.711,\N,\N,COL4A4
469350,2:227954757:A>T,NM_000092.4:c.1370-84T>A,\N,\N,20/47,Unknown significance,\N,intron_variant,4.551,\N,\N,COL4A4
469351,2:227954770:C>A,NM_000092.4:c.1370-97G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.104,0.0038,1KG_AFR_AF,COL4A4
469352,2:227954771:G>A,NM_000092.4:c.1370-98C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.939,0.001,1KG_EAS_AF,COL4A4
469353,2:227954773:G>A,NM_000092.4:c.1370-100C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.799,\N,\N,COL4A4
469354,2:227954789:C>T,NM_000092.4:c.1370-116G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,3.348,0.0008,1KG_AFR_AF,COL4A4
469355,2:227954850:T>C,NM_000092.4:c.1370-177A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,9.408,0.001,1KG_EAS_AF,COL4A4
469356,2:227954892:C>T,NM_000092.4:c.1370-219G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,4.645,0.0029,1KG_AMR_AF,COL4A4
469357,2:227954904:C>A,NM_000092.4:c.1370-231G>T,\N,\N,20/47,Benign,\N,intron_variant,1.661,0.0068,1KG_AFR_AF,COL4A4
469358,2:227954951:G>A,NM_000092.4:c.1370-278C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.996,0.001,1KG_EAS_AF,COL4A4
469359,2:227954998:T>A,NM_000092.4:c.1370-325A>T,\N,\N,20/47,Benign,\N,intron_variant,6.923,0.0511,1KG_SAS_AF,COL4A4
469360,2:227955021:C>T,NM_000092.4:c.1370-348G>A,\N,\N,20/47,Benign,\N,intron_variant,1.673,0.0575,1KG_AFR_AF,COL4A4
469361,2:227955063:G>T,NM_000092.4:c.1370-390C>A,\N,\N,20/47,Benign,\N,intron_variant,1.103,0.1964,1KG_EAS_AF,COL4A4
469362,2:227955065:G>A,NM_000092.4:c.1370-392C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.78,0.002,1KG_SAS_AF,COL4A4
469363,2:227955070:T>G,NM_000092.4:c.1370-397A>C,\N,\N,20/47,Unknown significance,\N,intron_variant,3.845,0.001,1KG_EAS_AF,COL4A4
469364,2:227955084:C>T,NM_000092.4:c.1370-411G>A,\N,\N,20/47,Benign,\N,intron_variant,6.146,0.3502,1KG_AFR_AF,COL4A4
469365,2:227955091:G>A,NM_000092.4:c.1370-418C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,5.671,0.0038,1KG_AFR_AF,COL4A4
469366,2:227955143:C>T,NM_000092.4:c.1370-470G>A,\N,\N,20/47,Benign,\N,intron_variant,7.72,0.0182,1KG_AFR_AF,COL4A4
469367,2:227955186:C>T,NM_000092.4:c.1370-513G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,1.498,0.002,1KG_SAS_AF,COL4A4
469368,2:227955193:G>A,NM_000092.4:c.1370-520C>T,\N,\N,20/47,Benign,\N,intron_variant,1.01,0.0143,1KG_SAS_AF,COL4A4
469369,2:227955198:C>T,NM_000092.4:c.1370-525G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.068,\N,\N,COL4A4
469370,2:227955208:T>A,NM_000092.4:c.1370-535A>T,\N,\N,20/47,Unknown significance,\N,intron_variant,3.593,\N,\N,COL4A4
469371,2:227955232:A>G,NM_000092.4:c.1370-559T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,1.1,\N,\N,COL4A4
469372,2:227955238:G>A,NM_000092.4:c.1370-565C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.205,0.0008,1KG_AFR_AF,COL4A4
469373,2:227955265:G>A,NM_000092.4:c.1370-592C>T,\N,\N,20/47,Benign,\N,intron_variant,3.66,0.0091,1KG_AFR_AF,COL4A4
469374,2:227955282:T>C,NM_000092.4:c.1370-609A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,2.773,0.0014,1KG_AMR_AF,COL4A4
469375,2:227955289:A>C,NM_000092.4:c.1370-616T>G,\N,\N,20/47,Benign,\N,intron_variant,0.564,0.0454,1KG_AFR_AF,COL4A4
469376,2:227955291:C>A,NM_000092.4:c.1370-618G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.758,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
469377,2:227955297:C>T,NM_000092.4:c.1370-624G>A,\N,\N,20/47,Benign,\N,intron_variant,1.808,0.0598,1KG_AFR_AF,COL4A4
469378,2:227955303:T>C,NM_000092.4:c.1370-630A>G,\N,\N,20/47,Benign,\N,intron_variant,1.619,0.546,1KG_SAS_AF,COL4A4
469379,2:227955331:G>A,NM_000092.4:c.1370-658C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.053,0.0015,1KG_AFR_AF,COL4A4
469380,2:227955338:C>T,NM_000092.4:c.1370-665G>A,\N,\N,20/47,Benign,\N,intron_variant,1.325,0.0102,1KG_SAS_AF,COL4A4
469381,2:227955339:G>A,NM_000092.4:c.1370-666C>T,\N,\N,20/47,Benign,\N,intron_variant,3.939,0.1868,1KG_AFR_AF,COL4A4
469382,2:227955339:G>C,NM_000092.4:c.1370-666C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.035,\N,\N,COL4A4
469383,2:227955353:C>T,NM_000092.4:c.1370-680G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,5.483,\N,\N,COL4A4
469384,2:227955383:G>A,NM_000092.4:c.1370-710C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,6.877,0.0008,1KG_AFR_AF,COL4A4
469385,2:227955384:C>T,NM_000092.4:c.1370-711G>A,\N,\N,20/47,Benign,\N,intron_variant,7.898,0.0212,1KG_AFR_AF,COL4A4
469386,2:227955423:G>A,NM_000092.4:c.1370-750C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.262,0.0014,1KG_AMR_AF,COL4A4
469387,2:227955445:G>A,NM_000092.4:c.1370-772C>T,\N,\N,20/47,Benign,\N,intron_variant,1.257,0.025,1KG_AFR_AF,COL4A4
469388,2:227955447:A>G,NM_000092.4:c.1370-774T>C,\N,\N,20/47,Benign,\N,intron_variant,1.872,0.638,1KG_SAS_AF,COL4A4
469389,2:227955488:T>C,NM_000092.4:c.1370-815A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.664,0.0008,1KG_AFR_AF,COL4A4
469390,2:227955493:A>AAAAT,NM_000092.4:c.1370-824_1370-821dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469391,2:227955509:T>A,NM_000092.4:c.1370-836A>T,\N,\N,20/47,Benign,\N,intron_variant,1.196,0.0083,1KG_AFR_AF,COL4A4
469392,2:227955560:A>G,NM_000092.4:c.1370-887T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,1.531,\N,\N,COL4A4
469393,2:227955561:C>G,NM_000092.4:c.1370-888G>C,\N,\N,20/47,Unknown significance,\N,intron_variant,0.827,\N,\N,COL4A4
469394,2:227955564:C>T,NM_000092.4:c.1370-891G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.92,0.0014,1KG_AMR_AF,COL4A4
469395,2:227955590:T>TA,NM_000092.4:c.1370-918dup,\N,\N,20/47,Unknown significance,\N,intron_variant,0.486,\N,\N,COL4A4
469396,2:227955590:TA>T,NM_000092.4:c.1370-918del,\N,\N,20/47,Unknown significance,\N,intron_variant,0.087,\N,\N,COL4A4
469397,2:227955690:A>G,NM_000092.4:c.1370-1017T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.475,\N,\N,COL4A4
469398,2:227955691:C>T,NM_000092.4:c.1370-1018G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,3.135,0.001,1KG_EUR_AF,COL4A4
469399,2:227955697:GA>G,NM_000092.4:c.1370-1025del,\N,\N,20/47,Benign,\N,intron_variant,0.887,0.0091,1KG_AFR_AF,COL4A4
469400,2:227955738:T>TA,NM_000092.4:c.1370-1066dup,\N,\N,20/47,Benign,\N,intron_variant,1.107,0.0144,1KG_AMR_AF,COL4A4
469401,2:227955738:T>TAA,NM_000092.4:c.1370-1067_1370-1066dup,\N,\N,20/47,Unknown significance,\N,intron_variant,1.024,\N,\N,COL4A4
469402,2:227955772:T>C,NM_000092.4:c.1370-1099A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.138,0.0015,1KG_AFR_AF,COL4A4
469403,2:227955811:G>A,NM_000092.4:c.1370-1138C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.207,\N,\N,COL4A4
469404,2:227955822:C>A,NM_000092.4:c.1370-1149G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.103,\N,\N,COL4A4
469405,2:227955835:G>A,NM_000092.4:c.1370-1162C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.727,0.0015,1KG_AFR_AF,COL4A4
469406,2:227955896:G>A,NM_000092.4:c.1370-1223C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.798,\N,\N,COL4A4
469407,2:227955935:A>G,NM_000092.4:c.1370-1262T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,9.05,0.0014,1KG_AMR_AF,COL4A4
469408,2:227955948:A>G,NM_000092.4:c.1370-1275T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,5.407,0.0023,1KG_AFR_AF,COL4A4
469409,2:227955963:C>CAGAT,NM_000092.4:c.1370-1294_1370-1291dup,\N,\N,20/47,Benign,\N,intron_variant,0.215,0.0635,1KG_EAS_AF,COL4A4
469410,2:227955963:C>CAGATAT,NM_000092.4:c.1370-1296_1370-1291dup,\N,\N,20/47,Unknown significance,\N,intron_variant,0.177,\N,\N,COL4A4
469411,2:227955963:CAGATAT>C,NM_000092.4:c.1370-1296_1370-1291del,\N,\N,20/47,Unknown significance,\N,intron_variant,4.396,\N,\N,COL4A4
469412,2:227955963:CAGATATAGATAT>C,NM_000092.4:c.1370-1302_1370-1291del,\N,\N,20/47,Benign,\N,intron_variant,4.012,0.0877,1KG_AFR_AF,COL4A4
469413,2:227955965:GAT>G,NM_000092.4:c.1370-1294_1370-1293del,\N,\N,20/47,Unknown significance,\N,intron_variant,0.694,\N,\N,COL4A4
469414,2:227955987:T>TAGATATAGATATA,NM_000092.4:c.1370-1327_1370-1315dup,\N,\N,20/47,Benign,\N,intron_variant,\N,0.0371,1KG_AFR_AF,COL4A4
469415,2:227956019:A>ATATAG,NM_000092.4:c.1370-1347_1370-1346insCTATA,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469416,2:227956019:A>G,NM_000092.4:c.1370-1346T>C,\N,\N,20/47,Benign,\N,intron_variant,0.604,0.0643,1KG_AFR_AF,COL4A4
469417,2:227956027:A>G,NM_000092.4:c.1370-1354T>C,\N,\N,20/47,Benign,\N,intron_variant,2.554,0.2042,1KG_AFR_AF,COL4A4
469418,2:227956040:T>A,NM_000092.4:c.1370-1367A>T,\N,\N,20/47,Benign,\N,intron_variant,10.36,0.0469,1KG_AFR_AF,COL4A4
469419,2:227956067:T>C,NM_000092.4:c.1370-1394A>G,\N,\N,20/47,Benign,\N,intron_variant,0.02,0.5665,1KG_SAS_AF,COL4A4
469420,2:227956138:T>TA,NM_000092.4:c.1370-1466dup,\N,\N,20/47,Unknown significance,\N,intron_variant,0.697,\N,\N,COL4A4
469421,2:227956138:TA>T,NM_000092.4:c.1370-1466del,\N,\N,20/47,Unknown significance,\N,intron_variant,1.224,\N,\N,COL4A4
469422,2:227956138:TAAAA>T,NM_000092.4:c.1370-1469_1370-1466del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469423,2:227956159:T>C,NM_000092.4:c.1370-1486A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.456,0.002,1KG_SAS_AF,COL4A4
469424,2:227956178:CAGAT>C,NM_000092.4:c.1370-1509_1370-1506del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469425,2:227956184:G>GAT,NM_000092.4:c.1370-1513_1370-1512dup,\N,\N,20/47,Benign,\N,intron_variant,1.344,0.0454,1KG_AFR_AF,COL4A4
469426,2:227956190:G>T,NM_000092.4:c.1370-1517C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,1.545,0.001,1KG_EUR_AF,COL4A4
469427,2:227956224:G>A,NM_000092.4:c.1370-1551C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,7.589,0.003,1KG_AFR_AF,COL4A4
469428,2:227956232:C>T,NM_000092.4:c.1370-1559G>A,\N,\N,20/47,Benign,\N,intron_variant,8.491,0.0061,1KG_SAS_AF,COL4A4
469429,2:227956270:G>A,NM_000092.4:c.1370-1597C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,14.94,\N,\N,COL4A4
469430,2:227956334:G>T,NM_000092.4:c.1370-1661C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.509,0.0008,1KG_AFR_AF,COL4A4
469431,2:227956335:C>T,NM_000092.4:c.1370-1662G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.702,0.001,1KG_EAS_AF,COL4A4
469432,2:227956338:G>A,NM_000092.4:c.1370-1665C>T,\N,\N,20/47,Benign,\N,intron_variant,0.583,0.1954,1KG_EAS_AF,COL4A4
469433,2:227956382:G>C,NM_000092.4:c.1370-1709C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.294,\N,\N,COL4A4
469434,2:227956394:G>A,NM_000092.4:c.1370-1721C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.425,\N,\N,COL4A4
469435,2:227956396:G>A,NM_000092.4:c.1370-1723C>T,\N,\N,20/47,Benign,\N,intron_variant,2.724,0.006,1KG_EUR_AF,COL4A4
469436,2:227956436:C>G,NM_000092.4:c.1370-1763G>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.165,\N,\N,COL4A4
469437,2:227956476:G>A,NM_000092.4:c.1370-1803C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.33,\N,\N,COL4A4
469438,2:227956482:C>T,NM_000092.4:c.1370-1809G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.037,0.001,1KG_EUR_AF,COL4A4
469439,2:227956483:G>A,NM_000092.4:c.1370-1810C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.443,\N,\N,COL4A4
469440,2:227956601:C>T,NM_000092.4:c.1370-1928G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,1.89,0.004,1KG_EUR_AF,COL4A4
469441,2:227956615:G>GA,NM_000092.4:c.1370-1943dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469442,2:227956622:G>A,NM_000092.4:c.1370-1949C>T,\N,\N,20/47,Benign,\N,intron_variant,0.946,0.6564,1KG_SAS_AF,COL4A4
469443,2:227956622:GAAAG>A,NM_000092.4:c.1370-1953_1370-1949delinsT,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469444,2:227956626:G>A,NM_000092.4:c.1370-1953C>T,\N,\N,20/47,Benign,\N,intron_variant,1.319,0.3599,1KG_SAS_AF,COL4A4
469445,2:227956630:GAAA>G,NM_000092.4:c.1370-1960_1370-1958del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469446,2:227956630:GAAAGAAAGAAAGA>G,NM_000092.4:c.1370-1970_1370-1958del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469447,2:227956634:G>GAAAGAAAGA,NM_000092.4:c.1370-1970_1370-1962dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469448,2:227956634:GAAAGA>G,NM_000092.4:c.1370-1966_1370-1962del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469449,2:227956634:GAAAGAAAGA>G,NM_000092.4:c.1370-1970_1370-1962del,\N,\N,20/47,Benign,\N,intron_variant,0.24,0.6853,1KG_AFR_AF,COL4A4
469450,2:227956638:G>GA,NM_000092.4:c.1370-1966dup,\N,\N,20/47,Unknown significance,\N,intron_variant,0.475,\N,\N,COL4A4
469451,2:227956638:G>GAAAAGA,NM_000092.4:c.1370-1966_1370-1965insTCTTTT,\N,\N,20/47,Unknown significance,\N,intron_variant,0.303,\N,\N,COL4A4
469452,2:227956638:GAAAGA>G,NM_000092.4:c.1370-1970_1370-1966del,\N,\N,20/47,Unknown significance,\N,intron_variant,0.3,\N,\N,COL4A4
469453,2:227956642:G>A,NM_000092.4:c.1370-1969C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.62,\N,\N,COL4A4
469454,2:227956642:GA>G,NM_000092.4:c.1370-1970del,\N,\N,20/47,Unknown significance,\N,intron_variant,0.195,\N,\N,COL4A4
469455,2:227956642:GAAAAG>T,NM_000092.4:c.1370-1974_1370-1969delinsA,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469456,2:227956643:A>G,NM_000092.4:c.1370-1970T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,0.634,\N,\N,COL4A4
469457,2:227956659:AAAGAA>C,NM_000092.4:c.1370-1991_1370-1986delinsG,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469458,2:227956664:A>C,NM_000092.4:c.1370-1991T>G,\N,\N,20/47,Benign,\N,intron_variant,0.018,0.5735,1KG_AMR_AF,COL4A4
469459,2:227956673:A>T,NM_000092.4:c.1370-2000T>A,\N,\N,20/47,Benign,\N,intron_variant,1.191,0.0072,1KG_AMR_AF,COL4A4
469460,2:227956757:T>A,NM_000092.4:c.1369+2084A>T,\N,\N,20/47,Unknown significance,\N,intron_variant,6.641,0.0015,1KG_AFR_AF,COL4A4
469461,2:227956770:C>T,NM_000092.4:c.1369+2071G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.473,0.0008,1KG_AFR_AF,COL4A4
469462,2:227956782:C>A,NM_000092.4:c.1369+2059G>T,\N,\N,20/47,Benign,\N,intron_variant,0.946,0.0119,1KG_EAS_AF,COL4A4
469463,2:227956783:A>C,NM_000092.4:c.1369+2058T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.054,\N,\N,COL4A4
469464,2:227956786:A>C,NM_000092.4:c.1369+2055T>G,\N,\N,20/47,Benign,\N,intron_variant,0.43,0.0219,1KG_AFR_AF,COL4A4
469465,2:227956791:A>G,NM_000092.4:c.1369+2050T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.777,0.0008,1KG_AFR_AF,COL4A4
469466,2:227956798:C>T,NM_000092.4:c.1369+2043G>A,\N,\N,20/47,Benign,\N,intron_variant,6.808,0.1944,1KG_EAS_AF,COL4A4
469467,2:227956914:A>G,NM_000092.4:c.1369+1927T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,1.688,\N,\N,COL4A4
469468,2:227956921:G>A,NM_000092.4:c.1369+1920C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.628,\N,\N,COL4A4
469469,2:227956922:G>A,NM_000092.4:c.1369+1919C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.073,\N,\N,COL4A4
469470,2:227956923:G>A,NM_000092.4:c.1369+1918C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.1,\N,\N,COL4A4
469471,2:227956966:A>C,NM_000092.4:c.1369+1875T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.078,0.0008,1KG_AFR_AF,COL4A4
469472,2:227956998:T>C,NM_000092.4:c.1369+1843A>G,\N,\N,20/47,Benign,\N,intron_variant,1.819,0.0058,1KG_AMR_AF,COL4A4
469473,2:227957010:G>T,NM_000092.4:c.1369+1831C>A,\N,\N,20/47,Benign,\N,intron_variant,0.652,0.0098,1KG_AFR_AF,COL4A4
469474,2:227957013:C>T,NM_000092.4:c.1369+1828G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.743,\N,\N,COL4A4
469475,2:227957024:G>T,NM_000092.4:c.1369+1817C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.025,\N,\N,COL4A4
469476,2:227957098:G>T,NM_000092.4:c.1369+1743C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.719,0.0023,1KG_AFR_AF,COL4A4
469477,2:227957107:G>A,NM_000092.4:c.1369+1734C>T,\N,\N,20/47,Benign,\N,intron_variant,6.627,0.0106,1KG_AFR_AF,COL4A4
469478,2:227957159:C>A,NM_000092.4:c.1369+1682G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,5.326,0.001,1KG_EAS_AF,COL4A4
469479,2:227957200:G>A,NM_000092.4:c.1369+1641C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,5.741,0.002,1KG_SAS_AF,COL4A4
469480,2:227957227:G>A,NM_000092.4:c.1369+1614C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.36,0.001,1KG_EUR_AF,COL4A4
469481,2:227957233:G>A,NM_000092.4:c.1369+1608C>T,\N,\N,20/47,Benign,\N,intron_variant,1.901,0.0106,1KG_AFR_AF,COL4A4
469482,2:227957238:T>A,NM_000092.4:c.1369+1603A>T,\N,\N,20/47,Unknown significance,\N,intron_variant,10.52,\N,\N,COL4A4
469483,2:227957275:GT>G,NM_000092.4:c.1369+1565del,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469484,2:227957282:T>C,NM_000092.4:c.1369+1559A>G,\N,\N,20/47,Benign,\N,intron_variant,0.473,0.006,1KG_EAS_AF,COL4A4
469485,2:227957378:G>C,NM_000092.4:c.1369+1463C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.055,\N,\N,COL4A4
469486,2:227957392:G>C,NM_000092.4:c.1369+1449C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.579,0.001,1KG_EUR_AF,COL4A4
469487,2:227957444:T>A,NM_000092.4:c.1369+1397A>T,\N,\N,20/47,Unknown significance,\N,intron_variant,7.097,0.0023,1KG_AFR_AF,COL4A4
469488,2:227957447:C>T,NM_000092.4:c.1369+1394G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,7.375,\N,\N,COL4A4
469489,2:227957483:G>C,NM_000092.4:c.1369+1358C>G,\N,\N,20/47,Benign,\N,intron_variant,0.288,0.9024,1KG_AFR_AF,COL4A4
469490,2:227957532:G>A,NM_000092.4:c.1369+1309C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,3.003,\N,\N,COL4A4
469491,2:227957540:C>T,NM_000092.4:c.1369+1301G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.046,\N,\N,COL4A4
469492,2:227957541:G>A,NM_000092.4:c.1369+1300C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.511,\N,\N,COL4A4
469493,2:227957544:T>C,NM_000092.4:c.1369+1297A>G,\N,\N,20/47,Benign,\N,intron_variant,2.345,0.0092,1KG_SAS_AF,COL4A4
469494,2:227957550:G>T,NM_000092.4:c.1369+1291C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.724,\N,\N,COL4A4
469495,2:227957562:A>G,NM_000092.4:c.1369+1279T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,0.946,\N,\N,COL4A4
469496,2:227957579:C>T,NM_000092.4:c.1369+1262G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.235,\N,\N,COL4A4
469497,2:227957580:G>A,NM_000092.4:c.1369+1261C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,0.128,0.0043,1KG_AMR_AF,COL4A4
469498,2:227957584:A>AG,NM_000092.4:c.1369+1256dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469499,2:227957610:T>TG,NM_000092.4:c.1369+1230dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469500,2:227957614:A>C,NM_000092.4:c.1369+1227T>G,\N,\N,20/47,Benign,\N,intron_variant,1.523,0.2042,1KG_AFR_AF,COL4A4
469501,2:227957631:A>G,NM_000092.4:c.1369+1210T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.57,0.001,1KG_EUR_AF,COL4A4
469502,2:227957642:T>C,NM_000092.4:c.1369+1199A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.09,\N,\N,COL4A4
469503,2:227957657:G>A,NM_000092.4:c.1369+1184C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,1.469,\N,\N,COL4A4
469504,2:227957657:G>C,NM_000092.4:c.1369+1184C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.281,0.001,1KG_EAS_AF,COL4A4
469505,2:227957707:G>C,NM_000092.4:c.1369+1134C>G,\N,\N,20/47,Benign,\N,intron_variant,0.107,0.0219,1KG_AFR_AF,COL4A4
469506,2:227957721:G>T,NM_000092.4:c.1369+1120C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,6.414,0.0014,1KG_AMR_AF,COL4A4
469507,2:227957767:A>C,NM_000092.4:c.1369+1074T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,2.51,\N,\N,COL4A4
469508,2:227957849:C>G,NM_000092.4:c.1369+992G>C,\N,\N,20/47,Unknown significance,\N,intron_variant,1.357,\N,\N,COL4A4
469509,2:227957870:T>C,NM_000092.4:c.1369+971A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.774,\N,\N,COL4A4
469510,2:227957875:C>T,NM_000092.4:c.1369+966G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.46,0.0008,1KG_AFR_AF,COL4A4
469511,2:227957952:A>G,NM_000092.4:c.1369+889T>C,\N,\N,20/47,Benign,\N,intron_variant,1.73,0.0804,1KG_EAS_AF,COL4A4
469512,2:227957973:C>T,NM_000092.4:c.1369+868G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.161,0.001,1KG_EAS_AF,COL4A4
469513,2:227957989:A>G,NM_000092.4:c.1369+852T>C,\N,\N,20/47,Benign,\N,intron_variant,0.867,0.0741,1KG_AFR_AF,COL4A4
469514,2:227958006:T>TAAACA,NM_000092.4:c.1369+830_1369+834dup,\N,\N,20/47,Unknown significance,\N,intron_variant,2.072,0.003,1KG_EAS_AF,COL4A4
469515,2:227958006:TAAACA>T,NM_000092.4:c.1369+830_1369+834del,\N,\N,20/47,Unknown significance,\N,intron_variant,8.161,\N,\N,COL4A4
469516,2:227958006:TAAACAAAACA>T,NM_000092.4:c.1369+825_1369+834del,\N,\N,20/47,Benign,\N,intron_variant,7.614,0.0072,1KG_AMR_AF,COL4A4
469517,2:227958076:A>G,NM_000092.4:c.1369+765T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.901,\N,\N,COL4A4
469518,2:227958084:C>T,NM_000092.4:c.1369+757G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,5.895,\N,\N,COL4A4
469519,2:227958102:G>A,NM_000092.4:c.1369+739C>T,\N,\N,20/47,Benign,\N,intron_variant,6.377,0.2897,1KG_AFR_AF,COL4A4
469520,2:227958103:G>T,NM_000092.4:c.1369+738C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.327,\N,\N,COL4A4
469521,2:227958107:C>A,NM_000092.4:c.1369+734G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,4.235,\N,\N,COL4A4
469522,2:227958200:G>A,NM_000092.4:c.1369+641C>T,\N,\N,20/47,Benign,\N,intron_variant,0.185,0.0242,1KG_AFR_AF,COL4A4
469523,2:227958214:G>A,NM_000092.4:c.1369+627C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,4.766,0.002,1KG_SAS_AF,COL4A4
469524,2:227958237:C>T,NM_000092.4:c.1369+604G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,5.62,\N,\N,COL4A4
469525,2:227958255:C>T,NM_000092.4:c.1369+586G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,2.44,\N,\N,COL4A4
469526,2:227958262:C>A,NM_000092.4:c.1369+579G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,3.138,\N,\N,COL4A4
469527,2:227958320:C>T,NM_000092.4:c.1369+521G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,5.706,\N,\N,COL4A4
469528,2:227958326:C>G,NM_000092.4:c.1369+515G>C,\N,\N,20/47,Benign,\N,intron_variant,5.606,0.0209,1KG_EUR_AF,COL4A4
469529,2:227958344:A>G,NM_000092.4:c.1369+497T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,4.293,0.0014,1KG_AMR_AF,COL4A4
469530,2:227958355:A>C,NM_000092.4:c.1369+486T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.319,0.003,1KG_EUR_AF,COL4A4
469531,2:227958360:A>G,NM_000092.4:c.1369+481T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.279,\N,\N,COL4A4
469532,2:227958389:A>T,NM_000092.4:c.1369+452T>A,\N,\N,20/47,Benign,\N,intron_variant,0.707,0.0129,1KG_EAS_AF,COL4A4
469533,2:227958395:A>T,NM_000092.4:c.1369+446T>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.587,0.0015,1KG_AFR_AF,COL4A4
469534,2:227958401:A>T,NM_000092.4:c.1369+440T>A,\N,\N,20/47,Benign,\N,intron_variant,0.503,0.0099,1KG_EAS_AF,COL4A4
469535,2:227958406:A>T,NM_000092.4:c.1369+435T>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.573,0.0038,1KG_AFR_AF,COL4A4
469536,2:227958410:A>T,NM_000092.4:c.1369+431T>A,\N,\N,20/47,Benign,\N,intron_variant,0.544,0.0089,1KG_EAS_AF,COL4A4
469537,2:227958413:A>T,NM_000092.4:c.1369+428T>A,\N,\N,20/47,Benign,\N,intron_variant,0.813,0.0079,1KG_EAS_AF,COL4A4
469538,2:227958437:T>C,NM_000092.4:c.1369+404A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,7.539,0.0008,1KG_AFR_AF,COL4A4
469539,2:227958444:T>C,NM_000092.4:c.1369+397A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,11.32,0.0008,1KG_AFR_AF,COL4A4
469540,2:227958465:T>C,NM_000092.4:c.1369+376A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,11.54,0.0014,1KG_AMR_AF,COL4A4
469541,2:227958469:C>T,NM_000092.4:c.1369+372G>A,\N,\N,20/47,Benign,\N,intron_variant,11.18,0.6297,1KG_AMR_AF,COL4A4
469542,2:227958475:C>G,NM_000092.4:c.1369+366G>C,\N,\N,20/47,Unknown significance,\N,intron_variant,11.21,0.002,1KG_SAS_AF,COL4A4
469543,2:227958488:C>T,NM_000092.4:c.1369+353G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,7.445,0.0029,1KG_AMR_AF,COL4A4
469544,2:227958491:C>A,NM_000092.4:c.1369+350G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,4.305,\N,\N,COL4A4
469545,2:227958497:C>T,NM_000092.4:c.1369+344G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.064,0.0008,1KG_AFR_AF,COL4A4
469546,2:227958505:C>T,NM_000092.4:c.1369+336G>A,\N,\N,20/47,Benign,\N,intron_variant,1.647,0.3018,1KG_AFR_AF,COL4A4
469547,2:227958517:G>A,NM_000092.4:c.1369+324C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.528,\N,\N,COL4A4
469548,2:227958519:C>T,NM_000092.4:c.1369+322G>A,\N,\N,20/47,Unknown significance,\N,intron_variant,3.371,\N,\N,COL4A4
469549,2:227958520:A>C,NM_000092.4:c.1369+321T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.226,0.0014,1KG_AMR_AF,COL4A4
469550,2:227958540:C>T,NM_000092.4:c.1369+301G>A,\N,\N,20/47,Benign,\N,intron_variant,1.134,0.044,1KG_SAS_AF,COL4A4
469551,2:227958544:C>A,NM_000092.4:c.1369+297G>T,\N,\N,20/47,Benign,\N,intron_variant,2.694,0.1611,1KG_AFR_AF,COL4A4
469552,2:227958620:A>G,NM_000092.4:c.1369+221T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,2.214,\N,\N,COL4A4
469553,2:227958652:A>G,NM_000092.4:c.1369+189T>C,\N,\N,20/47,Benign,\N,intron_variant,5.269,0.0938,1KG_AFR_AF,COL4A4
469554,2:227958686:C>A,NM_000092.4:c.1369+155G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.387,\N,\N,COL4A4
469555,2:227958695:GTTTA>G,NM_000092.4:c.1369+142_1369+145del,\N,\N,20/47,Unknown significance,\N,intron_variant,6.956,\N,\N,COL4A4
469556,2:227958709:A>G,NM_000092.4:c.1369+132T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,4.596,\N,\N,COL4A4
469557,2:227958713:G>C,NM_000092.4:c.1369+128C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.694,\N,\N,COL4A4
469558,2:227958746:C>A,NM_000092.4:c.1369+95G>T,\N,\N,20/47,Unknown significance,\N,intron_variant,4.583,0.001,1KG_EUR_AF,COL4A4
469559,2:227958761:A>T,NM_000092.4:c.1369+80T>A,\N,\N,20/47,Benign,\N,intron_variant,1.087,0.1256,1KG_AFR_AF,COL4A4
469560,2:227958790:A>G,NM_000092.4:c.1369+51T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,8.147,0.000233481,EXAC_EAS_AF,COL4A4
469561,2:227958791:A>G,NM_000092.4:c.1369+50T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,7.623,0.0000607386,EXAC_SAS_AF,COL4A4
469562,2:227958797:A>C,NM_000092.4:c.1369+44T>G,\N,\N,20/47,Unknown significance,\N,intron_variant,6.23,0.0000607312,EXAC_SAS_AF,COL4A4
469563,2:227958798:A>G,NM_000092.4:c.1369+43T>C,\N,\N,20/47,Unknown significance,\N,intron_variant,5.577,0.0000868357,EXAC_AMR_AF,COL4A4
469564,2:227958800:G>A,NM_000092.4:c.1369+41C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,4.39,0.000116741,EXAC_EAS_AF,COL4A4
469565,2:227958806:T>C,NM_000092.4:c.1369+35A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,2.477,0.0000607312,EXAC_SAS_AF,COL4A4
469566,2:227958816:T>C,NM_000092.4:c.1369+25A>G,\N,\N,20/47,Unknown significance,\N,intron_variant,1.325,0.000320787,EXAC_AFR_AF,COL4A4
469567,2:227958821:A>T,NM_000092.4:c.1369+20T>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.359,0.0000305418,EXAC_NFE_AF,COL4A4
469568,2:227958823:G>A,NM_000092.4:c.1369+18C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.244,0.0000868206,EXAC_AMR_AF,COL4A4
469569,2:227958823:G>T,NM_000092.4:c.1369+18C>A,\N,\N,20/47,Unknown significance,\N,intron_variant,0.728,0.000015269,EXAC_NFE_AF,COL4A4
469570,2:227958826:TAAG>T,NM_000092.4:c.1369+12_1369+14del,\N,\N,20/47,Unknown significance,\N,intron_variant,7.059,0.0000152639,EXAC_NFE_AF,COL4A4
469571,2:227958828:A>AG,NM_000092.4:c.1369+12dup,\N,\N,20/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469572,2:227958829:G>A,NM_000092.4:c.1369+12C>T,\N,\N,20/47,Unknown significance,\N,intron_variant,2.886,0.0000152537,EXAC_NFE_AF,COL4A4
469573,2:227958830:G>C,NM_000092.4:c.1369+11C>G,\N,\N,20/47,Unknown significance,\N,intron_variant,0.399,0.0000152504,EXAC_NFE_AF,COL4A4
469574,2:227958835:C>T,NM_000092.4:c.1369+6G>A,\N,\N,20/47,Unknown significance,\N,splice_region_variant&intron_variant,3.876,\N,\N,COL4A4
469575,2:227958845:T>C,NM_000092.4:c.1365A>G,NP_000083.3:p.Ser455=,20/48,\N,Unknown significance,\N,synonymous_variant,0.231,0.001,1KG_EUR_AF,COL4A4
469576,2:227958852:G>C,NM_000092.4:c.1358C>G,NP_000083.3:p.Pro453Arg,20/48,\N,Unknown significance,\N,missense_variant,23.2,0.0000304035,EXAC_NFE_AF,COL4A4
469577,2:227958857:G>A,NM_000092.4:c.1353C>T,NP_000083.3:p.Gly451=,20/48,\N,Unknown significance,\N,synonymous_variant,8.869,0.002,1KG_EAS_AF,COL4A4
469578,2:227958859:C>T,NM_000092.4:c.1351G>A,NP_000083.3:p.Gly451Ser,20/48,\N,Pathogenic,Alport syndrome,missense_variant,25.6,\N,\N,COL4A4
469579,2:227958860:C>G,NM_000092.4:c.1350G>C,NP_000083.3:p.Gln450His,20/48,\N,Likely benign,\N,missense_variant,19.54,0.000015187,EXAC_NFE_AF,COL4A4
469580,2:227958862:G>C,NM_000092.4:c.1348C>G,NP_000083.3:p.Gln450Glu,20/48,\N,Likely benign,\N,missense_variant,0.028,0.0000151819,EXAC_NFE_AF,COL4A4
469581,2:227958863:C>T,NM_000092.4:c.1347G>A,NP_000083.3:p.Leu449=,20/48,\N,Unknown significance,\N,synonymous_variant,8.919,0.0000151773,EXAC_NFE_AF,COL4A4
469582,2:227958868:C>T,NM_000092.4:c.1342G>A,NP_000083.3:p.Gly448Ser,20/48,\N,Pathogenic,Microhaematuria and proteinuria,missense_variant,25.6,\N,\N,COL4A4
469583,2:227958869:TGGTGCTCCAGGCAAGCCA>T,NM_000092.4:c.1323_1340del,NP_000083.3:p.Pro444_Leu449del,20/48,\N,Pathogenic,Alport syndrome,inframe_deletion,16.98,\N,\N,COL4A4
469584,2:227958876:C>G,NM_000092.4:c.1334G>C,NP_000083.3:p.Gly445Ala,20/48,\N,Unknown significance,\N,missense_variant,23.4,0.001,1KG_EUR_AF,COL4A4
469585,2:227958884:G>A,NM_000092.4:c.1326C>T,NP_000083.3:p.Gly442=,20/48,\N,Unknown significance,\N,synonymous_variant,8.181,0.00012219,EVS_EA_AF,COL4A4
469586,2:227958887:A>G,NM_000092.4:c.1323T>C,NP_000083.3:p.Pro441=,20/48,\N,Benign,\N,synonymous_variant,0.414,0.0552,1KG_AFR_AF,COL4A4
469587,2:227958894:C>G,NM_000092.4:c.1316G>C,NP_000083.3:p.Gly439Ala,20/48,\N,Unknown significance,\N,missense_variant,24.9,0.0000151534,EXAC_NFE_AF,COL4A4
469588,2:227958897:G>A,NM_000092.4:c.1313C>T,NP_000083.3:p.Pro438Leu,20/48,\N,Unknown significance,\N,missense_variant,23.2,0.001,1KG_EAS_AF,COL4A4
469589,2:227958899:CTTCCCTGGTTTTCCTGGA>C,NM_000092.4:c.1293_1310del,NP_000083.3:p.Lys434_Gly439del,20/48,\N,Pathogenic,Alport syndrome,inframe_deletion,\N,\N,\N,COL4A4
469590,2:227958918:G>A,NM_000092.4:c.1292C>T,NP_000083.3:p.Ala431Val,20/48,\N,Likely benign,\N,missense_variant,23,0.00027115,EVS_AA_AF,COL4A4
469591,2:227958927:G>T,NM_000092.4:c.1283C>A,NP_000083.3:p.Pro428His,20/48,\N,Likely benign,\N,missense_variant,21.5,\N,\N,COL4A4
469592,2:227958932:C>T,NM_000092.4:c.1278G>A,NP_000083.3:p.Gly426=,20/48,\N,Unknown significance,\N,synonymous_variant,13.61,0.0000608347,EXAC_SAS_AF,COL4A4
469593,2:227958934:C>T,NM_000092.4:c.1276G>A,NP_000083.3:p.Gly426Arg,20/48,\N,Unknown significance,\N,missense_variant,31,0.001,1KG_SAS_AF,COL4A4
469594,2:227958935:A>T,NM_000092.4:c.1275T>A,NP_000083.3:p.Pro425=,20/48,\N,Unknown significance,\N,synonymous_variant,0.89,0.0000608273,EXAC_SAS_AF,COL4A4
469595,2:227958937:G>A,NM_000092.4:c.1273C>T,NP_000083.3:p.Pro425Ser,20/48,\N,Unknown significance,\N,missense_variant,26.2,0.000122519,EVS_EA_AF,COL4A4
469596,2:227958939:A>C,NM_000092.4:c.1271T>G,NP_000083.3:p.Ile424Ser,20/48,\N,Likely benign,\N,missense_variant,11.6,0.0000151644,EXAC_NFE_AF,COL4A4
469597,2:227958940:T>C,NM_000092.4:c.1270A>G,NP_000083.3:p.Ile424Val,20/48,\N,Likely benign,\N,missense_variant,0.007,0.000103008,EXAC_AFR_AF,COL4A4
469598,2:227958948:T>A,NM_000092.4:c.1262A>T,NP_000083.3:p.Glu421Val,20/48,\N,Likely benign,\N,missense_variant,0.561,0.0000151777,EXAC_NFE_AF,COL4A4
469599,2:227958953:TGGAAGCCCA>T,NM_000092.4:c.1248_1256del,NP_000083.3:p.Leu418_Gly420del,20/48,\N,Unknown significance,\N,inframe_deletion,15.08,\N,\N,COL4A4
469600,2:227958962:A>C,NM_000092.4:c.1248T>G,NP_000083.3:p.Pro416=,20/48,\N,Unknown significance,\N,synonymous_variant,0.017,\N,\N,COL4A4
469601,2:227958964:G>C,NM_000092.4:c.1246C>G,NP_000083.3:p.Pro416Ala,20/48,\N,Unknown significance,\N,missense_variant,21.3,0.000543183,EVS_AA_AF,COL4A4
469602,2:227958970:C>G,NM_000092.4:c.1240G>C,NP_000083.3:p.Gly414Arg,20/48,\N,Unknown significance,\N,missense_variant,28.2,0.000122369,EVS_EA_AF,COL4A4
469603,2:227958975:A>C,NM_000092.4:c.1235T>G,NP_000083.3:p.Phe412Cys,20/48,\N,Unknown significance,\N,missense_variant,22.5,0.0000881679,EXAC_AMR_AF,COL4A4
469604,2:227958979:C>T,NM_000092.4:c.1231G>A,NP_000083.3:p.Gly411Arg,20/48,\N,Unknown significance,\N,missense_variant,32,0.0000153008,EXAC_NFE_AF,COL4A4
469605,2:227958981:T>C,NM_000092.4:c.1229A>G,NP_000083.3:p.Gln410Arg,20/48,\N,Likely benign,\N,missense_variant,0.01,0.000103885,EXAC_AFR_AF,COL4A4
469606,2:227958984:G>A,NM_000092.4:c.1226C>T,NP_000083.3:p.Pro409Leu,20/48,\N,Likely benign,\N,missense_variant,22.8,0.0000153799,EXAC_NFE_AF,COL4A4
469607,2:227958985:G>A,NM_000092.4:c.1225C>T,NP_000083.3:p.Pro409Ser,20/48,\N,Likely benign,\N,missense_variant,18.09,0.000123365,EXAC_SAS_AF,COL4A4
469608,2:227958986:C>T,NM_000092.4:c.1224G>A,NP_000083.3:p.Gly408=,20/48,\N,Unknown significance,\N,synonymous_variant,13.97,0.000123594,EXAC_SAS_AF,COL4A4
469609,2:227958991:G>A,NM_000092.4:c.1219C>T,NP_000083.3:p.Pro407Ser,20/48,\N,Unknown significance,\N,missense_variant,22.8,0.0000620194,EXAC_SAS_AF,COL4A4
469610,2:227958992:G>A,NM_000092.4:c.1218C>T,NP_000083.3:p.Pro406=,20/48,\N,Unknown significance,\N,synonymous_variant,10.6,0.0000155164,EXAC_NFE_AF,COL4A4
469611,2:227958993:G>A,NM_000092.4:c.1217C>T,NP_000083.3:p.Pro406Leu,20/48,\N,Unknown significance,\N,missense_variant,24.1,0.0000621813,EXAC_NFE_AF,COL4A4
469612,2:227958993:G>C,NM_000092.4:c.1217C>G,NP_000083.3:p.Pro406Arg,20/48,\N,Unknown significance,\N,missense_variant,23,0.0000310907,EXAC_NFE_AF,COL4A4
469613,2:227958994:G>A,NM_000092.4:c.1216C>T,NP_000083.3:p.Pro406Ser,20/48,\N,Unknown significance,\N,missense_variant,23.5,0.0000905633,EXAC_AMR_AF,COL4A4
469614,2:227959005:C>A,NM_000092.4:c.1205G>T,NP_000083.3:p.Gly402Val,20/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.1,0.0008,1KG_AFR_AF,COL4A4
469615,2:227959005:C>T,NM_000092.4:c.1205G>A,NP_000083.3:p.Gly402Asp,20/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.7,0.0000809481,EXAC_NFE_AF,COL4A4
469616,2:227959008:GCAAGATAAAT>G,NM_000092.4:c.1205-13_1205-4del,\N,\N,19/47,Unknown significance,\N,splice_region_variant&intron_variant,19.69,0.0000164739,EXAC_NFE_AF,COL4A4
469617,2:227959014:T>C,NM_000092.4:c.1205-9A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,13.58,0.00125313,EXAC_OTH_AF,COL4A4
469618,2:227959034:C>T,NM_000092.4:c.1205-29G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,5.774,0.0000191593,EXAC_NFE_AF,COL4A4
469619,2:227959038:T>C,NM_000092.4:c.1205-33A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,7.058,0.0000193768,EXAC_NFE_AF,COL4A4
469620,2:227959039:A>G,NM_000092.4:c.1205-34T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,7.737,0.0000196271,EXAC_NFE_AF,COL4A4
469621,2:227959040:C>T,NM_000092.4:c.1205-35G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,9.094,0.000286164,EXAC_SAS_AF,COL4A4
469622,2:227959044:C>T,NM_000092.4:c.1205-39G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,12.11,\N,\N,COL4A4
469623,2:227959053:C>T,NM_000092.4:c.1205-48G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.441,0.000271297,EVS_AA_AF,COL4A4
469624,2:227959054:G>A,NM_000092.4:c.1205-49C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,5.469,0.0000766989,EXAC_SAS_AF,COL4A4
469625,2:227959055:T>A,NM_000092.4:c.1205-50A>T,\N,\N,19/47,Unknown significance,\N,intron_variant,8.139,0.0014,1KG_AMR_AF,COL4A4
469626,2:227959085:A>C,NM_000092.4:c.1205-80T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.569,0.0008,1KG_AFR_AF,COL4A4
469627,2:227959086:C>G,NM_000092.4:c.1205-81G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.472,0.0015,1KG_AFR_AF,COL4A4
469628,2:227959090:C>G,NM_000092.4:c.1205-85G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.158,\N,\N,COL4A4
469629,2:227959100:C>T,NM_000092.4:c.1205-95G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.027,0.002,1KG_EAS_AF,COL4A4
469630,2:227959101:G>A,NM_000092.4:c.1205-96C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,4.305,0.0014,1KG_AMR_AF,COL4A4
469631,2:227959116:A>T,NM_000092.4:c.1205-111T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,4.633,0.0008,1KG_AFR_AF,COL4A4
469632,2:227959123:C>T,NM_000092.4:c.1205-118G>A,\N,\N,19/47,Benign,\N,intron_variant,1.435,0.0514,1KG_AFR_AF,COL4A4
469633,2:227959127:G>A,NM_000092.4:c.1205-122C>T,\N,\N,19/47,Benign,\N,intron_variant,2.682,0.056,1KG_AFR_AF,COL4A4
469634,2:227959140:A>T,NM_000092.4:c.1205-135T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.778,0.001,1KG_EUR_AF,COL4A4
469635,2:227959170:G>T,NM_000092.4:c.1205-165C>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.12,\N,\N,COL4A4
469636,2:227959206:A>G,NM_000092.4:c.1205-201T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.458,0.001,1KG_EAS_AF,COL4A4
469637,2:227959237:G>A,NM_000092.4:c.1205-232C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,2.104,0.001,1KG_EAS_AF,COL4A4
469638,2:227959249:C>T,NM_000092.4:c.1205-244G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.347,0.001,1KG_SAS_AF,COL4A4
469639,2:227959261:G>T,NM_000092.4:c.1205-256C>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.987,0.0008,1KG_AFR_AF,COL4A4
469640,2:227959296:C>T,NM_000092.4:c.1205-291G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.718,\N,\N,COL4A4
469641,2:227959306:G>A,NM_000092.4:c.1205-301C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.846,\N,\N,COL4A4
469642,2:227959347:G>A,NM_000092.4:c.1205-342C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.811,0.0023,1KG_AFR_AF,COL4A4
469643,2:227959365:A>G,NM_000092.4:c.1205-360T>C,\N,\N,19/47,Benign,\N,intron_variant,1.699,0.1536,1KG_AFR_AF,COL4A4
469644,2:227959368:A>G,NM_000092.4:c.1205-363T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.724,0.002,1KG_SAS_AF,COL4A4
469645,2:227959371:A>G,NM_000092.4:c.1205-366T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.582,\N,\N,COL4A4
469646,2:227959396:G>C,NM_000092.4:c.1205-391C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.176,0.0008,1KG_AFR_AF,COL4A4
469647,2:227959430:C>T,NM_000092.4:c.1205-425G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,4.899,0.004,1KG_EUR_AF,COL4A4
469648,2:227959431:C>T,NM_000092.4:c.1205-426G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,6.098,0.001,1KG_EAS_AF,COL4A4
469649,2:227959496:C>T,NM_000092.4:c.1205-491G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.236,0.003,1KG_AFR_AF,COL4A4
469650,2:227959501:T>C,NM_000092.4:c.1205-496A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.987,\N,\N,COL4A4
469651,2:227959526:G>C,NM_000092.4:c.1205-521C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.267,0.001,1KG_EUR_AF,COL4A4
469652,2:227959637:A>C,NM_000092.4:c.1205-632T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.077,0.001,1KG_SAS_AF,COL4A4
469653,2:227959644:C>T,NM_000092.4:c.1205-639G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.263,\N,\N,COL4A4
469654,2:227959656:A>G,NM_000092.4:c.1205-651T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.687,0.001,1KG_SAS_AF,COL4A4
469655,2:227959664:C>G,NM_000092.4:c.1205-659G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.198,0.001,1KG_SAS_AF,COL4A4
469656,2:227959669:C>T,NM_000092.4:c.1205-664G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.085,0.001,1KG_EUR_AF,COL4A4
469657,2:227959670:G>A,NM_000092.4:c.1205-665C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.623,0.0008,1KG_AFR_AF,COL4A4
469658,2:227959701:C>T,NM_000092.4:c.1205-696G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.336,\N,\N,COL4A4
469659,2:227959712:G>A,NM_000092.4:c.1205-707C>T,\N,\N,19/47,Benign,\N,intron_variant,0.231,0.0058,1KG_AMR_AF,COL4A4
469660,2:227959718:A>C,NM_000092.4:c.1205-713T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.62,\N,\N,COL4A4
469661,2:227959728:A>G,NM_000092.4:c.1205-723T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,5.723,\N,\N,COL4A4
469662,2:227959788:T>G,NM_000092.4:c.1205-783A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.38,\N,\N,COL4A4
469663,2:227959825:CT>C,NM_000092.4:c.1205-821del,\N,\N,19/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469664,2:227959827:T>G,NM_000092.4:c.1205-822A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.576,0.001,1KG_SAS_AF,COL4A4
469665,2:227959834:A>C,NM_000092.4:c.1205-829T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.004,\N,\N,COL4A4
469666,2:227959841:AG>A,NM_000092.4:c.1205-837del,\N,\N,19/47,Unknown significance,\N,intron_variant,0.948,\N,\N,COL4A4
469667,2:227959843:G>C,NM_000092.4:c.1205-838C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.175,\N,\N,COL4A4
469668,2:227959848:T>C,NM_000092.4:c.1205-843A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.483,\N,\N,COL4A4
469669,2:227959925:T>C,NM_000092.4:c.1205-920A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.904,\N,\N,COL4A4
469670,2:227959935:C>T,NM_000092.4:c.1205-930G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.087,\N,\N,COL4A4
469671,2:227959950:A>G,NM_000092.4:c.1205-945T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.856,\N,\N,COL4A4
469672,2:227959951:G>T,NM_000092.4:c.1205-946C>A,\N,\N,19/47,Benign,\N,intron_variant,0.263,0.0061,1KG_AFR_AF,COL4A4
469673,2:227959973:G>A,NM_000092.4:c.1205-968C>T,\N,\N,19/47,Benign,\N,intron_variant,2.38,0.8321,1KG_AFR_AF,COL4A4
469674,2:227959991:C>T,NM_000092.4:c.1205-986G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,5.062,0.002,1KG_SAS_AF,COL4A4
469675,2:227960003:T>A,NM_000092.4:c.1205-998A>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.766,0.0008,1KG_AFR_AF,COL4A4
469676,2:227960018:C>A,NM_000092.4:c.1205-1013G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.493,0.0008,1KG_AFR_AF,COL4A4
469677,2:227960058:T>C,NM_000092.4:c.1205-1053A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.284,\N,\N,COL4A4
469678,2:227960072:T>C,NM_000092.4:c.1205-1067A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.323,\N,\N,COL4A4
469679,2:227960081:G>A,NM_000092.4:c.1205-1076C>T,\N,\N,19/47,Benign,\N,intron_variant,2.062,0.0076,1KG_AFR_AF,COL4A4
469680,2:227960108:T>C,NM_000092.4:c.1205-1103A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,2.96,\N,\N,COL4A4
469681,2:227960118:G>A,NM_000092.4:c.1205-1113C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.979,\N,\N,COL4A4
469682,2:227960125:T>C,NM_000092.4:c.1205-1120A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,3.297,\N,\N,COL4A4
469683,2:227960257:C>A,NM_000092.4:c.1205-1252G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.723,\N,\N,COL4A4
469684,2:227960261:A>G,NM_000092.4:c.1205-1256T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,8.124,0.0008,1KG_AFR_AF,COL4A4
469685,2:227960291:C>T,NM_000092.4:c.1205-1286G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,5.47,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
469686,2:227960316:AT>A,NM_000092.4:c.1205-1312del,\N,\N,19/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469687,2:227960336:C>G,NM_000092.4:c.1205-1331G>C,\N,\N,19/47,Benign,\N,intron_variant,1.319,0.0467,1KG_EUR_AF,COL4A4
469688,2:227960338:C>T,NM_000092.4:c.1205-1333G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.896,\N,\N,COL4A4
469689,2:227960349:A>G,NM_000092.4:c.1205-1344T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.539,0.0014,1KG_AMR_AF,COL4A4
469690,2:227960353:G>A,NM_000092.4:c.1205-1348C>T,\N,\N,19/47,Benign,\N,intron_variant,1.519,0.2063,1KG_EAS_AF,COL4A4
469691,2:227960377:G>A,NM_000092.4:c.1205-1372C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.108,\N,\N,COL4A4
469692,2:227960393:C>T,NM_000092.4:c.1205-1388G>A,\N,\N,19/47,Benign,\N,intron_variant,5.52,0.0068,1KG_AFR_AF,COL4A4
469693,2:227960407:T>C,NM_000092.4:c.1205-1402A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,4.799,\N,\N,COL4A4
469694,2:227960426:A>C,NM_000092.4:c.1205-1421T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,4.269,\N,\N,COL4A4
469695,2:227960442:C>A,NM_000092.4:c.1205-1437G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.761,\N,\N,COL4A4
469696,2:227960456:C>A,NM_000092.4:c.1205-1451G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.893,0.001,1KG_SAS_AF,COL4A4
469697,2:227960476:T>C,NM_000092.4:c.1205-1471A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.932,0.0038,1KG_AFR_AF,COL4A4
469698,2:227960596:G>A,NM_000092.4:c.1205-1591C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.109,0.002,1KG_SAS_AF,COL4A4
469699,2:227960606:C>T,NM_000092.4:c.1205-1601G>A,\N,\N,19/47,Benign,\N,intron_variant,0.1,0.0068,1KG_AFR_AF,COL4A4
469700,2:227960630:A>C,NM_000092.4:c.1205-1625T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.11,0.0008,1KG_AFR_AF,COL4A4
469701,2:227960646:G>A,NM_000092.4:c.1205-1641C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.136,0.001,1KG_EAS_AF,COL4A4
469702,2:227960652:C>T,NM_000092.4:c.1205-1647G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.905,0.004,1KG_EAS_AF,COL4A4
469703,2:227960660:G>A,NM_000092.4:c.1205-1655C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,5.099,0.001,1KG_EAS_AF,COL4A4
469704,2:227960703:C>G,NM_000092.4:c.1205-1698G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,3.006,0.0015,1KG_AFR_AF,COL4A4
469705,2:227960730:T>G,NM_000092.4:c.1205-1725A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.757,0.001,1KG_EAS_AF,COL4A4
469706,2:227960749:C>T,NM_000092.4:c.1205-1744G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.778,\N,\N,COL4A4
469707,2:227960760:T>C,NM_000092.4:c.1205-1755A>G,\N,\N,19/47,Benign,\N,intron_variant,0.378,0.0278,1KG_EUR_AF,COL4A4
469708,2:227960771:C>T,NM_000092.4:c.1205-1766G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.942,\N,\N,COL4A4
469709,2:227960803:G>A,NM_000092.4:c.1205-1798C>T,\N,\N,19/47,Benign,\N,intron_variant,4.989,0.0136,1KG_AFR_AF,COL4A4
469710,2:227960820:C>T,NM_000092.4:c.1205-1815G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.044,0.001,1KG_SAS_AF,COL4A4
469711,2:227960828:G>A,NM_000092.4:c.1205-1823C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.557,0.001,1KG_EUR_AF,COL4A4
469712,2:227960845:T>C,NM_000092.4:c.1205-1840A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,2.354,0.0008,1KG_AFR_AF,COL4A4
469713,2:227960928:A>G,NM_000092.4:c.1205-1923T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.734,0.004,1KG_EUR_AF,COL4A4
469714,2:227960941:C>G,NM_000092.4:c.1205-1936G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,5.075,\N,\N,COL4A4
469715,2:227960942:T>C,NM_000092.4:c.1205-1937A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,2.276,\N,\N,COL4A4
469716,2:227960953:C>T,NM_000092.4:c.1205-1948G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.237,0.0014,1KG_AMR_AF,COL4A4
469717,2:227961021:C>T,NM_000092.4:c.1205-2016G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,7.608,0.001,1KG_EUR_AF,COL4A4
469718,2:227961070:A>G,NM_000092.4:c.1205-2065T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,5.027,0.0015,1KG_AFR_AF,COL4A4
469719,2:227961092:T>C,NM_000092.4:c.1205-2087A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,2.692,\N,\N,COL4A4
469720,2:227961106:C>T,NM_000092.4:c.1205-2101G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.286,0.0008,1KG_AFR_AF,COL4A4
469721,2:227961107:G>A,NM_000092.4:c.1205-2102C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,4.498,0.001,1KG_SAS_AF,COL4A4
469722,2:227961107:G>C,NM_000092.4:c.1205-2102C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.675,\N,\N,COL4A4
469723,2:227961113:G>C,NM_000092.4:c.1205-2108C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,7.904,0.002,1KG_SAS_AF,COL4A4
469724,2:227961175:T>C,NM_000092.4:c.1205-2170A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,16.94,0.001,1KG_SAS_AF,COL4A4
469725,2:227961194:G>A,NM_000092.4:c.1205-2189C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.209,\N,\N,COL4A4
469726,2:227961217:T>A,NM_000092.4:c.1204+2193A>T,\N,\N,19/47,Unknown significance,\N,intron_variant,6.534,0.0008,1KG_AFR_AF,COL4A4
469727,2:227961228:C>T,NM_000092.4:c.1204+2182G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.51,0.0015,1KG_AFR_AF,COL4A4
469728,2:227961243:A>C,NM_000092.4:c.1204+2167T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.968,\N,\N,COL4A4
469729,2:227961244:G>A,NM_000092.4:c.1204+2166C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.234,0.002,1KG_SAS_AF,COL4A4
469730,2:227961265:C>T,NM_000092.4:c.1204+2145G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.881,\N,\N,COL4A4
469731,2:227961267:C>T,NM_000092.4:c.1204+2143G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.584,0.0008,1KG_AFR_AF,COL4A4
469732,2:227961309:T>C,NM_000092.4:c.1204+2101A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.238,\N,\N,COL4A4
469733,2:227961313:G>C,NM_000092.4:c.1204+2097C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.475,0.0014,1KG_AMR_AF,COL4A4
469734,2:227961322:C>G,NM_000092.4:c.1204+2088G>C,\N,\N,19/47,Benign,\N,intron_variant,1.005,0.0219,1KG_AFR_AF,COL4A4
469735,2:227961348:C>T,NM_000092.4:c.1204+2062G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.413,0.0045,1KG_AFR_AF,COL4A4
469736,2:227961454:G>A,NM_000092.4:c.1204+1956C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.435,0.001,1KG_EAS_AF,COL4A4
469737,2:227961463:G>A,NM_000092.4:c.1204+1947C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,5.192,\N,\N,COL4A4
469738,2:227961483:T>C,NM_000092.4:c.1204+1927A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.093,\N,\N,COL4A4
469739,2:227961485:C>A,NM_000092.4:c.1204+1925G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.898,\N,\N,COL4A4
469740,2:227961491:C>T,NM_000092.4:c.1204+1919G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.525,0.0015,1KG_AFR_AF,COL4A4
469741,2:227961546:G>A,NM_000092.4:c.1204+1864C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.259,\N,\N,COL4A4
469742,2:227961562:A>G,NM_000092.4:c.1204+1848T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.42,\N,\N,COL4A4
469743,2:227961639:T>C,NM_000092.4:c.1204+1771A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.837,0.0008,1KG_AFR_AF,COL4A4
469744,2:227961641:C>T,NM_000092.4:c.1204+1769G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.238,0.004,1KG_EUR_AF,COL4A4
469745,2:227961642:G>A,NM_000092.4:c.1204+1768C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.171,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
469746,2:227961659:T>C,NM_000092.4:c.1204+1751A>G,\N,\N,19/47,Benign,\N,intron_variant,0.194,0.0298,1KG_EAS_AF,COL4A4
469747,2:227961661:C>A,NM_000092.4:c.1204+1749G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.761,\N,\N,COL4A4
469748,2:227961673:A>C,NM_000092.4:c.1204+1737T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.155,\N,\N,COL4A4
469749,2:227961674:C>A,NM_000092.4:c.1204+1736G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,2.034,\N,\N,COL4A4
469750,2:227961695:C>T,NM_000092.4:c.1204+1715G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.07,0.001,1KG_EAS_AF,COL4A4
469751,2:227961783:A>T,NM_000092.4:c.1204+1627T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,11.7,0.001,1KG_SAS_AF,COL4A4
469752,2:227961795:T>C,NM_000092.4:c.1204+1615A>G,\N,\N,19/47,Benign,\N,intron_variant,0.208,0.0983,1KG_AFR_AF,COL4A4
469753,2:227961814:T>A,NM_000092.4:c.1204+1596A>T,\N,\N,19/47,Unknown significance,\N,intron_variant,8.371,0.0038,1KG_AFR_AF,COL4A4
469754,2:227961821:T>G,NM_000092.4:c.1204+1589A>C,\N,\N,19/47,Benign,\N,intron_variant,6.044,0.0265,1KG_AFR_AF,COL4A4
469755,2:227961860:G>A,NM_000092.4:c.1204+1550C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.445,\N,\N,COL4A4
469756,2:227961877:C>T,NM_000092.4:c.1204+1533G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,6.17,0.0008,1KG_AFR_AF,COL4A4
469757,2:227961877:CCAA>C,NM_000092.4:c.1204+1530_1204+1532del,\N,\N,19/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469758,2:227961878:CAAG>C,NM_000092.4:c.1204+1529_1204+1531del,\N,\N,19/47,Benign,\N,intron_variant,7.2,0.4597,1KG_AMR_AF,COL4A4
469759,2:227961943:T>C,NM_000092.4:c.1204+1467A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.201,0.003,1KG_EAS_AF,COL4A4
469760,2:227961944:T>C,NM_000092.4:c.1204+1466A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.554,\N,\N,COL4A4
469761,2:227961954:A>G,NM_000092.4:c.1204+1456T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.207,0.001,1KG_SAS_AF,COL4A4
469762,2:227961960:G>C,NM_000092.4:c.1204+1450C>G,\N,\N,19/47,Benign,\N,intron_variant,0.255,0.0053,1KG_AFR_AF,COL4A4
469763,2:227962021:G>A,NM_000092.4:c.1204+1389C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.92,0.001,1KG_EAS_AF,COL4A4
469764,2:227962030:A>C,NM_000092.4:c.1204+1380T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,1.689,0.001,1KG_SAS_AF,COL4A4
469765,2:227962049:C>T,NM_000092.4:c.1204+1361G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,4.015,0.001,1KG_SAS_AF,COL4A4
469766,2:227962050:G>A,NM_000092.4:c.1204+1360C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.13,0.0023,1KG_AFR_AF,COL4A4
469767,2:227962092:C>T,NM_000092.4:c.1204+1318G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.244,\N,\N,COL4A4
469768,2:227962100:T>G,NM_000092.4:c.1204+1310A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.533,\N,\N,COL4A4
469769,2:227962106:C>T,NM_000092.4:c.1204+1304G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.882,0.0008,1KG_AFR_AF,COL4A4
469770,2:227962108:T>G,NM_000092.4:c.1204+1302A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,3.452,0.001,1KG_EAS_AF,COL4A4
469771,2:227962109:G>A,NM_000092.4:c.1204+1301C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.137,\N,\N,COL4A4
469772,2:227962120:A>C,NM_000092.4:c.1204+1290T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.668,\N,\N,COL4A4
469773,2:227962146:T>C,NM_000092.4:c.1204+1264A>G,\N,\N,19/47,Benign,\N,intron_variant,8.85,0.0082,1KG_SAS_AF,COL4A4
469774,2:227962204:T>C,NM_000092.4:c.1204+1206A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,4.895,0.0031,1KG_SAS_AF,COL4A4
469775,2:227962207:A>G,NM_000092.4:c.1204+1203T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.919,0.003,1KG_EUR_AF,COL4A4
469776,2:227962217:T>C,NM_000092.4:c.1204+1193A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.589,0.004,1KG_EAS_AF,COL4A4
469777,2:227962226:G>A,NM_000092.4:c.1204+1184C>T,\N,\N,19/47,Benign,\N,intron_variant,0.358,0.2201,1KG_AFR_AF,COL4A4
469778,2:227962287:C>A,NM_000092.4:c.1204+1123G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.06,\N,\N,COL4A4
469779,2:227962294:T>C,NM_000092.4:c.1204+1116A>G,\N,\N,19/47,Benign,\N,intron_variant,2.693,0.0068,1KG_AFR_AF,COL4A4
469780,2:227962302:C>T,NM_000092.4:c.1204+1108G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.415,\N,\N,COL4A4
469781,2:227962311:CTA>C,NM_000092.4:c.1204+1097_1204+1098del,\N,\N,19/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469782,2:227962343:T>C,NM_000092.4:c.1204+1067A>G,\N,\N,19/47,Benign,\N,intron_variant,1.326,0.0219,1KG_AFR_AF,COL4A4
469783,2:227962361:G>A,NM_000092.4:c.1204+1049C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.893,\N,\N,COL4A4
469784,2:227962368:C>G,NM_000092.4:c.1204+1042G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,4.066,0.0014,1KG_AMR_AF,COL4A4
469785,2:227962376:C>T,NM_000092.4:c.1204+1034G>A,\N,\N,19/47,Benign,\N,intron_variant,1.746,0.0106,1KG_AFR_AF,COL4A4
469786,2:227962377:G>A,NM_000092.4:c.1204+1033C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.501,\N,\N,COL4A4
469787,2:227962398:A>G,NM_000092.4:c.1204+1012T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.904,0.001,1KG_SAS_AF,COL4A4
469788,2:227962401:C>T,NM_000092.4:c.1204+1009G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.774,\N,\N,COL4A4
469789,2:227962424:C>T,NM_000092.4:c.1204+986G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.716,\N,\N,COL4A4
469790,2:227962439:G>C,NM_000092.4:c.1204+971C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.133,\N,\N,COL4A4
469791,2:227962467:C>A,NM_000092.4:c.1204+943G>T,\N,\N,19/47,Benign,\N,intron_variant,0.486,0.351,1KG_AFR_AF,COL4A4
469792,2:227962518:A>C,NM_000092.4:c.1204+892T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,3.014,\N,\N,COL4A4
469793,2:227962539:C>CAG,NM_000092.4:c.1204+869_1204+870dup,\N,\N,19/47,Unknown significance,\N,intron_variant,3.296,0.003,1KG_AFR_AF,COL4A4
469794,2:227962548:A>G,NM_000092.4:c.1204+862T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,3.437,\N,\N,COL4A4
469795,2:227962560:T>G,NM_000092.4:c.1204+850A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,6.297,0.001,1KG_SAS_AF,COL4A4
469796,2:227962613:G>C,NM_000092.4:c.1204+797C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.057,\N,\N,COL4A4
469797,2:227962613:G>T,NM_000092.4:c.1204+797C>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.127,\N,\N,COL4A4
469798,2:227962620:C>G,NM_000092.4:c.1204+790G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.937,0.001,1KG_EAS_AF,COL4A4
469799,2:227962628:T>G,NM_000092.4:c.1204+782A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,6.261,\N,\N,COL4A4
469800,2:227962630:C>A,NM_000092.4:c.1204+780G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.253,\N,\N,COL4A4
469801,2:227962631:T>G,NM_000092.4:c.1204+779A>C,\N,\N,19/47,Unknown significance,\N,intron_variant,7.436,0.002,1KG_SAS_AF,COL4A4
469802,2:227962698:A>G,NM_000092.4:c.1204+712T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.986,0.001,1KG_EUR_AF,COL4A4
469803,2:227962721:C>CGCA,NM_000092.4:c.1204+686_1204+688dup,\N,\N,19/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469804,2:227962721:C>T,NM_000092.4:c.1204+689G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,4.102,\N,\N,COL4A4
469805,2:227962722:G>A,NM_000092.4:c.1204+688C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.961,0.001,1KG_EUR_AF,COL4A4
469806,2:227962760:G>T,NM_000092.4:c.1204+650C>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.054,0.001,1KG_SAS_AF,COL4A4
469807,2:227962774:C>T,NM_000092.4:c.1204+636G>A,\N,\N,19/47,Benign,\N,intron_variant,3.62,0.0113,1KG_AFR_AF,COL4A4
469808,2:227962788:C>G,NM_000092.4:c.1204+622G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.158,0.003,1KG_AFR_AF,COL4A4
469809,2:227962825:C>T,NM_000092.4:c.1204+585G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,3.686,\N,\N,COL4A4
469810,2:227962826:G>A,NM_000092.4:c.1204+584C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,1.367,\N,\N,COL4A4
469811,2:227962840:C>G,NM_000092.4:c.1204+570G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.569,\N,\N,COL4A4
469812,2:227962841:T>A,NM_000092.4:c.1204+569A>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.234,0.001,1KG_EAS_AF,COL4A4
469813,2:227962875:A>G,NM_000092.4:c.1204+535T>C,\N,\N,19/47,Benign,\N,intron_variant,12.91,0.0086,1KG_AMR_AF,COL4A4
469814,2:227962904:A>G,NM_000092.4:c.1204+506T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,3.877,\N,\N,COL4A4
469815,2:227962918:A>C,NM_000092.4:c.1204+492T>G,\N,\N,19/47,Unknown significance,\N,intron_variant,0.159,0.0015,1KG_AFR_AF,COL4A4
469816,2:227962963:G>C,NM_000092.4:c.1204+447C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,10.22,\N,\N,COL4A4
469817,2:227963038:G>A,NM_000092.4:c.1204+372C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,2.475,\N,\N,COL4A4
469818,2:227963040:G>A,NM_000092.4:c.1204+370C>T,\N,\N,19/47,Benign,\N,intron_variant,2.808,0.326,1KG_AFR_AF,COL4A4
469819,2:227963040:GA>G,NM_000092.4:c.1204+369del,\N,\N,19/47,Unknown significance,\N,intron_variant,0.84,0.0023,1KG_AFR_AF,COL4A4
469820,2:227963076:A>G,NM_000092.4:c.1204+334T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.056,0.002,1KG_SAS_AF,COL4A4
469821,2:227963089:C>T,NM_000092.4:c.1204+321G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.424,0.0041,1KG_SAS_AF,COL4A4
469822,2:227963094:A>G,NM_000092.4:c.1204+316T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,2.325,0.0014,1KG_AMR_AF,COL4A4
469823,2:227963176:G>C,NM_000092.4:c.1204+234C>G,\N,\N,19/47,Unknown significance,\N,intron_variant,6.325,\N,\N,COL4A4
469824,2:227963198:T>C,NM_000092.4:c.1204+212A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,3.186,0.001,1KG_SAS_AF,COL4A4
469825,2:227963208:A>G,NM_000092.4:c.1204+202T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,0.244,\N,\N,COL4A4
469826,2:227963213:C>T,NM_000092.4:c.1204+197G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.234,\N,\N,COL4A4
469827,2:227963214:G>A,NM_000092.4:c.1204+196C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.142,0.0015,1KG_AFR_AF,COL4A4
469828,2:227963219:T>C,NM_000092.4:c.1204+191A>G,\N,\N,19/47,Unknown significance,\N,intron_variant,2.688,\N,\N,COL4A4
469829,2:227963288:C>T,NM_000092.4:c.1204+122G>A,\N,\N,19/47,Unknown significance,\N,intron_variant,2.173,0.001,1KG_EUR_AF,COL4A4
469830,2:227963322:A>T,NM_000092.4:c.1204+88T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,0.424,\N,\N,COL4A4
469831,2:227963327:A>T,NM_000092.4:c.1204+83T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.015,0.0014,1KG_AMR_AF,COL4A4
469832,2:227963353:G>A,NM_000092.4:c.1204+57C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,0.428,\N,\N,COL4A4
469833,2:227963363:C>G,NM_000092.4:c.1204+47G>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.472,0.0000155632,EXAC_NFE_AF,COL4A4
469834,2:227963374:A>T,NM_000092.4:c.1204+36T>A,\N,\N,19/47,Unknown significance,\N,intron_variant,1.331,\N,\N,COL4A4
469835,2:227963385:C>A,NM_000092.4:c.1204+25G>T,\N,\N,19/47,Unknown significance,\N,intron_variant,7.987,0.00010627,EXAC_AFR_AF,COL4A4
469836,2:227963389:G>A,NM_000092.4:c.1204+21C>T,\N,\N,19/47,Unknown significance,\N,intron_variant,3.419,0.0000153586,EXAC_NFE_AF,COL4A4
469837,2:227963392:A>G,NM_000092.4:c.1204+18T>C,\N,\N,19/47,Unknown significance,\N,intron_variant,1.884,0.000061267,EXAC_SAS_AF,COL4A4
469838,2:227963405:C>T,NM_000092.4:c.1204+5G>A,\N,\N,19/47,Unknown significance,\N,splice_region_variant&intron_variant,10.03,\N,\N,COL4A4
469839,2:227963406:G>A,NM_000092.4:c.1204+4C>T,\N,\N,19/47,Unknown significance,\N,splice_region_variant&intron_variant,2.351,0.0000152314,EXAC_NFE_AF,COL4A4
469840,2:227963411:T>C,NM_000092.4:c.1203A>G,NP_000083.3:p.Ala401=,19/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,16.96,\N,\N,COL4A4
469841,2:227963412:G>A,NM_000092.4:c.1202C>T,NP_000083.3:p.Ala401Val,19/48,\N,Benign,\N,missense_variant&splice_region_variant,23.6,0.0202382,EXAC_SAS_AF,COL4A4
469842,2:227963417:G>A,NM_000092.4:c.1197C>T,NP_000083.3:p.Ala399=,19/48,\N,Unknown significance,\N,synonymous_variant,12.27,0.0000607755,EXAC_SAS_AF,COL4A4
469843,2:227963425:C>T,NM_000092.4:c.1189G>A,NP_000083.3:p.Gly397Arg,19/48,\N,Unknown significance,\N,missense_variant,34,0.000117316,EXAC_EAS_AF,COL4A4
469844,2:227963438:G>A,NM_000092.4:c.1176C>T,NP_000083.3:p.Leu392=,19/48,\N,Unknown significance,\N,synonymous_variant,10.88,0.000242954,EXAC_SAS_AF,COL4A4
469845,2:227963457:G>A,NM_000092.4:c.1157C>T,NP_000083.3:p.Pro386Leu,19/48,\N,Likely benign,\N,missense_variant,8.539,0.0000152003,EXAC_NFE_AF,COL4A4
469846,2:227963458:G>A,NM_000092.4:c.1156C>T,NP_000083.3:p.Pro386Ser,19/48,\N,Likely benign,\N,missense_variant,5.874,0.000104866,EXAC_AFR_AF,COL4A4
469847,2:227963464:C>T,NM_000092.4:c.1150G>A,NP_000083.3:p.Val384Ile,19/48,\N,Likely benign,\N,missense_variant,0.004,0.000030422,EXAC_NFE_AF,COL4A4
469848,2:227963466:T>C,NM_000092.4:c.1148A>G,NP_000083.3:p.Asp383Gly,19/48,\N,Likely benign,\N,missense_variant,6.724,0.000105042,EXAC_AFR_AF,COL4A4
469849,2:227963469:C>G,NM_000092.4:c.1145G>C,NP_000083.3:p.Gly382Ala,19/48,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,COL4A4
469850,2:227963484:C>T,NM_000092.4:c.1130G>A,NP_000083.3:p.Arg377His,19/48,\N,Likely benign,\N,missense_variant,13.85,0.0000152802,EXAC_NFE_AF,COL4A4
469851,2:227963485:G>A,NM_000092.4:c.1129C>T,NP_000083.3:p.Arg377Cys,19/48,\N,Likely benign,\N,missense_variant,25.1,0.000212179,EXAC_AFR_AF,COL4A4
469852,2:227963491:G>T,NM_000092.4:c.1123C>A,NP_000083.3:p.Pro375Thr,19/48,\N,Unknown significance,\N,missense_variant,23.5,0.000117426,EXAC_EAS_AF,COL4A4
469853,2:227963496:C>T,NM_000092.4:c.1118G>A,NP_000083.3:p.Gly373Glu,19/48,\N,Pathogenic,Alport syndrome,missense_variant,28,0.0000154059,EXAC_NFE_AF,COL4A4
469854,2:227963505:C>T,NM_000092.4:c.1109G>A,NP_000083.3:p.Gly370Glu,19/48,\N,Pathogenic,Alport syndrome,missense_variant,29.6,0.0000154669,EXAC_NFE_AF,COL4A4
469855,2:227963508:G>T,NM_000092.4:c.1106C>A,NP_000083.3:p.Pro369Gln,19/48,\N,Unknown significance,\N,missense_variant,22.7,0.0000875044,EXAC_AMR_AF,COL4A4
469856,2:227963514:C>T,NM_000092.4:c.1100G>A,NP_000083.3:p.Gly367Asp,19/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.5,0.0000875964,EXAC_AMR_AF,COL4A4
469857,2:227963516:T>G,NM_000092.4:c.1100-2A>C,\N,\N,18/47,Pathogenic,Benign familial hematuria,splice_acceptor_variant,23.8,\N,\N,COL4A4
469858,2:227963518:C>T,NM_000092.4:c.1100-4G>A,\N,\N,18/47,Unknown significance,\N,splice_region_variant&intron_variant,11.5,\N,\N,COL4A4
469859,2:227963525:TA>T,NM_000092.4:c.1100-12del,\N,\N,18/47,Unknown significance,\N,intron_variant,14.34,0.0000883861,EXAC_AMR_AF,COL4A4
469860,2:227963528:T>A,NM_000092.4:c.1100-14A>T,\N,\N,18/47,Unknown significance,\N,intron_variant,13.24,\N,\N,COL4A4
469861,2:227963533:C>A,NM_000092.4:c.1100-19G>T,\N,\N,18/47,Unknown significance,\N,intron_variant,2.831,0.0000618659,EXAC_SAS_AF,COL4A4
469862,2:227963535:T>C,NM_000092.4:c.1100-21A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,2.339,0.0000619118,EXAC_SAS_AF,COL4A4
469863,2:227963536:G>A,NM_000092.4:c.1100-22C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,2.969,0.0000158298,EXAC_NFE_AF,COL4A4
469864,2:227963537:A>G,NM_000092.4:c.1100-23T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,3.098,0.0023,1KG_AFR_AF,COL4A4
469865,2:227963541:T>C,NM_000092.4:c.1100-27A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,0.824,0.000122609,EVS_EA_AF,COL4A4
469866,2:227963555:G>A,NM_000092.4:c.1100-41C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.869,0.0000162639,EXAC_NFE_AF,COL4A4
469867,2:227963558:C>T,NM_000092.4:c.1100-44G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,5.307,0.0000163956,EXAC_NFE_AF,COL4A4
469868,2:227963563:T>A,NM_000092.4:c.1100-49A>T,\N,\N,18/47,Unknown significance,\N,intron_variant,5.894,\N,\N,COL4A4
469869,2:227963590:T>C,NM_000092.4:c.1100-76A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,2.907,0.0008,1KG_AFR_AF,COL4A4
469870,2:227963598:A>C,NM_000092.4:c.1100-84T>G,\N,\N,18/47,Unknown significance,\N,intron_variant,1.664,0.0014,1KG_AMR_AF,COL4A4
469871,2:227963652:A>G,NM_000092.4:c.1100-138T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,1.201,\N,\N,COL4A4
469872,2:227963659:A>G,NM_000092.4:c.1100-145T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,3.817,0.0008,1KG_AFR_AF,COL4A4
469873,2:227963660:A>T,NM_000092.4:c.1100-146T>A,\N,\N,18/47,Unknown significance,\N,intron_variant,2.761,0.0023,1KG_AFR_AF,COL4A4
469874,2:227963663:G>A,NM_000092.4:c.1100-149C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,2.674,0.001,1KG_EUR_AF,COL4A4
469875,2:227963672:C>CT,NM_000092.4:c.1100-159dup,\N,\N,18/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469876,2:227963693:GA>G,NM_000092.4:c.1100-180del,\N,\N,18/47,Unknown significance,\N,intron_variant,1.465,\N,\N,COL4A4
469877,2:227963697:C>T,NM_000092.4:c.1100-183G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,3.878,0.0038,1KG_AFR_AF,COL4A4
469878,2:227963711:G>A,NM_000092.4:c.1100-197C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,2.834,0.001,1KG_EAS_AF,COL4A4
469879,2:227963782:C>T,NM_000092.4:c.1100-268G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,2.149,0.001,1KG_EUR_AF,COL4A4
469880,2:227963782:CTGTTTT>C,NM_000092.4:c.1100-274_1100-269del,\N,\N,18/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469881,2:227963803:T>A,NM_000092.4:c.1100-289A>T,\N,\N,18/47,Unknown significance,\N,intron_variant,2.723,\N,\N,COL4A4
469882,2:227963812:G>A,NM_000092.4:c.1100-298C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.371,\N,\N,COL4A4
469883,2:227963853:G>A,NM_000092.4:c.1100-339C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,3.73,0.0008,1KG_AFR_AF,COL4A4
469884,2:227963885:C>T,NM_000092.4:c.1100-371G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,0.05,\N,\N,COL4A4
469885,2:227963892:C>T,NM_000092.4:c.1100-378G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,1.715,\N,\N,COL4A4
469886,2:227963909:C>A,NM_000092.4:c.1100-395G>T,\N,\N,18/47,Benign,\N,intron_variant,0.713,0.6248,1KG_AFR_AF,COL4A4
469887,2:227963910:G>A,NM_000092.4:c.1100-396C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.281,\N,\N,COL4A4
469888,2:227963913:G>A,NM_000092.4:c.1100-399C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.269,0.001,1KG_EUR_AF,COL4A4
469889,2:227963955:G>T,NM_000092.4:c.1099+381C>A,\N,\N,18/47,Unknown significance,\N,intron_variant,0.067,0.001,1KG_EUR_AF,COL4A4
469890,2:227963975:A>AT,NM_000092.4:c.1099+360dup,\N,\N,18/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469891,2:227964003:G>A,NM_000092.4:c.1099+333C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.92,\N,\N,COL4A4
469892,2:227964008:C>T,NM_000092.4:c.1099+328G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,9.256,\N,\N,COL4A4
469893,2:227964026:G>C,NM_000092.4:c.1099+310C>G,\N,\N,18/47,Unknown significance,\N,intron_variant,0.522,0.0029,1KG_AMR_AF,COL4A4
469894,2:227964082:C>T,NM_000092.4:c.1099+254G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,2.257,\N,\N,COL4A4
469895,2:227964115:A>G,NM_000092.4:c.1099+221T>C,\N,\N,18/47,Benign,\N,intron_variant,2.957,0.0424,1KG_AFR_AF,COL4A4
469896,2:227964129:T>A,NM_000092.4:c.1099+207A>T,\N,\N,18/47,Unknown significance,\N,intron_variant,5.072,0.0008,1KG_AFR_AF,COL4A4
469897,2:227964136:T>C,NM_000092.4:c.1099+200A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,3.052,0.0008,1KG_AFR_AF,COL4A4
469898,2:227964156:T>C,NM_000092.4:c.1099+180A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,2.883,0.0014,1KG_AMR_AF,COL4A4
469899,2:227964158:C>T,NM_000092.4:c.1099+178G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,5.148,\N,\N,COL4A4
469900,2:227964165:T>C,NM_000092.4:c.1099+171A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,1.442,\N,\N,COL4A4
469901,2:227964169:C>T,NM_000092.4:c.1099+167G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,4.499,\N,\N,COL4A4
469902,2:227964179:C>A,NM_000092.4:c.1099+157G>T,\N,\N,18/47,Unknown significance,\N,intron_variant,1.723,0.001,1KG_EUR_AF,COL4A4
469903,2:227964198:T>C,NM_000092.4:c.1099+138A>G,\N,\N,18/47,Unknown significance,\N,intron_variant,4.403,0.0014,1KG_AMR_AF,COL4A4
469904,2:227964219:G>A,NM_000092.4:c.1099+117C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,0.406,0.0015,1KG_AFR_AF,COL4A4
469905,2:227964226:C>T,NM_000092.4:c.1099+110G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,3.657,0.0008,1KG_AFR_AF,COL4A4
469906,2:227964237:G>A,NM_000092.4:c.1099+99C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,4.297,\N,\N,COL4A4
469907,2:227964254:A>G,NM_000092.4:c.1099+82T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,3.492,0.001,1KG_EAS_AF,COL4A4
469908,2:227964260:G>A,NM_000092.4:c.1099+76C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,5.006,\N,\N,COL4A4
469909,2:227964269:C>A,NM_000092.4:c.1099+67G>T,\N,\N,18/47,Unknown significance,\N,intron_variant,3.556,\N,\N,COL4A4
469910,2:227964277:C>G,NM_000092.4:c.1099+59G>C,\N,\N,18/47,Unknown significance,\N,intron_variant,1.971,0.0014,1KG_AMR_AF,COL4A4
469911,2:227964285:TC>T,NM_000092.4:c.1099+50del,\N,\N,18/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469912,2:227964288:A>C,NM_000092.4:c.1099+48T>G,\N,\N,18/47,Unknown significance,\N,intron_variant,6.863,0.000122459,EXAC_SAS_AF,COL4A4
469913,2:227964289:C>T,NM_000092.4:c.1099+47G>A,\N,\N,18/47,Unknown significance,\N,intron_variant,7.232,0.002,1KG_SAS_AF,COL4A4
469914,2:227964294:A>G,NM_000092.4:c.1099+42T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,8.332,0.000350959,EXAC_EAS_AF,COL4A4
469915,2:227964302:A>G,NM_000092.4:c.1099+34T>C,\N,\N,18/47,Unknown significance,\N,intron_variant,9.914,0.000015039,EXAC_NFE_AF,COL4A4
469916,2:227964305:A>C,NM_000092.4:c.1099+31T>G,\N,\N,18/47,Unknown significance,\N,intron_variant,9.889,0.00026441,EVS_AA_AF,COL4A4
469917,2:227964308:T>C,NM_000092.4:c.1099+28A>G,\N,\N,18/47,Benign,\N,intron_variant,10.03,0.0287,1KG_AFR_AF,COL4A4
469918,2:227964312:G>A,NM_000092.4:c.1099+24C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,12.23,0.00121655,EXAC_AMR_AF,COL4A4
469919,2:227964313:A>C,NM_000092.4:c.1099+23T>G,\N,\N,18/47,Unknown significance,\N,intron_variant,13.94,0.0000300463,EXAC_NFE_AF,COL4A4
469920,2:227964320:G>A,NM_000092.4:c.1099+16C>T,\N,\N,18/47,Unknown significance,\N,intron_variant,14.82,0.0000600492,EXAC_NFE_AF,COL4A4
469921,2:227964335:C>T,NM_000092.4:c.1099+1G>A,\N,\N,18/47,Pathogenic,Alport syndrome,splice_donor_variant,26.2,\N,\N,COL4A4
469922,2:227964336:C>T,NM_000092.4:c.1099G>A,NP_000083.3:p.Gly367Ser,18/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.9,0.0000149984,EXAC_NFE_AF,COL4A4
469923,2:227964348:G>A,NM_000092.4:c.1087C>T,NP_000083.3:p.Leu363Phe,18/48,\N,Likely benign,\N,missense_variant,0.168,\N,\N,COL4A4
469924,2:227964352:T>C,NM_000092.4:c.1083A>G,NP_000083.3:p.Pro361=,18/48,\N,Unknown significance,\N,synonymous_variant,0.099,0.00017328,EXAC_AMR_AF,COL4A4
469925,2:227964353:G>C,NM_000092.4:c.1082C>G,NP_000083.3:p.Pro361Arg,18/48,\N,Unknown significance,\N,missense_variant,23,0.0000607312,EXAC_SAS_AF,COL4A4
469926,2:227964355:A>T,NM_000092.4:c.1080T>A,NP_000083.3:p.Thr360=,18/48,\N,Unknown significance,\N,synonymous_variant,3.723,0.000259965,EXAC_AMR_AF,COL4A4
469927,2:227964361:C>G,NM_000092.4:c.1074G>C,NP_000083.3:p.Leu358Phe,18/48,\N,Unknown significance,\N,missense_variant,23.3,\N,\N,COL4A4
469928,2:227964372:G>C,NM_000092.4:c.1063C>G,NP_000083.3:p.Pro355Ala,18/48,\N,Unknown significance,\N,missense_variant,26.2,0.000243072,EVS_EA_AF,COL4A4
469929,2:227964380:G>A,NM_000092.4:c.1055C>T,NP_000083.3:p.Pro352Leu,18/48,\N,Unknown significance,\N,missense_variant,31,0.000364343,EVS_EA_AF,COL4A4
469930,2:227964382:G>C,NM_000092.4:c.1053C>G,NP_000083.3:p.His351Gln,18/48,\N,Likely benign,\N,missense_variant,11.89,0.001,1KG_EUR_AF,COL4A4
469931,2:227964384:G>A,NM_000092.4:c.1051C>T,NP_000083.3:p.His351Tyr,18/48,\N,Likely benign,\N,missense_variant,0.141,0.0000150119,EXAC_NFE_AF,COL4A4
469932,2:227964389:C>T,NM_000092.4:c.1046G>A,NP_000083.3:p.Arg349Gln,18/48,\N,Unknown significance,\N,missense_variant,25.5,0.000122055,EXAC_SAS_AF,COL4A4
469933,2:227964390:G>A,NM_000092.4:c.1045C>T,NP_000083.3:p.Arg349Ter,18/48,\N,Unknown significance,\N,stop_gained,40,0.0014,1KG_AMR_AF,COL4A4
469934,2:227964403:C>A,NM_000092.4:c.1032G>T,NP_000083.3:p.Gly344=,18/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.47,0.000117014,EXAC_EAS_AF,COL4A4
469935,2:227964405:C>T,NM_000092.4:c.1030G>A,NP_000083.3:p.Gly344Arg,18/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,\N,\N,COL4A4
469936,2:227964408:G>A,NM_000092.4:c.1030-3C>T,\N,\N,17/47,Unknown significance,\N,splice_region_variant&intron_variant,14.69,0.000267953,EVS_AA_AF,COL4A4
469937,2:227964423:T>C,NM_000092.4:c.1030-18A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,14.01,0.000015352,EXAC_NFE_AF,COL4A4
469938,2:227964427:C>T,NM_000092.4:c.1030-22G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,16.6,0.000105241,EXAC_AFR_AF,COL4A4
469939,2:227964450:A>G,NM_000092.4:c.1030-45T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,8.073,0.0000160195,EXAC_NFE_AF,COL4A4
469940,2:227964453:C>T,NM_000092.4:c.1030-48G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,8.861,0.0000663658,EXAC_SAS_AF,COL4A4
469941,2:227964455:T>C,NM_000092.4:c.1030-50A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,6.341,0.0000960615,EXAC_AMR_AF,COL4A4
469942,2:227964470:A>C,NM_000092.4:c.1030-65T>G,\N,\N,17/47,Unknown significance,\N,intron_variant,4.356,0.0008,1KG_AFR_AF,COL4A4
469943,2:227964484:C>T,NM_000092.4:c.1030-79G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,1.165,\N,\N,COL4A4
469944,2:227964524:C>CTTATA,NM_000092.4:c.1030-120_1030-119insTATAA,\N,\N,17/47,Unknown significance,\N,intron_variant,2.449,\N,\N,COL4A4
469945,2:227964528:C>T,NM_000092.4:c.1030-123G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.969,0.0008,1KG_AFR_AF,COL4A4
469946,2:227964554:C>T,NM_000092.4:c.1030-149G>A,\N,\N,17/47,Benign,\N,intron_variant,4.67,0.2411,1KG_EAS_AF,COL4A4
469947,2:227964622:G>A,NM_000092.4:c.1030-217C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,3.953,\N,\N,COL4A4
469948,2:227964650:C>A,NM_000092.4:c.1030-245G>T,\N,\N,17/47,Unknown significance,\N,intron_variant,3.248,0.0008,1KG_AFR_AF,COL4A4
469949,2:227964662:T>C,NM_000092.4:c.1030-257A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.109,\N,\N,COL4A4
469950,2:227964677:T>C,NM_000092.4:c.1030-272A>G,\N,\N,17/47,Benign,\N,intron_variant,2.237,0.0061,1KG_SAS_AF,COL4A4
469951,2:227964682:T>C,NM_000092.4:c.1030-277A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.932,0.001,1KG_SAS_AF,COL4A4
469952,2:227964722:A>G,NM_000092.4:c.1030-317T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,4.25,\N,\N,COL4A4
469953,2:227964738:G>T,NM_000092.4:c.1030-333C>A,\N,\N,17/47,Unknown significance,\N,intron_variant,1.357,0.002,1KG_SAS_AF,COL4A4
469954,2:227964739:C>T,NM_000092.4:c.1030-334G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,3.805,0.002,1KG_SAS_AF,COL4A4
469955,2:227964751:A>G,NM_000092.4:c.1030-346T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,2.731,\N,\N,COL4A4
469956,2:227964775:C>T,NM_000092.4:c.1030-370G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.809,0.0008,1KG_AFR_AF,COL4A4
469957,2:227964776:G>A,NM_000092.4:c.1030-371C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,6.581,0.0014,1KG_AMR_AF,COL4A4
469958,2:227964776:G>T,NM_000092.4:c.1030-371C>A,\N,\N,17/47,Unknown significance,\N,intron_variant,4.217,\N,\N,COL4A4
469959,2:227964781:T>C,NM_000092.4:c.1030-376A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,5.164,0.0008,1KG_AFR_AF,COL4A4
469960,2:227964806:C>T,NM_000092.4:c.1030-401G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,3.622,0.001,1KG_EUR_AF,COL4A4
469961,2:227964807:G>A,NM_000092.4:c.1030-402C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,3.376,0.0008,1KG_AFR_AF,COL4A4
469962,2:227964809:C>A,NM_000092.4:c.1030-404G>T,\N,\N,17/47,Unknown significance,\N,intron_variant,6.025,0.001,1KG_EUR_AF,COL4A4
469963,2:227964851:G>A,NM_000092.4:c.1030-446C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,10.4,0.001,1KG_SAS_AF,COL4A4
469964,2:227964888:A>ATG,NM_000092.4:c.1030-485_1030-484dup,\N,\N,17/47,Benign,\N,intron_variant,1.251,0.2411,1KG_EAS_AF,COL4A4
469965,2:227964960:C>A,NM_000092.4:c.1030-555G>T,\N,\N,17/47,Unknown significance,\N,intron_variant,3.874,0.0008,1KG_AFR_AF,COL4A4
469966,2:227964962:C>T,NM_000092.4:c.1030-557G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,1.666,\N,\N,COL4A4
469967,2:227965034:C>T,NM_000092.4:c.1030-629G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,3.125,0.001,1KG_EAS_AF,COL4A4
469968,2:227965040:T>A,NM_000092.4:c.1030-635A>T,\N,\N,17/47,Unknown significance,\N,intron_variant,2.919,\N,\N,COL4A4
469969,2:227965053:A>G,NM_000092.4:c.1030-648T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,0.297,0.002,1KG_EAS_AF,COL4A4
469970,2:227965054:A>G,NM_000092.4:c.1030-649T>C,\N,\N,17/47,Benign,\N,intron_variant,3.788,0.1619,1KG_AFR_AF,COL4A4
469971,2:227965071:GAT>G,NM_000092.4:c.1030-668_1030-667del,\N,\N,17/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469972,2:227965073:T>TATG,NM_000092.4:c.1030-671_1030-669dup,\N,\N,17/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
469973,2:227965073:TATG>T,NM_000092.4:c.1030-671_1030-669del,\N,\N,17/47,Benign,\N,intron_variant,14.77,0.4683,1KG_AMR_AF,COL4A4
469974,2:227965076:G>A,NM_000092.4:c.1030-671C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,13.19,\N,\N,COL4A4
469975,2:227965132:C>T,NM_000092.4:c.1030-727G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.625,0.001,1KG_EAS_AF,COL4A4
469976,2:227965133:A>C,NM_000092.4:c.1030-728T>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.845,\N,\N,COL4A4
469977,2:227965139:CTT>C,NM_000092.4:c.1030-736_1030-735del,\N,\N,17/47,Unknown significance,\N,intron_variant,0.571,0.002,1KG_EAS_AF,COL4A4
469978,2:227965155:T>A,NM_000092.4:c.1030-750A>T,\N,\N,17/47,Benign,\N,intron_variant,1.216,0.0499,1KG_AFR_AF,COL4A4
469979,2:227965155:T>C,NM_000092.4:c.1030-750A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.336,\N,\N,COL4A4
469980,2:227965155:TA>T,NM_000092.4:c.1030-751del,\N,\N,17/47,Benign,\N,intron_variant,0.017,0.2401,1KG_EAS_AF,COL4A4
469981,2:227965156:A>T,NM_000092.4:c.1030-751T>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.004,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
469982,2:227965164:TAAC>T,NM_000092.4:c.1030-762_1030-760del,\N,\N,17/47,Benign,\N,intron_variant,5.313,0.0061,1KG_AFR_AF,COL4A4
469983,2:227965167:C>T,NM_000092.4:c.1030-762G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.004,\N,\N,COL4A4
469984,2:227965228:T>C,NM_000092.4:c.1030-823A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,11.16,0.001,1KG_EUR_AF,COL4A4
469985,2:227965233:T>C,NM_000092.4:c.1030-828A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,10.4,0.002,1KG_SAS_AF,COL4A4
469986,2:227965269:A>G,NM_000092.4:c.1030-864T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,1.232,0.001,1KG_EUR_AF,COL4A4
469987,2:227965280:C>T,NM_000092.4:c.1030-875G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.173,\N,\N,COL4A4
469988,2:227965328:G>A,NM_000092.4:c.1029+892C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,1.551,0.001,1KG_SAS_AF,COL4A4
469989,2:227965328:G>C,NM_000092.4:c.1029+892C>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.32,\N,\N,COL4A4
469990,2:227965426:C>A,NM_000092.4:c.1029+794G>T,\N,\N,17/47,Unknown significance,\N,intron_variant,3.181,\N,\N,COL4A4
469991,2:227965452:T>C,NM_000092.4:c.1029+768A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.154,0.0008,1KG_AFR_AF,COL4A4
469992,2:227965456:C>T,NM_000092.4:c.1029+764G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,1.703,0.001,1KG_EUR_AF,COL4A4
469993,2:227965466:G>A,NM_000092.4:c.1029+754C>T,\N,\N,17/47,Benign,\N,intron_variant,1.466,0.0072,1KG_AMR_AF,COL4A4
469994,2:227965497:TG>T,NM_000092.4:c.1029+722del,\N,\N,17/47,Benign,\N,intron_variant,2.701,0.2361,1KG_EAS_AF,COL4A4
469995,2:227965505:G>A,NM_000092.4:c.1029+715C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,1.978,0.003,1KG_AFR_AF,COL4A4
469996,2:227965524:C>CT,NM_000092.4:c.1029+695dup,\N,\N,17/47,Unknown significance,\N,intron_variant,3.494,\N,\N,COL4A4
469997,2:227965524:CT>C,NM_000092.4:c.1029+695del,\N,\N,17/47,Benign,\N,intron_variant,5.161,0.3911,1KG_AFR_AF,COL4A4
469998,2:227965552:A>G,NM_000092.4:c.1029+668T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,0.376,\N,\N,COL4A4
469999,2:227965553:C>T,NM_000092.4:c.1029+667G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,1.336,0.003,1KG_AFR_AF,COL4A4
470000,2:227965559:T>C,NM_000092.4:c.1029+661A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.153,\N,\N,COL4A4
470001,2:227965560:G>T,NM_000092.4:c.1029+660C>A,\N,\N,17/47,Benign,\N,intron_variant,0.089,0.0923,1KG_AFR_AF,COL4A4
470002,2:227965572:G>A,NM_000092.4:c.1029+648C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,1.194,0.0008,1KG_AFR_AF,COL4A4
470003,2:227965573:T>A,NM_000092.4:c.1029+647A>T,\N,\N,17/47,Unknown significance,\N,intron_variant,4.438,\N,\N,COL4A4
470004,2:227965573:T>C,NM_000092.4:c.1029+647A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.991,\N,\N,COL4A4
470005,2:227965575:C>T,NM_000092.4:c.1029+645G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.192,0.0008,1KG_AFR_AF,COL4A4
470006,2:227965597:T>G,NM_000092.4:c.1029+623A>C,\N,\N,17/47,Unknown significance,\N,intron_variant,1.851,0.001,1KG_SAS_AF,COL4A4
470007,2:227965607:A>T,NM_000092.4:c.1029+613T>A,\N,\N,17/47,Benign,\N,intron_variant,0.571,0.0545,1KG_AFR_AF,COL4A4
470008,2:227965609:C>T,NM_000092.4:c.1029+611G>A,\N,\N,17/47,Benign,\N,intron_variant,1.253,0.0537,1KG_AFR_AF,COL4A4
470009,2:227965614:A>G,NM_000092.4:c.1029+606T>C,\N,\N,17/47,Benign,\N,intron_variant,0.223,0.0537,1KG_AFR_AF,COL4A4
470010,2:227965664:G>A,NM_000092.4:c.1029+556C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,1.328,\N,\N,COL4A4
470011,2:227965665:C>T,NM_000092.4:c.1029+555G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.234,0.0008,1KG_AFR_AF,COL4A4
470012,2:227965669:C>G,NM_000092.4:c.1029+551G>C,\N,\N,17/47,Unknown significance,\N,intron_variant,0.061,0.001,1KG_EAS_AF,COL4A4
470013,2:227965670:A>G,NM_000092.4:c.1029+550T>C,\N,\N,17/47,Benign,\N,intron_variant,0.831,0.0061,1KG_SAS_AF,COL4A4
470014,2:227965677:C>T,NM_000092.4:c.1029+543G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.183,\N,\N,COL4A4
470015,2:227965678:G>A,NM_000092.4:c.1029+542C>T,\N,\N,17/47,Benign,\N,intron_variant,1.396,0.0371,1KG_AFR_AF,COL4A4
470016,2:227965705:T>G,NM_000092.4:c.1029+515A>C,\N,\N,17/47,Unknown significance,\N,intron_variant,6.207,0.001,1KG_EAS_AF,COL4A4
470017,2:227965710:G>C,NM_000092.4:c.1029+510C>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.043,0.0008,1KG_AFR_AF,COL4A4
470018,2:227965714:C>T,NM_000092.4:c.1029+506G>A,\N,\N,17/47,Benign,\N,intron_variant,3.297,0.0053,1KG_AFR_AF,COL4A4
470019,2:227965715:G>A,NM_000092.4:c.1029+505C>T,\N,\N,17/47,Benign,\N,intron_variant,2.85,0.0069,1KG_EAS_AF,COL4A4
470020,2:227965725:T>C,NM_000092.4:c.1029+495A>G,\N,\N,17/47,Benign,\N,intron_variant,1.196,0.0079,1KG_EAS_AF,COL4A4
470021,2:227965728:G>T,NM_000092.4:c.1029+492C>A,\N,\N,17/47,Benign,\N,intron_variant,0.491,0.0083,1KG_AFR_AF,COL4A4
470022,2:227965731:A>G,NM_000092.4:c.1029+489T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,2.072,0.001,1KG_SAS_AF,COL4A4
470023,2:227965761:T>C,NM_000092.4:c.1029+459A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.98,\N,\N,COL4A4
470024,2:227965770:C>T,NM_000092.4:c.1029+450G>A,\N,\N,17/47,Benign,\N,intron_variant,0.02,0.0102,1KG_SAS_AF,COL4A4
470025,2:227965775:C>T,NM_000092.4:c.1029+445G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.028,0.0008,1KG_AFR_AF,COL4A4
470026,2:227965804:T>A,NM_000092.4:c.1029+416A>T,\N,\N,17/47,Unknown significance,\N,intron_variant,0.782,0.0029,1KG_AMR_AF,COL4A4
470027,2:227965814:A>G,NM_000092.4:c.1029+406T>C,\N,\N,17/47,Unknown significance,\N,intron_variant,0.303,0.002,1KG_EAS_AF,COL4A4
470028,2:227965815:C>T,NM_000092.4:c.1029+405G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.209,0.001,1KG_EUR_AF,COL4A4
470029,2:227965816:G>A,NM_000092.4:c.1029+404C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,0.303,\N,\N,COL4A4
470030,2:227965823:C>T,NM_000092.4:c.1029+397G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.095,0.002,1KG_SAS_AF,COL4A4
470031,2:227965838:C>T,NM_000092.4:c.1029+382G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.51,0.001,1KG_EUR_AF,COL4A4
470032,2:227965882:T>C,NM_000092.4:c.1029+338A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.577,0.004,1KG_EUR_AF,COL4A4
470033,2:227965913:C>T,NM_000092.4:c.1029+307G>A,\N,\N,17/47,Benign,\N,intron_variant,0.086,0.0159,1KG_AFR_AF,COL4A4
470034,2:227965915:T>C,NM_000092.4:c.1029+305A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.567,\N,\N,COL4A4
470035,2:227965928:G>C,NM_000092.4:c.1029+292C>G,\N,\N,17/47,Benign,\N,intron_variant,0.386,0.0106,1KG_AFR_AF,COL4A4
470036,2:227965934:C>T,NM_000092.4:c.1029+286G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,2.914,0.0015,1KG_AFR_AF,COL4A4
470037,2:227965977:C>T,NM_000092.4:c.1029+243G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,7.685,0.001,1KG_SAS_AF,COL4A4
470038,2:227965986:C>T,NM_000092.4:c.1029+234G>A,\N,\N,17/47,Unknown significance,\N,intron_variant,0.823,0.001,1KG_EAS_AF,COL4A4
470039,2:227965998:A>C,NM_000092.4:c.1029+222T>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.016,0.0014,1KG_AMR_AF,COL4A4
470040,2:227966019:T>C,NM_000092.4:c.1029+201A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,3.406,0.001,1KG_SAS_AF,COL4A4
470041,2:227966020:T>C,NM_000092.4:c.1029+200A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,4.051,0.003,1KG_AFR_AF,COL4A4
470042,2:227966039:G>T,NM_000092.4:c.1029+181C>A,\N,\N,17/47,Benign,\N,intron_variant,0.161,0.0112,1KG_SAS_AF,COL4A4
470043,2:227966144:A>C,NM_000092.4:c.1029+76T>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.127,0.0014,1KG_AMR_AF,COL4A4
470044,2:227966148:C>T,NM_000092.4:c.1029+72G>A,\N,\N,17/47,Benign,\N,intron_variant,3.704,0.8328,1KG_AFR_AF,COL4A4
470045,2:227966174:G>C,NM_000092.4:c.1029+46C>G,\N,\N,17/47,Unknown significance,\N,intron_variant,0.192,0.00162602,EXAC_AFR_AF,COL4A4
470046,2:227966196:T>C,NM_000092.4:c.1029+24A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,1.459,\N,\N,COL4A4
470047,2:227966204:T>C,NM_000092.4:c.1029+16A>G,\N,\N,17/47,Unknown significance,\N,intron_variant,3.461,0.0008,1KG_AFR_AF,COL4A4
470048,2:227966207:G>A,NM_000092.4:c.1029+13C>T,\N,\N,17/47,Unknown significance,\N,intron_variant,7.207,0.000201126,EXAC_AFR_AF,COL4A4
470049,2:227966217:T>C,NM_000092.4:c.1029+3A>G,\N,\N,17/47,Unknown significance,\N,splice_region_variant&intron_variant,11.8,0.0000840054,EXAC_SAS_AF,COL4A4
470050,2:227966224:G>A,NM_000092.4:c.1025C>T,NP_000083.3:p.Pro342Leu,17/48,\N,Unknown significance,\N,missense_variant,18.6,\N,\N,COL4A4
470051,2:227966245:C>T,NM_000092.4:c.1004G>A,NP_000083.3:p.Gly335Glu,17/48,\N,Unknown significance,\N,missense_variant,27.4,\N,\N,COL4A4
470052,2:227966249:G>A,NM_000092.4:c.1000C>T,NP_000083.3:p.Pro334Ser,17/48,\N,Unknown significance,\N,missense_variant,23.5,0.0000183298,EXAC_NFE_AF,COL4A4
470053,2:227966249:G>GA,NM_000092.4:c.999dup,NP_000083.3:p.Pro334SerfsTer96,17/48,\N,Unknown significance,\N,frameshift_variant,32,0.0000710429,EXAC_SAS_AF,COL4A4
470054,2:227966258:C>T,NM_000092.4:c.991G>A,NP_000083.3:p.Val331Ile,17/48,\N,Likely benign,\N,missense_variant,2.47,0.000129668,EXAC_EAS_AF,COL4A4
470055,2:227966269:T>C,NM_000092.4:c.980A>G,NP_000083.3:p.Glu327Gly,17/48,\N,Unknown significance,\N,missense_variant,22.7,0.000122911,EVS_EA_AF,COL4A4
470056,2:227966270:C>T,NM_000092.4:c.979G>A,NP_000083.3:p.Glu327Lys,17/48,\N,Likely benign,\N,missense_variant,12.92,0.00012288,EVS_EA_AF,COL4A4
470057,2:227966276:A>G,NM_000092.4:c.976-3T>C,\N,\N,16/47,Unknown significance,\N,splice_region_variant&intron_variant,9.403,0.0000948407,EXAC_AMR_AF,COL4A4
470058,2:227966292:A>G,NM_000092.4:c.976-19T>C,\N,\N,16/47,Unknown significance,\N,intron_variant,9.559,0.000105352,EXAC_AMR_AF,COL4A4
470059,2:227966298:T>A,NM_000092.4:c.976-25A>T,\N,\N,16/47,Unknown significance,\N,intron_variant,4.888,\N,\N,COL4A4
470060,2:227966298:T>TA,NM_000092.4:c.976-26dup,\N,\N,16/47,Benign,\N,intron_variant,1.606,0.6967,1KG_AFR_AF,COL4A4
470061,2:227966298:T>TAA,NM_000092.4:c.976-27_976-26dup,\N,\N,16/47,Benign,\N,intron_variant,1.496,0.0383552,EXAC_SAS_AF,COL4A4
470062,2:227966298:T>TAAA,NM_000092.4:c.976-28_976-26dup,\N,\N,16/47,Unknown significance,\N,intron_variant,1.391,0.000360881,EXAC_EAS_AF,COL4A4
470063,2:227966298:TA>T,NM_000092.4:c.976-26del,\N,\N,16/47,Benign,\N,intron_variant,0.567,0.0215964,EXAC_SAS_AF,COL4A4
470064,2:227966298:TAA>T,NM_000092.4:c.976-27_976-26del,\N,\N,16/47,Unknown significance,\N,intron_variant,2.995,0.00018044,EXAC_EAS_AF,COL4A4
470065,2:227966299:A>T,NM_000092.4:c.976-26T>A,\N,\N,16/47,Unknown significance,\N,intron_variant,0.11,\N,\N,COL4A4
470066,2:227966300:A>T,NM_000092.4:c.976-27T>A,\N,\N,16/47,Unknown significance,\N,intron_variant,1.052,0.0000225438,EXAC_NFE_AF,COL4A4
470067,2:227966314:C>G,NM_000092.4:c.976-41G>C,\N,\N,16/47,Unknown significance,\N,intron_variant,3.068,0.000817439,EVS_AA_AF,COL4A4
470068,2:227966316:G>A,NM_000092.4:c.976-43C>T,\N,\N,16/47,Unknown significance,\N,intron_variant,5.78,0.000122279,EVS_EA_AF,COL4A4
470069,2:227966317:G>A,NM_000092.4:c.976-44C>T,\N,\N,16/47,Unknown significance,\N,intron_variant,3.163,0.000101317,EXAC_AMR_AF,COL4A4
470070,2:227966318:G>T,NM_000092.4:c.976-45C>A,\N,\N,16/47,Unknown significance,\N,intron_variant,2.773,0.000101543,EXAC_AMR_AF,COL4A4
470071,2:227966349:A>C,NM_000092.4:c.976-76T>G,\N,\N,16/47,Unknown significance,\N,intron_variant,2.333,\N,\N,COL4A4
470072,2:227966484:T>C,NM_000092.4:c.975+97A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,16.33,\N,\N,COL4A4
470073,2:227966490:T>C,NM_000092.4:c.975+91A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,9.279,\N,\N,COL4A4
470074,2:227966499:G>A,NM_000092.4:c.975+82C>T,\N,\N,16/47,Unknown significance,\N,intron_variant,2.874,0.001,1KG_EAS_AF,COL4A4
470075,2:227966532:C>A,NM_000092.4:c.975+49G>T,\N,\N,16/47,Unknown significance,\N,intron_variant,5.659,0.000544662,EXAC_EAS_AF,COL4A4
470076,2:227966533:AT>A,NM_000092.4:c.975+47del,\N,\N,16/47,Unknown significance,\N,intron_variant,4.917,\N,\N,COL4A4
470077,2:227966539:T>G,NM_000092.4:c.975+42A>C,\N,\N,16/47,Unknown significance,\N,intron_variant,5.912,0.000532481,EXAC_EAS_AF,COL4A4
470078,2:227966542:T>C,NM_000092.4:c.975+39A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,6.648,\N,\N,COL4A4
470079,2:227966543:G>A,NM_000092.4:c.975+38C>T,\N,\N,16/47,Unknown significance,\N,intron_variant,7.013,0.000526316,EXAC_EAS_AF,COL4A4
470080,2:227966547:T>C,NM_000092.4:c.975+34A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,7.043,0.000510725,EXAC_EAS_AF,COL4A4
470081,2:227966559:C>T,NM_000092.4:c.975+22G>A,\N,\N,16/47,Unknown significance,\N,intron_variant,5.676,0.0000583771,EXAC_NFE_AF,COL4A4
470082,2:227966560:T>C,NM_000092.4:c.975+21A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,5.424,0.000334896,EXAC_AMR_AF,COL4A4
470083,2:227966562:TATA>T,NM_000092.4:c.975+16_975+18del,\N,\N,16/47,Unknown significance,\N,intron_variant,5.184,0.000326726,EXAC_SAS_AF,COL4A4
470084,2:227966564:T>C,NM_000092.4:c.975+17A>G,\N,\N,16/47,Unknown significance,\N,intron_variant,0.97,0.000111483,EXAC_NFE_AF,COL4A4
470085,2:227966573:A>G,NM_000092.4:c.975+8T>C,\N,\N,16/47,Unknown significance,\N,splice_region_variant&intron_variant,1.421,\N,\N,COL4A4
470086,2:227966581:C>A,NM_000092.4:c.975G>T,NP_000083.3:p.Lys325Asn,16/48,\N,Pathogenic,Alport syndrome,missense_variant&splice_region_variant,33,\N,\N,COL4A4
470087,2:227966584:T>G,NM_000092.4:c.972A>C,NP_000083.3:p.Leu324Phe,16/48,\N,Likely benign,\N,missense_variant,23.3,0.001,1KG_SAS_AF,COL4A4
470088,2:227966594:A>G,NM_000092.4:c.962T>C,NP_000083.3:p.Phe321Ser,16/48,\N,Unknown significance,\N,missense_variant,24.3,0.000171585,EXAC_AMR_AF,COL4A4
470089,2:227966608:A>G,NM_000092.4:c.948T>C,NP_000083.3:p.Tyr316=,16/48,\N,Benign,\N,synonymous_variant,4.16,0.1293,1KG_AFR_AF,COL4A4
470090,2:227966609:T>C,NM_000092.4:c.947A>G,NP_000083.3:p.Tyr316Cys,16/48,\N,Unknown significance,\N,missense_variant,21.3,0.0000361899,EXAC_NFE_AF,COL4A4
470091,2:227966616:C>A,NM_000092.4:c.940G>T,NP_000083.3:p.Gly314Cys,16/48,\N,Pathogenic,Alport syndrome,missense_variant,34,\N,\N,COL4A4
470092,2:227966623:C>T,NM_000092.4:c.933G>A,NP_000083.3:p.Gly311=,16/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.43,0.0000356354,EXAC_NFE_AF,COL4A4
470093,2:227966626:C>G,NM_000092.4:c.931-1G>C,\N,\N,15/47,Unknown significance,\N,splice_acceptor_variant,25.9,0.00012279,EVS_EA_AF,COL4A4
470094,2:227966635:T>G,NM_000092.4:c.931-10A>C,\N,\N,15/47,Unknown significance,\N,intron_variant,16.65,\N,\N,COL4A4
470095,2:227966638:C>CA,NM_000092.4:c.931-14dup,\N,\N,15/47,Unknown significance,\N,intron_variant,15.44,0.000145964,EXAC_NFE_AF,COL4A4
470096,2:227966638:C>T,NM_000092.4:c.931-13G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,14.53,0.000036491,EXAC_NFE_AF,COL4A4
470097,2:227966648:G>A,NM_000092.4:c.931-23C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,11.5,0.000093214,EXAC_SAS_AF,COL4A4
470098,2:227966648:G>T,NM_000092.4:c.931-23C>A,\N,\N,15/47,Unknown significance,\N,intron_variant,9.877,0.00012276,EVS_EA_AF,COL4A4
470099,2:227966650:T>A,NM_000092.4:c.931-25A>T,\N,\N,15/47,Unknown significance,\N,intron_variant,10.53,0.0000941088,EXAC_SAS_AF,COL4A4
470100,2:227966654:C>T,NM_000092.4:c.931-29G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,3.731,0.00027533,EVS_AA_AF,COL4A4
470101,2:227966657:A>T,NM_000092.4:c.931-32T>A,\N,\N,15/47,Unknown significance,\N,intron_variant,1.356,\N,\N,COL4A4
470102,2:227966660:T>A,NM_000092.4:c.931-35A>T,\N,\N,15/47,Unknown significance,\N,intron_variant,7.996,0.000224115,EXAC_EAS_AF,COL4A4
470103,2:227966670:T>C,NM_000092.4:c.931-45A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,5.654,0.0000422404,EXAC_NFE_AF,COL4A4
470104,2:227966684:C>T,NM_000092.4:c.931-59G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,10.3,\N,\N,COL4A4
470105,2:227966691:T>G,NM_000092.4:c.931-66A>C,\N,\N,15/47,Unknown significance,\N,intron_variant,11.98,\N,\N,COL4A4
470106,2:227966706:T>C,NM_000092.4:c.931-81A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,3.095,0.0008,1KG_AFR_AF,COL4A4
470107,2:227966716:C>T,NM_000092.4:c.931-91G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,7.032,0.0014,1KG_AMR_AF,COL4A4
470108,2:227966841:C>A,NM_000092.4:c.931-216G>T,\N,\N,15/47,Benign,\N,intron_variant,3.677,0.0069,1KG_EAS_AF,COL4A4
470109,2:227966879:C>T,NM_000092.4:c.931-254G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,2.708,0.003,1KG_AFR_AF,COL4A4
470110,2:227966880:G>A,NM_000092.4:c.931-255C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,1.579,0.001,1KG_SAS_AF,COL4A4
470111,2:227966908:C>G,NM_000092.4:c.931-283G>C,\N,\N,15/47,Unknown significance,\N,intron_variant,10.46,\N,\N,COL4A4
470112,2:227966916:T>C,NM_000092.4:c.931-291A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,14.67,0.0008,1KG_AFR_AF,COL4A4
470113,2:227966977:G>T,NM_000092.4:c.931-352C>A,\N,\N,15/47,Unknown significance,\N,intron_variant,15.34,\N,\N,COL4A4
470114,2:227966985:C>G,NM_000092.4:c.931-360G>C,\N,\N,15/47,Benign,\N,intron_variant,7.752,0.0091,1KG_AFR_AF,COL4A4
470115,2:227967023:T>G,NM_000092.4:c.931-398A>C,\N,\N,15/47,Benign,\N,intron_variant,3.25,0.6918,1KG_EUR_AF,COL4A4
470116,2:227967026:C>T,NM_000092.4:c.931-401G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,5.087,\N,\N,COL4A4
470117,2:227967077:C>T,NM_000092.4:c.930+428G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,0.68,0.0014,1KG_AMR_AF,COL4A4
470118,2:227967078:G>A,NM_000092.4:c.930+427C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,4.441,\N,\N,COL4A4
470119,2:227967105:G>A,NM_000092.4:c.930+400C>T,\N,\N,15/47,Benign,\N,intron_variant,1.838,0.6918,1KG_EUR_AF,COL4A4
470120,2:227967150:T>C,NM_000092.4:c.930+355A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,2.949,0.001,1KG_SAS_AF,COL4A4
470121,2:227967172:G>A,NM_000092.4:c.930+333C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,2.651,\N,\N,COL4A4
470122,2:227967231:T>C,NM_000092.4:c.930+274A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,1.533,\N,\N,COL4A4
470123,2:227967243:C>A,NM_000092.4:c.930+262G>T,\N,\N,15/47,Unknown significance,\N,intron_variant,6.354,0.0008,1KG_AFR_AF,COL4A4
470124,2:227967244:T>C,NM_000092.4:c.930+261A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,8.656,0.001,1KG_EAS_AF,COL4A4
470125,2:227967256:C>T,NM_000092.4:c.930+249G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,9.681,\N,\N,COL4A4
470126,2:227967261:G>C,NM_000092.4:c.930+244C>G,\N,\N,15/47,Unknown significance,\N,intron_variant,7.412,\N,\N,COL4A4
470127,2:227967265:G>C,NM_000092.4:c.930+240C>G,\N,\N,15/47,Benign,\N,intron_variant,0.327,0.9766,1KG_AFR_AF,COL4A4
470128,2:227967275:G>A,NM_000092.4:c.930+230C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,3.811,0.0023,1KG_AFR_AF,COL4A4
470129,2:227967287:A>C,NM_000092.4:c.930+218T>G,\N,\N,15/47,Unknown significance,\N,intron_variant,1.25,0.0008,1KG_AFR_AF,COL4A4
470130,2:227967309:C>T,NM_000092.4:c.930+196G>A,\N,\N,15/47,Unknown significance,\N,intron_variant,4.908,0.001,1KG_EAS_AF,COL4A4
470131,2:227967310:C>G,NM_000092.4:c.930+195G>C,\N,\N,15/47,Unknown significance,\N,intron_variant,3.623,0.0008,1KG_AFR_AF,COL4A4
470132,2:227967322:A>G,NM_000092.4:c.930+183T>C,\N,\N,15/47,Unknown significance,\N,intron_variant,4.919,\N,\N,COL4A4
470133,2:227967330:C>A,NM_000092.4:c.930+175G>T,\N,\N,15/47,Unknown significance,\N,intron_variant,4.824,\N,\N,COL4A4
470134,2:227967330:C>G,NM_000092.4:c.930+175G>C,\N,\N,15/47,Benign,\N,intron_variant,4.008,0.6909,1KG_EUR_AF,COL4A4
470135,2:227967337:A>G,NM_000092.4:c.930+168T>C,\N,\N,15/47,Unknown significance,\N,intron_variant,5.712,0.001,1KG_EAS_AF,COL4A4
470136,2:227967355:T>C,NM_000092.4:c.930+150A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,1.239,\N,\N,COL4A4
470137,2:227967374:G>A,NM_000092.4:c.930+131C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,1.844,0.003,1KG_AFR_AF,COL4A4
470138,2:227967383:G>A,NM_000092.4:c.930+122C>T,\N,\N,15/47,Unknown significance,\N,intron_variant,2.9,0.003,1KG_AFR_AF,COL4A4
470139,2:227967445:T>C,NM_000092.4:c.930+60A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,1.734,\N,\N,COL4A4
470140,2:227967462:AAT>A,NM_000092.4:c.930+41_930+42del,\N,\N,15/47,Unknown significance,\N,intron_variant,1.992,0.0000449627,EXAC_NFE_AF,COL4A4
470141,2:227967463:A>G,NM_000092.4:c.930+42T>C,\N,\N,15/47,Unknown significance,\N,intron_variant,0.307,0.0000149889,EXAC_NFE_AF,COL4A4
470142,2:227967466:T>C,NM_000092.4:c.930+39A>G,\N,\N,15/47,Unknown significance,\N,intron_variant,1.91,0.002,1KG_SAS_AF,COL4A4
470143,2:227967494:A>G,NM_000092.4:c.930+11T>C,\N,\N,15/47,Unknown significance,\N,intron_variant,2.713,0.00145349,EXAC_SAS_AF,COL4A4
470144,2:227967503:ACCCGAGGCCCTGGAAAT>A,NM_000092.4:c.915_930+1del,\N,15/48,15/47,Pathogenic,Alport syndrome,splice_donor_variant&coding_sequence_variant,27.1,\N,\N,COL4A4
470145,2:227967506:C>T,NM_000092.4:c.929G>A,NP_000083.3:p.Arg310Gln,15/48,\N,Likely benign,\N,missense_variant&splice_region_variant,22.4,0.00127581,EXAC_EAS_AF,COL4A4
470146,2:227967507:G>A,NM_000092.4:c.928C>T,NP_000083.3:p.Arg310Trp,15/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.6,0.001,1KG_EUR_AF,COL4A4
470147,2:227967509:G>T,NM_000092.4:c.926C>A,NP_000083.3:p.Pro309His,15/48,\N,Likely benign,\N,missense_variant,23.5,0.0000749266,EXAC_NFE_AF,COL4A4
470148,2:227967516:G>A,NM_000092.4:c.919C>T,NP_000083.3:p.Pro307Ser,15/48,\N,Likely pathogenic,Alport syndrome,missense_variant,23.4,\N,\N,COL4A4
470149,2:227967529:A>C,NM_000092.4:c.906T>G,NP_000083.3:p.Gly302=,15/48,\N,Unknown significance,\N,synonymous_variant,0.002,\N,\N,COL4A4
470150,2:227967530:C>G,NM_000092.4:c.905G>C,NP_000083.3:p.Gly302Ala,15/48,\N,Unknown significance,\N,missense_variant,25.9,0.0000149849,EXAC_NFE_AF,COL4A4
470151,2:227967534:T>C,NM_000092.4:c.901A>G,NP_000083.3:p.Lys301Glu,15/48,\N,Unknown significance,\N,missense_variant,20.6,0.0000299688,EXAC_NFE_AF,COL4A4
470152,2:227967540:C>T,NM_000092.4:c.895G>A,NP_000083.3:p.Gly299Arg,15/48,\N,Unknown significance,\N,missense_variant,32,0.0000863856,EXAC_AMR_AF,COL4A4
470153,2:227967541:T>C,NM_000092.4:c.894A>G,NP_000083.3:p.Lys298=,15/48,\N,Unknown significance,\N,synonymous_variant,2.461,0.00010202,EXAC_AFR_AF,COL4A4
470154,2:227967547:C>T,NM_000092.4:c.888G>A,NP_000083.3:p.Gly296=,15/48,\N,Unknown significance,\N,synonymous_variant,12.95,0.000345543,EXAC_AMR_AF,COL4A4
470155,2:227967551:A>G,NM_000092.4:c.884T>C,NP_000083.3:p.Ile295Thr,15/48,\N,Likely benign,\N,missense_variant,6.049,0.0000149849,EXAC_NFE_AF,COL4A4
470156,2:227967552:T>C,NM_000092.4:c.883A>G,NP_000083.3:p.Ile295Val,15/48,\N,Likely benign,\N,missense_variant,0.563,\N,\N,COL4A4
470157,2:227967553:A>G,NM_000092.4:c.882T>C,NP_000083.3:p.Gly294=,15/48,\N,Unknown significance,\N,synonymous_variant,0.834,\N,\N,COL4A4
470158,2:227967564:C>T,NM_000092.4:c.871G>A,NP_000083.3:p.Gly291Arg,15/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000122579,EVS_EA_AF,COL4A4
470159,2:227967565:C>G,NM_000092.4:c.871-1G>C,\N,\N,14/47,Unknown significance,\N,splice_acceptor_variant,25.9,0.000122579,EVS_EA_AF,COL4A4
470160,2:227967570:A>G,NM_000092.4:c.871-6T>C,\N,\N,14/47,Unknown significance,\N,splice_region_variant&intron_variant,13.97,0.00111359,EXAC_OTH_AF,COL4A4
470161,2:227967592:G>A,NM_000092.4:c.871-28C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,10.42,0.0000884173,EXAC_AMR_AF,COL4A4
470162,2:227967596:A>T,NM_000092.4:c.871-32T>A,\N,\N,14/47,Unknown significance,\N,intron_variant,15.41,0.000319693,EXAC_SAS_AF,COL4A4
470163,2:227967598:GCAA>G,NM_000092.4:c.871-37_871-35del,\N,\N,14/47,Unknown significance,\N,intron_variant,19.23,\N,\N,COL4A4
470164,2:227967601:A>ACAATATTTCAGCAATAGGGAAAG,NM_000092.4:c.871-60_871-38dup,\N,\N,14/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470165,2:227967601:ACAATATTTCAGCAATAGGGAAAG>A,NM_000092.4:c.871-60_871-38del,\N,\N,14/47,Benign,\N,intron_variant,19.2,0.6918,1KG_EUR_AF,COL4A4
470166,2:227967605:TATTTCAGCAATAGGGAAAGC>T,NM_000092.4:c.871-61_871-42del,\N,\N,14/47,Unknown significance,\N,intron_variant,19.51,\N,\N,COL4A4
470167,2:227967610:C>T,NM_000092.4:c.871-46G>A,\N,\N,14/47,Unknown significance,\N,intron_variant,17.45,0.000328947,EXAC_AMR_AF,COL4A4
470168,2:227967615:AT>A,NM_000092.4:c.871-52del,\N,\N,14/47,Unknown significance,\N,intron_variant,13.98,\N,\N,COL4A4
470169,2:227967624:G>A,NM_000092.4:c.871-60C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,15.21,\N,\N,COL4A4
470170,2:227967625:C>A,NM_000092.4:c.871-61G>T,\N,\N,14/47,Unknown significance,\N,intron_variant,14.03,\N,\N,COL4A4
470171,2:227967644:A>G,NM_000092.4:c.871-80T>C,\N,\N,14/47,Unknown significance,\N,intron_variant,10.5,0.0015,1KG_AFR_AF,COL4A4
470172,2:227967666:A>G,NM_000092.4:c.871-102T>C,\N,\N,14/47,Benign,\N,intron_variant,8.108,0.0144,1KG_AFR_AF,COL4A4
470173,2:227967698:T>C,NM_000092.4:c.871-134A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,3.921,\N,\N,COL4A4
470174,2:227967699:A>G,NM_000092.4:c.871-135T>C,\N,\N,14/47,Unknown significance,\N,intron_variant,4.532,0.0008,1KG_AFR_AF,COL4A4
470175,2:227967721:G>A,NM_000092.4:c.870+139C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,3.292,0.0014,1KG_AMR_AF,COL4A4
470176,2:227967722:T>C,NM_000092.4:c.870+138A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,2.408,0.0008,1KG_AFR_AF,COL4A4
470177,2:227967735:T>C,NM_000092.4:c.870+125A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,0.755,0.001,1KG_SAS_AF,COL4A4
470178,2:227967783:G>A,NM_000092.4:c.870+77C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,2.867,0.0008,1KG_AFR_AF,COL4A4
470179,2:227967813:T>C,NM_000092.4:c.870+47A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,3.433,0.0000151897,EXAC_NFE_AF,COL4A4
470180,2:227967815:G>T,NM_000092.4:c.870+45C>A,\N,\N,14/47,Unknown significance,\N,intron_variant,1.797,0.0000874126,EXAC_AMR_AF,COL4A4
470181,2:227967818:C>T,NM_000092.4:c.870+42G>A,\N,\N,14/47,Unknown significance,\N,intron_variant,0.982,\N,\N,COL4A4
470182,2:227967821:C>A,NM_000092.4:c.870+39G>T,\N,\N,14/47,Unknown significance,\N,intron_variant,5.739,0.0000160798,EXAC_NFE_AF,COL4A4
470183,2:227967830:G>A,NM_000092.4:c.870+30C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,0.207,0.002,1KG_SAS_AF,COL4A4
470184,2:227967830:G>GA,NM_000092.4:c.870+29dup,\N,\N,14/47,Benign,\N,intron_variant,0.175,0.0226629,EXAC_EAS_AF,COL4A4
470185,2:227967830:GA>G,NM_000092.4:c.870+29del,\N,\N,14/47,Benign,\N,intron_variant,0.095,0.745849,EXAC_AFR_AF,COL4A4
470186,2:227967830:GAA>G,NM_000092.4:c.870+28_870+29del,\N,\N,14/47,Benign,\N,intron_variant,0.238,0.0116842,EXAC_NFE_AF,COL4A4
470187,2:227967831:A>T,NM_000092.4:c.870+29T>A,\N,\N,14/47,Benign,\N,intron_variant,0.538,0.00909091,EXAC_SAS_AF,COL4A4
470188,2:227967832:A>C,NM_000092.4:c.870+28T>G,\N,\N,14/47,Unknown significance,\N,intron_variant,0.812,\N,\N,COL4A4
470189,2:227967837:A>G,NM_000092.4:c.870+23T>C,\N,\N,14/47,Unknown significance,\N,intron_variant,0.724,0.0000150105,EXAC_NFE_AF,COL4A4
470190,2:227967838:A>C,NM_000092.4:c.870+22T>G,\N,\N,14/47,Unknown significance,\N,intron_variant,0.405,0.0000150096,EXAC_NFE_AF,COL4A4
470191,2:227967840:AAG>A,NM_000092.4:c.870+18_870+19del,\N,\N,14/47,Unknown significance,\N,intron_variant,0.302,\N,\N,COL4A4
470192,2:227967841:A>AAG,NM_000092.4:c.870+18_870+19insCT,\N,\N,14/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470193,2:227967841:AG>A,NM_000092.4:c.870+18del,\N,\N,14/47,Unknown significance,\N,intron_variant,0.045,0.0000150313,EXAC_NFE_AF,COL4A4
470194,2:227967842:G>A,NM_000092.4:c.870+18C>T,\N,\N,14/47,Unknown significance,\N,intron_variant,0.53,0.0000865651,EXAC_AMR_AF,COL4A4
470195,2:227967842:G>C,NM_000092.4:c.870+18C>G,\N,\N,14/47,Unknown significance,\N,intron_variant,0.039,0.000519391,EXAC_AMR_AF,COL4A4
470196,2:227967844:T>C,NM_000092.4:c.870+16A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,0.582,0.000151378,EXAC_FIN_AF,COL4A4
470197,2:227967847:T>A,NM_000092.4:c.870+13A>T,\N,\N,14/47,Unknown significance,\N,intron_variant,11.68,0.000484966,EXAC_SAS_AF,COL4A4
470198,2:227967847:T>C,NM_000092.4:c.870+13A>G,\N,\N,14/47,Unknown significance,\N,intron_variant,10.1,0.0000606208,EXAC_SAS_AF,COL4A4
470199,2:227967856:C>T,NM_000092.4:c.870+4G>A,\N,\N,14/47,Unknown significance,\N,splice_region_variant&intron_variant,8.126,0.00034827,EXAC_EAS_AF,COL4A4
470200,2:227967864:C>T,NM_000092.4:c.866G>A,NP_000083.3:p.Arg289His,14/48,\N,Likely benign,\N,missense_variant,20.9,0.0029,1KG_AMR_AF,COL4A4
470201,2:227967865:G>A,NM_000092.4:c.865C>T,NP_000083.3:p.Arg289Cys,14/48,\N,Unknown significance,\N,missense_variant,25.7,0.0008,1KG_AFR_AF,COL4A4
470202,2:227967869:T>C,NM_000092.4:c.861A>G,NP_000083.3:p.Pro287=,14/48,\N,Unknown significance,\N,synonymous_variant,7.889,\N,\N,COL4A4
470203,2:227967870:G>C,NM_000092.4:c.860C>G,NP_000083.3:p.Pro287Arg,14/48,\N,Unknown significance,\N,missense_variant,8.059,0.000015002,EXAC_NFE_AF,COL4A4
470204,2:227967872:T>C,NM_000092.4:c.858A>G,NP_000083.3:p.Pro286=,14/48,\N,Unknown significance,\N,synonymous_variant,8.224,0.000122339,EVS_EA_AF,COL4A4
470205,2:227967878:T>C,NM_000092.4:c.852A>G,NP_000083.3:p.Pro284=,14/48,\N,Unknown significance,\N,synonymous_variant,7.3,0.0000605987,EXAC_SAS_AF,COL4A4
470206,2:227967884:T>C,NM_000092.4:c.846A>G,NP_000083.3:p.Gly282=,14/48,\N,Unknown significance,\N,synonymous_variant,7.785,0.0008,1KG_AFR_AF,COL4A4
470207,2:227967902:T>C,NM_000092.4:c.828A>G,NP_000083.3:p.Gly276=,14/48,\N,Unknown significance,\N,synonymous_variant,7.636,0.0000864902,EXAC_AMR_AF,COL4A4
470208,2:227967903:C>G,NM_000092.4:c.827G>C,NP_000083.3:p.Gly276Ala,14/48,\N,Unknown significance,\N,missense_variant,25,0.001,1KG_EAS_AF,COL4A4
470209,2:227967910:T>C,NM_000092.4:c.820A>G,NP_000083.3:p.Ile274Val,14/48,\N,Likely benign,\N,missense_variant,3.155,0.000015015,EXAC_NFE_AF,COL4A4
470210,2:227967911:A>G,NM_000092.4:c.819T>C,NP_000083.3:p.Gly273=,14/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.9,0.000015015,EXAC_NFE_AF,COL4A4
470211,2:227967913:C>T,NM_000092.4:c.817G>A,NP_000083.3:p.Gly273Ser,14/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.8,0.000060687,EXAC_SAS_AF,COL4A4
470212,2:227967927:T>C,NM_000092.4:c.817-14A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,8.371,\N,\N,COL4A4
470213,2:227967930:A>G,NM_000092.4:c.817-17T>C,\N,\N,13/47,Unknown significance,\N,intron_variant,9.197,0.0000301668,EXAC_NFE_AF,COL4A4
470214,2:227967944:A>C,NM_000092.4:c.817-31T>G,\N,\N,13/47,Unknown significance,\N,intron_variant,6.381,0.0000151359,EXAC_NFE_AF,COL4A4
470215,2:227967950:AT>A,NM_000092.4:c.817-38del,\N,\N,13/47,Unknown significance,\N,intron_variant,11.83,0.0000151639,EXAC_NFE_AF,COL4A4
470216,2:227967950:ATTAT>A,NM_000092.4:c.817-41_817-38del,\N,\N,13/47,Unknown significance,\N,intron_variant,13.26,0.000136475,EXAC_NFE_AF,COL4A4
470217,2:227967951:T>C,NM_000092.4:c.817-38A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,10.75,0.0000151662,EXAC_NFE_AF,COL4A4
470218,2:227967963:C>A,NM_000092.4:c.817-50G>T,\N,\N,13/47,Unknown significance,\N,intron_variant,1.8,0.000277316,EVS_AA_AF,COL4A4
470219,2:227967992:C>G,NM_000092.4:c.817-79G>C,\N,\N,13/47,Unknown significance,\N,intron_variant,1.648,0.001,1KG_SAS_AF,COL4A4
470220,2:227968000:A>C,NM_000092.4:c.817-87T>G,\N,\N,13/47,Benign,\N,intron_variant,0.706,0.0303,1KG_AFR_AF,COL4A4
470221,2:227968014:T>TA,NM_000092.4:c.817-102dup,\N,\N,13/47,Unknown significance,\N,intron_variant,1.583,\N,\N,COL4A4
470222,2:227968014:TA>T,NM_000092.4:c.817-102del,\N,\N,13/47,Unknown significance,\N,intron_variant,5.514,\N,\N,COL4A4
470223,2:227968015:A>T,NM_000092.4:c.817-102T>A,\N,\N,13/47,Unknown significance,\N,intron_variant,2.487,0.001,1KG_EAS_AF,COL4A4
470224,2:227968021:A>G,NM_000092.4:c.817-108T>C,\N,\N,13/47,Unknown significance,\N,intron_variant,0.678,0.002,1KG_EAS_AF,COL4A4
470225,2:227968028:T>G,NM_000092.4:c.817-115A>C,\N,\N,13/47,Unknown significance,\N,intron_variant,2.695,0.0008,1KG_AFR_AF,COL4A4
470226,2:227968033:A>G,NM_000092.4:c.817-120T>C,\N,\N,13/47,Benign,\N,intron_variant,0.85,0.0915,1KG_AFR_AF,COL4A4
470227,2:227968046:C>T,NM_000092.4:c.817-133G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,3.044,0.0008,1KG_AFR_AF,COL4A4
470228,2:227968068:T>A,NM_000092.4:c.817-155A>T,\N,\N,13/47,Unknown significance,\N,intron_variant,2.252,\N,\N,COL4A4
470229,2:227968098:ATG>A,NM_000092.4:c.817-187_817-186del,\N,\N,13/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470230,2:227968121:A>G,NM_000092.4:c.817-208T>C,\N,\N,13/47,Unknown significance,\N,intron_variant,3.226,0.0043,1KG_AMR_AF,COL4A4
470231,2:227968133:G>A,NM_000092.4:c.817-220C>T,\N,\N,13/47,Benign,\N,intron_variant,4.459,0.0424,1KG_AFR_AF,COL4A4
470232,2:227968197:G>A,NM_000092.4:c.817-284C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,4.644,0.0014,1KG_AMR_AF,COL4A4
470233,2:227968220:T>G,NM_000092.4:c.817-307A>C,\N,\N,13/47,Benign,\N,intron_variant,6.517,0.7292,1KG_AFR_AF,COL4A4
470234,2:227968221:G>A,NM_000092.4:c.817-308C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,1.832,0.002,1KG_SAS_AF,COL4A4
470235,2:227968241:T>G,NM_000092.4:c.817-328A>C,\N,\N,13/47,Benign,\N,intron_variant,5.509,0.7428,1KG_AFR_AF,COL4A4
470236,2:227968277:C>T,NM_000092.4:c.817-364G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,12,0.0008,1KG_AFR_AF,COL4A4
470237,2:227968292:T>A,NM_000092.4:c.817-379A>T,\N,\N,13/47,Unknown significance,\N,intron_variant,15.33,0.002,1KG_EAS_AF,COL4A4
470238,2:227968299:G>A,NM_000092.4:c.817-386C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,7.991,0.0014,1KG_AMR_AF,COL4A4
470239,2:227968306:T>A,NM_000092.4:c.816+382A>T,\N,\N,13/47,Unknown significance,\N,intron_variant,6.02,0.002,1KG_EAS_AF,COL4A4
470240,2:227968309:C>T,NM_000092.4:c.816+379G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,0.354,\N,\N,COL4A4
470241,2:227968310:G>A,NM_000092.4:c.816+378C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,1.201,0.0008,1KG_AFR_AF,COL4A4
470242,2:227968326:T>G,NM_000092.4:c.816+362A>C,\N,\N,13/47,Unknown significance,\N,intron_variant,1.011,0.0014,1KG_AMR_AF,COL4A4
470243,2:227968343:T>G,NM_000092.4:c.816+345A>C,\N,\N,13/47,Benign,\N,intron_variant,1.874,0.0051,1KG_SAS_AF,COL4A4
470244,2:227968363:C>G,NM_000092.4:c.816+325G>C,\N,\N,13/47,Unknown significance,\N,intron_variant,2.672,\N,\N,COL4A4
470245,2:227968393:G>A,NM_000092.4:c.816+295C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,3.456,\N,\N,COL4A4
470246,2:227968413:C>T,NM_000092.4:c.816+275G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,0.243,0.001,1KG_EUR_AF,COL4A4
470247,2:227968430:C>T,NM_000092.4:c.816+258G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,2.16,0.001,1KG_EUR_AF,COL4A4
470248,2:227968530:C>T,NM_000092.4:c.816+158G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,1.917,0.001,1KG_SAS_AF,COL4A4
470249,2:227968531:G>A,NM_000092.4:c.816+157C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,1.748,\N,\N,COL4A4
470250,2:227968534:C>T,NM_000092.4:c.816+154G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,2.1,0.001,1KG_EUR_AF,COL4A4
470251,2:227968535:G>A,NM_000092.4:c.816+153C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,2.019,\N,\N,COL4A4
470252,2:227968553:A>C,NM_000092.4:c.816+135T>G,\N,\N,13/47,Benign,\N,intron_variant,0.649,0.6899,1KG_EUR_AF,COL4A4
470253,2:227968563:TA>T,NM_000092.4:c.816+124del,\N,\N,13/47,Benign,\N,intron_variant,6.814,0.0136,1KG_AFR_AF,COL4A4
470254,2:227968583:T>C,NM_000092.4:c.816+105A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,1.489,0.0014,1KG_AMR_AF,COL4A4
470255,2:227968591:T>C,NM_000092.4:c.816+97A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,2.502,0.002,1KG_EAS_AF,COL4A4
470256,2:227968592:G>T,NM_000092.4:c.816+96C>A,\N,\N,13/47,Benign,\N,intron_variant,0.216,0.0371,1KG_AFR_AF,COL4A4
470257,2:227968652:C>T,NM_000092.4:c.816+36G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,5.696,0.000131718,EXAC_EAS_AF,COL4A4
470258,2:227968653:T>C,NM_000092.4:c.816+35A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,4.376,0.000093214,EXAC_AMR_AF,COL4A4
470259,2:227968654:A>C,NM_000092.4:c.816+34T>G,\N,\N,13/47,Unknown significance,\N,intron_variant,4.697,0.0000645161,EXAC_SAS_AF,COL4A4
470260,2:227968658:TC>T,NM_000092.4:c.816+29del,\N,\N,13/47,Unknown significance,\N,intron_variant,2.578,\N,\N,COL4A4
470261,2:227968660:C>G,NM_000092.4:c.816+28G>C,\N,\N,13/47,Unknown significance,\N,intron_variant,1.069,\N,\N,COL4A4
470262,2:227968663:G>A,NM_000092.4:c.816+25C>T,\N,\N,13/47,Unknown significance,\N,intron_variant,4.877,0.0000159811,EXAC_NFE_AF,COL4A4
470263,2:227968668:C>T,NM_000092.4:c.816+20G>A,\N,\N,13/47,Unknown significance,\N,intron_variant,3.264,\N,\N,COL4A4
470264,2:227968669:A>G,NM_000092.4:c.816+19T>C,\N,\N,13/47,Unknown significance,\N,intron_variant,1.599,0.0000898634,EXAC_AMR_AF,COL4A4
470265,2:227968672:T>C,NM_000092.4:c.816+16A>G,\N,\N,13/47,Unknown significance,\N,intron_variant,2.069,0.0000156519,EXAC_NFE_AF,COL4A4
470266,2:227968696:C>CT,NM_000092.4:c.807dup,NP_000083.3:p.Gly270ArgfsTer160,13/48,\N,Pathogenic,Alport syndrome,frameshift_variant,35,\N,\N,COL4A4
470267,2:227968701:T>C,NM_000092.4:c.803A>G,NP_000083.3:p.Tyr268Cys,13/48,\N,Unknown significance,\N,missense_variant,23.6,0.000122369,EVS_EA_AF,COL4A4
470268,2:227968704:A>G,NM_000092.4:c.800T>C,NP_000083.3:p.Leu267Pro,13/48,\N,Unknown significance,\N,missense_variant,21.9,0.000122459,EVS_EA_AF,COL4A4
470269,2:227968712:G>T,NM_000092.4:c.792C>A,NP_000083.3:p.Asp264Glu,13/48,\N,Likely benign,\N,missense_variant,16.24,0.0000610352,EXAC_SAS_AF,COL4A4
470270,2:227968716:G>C,NM_000092.4:c.788C>G,NP_000083.3:p.Pro263Arg,13/48,\N,Unknown significance,\N,missense_variant,24.5,0.000273823,EVS_AA_AF,COL4A4
470271,2:227968724:T>C,NM_000092.4:c.780A>G,NP_000083.3:p.Val260=,13/48,\N,Unknown significance,\N,synonymous_variant,7.295,0.000595522,EXAC_EAS_AF,COL4A4
470272,2:227968726:C>T,NM_000092.4:c.778G>A,NP_000083.3:p.Val260Ile,13/48,\N,Likely benign,\N,missense_variant,10.61,0.000075792,EXAC_NFE_AF,COL4A4
470273,2:227968733:G>A,NM_000092.4:c.771C>T,NP_000083.3:p.Thr257=,13/48,\N,Unknown significance,\N,synonymous_variant,10.13,0.000368279,EVS_EA_AF,COL4A4
470274,2:227968735:T>G,NM_000092.4:c.769A>C,NP_000083.3:p.Thr257Pro,13/48,\N,Likely benign,\N,missense_variant,18.77,0.0011236,EXAC_OTH_AF,COL4A4
470275,2:227968738:G>A,NM_000092.4:c.766C>T,NP_000083.3:p.Pro256Ser,13/48,\N,Unknown significance,\N,missense_variant,24.7,\N,\N,COL4A4
470276,2:227968749:C>A,NM_000092.4:c.755G>T,NP_000083.3:p.Gly252Val,13/48,\N,Unknown significance,\N,missense_variant,34,0.0000609088,EXAC_SAS_AF,COL4A4
470277,2:227968757:A>G,NM_000092.4:c.747T>C,NP_000083.3:p.Gly249=,13/48,\N,Unknown significance,\N,synonymous_variant,10.08,0.000119446,EXAC_EAS_AF,COL4A4
470278,2:227968761:A>G,NM_000092.4:c.743T>C,NP_000083.3:p.Val248Ala,13/48,\N,Unknown significance,\N,missense_variant,25.2,0.00026178,EXAC_AMR_AF,COL4A4
470279,2:227968763:C>T,NM_000092.4:c.741G>A,NP_000083.3:p.Glu247=,13/48,\N,Unknown significance,\N,synonymous_variant,13.48,0.0000609088,EXAC_SAS_AF,COL4A4
470280,2:227968770:T>A,NM_000092.4:c.736-2A>T,\N,\N,12/47,Unknown significance,\N,splice_acceptor_variant,24.7,0.0000874126,EXAC_AMR_AF,COL4A4
470281,2:227968771:T>TA,NM_000092.4:c.736-4dup,\N,\N,12/47,Benign,\N,splice_region_variant&intron_variant,10.76,0.0206861,EXAC_SAS_AF,COL4A4
470282,2:227968771:TA>T,NM_000092.4:c.736-4del,\N,\N,12/47,Benign,\N,splice_region_variant&intron_variant,10.34,0.0353387,EXAC_SAS_AF,COL4A4
470283,2:227968771:TAA>T,NM_000092.4:c.736-5_736-4del,\N,\N,12/47,Unknown significance,\N,splice_region_variant&intron_variant,10.26,0.000160256,EXAC_EAS_AF,COL4A4
470284,2:227968777:A>G,NM_000092.4:c.736-9T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.148,0.001,1KG_EAS_AF,COL4A4
470285,2:227968778:A>C,NM_000092.4:c.736-10T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.032,0.00210526,EXAC_AFR_AF,COL4A4
470286,2:227968786:G>C,NM_000092.4:c.736-18C>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.226,0.000123153,EVS_EA_AF,COL4A4
470287,2:227968787:A>T,NM_000092.4:c.736-19T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.28,0.001,1KG_SAS_AF,COL4A4
470288,2:227968792:G>A,NM_000092.4:c.736-24C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,4.768,0.000175162,EXAC_AMR_AF,COL4A4
470289,2:227968801:A>G,NM_000092.4:c.736-33T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,10.53,0.002,1KG_SAS_AF,COL4A4
470290,2:227968811:A>G,NM_000092.4:c.736-43T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,9.312,0.0000611696,EXAC_SAS_AF,COL4A4
470291,2:227968813:G>A,NM_000092.4:c.736-45C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,8.677,0.000061177,EXAC_SAS_AF,COL4A4
470292,2:227968830:C>A,NM_000092.4:c.736-62G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,5.848,0.001,1KG_EUR_AF,COL4A4
470293,2:227968836:A>G,NM_000092.4:c.736-68T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,4.056,0.00115207,EXAC_OTH_AF,COL4A4
470294,2:227968836:A>T,NM_000092.4:c.736-68T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.477,0.001,1KG_SAS_AF,COL4A4
470295,2:227968837:T>A,NM_000092.4:c.736-69A>T,\N,\N,12/47,Benign,\N,intron_variant,5.742,0.0908,1KG_AFR_AF,COL4A4
470296,2:227968844:A>G,NM_000092.4:c.736-76T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,3.183,0.0000157154,EXAC_NFE_AF,COL4A4
470297,2:227968850:C>T,NM_000092.4:c.736-82G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,3.45,0.001,1KG_EUR_AF,COL4A4
470298,2:227968857:T>A,NM_000092.4:c.736-89A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,6.636,0.0000615157,EXAC_SAS_AF,COL4A4
470299,2:227968859:C>T,NM_000092.4:c.736-91G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.952,0.0000158821,EXAC_NFE_AF,COL4A4
470300,2:227968861:A>T,NM_000092.4:c.736-93T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.405,0.0000159139,EXAC_NFE_AF,COL4A4
470301,2:227968862:T>C,NM_000092.4:c.736-94A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.296,\N,\N,COL4A4
470302,2:227968866:T>C,NM_000092.4:c.736-98A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,9.709,\N,\N,COL4A4
470303,2:227968868:A>G,NM_000092.4:c.736-100T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,9.892,0.0000618429,EXAC_SAS_AF,COL4A4
470304,2:227968869:T>C,NM_000092.4:c.736-101A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,8.711,0.0000160462,EXAC_NFE_AF,COL4A4
470305,2:227968878:A>C,NM_000092.4:c.736-110T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,7.37,\N,\N,COL4A4
470306,2:227968902:A>G,NM_000092.4:c.736-134T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.76,\N,\N,COL4A4
470307,2:227968907:A>C,NM_000092.4:c.736-139T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.77,0.0000196982,EXAC_NFE_AF,COL4A4
470308,2:227968907:A>T,NM_000092.4:c.736-139T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.246,0.0000196982,EXAC_NFE_AF,COL4A4
470309,2:227968908:T>A,NM_000092.4:c.736-140A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,5.447,0.000069483,EXAC_SAS_AF,COL4A4
470310,2:227968910:T>A,NM_000092.4:c.736-142A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,5.114,0.0000197153,EXAC_NFE_AF,COL4A4
470311,2:227968915:G>A,NM_000092.4:c.736-147C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.884,\N,\N,COL4A4
470312,2:227968917:A>T,NM_000092.4:c.736-149T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.015,0.000571429,EVS_AA_AF,COL4A4
470313,2:227968955:G>A,NM_000092.4:c.736-187C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,7.61,\N,\N,COL4A4
470314,2:227968970:A>T,NM_000092.4:c.736-202T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,6.721,0.0008,1KG_AFR_AF,COL4A4
470315,2:227969003:AG>A,NM_000092.4:c.736-236del,\N,\N,12/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470316,2:227969009:A>G,NM_000092.4:c.736-241T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.742,\N,\N,COL4A4
470317,2:227969015:G>A,NM_000092.4:c.736-247C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.309,\N,\N,COL4A4
470318,2:227969025:G>A,NM_000092.4:c.736-257C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.781,0.001,1KG_SAS_AF,COL4A4
470319,2:227969025:G>T,NM_000092.4:c.736-257C>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.105,\N,\N,COL4A4
470320,2:227969089:A>G,NM_000092.4:c.736-321T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.854,\N,\N,COL4A4
470321,2:227969113:C>T,NM_000092.4:c.736-345G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.385,\N,\N,COL4A4
470322,2:227969130:C>CAA,NM_000092.4:c.736-364_736-363dup,\N,\N,12/47,Unknown significance,\N,intron_variant,3.267,\N,\N,COL4A4
470323,2:227969130:C>CAAA,NM_000092.4:c.736-365_736-363dup,\N,\N,12/47,Unknown significance,\N,intron_variant,3.1,\N,\N,COL4A4
470324,2:227969130:CA>C,NM_000092.4:c.736-363del,\N,\N,12/47,Unknown significance,\N,intron_variant,7.028,\N,\N,COL4A4
470325,2:227969154:C>T,NM_000092.4:c.736-386G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.16,\N,\N,COL4A4
470326,2:227969265:T>A,NM_000092.4:c.736-497A>T,\N,\N,12/47,Benign,\N,intron_variant,5.206,0.006,1KG_EAS_AF,COL4A4
470327,2:227969285:G>A,NM_000092.4:c.736-517C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.05,0.0045,1KG_AFR_AF,COL4A4
470328,2:227969297:CAATAAATA>C,NM_000092.4:c.736-537_736-530del,\N,\N,12/47,Benign,\N,intron_variant,7.06,0.6889,1KG_EUR_AF,COL4A4
470329,2:227969297:CAATAAATAA>C,NM_000092.4:c.736-538_736-530del,\N,\N,12/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470330,2:227969332:C>G,NM_000092.4:c.736-564G>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.063,0.002,1KG_EUR_AF,COL4A4
470331,2:227969354:C>CT,NM_000092.4:c.736-587dup,\N,\N,12/47,Unknown significance,\N,intron_variant,1.69,\N,\N,COL4A4
470332,2:227969354:C>CTT,NM_000092.4:c.736-588_736-587dup,\N,\N,12/47,Unknown significance,\N,intron_variant,1.575,\N,\N,COL4A4
470333,2:227969383:T>C,NM_000092.4:c.736-615A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.485,0.001,1KG_EAS_AF,COL4A4
470334,2:227969417:C>T,NM_000092.4:c.736-649G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.725,0.0038,1KG_AFR_AF,COL4A4
470335,2:227969422:T>C,NM_000092.4:c.736-654A>G,\N,\N,12/47,Benign,\N,intron_variant,0.845,0.6879,1KG_EUR_AF,COL4A4
470336,2:227969433:A>G,NM_000092.4:c.736-665T>C,\N,\N,12/47,Benign,\N,intron_variant,0.802,0.0113,1KG_AFR_AF,COL4A4
470337,2:227969435:C>A,NM_000092.4:c.736-667G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.231,0.001,1KG_SAS_AF,COL4A4
470338,2:227969481:A>T,NM_000092.4:c.736-713T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.312,0.0008,1KG_AFR_AF,COL4A4
470339,2:227969482:G>A,NM_000092.4:c.736-714C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.825,0.0008,1KG_AFR_AF,COL4A4
470340,2:227969503:T>C,NM_000092.4:c.736-735A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.44,0.0014,1KG_AMR_AF,COL4A4
470341,2:227969513:T>C,NM_000092.4:c.736-745A>G,\N,\N,12/47,Benign,\N,intron_variant,0.827,0.6541,1KG_EUR_AF,COL4A4
470342,2:227969526:T>C,NM_000092.4:c.736-758A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.467,\N,\N,COL4A4
470343,2:227969545:G>A,NM_000092.4:c.736-777C>T,\N,\N,12/47,Benign,\N,intron_variant,0.971,0.059,1KG_AFR_AF,COL4A4
470344,2:227969560:T>G,NM_000092.4:c.736-792A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.628,\N,\N,COL4A4
470345,2:227969577:G>A,NM_000092.4:c.736-809C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.747,0.0014,1KG_AMR_AF,COL4A4
470346,2:227969583:C>T,NM_000092.4:c.736-815G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.286,0.0029,1KG_AMR_AF,COL4A4
470347,2:227969603:C>T,NM_000092.4:c.736-835G>A,\N,\N,12/47,Benign,\N,intron_variant,1.154,0.6531,1KG_EUR_AF,COL4A4
470348,2:227969609:G>A,NM_000092.4:c.736-841C>T,\N,\N,12/47,Benign,\N,intron_variant,0.852,0.0051,1KG_SAS_AF,COL4A4
470349,2:227969637:G>A,NM_000092.4:c.736-869C>T,\N,\N,12/47,Benign,\N,intron_variant,0.675,0.6531,1KG_EUR_AF,COL4A4
470350,2:227969648:C>CA,NM_000092.4:c.736-881dup,\N,\N,12/47,Benign,\N,intron_variant,1.313,0.6531,1KG_EUR_AF,COL4A4
470351,2:227969653:G>A,NM_000092.4:c.736-885C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.874,0.004,1KG_EAS_AF,COL4A4
470352,2:227969680:T>C,NM_000092.4:c.736-912A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.258,0.002,1KG_EUR_AF,COL4A4
470353,2:227969714:T>C,NM_000092.4:c.736-946A>G,\N,\N,12/47,Benign,\N,intron_variant,0.829,0.0051,1KG_SAS_AF,COL4A4
470354,2:227969768:C>T,NM_000092.4:c.736-1000G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.416,0.001,1KG_EUR_AF,COL4A4
470355,2:227969769:A>C,NM_000092.4:c.736-1001T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.353,\N,\N,COL4A4
470356,2:227969777:A>G,NM_000092.4:c.736-1009T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,11.45,0.0015,1KG_AFR_AF,COL4A4
470357,2:227969797:A>T,NM_000092.4:c.736-1029T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.148,\N,\N,COL4A4
470358,2:227969817:T>A,NM_000092.4:c.736-1049A>T,\N,\N,12/47,Benign,\N,intron_variant,4.895,0.6541,1KG_EUR_AF,COL4A4
470359,2:227969831:A>T,NM_000092.4:c.736-1063T>A,\N,\N,12/47,Benign,\N,intron_variant,0.727,0.6541,1KG_EUR_AF,COL4A4
470360,2:227969904:A>AT,NM_000092.4:c.736-1137dup,\N,\N,12/47,Unknown significance,\N,intron_variant,1.067,\N,\N,COL4A4
470361,2:227969948:T>A,NM_000092.4:c.736-1180A>T,\N,\N,12/47,Benign,\N,intron_variant,5.006,0.6541,1KG_EUR_AF,COL4A4
470362,2:227969967:C>T,NM_000092.4:c.736-1199G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.521,0.001,1KG_EAS_AF,COL4A4
470363,2:227969994:C>T,NM_000092.4:c.736-1226G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,4,\N,\N,COL4A4
470364,2:227969999:C>T,NM_000092.4:c.736-1231G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.513,0.001,1KG_SAS_AF,COL4A4
470365,2:227970000:G>A,NM_000092.4:c.736-1232C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.561,0.001,1KG_SAS_AF,COL4A4
470366,2:227970011:A>C,NM_000092.4:c.736-1243T>G,\N,\N,12/47,Benign,\N,intron_variant,1.983,0.6541,1KG_EUR_AF,COL4A4
470367,2:227970023:C>T,NM_000092.4:c.736-1255G>A,\N,\N,12/47,Benign,\N,intron_variant,4.351,0.0862,1KG_AFR_AF,COL4A4
470368,2:227970034:G>A,NM_000092.4:c.736-1266C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.081,0.0008,1KG_AFR_AF,COL4A4
470369,2:227970050:A>T,NM_000092.4:c.736-1282T>A,\N,\N,12/47,Benign,\N,intron_variant,0.188,0.0083,1KG_AFR_AF,COL4A4
470370,2:227970063:G>A,NM_000092.4:c.736-1295C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.162,\N,\N,COL4A4
470371,2:227970104:C>T,NM_000092.4:c.736-1336G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.65,0.0023,1KG_AFR_AF,COL4A4
470372,2:227970105:G>A,NM_000092.4:c.736-1337C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.069,0.0023,1KG_AFR_AF,COL4A4
470373,2:227970105:G>T,NM_000092.4:c.736-1337C>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.026,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
470374,2:227970146:A>T,NM_000092.4:c.736-1378T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.311,\N,\N,COL4A4
470375,2:227970193:A>G,NM_000092.4:c.736-1425T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.521,0.0015,1KG_AFR_AF,COL4A4
470376,2:227970206:A>G,NM_000092.4:c.736-1438T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.668,0.0014,1KG_AMR_AF,COL4A4
470377,2:227970220:T>A,NM_000092.4:c.736-1452A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.299,0.0008,1KG_AFR_AF,COL4A4
470378,2:227970250:CAAT>C,NM_000092.4:c.736-1485_736-1483del,\N,\N,12/47,Benign,\N,intron_variant,7.102,0.0072,1KG_SAS_AF,COL4A4
470379,2:227970267:T>C,NM_000092.4:c.736-1499A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.199,\N,\N,COL4A4
470380,2:227970267:T>G,NM_000092.4:c.736-1499A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.311,\N,\N,COL4A4
470381,2:227970268:G>A,NM_000092.4:c.736-1500C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.736,0.0008,1KG_AFR_AF,COL4A4
470382,2:227970285:A>C,NM_000092.4:c.736-1517T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.02,\N,\N,COL4A4
470383,2:227970303:A>C,NM_000092.4:c.736-1535T>G,\N,\N,12/47,Benign,\N,intron_variant,2.168,0.005,1KG_EUR_AF,COL4A4
470384,2:227970343:G>A,NM_000092.4:c.736-1575C>T,\N,\N,12/47,Benign,\N,intron_variant,3.103,0.0053,1KG_AFR_AF,COL4A4
470385,2:227970370:CCATT>C,NM_000092.4:c.736-1606_736-1603del,\N,\N,12/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470386,2:227970371:C>T,NM_000092.4:c.736-1603G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,6.659,0.0045,1KG_AFR_AF,COL4A4
470387,2:227970422:T>C,NM_000092.4:c.736-1654A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,7.35,\N,\N,COL4A4
470388,2:227970425:A>G,NM_000092.4:c.736-1657T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.902,\N,\N,COL4A4
470389,2:227970446:T>G,NM_000092.4:c.736-1678A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,7.671,0.0014,1KG_AMR_AF,COL4A4
470390,2:227970458:G>A,NM_000092.4:c.736-1690C>T,\N,\N,12/47,Benign,\N,intron_variant,13.45,0.6541,1KG_EUR_AF,COL4A4
470391,2:227970499:C>A,NM_000092.4:c.736-1731G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,8.524,\N,\N,COL4A4
470392,2:227970503:A>G,NM_000092.4:c.736-1735T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.464,0.0008,1KG_AFR_AF,COL4A4
470393,2:227970520:G>A,NM_000092.4:c.736-1752C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.538,0.0029,1KG_AMR_AF,COL4A4
470394,2:227970521:G>A,NM_000092.4:c.736-1753C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.933,0.0031,1KG_SAS_AF,COL4A4
470395,2:227970562:T>G,NM_000092.4:c.736-1794A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.825,0.0008,1KG_AFR_AF,COL4A4
470396,2:227970573:C>T,NM_000092.4:c.736-1805G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.019,0.0041,1KG_SAS_AF,COL4A4
470397,2:227970590:T>A,NM_000092.4:c.736-1822A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,11.19,0.002,1KG_SAS_AF,COL4A4
470398,2:227970601:T>C,NM_000092.4:c.736-1833A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.364,0.0014,1KG_AMR_AF,COL4A4
470399,2:227970606:A>T,NM_000092.4:c.736-1838T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,3.443,0.0015,1KG_AFR_AF,COL4A4
470400,2:227970622:A>C,NM_000092.4:c.736-1854T>G,\N,\N,12/47,Benign,\N,intron_variant,0.223,0.0098,1KG_AFR_AF,COL4A4
470401,2:227970633:A>G,NM_000092.4:c.736-1865T>C,\N,\N,12/47,Benign,\N,intron_variant,1.006,0.007,1KG_EUR_AF,COL4A4
470402,2:227970667:A>G,NM_000092.4:c.736-1899T>C,\N,\N,12/47,Benign,\N,intron_variant,1.379,0.6541,1KG_EUR_AF,COL4A4
470403,2:227970694:A>G,NM_000092.4:c.736-1926T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.82,0.0008,1KG_AFR_AF,COL4A4
470404,2:227970715:T>C,NM_000092.4:c.736-1947A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.374,0.0008,1KG_AFR_AF,COL4A4
470405,2:227970722:T>G,NM_000092.4:c.736-1954A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,3.363,0.0008,1KG_AFR_AF,COL4A4
470406,2:227970763:G>A,NM_000092.4:c.736-1995C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.487,\N,\N,COL4A4
470407,2:227970763:G>GA,NM_000092.4:c.736-1996dup,\N,\N,12/47,Benign,\N,intron_variant,0.832,0.6641,1KG_AFR_AF,COL4A4
470408,2:227970775:A>G,NM_000092.4:c.736-2007T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,6.678,\N,\N,COL4A4
470409,2:227970776:G>A,NM_000092.4:c.736-2008C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,7.69,\N,\N,COL4A4
470410,2:227970801:G>A,NM_000092.4:c.736-2033C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.225,0.001,1KG_SAS_AF,COL4A4
470411,2:227970839:T>TTG,NM_000092.4:c.736-2073_736-2072dup,\N,\N,12/47,Benign,\N,intron_variant,\N,0.5656,1KG_EUR_AF,COL4A4
470412,2:227970840:T>TG,NM_000092.4:c.736-2073dup,\N,\N,12/47,Unknown significance,\N,intron_variant,0.222,\N,\N,COL4A4
470413,2:227970841:G>GT,NM_000092.4:c.736-2074dup,\N,\N,12/47,Unknown significance,\N,intron_variant,0.065,\N,\N,COL4A4
470414,2:227970850:T>C,NM_000092.4:c.736-2082A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.463,0.0008,1KG_AFR_AF,COL4A4
470415,2:227970851:C>T,NM_000092.4:c.736-2083G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.071,\N,\N,COL4A4
470416,2:227970869:C>T,NM_000092.4:c.736-2101G>A,\N,\N,12/47,Benign,\N,intron_variant,1.731,0.0227,1KG_AFR_AF,COL4A4
470417,2:227970881:T>C,NM_000092.4:c.736-2113A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.247,0.001,1KG_SAS_AF,COL4A4
470418,2:227970886:G>A,NM_000092.4:c.736-2118C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,2.148,\N,\N,COL4A4
470419,2:227970895:G>T,NM_000092.4:c.736-2127C>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.588,\N,\N,COL4A4
470420,2:227970904:A>T,NM_000092.4:c.736-2136T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.353,\N,\N,COL4A4
470421,2:227970914:T>C,NM_000092.4:c.736-2146A>G,\N,\N,12/47,Benign,\N,intron_variant,0.088,0.6541,1KG_EUR_AF,COL4A4
470422,2:227970927:T>C,NM_000092.4:c.736-2159A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,4.187,\N,\N,COL4A4
470423,2:227970932:C>A,NM_000092.4:c.736-2164G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.718,\N,\N,COL4A4
470424,2:227970938:C>T,NM_000092.4:c.736-2170G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.888,\N,\N,COL4A4
470425,2:227970950:A>G,NM_000092.4:c.736-2182T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.478,0.002,1KG_EUR_AF,COL4A4
470426,2:227971046:C>T,NM_000092.4:c.735+2251G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.757,\N,\N,COL4A4
470427,2:227971047:G>A,NM_000092.4:c.735+2250C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.301,\N,\N,COL4A4
470428,2:227971071:C>G,NM_000092.4:c.735+2226G>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.612,0.0008,1KG_AFR_AF,COL4A4
470429,2:227971110:G>A,NM_000092.4:c.735+2187C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,2.313,0.002,1KG_EUR_AF,COL4A4
470430,2:227971133:G>A,NM_000092.4:c.735+2164C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,7.441,0.0008,1KG_AFR_AF,COL4A4
470431,2:227971142:G>A,NM_000092.4:c.735+2155C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,7.233,\N,\N,COL4A4
470432,2:227971176:C>A,NM_000092.4:c.735+2121G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,4.744,0.0043,1KG_AMR_AF,COL4A4
470433,2:227971230:C>A,NM_000092.4:c.735+2067G>T,\N,\N,12/47,Benign,\N,intron_variant,5.315,0.0068,1KG_AFR_AF,COL4A4
470434,2:227971251:G>C,NM_000092.4:c.735+2046C>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.271,\N,\N,COL4A4
470435,2:227971270:T>TTTATC,NM_000092.4:c.735+2022_735+2026dup,\N,\N,12/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470436,2:227971270:TTTATC>T,NM_000092.4:c.735+2022_735+2026del,\N,\N,12/47,Benign,\N,intron_variant,3.66,0.673,1KG_EUR_AF,COL4A4
470437,2:227971275:C>T,NM_000092.4:c.735+2022G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.495,\N,\N,COL4A4
470438,2:227971275:CTTATT>C,NM_000092.4:c.735+2017_735+2021del,\N,\N,12/47,Unknown significance,\N,intron_variant,3.968,\N,\N,COL4A4
470439,2:227971290:T>C,NM_000092.4:c.735+2007A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.642,0.003,1KG_AFR_AF,COL4A4
470440,2:227971304:C>T,NM_000092.4:c.735+1993G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.11,0.0023,1KG_AFR_AF,COL4A4
470441,2:227971305:G>A,NM_000092.4:c.735+1992C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.481,0.0008,1KG_AFR_AF,COL4A4
470442,2:227971319:T>C,NM_000092.4:c.735+1978A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,2.225,\N,\N,COL4A4
470443,2:227971328:C>G,NM_000092.4:c.735+1969G>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.692,0.001,1KG_EAS_AF,COL4A4
470444,2:227971364:T>C,NM_000092.4:c.735+1933A>G,\N,\N,12/47,Benign,\N,intron_variant,0.232,0.0946,1KG_AFR_AF,COL4A4
470445,2:227971429:A>G,NM_000092.4:c.735+1868T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,0.556,0.001,1KG_EUR_AF,COL4A4
470446,2:227971430:C>T,NM_000092.4:c.735+1867G>A,\N,\N,12/47,Benign,\N,intron_variant,0.042,0.0386,1KG_AFR_AF,COL4A4
470447,2:227971433:C>T,NM_000092.4:c.735+1864G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.831,\N,\N,COL4A4
470448,2:227971442:C>T,NM_000092.4:c.735+1855G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.311,\N,\N,COL4A4
470449,2:227971443:G>A,NM_000092.4:c.735+1854C>T,\N,\N,12/47,Benign,\N,intron_variant,0.036,0.0562,1KG_SAS_AF,COL4A4
470450,2:227971448:A>C,NM_000092.4:c.735+1849T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.05,0.0015,1KG_AFR_AF,COL4A4
470451,2:227971471:G>A,NM_000092.4:c.735+1826C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.085,\N,\N,COL4A4
470452,2:227971478:C>T,NM_000092.4:c.735+1819G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.734,\N,\N,COL4A4
470453,2:227971481:C>T,NM_000092.4:c.735+1816G>A,\N,\N,12/47,Benign,\N,intron_variant,2.552,0.3313,1KG_AFR_AF,COL4A4
470454,2:227971501:C>T,NM_000092.4:c.735+1796G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.268,\N,\N,COL4A4
470455,2:227971513:C>A,NM_000092.4:c.735+1784G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,2.593,\N,\N,COL4A4
470456,2:227971515:G>C,NM_000092.4:c.735+1782C>G,\N,\N,12/47,Benign,\N,intron_variant,0.324,0.6541,1KG_EUR_AF,COL4A4
470457,2:227971516:A>G,NM_000092.4:c.735+1781T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.848,0.0008,1KG_AFR_AF,COL4A4
470458,2:227971530:C>G,NM_000092.4:c.735+1767G>C,\N,\N,12/47,Benign,\N,intron_variant,1.414,0.0575,1KG_AFR_AF,COL4A4
470459,2:227971547:A>G,NM_000092.4:c.735+1750T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.352,\N,\N,COL4A4
470460,2:227971561:C>T,NM_000092.4:c.735+1736G>A,\N,\N,12/47,Benign,\N,intron_variant,0.672,0.1271,1KG_AFR_AF,COL4A4
470461,2:227971652:T>C,NM_000092.4:c.735+1645A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.051,\N,\N,COL4A4
470462,2:227971695:C>T,NM_000092.4:c.735+1602G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.55,0.002,1KG_EUR_AF,COL4A4
470463,2:227971703:G>A,NM_000092.4:c.735+1594C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,5.444,0.0014,1KG_AMR_AF,COL4A4
470464,2:227971721:T>C,NM_000092.4:c.735+1576A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.736,0.001,1KG_EAS_AF,COL4A4
470465,2:227971733:G>A,NM_000092.4:c.735+1564C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.65,0.001,1KG_EUR_AF,COL4A4
470466,2:227971753:A>G,NM_000092.4:c.735+1544T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,4.993,0.0023,1KG_AFR_AF,COL4A4
470467,2:227971784:C>T,NM_000092.4:c.735+1513G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.457,0.001,1KG_EAS_AF,COL4A4
470468,2:227971800:G>A,NM_000092.4:c.735+1497C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,5.474,\N,\N,COL4A4
470469,2:227971805:T>C,NM_000092.4:c.735+1492A>G,\N,\N,12/47,Benign,\N,intron_variant,3.594,0.031,1KG_AFR_AF,COL4A4
470470,2:227971876:C>T,NM_000092.4:c.735+1421G>A,\N,\N,12/47,Benign,\N,intron_variant,7.342,0.2927,1KG_EAS_AF,COL4A4
470471,2:227971908:A>T,NM_000092.4:c.735+1389T>A,\N,\N,12/47,Benign,\N,intron_variant,0.455,0.0308,1KG_EAS_AF,COL4A4
470472,2:227971914:G>A,NM_000092.4:c.735+1383C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.067,\N,\N,COL4A4
470473,2:227971918:G>C,NM_000092.4:c.735+1379C>G,\N,\N,12/47,Benign,\N,intron_variant,0.944,0.0295,1KG_AFR_AF,COL4A4
470474,2:227971969:T>C,NM_000092.4:c.735+1328A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.804,\N,\N,COL4A4
470475,2:227971976:A>G,NM_000092.4:c.735+1321T>C,\N,\N,12/47,Benign,\N,intron_variant,3.02,0.0169,1KG_EUR_AF,COL4A4
470476,2:227971981:A>G,NM_000092.4:c.735+1316T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,5.153,0.0015,1KG_AFR_AF,COL4A4
470477,2:227971986:C>T,NM_000092.4:c.735+1311G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,3.139,0.002,1KG_EUR_AF,COL4A4
470478,2:227971987:G>A,NM_000092.4:c.735+1310C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,8.755,0.0014,1KG_AMR_AF,COL4A4
470479,2:227971997:T>C,NM_000092.4:c.735+1300A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,11.56,0.0008,1KG_AFR_AF,COL4A4
470480,2:227971998:G>C,NM_000092.4:c.735+1299C>G,\N,\N,12/47,Benign,\N,intron_variant,11.42,0.006,1KG_EAS_AF,COL4A4
470481,2:227972007:T>C,NM_000092.4:c.735+1290A>G,\N,\N,12/47,Benign,\N,intron_variant,10.92,0.0182,1KG_AFR_AF,COL4A4
470482,2:227972064:A>G,NM_000092.4:c.735+1233T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.465,0.0014,1KG_AMR_AF,COL4A4
470483,2:227972099:C>A,NM_000092.4:c.735+1198G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,9.441,0.001,1KG_EUR_AF,COL4A4
470484,2:227972099:CCT>C,NM_000092.4:c.735+1196_735+1197del,\N,\N,12/47,Unknown significance,\N,intron_variant,8.976,0.003,1KG_AFR_AF,COL4A4
470485,2:227972113:T>G,NM_000092.4:c.735+1184A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,9.913,\N,\N,COL4A4
470486,2:227972130:T>C,NM_000092.4:c.735+1167A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,2.748,\N,\N,COL4A4
470487,2:227972159:T>C,NM_000092.4:c.735+1138A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,4.107,0.001,1KG_SAS_AF,COL4A4
470488,2:227972194:A>T,NM_000092.4:c.735+1103T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.646,\N,\N,COL4A4
470489,2:227972208:C>T,NM_000092.4:c.735+1089G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,6.643,\N,\N,COL4A4
470490,2:227972223:T>C,NM_000092.4:c.735+1074A>G,\N,\N,12/47,Benign,\N,intron_variant,1.141,0.6521,1KG_EUR_AF,COL4A4
470491,2:227972231:A>G,NM_000092.4:c.735+1066T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,0.973,0.001,1KG_EUR_AF,COL4A4
470492,2:227972241:C>T,NM_000092.4:c.735+1056G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,4.599,\N,\N,COL4A4
470493,2:227972243:C>A,NM_000092.4:c.735+1054G>T,\N,\N,12/47,Benign,\N,intron_variant,6.437,0.0367,1KG_EAS_AF,COL4A4
470494,2:227972251:G>A,NM_000092.4:c.735+1046C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.49,0.003,1KG_EAS_AF,COL4A4
470495,2:227972262:T>A,NM_000092.4:c.735+1035A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,8.047,0.0008,1KG_AFR_AF,COL4A4
470496,2:227972272:A>G,NM_000092.4:c.735+1025T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,4.104,\N,\N,COL4A4
470497,2:227972288:C>T,NM_000092.4:c.735+1009G>A,\N,\N,12/47,Benign,\N,intron_variant,0.572,0.5227,1KG_AFR_AF,COL4A4
470498,2:227972333:C>T,NM_000092.4:c.735+964G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,6.928,0.0043,1KG_AMR_AF,COL4A4
470499,2:227972349:A>T,NM_000092.4:c.735+948T>A,\N,\N,12/47,Unknown significance,\N,intron_variant,4.899,\N,\N,COL4A4
470500,2:227972368:G>A,NM_000092.4:c.735+929C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,4.087,0.001,1KG_SAS_AF,COL4A4
470501,2:227972448:G>A,NM_000092.4:c.735+849C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,2.227,0.003,1KG_EUR_AF,COL4A4
470502,2:227972451:T>C,NM_000092.4:c.735+846A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.999,0.001,1KG_EUR_AF,COL4A4
470503,2:227972471:TC>T,NM_000092.4:c.735+825del,\N,\N,12/47,Unknown significance,\N,intron_variant,2.147,\N,\N,COL4A4
470504,2:227972472:CTT>C,NM_000092.4:c.735+823_735+824del,\N,\N,12/47,Unknown significance,\N,intron_variant,3.642,\N,\N,COL4A4
470505,2:227972506:G>A,NM_000092.4:c.735+791C>T,\N,\N,12/47,Benign,\N,intron_variant,0.147,0.6511,1KG_EUR_AF,COL4A4
470506,2:227972527:G>A,NM_000092.4:c.735+770C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.121,\N,\N,COL4A4
470507,2:227972535:A>G,NM_000092.4:c.735+762T>C,\N,\N,12/47,Benign,\N,intron_variant,1.539,0.6561,1KG_EUR_AF,COL4A4
470508,2:227972542:T>C,NM_000092.4:c.735+755A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.16,0.001,1KG_EAS_AF,COL4A4
470509,2:227972555:G>C,NM_000092.4:c.735+742C>G,\N,\N,12/47,Benign,\N,intron_variant,0.138,0.9841,1KG_AFR_AF,COL4A4
470510,2:227972560:A>G,NM_000092.4:c.735+737T>C,\N,\N,12/47,Benign,\N,intron_variant,3.219,0.7186,1KG_AFR_AF,COL4A4
470511,2:227972598:C>T,NM_000092.4:c.735+699G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.062,0.001,1KG_EAS_AF,COL4A4
470512,2:227972604:C>G,NM_000092.4:c.735+693G>C,\N,\N,12/47,Benign,\N,intron_variant,0.798,0.0072,1KG_AMR_AF,COL4A4
470513,2:227972619:A>G,NM_000092.4:c.735+678T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.811,0.001,1KG_SAS_AF,COL4A4
470514,2:227972620:C>T,NM_000092.4:c.735+677G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.167,0.0015,1KG_AFR_AF,COL4A4
470515,2:227972621:G>C,NM_000092.4:c.735+676C>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.024,0.001,1KG_SAS_AF,COL4A4
470516,2:227972627:C>T,NM_000092.4:c.735+670G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.784,\N,\N,COL4A4
470517,2:227972630:C>T,NM_000092.4:c.735+667G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.188,\N,\N,COL4A4
470518,2:227972631:G>A,NM_000092.4:c.735+666C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,1.415,0.001,1KG_EUR_AF,COL4A4
470519,2:227972635:A>G,NM_000092.4:c.735+662T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.573,\N,\N,COL4A4
470520,2:227972649:T>G,NM_000092.4:c.735+648A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,1.179,\N,\N,COL4A4
470521,2:227972666:G>A,NM_000092.4:c.735+631C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.17,0.0008,1KG_AFR_AF,COL4A4
470522,2:227972687:T>C,NM_000092.4:c.735+610A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,5.164,\N,\N,COL4A4
470523,2:227972708:A>G,NM_000092.4:c.735+589T>C,\N,\N,12/47,Benign,\N,intron_variant,0.388,0.7602,1KG_AFR_AF,COL4A4
470524,2:227972714:C>T,NM_000092.4:c.735+583G>A,\N,\N,12/47,Benign,\N,intron_variant,2.138,0.0159,1KG_EAS_AF,COL4A4
470525,2:227972742:A>G,NM_000092.4:c.735+555T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.255,0.001,1KG_SAS_AF,COL4A4
470526,2:227972754:C>T,NM_000092.4:c.735+543G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.057,0.001,1KG_SAS_AF,COL4A4
470527,2:227972759:A>C,NM_000092.4:c.735+538T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.716,0.002,1KG_SAS_AF,COL4A4
470528,2:227972817:C>T,NM_000092.4:c.735+480G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.67,\N,\N,COL4A4
470529,2:227972847:G>T,NM_000092.4:c.735+450C>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.732,0.002,1KG_EUR_AF,COL4A4
470530,2:227972852:A>G,NM_000092.4:c.735+445T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,0.15,\N,\N,COL4A4
470531,2:227972858:C>T,NM_000092.4:c.735+439G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,1.727,0.001,1KG_EAS_AF,COL4A4
470532,2:227972859:G>A,NM_000092.4:c.735+438C>T,\N,\N,12/47,Benign,\N,intron_variant,0.648,0.3224,1KG_EAS_AF,COL4A4
470533,2:227972895:T>C,NM_000092.4:c.735+402A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.874,\N,\N,COL4A4
470534,2:227972944:T>C,NM_000092.4:c.735+353A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.252,\N,\N,COL4A4
470535,2:227973039:T>G,NM_000092.4:c.735+258A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,4.431,0.001,1KG_EUR_AF,COL4A4
470536,2:227973091:C>T,NM_000092.4:c.735+206G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,0.513,\N,\N,COL4A4
470537,2:227973095:A>C,NM_000092.4:c.735+202T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.605,0.0045,1KG_AFR_AF,COL4A4
470538,2:227973095:A>T,NM_000092.4:c.735+202T>A,\N,\N,12/47,Benign,\N,intron_variant,1.402,0.9713,1KG_AFR_AF,COL4A4
470539,2:227973100:T>G,NM_000092.4:c.735+197A>C,\N,\N,12/47,Unknown significance,\N,intron_variant,6.388,\N,\N,COL4A4
470540,2:227973113:C>T,NM_000092.4:c.735+184G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,14.49,0.001,1KG_SAS_AF,COL4A4
470541,2:227973193:G>A,NM_000092.4:c.735+104C>T,\N,\N,12/47,Benign,\N,intron_variant,6.457,0.3204,1KG_EAS_AF,COL4A4
470542,2:227973198:T>A,NM_000092.4:c.735+99A>T,\N,\N,12/47,Unknown significance,\N,intron_variant,9.7,0.0008,1KG_AFR_AF,COL4A4
470543,2:227973205:T>C,NM_000092.4:c.735+92A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,7.459,\N,\N,COL4A4
470544,2:227973208:G>C,NM_000092.4:c.735+89C>G,\N,\N,12/47,Unknown significance,\N,intron_variant,2.383,0.0008,1KG_AFR_AF,COL4A4
470545,2:227973221:T>C,NM_000092.4:c.735+76A>G,\N,\N,12/47,Unknown significance,\N,intron_variant,1.315,0.0031,1KG_SAS_AF,COL4A4
470546,2:227973229:A>G,NM_000092.4:c.735+68T>C,\N,\N,12/47,Unknown significance,\N,intron_variant,6.953,0.0023,1KG_AFR_AF,COL4A4
470547,2:227973247:C>T,NM_000092.4:c.735+50G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.813,0.000246184,EVS_AA_AF,COL4A4
470548,2:227973249:G>GCA,NM_000092.4:c.735+46_735+47dup,\N,\N,12/47,Unknown significance,\N,intron_variant,\N,0.0000149894,EXAC_NFE_AF,COL4A4
470549,2:227973249:GCA>G,NM_000092.4:c.735+46_735+47del,\N,\N,12/47,Unknown significance,\N,intron_variant,5.854,0.0000605767,EXAC_SAS_AF,COL4A4
470550,2:227973252:C>A,NM_000092.4:c.735+45G>T,\N,\N,12/47,Unknown significance,\N,intron_variant,3.715,0.000059952,EXAC_NFE_AF,COL4A4
470551,2:227973256:C>G,NM_000092.4:c.735+41G>C,\N,\N,12/47,Unknown significance,\N,intron_variant,2.331,0.000014988,EXAC_NFE_AF,COL4A4
470552,2:227973258:C>T,NM_000092.4:c.735+39G>A,\N,\N,12/47,Unknown significance,\N,intron_variant,3.73,0.002,1KG_SAS_AF,COL4A4
470553,2:227973259:G>A,NM_000092.4:c.735+38C>T,\N,\N,12/47,Unknown significance,\N,intron_variant,0.836,0.00278293,EXAC_EAS_AF,COL4A4
470554,2:227973259:G>C,NM_000092.4:c.735+38C>G,\N,\N,12/47,Unknown significance,\N,intron_variant,0.07,0.000115955,EXAC_EAS_AF,COL4A4
470555,2:227973269:G>T,NM_000092.4:c.735+28C>A,\N,\N,12/47,Unknown significance,\N,intron_variant,2.856,0.0000605767,EXAC_SAS_AF,COL4A4
470556,2:227973282:A>C,NM_000092.4:c.735+15T>G,\N,\N,12/47,Unknown significance,\N,intron_variant,3.693,0.0000864304,EXAC_AMR_AF,COL4A4
470557,2:227973298:G>A,NM_000092.4:c.734C>T,NP_000083.3:p.Pro245Leu,12/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,24,0.0000149867,EXAC_NFE_AF,COL4A4
470558,2:227973303:T>A,NM_000092.4:c.729A>T,NP_000083.3:p.Gly243=,12/48,\N,Unknown significance,\N,synonymous_variant,9.161,0.000060562,EXAC_SAS_AF,COL4A4
470559,2:227973309:T>G,NM_000092.4:c.723A>C,NP_000083.3:p.Gln241His,12/48,\N,Likely benign,\N,missense_variant,20.4,0.000121566,EVS_EA_AF,COL4A4
470560,2:227973311:G>T,NM_000092.4:c.721C>A,NP_000083.3:p.Gln241Lys,12/48,\N,Unknown significance,\N,missense_variant,23.4,0.000528541,EVS_AA_AF,COL4A4
470561,2:227973319:A>G,NM_000092.4:c.713T>C,NP_000083.3:p.Val238Ala,12/48,\N,Unknown significance,\N,missense_variant,21.7,0.000151194,EXAC_FIN_AF,COL4A4
470562,2:227973326:C>T,NM_000092.4:c.706G>A,NP_000083.3:p.Val236Met,12/48,\N,Likely benign,\N,missense_variant,24.1,0.000116009,EXAC_EAS_AF,COL4A4
470563,2:227973329:C>T,NM_000092.4:c.703G>A,NP_000083.3:p.Gly235Ser,12/48,\N,Unknown significance,\N,missense_variant,34,0.000232019,EXAC_EAS_AF,COL4A4
470564,2:227973340:T>A,NM_000092.4:c.694-2A>T,\N,\N,11/47,Pathogenic,Alport syndrome,splice_acceptor_variant,24.8,\N,\N,COL4A4
470565,2:227973358:G>C,NM_000092.4:c.694-20C>G,\N,\N,11/47,Unknown significance,\N,intron_variant,2.003,0.0000150024,EXAC_NFE_AF,COL4A4
470566,2:227973362:C>G,NM_000092.4:c.694-24G>C,\N,\N,11/47,Unknown significance,\N,intron_variant,7.104,0.000123001,EVS_EA_AF,COL4A4
470567,2:227973366:T>C,NM_000092.4:c.694-28A>G,\N,\N,11/47,Unknown significance,\N,intron_variant,3.731,0.0000300282,EXAC_NFE_AF,COL4A4
470568,2:227973367:T>C,NM_000092.4:c.694-29A>G,\N,\N,11/47,Unknown significance,\N,intron_variant,5.813,0.0000300409,EXAC_NFE_AF,COL4A4
470569,2:227973369:C>T,NM_000092.4:c.694-31G>A,\N,\N,11/47,Unknown significance,\N,intron_variant,4.894,0.0000150236,EXAC_NFE_AF,COL4A4
470570,2:227973380:T>A,NM_000092.4:c.694-42A>T,\N,\N,11/47,Unknown significance,\N,intron_variant,4.147,\N,\N,COL4A4
470571,2:227973408:T>A,NM_000092.4:c.694-70A>T,\N,\N,11/47,Unknown significance,\N,intron_variant,12.1,0.001,1KG_SAS_AF,COL4A4
470572,2:227973410:C>A,NM_000092.4:c.694-72G>T,\N,\N,11/47,Benign,\N,intron_variant,6.011,0.5964,1KG_EUR_AF,COL4A4
470573,2:227973428:G>C,NM_000092.4:c.694-90C>G,\N,\N,11/47,Unknown significance,\N,intron_variant,0.589,\N,\N,COL4A4
470574,2:227973436:T>C,NM_000092.4:c.694-98A>G,\N,\N,11/47,Unknown significance,\N,intron_variant,0.58,\N,\N,COL4A4
470575,2:227973490:GT>G,NM_000092.4:c.693+58del,\N,\N,11/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470576,2:227973492:G>A,NM_000092.4:c.693+57C>T,\N,\N,11/47,Unknown significance,\N,intron_variant,4.381,0.0008,1KG_AFR_AF,COL4A4
470577,2:227973494:T>G,NM_000092.4:c.693+55A>C,\N,\N,11/47,Unknown significance,\N,intron_variant,5.941,\N,\N,COL4A4
470578,2:227973506:T>C,NM_000092.4:c.693+43A>G,\N,\N,11/47,Benign,\N,intron_variant,1.083,0.0108254,EXAC_EAS_AF,COL4A4
470579,2:227973523:G>A,NM_000092.4:c.693+26C>T,\N,\N,11/47,Unknown significance,\N,intron_variant,2.956,0.0000944109,EXAC_AMR_AF,COL4A4
470580,2:227973528:A>G,NM_000092.4:c.693+21T>C,\N,\N,11/47,Unknown significance,\N,intron_variant,3.174,0.0000179167,EXAC_NFE_AF,COL4A4
470581,2:227973533:G>A,NM_000092.4:c.693+16C>T,\N,\N,11/47,Unknown significance,\N,intron_variant,2.149,0.0000681849,EXAC_SAS_AF,COL4A4
470582,2:227973534:C>T,NM_000092.4:c.693+15G>A,\N,\N,11/47,Unknown significance,\N,intron_variant,6.756,0.000093932,EXAC_AMR_AF,COL4A4
470583,2:227973540:A>G,NM_000092.4:c.693+9T>C,\N,\N,11/47,Unknown significance,\N,intron_variant,6.727,\N,\N,COL4A4
470584,2:227973542:T>C,NM_000092.4:c.693+7A>G,\N,\N,11/47,Unknown significance,\N,splice_region_variant&intron_variant,4.243,0.0000177494,EXAC_NFE_AF,COL4A4
470585,2:227973559:G>T,NM_000092.4:c.683C>A,NP_000083.3:p.Pro228Gln,11/48,\N,Unknown significance,\N,missense_variant,24,0.00122249,EXAC_OTH_AF,COL4A4
470586,2:227973562:C>T,NM_000092.4:c.680G>A,NP_000083.3:p.Arg227His,11/48,\N,Likely benign,\N,missense_variant,24.9,0.000269978,EVS_AA_AF,COL4A4
470587,2:227973563:G>A,NM_000092.4:c.679C>T,NP_000083.3:p.Arg227Cys,11/48,\N,Likely benign,\N,missense_variant,24.5,0.0000675311,EXAC_SAS_AF,COL4A4
470588,2:227973569:G>T,NM_000092.4:c.673C>A,NP_000083.3:p.Pro225Thr,11/48,\N,Unknown significance,\N,missense_variant,24.4,0.000121832,EVS_EA_AF,COL4A4
470589,2:227973576:C>T,NM_000092.4:c.666G>A,NP_000083.3:p.Pro222=,11/48,\N,Benign,\N,synonymous_variant,10.51,0.0257,1KG_AFR_AF,COL4A4
470590,2:227973577:G>A,NM_000092.4:c.665C>T,NP_000083.3:p.Pro222Leu,11/48,\N,Likely benign,\N,missense_variant,23.5,0.00121343,EXAC_SAS_AF,COL4A4
470591,2:227973583:C>T,NM_000092.4:c.659G>A,NP_000083.3:p.Gly220Glu,11/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.3,0.000067331,EXAC_SAS_AF,COL4A4
470592,2:227973591:C>T,NM_000092.4:c.658-7G>A,\N,\N,10/47,Unknown significance,\N,splice_region_variant&intron_variant,4.079,\N,\N,COL4A4
470593,2:227973593:A>T,NM_000092.4:c.658-9T>A,\N,\N,10/47,Unknown significance,\N,intron_variant,5.819,0.0000176541,EXAC_NFE_AF,COL4A4
470594,2:227973598:G>GA,NM_000092.4:c.658-15dup,\N,\N,10/47,Unknown significance,\N,intron_variant,\N,0.000784929,EXAC_EAS_AF,COL4A4
470595,2:227973598:GA>G,NM_000092.4:c.658-15del,\N,\N,10/47,Unknown significance,\N,intron_variant,0.048,0.0000177866,EXAC_NFE_AF,COL4A4
470596,2:227973604:AAC>A,NM_000092.4:c.658-22_658-21del,\N,\N,10/47,Unknown significance,\N,intron_variant,2.769,0.000130039,EXAC_EAS_AF,COL4A4
470597,2:227973610:AATCAATC>A,NM_000092.4:c.658-33_658-27del,\N,\N,10/47,Unknown significance,\N,intron_variant,4.398,\N,\N,COL4A4
470598,2:227973623:A>G,NM_000092.4:c.658-39T>C,\N,\N,10/47,Benign,\N,intron_variant,2.144,0.671,1KG_EUR_AF,COL4A4
470599,2:227973626:T>C,NM_000092.4:c.658-42A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,2.196,0.001,1KG_EAS_AF,COL4A4
470600,2:227973636:A>C,NM_000092.4:c.658-52T>G,\N,\N,10/47,Unknown significance,\N,intron_variant,8.117,0.000237869,EVS_EA_AF,COL4A4
470601,2:227973649:T>C,NM_000092.4:c.658-65A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,5.461,0.0008,1KG_AFR_AF,COL4A4
470602,2:227973651:G>A,NM_000092.4:c.658-67C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,6.201,\N,\N,COL4A4
470603,2:227973658:C>T,NM_000092.4:c.658-74G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,5.72,0.0045,1KG_AFR_AF,COL4A4
470604,2:227973787:G>A,NM_000092.4:c.657+153C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,3.958,0.001,1KG_EAS_AF,COL4A4
470605,2:227973805:T>C,NM_000092.4:c.657+135A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,4.655,\N,\N,COL4A4
470606,2:227973808:G>C,NM_000092.4:c.657+132C>G,\N,\N,10/47,Unknown significance,\N,intron_variant,0.359,0.0000153553,EXAC_NFE_AF,COL4A4
470607,2:227973823:T>C,NM_000092.4:c.657+117A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,1.368,0.0000153088,EXAC_NFE_AF,COL4A4
470608,2:227973824:C>T,NM_000092.4:c.657+116G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,5.543,0.0000606502,EXAC_SAS_AF,COL4A4
470609,2:227973825:G>A,NM_000092.4:c.657+115C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,1.96,0.001,1KG_SAS_AF,COL4A4
470610,2:227973826:AT>A,NM_000092.4:c.657+113del,\N,\N,10/47,Unknown significance,\N,intron_variant,1.767,0.000107481,EXAC_AFR_AF,COL4A4
470611,2:227973827:T>C,NM_000092.4:c.657+113A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,1.656,0.0000305455,EXAC_NFE_AF,COL4A4
470612,2:227973833:T>G,NM_000092.4:c.657+107A>C,\N,\N,10/47,Unknown significance,\N,intron_variant,5.201,0.000107021,EXAC_AFR_AF,COL4A4
470613,2:227973842:C>T,NM_000092.4:c.657+98G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,1.151,0.0000606502,EXAC_SAS_AF,COL4A4
470614,2:227973843:G>A,NM_000092.4:c.657+97C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,1.168,0.0000606428,EXAC_SAS_AF,COL4A4
470615,2:227973843:G>T,NM_000092.4:c.657+97C>A,\N,\N,10/47,Unknown significance,\N,intron_variant,0.274,0.000106045,EXAC_AFR_AF,COL4A4
470616,2:227973845:C>T,NM_000092.4:c.657+95G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,4.389,0.000116632,EXAC_EAS_AF,COL4A4
470617,2:227973866:A>G,NM_000092.4:c.657+74T>C,\N,\N,10/47,Unknown significance,\N,intron_variant,4.334,0.000103627,EXAC_AFR_AF,COL4A4
470618,2:227973867:T>C,NM_000092.4:c.657+73A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,4.232,0.0000150521,EXAC_NFE_AF,COL4A4
470619,2:227973870:CAAT>C,NM_000092.4:c.657+67_657+69del,\N,\N,10/47,Unknown significance,\N,intron_variant,6.399,\N,\N,COL4A4
470620,2:227973873:T>C,NM_000092.4:c.657+67A>G,\N,\N,10/47,Benign,\N,intron_variant,3.651,0.5673,1KG_AFR_AF,COL4A4
470621,2:227973874:G>A,NM_000092.4:c.657+66C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,3.672,0.0000150164,EXAC_NFE_AF,COL4A4
470622,2:227973877:GCTTC>G,NM_000092.4:c.657+59_657+62del,\N,\N,10/47,Unknown significance,\N,intron_variant,5.253,\N,\N,COL4A4
470623,2:227973878:C>T,NM_000092.4:c.657+62G>A,\N,\N,10/47,Benign,\N,intron_variant,4.602,0.559,1KG_AFR_AF,COL4A4
470624,2:227973880:T>G,NM_000092.4:c.657+60A>C,\N,\N,10/47,Unknown significance,\N,intron_variant,6.13,0.000121124,EXAC_SAS_AF,COL4A4
470625,2:227973881:C>T,NM_000092.4:c.657+59G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,3.306,\N,\N,COL4A4
470626,2:227973883:T>C,NM_000092.4:c.657+57A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,4.041,0.000102103,EXAC_AFR_AF,COL4A4
470627,2:227973885:A>G,NM_000092.4:c.657+55T>C,\N,\N,10/47,Unknown significance,\N,intron_variant,2.64,0.000139587,EVS_EA_AF,COL4A4
470628,2:227973892:T>A,NM_000092.4:c.657+48A>T,\N,\N,10/47,Unknown significance,\N,intron_variant,4.339,\N,\N,COL4A4
470629,2:227973892:T>C,NM_000092.4:c.657+48A>G,\N,\N,10/47,Benign,\N,intron_variant,1.36,0.7769,1KG_AFR_AF,COL4A4
470630,2:227973893:G>A,NM_000092.4:c.657+47C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,2.284,0.0000149957,EXAC_NFE_AF,COL4A4
470631,2:227973896:G>A,NM_000092.4:c.657+44C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,1.952,0.000432077,EXAC_AMR_AF,COL4A4
470632,2:227973901:T>C,NM_000092.4:c.657+39A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,5.066,0.0000149898,EXAC_NFE_AF,COL4A4
470633,2:227973905:T>C,NM_000092.4:c.657+35A>G,\N,\N,10/47,Unknown significance,\N,intron_variant,7.054,0.0000149903,EXAC_NFE_AF,COL4A4
470634,2:227973914:G>A,NM_000092.4:c.657+26C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,3.41,\N,\N,COL4A4
470635,2:227973919:C>T,NM_000092.4:c.657+21G>A,\N,\N,10/47,Unknown significance,\N,intron_variant,3.121,0.000014988,EXAC_NFE_AF,COL4A4
470636,2:227973924:G>A,NM_000092.4:c.657+16C>T,\N,\N,10/47,Unknown significance,\N,intron_variant,5.928,0.000060562,EXAC_SAS_AF,COL4A4
470637,2:227973932:G>A,NM_000092.4:c.657+8C>T,\N,\N,10/47,Unknown significance,\N,splice_region_variant&intron_variant,7.6,0.00111111,EXAC_OTH_AF,COL4A4
470638,2:227973945:A>C,NM_000092.4:c.652T>G,NP_000083.3:p.Leu218Val,10/48,\N,Likely benign,\N,missense_variant,15.76,\N,\N,COL4A4
470639,2:227973946:C>T,NM_000092.4:c.651G>A,NP_000083.3:p.Gly217=,10/48,\N,Unknown significance,\N,synonymous_variant,10.66,\N,\N,COL4A4
470640,2:227973962:T>A,NM_000092.4:c.635A>T,NP_000083.3:p.Tyr212Phe,10/48,\N,Likely benign,\N,missense_variant,0.054,0.000060562,EXAC_SAS_AF,COL4A4
470641,2:227973963:A>C,NM_000092.4:c.634T>G,NP_000083.3:p.Tyr212Asp,10/48,\N,Likely benign,\N,missense_variant,0.125,\N,\N,COL4A4
470642,2:227973965:C>A,NM_000092.4:c.632G>T,NP_000083.3:p.Gly211Val,10/48,\N,Unknown significance,\N,missense_variant,25.3,\N,\N,COL4A4
470643,2:227973968:GT>G,NM_000092.4:c.628del,NP_000083.3:p.Thr210GlnfsTer9,10/48,\N,Unknown significance,\N,frameshift_variant,9.167,\N,\N,COL4A4
470644,2:227973969:T>G,NM_000092.4:c.628A>C,NP_000083.3:p.Thr210Pro,10/48,\N,Likely benign,\N,missense_variant,3.944,\N,\N,COL4A4
470645,2:227973972:G>C,NM_000092.4:c.625C>G,NP_000083.3:p.Pro209Ala,10/48,\N,Unknown significance,\N,missense_variant,11.9,\N,\N,COL4A4
470646,2:227973972:G>T,NM_000092.4:c.625C>A,NP_000083.3:p.Pro209Thr,10/48,\N,Unknown significance,\N,missense_variant,15.26,\N,\N,COL4A4
470647,2:227973973:A>AC,NM_000092.4:c.623dup,NP_000083.3:p.Pro209SerfsTer39,10/48,\N,Unknown significance,\N,frameshift_variant,27,\N,\N,COL4A4
470648,2:227973973:A>C,NM_000092.4:c.624T>G,NP_000083.3:p.Gly208=,10/48,\N,Unknown significance,\N,synonymous_variant,0.022,\N,\N,COL4A4
470649,2:227973974:C>T,NM_000092.4:c.623G>A,NP_000083.3:p.Gly208Asp,10/48,\N,Pathogenic,Glomerular microscopic haematuria,missense_variant,25.5,\N,\N,COL4A4
470650,2:227973977:G>A,NM_000092.4:c.620C>T,NP_000083.3:p.Ala207Val,10/48,\N,Likely benign,\N,missense_variant,1.03,0.0001213,EVS_EA_AF,COL4A4
470651,2:227973980:G>A,NM_000092.4:c.617C>T,NP_000083.3:p.Pro206Leu,10/48,\N,Unknown significance,\N,missense_variant,22.8,0.0008,1KG_AFR_AF,COL4A4
470652,2:227973993:C>G,NM_000092.4:c.604G>C,NP_000083.3:p.Gly202Arg,10/48,\N,Unknown significance,\N,missense_variant,31,0.0000149858,EXAC_NFE_AF,COL4A4
470653,2:227973995:C>T,NM_000092.4:c.602G>A,NP_000083.3:p.Trp201Ter,10/48,\N,Unknown significance,\N,stop_gained,37,\N,\N,COL4A4
470654,2:227973997:A>T,NM_000092.4:c.600T>A,NP_000083.3:p.Ser200=,10/48,\N,Unknown significance,\N,synonymous_variant,1.896,0.001,1KG_EAS_AF,COL4A4
470655,2:227974002:C>G,NM_000092.4:c.595G>C,NP_000083.3:p.Gly199Arg,10/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.0000149858,EXAC_NFE_AF,COL4A4
470656,2:227974002:C>T,NM_000092.4:c.595G>A,NP_000083.3:p.Gly199Arg,10/48,\N,Pathogenic,Thin basement membrane disease,missense_variant&splice_region_variant,33,\N,\N,COL4A4
470657,2:227974005:A>T,NM_000092.4:c.595-3T>A,\N,\N,9/47,Unknown significance,\N,splice_region_variant&intron_variant,13.04,0.0000149871,EXAC_NFE_AF,COL4A4
470658,2:227974009:A>T,NM_000092.4:c.595-7T>A,\N,\N,9/47,Unknown significance,\N,splice_region_variant&intron_variant,12.36,0.0000149867,EXAC_NFE_AF,COL4A4
470659,2:227974010:T>G,NM_000092.4:c.595-8A>C,\N,\N,9/47,Unknown significance,\N,splice_region_variant&intron_variant,11.61,0.000232126,EXAC_EAS_AF,COL4A4
470660,2:227974012:A>G,NM_000092.4:c.595-10T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,15.44,0.00105836,EXAC_FIN_AF,COL4A4
470661,2:227974020:C>T,NM_000092.4:c.595-18G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,12.19,0.000524659,EVS_AA_AF,COL4A4
470662,2:227974030:G>C,NM_000092.4:c.595-28C>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.251,0.001,1KG_EAS_AF,COL4A4
470663,2:227974043:G>A,NM_000092.4:c.595-41C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,3.617,0.0015,1KG_AFR_AF,COL4A4
470664,2:227974043:G>T,NM_000092.4:c.595-41C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,1.521,\N,\N,COL4A4
470665,2:227974047:T>A,NM_000092.4:c.595-45A>T,\N,\N,9/47,Unknown significance,\N,intron_variant,9.173,\N,\N,COL4A4
470666,2:227974069:C>T,NM_000092.4:c.595-67G>A,\N,\N,9/47,Benign,\N,intron_variant,2.676,0.0143,1KG_SAS_AF,COL4A4
470667,2:227974070:G>A,NM_000092.4:c.595-68C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.922,0.000314268,EVS_EA_AF,COL4A4
470668,2:227974070:G>T,NM_000092.4:c.595-68C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.711,\N,\N,COL4A4
470669,2:227974071:T>A,NM_000092.4:c.595-69A>T,\N,\N,9/47,Unknown significance,\N,intron_variant,6.97,\N,\N,COL4A4
470670,2:227974077:C>A,NM_000092.4:c.595-75G>T,\N,\N,9/47,Unknown significance,\N,intron_variant,4.651,0.001,1KG_EUR_AF,COL4A4
470671,2:227974101:G>A,NM_000092.4:c.595-99C>T,\N,\N,9/47,Benign,\N,intron_variant,1.906,0.0058,1KG_AMR_AF,COL4A4
470672,2:227974106:C>T,NM_000092.4:c.595-104G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,3.74,0.001,1KG_EUR_AF,COL4A4
470673,2:227974113:A>G,NM_000092.4:c.595-111T>C,\N,\N,9/47,Benign,\N,intron_variant,4.095,0.9085,1KG_AFR_AF,COL4A4
470674,2:227974121:A>G,NM_000092.4:c.595-119T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,2.153,\N,\N,COL4A4
470675,2:227974140:T>C,NM_000092.4:c.595-138A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.083,0.001,1KG_SAS_AF,COL4A4
470676,2:227974144:AAC>A,NM_000092.4:c.595-144_595-143del,\N,\N,9/47,Unknown significance,\N,intron_variant,2.122,\N,\N,COL4A4
470677,2:227974164:C>T,NM_000092.4:c.595-162G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,2.42,0.0038,1KG_AFR_AF,COL4A4
470678,2:227974176:C>T,NM_000092.4:c.595-174G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,4.133,\N,\N,COL4A4
470679,2:227974187:G>A,NM_000092.4:c.595-185C>T,\N,\N,9/47,Benign,\N,intron_variant,0.194,0.0253293,EXAC_SAS_AF,COL4A4
470680,2:227974190:C>T,NM_000092.4:c.595-188G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.274,\N,\N,COL4A4
470681,2:227974191:A>G,NM_000092.4:c.595-189T>C,\N,\N,9/47,Benign,\N,intron_variant,0.399,0.9781,1KG_AFR_AF,COL4A4
470682,2:227974191:ACG>GCA,NM_000092.4:c.595-191_595-189delinsTGC,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470683,2:227974192:C>T,NM_000092.4:c.595-190G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.337,0.00156495,EXAC_SAS_AF,COL4A4
470684,2:227974193:G>A,NM_000092.4:c.595-191C>T,\N,\N,9/47,Benign,\N,intron_variant,0.15,0.517354,EXAC_AFR_AF,COL4A4
470685,2:227974193:G>GCA,NM_000092.4:c.595-192_595-191insTG,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470686,2:227974228:G>T,NM_000092.4:c.595-226C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.744,0.00140371,EXAC_SAS_AF,COL4A4
470687,2:227974233:G>A,NM_000092.4:c.595-231C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.332,0.001,1KG_EUR_AF,COL4A4
470688,2:227974233:G>C,NM_000092.4:c.595-231C>G,\N,\N,9/47,Benign,\N,intron_variant,0.312,0.00505051,EXAC_AMR_AF,COL4A4
470689,2:227974235:G>A,NM_000092.4:c.595-233C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.355,\N,\N,COL4A4
470690,2:227974237:G>A,NM_000092.4:c.595-235C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.046,0.000142735,EXAC_SAS_AF,COL4A4
470691,2:227974257:G>A,NM_000092.4:c.595-255C>T,\N,\N,9/47,Benign,\N,intron_variant,1.571,0.0136,1KG_AFR_AF,COL4A4
470692,2:227974260:C>G,NM_000092.4:c.595-258G>C,\N,\N,9/47,Benign,\N,intron_variant,0.257,0.005,1KG_EAS_AF,COL4A4
470693,2:227974260:C>T,NM_000092.4:c.595-258G>A,\N,\N,9/47,Benign,\N,intron_variant,0.481,0.0424,1KG_AFR_AF,COL4A4
470694,2:227974265:C>G,NM_000092.4:c.595-263G>C,\N,\N,9/47,Unknown significance,\N,intron_variant,2.374,\N,\N,COL4A4
470695,2:227974278:C>T,NM_000092.4:c.595-276G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,3.214,0.0045,1KG_AFR_AF,COL4A4
470696,2:227974306:T>TA,NM_000092.4:c.595-305dup,\N,\N,9/47,Benign,\N,intron_variant,1.516,0.5076,1KG_AFR_AF,COL4A4
470697,2:227974329:G>A,NM_000092.4:c.595-327C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.118,0.001,1KG_EAS_AF,COL4A4
470698,2:227974336:G>A,NM_000092.4:c.595-334C>T,\N,\N,9/47,Benign,\N,intron_variant,1.746,0.1604,1KG_AFR_AF,COL4A4
470699,2:227974344:T>G,NM_000092.4:c.595-342A>C,\N,\N,9/47,Unknown significance,\N,intron_variant,3.729,0.002,1KG_EAS_AF,COL4A4
470700,2:227974360:G>A,NM_000092.4:c.595-358C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.383,\N,\N,COL4A4
470701,2:227974376:T>A,NM_000092.4:c.595-374A>T,\N,\N,9/47,Unknown significance,\N,intron_variant,5.263,0.0008,1KG_AFR_AF,COL4A4
470702,2:227974377:C>T,NM_000092.4:c.595-375G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.477,0.0008,1KG_AFR_AF,COL4A4
470703,2:227974377:CGC>TGT,NM_000092.4:c.595-377_595-375delinsACA,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470704,2:227974379:C>T,NM_000092.4:c.595-377G>A,\N,\N,9/47,Benign,\N,intron_variant,2.48,0.5076,1KG_AFR_AF,COL4A4
470705,2:227974400:T>C,NM_000092.4:c.595-398A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.085,\N,\N,COL4A4
470706,2:227974411:C>T,NM_000092.4:c.595-409G>A,\N,\N,9/47,Benign,\N,intron_variant,1.645,0.0099,1KG_EUR_AF,COL4A4
470707,2:227974412:G>A,NM_000092.4:c.595-410C>T,\N,\N,9/47,Benign,\N,intron_variant,0.138,0.5076,1KG_AFR_AF,COL4A4
470708,2:227974416:T>C,NM_000092.4:c.595-414A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.095,0.0023,1KG_AFR_AF,COL4A4
470709,2:227974419:T>C,NM_000092.4:c.595-417A>G,\N,\N,9/47,Benign,\N,intron_variant,0.127,0.5076,1KG_AFR_AF,COL4A4
470710,2:227974426:GC>G,NM_000092.4:c.595-425del,\N,\N,9/47,Benign,\N,intron_variant,4.856,0.0227,1KG_AFR_AF,COL4A4
470711,2:227974497:G>A,NM_000092.4:c.595-495C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.093,\N,\N,COL4A4
470712,2:227974585:T>C,NM_000092.4:c.595-583A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,3.555,0.001,1KG_SAS_AF,COL4A4
470713,2:227974621:C>A,NM_000092.4:c.595-619G>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.855,0.0008,1KG_AFR_AF,COL4A4
470714,2:227974627:C>T,NM_000092.4:c.595-625G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,4.123,\N,\N,COL4A4
470715,2:227974668:A>G,NM_000092.4:c.595-666T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,1.637,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
470716,2:227974678:TATTA>T,NM_000092.4:c.595-680_595-677del,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470717,2:227974679:A>T,NM_000092.4:c.595-677T>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.598,\N,\N,COL4A4
470718,2:227974696:A>G,NM_000092.4:c.595-694T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,3.061,\N,\N,COL4A4
470719,2:227974702:G>A,NM_000092.4:c.595-700C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.991,\N,\N,COL4A4
470720,2:227974715:T>C,NM_000092.4:c.595-713A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.894,0.002,1KG_SAS_AF,COL4A4
470721,2:227974756:C>T,NM_000092.4:c.595-754G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,1.232,\N,\N,COL4A4
470722,2:227974775:T>A,NM_000092.4:c.595-773A>T,\N,\N,9/47,Unknown significance,\N,intron_variant,5.633,0.0008,1KG_AFR_AF,COL4A4
470723,2:227974826:T>C,NM_000092.4:c.595-824A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,2.507,\N,\N,COL4A4
470724,2:227974899:C>T,NM_000092.4:c.595-897G>A,\N,\N,9/47,Benign,\N,intron_variant,0.618,0.4932,1KG_AFR_AF,COL4A4
470725,2:227974900:G>C,NM_000092.4:c.595-898C>G,\N,\N,9/47,Benign,\N,intron_variant,0.766,0.211,1KG_AFR_AF,COL4A4
470726,2:227974915:C>T,NM_000092.4:c.595-913G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,5.861,0.0008,1KG_AFR_AF,COL4A4
470727,2:227974922:G>A,NM_000092.4:c.595-920C>T,\N,\N,9/47,Benign,\N,intron_variant,2.382,0.4932,1KG_AFR_AF,COL4A4
470728,2:227974932:T>C,NM_000092.4:c.595-930A>G,\N,\N,9/47,Benign,\N,intron_variant,3.019,0.2095,1KG_AFR_AF,COL4A4
470729,2:227974935:G>T,NM_000092.4:c.595-933C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,1.894,\N,\N,COL4A4
470730,2:227974998:T>C,NM_000092.4:c.595-996A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.835,0.001,1KG_EAS_AF,COL4A4
470731,2:227975027:G>A,NM_000092.4:c.595-1025C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.167,\N,\N,COL4A4
470732,2:227975055:C>T,NM_000092.4:c.595-1053G>A,\N,\N,9/47,Benign,\N,intron_variant,2.827,0.0144,1KG_AFR_AF,COL4A4
470733,2:227975066:G>A,NM_000092.4:c.595-1064C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.083,0.0008,1KG_AFR_AF,COL4A4
470734,2:227975094:C>A,NM_000092.4:c.595-1092G>T,\N,\N,9/47,Unknown significance,\N,intron_variant,5.844,\N,\N,COL4A4
470735,2:227975099:T>C,NM_000092.4:c.595-1097A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,2.541,0.001,1KG_EAS_AF,COL4A4
470736,2:227975119:G>C,NM_000092.4:c.595-1117C>G,\N,\N,9/47,Benign,\N,intron_variant,0.34,0.0424,1KG_AFR_AF,COL4A4
470737,2:227975138:C>T,NM_000092.4:c.595-1136G>A,\N,\N,9/47,Benign,\N,intron_variant,0.695,0.2103,1KG_AFR_AF,COL4A4
470738,2:227975139:G>A,NM_000092.4:c.595-1137C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.601,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
470739,2:227975162:A>C,NM_000092.4:c.595-1160T>G,\N,\N,9/47,Benign,\N,intron_variant,0.7,0.4932,1KG_AFR_AF,COL4A4
470740,2:227975193:G>C,NM_000092.4:c.595-1191C>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.25,0.0015,1KG_AFR_AF,COL4A4
470741,2:227975211:G>C,NM_000092.4:c.594+1183C>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.151,0.0008,1KG_AFR_AF,COL4A4
470742,2:227975226:G>T,NM_000092.4:c.594+1168C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,2.391,\N,\N,COL4A4
470743,2:227975242:C>G,NM_000092.4:c.594+1152G>C,\N,\N,9/47,Benign,\N,intron_variant,1.632,0.4932,1KG_AFR_AF,COL4A4
470744,2:227975245:C>T,NM_000092.4:c.594+1149G>A,\N,\N,9/47,Benign,\N,intron_variant,0.169,0.0424,1KG_AFR_AF,COL4A4
470745,2:227975255:C>T,NM_000092.4:c.594+1139G>A,\N,\N,9/47,Benign,\N,intron_variant,1.178,0.006,1KG_EAS_AF,COL4A4
470746,2:227975280:G>C,NM_000092.4:c.594+1114C>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.307,0.0008,1KG_AFR_AF,COL4A4
470747,2:227975283:G>A,NM_000092.4:c.594+1111C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.39,0.002,1KG_EUR_AF,COL4A4
470748,2:227975287:C>T,NM_000092.4:c.594+1107G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.221,0.001,1KG_SAS_AF,COL4A4
470749,2:227975314:G>A,NM_000092.4:c.594+1080C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.278,\N,\N,COL4A4
470750,2:227975396:C>CT,NM_000092.4:c.594+997dup,\N,\N,9/47,Unknown significance,\N,intron_variant,0.786,\N,\N,COL4A4
470751,2:227975396:CTT>C,NM_000092.4:c.594+996_594+997del,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470752,2:227975421:T>TGGAGTTTCA,NM_000092.4:c.594+964_594+972dup,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470753,2:227975439:G>A,NM_000092.4:c.594+955C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,6.443,0.001,1KG_SAS_AF,COL4A4
470754,2:227975446:C>G,NM_000092.4:c.594+948G>C,\N,\N,9/47,Unknown significance,\N,intron_variant,5.679,0.0023,1KG_AFR_AF,COL4A4
470755,2:227975546:G>A,NM_000092.4:c.594+848C>T,\N,\N,9/47,Benign,\N,intron_variant,0.415,0.4932,1KG_AFR_AF,COL4A4
470756,2:227975546:GC>AT,NM_000092.4:c.594+847_594+848delinsAT,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470757,2:227975547:C>T,NM_000092.4:c.594+847G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.088,0.0008,1KG_AFR_AF,COL4A4
470758,2:227975569:C>T,NM_000092.4:c.594+825G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.305,0.0015,1KG_AFR_AF,COL4A4
470759,2:227975570:G>A,NM_000092.4:c.594+824C>T,\N,\N,9/47,Benign,\N,intron_variant,0.879,0.1672,1KG_AFR_AF,COL4A4
470760,2:227975583:A>T,NM_000092.4:c.594+811T>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.348,0.002,1KG_EAS_AF,COL4A4
470761,2:227975631:C>A,NM_000092.4:c.594+763G>T,\N,\N,9/47,Unknown significance,\N,intron_variant,2.156,\N,\N,COL4A4
470762,2:227975647:T>C,NM_000092.4:c.594+747A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.005,0.001,1KG_SAS_AF,COL4A4
470763,2:227975656:A>G,NM_000092.4:c.594+738T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,3.005,\N,\N,COL4A4
470764,2:227975658:A>T,NM_000092.4:c.594+736T>A,\N,\N,9/47,Unknown significance,\N,intron_variant,1.388,0.0015,1KG_AFR_AF,COL4A4
470765,2:227975664:GGGAT>G,NM_000092.4:c.594+726_594+729del,\N,\N,9/47,Unknown significance,\N,intron_variant,2.673,0.003,1KG_EAS_AF,COL4A4
470766,2:227975669:T>C,NM_000092.4:c.594+725A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,2.827,0.003,1KG_EAS_AF,COL4A4
470767,2:227975695:C>T,NM_000092.4:c.594+699G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.033,\N,\N,COL4A4
470768,2:227975696:G>A,NM_000092.4:c.594+698C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.024,0.0014,1KG_AMR_AF,COL4A4
470769,2:227975697:G>A,NM_000092.4:c.594+697C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.442,0.0045,1KG_AFR_AF,COL4A4
470770,2:227975705:G>C,NM_000092.4:c.594+689C>G,\N,\N,9/47,Benign,\N,intron_variant,0.789,0.0169,1KG_EUR_AF,COL4A4
470771,2:227975718:G>A,NM_000092.4:c.594+676C>T,\N,\N,9/47,Benign,\N,intron_variant,5.7,0.4932,1KG_AFR_AF,COL4A4
470772,2:227975727:A>T,NM_000092.4:c.594+667T>A,\N,\N,9/47,Benign,\N,intron_variant,2.878,0.0144,1KG_AFR_AF,COL4A4
470773,2:227975729:A>T,NM_000092.4:c.594+665T>A,\N,\N,9/47,Benign,\N,intron_variant,2.764,0.0295,1KG_AFR_AF,COL4A4
470774,2:227975784:C>A,NM_000092.4:c.594+610G>T,\N,\N,9/47,Benign,\N,intron_variant,2.107,0.0234,1KG_AFR_AF,COL4A4
470775,2:227975785:G>A,NM_000092.4:c.594+609C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,4.612,0.001,1KG_EUR_AF,COL4A4
470776,2:227975789:C>T,NM_000092.4:c.594+605G>A,\N,\N,9/47,Benign,\N,intron_variant,4.222,0.0079,1KG_EAS_AF,COL4A4
470777,2:227975801:A>G,NM_000092.4:c.594+593T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,2.807,\N,\N,COL4A4
470778,2:227975804:A>G,NM_000092.4:c.594+590T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,5.112,\N,\N,COL4A4
470779,2:227975920:C>T,NM_000092.4:c.594+474G>A,\N,\N,9/47,Benign,\N,intron_variant,7.623,0.4939,1KG_AFR_AF,COL4A4
470780,2:227975934:A>G,NM_000092.4:c.594+460T>C,\N,\N,9/47,Benign,\N,intron_variant,1.019,0.0266,1KG_SAS_AF,COL4A4
470781,2:227976004:G>T,NM_000092.4:c.594+390C>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.307,0.002,1KG_SAS_AF,COL4A4
470782,2:227976005:C>T,NM_000092.4:c.594+389G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,0.212,\N,\N,COL4A4
470783,2:227976032:T>C,NM_000092.4:c.594+362A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.383,\N,\N,COL4A4
470784,2:227976047:A>G,NM_000092.4:c.594+347T>C,\N,\N,9/47,Benign,\N,intron_variant,2.161,0.0303,1KG_AFR_AF,COL4A4
470785,2:227976048:T>C,NM_000092.4:c.594+346A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,2.179,\N,\N,COL4A4
470786,2:227976050:T>G,NM_000092.4:c.594+344A>C,\N,\N,9/47,Unknown significance,\N,intron_variant,3.363,\N,\N,COL4A4
470787,2:227976053:T>C,NM_000092.4:c.594+341A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.361,0.0008,1KG_AFR_AF,COL4A4
470788,2:227976060:G>C,NM_000092.4:c.594+334C>G,\N,\N,9/47,Benign,\N,intron_variant,0.305,0.211,1KG_AFR_AF,COL4A4
470789,2:227976073:C>T,NM_000092.4:c.594+321G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,3.105,\N,\N,COL4A4
470790,2:227976087:G>GC,NM_000092.4:c.594+306_594+307insG,\N,\N,9/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470791,2:227976102:AG>A,NM_000092.4:c.594+291del,\N,\N,9/47,Unknown significance,\N,intron_variant,0.917,0.003,1KG_AFR_AF,COL4A4
470792,2:227976113:G>A,NM_000092.4:c.594+281C>T,\N,\N,9/47,Benign,\N,intron_variant,2.177,0.4939,1KG_AFR_AF,COL4A4
470793,2:227976118:C>A,NM_000092.4:c.594+276G>T,\N,\N,9/47,Benign,\N,intron_variant,5.415,0.4939,1KG_AFR_AF,COL4A4
470794,2:227976170:A>G,NM_000092.4:c.594+224T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,0.643,\N,\N,COL4A4
470795,2:227976183:T>C,NM_000092.4:c.594+211A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.433,0.003,1KG_AFR_AF,COL4A4
470796,2:227976189:T>A,NM_000092.4:c.594+205A>T,\N,\N,9/47,Unknown significance,\N,intron_variant,1.876,0.0043,1KG_AMR_AF,COL4A4
470797,2:227976189:T>C,NM_000092.4:c.594+205A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.332,\N,\N,COL4A4
470798,2:227976219:T>C,NM_000092.4:c.594+175A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.254,0.002,1KG_SAS_AF,COL4A4
470799,2:227976226:T>C,NM_000092.4:c.594+168A>G,\N,\N,9/47,Benign,\N,intron_variant,3.282,0.4569,1KG_AFR_AF,COL4A4
470800,2:227976230:C>A,NM_000092.4:c.594+164G>T,\N,\N,9/47,Benign,\N,intron_variant,1.096,0.4569,1KG_AFR_AF,COL4A4
470801,2:227976285:C>T,NM_000092.4:c.594+109G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,2.636,\N,\N,COL4A4
470802,2:227976298:G>A,NM_000092.4:c.594+96C>T,\N,\N,9/47,Benign,\N,intron_variant,0.703,0.211,1KG_AFR_AF,COL4A4
470803,2:227976308:T>C,NM_000092.4:c.594+86A>G,\N,\N,9/47,Benign,\N,intron_variant,11.01,0.031,1KG_AFR_AF,COL4A4
470804,2:227976311:A>C,NM_000092.4:c.594+83T>G,\N,\N,9/47,Unknown significance,\N,intron_variant,11.9,0.000722543,EVS_AA_AF,COL4A4
470805,2:227976312:G>A,NM_000092.4:c.594+82C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,12.45,\N,\N,COL4A4
470806,2:227976326:G>C,NM_000092.4:c.594+68C>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.482,\N,\N,COL4A4
470807,2:227976331:A>G,NM_000092.4:c.594+63T>C,\N,\N,9/47,Benign,\N,intron_variant,4.837,0.1626,1KG_AFR_AF,COL4A4
470808,2:227976344:A>G,NM_000092.4:c.594+50T>C,\N,\N,9/47,Unknown significance,\N,intron_variant,1.891,0.0000149957,EXAC_NFE_AF,COL4A4
470809,2:227976350:T>C,NM_000092.4:c.594+44A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,1.193,0.000060584,EXAC_SAS_AF,COL4A4
470810,2:227976351:T>C,NM_000092.4:c.594+43A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,3.103,0.0000865202,EXAC_AMR_AF,COL4A4
470811,2:227976364:A>C,NM_000092.4:c.594+30T>G,\N,\N,9/47,Unknown significance,\N,intron_variant,0.753,0.0000605987,EXAC_SAS_AF,COL4A4
470812,2:227976368:G>A,NM_000092.4:c.594+26C>T,\N,\N,9/47,Unknown significance,\N,intron_variant,3.25,0.0000299886,EXAC_NFE_AF,COL4A4
470813,2:227976371:T>C,NM_000092.4:c.594+23A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,2.167,0.0000865202,EXAC_AMR_AF,COL4A4
470814,2:227976376:C>T,NM_000092.4:c.594+18G>A,\N,\N,9/47,Unknown significance,\N,intron_variant,11.93,0.0000149934,EXAC_NFE_AF,COL4A4
470815,2:227976381:T>C,NM_000092.4:c.594+13A>G,\N,\N,9/47,Unknown significance,\N,intron_variant,15.1,0.00111111,EXAC_OTH_AF,COL4A4
470816,2:227976381:TC>T,NM_000092.4:c.594+12del,\N,\N,9/47,Unknown significance,\N,intron_variant,14.92,0.000121197,EXAC_SAS_AF,COL4A4
470817,2:227976395:G>A,NM_000092.4:c.593C>T,NP_000083.3:p.Pro198Leu,9/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,20.2,0.0000300003,EXAC_NFE_AF,COL4A4
470818,2:227976400:G>A,NM_000092.4:c.588C>T,NP_000083.3:p.Gly196=,9/48,\N,Unknown significance,\N,synonymous_variant,13.04,0.000121655,EVS_EA_AF,COL4A4
470819,2:227976406:C>T,NM_000092.4:c.582G>A,NP_000083.3:p.Leu194=,9/48,\N,Unknown significance,\N,synonymous_variant,11.32,0.0000606575,EXAC_SAS_AF,COL4A4
470820,2:227976414:G>C,NM_000092.4:c.574C>G,NP_000083.3:p.Pro192Ala,9/48,\N,Unknown significance,\N,missense_variant,23.1,0.000116496,EXAC_EAS_AF,COL4A4
470821,2:227976415:G>A,NM_000092.4:c.573C>T,NP_000083.3:p.Asp191=,9/48,\N,Unknown significance,\N,synonymous_variant,7.12,0.000116496,EXAC_EAS_AF,COL4A4
470822,2:227976418:C>A,NM_000092.4:c.570G>T,NP_000083.3:p.Gly190=,9/48,\N,Unknown significance,\N,synonymous_variant,12.5,0.0000607755,EXAC_SAS_AF,COL4A4
470823,2:227976420:C>T,NM_000092.4:c.568G>A,NP_000083.3:p.Gly190Arg,9/48,\N,Unknown significance,\N,missense_variant,32,0.0000150096,EXAC_NFE_AF,COL4A4
470824,2:227976425:T>C,NM_000092.4:c.563A>G,NP_000083.3:p.Asp188Gly,9/48,\N,Unknown significance,\N,missense_variant,24.5,0.001,1KG_EUR_AF,COL4A4
470825,2:227976427:TC>T,NM_000092.4:c.560del,NP_000083.3:p.Gly187GlufsTer32,9/48,\N,Pathogenic,Alport syndrome,frameshift_variant&splice_region_variant,35,0.000116604,EXAC_EAS_AF,COL4A4
470826,2:227976431:T>A,NM_000092.4:c.559-2A>T,\N,\N,8/47,Unknown significance,\N,splice_acceptor_variant,24.9,0.0000869414,EXAC_AMR_AF,COL4A4
470827,2:227976433:C>A,NM_000092.4:c.559-4G>T,\N,\N,8/47,Unknown significance,\N,splice_region_variant&intron_variant,12.36,\N,\N,COL4A4
470828,2:227976433:CA>C,NM_000092.4:c.559-5del,\N,\N,8/47,Unknown significance,\N,splice_region_variant&intron_variant,15.07,\N,\N,COL4A4
470829,2:227976439:T>C,NM_000092.4:c.559-10A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.904,\N,\N,COL4A4
470830,2:227976445:T>C,NM_000092.4:c.559-16A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.388,\N,\N,COL4A4
470831,2:227976450:T>C,NM_000092.4:c.559-21A>G,\N,\N,8/47,Benign,\N,intron_variant,0.859,0.0228649,EXAC_FIN_AF,COL4A4
470832,2:227976460:C>A,NM_000092.4:c.559-31G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.727,0.000135952,EXAC_NFE_AF,COL4A4
470833,2:227976461:C>T,NM_000092.4:c.559-32G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.822,0.000236351,EXAC_EAS_AF,COL4A4
470834,2:227976463:C>T,NM_000092.4:c.559-34G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,3.43,0.0000302371,EXAC_NFE_AF,COL4A4
470835,2:227976474:T>A,NM_000092.4:c.559-45A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,3.617,0.0000608587,EXAC_NFE_AF,COL4A4
470836,2:227976481:G>A,NM_000092.4:c.559-52C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.888,0.000311876,EXAC_SAS_AF,COL4A4
470837,2:227976533:G>A,NM_000092.4:c.559-104C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,9.891,\N,\N,COL4A4
470838,2:227976547:T>A,NM_000092.4:c.559-118A>T,\N,\N,8/47,Benign,\N,intron_variant,8.68,0.0076,1KG_AFR_AF,COL4A4
470839,2:227976556:G>A,NM_000092.4:c.559-127C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.989,0.0031,1KG_SAS_AF,COL4A4
470840,2:227976573:A>G,NM_000092.4:c.559-144T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.633,0.0015,1KG_AFR_AF,COL4A4
470841,2:227976575:G>A,NM_000092.4:c.559-146C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,3.024,\N,\N,COL4A4
470842,2:227976581:T>C,NM_000092.4:c.559-152A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.929,\N,\N,COL4A4
470843,2:227976584:G>A,NM_000092.4:c.559-155C>T,\N,\N,8/47,Benign,\N,intron_variant,0.886,0.1142,1KG_AFR_AF,COL4A4
470844,2:227976605:T>G,NM_000092.4:c.559-176A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.515,0.001,1KG_EAS_AF,COL4A4
470845,2:227976670:T>C,NM_000092.4:c.559-241A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.28,\N,\N,COL4A4
470846,2:227976681:C>A,NM_000092.4:c.559-252G>T,\N,\N,8/47,Benign,\N,intron_variant,9.48,0.0121,1KG_AFR_AF,COL4A4
470847,2:227976716:G>A,NM_000092.4:c.559-287C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,11.48,\N,\N,COL4A4
470848,2:227976727:TCA>T,NM_000092.4:c.559-300_559-299del,\N,\N,8/47,Benign,\N,intron_variant,7.927,0.0089,1KG_EUR_AF,COL4A4
470849,2:227976731:A>G,NM_000092.4:c.559-302T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.637,\N,\N,COL4A4
470850,2:227976739:T>C,NM_000092.4:c.559-310A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.029,0.003,1KG_EAS_AF,COL4A4
470851,2:227976749:G>C,NM_000092.4:c.559-320C>G,\N,\N,8/47,Benign,\N,intron_variant,1.936,0.3215,1KG_AFR_AF,COL4A4
470852,2:227976758:C>T,NM_000092.4:c.559-329G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.878,0.001,1KG_SAS_AF,COL4A4
470853,2:227976768:T>G,NM_000092.4:c.559-339A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.32,0.002,1KG_EUR_AF,COL4A4
470854,2:227976770:C>CT,NM_000092.4:c.559-342dup,\N,\N,8/47,Unknown significance,\N,intron_variant,2.886,0.0015,1KG_AFR_AF,COL4A4
470855,2:227976809:G>A,NM_000092.4:c.559-380C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.799,0.0008,1KG_AFR_AF,COL4A4
470856,2:227976844:CCAG>C,NM_000092.4:c.559-418_559-416del,\N,\N,8/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470857,2:227976851:C>G,NM_000092.4:c.559-422G>C,\N,\N,8/47,Benign,\N,intron_variant,2.17,0.0051,1KG_SAS_AF,COL4A4
470858,2:227976876:T>C,NM_000092.4:c.559-447A>G,\N,\N,8/47,Benign,\N,intron_variant,3.269,0.143,1KG_AFR_AF,COL4A4
470859,2:227976877:CTG>C,NM_000092.4:c.559-450_559-449del,\N,\N,8/47,Unknown significance,\N,intron_variant,4.605,\N,\N,COL4A4
470860,2:227976925:C>G,NM_000092.4:c.559-496G>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.925,\N,\N,COL4A4
470861,2:227976975:A>T,NM_000092.4:c.559-546T>A,\N,\N,8/47,Benign,\N,intron_variant,0.233,0.1354,1KG_AFR_AF,COL4A4
470862,2:227976981:T>C,NM_000092.4:c.559-552A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.367,0.001,1KG_EAS_AF,COL4A4
470863,2:227976988:C>CTTT,NM_000092.4:c.559-562_559-560dup,\N,\N,8/47,Benign,\N,intron_variant,4.053,0.1293,1KG_AFR_AF,COL4A4
470864,2:227977000:T>G,NM_000092.4:c.559-571A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.836,\N,\N,COL4A4
470865,2:227977001:T>G,NM_000092.4:c.559-572A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.49,\N,\N,COL4A4
470866,2:227977015:G>A,NM_000092.4:c.559-586C>T,\N,\N,8/47,Benign,\N,intron_variant,0.075,0.034,1KG_AFR_AF,COL4A4
470867,2:227977023:C>T,NM_000092.4:c.559-594G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.634,0.001,1KG_EAS_AF,COL4A4
470868,2:227977024:A>G,NM_000092.4:c.559-595T>C,\N,\N,8/47,Benign,\N,intron_variant,0.159,0.9781,1KG_AFR_AF,COL4A4
470869,2:227977037:T>G,NM_000092.4:c.559-608A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.326,\N,\N,COL4A4
470870,2:227977073:C>T,NM_000092.4:c.559-644G>A,\N,\N,8/47,Benign,\N,intron_variant,0.178,0.0219,1KG_EUR_AF,COL4A4
470871,2:227977127:G>T,NM_000092.4:c.559-698C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.947,0.001,1KG_EAS_AF,COL4A4
470872,2:227977134:G>A,NM_000092.4:c.559-705C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.232,\N,\N,COL4A4
470873,2:227977177:G>T,NM_000092.4:c.559-748C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.479,\N,\N,COL4A4
470874,2:227977185:A>G,NM_000092.4:c.559-756T>C,\N,\N,8/47,Benign,\N,intron_variant,6.734,0.0492,1KG_AFR_AF,COL4A4
470875,2:227977201:T>G,NM_000092.4:c.559-772A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,7.327,\N,\N,COL4A4
470876,2:227977204:C>T,NM_000092.4:c.559-775G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,5.245,\N,\N,COL4A4
470877,2:227977231:C>T,NM_000092.4:c.559-802G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.442,0.002,1KG_EAS_AF,COL4A4
470878,2:227977264:C>T,NM_000092.4:c.559-835G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.376,0.0029,1KG_AMR_AF,COL4A4
470879,2:227977265:G>A,NM_000092.4:c.559-836C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.111,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
470880,2:227977274:C>T,NM_000092.4:c.559-845G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.266,\N,\N,COL4A4
470881,2:227977276:C>A,NM_000092.4:c.559-847G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.136,0.001,1KG_SAS_AF,COL4A4
470882,2:227977276:C>G,NM_000092.4:c.559-847G>C,\N,\N,8/47,Unknown significance,\N,intron_variant,0.056,\N,\N,COL4A4
470883,2:227977287:T>C,NM_000092.4:c.559-858A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.963,\N,\N,COL4A4
470884,2:227977304:T>C,NM_000092.4:c.559-875A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,4.456,\N,\N,COL4A4
470885,2:227977311:G>C,NM_000092.4:c.559-882C>G,\N,\N,8/47,Benign,\N,intron_variant,0.161,0.0228,1KG_EAS_AF,COL4A4
470886,2:227977312:T>C,NM_000092.4:c.559-883A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,3.449,\N,\N,COL4A4
470887,2:227977324:T>G,NM_000092.4:c.559-895A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.457,0.001,1KG_EUR_AF,COL4A4
470888,2:227977337:G>T,NM_000092.4:c.559-908C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.135,0.001,1KG_EAS_AF,COL4A4
470889,2:227977345:T>C,NM_000092.4:c.559-916A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.12,\N,\N,COL4A4
470890,2:227977397:T>A,NM_000092.4:c.559-968A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.778,\N,\N,COL4A4
470891,2:227977408:G>A,NM_000092.4:c.559-979C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.228,\N,\N,COL4A4
470892,2:227977419:G>A,NM_000092.4:c.559-990C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.768,\N,\N,COL4A4
470893,2:227977437:C>T,NM_000092.4:c.559-1008G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,4.104,\N,\N,COL4A4
470894,2:227977440:C>T,NM_000092.4:c.559-1011G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.7,0.002,1KG_EAS_AF,COL4A4
470895,2:227977476:T>G,NM_000092.4:c.559-1047A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,9.277,\N,\N,COL4A4
470896,2:227977507:T>C,NM_000092.4:c.559-1078A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,3.635,0.0038,1KG_AFR_AF,COL4A4
470897,2:227977510:T>C,NM_000092.4:c.559-1081A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.462,\N,\N,COL4A4
470898,2:227977516:T>A,NM_000092.4:c.559-1087A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.658,\N,\N,COL4A4
470899,2:227977517:A>G,NM_000092.4:c.559-1088T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.478,\N,\N,COL4A4
470900,2:227977522:A>C,NM_000092.4:c.559-1093T>G,\N,\N,8/47,Benign,\N,intron_variant,0.307,0.5915,1KG_EUR_AF,COL4A4
470901,2:227977536:T>C,NM_000092.4:c.559-1107A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.17,\N,\N,COL4A4
470902,2:227977633:G>A,NM_000092.4:c.559-1204C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.907,\N,\N,COL4A4
470903,2:227977672:T>G,NM_000092.4:c.559-1243A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.671,\N,\N,COL4A4
470904,2:227977677:C>CT,NM_000092.4:c.559-1249dup,\N,\N,8/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470905,2:227977677:CT>C,NM_000092.4:c.559-1249del,\N,\N,8/47,Benign,\N,intron_variant,1.18,0.0356,1KG_AFR_AF,COL4A4
470906,2:227977699:C>T,NM_000092.4:c.559-1270G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.795,\N,\N,COL4A4
470907,2:227977716:T>G,NM_000092.4:c.559-1287A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.873,\N,\N,COL4A4
470908,2:227977780:G>A,NM_000092.4:c.559-1351C>T,\N,\N,8/47,Benign,\N,intron_variant,0.368,0.1415,1KG_AFR_AF,COL4A4
470909,2:227977800:G>A,NM_000092.4:c.559-1371C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.429,0.0014,1KG_AMR_AF,COL4A4
470910,2:227977803:T>C,NM_000092.4:c.559-1374A>G,\N,\N,8/47,Benign,\N,intron_variant,2.136,0.0182,1KG_AFR_AF,COL4A4
470911,2:227977857:T>C,NM_000092.4:c.559-1428A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.641,0.001,1KG_EUR_AF,COL4A4
470912,2:227977869:G>C,NM_000092.4:c.559-1440C>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.191,\N,\N,COL4A4
470913,2:227977893:C>A,NM_000092.4:c.558+1451G>T,\N,\N,8/47,Benign,\N,intron_variant,0.933,0.9758,1KG_AFR_AF,COL4A4
470914,2:227977899:G>A,NM_000092.4:c.558+1445C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.544,\N,\N,COL4A4
470915,2:227977901:A>G,NM_000092.4:c.558+1443T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,0.825,\N,\N,COL4A4
470916,2:227977902:T>C,NM_000092.4:c.558+1442A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.222,\N,\N,COL4A4
470917,2:227977906:G>C,NM_000092.4:c.558+1438C>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.313,0.001,1KG_EUR_AF,COL4A4
470918,2:227977946:G>GTT,NM_000092.4:c.558+1396_558+1397dup,\N,\N,8/47,Benign,\N,intron_variant,0.95,0.0166,1KG_AFR_AF,COL4A4
470919,2:227977946:GT>G,NM_000092.4:c.558+1397del,\N,\N,8/47,Benign,\N,intron_variant,5.348,0.0144,1KG_AFR_AF,COL4A4
470920,2:227977964:A>C,NM_000092.4:c.558+1380T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.471,\N,\N,COL4A4
470921,2:227977972:G>T,NM_000092.4:c.558+1372C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.242,0.0014,1KG_AMR_AF,COL4A4
470922,2:227977977:T>A,NM_000092.4:c.558+1367A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.853,\N,\N,COL4A4
470923,2:227978000:A>G,NM_000092.4:c.558+1344T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,0.984,0.002,1KG_SAS_AF,COL4A4
470924,2:227978007:T>G,NM_000092.4:c.558+1337A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.123,\N,\N,COL4A4
470925,2:227978017:G>A,NM_000092.4:c.558+1327C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.518,\N,\N,COL4A4
470926,2:227978032:G>A,NM_000092.4:c.558+1312C>T,\N,\N,8/47,Benign,\N,intron_variant,1.829,0.5905,1KG_EUR_AF,COL4A4
470927,2:227978032:G>T,NM_000092.4:c.558+1312C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.337,\N,\N,COL4A4
470928,2:227978049:T>A,NM_000092.4:c.558+1295A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,6.313,0.001,1KG_SAS_AF,COL4A4
470929,2:227978050:C>T,NM_000092.4:c.558+1294G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,4.313,0.003,1KG_EUR_AF,COL4A4
470930,2:227978053:C>A,NM_000092.4:c.558+1291G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.484,0.001,1KG_EAS_AF,COL4A4
470931,2:227978062:C>T,NM_000092.4:c.558+1282G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.478,\N,\N,COL4A4
470932,2:227978063:T>G,NM_000092.4:c.558+1281A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.546,0.0008,1KG_AFR_AF,COL4A4
470933,2:227978090:C>CTG,NM_000092.4:c.558+1253_558+1254insCA,\N,\N,8/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
470934,2:227978091:C>T,NM_000092.4:c.558+1253G>A,\N,\N,8/47,Benign,\N,intron_variant,1.345,0.264,1KG_AFR_AF,COL4A4
470935,2:227978091:CC>TG,NM_000092.4:c.558+1252_558+1253delinsCA,\N,\N,8/47,Unknown significance,\N,intron_variant,1.25,\N,\N,COL4A4
470936,2:227978092:C>G,NM_000092.4:c.558+1252G>C,\N,\N,8/47,Benign,\N,intron_variant,0.421,0.264,1KG_AFR_AF,COL4A4
470937,2:227978112:A>C,NM_000092.4:c.558+1232T>G,\N,\N,8/47,Benign,\N,intron_variant,0.976,0.0091,1KG_AFR_AF,COL4A4
470938,2:227978123:A>G,NM_000092.4:c.558+1221T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,0.836,\N,\N,COL4A4
470939,2:227978127:C>T,NM_000092.4:c.558+1217G>A,\N,\N,8/47,Benign,\N,intron_variant,2.468,0.1316,1KG_AFR_AF,COL4A4
470940,2:227978149:AC>A,NM_000092.4:c.558+1194del,\N,\N,8/47,Unknown significance,\N,intron_variant,1.137,0.0041,1KG_SAS_AF,COL4A4
470941,2:227978160:T>C,NM_000092.4:c.558+1184A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.875,\N,\N,COL4A4
470942,2:227978259:T>A,NM_000092.4:c.558+1085A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.491,0.0014,1KG_AMR_AF,COL4A4
470943,2:227978263:C>T,NM_000092.4:c.558+1081G>A,\N,\N,8/47,Benign,\N,intron_variant,1.318,0.1316,1KG_AFR_AF,COL4A4
470944,2:227978270:C>T,NM_000092.4:c.558+1074G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.118,0.001,1KG_SAS_AF,COL4A4
470945,2:227978284:A>T,NM_000092.4:c.558+1060T>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.556,\N,\N,COL4A4
470946,2:227978298:G>GT,NM_000092.4:c.558+1045dup,\N,\N,8/47,Benign,\N,intron_variant,0.888,0.1316,1KG_AFR_AF,COL4A4
470947,2:227978309:T>A,NM_000092.4:c.558+1035A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,7.053,\N,\N,COL4A4
470948,2:227978314:G>T,NM_000092.4:c.558+1030C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,3.514,\N,\N,COL4A4
470949,2:227978348:C>T,NM_000092.4:c.558+996G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.398,0.0008,1KG_AFR_AF,COL4A4
470950,2:227978354:C>A,NM_000092.4:c.558+990G>T,\N,\N,8/47,Benign,\N,intron_variant,4.296,0.1316,1KG_AFR_AF,COL4A4
470951,2:227978365:G>A,NM_000092.4:c.558+979C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.759,0.0014,1KG_AMR_AF,COL4A4
470952,2:227978368:T>C,NM_000092.4:c.558+976A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.655,\N,\N,COL4A4
470953,2:227978383:C>T,NM_000092.4:c.558+961G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.382,0.001,1KG_SAS_AF,COL4A4
470954,2:227978384:G>A,NM_000092.4:c.558+960C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.361,\N,\N,COL4A4
470955,2:227978427:C>T,NM_000092.4:c.558+917G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.626,\N,\N,COL4A4
470956,2:227978428:G>A,NM_000092.4:c.558+916C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.483,0.0014,1KG_AMR_AF,COL4A4
470957,2:227978448:A>G,NM_000092.4:c.558+896T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.352,\N,\N,COL4A4
470958,2:227978470:C>A,NM_000092.4:c.558+874G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.039,\N,\N,COL4A4
470959,2:227978478:C>T,NM_000092.4:c.558+866G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.08,0.002,1KG_SAS_AF,COL4A4
470960,2:227978479:A>G,NM_000092.4:c.558+865T>C,\N,\N,8/47,Benign,\N,intron_variant,0.33,0.6262,1KG_EUR_AF,COL4A4
470961,2:227978509:G>A,NM_000092.4:c.558+835C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.456,0.0015,1KG_AFR_AF,COL4A4
470962,2:227978524:G>A,NM_000092.4:c.558+820C>T,\N,\N,8/47,Benign,\N,intron_variant,2.329,0.006,1KG_EUR_AF,COL4A4
470963,2:227978529:A>G,NM_000092.4:c.558+815T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.732,\N,\N,COL4A4
470964,2:227978588:T>C,NM_000092.4:c.558+756A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,5.549,0.001,1KG_SAS_AF,COL4A4
470965,2:227978624:C>A,NM_000092.4:c.558+720G>T,\N,\N,8/47,Benign,\N,intron_variant,7.759,0.1316,1KG_AFR_AF,COL4A4
470966,2:227978632:G>T,NM_000092.4:c.558+712C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.921,\N,\N,COL4A4
470967,2:227978647:T>A,NM_000092.4:c.558+697A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,1.366,\N,\N,COL4A4
470968,2:227978680:A>G,NM_000092.4:c.558+664T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,3.507,0.001,1KG_SAS_AF,COL4A4
470969,2:227978748:C>A,NM_000092.4:c.558+596G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.981,0.0008,1KG_AFR_AF,COL4A4
470970,2:227978800:A>G,NM_000092.4:c.558+544T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.072,0.0008,1KG_AFR_AF,COL4A4
470971,2:227978826:G>A,NM_000092.4:c.558+518C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.769,\N,\N,COL4A4
470972,2:227978878:A>T,NM_000092.4:c.558+466T>A,\N,\N,8/47,Unknown significance,\N,intron_variant,12.64,0.001,1KG_SAS_AF,COL4A4
470973,2:227978900:G>A,NM_000092.4:c.558+444C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.773,0.0008,1KG_AFR_AF,COL4A4
470974,2:227978902:G>A,NM_000092.4:c.558+442C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,4.906,0.001,1KG_SAS_AF,COL4A4
470975,2:227978903:G>T,NM_000092.4:c.558+441C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.119,0.0008,1KG_AFR_AF,COL4A4
470976,2:227978907:T>C,NM_000092.4:c.558+437A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.563,0.0043,1KG_AMR_AF,COL4A4
470977,2:227978908:T>A,NM_000092.4:c.558+436A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.599,0.0014,1KG_AMR_AF,COL4A4
470978,2:227978910:C>A,NM_000092.4:c.558+434G>T,\N,\N,8/47,Unknown significance,\N,intron_variant,3.837,0.0008,1KG_AFR_AF,COL4A4
470979,2:227978928:G>A,NM_000092.4:c.558+416C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,2.219,0.0014,1KG_AMR_AF,COL4A4
470980,2:227978944:C>T,NM_000092.4:c.558+400G>A,\N,\N,8/47,Benign,\N,intron_variant,0.395,0.0072,1KG_SAS_AF,COL4A4
470981,2:227978981:G>A,NM_000092.4:c.558+363C>T,\N,\N,8/47,Benign,\N,intron_variant,1.094,0.0378,1KG_AFR_AF,COL4A4
470982,2:227978981:G>T,NM_000092.4:c.558+363C>A,\N,\N,8/47,Benign,\N,intron_variant,0.319,0.0061,1KG_SAS_AF,COL4A4
470983,2:227978983:C>T,NM_000092.4:c.558+361G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,4.368,\N,\N,COL4A4
470984,2:227979006:A>G,NM_000092.4:c.558+338T>C,\N,\N,8/47,Benign,\N,intron_variant,4.119,0.1316,1KG_AFR_AF,COL4A4
470985,2:227979012:T>G,NM_000092.4:c.558+332A>C,\N,\N,8/47,Benign,\N,intron_variant,5.059,0.1316,1KG_AFR_AF,COL4A4
470986,2:227979027:A>G,NM_000092.4:c.558+317T>C,\N,\N,8/47,Benign,\N,intron_variant,1.978,0.1316,1KG_AFR_AF,COL4A4
470987,2:227979048:C>CA,NM_000092.4:c.558+295dup,\N,\N,8/47,Benign,\N,intron_variant,5.463,0.2216,1KG_AFR_AF,COL4A4
470988,2:227979060:A>G,NM_000092.4:c.558+284T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,2.436,0.0014,1KG_AMR_AF,COL4A4
470989,2:227979063:T>G,NM_000092.4:c.558+281A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,4.363,0.0014,1KG_AMR_AF,COL4A4
470990,2:227979070:C>A,NM_000092.4:c.558+274G>T,\N,\N,8/47,Benign,\N,intron_variant,3.571,0.1316,1KG_AFR_AF,COL4A4
470991,2:227979132:A>C,NM_000092.4:c.558+212T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.733,\N,\N,COL4A4
470992,2:227979134:T>C,NM_000092.4:c.558+210A>G,\N,\N,8/47,Benign,\N,intron_variant,2.68,0.1316,1KG_AFR_AF,COL4A4
470993,2:227979168:G>T,NM_000092.4:c.558+176C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.137,0.0023,1KG_AFR_AF,COL4A4
470994,2:227979179:C>T,NM_000092.4:c.558+165G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.027,\N,\N,COL4A4
470995,2:227979220:G>T,NM_000092.4:c.558+124C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.199,\N,\N,COL4A4
470996,2:227979226:G>A,NM_000092.4:c.558+118C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.125,\N,\N,COL4A4
470997,2:227979226:G>T,NM_000092.4:c.558+118C>A,\N,\N,8/47,Benign,\N,intron_variant,0.028,0.1316,1KG_AFR_AF,COL4A4
470998,2:227979230:A>C,NM_000092.4:c.558+114T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,2.956,\N,\N,COL4A4
470999,2:227979236:G>T,NM_000092.4:c.558+108C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.78,0.0029,1KG_AMR_AF,COL4A4
471000,2:227979241:A>C,NM_000092.4:c.558+103T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.427,0.00031746,EXAC_SAS_AF,COL4A4
471001,2:227979245:A>C,NM_000092.4:c.558+99T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,1.635,0.0000164177,EXAC_NFE_AF,COL4A4
471002,2:227979248:G>A,NM_000092.4:c.558+96C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,3.586,0.00101364,EXAC_AMR_AF,COL4A4
471003,2:227979261:A>G,NM_000092.4:c.558+83T>C,\N,\N,8/47,Benign,\N,intron_variant,2.436,0.0983895,EXAC_EAS_AF,COL4A4
471004,2:227979264:A>T,NM_000092.4:c.558+80T>A,\N,\N,8/47,Unknown significance,\N,intron_variant,0.087,0.0000481742,EXAC_NFE_AF,COL4A4
471005,2:227979267:C>G,NM_000092.4:c.558+77G>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.192,0.000313126,EXAC_SAS_AF,COL4A4
471006,2:227979267:C>T,NM_000092.4:c.558+77G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.277,0.000125251,EXAC_SAS_AF,COL4A4
471007,2:227979271:C>A,NM_000092.4:c.558+73G>T,\N,\N,8/47,Benign,\N,intron_variant,5.327,0.0105113,EXAC_AMR_AF,COL4A4
471008,2:227979271:CTGAG>C,NM_000092.4:c.558+69_558+72del,\N,\N,8/47,Unknown significance,\N,intron_variant,3.664,0.0000158469,EXAC_NFE_AF,COL4A4
471009,2:227979275:G>T,NM_000092.4:c.558+69C>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.04,0.0000618506,EXAC_SAS_AF,COL4A4
471010,2:227979288:G>A,NM_000092.4:c.558+56C>T,\N,\N,8/47,Unknown significance,\N,intron_variant,0.967,0.0000152793,EXAC_NFE_AF,COL4A4
471011,2:227979291:C>T,NM_000092.4:c.558+53G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.856,0.0011236,EXAC_OTH_AF,COL4A4
471012,2:227979295:C>T,NM_000092.4:c.558+49G>A,\N,\N,8/47,Unknown significance,\N,intron_variant,2.456,0.000173943,EXAC_AMR_AF,COL4A4
471013,2:227979297:T>A,NM_000092.4:c.558+47A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,3.725,0.0000151295,EXAC_NFE_AF,COL4A4
471014,2:227979299:T>C,NM_000092.4:c.558+45A>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.607,0.000273224,EVS_AA_AF,COL4A4
471015,2:227979307:A>G,NM_000092.4:c.558+37T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.576,0.001,1KG_EAS_AF,COL4A4
471016,2:227979311:A>C,NM_000092.4:c.558+33T>G,\N,\N,8/47,Unknown significance,\N,intron_variant,0.796,0.0000150263,EXAC_NFE_AF,COL4A4
471017,2:227979311:A>T,NM_000092.4:c.558+33T>A,\N,\N,8/47,Unknown significance,\N,intron_variant,1.187,0.0008,1KG_AFR_AF,COL4A4
471018,2:227979313:T>A,NM_000092.4:c.558+31A>T,\N,\N,8/47,Unknown significance,\N,intron_variant,5.391,0.0035802,EXAC_AFR_AF,COL4A4
471019,2:227979314:T>G,NM_000092.4:c.558+30A>C,\N,\N,8/47,Unknown significance,\N,intron_variant,1.884,0.0000600853,EXAC_NFE_AF,COL4A4
471020,2:227979333:A>G,NM_000092.4:c.558+11T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,7.388,0.000245519,EVS_EA_AF,COL4A4
471021,2:227979335:A>G,NM_000092.4:c.558+9T>C,\N,\N,8/47,Unknown significance,\N,intron_variant,7.996,0.00012276,EVS_EA_AF,COL4A4
471022,2:227979342:A>G,NM_000092.4:c.558+2T>C,\N,\N,8/47,Unknown significance,\N,splice_donor_variant,25.1,0.000116225,EXAC_EAS_AF,COL4A4
471023,2:227979350:AC>A,NM_000092.4:c.551del,NP_000083.3:p.Gly184ValfsTer35,8/48,\N,Unknown significance,\N,frameshift_variant,35,0.000116171,EXAC_EAS_AF,COL4A4
471024,2:227979350:A>G,NM_000092.4:c.552T>C,NP_000083.3:p.Gly184=,8/48,\N,Unknown significance,\N,synonymous_variant,6.291,0.0000149952,EXAC_NFE_AF,COL4A4
471025,2:227979358:C>T,NM_000092.4:c.544G>A,NP_000083.3:p.Val182Ile,8/48,\N,Likely benign,\N,missense_variant,13.58,0.0014,1KG_AMR_AF,COL4A4
471026,2:227979359:G>A,NM_000092.4:c.543C>T,NP_000083.3:p.Ala181=,8/48,\N,Unknown significance,\N,synonymous_variant,17.28,0.000204123,EXAC_AFR_AF,COL4A4
471027,2:227979361:C>A,NM_000092.4:c.541G>T,NP_000083.3:p.Ala181Ser,8/48,\N,Likely benign,\N,missense_variant,23.1,0.000629761,EXAC_NFE_AF,COL4A4
471028,2:227979363:C>T,NM_000092.4:c.539G>A,NP_000083.3:p.Gly180Asp,8/48,\N,Likely benign,\N,missense_variant,19.43,0.0000864155,EXAC_AMR_AF,COL4A4
471029,2:227979375:A>T,NM_000092.4:c.527T>A,NP_000083.3:p.Val176Glu,8/48,\N,Unknown significance,\N,missense_variant,24.1,0.0000149921,EXAC_NFE_AF,COL4A4
471030,2:227979376:C>T,NM_000092.4:c.526G>A,NP_000083.3:p.Val176Met,8/48,\N,Likely benign,\N,missense_variant,25,0.0000149921,EXAC_NFE_AF,COL4A4
471031,2:227979394:C>T,NM_000092.4:c.508G>A,NP_000083.3:p.Gly170Arg,8/48,\N,Pathogenic,Alport syndrome,missense_variant,34,\N,\N,COL4A4
471032,2:227979395:C>G,NM_000092.4:c.507G>C,NP_000083.3:p.Lys169Asn,8/48,\N,Benign,\N,missense_variant,10.34,0.0082,1KG_SAS_AF,COL4A4
471033,2:227979404:A>C,NM_000092.4:c.498T>G,NP_000083.3:p.Pro166=,8/48,\N,Unknown significance,\N,synonymous_variant,3.772,0.0000864304,EXAC_AMR_AF,COL4A4
471034,2:227979415:G>C,NM_000092.4:c.490-3C>G,\N,\N,7/47,Unknown significance,\N,splice_region_variant&intron_variant,13.27,\N,\N,COL4A4
471035,2:227979419:AT>A,NM_000092.4:c.490-8del,\N,\N,7/47,Unknown significance,\N,splice_region_variant&intron_variant,12.2,\N,\N,COL4A4
471036,2:227979438:A>T,NM_000092.4:c.490-26T>A,\N,\N,7/47,Unknown significance,\N,intron_variant,3.331,0.0000150299,EXAC_NFE_AF,COL4A4
471037,2:227979448:T>C,NM_000092.4:c.490-36A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.011,0.000692083,EXAC_NFE_AF,COL4A4
471038,2:227979451:C>A,NM_000092.4:c.490-39G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,2.903,0.00115235,EXAC_SAS_AF,COL4A4
471039,2:227979452:A>G,NM_000092.4:c.490-40T>C,\N,\N,7/47,Benign,\N,intron_variant,0.922,0.3616,1KG_AFR_AF,COL4A4
471040,2:227979453:T>C,NM_000092.4:c.490-41A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.65,0.0000150657,EXAC_NFE_AF,COL4A4
471041,2:227979484:A>T,NM_000092.4:c.490-72T>A,\N,\N,7/47,Benign,\N,intron_variant,0.438,0.0328,1KG_EUR_AF,COL4A4
471042,2:227979489:A>G,NM_000092.4:c.490-77T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.421,0.001,1KG_SAS_AF,COL4A4
471043,2:227979499:A>G,NM_000092.4:c.490-87T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.771,0.001,1KG_EUR_AF,COL4A4
471044,2:227979533:A>C,NM_000092.4:c.490-121T>G,\N,\N,7/47,Benign,\N,intron_variant,0.176,0.7937,1KG_EAS_AF,COL4A4
471045,2:227979587:A>G,NM_000092.4:c.490-175T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.872,0.0008,1KG_AFR_AF,COL4A4
471046,2:227979592:CT>C,NM_000092.4:c.490-181del,\N,\N,7/47,Unknown significance,\N,intron_variant,3.289,0.004,1KG_EAS_AF,COL4A4
471047,2:227979594:C>T,NM_000092.4:c.490-182G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,3.082,\N,\N,COL4A4
471048,2:227979687:A>C,NM_000092.4:c.490-275T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.345,0.001,1KG_SAS_AF,COL4A4
471049,2:227979701:C>G,NM_000092.4:c.490-289G>C,\N,\N,7/47,Benign,\N,intron_variant,1.11,0.0182,1KG_AFR_AF,COL4A4
471050,2:227979705:G>T,NM_000092.4:c.490-293C>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.074,\N,\N,COL4A4
471051,2:227979737:A>G,NM_000092.4:c.490-325T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,4.808,0.001,1KG_EAS_AF,COL4A4
471052,2:227979745:C>G,NM_000092.4:c.490-333G>C,\N,\N,7/47,Benign,\N,intron_variant,1.341,0.093,1KG_AFR_AF,COL4A4
471053,2:227979762:GTATA>G,NM_000092.4:c.490-354_490-351del,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,COL4A4
471054,2:227979773:T>G,NM_000092.4:c.490-361A>C,\N,\N,7/47,Benign,\N,intron_variant,1.541,0.0159,1KG_AMR_AF,COL4A4
471055,2:227979773:T>TATAG,NM_000092.4:c.490-365_490-362dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471056,2:227979775:T>G,NM_000092.4:c.490-363A>C,\N,\N,7/47,Benign,\N,intron_variant,1.799,0.746,1KG_EAS_AF,COL4A4
471057,2:227979777:G>T,NM_000092.4:c.490-365C>A,\N,\N,7/47,Benign,\N,intron_variant,0.006,0.0938,1KG_AFR_AF,COL4A4
471058,2:227979824:A>G,NM_000092.4:c.490-412T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.958,0.001,1KG_EUR_AF,COL4A4
471059,2:227979842:C>T,NM_000092.4:c.490-430G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.31,\N,\N,COL4A4
471060,2:227979875:T>C,NM_000092.4:c.490-463A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.042,\N,\N,COL4A4
471061,2:227979889:C>A,NM_000092.4:c.490-477G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.759,0.001,1KG_EAS_AF,COL4A4
471062,2:227979921:C>G,NM_000092.4:c.490-509G>C,\N,\N,7/47,Benign,\N,intron_variant,1.017,0.1309,1KG_AFR_AF,COL4A4
471063,2:227979980:T>C,NM_000092.4:c.490-568A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.076,\N,\N,COL4A4
471064,2:227980000:T>C,NM_000092.4:c.490-588A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.838,0.001,1KG_SAS_AF,COL4A4
471065,2:227980002:T>G,NM_000092.4:c.490-590A>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.262,\N,\N,COL4A4
471066,2:227980027:A>C,NM_000092.4:c.490-615T>G,\N,\N,7/47,Benign,\N,intron_variant,1.712,0.1278,1KG_AFR_AF,COL4A4
471067,2:227980047:C>T,NM_000092.4:c.490-635G>A,\N,\N,7/47,Benign,\N,intron_variant,0.499,0.0968,1KG_AFR_AF,COL4A4
471068,2:227980049:C>T,NM_000092.4:c.490-637G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.032,\N,\N,COL4A4
471069,2:227980072:T>C,NM_000092.4:c.490-660A>G,\N,\N,7/47,Benign,\N,intron_variant,0.029,0.1309,1KG_AFR_AF,COL4A4
471070,2:227980079:C>T,NM_000092.4:c.490-667G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.341,\N,\N,COL4A4
471071,2:227980133:C>T,NM_000092.4:c.490-721G>A,\N,\N,7/47,Benign,\N,intron_variant,0.205,0.0159,1KG_AFR_AF,COL4A4
471072,2:227980136:A>G,NM_000092.4:c.490-724T>C,\N,\N,7/47,Benign,\N,intron_variant,2.242,0.1188,1KG_AFR_AF,COL4A4
471073,2:227980142:G>A,NM_000092.4:c.490-730C>T,\N,\N,7/47,Benign,\N,intron_variant,0.176,0.1188,1KG_AFR_AF,COL4A4
471074,2:227980153:A>AT,NM_000092.4:c.490-742dup,\N,\N,7/47,Unknown significance,\N,intron_variant,0.306,\N,\N,COL4A4
471075,2:227980172:T>C,NM_000092.4:c.490-760A>G,\N,\N,7/47,Benign,\N,intron_variant,0.219,0.1309,1KG_AFR_AF,COL4A4
471076,2:227980175:A>G,NM_000092.4:c.490-763T>C,\N,\N,7/47,Benign,\N,intron_variant,0.949,0.0051,1KG_SAS_AF,COL4A4
471077,2:227980177:A>G,NM_000092.4:c.490-765T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,0.309,0.001,1KG_SAS_AF,COL4A4
471078,2:227980179:G>A,NM_000092.4:c.490-767C>T,\N,\N,7/47,Benign,\N,intron_variant,1.641,0.0139,1KG_EAS_AF,COL4A4
471079,2:227980190:A>G,NM_000092.4:c.490-778T>C,\N,\N,7/47,Benign,\N,intron_variant,0.167,0.1301,1KG_AFR_AF,COL4A4
471080,2:227980224:G>A,NM_000092.4:c.490-812C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.46,\N,\N,COL4A4
471081,2:227980234:C>T,NM_000092.4:c.490-822G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.8,\N,\N,COL4A4
471082,2:227980235:G>A,NM_000092.4:c.490-823C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.669,0.0008,1KG_AFR_AF,COL4A4
471083,2:227980239:C>T,NM_000092.4:c.490-827G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,2.048,0.001,1KG_EAS_AF,COL4A4
471084,2:227980254:C>T,NM_000092.4:c.490-842G>A,\N,\N,7/47,Benign,\N,intron_variant,2.807,0.0915,1KG_AFR_AF,COL4A4
471085,2:227980268:A>G,NM_000092.4:c.490-856T>C,\N,\N,7/47,Benign,\N,intron_variant,1.224,0.1293,1KG_AFR_AF,COL4A4
471086,2:227980277:T>C,NM_000092.4:c.490-865A>G,\N,\N,7/47,Benign,\N,intron_variant,0.545,0.1293,1KG_AFR_AF,COL4A4
471087,2:227980287:C>G,NM_000092.4:c.490-875G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,0.57,0.0014,1KG_AMR_AF,COL4A4
471088,2:227980306:A>AT,NM_000092.4:c.490-895dup,\N,\N,7/47,Benign,\N,intron_variant,0.563,0.1309,1KG_AFR_AF,COL4A4
471089,2:227980315:C>A,NM_000092.4:c.490-903G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,9.226,\N,\N,COL4A4
471090,2:227980391:C>G,NM_000092.4:c.490-979G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,0.865,\N,\N,COL4A4
471091,2:227980395:C>G,NM_000092.4:c.490-983G>C,\N,\N,7/47,Benign,\N,intron_variant,1.048,0.1309,1KG_AFR_AF,COL4A4
471092,2:227980446:G>A,NM_000092.4:c.490-1034C>T,\N,\N,7/47,Benign,\N,intron_variant,2.376,0.007,1KG_EUR_AF,COL4A4
471093,2:227980486:G>A,NM_000092.4:c.490-1074C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,3.081,0.001,1KG_SAS_AF,COL4A4
471094,2:227980496:G>A,NM_000092.4:c.490-1084C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,2.766,0.001,1KG_EAS_AF,COL4A4
471095,2:227980519:C>T,NM_000092.4:c.490-1107G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,3.523,0.001,1KG_EAS_AF,COL4A4
471096,2:227980556:T>C,NM_000092.4:c.490-1144A>G,\N,\N,7/47,Benign,\N,intron_variant,0.607,0.1309,1KG_AFR_AF,COL4A4
471097,2:227980606:T>TTAAC,NM_000092.4:c.490-1195_490-1194insGTTA,\N,\N,7/47,Benign,\N,intron_variant,1.008,0.1309,1KG_AFR_AF,COL4A4
471098,2:227980616:G>A,NM_000092.4:c.490-1204C>T,\N,\N,7/47,Benign,\N,intron_variant,1.548,0.1309,1KG_AFR_AF,COL4A4
471099,2:227980618:A>G,NM_000092.4:c.490-1206T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.956,\N,\N,COL4A4
471100,2:227980653:A>AT,NM_000092.4:c.490-1242_490-1241insA,\N,\N,7/47,Benign,\N,intron_variant,2.024,0.0083,1KG_AFR_AF,COL4A4
471101,2:227980659:C>T,NM_000092.4:c.490-1247G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.773,\N,\N,COL4A4
471102,2:227980679:T>C,NM_000092.4:c.490-1267A>G,\N,\N,7/47,Benign,\N,intron_variant,0.312,0.1301,1KG_AFR_AF,COL4A4
471103,2:227980703:C>T,NM_000092.4:c.490-1291G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.291,0.002,1KG_EUR_AF,COL4A4
471104,2:227980720:A>T,NM_000092.4:c.490-1308T>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.172,0.0008,1KG_AFR_AF,COL4A4
471105,2:227980738:A>G,NM_000092.4:c.490-1326T>C,\N,\N,7/47,Benign,\N,intron_variant,0.79,0.177,1KG_AFR_AF,COL4A4
471106,2:227980747:A>C,NM_000092.4:c.490-1335T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.531,0.001,1KG_EAS_AF,COL4A4
471107,2:227980765:G>A,NM_000092.4:c.490-1353C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.534,0.0008,1KG_AFR_AF,COL4A4
471108,2:227980780:T>C,NM_000092.4:c.490-1368A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,3.229,0.0008,1KG_AFR_AF,COL4A4
471109,2:227980781:A>T,NM_000092.4:c.490-1369T>A,\N,\N,7/47,Benign,\N,intron_variant,1.96,0.1309,1KG_AFR_AF,COL4A4
471110,2:227980791:G>C,NM_000092.4:c.490-1379C>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.684,\N,\N,COL4A4
471111,2:227980799:G>T,NM_000092.4:c.490-1387C>A,\N,\N,7/47,Benign,\N,intron_variant,0.591,0.0492,1KG_AFR_AF,COL4A4
471112,2:227980800:T>A,NM_000092.4:c.490-1388A>T,\N,\N,7/47,Benign,\N,intron_variant,4.59,0.1309,1KG_AFR_AF,COL4A4
471113,2:227980820:C>G,NM_000092.4:c.490-1408G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.252,0.0014,1KG_AMR_AF,COL4A4
471114,2:227980835:ACT>A,NM_000092.4:c.490-1425_490-1424del,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471115,2:227980845:G>A,NM_000092.4:c.490-1433C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.474,0.0008,1KG_AFR_AF,COL4A4
471116,2:227980850:T>A,NM_000092.4:c.490-1438A>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.17,0.002,1KG_EUR_AF,COL4A4
471117,2:227980863:A>G,NM_000092.4:c.490-1451T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.6,0.0008,1KG_AFR_AF,COL4A4
471118,2:227980866:AAACGT>A,NM_000092.4:c.490-1459_490-1455del,\N,\N,7/47,Benign,\N,intron_variant,1.666,0.1218,1KG_AFR_AF,COL4A4
471119,2:227980869:C>T,NM_000092.4:c.490-1457G>A,\N,\N,7/47,Benign,\N,intron_variant,1.22,0.1914,1KG_AFR_AF,COL4A4
471120,2:227980870:G>A,NM_000092.4:c.490-1458C>T,\N,\N,7/47,Benign,\N,intron_variant,1.262,0.0477,1KG_AFR_AF,COL4A4
471121,2:227980878:G>A,NM_000092.4:c.490-1466C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.68,0.0029,1KG_AMR_AF,COL4A4
471122,2:227980880:A>G,NM_000092.4:c.490-1468T>C,\N,\N,7/47,Benign,\N,intron_variant,0.067,0.1309,1KG_AFR_AF,COL4A4
471123,2:227980946:T>C,NM_000092.4:c.490-1534A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,9.487,0.001,1KG_SAS_AF,COL4A4
471124,2:227980947:G>GAT,NM_000092.4:c.490-1537_490-1536dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471125,2:227980956:T>A,NM_000092.4:c.490-1544A>T,\N,\N,7/47,Benign,\N,intron_variant,12.11,0.1362,1KG_AFR_AF,COL4A4
471126,2:227980978:T>C,NM_000092.4:c.490-1566A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,2.543,0.001,1KG_EAS_AF,COL4A4
471127,2:227980989:G>A,NM_000092.4:c.490-1577C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.145,\N,\N,COL4A4
471128,2:227981025:A>C,NM_000092.4:c.490-1613T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,3.447,0.001,1KG_EAS_AF,COL4A4
471129,2:227981027:A>G,NM_000092.4:c.490-1615T>C,\N,\N,7/47,Benign,\N,intron_variant,0.796,0.1899,1KG_AFR_AF,COL4A4
471130,2:227981027:ATA>GTC,NM_000092.4:c.490-1617_490-1615delinsGAC,\N,\N,7/47,Unknown significance,\N,intron_variant,1.85,\N,\N,COL4A4
471131,2:227981029:A>C,NM_000092.4:c.490-1617T>G,\N,\N,7/47,Benign,\N,intron_variant,2.326,0.1899,1KG_AFR_AF,COL4A4
471132,2:227981074:C>T,NM_000092.4:c.490-1662G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,5.122,\N,\N,COL4A4
471133,2:227981081:C>G,NM_000092.4:c.490-1669G>C,\N,\N,7/47,Benign,\N,intron_variant,1.988,0.1301,1KG_AFR_AF,COL4A4
471134,2:227981097:G>T,NM_000092.4:c.490-1685C>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.749,\N,\N,COL4A4
471135,2:227981110:T>C,NM_000092.4:c.490-1698A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.909,\N,\N,COL4A4
471136,2:227981136:T>C,NM_000092.4:c.490-1724A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.717,\N,\N,COL4A4
471137,2:227981137:T>C,NM_000092.4:c.490-1725A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.988,\N,\N,COL4A4
471138,2:227981150:C>T,NM_000092.4:c.490-1738G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.514,\N,\N,COL4A4
471139,2:227981151:G>A,NM_000092.4:c.490-1739C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.198,0.0015,1KG_AFR_AF,COL4A4
471140,2:227981163:G>A,NM_000092.4:c.490-1751C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.612,0.0008,1KG_AFR_AF,COL4A4
471141,2:227981187:A>C,NM_000092.4:c.490-1775T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.086,\N,\N,COL4A4
471142,2:227981238:A>AT,NM_000092.4:c.490-1827dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471143,2:227981244:C>CA,NM_000092.4:c.490-1833dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471144,2:227981271:C>T,NM_000092.4:c.490-1859G>A,\N,\N,7/47,Benign,\N,intron_variant,0.438,0.1339,1KG_AFR_AF,COL4A4
471145,2:227981272:G>A,NM_000092.4:c.490-1860C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.88,\N,\N,COL4A4
471146,2:227981294:G>A,NM_000092.4:c.490-1882C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,12.63,0.001,1KG_EUR_AF,COL4A4
471147,2:227981301:A>T,NM_000092.4:c.490-1889T>A,\N,\N,7/47,Benign,\N,intron_variant,11.96,0.1293,1KG_AFR_AF,COL4A4
471148,2:227981332:A>T,NM_000092.4:c.490-1920T>A,\N,\N,7/47,Unknown significance,\N,intron_variant,4.592,0.0008,1KG_AFR_AF,COL4A4
471149,2:227981382:T>C,NM_000092.4:c.490-1970A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.206,0.001,1KG_EUR_AF,COL4A4
471150,2:227981415:C>T,NM_000092.4:c.489+1946G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,4.715,\N,\N,COL4A4
471151,2:227981455:G>A,NM_000092.4:c.489+1906C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.185,0.0008,1KG_AFR_AF,COL4A4
471152,2:227981464:G>A,NM_000092.4:c.489+1897C>T,\N,\N,7/47,Benign,\N,intron_variant,8.006,0.0144,1KG_AFR_AF,COL4A4
471153,2:227981482:A>G,NM_000092.4:c.489+1879T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.175,\N,\N,COL4A4
471154,2:227981494:A>T,NM_000092.4:c.489+1867T>A,\N,\N,7/47,Benign,\N,intron_variant,0.392,0.1293,1KG_AFR_AF,COL4A4
471155,2:227981505:A>G,NM_000092.4:c.489+1856T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.291,\N,\N,COL4A4
471156,2:227981517:C>A,NM_000092.4:c.489+1844G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.606,0.004,1KG_EAS_AF,COL4A4
471157,2:227981517:C>G,NM_000092.4:c.489+1844G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,0.597,0.002,1KG_EUR_AF,COL4A4
471158,2:227981518:C>G,NM_000092.4:c.489+1843G>C,\N,\N,7/47,Benign,\N,intron_variant,2.161,0.1293,1KG_AFR_AF,COL4A4
471159,2:227981520:TGA>T,NM_000092.4:c.489+1839_489+1840del,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471160,2:227981525:G>A,NM_000092.4:c.489+1836C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.265,0.0008,1KG_AFR_AF,COL4A4
471161,2:227981526:A>G,NM_000092.4:c.489+1835T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.779,\N,\N,COL4A4
471162,2:227981552:C>T,NM_000092.4:c.489+1809G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.94,0.0008,1KG_AFR_AF,COL4A4
471163,2:227981557:T>A,NM_000092.4:c.489+1804A>T,\N,\N,7/47,Unknown significance,\N,intron_variant,6.27,0.003,1KG_EAS_AF,COL4A4
471164,2:227981558:T>TAGAA,NM_000092.4:c.489+1802_489+1803insTTCT,\N,\N,7/47,Benign,\N,intron_variant,1.056,0.1301,1KG_AFR_AF,COL4A4
471165,2:227981594:A>T,NM_000092.4:c.489+1767T>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
471166,2:227981635:G>A,NM_000092.4:c.489+1726C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.279,\N,\N,COL4A4
471167,2:227981641:T>C,NM_000092.4:c.489+1720A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.65,0.001,1KG_SAS_AF,COL4A4
471168,2:227981655:G>C,NM_000092.4:c.489+1706C>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.264,0.0008,1KG_AFR_AF,COL4A4
471169,2:227981656:A>G,NM_000092.4:c.489+1705T>C,\N,\N,7/47,Benign,\N,intron_variant,1.756,0.0072,1KG_AMR_AF,COL4A4
471170,2:227981657:T>C,NM_000092.4:c.489+1704A>G,\N,\N,7/47,Benign,\N,intron_variant,1.425,0.0053,1KG_AFR_AF,COL4A4
471171,2:227981671:G>T,NM_000092.4:c.489+1690C>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.122,0.001,1KG_EAS_AF,COL4A4
471172,2:227981697:C>T,NM_000092.4:c.489+1664G>A,\N,\N,7/47,Benign,\N,intron_variant,2.633,0.1301,1KG_AFR_AF,COL4A4
471173,2:227981738:T>C,NM_000092.4:c.489+1623A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.655,\N,\N,COL4A4
471174,2:227981746:T>C,NM_000092.4:c.489+1615A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.518,\N,\N,COL4A4
471175,2:227981772:TAACAA>T,NM_000092.4:c.489+1584_489+1588del,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471176,2:227981816:T>C,NM_000092.4:c.489+1545A>G,\N,\N,7/47,Benign,\N,intron_variant,1.167,0.006,1KG_EAS_AF,COL4A4
471177,2:227981830:T>G,NM_000092.4:c.489+1531A>C,\N,\N,7/47,Unknown significance,\N,intron_variant,4.3,\N,\N,COL4A4
471178,2:227981837:C>T,NM_000092.4:c.489+1524G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.129,\N,\N,COL4A4
471179,2:227981838:G>A,NM_000092.4:c.489+1523C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.956,0.0023,1KG_AFR_AF,COL4A4
471180,2:227981904:T>C,NM_000092.4:c.489+1457A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.015,\N,\N,COL4A4
471181,2:227981972:C>G,NM_000092.4:c.489+1389G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.041,\N,\N,COL4A4
471182,2:227981993:A>C,NM_000092.4:c.489+1368T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.578,0.0014,1KG_AMR_AF,COL4A4
471183,2:227982120:G>A,NM_000092.4:c.489+1241C>T,\N,\N,7/47,Benign,\N,intron_variant,2.964,0.0053,1KG_AFR_AF,COL4A4
471184,2:227982189:G>A,NM_000092.4:c.489+1172C>T,\N,\N,7/47,Benign,\N,intron_variant,3.089,0.1301,1KG_AFR_AF,COL4A4
471185,2:227982214:T>C,NM_000092.4:c.489+1147A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.82,0.0008,1KG_AFR_AF,COL4A4
471186,2:227982254:G>A,NM_000092.4:c.489+1107C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,4.499,0.001,1KG_EUR_AF,COL4A4
471187,2:227982255:G>A,NM_000092.4:c.489+1106C>T,\N,\N,7/47,Benign,\N,intron_variant,3.644,0.1301,1KG_AFR_AF,COL4A4
471188,2:227982263:G>A,NM_000092.4:c.489+1098C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.621,\N,\N,COL4A4
471189,2:227982282:A>G,NM_000092.4:c.489+1079T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.828,\N,\N,COL4A4
471190,2:227982296:C>T,NM_000092.4:c.489+1065G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,2.229,0.003,1KG_AFR_AF,COL4A4
471191,2:227982314:T>C,NM_000092.4:c.489+1047A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,2.162,\N,\N,COL4A4
471192,2:227982321:A>G,NM_000092.4:c.489+1040T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.815,0.001,1KG_EAS_AF,COL4A4
471193,2:227982341:T>A,NM_000092.4:c.489+1020A>T,\N,\N,7/47,Benign,\N,intron_variant,1.127,0.1301,1KG_AFR_AF,COL4A4
471194,2:227982362:T>TA,NM_000092.4:c.489+998dup,\N,\N,7/47,Unknown significance,\N,intron_variant,1.468,\N,\N,COL4A4
471195,2:227982362:TA>T,NM_000092.4:c.489+998del,\N,\N,7/47,Unknown significance,\N,intron_variant,2.26,\N,\N,COL4A4
471196,2:227982386:A>G,NM_000092.4:c.489+975T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.393,0.001,1KG_EUR_AF,COL4A4
471197,2:227982399:G>T,NM_000092.4:c.489+962C>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.407,0.001,1KG_SAS_AF,COL4A4
471198,2:227982427:T>C,NM_000092.4:c.489+934A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,5.892,\N,\N,COL4A4
471199,2:227982456:G>C,NM_000092.4:c.489+905C>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.225,\N,\N,COL4A4
471200,2:227982456:G>GA,NM_000092.4:c.489+904dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471201,2:227982514:G>A,NM_000092.4:c.489+847C>T,\N,\N,7/47,Benign,\N,intron_variant,1.175,0.0072,1KG_AMR_AF,COL4A4
471202,2:227982514:GA>G,NM_000092.4:c.489+846del,\N,\N,7/47,Unknown significance,\N,intron_variant,0.08,\N,\N,COL4A4
471203,2:227982515:A>G,NM_000092.4:c.489+846T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,0.306,0.001,1KG_EAS_AF,COL4A4
471204,2:227982520:AAAAGCT>A,NM_000092.4:c.489+835_489+840del,\N,\N,7/47,Unknown significance,\N,intron_variant,0.876,\N,\N,COL4A4
471205,2:227982522:AAGCT>A,NM_000092.4:c.489+835_489+838del,\N,\N,7/47,Unknown significance,\N,intron_variant,1.109,\N,\N,COL4A4
471206,2:227982523:AGCT>A,NM_000092.4:c.489+835_489+837del,\N,\N,7/47,Unknown significance,\N,intron_variant,1.301,\N,\N,COL4A4
471207,2:227982525:C>CTAAGA,NM_000092.4:c.489+831_489+835dup,\N,\N,7/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471208,2:227982525:CTAAGA>C,NM_000092.4:c.489+831_489+835del,\N,\N,7/47,Unknown significance,\N,intron_variant,6.116,\N,\N,COL4A4
471209,2:227982530:A>C,NM_000092.4:c.489+831T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.171,0.0014,1KG_AMR_AF,COL4A4
471210,2:227982533:C>T,NM_000092.4:c.489+828G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.169,0.0015,1KG_AFR_AF,COL4A4
471211,2:227982534:G>A,NM_000092.4:c.489+827C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.344,0.001,1KG_EAS_AF,COL4A4
471212,2:227982553:C>A,NM_000092.4:c.489+808G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,3.669,0.0031,1KG_SAS_AF,COL4A4
471213,2:227982661:T>C,NM_000092.4:c.489+700A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.807,0.0008,1KG_AFR_AF,COL4A4
471214,2:227982712:G>A,NM_000092.4:c.489+649C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.229,\N,\N,COL4A4
471215,2:227982724:C>T,NM_000092.4:c.489+637G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.782,\N,\N,COL4A4
471216,2:227982775:T>C,NM_000092.4:c.489+586A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,2.429,0.001,1KG_EAS_AF,COL4A4
471217,2:227982793:C>T,NM_000092.4:c.489+568G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,0.735,0.0008,1KG_AFR_AF,COL4A4
471218,2:227982841:C>T,NM_000092.4:c.489+520G>A,\N,\N,7/47,Benign,\N,intron_variant,12.39,0.1301,1KG_AFR_AF,COL4A4
471219,2:227982842:G>A,NM_000092.4:c.489+519C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,11.84,0.0014,1KG_AMR_AF,COL4A4
471220,2:227982862:C>A,NM_000092.4:c.489+499G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,5.083,\N,\N,COL4A4
471221,2:227982882:G>A,NM_000092.4:c.489+479C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,0.769,0.003,1KG_EUR_AF,COL4A4
471222,2:227982905:C>G,NM_000092.4:c.489+456G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,1.068,0.0008,1KG_AFR_AF,COL4A4
471223,2:227982912:T>C,NM_000092.4:c.489+449A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.853,\N,\N,COL4A4
471224,2:227982913:T>C,NM_000092.4:c.489+448A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,2.841,0.0008,1KG_AFR_AF,COL4A4
471225,2:227982931:C>T,NM_000092.4:c.489+430G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,3.361,\N,\N,COL4A4
471226,2:227982938:G>T,NM_000092.4:c.489+423C>A,\N,\N,7/47,Benign,\N,intron_variant,1.866,0.1301,1KG_AFR_AF,COL4A4
471227,2:227983003:C>G,NM_000092.4:c.489+358G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.205,0.002,1KG_SAS_AF,COL4A4
471228,2:227983042:C>A,NM_000092.4:c.489+319G>T,\N,\N,7/47,Unknown significance,\N,intron_variant,3.783,0.0008,1KG_AFR_AF,COL4A4
471229,2:227983043:C>G,NM_000092.4:c.489+318G>C,\N,\N,7/47,Benign,\N,intron_variant,1.221,0.0328,1KG_EUR_AF,COL4A4
471230,2:227983047:C>T,NM_000092.4:c.489+314G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.529,0.0015,1KG_AFR_AF,COL4A4
471231,2:227983062:A>C,NM_000092.4:c.489+299T>G,\N,\N,7/47,Benign,\N,intron_variant,0.489,0.0113,1KG_AFR_AF,COL4A4
471232,2:227983116:C>G,NM_000092.4:c.489+245G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,5.411,\N,\N,COL4A4
471233,2:227983126:T>A,NM_000092.4:c.489+235A>T,\N,\N,7/47,Unknown significance,\N,intron_variant,7.027,\N,\N,COL4A4
471234,2:227983128:C>T,NM_000092.4:c.489+233G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,5.164,\N,\N,COL4A4
471235,2:227983131:T>G,NM_000092.4:c.489+230A>C,\N,\N,7/47,Unknown significance,\N,intron_variant,3.502,\N,\N,COL4A4
471236,2:227983142:A>C,NM_000092.4:c.489+219T>G,\N,\N,7/47,Unknown significance,\N,intron_variant,0.364,\N,\N,COL4A4
471237,2:227983145:A>T,NM_000092.4:c.489+216T>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.312,\N,\N,COL4A4
471238,2:227983164:C>T,NM_000092.4:c.489+197G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,4.437,0.0031,1KG_SAS_AF,COL4A4
471239,2:227983167:C>T,NM_000092.4:c.489+194G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,2.737,0.001,1KG_EAS_AF,COL4A4
471240,2:227983174:C>T,NM_000092.4:c.489+187G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,2.024,0.001,1KG_SAS_AF,COL4A4
471241,2:227983199:A>C,NM_000092.4:c.489+162T>G,\N,\N,7/47,Benign,\N,intron_variant,1.027,0.0102,1KG_SAS_AF,COL4A4
471242,2:227983201:T>C,NM_000092.4:c.489+160A>G,\N,\N,7/47,Benign,\N,intron_variant,4.252,0.0129,1KG_AFR_AF,COL4A4
471243,2:227983205:G>T,NM_000092.4:c.489+156C>A,\N,\N,7/47,Unknown significance,\N,intron_variant,3.714,\N,\N,COL4A4
471244,2:227983209:A>G,NM_000092.4:c.489+152T>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.96,0.001,1KG_SAS_AF,COL4A4
471245,2:227983214:T>C,NM_000092.4:c.489+147A>G,\N,\N,7/47,Benign,\N,intron_variant,3.713,0.1301,1KG_AFR_AF,COL4A4
471246,2:227983227:C>G,NM_000092.4:c.489+134G>C,\N,\N,7/47,Unknown significance,\N,intron_variant,2.778,0.0008,1KG_AFR_AF,COL4A4
471247,2:227983259:G>A,NM_000092.4:c.489+102C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,4.462,0.0008,1KG_AFR_AF,COL4A4
471248,2:227983260:G>A,NM_000092.4:c.489+101C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,7.327,0.0008,1KG_AFR_AF,COL4A4
471249,2:227983310:C>T,NM_000092.4:c.489+51G>A,\N,\N,7/47,Unknown significance,\N,intron_variant,1.103,0.00026441,EVS_AA_AF,COL4A4
471250,2:227983312:G>A,NM_000092.4:c.489+49C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,4.938,0.000103199,EXAC_AFR_AF,COL4A4
471251,2:227983330:T>A,NM_000092.4:c.489+31A>T,\N,\N,7/47,Unknown significance,\N,intron_variant,7.811,0.000103157,EXAC_AFR_AF,COL4A4
471252,2:227983330:T>C,NM_000092.4:c.489+31A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,4.687,0.0000868659,EXAC_AMR_AF,COL4A4
471253,2:227983331:T>G,NM_000092.4:c.489+30A>C,\N,\N,7/47,Unknown significance,\N,intron_variant,7.263,0.0000606649,EXAC_SAS_AF,COL4A4
471254,2:227983335:GT>G,NM_000092.4:c.489+25del,\N,\N,7/47,Unknown significance,\N,intron_variant,3.739,0.0000606649,EXAC_SAS_AF,COL4A4
471255,2:227983349:T>C,NM_000092.4:c.489+12A>G,\N,\N,7/47,Unknown significance,\N,intron_variant,1.929,0.0000606575,EXAC_SAS_AF,COL4A4
471256,2:227983350:G>A,NM_000092.4:c.489+11C>T,\N,\N,7/47,Unknown significance,\N,intron_variant,1.638,0.000117619,EXAC_EAS_AF,COL4A4
471257,2:227983367:G>A,NM_000092.4:c.483C>T,NP_000083.3:p.Gly161=,7/48,\N,Unknown significance,\N,synonymous_variant,5.894,0.000117536,EXAC_EAS_AF,COL4A4
471258,2:227983368:C>A,NM_000092.4:c.482G>T,NP_000083.3:p.Gly161Val,7/48,\N,Unknown significance,\N,missense_variant,27.5,0.0000606502,EXAC_SAS_AF,COL4A4
471259,2:227983369:C>G,NM_000092.4:c.481G>C,NP_000083.3:p.Gly161Arg,7/48,\N,Unknown significance,\N,missense_variant,27.8,0.0000150802,EXAC_NFE_AF,COL4A4
471260,2:227983370:T>G,NM_000092.4:c.480A>C,NP_000083.3:p.Gly160=,7/48,\N,Unknown significance,\N,synonymous_variant,0.943,\N,\N,COL4A4
471261,2:227983373:T>C,NM_000092.4:c.477A>G,NP_000083.3:p.Pro159=,7/48,\N,Unknown significance,\N,synonymous_variant,2.242,0.000117481,EXAC_EAS_AF,COL4A4
471262,2:227983375:G>A,NM_000092.4:c.475C>T,NP_000083.3:p.Pro159Ser,7/48,\N,Likely benign,\N,missense_variant,17.56,0.000015077,EXAC_NFE_AF,COL4A4
471263,2:227983388:T>A,NM_000092.4:c.462A>T,NP_000083.3:p.Arg154Ser,7/48,\N,Likely benign,\N,missense_variant,22.9,0.000122369,EVS_EA_AF,COL4A4
471264,2:227983390:T>C,NM_000092.4:c.460A>G,NP_000083.3:p.Arg154Gly,7/48,\N,Unknown significance,\N,missense_variant,23.1,0.0000150807,EXAC_NFE_AF,COL4A4
471265,2:227983392:C>A,NM_000092.4:c.458G>T,NP_000083.3:p.Gly153Val,7/48,\N,Unknown significance,\N,missense_variant,24.2,0.0000150811,EXAC_NFE_AF,COL4A4
471266,2:227983392:C>T,NM_000092.4:c.458G>A,NP_000083.3:p.Gly153Glu,7/48,\N,Likely benign,\N,missense_variant,12.8,0.0000150811,EXAC_NFE_AF,COL4A4
471267,2:227983395:C>T,NM_000092.4:c.455G>A,NP_000083.3:p.Gly152Glu,7/48,\N,Pathogenic,Alport syndrome,missense_variant,33,\N,\N,COL4A4
471268,2:227983403:C>T,NM_000092.4:c.447G>A,NP_000083.3:p.Gly149=,7/48,\N,Unknown significance,\N,synonymous_variant,16.22,0.000122429,EVS_EA_AF,COL4A4
471269,2:227983404:C>A,NM_000092.4:c.446G>T,NP_000083.3:p.Gly149Val,7/48,\N,Unknown significance,\N,missense_variant,33,0.0000868508,EXAC_AMR_AF,COL4A4
471270,2:227983404:C>T,NM_000092.4:c.446G>A,NP_000083.3:p.Gly149Glu,7/48,\N,Pathogenic,Alport syndrome,missense_variant,32,0.000122429,EVS_EA_AF,COL4A4
471271,2:227983419:G>A,NM_000092.4:c.431C>T,NP_000083.3:p.Ser144Leu,7/48,\N,Unknown significance,\N,missense_variant,33,0.000619451,EXAC_AFR_AF,COL4A4
471272,2:227983422:C>A,NM_000092.4:c.428G>T,NP_000083.3:p.Gly143Val,7/48,\N,Pathogenic,Glomerular microscopic haematuria,missense_variant,33,\N,\N,COL4A4
471273,2:227983430:G>A,NM_000092.4:c.420C>T,NP_000083.3:p.Gly140=,7/48,\N,Unknown significance,\N,synonymous_variant,8.018,0.0000606796,EXAC_SAS_AF,COL4A4
471274,2:227983430:G>T,NM_000092.4:c.420C>A,NP_000083.3:p.Gly140=,7/48,\N,Unknown significance,\N,synonymous_variant,4.184,0.00027027,EVS_AA_AF,COL4A4
471275,2:227983431:C>T,NM_000092.4:c.419G>A,NP_000083.3:p.Gly140Asp,7/48,\N,Unknown significance,\N,missense_variant,27.2,0.000117897,EXAC_EAS_AF,COL4A4
471276,2:227983432:C>T,NM_000092.4:c.418G>A,NP_000083.3:p.Gly140Ser,7/48,\N,Unknown significance,\N,missense_variant,27.9,0.0000151222,EXAC_NFE_AF,COL4A4
471277,2:227983434:C>T,NM_000092.4:c.416G>A,NP_000083.3:p.Ser139Asn,7/48,\N,Likely benign,\N,missense_variant,11.08,0.000182083,EXAC_SAS_AF,COL4A4
471278,2:227983440:C>T,NM_000092.4:c.410G>A,NP_000083.3:p.Gly137Asp,7/48,\N,Pathogenic,Focal segmental glomerulosclerosis,missense_variant,27.3,0.000271297,EVS_AA_AF,COL4A4
471279,2:227983445:T>A,NM_000092.4:c.405A>T,NP_000083.3:p.Lys135Asn,7/48,\N,Likely benign,\N,missense_variant,25.2,0.001,1KG_SAS_AF,COL4A4
471280,2:227983460:A>G,NM_000092.4:c.390T>C,NP_000083.3:p.Pro130=,7/48,\N,Unknown significance,\N,synonymous_variant,8.276,0.0008,1KG_AFR_AF,COL4A4
471281,2:227983464:G>C,NM_000092.4:c.386C>G,NP_000083.3:p.Pro129Arg,7/48,\N,Unknown significance,\N,missense_variant,22.5,0.0000304377,EXAC_NFE_AF,COL4A4
471282,2:227983466:C>T,NM_000092.4:c.384G>A,NP_000083.3:p.Gly128=,7/48,\N,Unknown significance,\N,synonymous_variant,17.63,0.00021182,EXAC_AFR_AF,COL4A4
471283,2:227983470:G>C,NM_000092.4:c.380C>G,NP_000083.3:p.Pro127Arg,7/48,\N,Unknown significance,\N,missense_variant,27.5,0.00010591,EXAC_AFR_AF,COL4A4
471284,2:227983475:C>T,NM_000092.4:c.375G>A,NP_000083.3:p.Gly125=,7/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.43,0.000273075,EVS_AA_AF,COL4A4
471285,2:227983488:C>T,NM_000092.4:c.373-11G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,13.8,0.0001523,EXAC_FIN_AF,COL4A4
471286,2:227983505:C>G,NM_000092.4:c.373-28G>C,\N,\N,6/47,Unknown significance,\N,intron_variant,2.561,0.000119904,EXAC_EAS_AF,COL4A4
471287,2:227983512:G>T,NM_000092.4:c.373-35C>A,\N,\N,6/47,Unknown significance,\N,intron_variant,1.845,0.0008,1KG_AFR_AF,COL4A4
471288,2:227983513:C>T,NM_000092.4:c.373-36G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,0.556,0.0000309148,EXAC_NFE_AF,COL4A4
471289,2:227983514:G>A,NM_000092.4:c.373-37C>T,\N,\N,6/47,Unknown significance,\N,intron_variant,1.753,0.000108861,EXAC_AFR_AF,COL4A4
471290,2:227983514:G>T,NM_000092.4:c.373-37C>A,\N,\N,6/47,Unknown significance,\N,intron_variant,0.486,0.002,1KG_SAS_AF,COL4A4
471291,2:227983518:A>AGAT,NM_000092.4:c.373-42_373-41insATC,\N,\N,6/47,Unknown significance,\N,intron_variant,0.201,0.000962232,EXAC_EAS_AF,COL4A4
471292,2:227983521:T>C,NM_000092.4:c.373-44A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,2.847,\N,\N,COL4A4
471293,2:227983523:A>G,NM_000092.4:c.373-46T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,4.039,0.0000155251,EXAC_NFE_AF,COL4A4
471294,2:227983533:G>T,NM_000092.4:c.373-56C>A,\N,\N,6/47,Unknown significance,\N,intron_variant,1.03,0.0014,1KG_AMR_AF,COL4A4
471295,2:227983540:C>T,NM_000092.4:c.373-63G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,1.252,\N,\N,COL4A4
471296,2:227983608:C>T,NM_000092.4:c.373-131G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,2.572,0.001,1KG_EAS_AF,COL4A4
471297,2:227983620:A>G,NM_000092.4:c.373-143T>C,\N,\N,6/47,Benign,\N,intron_variant,1.16,0.0245,1KG_SAS_AF,COL4A4
471298,2:227983621:G>A,NM_000092.4:c.373-144C>T,\N,\N,6/47,Unknown significance,\N,intron_variant,2.586,0.0023,1KG_AFR_AF,COL4A4
471299,2:227983627:G>A,NM_000092.4:c.373-150C>T,\N,\N,6/47,Unknown significance,\N,intron_variant,1.407,0.001,1KG_SAS_AF,COL4A4
471300,2:227983634:G>A,NM_000092.4:c.373-157C>T,\N,\N,6/47,Unknown significance,\N,intron_variant,4.523,0.001,1KG_EUR_AF,COL4A4
471301,2:227983640:A>C,NM_000092.4:c.373-163T>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.419,\N,\N,COL4A4
471302,2:227983640:A>G,NM_000092.4:c.373-163T>C,\N,\N,6/47,Benign,\N,intron_variant,1.509,0.0288,1KG_EUR_AF,COL4A4
471303,2:227983650:A>C,NM_000092.4:c.373-173T>G,\N,\N,6/47,Unknown significance,\N,intron_variant,1.213,0.0015,1KG_AFR_AF,COL4A4
471304,2:227983690:C>T,NM_000092.4:c.373-213G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,7.683,0.001,1KG_EUR_AF,COL4A4
471305,2:227983721:C>T,NM_000092.4:c.373-244G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,2.106,0.0015,1KG_AFR_AF,COL4A4
471306,2:227983800:T>C,NM_000092.4:c.373-323A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,1.047,\N,\N,COL4A4
471307,2:227983809:G>A,NM_000092.4:c.373-332C>T,\N,\N,6/47,Benign,\N,intron_variant,3.393,0.1301,1KG_AFR_AF,COL4A4
471308,2:227983822:C>G,NM_000092.4:c.373-345G>C,\N,\N,6/47,Unknown significance,\N,intron_variant,0.529,\N,\N,COL4A4
471309,2:227983858:A>G,NM_000092.4:c.373-381T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,2.341,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
471310,2:227983891:T>C,NM_000092.4:c.373-414A>G,\N,\N,6/47,Benign,\N,intron_variant,2.172,0.0477,1KG_EUR_AF,COL4A4
471311,2:227983916:T>TAG,NM_000092.4:c.373-441_373-440dup,\N,\N,6/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471312,2:227983936:T>G,NM_000092.4:c.373-459A>C,\N,\N,6/47,Benign,\N,intron_variant,2.562,0.0072,1KG_AMR_AF,COL4A4
471313,2:227983944:A>AC,NM_000092.4:c.373-468dup,\N,\N,6/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471314,2:227983957:C>T,NM_000092.4:c.373-480G>A,\N,\N,6/47,Benign,\N,intron_variant,0.969,0.0098,1KG_AFR_AF,COL4A4
471315,2:227983962:C>T,NM_000092.4:c.373-485G>A,\N,\N,6/47,Unknown significance,\N,intron_variant,3.386,0.002,1KG_EUR_AF,COL4A4
471316,2:227983995:T>C,NM_000092.4:c.373-518A>G,\N,\N,6/47,Benign,\N,intron_variant,0.317,0.1309,1KG_AFR_AF,COL4A4
471317,2:227984006:T>G,NM_000092.4:c.373-529A>C,\N,\N,6/47,Benign,\N,intron_variant,4.137,0.2073,1KG_AFR_AF,COL4A4
471318,2:227984027:T>C,NM_000092.4:c.373-550A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.763,0.0014,1KG_AMR_AF,COL4A4
471319,2:227984033:A>C,NM_000092.4:c.373-556T>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.073,\N,\N,COL4A4
471320,2:227984074:T>G,NM_000092.4:c.372+537A>C,\N,\N,6/47,Unknown significance,\N,intron_variant,0.258,\N,\N,COL4A4
471321,2:227984106:C>A,NM_000092.4:c.372+505G>T,\N,\N,6/47,Unknown significance,\N,intron_variant,0.153,0.0008,1KG_AFR_AF,COL4A4
471322,2:227984110:A>G,NM_000092.4:c.372+501T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,0.013,\N,\N,COL4A4
471323,2:227984215:G>A,NM_000092.4:c.372+396C>T,\N,\N,6/47,Unknown significance,\N,intron_variant,3.356,\N,\N,COL4A4
471324,2:227984298:A>G,NM_000092.4:c.372+313T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,1.536,0.0014,1KG_AMR_AF,COL4A4
471325,2:227984320:T>C,NM_000092.4:c.372+291A>G,\N,\N,6/47,Benign,\N,intron_variant,0.053,0.1301,1KG_AFR_AF,COL4A4
471326,2:227984322:G>C,NM_000092.4:c.372+289C>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.184,0.003,1KG_AFR_AF,COL4A4
471327,2:227984389:A>T,NM_000092.4:c.372+222T>A,\N,\N,6/47,Unknown significance,\N,intron_variant,0.004,0.001,1KG_EAS_AF,COL4A4
471328,2:227984461:T>C,NM_000092.4:c.372+150A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.334,0.0029,1KG_AMR_AF,COL4A4
471329,2:227984528:T>C,NM_000092.4:c.372+83A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,0.512,\N,\N,COL4A4
471330,2:227984561:G>T,NM_000092.4:c.372+50C>A,\N,\N,6/47,Unknown significance,\N,intron_variant,3.122,0.000118821,EXAC_AMR_AF,COL4A4
471331,2:227984564:T>C,NM_000092.4:c.372+47A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,2.358,0.000159413,EXAC_NFE_AF,COL4A4
471332,2:227984567:T>C,NM_000092.4:c.372+44A>G,\N,\N,6/47,Unknown significance,\N,intron_variant,5.032,0.000232666,EXAC_FIN_AF,COL4A4
471333,2:227984577:T>A,NM_000092.4:c.372+34A>T,\N,\N,6/47,Unknown significance,\N,intron_variant,5.059,0.000168862,EXAC_AFR_AF,COL4A4
471334,2:227984593:A>G,NM_000092.4:c.372+18T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,14.52,0.000114837,EXAC_AMR_AF,COL4A4
471335,2:227984597:T>G,NM_000092.4:c.372+14A>C,\N,\N,6/47,Unknown significance,\N,intron_variant,15.66,\N,\N,COL4A4
471336,2:227984599:A>G,NM_000092.4:c.372+12T>C,\N,\N,6/47,Unknown significance,\N,intron_variant,14.44,0.0000255558,EXAC_NFE_AF,COL4A4
471337,2:227984605:A>G,NM_000092.4:c.372+6T>C,\N,\N,6/47,Unknown significance,\N,splice_region_variant&intron_variant,12.12,0.0000253331,EXAC_NFE_AF,COL4A4
471338,2:227984622:C>T,NM_000092.4:c.361G>A,NP_000083.3:p.Asp121Asn,6/48,\N,Unknown significance,\N,missense_variant,27.1,0.00165017,EXAC_OTH_AF,COL4A4
471339,2:227984636:C>T,NM_000092.4:c.347G>A,NP_000083.3:p.Gly116Glu,6/48,\N,Likely pathogenic,Thin basement membrane disease,missense_variant,33,\N,\N,COL4A4
471340,2:227984638:A>G,NM_000092.4:c.345T>C,NP_000083.3:p.Pro115=,6/48,\N,Unknown significance,\N,synonymous_variant,8.074,0.0000525845,EXAC_NFE_AF,COL4A4
471341,2:227984645:C>T,NM_000092.4:c.338G>A,NP_000083.3:p.Gly113Asp,6/48,\N,Unknown significance,\N,missense_variant,32,0.000343053,EXAC_AFR_AF,COL4A4
471342,2:227984652:G>A,NM_000092.4:c.331C>T,NP_000083.3:p.Pro111Ser,6/48,\N,Unknown significance,\N,missense_variant,22,0.0000279205,EXAC_NFE_AF,COL4A4
471343,2:227984656:C>G,NM_000092.4:c.328-1G>C,\N,\N,5/47,Unknown significance,\N,splice_acceptor_variant,25.3,0.000179856,EXAC_AFR_AF,COL4A4
471344,2:227984664:C>T,NM_000092.4:c.328-9G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,20.6,0.0000306429,EXAC_NFE_AF,COL4A4
471345,2:227984667:GAAAAT>G,NM_000092.4:c.328-17_328-13del,\N,\N,5/47,Unknown significance,\N,intron_variant,15.2,0.000149477,EXAC_AMR_AF,COL4A4
471346,2:227984672:T>A,NM_000092.4:c.328-17A>T,\N,\N,5/47,Unknown significance,\N,intron_variant,13.93,\N,\N,COL4A4
471347,2:227984672:TAAAAC>T,NM_000092.4:c.328-22_328-18del,\N,\N,5/47,Unknown significance,\N,intron_variant,16.35,\N,\N,COL4A4
471348,2:227984677:C>T,NM_000092.4:c.328-22G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,3.979,\N,\N,COL4A4
471349,2:227984677:CAA>C,NM_000092.4:c.328-24_328-23del,\N,\N,5/47,Unknown significance,\N,intron_variant,7.322,\N,\N,COL4A4
471350,2:227984683:G>C,NM_000092.4:c.328-28C>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.2,0.0000450532,EXAC_NFE_AF,COL4A4
471351,2:227984698:A>G,NM_000092.4:c.328-43T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,8.022,0.000544218,EXAC_NFE_AF,COL4A4
471352,2:227984784:A>AT,NM_000092.4:c.328-130dup,\N,\N,5/47,Benign,\N,intron_variant,0.291,0.1301,1KG_AFR_AF,COL4A4
471353,2:227984799:G>T,NM_000092.4:c.328-144C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,1.05,0.0008,1KG_AFR_AF,COL4A4
471354,2:227984822:T>G,NM_000092.4:c.328-167A>C,\N,\N,5/47,Unknown significance,\N,intron_variant,2.596,0.001,1KG_SAS_AF,COL4A4
471355,2:227984826:C>T,NM_000092.4:c.328-171G>A,\N,\N,5/47,Benign,\N,intron_variant,3.963,0.0212,1KG_AFR_AF,COL4A4
471356,2:227984856:G>A,NM_000092.4:c.328-201C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,4.782,\N,\N,COL4A4
471357,2:227984859:G>C,NM_000092.4:c.328-204C>G,\N,\N,5/47,Unknown significance,\N,intron_variant,1.27,\N,\N,COL4A4
471358,2:227984863:T>G,NM_000092.4:c.328-208A>C,\N,\N,5/47,Benign,\N,intron_variant,4.965,0.0079,1KG_EAS_AF,COL4A4
471359,2:227984879:T>G,NM_000092.4:c.328-224A>C,\N,\N,5/47,Unknown significance,\N,intron_variant,4.657,\N,\N,COL4A4
471360,2:227984912:G>A,NM_000092.4:c.328-257C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,10.27,0.0014,1KG_AMR_AF,COL4A4
471361,2:227984918:C>T,NM_000092.4:c.328-263G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,10.17,0.001,1KG_EUR_AF,COL4A4
471362,2:227984919:G>A,NM_000092.4:c.328-264C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,9.268,0.002,1KG_EAS_AF,COL4A4
471363,2:227984987:CT>C,NM_000092.4:c.328-333del,\N,\N,5/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471364,2:227984996:G>A,NM_000092.4:c.328-341C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,12.52,0.001,1KG_EAS_AF,COL4A4
471365,2:227984997:T>C,NM_000092.4:c.328-342A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,11.73,0.0029,1KG_AMR_AF,COL4A4
471366,2:227984999:G>T,NM_000092.4:c.328-344C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,11.92,\N,\N,COL4A4
471367,2:227985044:T>G,NM_000092.4:c.328-389A>C,\N,\N,5/47,Unknown significance,\N,intron_variant,5.339,\N,\N,COL4A4
471368,2:227985085:T>G,NM_000092.4:c.328-430A>C,\N,\N,5/47,Unknown significance,\N,intron_variant,5.237,0.001,1KG_EAS_AF,COL4A4
471369,2:227985087:A>G,NM_000092.4:c.328-432T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,5.383,0.0008,1KG_AFR_AF,COL4A4
471370,2:227985131:T>C,NM_000092.4:c.328-476A>G,\N,\N,5/47,Benign,\N,intron_variant,0.715,0.0113,1KG_AFR_AF,COL4A4
471371,2:227985156:G>T,NM_000092.4:c.328-501C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,2.016,\N,\N,COL4A4
471372,2:227985163:G>A,NM_000092.4:c.328-508C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,1.587,0.0008,1KG_AFR_AF,COL4A4
471373,2:227985180:T>A,NM_000092.4:c.328-525A>T,\N,\N,5/47,Unknown significance,\N,intron_variant,5.918,0.003,1KG_EAS_AF,COL4A4
471374,2:227985191:T>G,NM_000092.4:c.328-536A>C,\N,\N,5/47,Unknown significance,\N,intron_variant,2.761,\N,\N,COL4A4
471375,2:227985196:AG>A,NM_000092.4:c.327+533del,\N,\N,5/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471376,2:227985197:G>A,NM_000092.4:c.327+533C>T,\N,\N,5/47,Benign,\N,intron_variant,2.704,0.1301,1KG_AFR_AF,COL4A4
471377,2:227985200:A>G,NM_000092.4:c.327+530T>C,\N,\N,5/47,Benign,\N,intron_variant,3.485,0.1301,1KG_AFR_AF,COL4A4
471378,2:227985237:A>AT,NM_000092.4:c.327+492dup,\N,\N,5/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471379,2:227985257:A>C,NM_000092.4:c.327+473T>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.173,0.0008,1KG_AFR_AF,COL4A4
471380,2:227985280:A>G,NM_000092.4:c.327+450T>C,\N,\N,5/47,Benign,\N,intron_variant,2.563,0.0356,1KG_AFR_AF,COL4A4
471381,2:227985323:A>G,NM_000092.4:c.327+407T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,1.503,0.0031,1KG_SAS_AF,COL4A4
471382,2:227985354:T>C,NM_000092.4:c.327+376A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,2.268,\N,\N,COL4A4
471383,2:227985364:C>T,NM_000092.4:c.327+366G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,4.737,\N,\N,COL4A4
471384,2:227985389:A>G,NM_000092.4:c.327+341T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,0.213,0.001,1KG_EUR_AF,COL4A4
471385,2:227985390:A>G,NM_000092.4:c.327+340T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,1.732,0.001,1KG_SAS_AF,COL4A4
471386,2:227985391:C>T,NM_000092.4:c.327+339G>A,\N,\N,5/47,Benign,\N,intron_variant,0.028,0.0575,1KG_EAS_AF,COL4A4
471387,2:227985392:G>A,NM_000092.4:c.327+338C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,2.26,\N,\N,COL4A4
471388,2:227985419:C>T,NM_000092.4:c.327+311G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,0.873,\N,\N,COL4A4
471389,2:227985428:C>T,NM_000092.4:c.327+302G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,3.756,\N,\N,COL4A4
471390,2:227985445:G>A,NM_000092.4:c.327+285C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,0.022,\N,\N,COL4A4
471391,2:227985448:G>C,NM_000092.4:c.327+282C>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.182,\N,\N,COL4A4
471392,2:227985451:C>T,NM_000092.4:c.327+279G>A,\N,\N,5/47,Benign,\N,intron_variant,0.252,0.0318,1KG_AFR_AF,COL4A4
471393,2:227985472:G>C,NM_000092.4:c.327+258C>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.391,\N,\N,COL4A4
471394,2:227985491:T>TA,NM_000092.4:c.327+238dup,\N,\N,5/47,Unknown significance,\N,intron_variant,4.053,\N,\N,COL4A4
471395,2:227985525:T>C,NM_000092.4:c.327+205A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.155,\N,\N,COL4A4
471396,2:227985538:C>G,NM_000092.4:c.327+192G>C,\N,\N,5/47,Benign,\N,intron_variant,1.635,0.00657895,EXAC_AMR_AF,COL4A4
471397,2:227985543:T>C,NM_000092.4:c.327+187A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,1.113,\N,\N,COL4A4
471398,2:227985548:G>T,NM_000092.4:c.327+182C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,0.072,\N,\N,COL4A4
471399,2:227985569:C>T,NM_000092.4:c.327+161G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,0.068,\N,\N,COL4A4
471400,2:227985570:G>A,NM_000092.4:c.327+160C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,0.255,0.000579598,EXAC_NFE_AF,COL4A4
471401,2:227985575:A>C,NM_000092.4:c.327+155T>G,\N,\N,5/47,Unknown significance,\N,intron_variant,0.682,\N,\N,COL4A4
471402,2:227985586:C>T,NM_000092.4:c.327+144G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,3.061,0.000551876,EXAC_AFR_AF,COL4A4
471403,2:227985587:G>A,NM_000092.4:c.327+143C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,0.325,0.00085034,EXAC_SAS_AF,COL4A4
471404,2:227985590:G>T,NM_000092.4:c.327+140C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,0.717,\N,\N,COL4A4
471405,2:227985594:G>T,NM_000092.4:c.327+136C>A,\N,\N,5/47,Unknown significance,\N,intron_variant,1.73,\N,\N,COL4A4
471406,2:227985599:G>A,NM_000092.4:c.327+131C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,6.47,\N,\N,COL4A4
471407,2:227985600:A>C,NM_000092.4:c.327+130T>G,\N,\N,5/47,Benign,\N,intron_variant,5.191,0.0116959,EXAC_SAS_AF,COL4A4
471408,2:227985607:A>T,NM_000092.4:c.327+123T>A,\N,\N,5/47,Unknown significance,\N,intron_variant,7.072,0.000379363,EXAC_SAS_AF,COL4A4
471409,2:227985613:C>T,NM_000092.4:c.327+117G>A,\N,\N,5/47,Unknown significance,\N,intron_variant,9.128,0.0000487852,EXAC_NFE_AF,COL4A4
471410,2:227985644:G>A,NM_000092.4:c.327+86C>T,\N,\N,5/47,Benign,\N,intron_variant,2.888,0.0101,1KG_AMR_AF,COL4A4
471411,2:227985661:A>G,NM_000092.4:c.327+69T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,0.908,\N,\N,COL4A4
471412,2:227985666:C>A,NM_000092.4:c.327+64G>T,\N,\N,5/47,Benign,\N,intron_variant,0.066,0.0091,1KG_AFR_AF,COL4A4
471413,2:227985681:T>C,NM_000092.4:c.327+49A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,1.991,0.000120744,EVS_EA_AF,COL4A4
471414,2:227985687:T>C,NM_000092.4:c.327+43A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,3.565,0.0008,1KG_AFR_AF,COL4A4
471415,2:227985689:G>A,NM_000092.4:c.327+41C>T,\N,\N,5/47,Unknown significance,\N,intron_variant,4.06,0.0000605767,EXAC_SAS_AF,COL4A4
471416,2:227985698:T>C,NM_000092.4:c.327+32A>G,\N,\N,5/47,Unknown significance,\N,intron_variant,4.911,\N,\N,COL4A4
471417,2:227985706:A>C,NM_000092.4:c.327+24T>G,\N,\N,5/47,Unknown significance,\N,intron_variant,5.304,0.000060562,EXAC_SAS_AF,COL4A4
471418,2:227985714:A>G,NM_000092.4:c.327+16T>C,\N,\N,5/47,Unknown significance,\N,intron_variant,4.702,0.0000149885,EXAC_NFE_AF,COL4A4
471419,2:227985723:G>A,NM_000092.4:c.327+7C>T,\N,\N,5/47,Unknown significance,\N,splice_region_variant&intron_variant,10.11,0.0008,1KG_AFR_AF,COL4A4
471420,2:227985725:C>T,NM_000092.4:c.327+5G>A,\N,\N,5/47,Unknown significance,\N,splice_region_variant&intron_variant,18.13,0.001,1KG_EAS_AF,COL4A4
471421,2:227985731:T>C,NM_000092.4:c.326A>G,NP_000083.3:p.Lys109Arg,5/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.8,0.0000149862,EXAC_NFE_AF,COL4A4
471422,2:227985733:A>G,NM_000092.4:c.324T>C,NP_000083.3:p.Asp108=,5/48,\N,Unknown significance,\N,synonymous_variant,9.394,0.0000863856,EXAC_AMR_AF,COL4A4
471423,2:227985737:C>T,NM_000092.4:c.320G>A,NP_000083.3:p.Gly107Glu,5/48,\N,Unknown significance,\N,missense_variant,32,0.000120977,EVS_EA_AF,COL4A4
471424,2:227985743:TC>T,NM_000092.4:c.313del,NP_000083.3:p.Asp105ThrfsTer16,5/48,\N,Pathogenic,Benign haematuria,frameshift_variant,\N,\N,\N,COL4A4
471425,2:227985745:C>T,NM_000092.4:c.312G>A,NP_000083.3:p.Gly104=,5/48,\N,Unknown significance,\N,synonymous_variant,17.5,\N,\N,COL4A4
471426,2:227985765:C>T,NM_000092.4:c.292G>A,NP_000083.3:p.Gly98Ser,5/48,\N,Unknown significance,\N,missense_variant,34,0.0000149939,EXAC_NFE_AF,COL4A4
471427,2:227985766:G>A,NM_000092.4:c.291C>T,NP_000083.3:p.Arg97=,5/48,\N,Unknown significance,\N,synonymous_variant,13.28,0.00112418,EXAC_AMR_AF,COL4A4
471428,2:227985767:C>T,NM_000092.4:c.290G>A,NP_000083.3:p.Arg97His,5/48,\N,Likely benign,\N,missense_variant,22.4,0.0000606281,EXAC_SAS_AF,COL4A4
471429,2:227985768:G>A,NM_000092.4:c.289C>T,NP_000083.3:p.Arg97Cys,5/48,\N,Likely benign,\N,missense_variant,28,0.00023218,EXAC_EAS_AF,COL4A4
471430,2:227985769:G>A,NM_000092.4:c.288C>T,NP_000083.3:p.Asp96=,5/48,\N,Unknown significance,\N,synonymous_variant,9.028,0.0000864902,EXAC_AMR_AF,COL4A4
471431,2:227985771:C>T,NM_000092.4:c.286G>A,NP_000083.3:p.Asp96Asn,5/48,\N,Unknown significance,\N,missense_variant,29.4,0.0000864902,EXAC_AMR_AF,COL4A4
471432,2:227985772:C>T,NM_000092.4:c.285G>A,NP_000083.3:p.Gly95=,5/48,\N,Unknown significance,\N,synonymous_variant,16.66,0.000454133,EXAC_FIN_AF,COL4A4
471433,2:227985793:T>C,NM_000092.4:c.264A>G,NP_000083.3:p.Ser88=,5/48,\N,Unknown significance,\N,synonymous_variant,5.523,0.0000607017,EXAC_SAS_AF,COL4A4
471434,2:227985796:A>C,NM_000092.4:c.261T>G,NP_000083.3:p.Leu87=,5/48,\N,Unknown significance,\N,synonymous_variant,0.195,0.0000150159,EXAC_NFE_AF,COL4A4
471435,2:227985801:C>T,NM_000092.4:c.256G>A,NP_000083.3:p.Gly86Arg,5/48,\N,Unknown significance,\N,missense_variant,27.8,0.0000607312,EXAC_SAS_AF,COL4A4
471436,2:227985803:A>G,NM_000092.4:c.254T>C,NP_000083.3:p.Ile85Thr,5/48,\N,Likely benign,\N,missense_variant,0.329,0.000122549,EVS_EA_AF,COL4A4
471437,2:227985810:CT>C,NM_000092.4:c.246del,NP_000083.3:p.Gly83AspfsTer11,5/48,\N,Unknown significance,\N,frameshift_variant,22.1,0.0000608051,EXAC_SAS_AF,COL4A4
471438,2:227985815:G>A,NM_000092.4:c.242C>T,NP_000083.3:p.Ala81Val,5/48,\N,Likely benign,\N,missense_variant,19.03,\N,\N,COL4A4
471439,2:227985815:G>T,NM_000092.4:c.242C>A,NP_000083.3:p.Ala81Asp,5/48,\N,Likely benign,\N,missense_variant,22.3,0.0000150652,EXAC_NFE_AF,COL4A4
471440,2:227985822:G>A,NM_000092.4:c.235C>T,NP_000083.3:p.Leu79=,5/48,\N,Unknown significance,\N,synonymous_variant,9.718,0.0000608791,EXAC_SAS_AF,COL4A4
471441,2:227985822:G>C,NM_000092.4:c.235C>G,NP_000083.3:p.Leu79Val,5/48,\N,Unknown significance,\N,missense_variant,16.39,0.000015083,EXAC_NFE_AF,COL4A4
471442,2:227985825:G>A,NM_000092.4:c.232C>T,NP_000083.3:p.Pro78Ser,5/48,\N,Likely benign,\N,missense_variant,11.21,0.0000150957,EXAC_NFE_AF,COL4A4
471443,2:227985825:G>T,NM_000092.4:c.232C>A,NP_000083.3:p.Pro78Thr,5/48,\N,Likely benign,\N,missense_variant,23.1,0.0000452871,EXAC_NFE_AF,COL4A4
471444,2:227985827:C>T,NM_000092.4:c.230G>A,NP_000083.3:p.Gly77Glu,5/48,\N,Unknown significance,\N,missense_variant,29.8,\N,\N,COL4A4
471445,2:227985831:T>C,NM_000092.4:c.226A>G,NP_000083.3:p.Ile76Val,5/48,\N,Likely benign,\N,missense_variant,20.4,0.001,1KG_EUR_AF,COL4A4
471446,2:227985840:G>A,NM_000092.4:c.217C>T,NP_000083.3:p.Gln73Ter,5/48,\N,Pathogenic,Alport syndrome,stop_gained,37,\N,\N,COL4A4
471447,2:227985844:CCCTGGTGGT>C,NM_000092.4:c.204_212del,NP_000083.3:p.Pro70_Pro72del,5/48,\N,Unknown significance,\N,inframe_deletion,21.3,\N,\N,COL4A4
471448,2:227985848:G>A,NM_000092.4:c.209C>T,NP_000083.3:p.Pro70Leu,5/48,\N,Likely benign,\N,missense_variant,9.049,0.000246518,EXAC_SAS_AF,COL4A4
471449,2:227985848:G>T,NM_000092.4:c.209C>A,NP_000083.3:p.Pro70Gln,5/48,\N,Unknown significance,\N,missense_variant,23.9,0.0000881834,EXAC_AMR_AF,COL4A4
471450,2:227985852:G>T,NM_000092.4:c.205C>A,NP_000083.3:p.Pro69Thr,5/48,\N,Unknown significance,\N,missense_variant,23.2,0.0008,1KG_AFR_AF,COL4A4
471451,2:227985854:C>A,NM_000092.4:c.203G>T,NP_000083.3:p.Gly68Val,5/48,\N,Unknown significance,\N,missense_variant,29.6,0.000210793,EXAC_AFR_AF,COL4A4
471452,2:227985858:G>C,NM_000092.4:c.199C>G,NP_000083.3:p.Pro67Ala,5/48,\N,Unknown significance,\N,missense_variant,24.9,0.000177809,EXAC_AMR_AF,COL4A4
471453,2:227985859:T>A,NM_000092.4:c.198A>T,NP_000083.3:p.Pro66=,5/48,\N,Unknown significance,\N,synonymous_variant,7.25,0.000178094,EXAC_AMR_AF,COL4A4
471454,2:227985859:T>C,NM_000092.4:c.198A>G,NP_000083.3:p.Pro66=,5/48,\N,Benign,\N,synonymous_variant,1.461,0.0216557,EVS_AA_AF,COL4A4
471455,2:227985861:G>A,NM_000092.4:c.196C>T,NP_000083.3:p.Pro66Ser,5/48,\N,Unknown significance,\N,missense_variant,24.9,0.000106,EXAC_AFR_AF,COL4A4
471456,2:227985862:A>G,NM_000092.4:c.195T>C,NP_000083.3:p.Gly65=,5/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.62,0.003,1KG_EUR_AF,COL4A4
471457,2:227985862:A>T,NM_000092.4:c.195T>A,NP_000083.3:p.Gly65=,5/48,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.86,0.0000155943,EXAC_NFE_AF,COL4A4
471458,2:227985863:C>A,NM_000092.4:c.194G>T,NP_000083.3:p.Gly65Val,5/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.7,0.0000156294,EXAC_NFE_AF,COL4A4
471459,2:227985864:C>A,NM_000092.4:c.193G>T,NP_000083.3:p.Gly65Cys,5/48,\N,Unknown significance,\N,missense_variant&splice_region_variant,30,0.0000624298,EXAC_SAS_AF,COL4A4
471460,2:227985873:G>A,NM_000092.4:c.193-9C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.55,0.000274574,EVS_AA_AF,COL4A4
471461,2:227985873:G>C,NM_000092.4:c.193-9C>G,\N,\N,4/47,Benign,\N,intron_variant,0.067,0.006,1KG_EAS_AF,COL4A4
471462,2:227985875:A>C,NM_000092.4:c.193-11T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.189,0.0000161739,EXAC_NFE_AF,COL4A4
471463,2:227985888:A>G,NM_000092.4:c.193-24T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.076,0.001,1KG_EUR_AF,COL4A4
471464,2:227985890:G>C,NM_000092.4:c.193-26C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.82,\N,\N,COL4A4
471465,2:227985891:G>A,NM_000092.4:c.193-27C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,6.181,0.00001667,EXAC_NFE_AF,COL4A4
471466,2:227985892:G>C,NM_000092.4:c.193-28C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.769,0.002,1KG_SAS_AF,COL4A4
471467,2:227985896:G>A,NM_000092.4:c.193-32C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.231,0.00096768,EXAC_AMR_AF,COL4A4
471468,2:227985900:T>G,NM_000092.4:c.193-36A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.007,\N,\N,COL4A4
471469,2:227985902:C>G,NM_000092.4:c.193-38G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.839,0.000103238,EXAC_NFE_AF,COL4A4
471470,2:227985908:T>C,NM_000092.4:c.193-44A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.943,0.000170823,EXAC_FIN_AF,COL4A4
471471,2:227985909:A>C,NM_000092.4:c.193-45T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.474,0.000143225,EXAC_EAS_AF,COL4A4
471472,2:227985911:T>C,NM_000092.4:c.193-47A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.389,0.0000674946,EXAC_SAS_AF,COL4A4
471473,2:227985912:G>A,NM_000092.4:c.193-48C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.274,0.0000181765,EXAC_NFE_AF,COL4A4
471474,2:227985914:C>T,NM_000092.4:c.193-50G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,7.842,0.00116451,EXAC_AMR_AF,COL4A4
471475,2:227985942:G>A,NM_000092.4:c.193-78C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.929,\N,\N,COL4A4
471476,2:227985947:C>T,NM_000092.4:c.193-83G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.21,0.0008,1KG_AFR_AF,COL4A4
471477,2:227986001:G>A,NM_000092.4:c.193-137C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.256,\N,\N,COL4A4
471478,2:227986013:C>T,NM_000092.4:c.193-149G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.327,\N,\N,COL4A4
471479,2:227986020:G>A,NM_000092.4:c.193-156C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.043,\N,\N,COL4A4
471480,2:227986041:G>T,NM_000092.4:c.193-177C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.859,0.0015,1KG_AFR_AF,COL4A4
471481,2:227986043:C>A,NM_000092.4:c.193-179G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.959,0.0023,1KG_AFR_AF,COL4A4
471482,2:227986043:C>T,NM_000092.4:c.193-179G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.969,\N,\N,COL4A4
471483,2:227986044:G>A,NM_000092.4:c.193-180C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.815,0.0029,1KG_AMR_AF,COL4A4
471484,2:227986044:G>C,NM_000092.4:c.193-180C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.349,\N,\N,COL4A4
471485,2:227986063:G>A,NM_000092.4:c.193-199C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.513,\N,\N,COL4A4
471486,2:227986086:G>A,NM_000092.4:c.193-222C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,11.64,0.0023,1KG_AFR_AF,COL4A4
471487,2:227986111:T>C,NM_000092.4:c.193-247A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,6.781,\N,\N,COL4A4
471488,2:227986131:A>C,NM_000092.4:c.193-267T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.24,0.001,1KG_EAS_AF,COL4A4
471489,2:227986149:C>T,NM_000092.4:c.193-285G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.458,\N,\N,COL4A4
471490,2:227986150:G>A,NM_000092.4:c.193-286C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.033,0.001,1KG_EAS_AF,COL4A4
471491,2:227986152:G>T,NM_000092.4:c.193-288C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.668,\N,\N,COL4A4
471492,2:227986158:G>A,NM_000092.4:c.193-294C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.019,\N,\N,COL4A4
471493,2:227986173:C>T,NM_000092.4:c.193-309G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.442,\N,\N,COL4A4
471494,2:227986179:G>A,NM_000092.4:c.193-315C>T,\N,\N,4/47,Benign,\N,intron_variant,3.331,0.0348,1KG_AFR_AF,COL4A4
471495,2:227986196:C>G,NM_000092.4:c.193-332G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.563,0.0008,1KG_AFR_AF,COL4A4
471496,2:227986204:T>C,NM_000092.4:c.193-340A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.891,\N,\N,COL4A4
471497,2:227986207:G>A,NM_000092.4:c.193-343C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.241,\N,\N,COL4A4
471498,2:227986212:C>A,NM_000092.4:c.193-348G>T,\N,\N,4/47,Benign,\N,intron_variant,2.92,0.1309,1KG_AFR_AF,COL4A4
471499,2:227986212:C>T,NM_000092.4:c.193-348G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.814,0.0043,1KG_AMR_AF,COL4A4
471500,2:227986277:C>CA,NM_000092.4:c.193-414dup,\N,\N,4/47,Unknown significance,\N,intron_variant,2.698,\N,\N,COL4A4
471501,2:227986277:C>CAA,NM_000092.4:c.193-415_193-414dup,\N,\N,4/47,Unknown significance,\N,intron_variant,2.543,\N,\N,COL4A4
471502,2:227986277:C>CAAAAA,NM_000092.4:c.193-418_193-414dup,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471503,2:227986286:A>G,NM_000092.4:c.193-422T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.027,\N,\N,COL4A4
471504,2:227986288:A>G,NM_000092.4:c.193-424T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.311,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
471505,2:227986291:A>G,NM_000092.4:c.193-427T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.615,\N,\N,COL4A4
471506,2:227986292:A>G,NM_000092.4:c.193-428T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.343,\N,\N,COL4A4
471507,2:227986292:AG>A,NM_000092.4:c.193-429del,\N,\N,4/47,Unknown significance,\N,intron_variant,0.233,\N,\N,COL4A4
471508,2:227986293:G>A,NM_000092.4:c.193-429C>T,\N,\N,4/47,Benign,\N,intron_variant,0.912,0.6974,1KG_AFR_AF,COL4A4
471509,2:227986293:G>GAA,NM_000092.4:c.193-431_193-430dup,\N,\N,4/47,Benign,\N,intron_variant,0.235,0.6715,1KG_AMR_AF,COL4A4
471510,2:227986298:G>A,NM_000092.4:c.193-434C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.714,\N,\N,COL4A4
471511,2:227986319:T>G,NM_000092.4:c.193-455A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.572,\N,\N,COL4A4
471512,2:227986345:AACAAG>A,NM_000092.4:c.193-486_193-482del,\N,\N,4/47,Benign,\N,intron_variant,6.762,0.0348,1KG_AFR_AF,COL4A4
471513,2:227986351:A>C,NM_000092.4:c.193-487T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.728,\N,\N,COL4A4
471514,2:227986368:T>C,NM_000092.4:c.193-504A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,3.284,\N,\N,COL4A4
471515,2:227986379:CAT>C,NM_000092.4:c.193-517_193-516del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471516,2:227986400:C>T,NM_000092.4:c.193-536G>A,\N,\N,4/47,Benign,\N,intron_variant,5.139,0.0109,1KG_EAS_AF,COL4A4
471517,2:227986406:T>C,NM_000092.4:c.193-542A>G,\N,\N,4/47,Benign,\N,intron_variant,1.918,0.8979,1KG_AFR_AF,COL4A4
471518,2:227986406:T>TC,NM_000092.4:c.193-543_193-542insG,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471519,2:227986411:T>C,NM_000092.4:c.193-547A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.315,0.002,1KG_EAS_AF,COL4A4
471520,2:227986448:T>C,NM_000092.4:c.193-584A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.925,0.0031,1KG_SAS_AF,COL4A4
471521,2:227986453:A>ATATG,NM_000092.4:c.193-593_193-590dup,\N,\N,4/47,Unknown significance,\N,intron_variant,0.022,0.004,1KG_EUR_AF,COL4A4
471522,2:227986476:G>A,NM_000092.4:c.193-612C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.748,0.001,1KG_EAS_AF,COL4A4
471523,2:227986501:CAT>C,NM_000092.4:c.193-639_193-638del,\N,\N,4/47,Benign,\N,intron_variant,14.08,0.0098,1KG_AFR_AF,COL4A4
471524,2:227986518:T>C,NM_000092.4:c.193-654A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,14.76,\N,\N,COL4A4
471525,2:227986591:A>G,NM_000092.4:c.193-727T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,9.891,0.0008,1KG_AFR_AF,COL4A4
471526,2:227986621:G>T,NM_000092.4:c.193-757C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.538,\N,\N,COL4A4
471527,2:227986627:C>A,NM_000092.4:c.193-763G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.11,\N,\N,COL4A4
471528,2:227986654:C>A,NM_000092.4:c.193-790G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,10.94,\N,\N,COL4A4
471529,2:227986679:G>A,NM_000092.4:c.193-815C>T,\N,\N,4/47,Benign,\N,intron_variant,4.588,0.0397,1KG_EAS_AF,COL4A4
471530,2:227986689:C>T,NM_000092.4:c.193-825G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.79,\N,\N,COL4A4
471531,2:227986695:C>T,NM_000092.4:c.193-831G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.499,0.0029,1KG_AMR_AF,COL4A4
471532,2:227986696:G>A,NM_000092.4:c.193-832C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.728,0.0015,1KG_AFR_AF,COL4A4
471533,2:227986755:T>C,NM_000092.4:c.193-891A>G,\N,\N,4/47,Benign,\N,intron_variant,0.852,0.0378,1KG_AFR_AF,COL4A4
471534,2:227986846:C>T,NM_000092.4:c.193-982G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.028,\N,\N,COL4A4
471535,2:227986861:A>C,NM_000092.4:c.193-997T>G,\N,\N,4/47,Benign,\N,intron_variant,3.379,0.0506,1KG_EAS_AF,COL4A4
471536,2:227986883:C>T,NM_000092.4:c.193-1019G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.639,\N,\N,COL4A4
471537,2:227986886:C>T,NM_000092.4:c.193-1022G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.747,\N,\N,COL4A4
471538,2:227986933:G>A,NM_000092.4:c.193-1069C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.579,\N,\N,COL4A4
471539,2:227986940:C>G,NM_000092.4:c.193-1076G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.971,\N,\N,COL4A4
471540,2:227986963:C>A,NM_000092.4:c.193-1099G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.931,\N,\N,COL4A4
471541,2:227986964:T>G,NM_000092.4:c.193-1100A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.795,\N,\N,COL4A4
471542,2:227986993:C>T,NM_000092.4:c.193-1129G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.807,\N,\N,COL4A4
471543,2:227986994:G>A,NM_000092.4:c.193-1130C>T,\N,\N,4/47,Benign,\N,intron_variant,1.861,0.0265,1KG_AFR_AF,COL4A4
471544,2:227986999:G>A,NM_000092.4:c.193-1135C>T,\N,\N,4/47,Benign,\N,intron_variant,1.301,0.0212,1KG_AFR_AF,COL4A4
471545,2:227987010:G>A,NM_000092.4:c.193-1146C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.331,0.0008,1KG_AFR_AF,COL4A4
471546,2:227987059:G>A,NM_000092.4:c.193-1195C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,7.27,\N,\N,COL4A4
471547,2:227987114:G>T,NM_000092.4:c.193-1250C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.141,0.0008,1KG_AFR_AF,COL4A4
471548,2:227987156:C>T,NM_000092.4:c.193-1292G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.25,\N,\N,COL4A4
471549,2:227987170:G>C,NM_000092.4:c.193-1306C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.093,0.001,1KG_SAS_AF,COL4A4
471550,2:227987174:A>T,NM_000092.4:c.193-1310T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.382,0.001,1KG_SAS_AF,COL4A4
471551,2:227987323:G>C,NM_000092.4:c.193-1459C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.744,\N,\N,COL4A4
471552,2:227987328:C>G,NM_000092.4:c.193-1464G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.321,0.0008,1KG_AFR_AF,COL4A4
471553,2:227987344:C>T,NM_000092.4:c.193-1480G>A,\N,\N,4/47,Benign,\N,intron_variant,6.655,0.0576,1KG_AMR_AF,COL4A4
471554,2:227987350:A>G,NM_000092.4:c.193-1486T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.395,\N,\N,COL4A4
471555,2:227987437:C>T,NM_000092.4:c.193-1573G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.049,\N,\N,COL4A4
471556,2:227987439:T>C,NM_000092.4:c.193-1575A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.316,0.0008,1KG_AFR_AF,COL4A4
471557,2:227987466:G>C,NM_000092.4:c.193-1602C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.993,0.001,1KG_SAS_AF,COL4A4
471558,2:227987474:C>T,NM_000092.4:c.193-1610G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.29,0.0008,1KG_AFR_AF,COL4A4
471559,2:227987500:A>T,NM_000092.4:c.193-1636T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.802,\N,\N,COL4A4
471560,2:227987507:C>T,NM_000092.4:c.193-1643G>A,\N,\N,4/47,Benign,\N,intron_variant,0.182,0.0953,1KG_AFR_AF,COL4A4
471561,2:227987586:A>T,NM_000092.4:c.193-1722T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.688,\N,\N,COL4A4
471562,2:227987588:TA>T,NM_000092.4:c.193-1725del,\N,\N,4/47,Benign,\N,intron_variant,5.206,0.0832,1KG_AFR_AF,COL4A4
471563,2:227987589:A>T,NM_000092.4:c.193-1725T>A,\N,\N,4/47,Benign,\N,intron_variant,0.648,0.1346,1KG_AFR_AF,COL4A4
471564,2:227987589:AT>A,NM_000092.4:c.193-1726del,\N,\N,4/47,Unknown significance,\N,intron_variant,2.6,\N,\N,COL4A4
471565,2:227987592:T>A,NM_000092.4:c.193-1728A>T,\N,\N,4/47,Benign,\N,intron_variant,0.376,0.005,1KG_EUR_AF,COL4A4
471566,2:227987605:G>C,NM_000092.4:c.193-1741C>G,\N,\N,4/47,Benign,\N,intron_variant,0.405,0.0378,1KG_AFR_AF,COL4A4
471567,2:227987613:C>G,NM_000092.4:c.193-1749G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.804,\N,\N,COL4A4
471568,2:227987642:G>A,NM_000092.4:c.193-1778C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.235,\N,\N,COL4A4
471569,2:227987647:C>T,NM_000092.4:c.193-1783G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.802,\N,\N,COL4A4
471570,2:227987648:G>A,NM_000092.4:c.193-1784C>T,\N,\N,4/47,Benign,\N,intron_variant,0.142,0.0793,1KG_AMR_AF,COL4A4
471571,2:227987649:C>T,NM_000092.4:c.193-1785G>A,\N,\N,4/47,Benign,\N,intron_variant,0.258,0.0151,1KG_AFR_AF,COL4A4
471572,2:227987650:G>A,NM_000092.4:c.193-1786C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.027,\N,\N,COL4A4
471573,2:227987701:C>T,NM_000092.4:c.193-1837G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,7.294,0.001,1KG_SAS_AF,COL4A4
471574,2:227987715:G>T,NM_000092.4:c.193-1851C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.029,\N,\N,COL4A4
471575,2:227987751:T>C,NM_000092.4:c.193-1887A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.479,0.0008,1KG_AFR_AF,COL4A4
471576,2:227987773:G>A,NM_000092.4:c.193-1909C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.646,\N,\N,COL4A4
471577,2:227987789:C>T,NM_000092.4:c.193-1925G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.125,0.0015,1KG_AFR_AF,COL4A4
471578,2:227987823:C>T,NM_000092.4:c.193-1959G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.169,\N,\N,COL4A4
471579,2:227987848:C>T,NM_000092.4:c.193-1984G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.904,\N,\N,COL4A4
471580,2:227987854:T>C,NM_000092.4:c.193-1990A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.345,\N,\N,COL4A4
471581,2:227987880:G>A,NM_000092.4:c.193-2016C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.463,\N,\N,COL4A4
471582,2:227987897:A>T,NM_000092.4:c.193-2033T>A,\N,\N,4/47,Benign,\N,intron_variant,10.45,0.0069,1KG_EAS_AF,COL4A4
471583,2:227987941:TG>T,NM_000092.4:c.193-2078del,\N,\N,4/47,Benign,\N,intron_variant,0.008,0.0356,1KG_AFR_AF,COL4A4
471584,2:227987945:G>T,NM_000092.4:c.193-2081C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.608,0.001,1KG_SAS_AF,COL4A4
471585,2:227987982:A>G,NM_000092.4:c.193-2118T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.875,\N,\N,COL4A4
471586,2:227987991:T>C,NM_000092.4:c.193-2127A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.994,\N,\N,COL4A4
471587,2:227988011:C>T,NM_000092.4:c.193-2147G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.455,0.001,1KG_SAS_AF,COL4A4
471588,2:227988012:G>A,NM_000092.4:c.193-2148C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.655,\N,\N,COL4A4
471589,2:227988016:A>G,NM_000092.4:c.193-2152T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.69,\N,\N,COL4A4
471590,2:227988021:C>T,NM_000092.4:c.193-2157G>A,\N,\N,4/47,Benign,\N,intron_variant,0.357,0.0212,1KG_AFR_AF,COL4A4
471591,2:227988033:C>T,NM_000092.4:c.193-2169G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.765,\N,\N,COL4A4
471592,2:227988057:T>C,NM_000092.4:c.193-2193A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,5.024,\N,\N,COL4A4
471593,2:227988064:C>A,NM_000092.4:c.193-2200G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.771,0.001,1KG_EAS_AF,COL4A4
471594,2:227988096:T>C,NM_000092.4:c.193-2232A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.681,0.0029,1KG_AMR_AF,COL4A4
471595,2:227988104:G>A,NM_000092.4:c.193-2240C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.072,\N,\N,COL4A4
471596,2:227988181:C>A,NM_000092.4:c.193-2317G>T,\N,\N,4/47,Benign,\N,intron_variant,0.755,0.0166,1KG_AFR_AF,COL4A4
471597,2:227988193:G>A,NM_000092.4:c.193-2329C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.139,\N,\N,COL4A4
471598,2:227988201:C>T,NM_000092.4:c.193-2337G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.394,0.0014,1KG_AMR_AF,COL4A4
471599,2:227988208:G>A,NM_000092.4:c.193-2344C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.211,\N,\N,COL4A4
471600,2:227988240:A>C,NM_000092.4:c.193-2376T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.062,0.001,1KG_EAS_AF,COL4A4
471601,2:227988279:G>A,NM_000092.4:c.193-2415C>T,\N,\N,4/47,Benign,\N,intron_variant,5.077,0.0061,1KG_AFR_AF,COL4A4
471602,2:227988300:C>T,NM_000092.4:c.193-2436G>A,\N,\N,4/47,Benign,\N,intron_variant,3.459,0.0215,1KG_SAS_AF,COL4A4
471603,2:227988323:G>A,NM_000092.4:c.193-2459C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.988,\N,\N,COL4A4
471604,2:227988323:G>T,NM_000092.4:c.193-2459C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.186,\N,\N,COL4A4
471605,2:227988382:C>T,NM_000092.4:c.193-2518G>A,\N,\N,4/47,Benign,\N,intron_variant,2.505,0.007,1KG_EUR_AF,COL4A4
471606,2:227988386:G>A,NM_000092.4:c.193-2522C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.89,0.001,1KG_SAS_AF,COL4A4
471607,2:227988397:T>A,NM_000092.4:c.193-2533A>T,\N,\N,4/47,Benign,\N,intron_variant,4.437,0.9039,1KG_AFR_AF,COL4A4
471608,2:227988417:A>G,NM_000092.4:c.193-2553T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.232,\N,\N,COL4A4
471609,2:227988427:C>CT,NM_000092.4:c.193-2564dup,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471610,2:227988476:G>A,NM_000092.4:c.193-2612C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.953,\N,\N,COL4A4
471611,2:227988495:C>T,NM_000092.4:c.193-2631G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.037,0.001,1KG_EAS_AF|1KG_EUR_AF,COL4A4
471612,2:227988497:T>G,NM_000092.4:c.193-2633A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.679,\N,\N,COL4A4
471613,2:227988557:T>C,NM_000092.4:c.193-2693A>G,\N,\N,4/47,Benign,\N,intron_variant,1.13,0.0976,1KG_AFR_AF,COL4A4
471614,2:227988590:C>G,NM_000092.4:c.193-2726G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.071,\N,\N,COL4A4
471615,2:227988619:C>T,NM_000092.4:c.193-2755G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.713,\N,\N,COL4A4
471616,2:227988623:A>ACT,NM_000092.4:c.193-2761_193-2760dup,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471617,2:227988623:A>G,NM_000092.4:c.193-2759T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.597,0.001,1KG_EUR_AF,COL4A4
471618,2:227988624:C>T,NM_000092.4:c.193-2760G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.031,0.001,1KG_EUR_AF,COL4A4
471619,2:227988642:T>C,NM_000092.4:c.193-2778A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.8,0.002,1KG_SAS_AF,COL4A4
471620,2:227988732:T>C,NM_000092.4:c.193-2868A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.178,\N,\N,COL4A4
471621,2:227988736:A>C,NM_000092.4:c.193-2872T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.824,0.0008,1KG_AFR_AF,COL4A4
471622,2:227988768:T>G,NM_000092.4:c.193-2904A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.243,\N,\N,COL4A4
471623,2:227988772:T>C,NM_000092.4:c.193-2908A>G,\N,\N,4/47,Benign,\N,intron_variant,2.243,0.0605,1KG_AFR_AF,COL4A4
471624,2:227988821:A>G,NM_000092.4:c.193-2957T>C,\N,\N,4/47,Benign,\N,intron_variant,1.843,0.006,1KG_EAS_AF,COL4A4
471625,2:227988827:T>C,NM_000092.4:c.193-2963A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,3.359,0.0008,1KG_AFR_AF,COL4A4
471626,2:227988944:A>G,NM_000092.4:c.193-3080T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.596,0.0008,1KG_AFR_AF,COL4A4
471627,2:227988947:A>C,NM_000092.4:c.193-3083T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.34,\N,\N,COL4A4
471628,2:227988966:C>T,NM_000092.4:c.193-3102G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.055,\N,\N,COL4A4
471629,2:227989036:A>G,NM_000092.4:c.193-3172T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.995,0.002,1KG_EUR_AF,COL4A4
471630,2:227989088:T>C,NM_000092.4:c.193-3224A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.641,0.003,1KG_AFR_AF,COL4A4
471631,2:227989111:A>G,NM_000092.4:c.193-3247T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.779,0.0043,1KG_AMR_AF,COL4A4
471632,2:227989126:T>G,NM_000092.4:c.193-3262A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.394,\N,\N,COL4A4
471633,2:227989152:T>C,NM_000092.4:c.193-3288A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.636,\N,\N,COL4A4
471634,2:227989160:C>A,NM_000092.4:c.193-3296G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,6.085,0.001,1KG_EUR_AF,COL4A4
471635,2:227989177:A>G,NM_000092.4:c.193-3313T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,7.382,\N,\N,COL4A4
471636,2:227989190:A>G,NM_000092.4:c.193-3326T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.972,\N,\N,COL4A4
471637,2:227989196:T>C,NM_000092.4:c.193-3332A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.491,0.0008,1KG_AFR_AF,COL4A4
471638,2:227989236:C>G,NM_000092.4:c.193-3372G>C,\N,\N,4/47,Benign,\N,intron_variant,2.116,0.0136,1KG_AFR_AF,COL4A4
471639,2:227989269:A>G,NM_000092.4:c.193-3405T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.75,0.001,1KG_SAS_AF,COL4A4
471640,2:227989285:C>T,NM_000092.4:c.193-3421G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,15.38,\N,\N,COL4A4
471641,2:227989312:CATAAAT>C,NM_000092.4:c.193-3454_193-3449del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471642,2:227989355:G>A,NM_000092.4:c.193-3491C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.279,0.0008,1KG_AFR_AF,COL4A4
471643,2:227989362:C>T,NM_000092.4:c.193-3498G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.572,0.0029,1KG_AMR_AF,COL4A4
471644,2:227989363:G>A,NM_000092.4:c.193-3499C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.341,0.001,1KG_EUR_AF,COL4A4
471645,2:227989374:C>T,NM_000092.4:c.193-3510G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,9.133,0.001,1KG_SAS_AF,COL4A4
471646,2:227989378:T>C,NM_000092.4:c.193-3514A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,6.948,\N,\N,COL4A4
471647,2:227989436:C>T,NM_000092.4:c.193-3572G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.879,0.002,1KG_EAS_AF,COL4A4
471648,2:227989437:G>A,NM_000092.4:c.193-3573C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.514,\N,\N,COL4A4
471649,2:227989453:C>T,NM_000092.4:c.193-3589G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.679,0.0008,1KG_AFR_AF,COL4A4
471650,2:227989459:A>G,NM_000092.4:c.193-3595T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.021,0.0041,1KG_SAS_AF,COL4A4
471651,2:227989480:G>A,NM_000092.4:c.193-3616C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.72,0.001,1KG_SAS_AF,COL4A4
471652,2:227989495:G>C,NM_000092.4:c.193-3631C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.091,0.001,1KG_EAS_AF,COL4A4
471653,2:227989576:G>A,NM_000092.4:c.193-3712C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.107,0.001,1KG_EAS_AF,COL4A4
471654,2:227989578:T>C,NM_000092.4:c.193-3714A>G,\N,\N,4/47,Benign,\N,intron_variant,3.513,0.0378,1KG_AFR_AF,COL4A4
471655,2:227989580:G>A,NM_000092.4:c.193-3716C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.16,\N,\N,COL4A4
471656,2:227989581:G>T,NM_000092.4:c.193-3717C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.532,\N,\N,COL4A4
471657,2:227989583:A>T,NM_000092.4:c.193-3719T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.33,\N,\N,COL4A4
471658,2:227989645:G>A,NM_000092.4:c.193-3781C>T,\N,\N,4/47,Benign,\N,intron_variant,12.84,0.0151,1KG_AFR_AF,COL4A4
471659,2:227989770:G>A,NM_000092.4:c.193-3906C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.789,\N,\N,COL4A4
471660,2:227989825:C>T,NM_000092.4:c.193-3961G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.12,0.001,1KG_SAS_AF,COL4A4
471661,2:227989826:G>A,NM_000092.4:c.193-3962C>T,\N,\N,4/47,Benign,\N,intron_variant,0.286,0.034,1KG_AFR_AF,COL4A4
471662,2:227989872:G>C,NM_000092.4:c.193-4008C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.06,0.001,1KG_EUR_AF,COL4A4
471663,2:227989876:A>G,NM_000092.4:c.193-4012T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.103,\N,\N,COL4A4
471664,2:227989881:C>T,NM_000092.4:c.193-4017G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.523,\N,\N,COL4A4
471665,2:227989884:G>A,NM_000092.4:c.193-4020C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.401,\N,\N,COL4A4
471666,2:227989913:T>C,NM_000092.4:c.193-4049A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.136,0.0014,1KG_AMR_AF,COL4A4
471667,2:227989923:T>A,NM_000092.4:c.193-4059A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.147,0.0014,1KG_AMR_AF,COL4A4
471668,2:227989955:G>A,NM_000092.4:c.193-4091C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.061,\N,\N,COL4A4
471669,2:227989976:T>A,NM_000092.4:c.193-4112A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.175,\N,\N,COL4A4
471670,2:227990027:G>T,NM_000092.4:c.193-4163C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.555,\N,\N,COL4A4
471671,2:227990035:T>C,NM_000092.4:c.193-4171A>G,\N,\N,4/47,Benign,\N,intron_variant,5.259,0.1331,1KG_AFR_AF,COL4A4
471672,2:227990038:C>T,NM_000092.4:c.193-4174G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.988,0.0008,1KG_AFR_AF,COL4A4
471673,2:227990051:C>T,NM_000092.4:c.193-4187G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.66,0.001,1KG_EUR_AF,COL4A4
471674,2:227990060:G>A,NM_000092.4:c.193-4196C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.603,0.0008,1KG_AFR_AF,COL4A4
471675,2:227990070:G>A,NM_000092.4:c.193-4206C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.241,\N,\N,COL4A4
471676,2:227990071:C>T,NM_000092.4:c.193-4207G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.053,\N,\N,COL4A4
471677,2:227990072:G>C,NM_000092.4:c.193-4208C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.217,0.0008,1KG_AFR_AF,COL4A4
471678,2:227990074:G>A,NM_000092.4:c.193-4210C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.327,0.002,1KG_EAS_AF,COL4A4
471679,2:227990082:A>G,NM_000092.4:c.193-4218T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.051,\N,\N,COL4A4
471680,2:227990085:C>T,NM_000092.4:c.193-4221G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.391,0.0014,1KG_AMR_AF,COL4A4
471681,2:227990145:G>A,NM_000092.4:c.193-4281C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.019,\N,\N,COL4A4
471682,2:227990233:A>G,NM_000092.4:c.193-4369T>C,\N,\N,4/47,Benign,\N,intron_variant,1.161,0.0298,1KG_EUR_AF,COL4A4
471683,2:227990245:G>GA,NM_000092.4:c.193-4382dup,\N,\N,4/47,Unknown significance,\N,intron_variant,0.639,\N,\N,COL4A4
471684,2:227990258:T>G,NM_000092.4:c.193-4394A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.979,0.0029,1KG_AMR_AF,COL4A4
471685,2:227990280:C>T,NM_000092.4:c.193-4416G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.206,0.001,1KG_EAS_AF,COL4A4
471686,2:227990285:T>C,NM_000092.4:c.193-4421A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.443,0.001,1KG_EAS_AF,COL4A4
471687,2:227990319:C>T,NM_000092.4:c.193-4455G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.574,\N,\N,COL4A4
471688,2:227990359:G>C,NM_000092.4:c.193-4495C>G,\N,\N,4/47,Benign,\N,intron_variant,1.655,0.034,1KG_AFR_AF,COL4A4
471689,2:227990362:T>G,NM_000092.4:c.193-4498A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.631,0.0041,1KG_SAS_AF,COL4A4
471690,2:227990369:C>G,NM_000092.4:c.193-4505G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.169,0.0008,1KG_AFR_AF,COL4A4
471691,2:227990373:C>T,NM_000092.4:c.193-4509G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.065,0.004,1KG_EUR_AF,COL4A4
471692,2:227990399:G>A,NM_000092.4:c.193-4535C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.813,0.0029,1KG_AMR_AF,COL4A4
471693,2:227990413:G>A,NM_000092.4:c.193-4549C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.174,0.0008,1KG_AFR_AF,COL4A4
471694,2:227990419:G>A,NM_000092.4:c.193-4555C>T,\N,\N,4/47,Benign,\N,intron_variant,4.343,0.0069,1KG_EAS_AF,COL4A4
471695,2:227990452:A>G,NM_000092.4:c.193-4588T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.784,0.0041,1KG_SAS_AF,COL4A4
471696,2:227990486:C>T,NM_000092.4:c.193-4622G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,7.019,0.002,1KG_EAS_AF,COL4A4
471697,2:227990494:C>G,NM_000092.4:c.193-4630G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.895,0.0014,1KG_AMR_AF,COL4A4
471698,2:227990537:T>A,NM_000092.4:c.193-4673A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.576,\N,\N,COL4A4
471699,2:227990544:C>A,NM_000092.4:c.193-4680G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.094,\N,\N,COL4A4
471700,2:227990560:T>C,NM_000092.4:c.193-4696A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.83,0.0008,1KG_AFR_AF,COL4A4
471701,2:227990610:T>C,NM_000092.4:c.193-4746A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.781,0.002,1KG_SAS_AF,COL4A4
471702,2:227990624:G>A,NM_000092.4:c.193-4760C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.675,0.001,1KG_SAS_AF,COL4A4
471703,2:227990638:A>G,NM_000092.4:c.193-4774T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.226,0.001,1KG_SAS_AF,COL4A4
471704,2:227990646:G>C,NM_000092.4:c.193-4782C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.115,\N,\N,COL4A4
471705,2:227990671:A>C,NM_000092.4:c.193-4807T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.033,0.001,1KG_SAS_AF,COL4A4
471706,2:227990725:G>A,NM_000092.4:c.193-4861C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.272,0.001,1KG_EUR_AF,COL4A4
471707,2:227990734:T>C,NM_000092.4:c.193-4870A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.534,0.0015,1KG_AFR_AF,COL4A4
471708,2:227990741:G>C,NM_000092.4:c.193-4877C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.071,\N,\N,COL4A4
471709,2:227990742:G>C,NM_000092.4:c.193-4878C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.115,0.0008,1KG_AFR_AF,COL4A4
471710,2:227990763:C>A,NM_000092.4:c.193-4899G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.689,0.0015,1KG_AFR_AF,COL4A4
471711,2:227990765:G>A,NM_000092.4:c.193-4901C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.438,\N,\N,COL4A4
471712,2:227990784:C>T,NM_000092.4:c.193-4920G>A,\N,\N,4/47,Benign,\N,intron_variant,0.418,0.4205,1KG_EUR_AF,COL4A4
471713,2:227990785:G>A,NM_000092.4:c.193-4921C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.255,0.0008,1KG_AFR_AF,COL4A4
471714,2:227990791:C>G,NM_000092.4:c.193-4927G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.367,0.0014,1KG_AMR_AF,COL4A4
471715,2:227990840:A>G,NM_000092.4:c.193-4976T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,10.17,\N,\N,COL4A4
471716,2:227990849:A>AG,NM_000092.4:c.193-4986_193-4985insC,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471717,2:227990852:G>A,NM_000092.4:c.193-4988C>T,\N,\N,4/47,Benign,\N,intron_variant,1.248,0.034,1KG_AFR_AF,COL4A4
471718,2:227990859:G>T,NM_000092.4:c.193-4995C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.161,\N,\N,COL4A4
471719,2:227990877:G>T,NM_000092.4:c.193-5013C>A,\N,\N,4/47,Benign,\N,intron_variant,0.63,0.034,1KG_AFR_AF,COL4A4
471720,2:227990903:T>G,NM_000092.4:c.193-5039A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.992,0.0014,1KG_AMR_AF,COL4A4
471721,2:227990914:G>A,NM_000092.4:c.193-5050C>T,\N,\N,4/47,Benign,\N,intron_variant,3.806,0.4205,1KG_EUR_AF,COL4A4
471722,2:227990918:G>T,NM_000092.4:c.193-5054C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.085,0.001,1KG_SAS_AF,COL4A4
471723,2:227990939:G>A,NM_000092.4:c.193-5075C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.113,0.0014,1KG_AMR_AF,COL4A4
471724,2:227990955:G>A,NM_000092.4:c.193-5091C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.023,0.0014,1KG_AMR_AF,COL4A4
471725,2:227991014:C>T,NM_000092.4:c.193-5150G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.906,\N,\N,COL4A4
471726,2:227991017:A>G,NM_000092.4:c.193-5153T>C,\N,\N,4/47,Benign,\N,intron_variant,0.233,0.0348,1KG_SAS_AF,COL4A4
471727,2:227991053:G>T,NM_000092.4:c.193-5189C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.965,\N,\N,COL4A4
471728,2:227991073:A>G,NM_000092.4:c.193-5209T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.351,0.0015,1KG_AFR_AF,COL4A4
471729,2:227991096:T>C,NM_000092.4:c.193-5232A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.834,0.0014,1KG_AMR_AF,COL4A4
471730,2:227991137:A>G,NM_000092.4:c.193-5273T>C,\N,\N,4/47,Benign,\N,intron_variant,0.084,0.0061,1KG_SAS_AF,COL4A4
471731,2:227991139:C>T,NM_000092.4:c.193-5275G>A,\N,\N,4/47,Benign,\N,intron_variant,2.85,0.0991,1KG_AFR_AF,COL4A4
471732,2:227991147:C>T,NM_000092.4:c.193-5283G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.208,0.002,1KG_SAS_AF,COL4A4
471733,2:227991221:C>T,NM_000092.4:c.193-5357G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.692,\N,\N,COL4A4
471734,2:227991233:C>A,NM_000092.4:c.193-5369G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,7.179,0.004,1KG_EAS_AF,COL4A4
471735,2:227991235:T>C,NM_000092.4:c.193-5371A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.215,\N,\N,COL4A4
471736,2:227991244:G>T,NM_000092.4:c.193-5380C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.702,\N,\N,COL4A4
471737,2:227991281:C>T,NM_000092.4:c.193-5417G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.332,\N,\N,COL4A4
471738,2:227991336:G>A,NM_000092.4:c.193-5472C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.183,\N,\N,COL4A4
471739,2:227991447:C>T,NM_000092.4:c.193-5583G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.982,\N,\N,COL4A4
471740,2:227991448:C>T,NM_000092.4:c.193-5584G>A,\N,\N,4/47,Benign,\N,intron_variant,6.471,0.0308,1KG_EUR_AF,COL4A4
471741,2:227991463:T>C,NM_000092.4:c.193-5599A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,7.357,0.003,1KG_EAS_AF,COL4A4
471742,2:227991513:A>G,NM_000092.4:c.193-5649T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.122,0.0008,1KG_AFR_AF,COL4A4
471743,2:227991556:A>G,NM_000092.4:c.193-5692T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.676,0.0015,1KG_AFR_AF,COL4A4
471744,2:227991576:G>T,NM_000092.4:c.193-5712C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.624,0.001,1KG_SAS_AF,COL4A4
471745,2:227991597:T>C,NM_000092.4:c.193-5733A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,3.494,0.001,1KG_SAS_AF,COL4A4
471746,2:227991599:T>C,NM_000092.4:c.193-5735A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.042,0.0008,1KG_AFR_AF,COL4A4
471747,2:227991605:C>CT,NM_000092.4:c.193-5742dup,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471748,2:227991631:A>G,NM_000092.4:c.193-5767T>C,\N,\N,4/47,Benign,\N,intron_variant,1.656,0.2201,1KG_AFR_AF,COL4A4
471749,2:227991655:T>G,NM_000092.4:c.193-5791A>C,\N,\N,4/47,Benign,\N,intron_variant,4.286,0.0598,1KG_AFR_AF,COL4A4
471750,2:227991684:A>G,NM_000092.4:c.193-5820T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,16.73,0.001,1KG_SAS_AF,COL4A4
471751,2:227991698:A>G,NM_000092.4:c.193-5834T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,15.9,\N,\N,COL4A4
471752,2:227991707:T>A,NM_000092.4:c.193-5843A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,14.33,0.0008,1KG_AFR_AF,COL4A4
471753,2:227991720:G>A,NM_000092.4:c.193-5856C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.991,\N,\N,COL4A4
471754,2:227991755:C>A,NM_000092.4:c.193-5891G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.215,0.0014,1KG_AMR_AF,COL4A4
471755,2:227991872:G>C,NM_000092.4:c.193-6008C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.465,0.0015,1KG_AFR_AF,COL4A4
471756,2:227991887:T>C,NM_000092.4:c.193-6023A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,5.084,\N,\N,COL4A4
471757,2:227991890:G>GT,NM_000092.4:c.193-6027dup,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471758,2:227991902:A>G,NM_000092.4:c.193-6038T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.56,\N,\N,COL4A4
471759,2:227991903:C>T,NM_000092.4:c.193-6039G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.349,0.0008,1KG_AFR_AF,COL4A4
471760,2:227991904:G>A,NM_000092.4:c.193-6040C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.599,0.001,1KG_SAS_AF,COL4A4
471761,2:227991907:C>T,NM_000092.4:c.193-6043G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.501,\N,\N,COL4A4
471762,2:227991951:G>A,NM_000092.4:c.193-6087C>T,\N,\N,4/47,Benign,\N,intron_variant,12.32,0.4215,1KG_EUR_AF,COL4A4
471763,2:227992011:G>A,NM_000092.4:c.193-6147C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,17.66,\N,\N,COL4A4
471764,2:227992019:A>G,NM_000092.4:c.193-6155T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,16.55,0.0023,1KG_AFR_AF,COL4A4
471765,2:227992027:T>G,NM_000092.4:c.193-6163A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,8.654,\N,\N,COL4A4
471766,2:227992052:G>A,NM_000092.4:c.193-6188C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.998,0.0008,1KG_AFR_AF,COL4A4
471767,2:227992065:C>T,NM_000092.4:c.193-6201G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.877,0.0008,1KG_AFR_AF,COL4A4
471768,2:227992116:G>A,NM_000092.4:c.193-6252C>T,\N,\N,4/47,Benign,\N,intron_variant,0.144,0.4205,1KG_EUR_AF,COL4A4
471769,2:227992117:G>A,NM_000092.4:c.193-6253C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.653,\N,\N,COL4A4
471770,2:227992205:A>C,NM_000092.4:c.193-6341T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,19.12,\N,\N,COL4A4
471771,2:227992271:C>T,NM_000092.4:c.193-6407G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,11.23,0.001,1KG_EUR_AF,COL4A4
471772,2:227992334:T>C,NM_000092.4:c.193-6470A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.229,\N,\N,COL4A4
471773,2:227992340:C>A,NM_000092.4:c.193-6476G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,10.52,0.0023,1KG_AFR_AF,COL4A4
471774,2:227992384:G>T,NM_000092.4:c.193-6520C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.639,\N,\N,COL4A4
471775,2:227992385:C>T,NM_000092.4:c.193-6521G>A,\N,\N,4/47,Benign,\N,intron_variant,4.645,0.4215,1KG_EUR_AF,COL4A4
471776,2:227992401:A>T,NM_000092.4:c.193-6537T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.234,0.0015,1KG_AFR_AF,COL4A4
471777,2:227992415:A>G,NM_000092.4:c.193-6551T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,12.69,0.0031,1KG_SAS_AF,COL4A4
471778,2:227992431:G>A,NM_000092.4:c.193-6567C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.387,\N,\N,COL4A4
471779,2:227992448:T>C,NM_000092.4:c.193-6584A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,3.157,\N,\N,COL4A4
471780,2:227992500:C>T,NM_000092.4:c.193-6636G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.978,\N,\N,COL4A4
471781,2:227992506:T>C,NM_000092.4:c.193-6642A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.975,\N,\N,COL4A4
471782,2:227992531:T>C,NM_000092.4:c.193-6667A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.348,\N,\N,COL4A4
471783,2:227992545:G>T,NM_000092.4:c.193-6681C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.045,\N,\N,COL4A4
471784,2:227992594:A>C,NM_000092.4:c.193-6730T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.216,\N,\N,COL4A4
471785,2:227992594:A>T,NM_000092.4:c.193-6730T>A,\N,\N,4/47,Benign,\N,intron_variant,0.308,0.4205,1KG_EUR_AF,COL4A4
471786,2:227992685:T>C,NM_000092.4:c.193-6821A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.43,0.001,1KG_EAS_AF|1KG_SAS_AF,COL4A4
471787,2:227992686:A>C,NM_000092.4:c.193-6822T>G,\N,\N,4/47,Benign,\N,intron_variant,0.491,0.999,1KG_EAS_AF,COL4A4
471788,2:227992697:C>T,NM_000092.4:c.193-6833G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.549,0.0031,1KG_SAS_AF,COL4A4
471789,2:227992742:G>A,NM_000092.4:c.193-6878C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.044,0.0014,1KG_AMR_AF,COL4A4
471790,2:227992743:T>C,NM_000092.4:c.193-6879A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.261,0.002,1KG_EAS_AF,COL4A4
471791,2:227992749:C>T,NM_000092.4:c.193-6885G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.173,0.002,1KG_SAS_AF,COL4A4
471792,2:227992758:A>G,NM_000092.4:c.193-6894T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.596,0.001,1KG_EUR_AF,COL4A4
471793,2:227992783:A>G,NM_000092.4:c.193-6919T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.249,\N,\N,COL4A4
471794,2:227992832:T>C,NM_000092.4:c.193-6968A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.651,\N,\N,COL4A4
471795,2:227992847:C>T,NM_000092.4:c.193-6983G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.318,0.001,1KG_SAS_AF,COL4A4
471796,2:227992849:C>G,NM_000092.4:c.193-6985G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.195,0.001,1KG_SAS_AF,COL4A4
471797,2:227992904:C>G,NM_000092.4:c.193-7040G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.274,0.0008,1KG_AFR_AF,COL4A4
471798,2:227992909:C>T,NM_000092.4:c.193-7045G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.253,0.001,1KG_EAS_AF,COL4A4
471799,2:227992913:T>C,NM_000092.4:c.193-7049A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.066,0.0041,1KG_SAS_AF,COL4A4
471800,2:227992927:C>A,NM_000092.4:c.193-7063G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.628,0.0008,1KG_AFR_AF,COL4A4
471801,2:227992982:G>A,NM_000092.4:c.193-7118C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.021,\N,\N,COL4A4
471802,2:227992989:C>T,NM_000092.4:c.193-7125G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.924,\N,\N,COL4A4
471803,2:227993023:C>T,NM_000092.4:c.193-7159G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.335,\N,\N,COL4A4
471804,2:227993059:C>A,NM_000092.4:c.193-7195G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.99,\N,\N,COL4A4
471805,2:227993082:A>G,NM_000092.4:c.193-7218T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.294,\N,\N,COL4A4
471806,2:227993087:G>C,NM_000092.4:c.193-7223C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.221,0.001,1KG_EUR_AF,COL4A4
471807,2:227993098:A>C,NM_000092.4:c.193-7234T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.897,0.0008,1KG_AFR_AF,COL4A4
471808,2:227993111:C>T,NM_000092.4:c.193-7247G>A,\N,\N,4/47,Benign,\N,intron_variant,0.98,0.0174,1KG_AFR_AF,COL4A4
471809,2:227993112:C>T,NM_000092.4:c.193-7248G>A,\N,\N,4/47,Benign,\N,intron_variant,3.701,0.0082,1KG_SAS_AF,COL4A4
471810,2:227993133:A>G,NM_000092.4:c.193-7269T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,5.549,\N,\N,COL4A4
471811,2:227993137:T>C,NM_000092.4:c.193-7273A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.912,\N,\N,COL4A4
471812,2:227993143:T>C,NM_000092.4:c.193-7279A>G,\N,\N,4/47,Benign,\N,intron_variant,0.287,0.0613,1KG_AFR_AF,COL4A4
471813,2:227993150:C>T,NM_000092.4:c.193-7286G>A,\N,\N,4/47,Benign,\N,intron_variant,0.235,0.0072,1KG_SAS_AF,COL4A4
471814,2:227993158:T>C,NM_000092.4:c.193-7294A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.771,0.0041,1KG_SAS_AF,COL4A4
471815,2:227993166:A>G,NM_000092.4:c.193-7302T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.335,\N,\N,COL4A4
471816,2:227993253:C>T,NM_000092.4:c.193-7389G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,8.998,0.001,1KG_SAS_AF,COL4A4
471817,2:227993306:G>A,NM_000092.4:c.193-7442C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.011,0.002,1KG_EAS_AF,COL4A4
471818,2:227993333:T>G,NM_000092.4:c.193-7469A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.225,0.0008,1KG_AFR_AF,COL4A4
471819,2:227993373:A>G,NM_000092.4:c.193-7509T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.206,\N,\N,COL4A4
471820,2:227993378:A>T,NM_000092.4:c.193-7514T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.389,\N,\N,COL4A4
471821,2:227993422:C>T,NM_000092.4:c.193-7558G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.42,0.0008,1KG_AFR_AF,COL4A4
471822,2:227993461:A>G,NM_000092.4:c.193-7597T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.393,0.002,1KG_SAS_AF,COL4A4
471823,2:227993468:G>A,NM_000092.4:c.193-7604C>T,\N,\N,4/47,Benign,\N,intron_variant,1.412,0.2982,1KG_EUR_AF,COL4A4
471824,2:227993470:A>G,NM_000092.4:c.193-7606T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.154,\N,\N,COL4A4
471825,2:227993498:G>A,NM_000092.4:c.193-7634C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.409,0.0015,1KG_AFR_AF,COL4A4
471826,2:227993521:C>T,NM_000092.4:c.193-7657G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.521,\N,\N,COL4A4
471827,2:227993534:G>A,NM_000092.4:c.193-7670C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.538,0.0014,1KG_AMR_AF,COL4A4
471828,2:227993544:A>G,NM_000092.4:c.193-7680T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.518,\N,\N,COL4A4
471829,2:227993608:A>C,NM_000092.4:c.193-7744T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.061,0.0008,1KG_AFR_AF,COL4A4
471830,2:227993619:C>T,NM_000092.4:c.193-7755G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.545,\N,\N,COL4A4
471831,2:227993620:G>A,NM_000092.4:c.193-7756C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.751,\N,\N,COL4A4
471832,2:227993662:C>T,NM_000092.4:c.193-7798G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.612,\N,\N,COL4A4
471833,2:227993683:G>C,NM_000092.4:c.193-7819C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.499,0.001,1KG_EAS_AF,COL4A4
471834,2:227993688:C>T,NM_000092.4:c.193-7824G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.649,0.0008,1KG_AFR_AF,COL4A4
471835,2:227993712:T>C,NM_000092.4:c.193-7848A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,7.082,\N,\N,COL4A4
471836,2:227993721:C>T,NM_000092.4:c.193-7857G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,6.17,\N,\N,COL4A4
471837,2:227993731:G>C,NM_000092.4:c.193-7867C>G,\N,\N,4/47,Benign,\N,intron_variant,3.388,0.2201,1KG_AFR_AF,COL4A4
471838,2:227993746:A>G,NM_000092.4:c.193-7882T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.957,0.004,1KG_EUR_AF,COL4A4
471839,2:227993750:T>A,NM_000092.4:c.193-7886A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.224,\N,\N,COL4A4
471840,2:227993763:G>A,NM_000092.4:c.193-7899C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.916,\N,\N,COL4A4
471841,2:227993803:A>G,NM_000092.4:c.193-7939T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.841,0.0008,1KG_AFR_AF,COL4A4
471842,2:227993824:T>G,NM_000092.4:c.193-7960A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,6.702,0.001,1KG_EAS_AF,COL4A4
471843,2:227993840:C>T,NM_000092.4:c.193-7976G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,8.16,0.003,1KG_EUR_AF,COL4A4
471844,2:227993850:T>C,NM_000092.4:c.193-7986A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.579,\N,\N,COL4A4
471845,2:227993868:C>T,NM_000092.4:c.193-8004G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.867,0.0015,1KG_AFR_AF,COL4A4
471846,2:227993922:G>A,NM_000092.4:c.193-8058C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.553,\N,\N,COL4A4
471847,2:227993937:G>A,NM_000092.4:c.193-8073C>T,\N,\N,4/47,Benign,\N,intron_variant,1.954,0.4155,1KG_EUR_AF,COL4A4
471848,2:227994000:C>G,NM_000092.4:c.193-8136G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.726,0.002,1KG_SAS_AF,COL4A4
471849,2:227994000:C>T,NM_000092.4:c.193-8136G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.701,\N,\N,COL4A4
471850,2:227994018:T>A,NM_000092.4:c.193-8154A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.301,0.001,1KG_EUR_AF,COL4A4
471851,2:227994047:A>T,NM_000092.4:c.193-8183T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.013,0.004,1KG_EAS_AF,COL4A4
471852,2:227994048:C>T,NM_000092.4:c.193-8184G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.661,\N,\N,COL4A4
471853,2:227994049:G>A,NM_000092.4:c.193-8185C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.524,0.001,1KG_EAS_AF,COL4A4
471854,2:227994066:A>G,NM_000092.4:c.193-8202T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.455,\N,\N,COL4A4
471855,2:227994086:A>G,NM_000092.4:c.193-8222T>C,\N,\N,4/47,Benign,\N,intron_variant,2.414,0.0556,1KG_EAS_AF,COL4A4
471856,2:227994097:T>C,NM_000092.4:c.193-8233A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.108,\N,\N,COL4A4
471857,2:227994099:T>G,NM_000092.4:c.193-8235A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.175,0.002,1KG_SAS_AF,COL4A4
471858,2:227994127:C>CT,NM_000092.4:c.193-8264dup,\N,\N,4/47,Unknown significance,\N,intron_variant,0.07,\N,\N,COL4A4
471859,2:227994148:C>A,NM_000092.4:c.193-8284G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.333,\N,\N,COL4A4
471860,2:227994160:C>G,NM_000092.4:c.193-8296G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.854,0.0014,1KG_AMR_AF,COL4A4
471861,2:227994227:C>T,NM_000092.4:c.193-8363G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.873,0.0041,1KG_SAS_AF,COL4A4
471862,2:227994243:G>A,NM_000092.4:c.193-8379C>T,\N,\N,4/47,Benign,\N,intron_variant,1.278,0.3899,1KG_EAS_AF,COL4A4
471863,2:227994269:C>T,NM_000092.4:c.193-8405G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.215,0.003,1KG_AFR_AF,COL4A4
471864,2:227994276:C>G,NM_000092.4:c.193-8412G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.209,\N,\N,COL4A4
471865,2:227994282:G>A,NM_000092.4:c.193-8418C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.08,\N,\N,COL4A4
471866,2:227994297:G>C,NM_000092.4:c.193-8433C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,5.231,0.001,1KG_SAS_AF,COL4A4
471867,2:227994313:T>C,NM_000092.4:c.193-8449A>G,\N,\N,4/47,Benign,\N,intron_variant,0.474,0.0076,1KG_AFR_AF,COL4A4
471868,2:227994326:T>C,NM_000092.4:c.193-8462A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.087,\N,\N,COL4A4
471869,2:227994329:T>A,NM_000092.4:c.193-8465A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.732,\N,\N,COL4A4
471870,2:227994344:C>T,NM_000092.4:c.193-8480G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.906,\N,\N,COL4A4
471871,2:227994345:G>A,NM_000092.4:c.193-8481C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.194,0.001,1KG_SAS_AF,COL4A4
471872,2:227994368:G>GC,NM_000092.4:c.193-8505dup,\N,\N,4/47,Unknown significance,\N,intron_variant,0.598,\N,\N,COL4A4
471873,2:227994396:A>G,NM_000092.4:c.193-8532T>C,\N,\N,4/47,Benign,\N,intron_variant,0.236,0.9894,1KG_AFR_AF,COL4A4
471874,2:227994417:G>A,NM_000092.4:c.193-8553C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.637,\N,\N,COL4A4
471875,2:227994427:TG>T,NM_000092.4:c.193-8564del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471876,2:227994483:T>C,NM_000092.4:c.193-8619A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.558,\N,\N,COL4A4
471877,2:227994493:T>G,NM_000092.4:c.193-8629A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.959,\N,\N,COL4A4
471878,2:227994496:T>C,NM_000092.4:c.193-8632A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.087,0.0023,1KG_AFR_AF,COL4A4
471879,2:227994533:C>T,NM_000092.4:c.193-8669G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.94,\N,\N,COL4A4
471880,2:227994601:TTA>T,NM_000092.4:c.193-8739_193-8738del,\N,\N,4/47,Benign,\N,intron_variant,7.793,0.0112,1KG_SAS_AF,COL4A4
471881,2:227994607:G>T,NM_000092.4:c.193-8743C>A,\N,\N,4/47,Benign,\N,intron_variant,0.757,0.0174,1KG_AFR_AF,COL4A4
471882,2:227994614:T>C,NM_000092.4:c.193-8750A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,4.468,0.0014,1KG_AMR_AF,COL4A4
471883,2:227994645:T>C,NM_000092.4:c.193-8781A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.904,0.0015,1KG_AFR_AF,COL4A4
471884,2:227994694:G>C,NM_000092.4:c.193-8830C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.359,0.002,1KG_EAS_AF,COL4A4
471885,2:227994702:C>T,NM_000092.4:c.193-8838G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,7.098,0.0015,1KG_AFR_AF,COL4A4
471886,2:227994712:C>G,NM_000092.4:c.193-8848G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,10.27,\N,\N,COL4A4
471887,2:227994727:C>T,NM_000092.4:c.193-8863G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.965,\N,\N,COL4A4
471888,2:227994741:G>A,NM_000092.4:c.193-8877C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.995,0.0008,1KG_AFR_AF,COL4A4
471889,2:227994742:T>C,NM_000092.4:c.193-8878A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.387,\N,\N,COL4A4
471890,2:227994747:C>T,NM_000092.4:c.193-8883G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.678,\N,\N,COL4A4
471891,2:227994751:G>A,NM_000092.4:c.193-8887C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.272,0.001,1KG_EAS_AF,COL4A4
471892,2:227994758:C>A,NM_000092.4:c.193-8894G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.354,0.001,1KG_EUR_AF,COL4A4
471893,2:227994820:G>A,NM_000092.4:c.193-8956C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.425,0.001,1KG_EUR_AF,COL4A4
471894,2:227994820:G>T,NM_000092.4:c.193-8956C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.143,\N,\N,COL4A4
471895,2:227994828:A>G,NM_000092.4:c.193-8964T>C,\N,\N,4/47,Benign,\N,intron_variant,4.317,0.4165,1KG_EUR_AF,COL4A4
471896,2:227994841:C>T,NM_000092.4:c.193-8977G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.202,0.003,1KG_AFR_AF,COL4A4
471897,2:227994873:C>A,NM_000092.4:c.193-9009G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,9.318,0.0008,1KG_AFR_AF,COL4A4
471898,2:227994886:G>A,NM_000092.4:c.193-9022C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.293,0.0031,1KG_SAS_AF,COL4A4
471899,2:227994892:G>A,NM_000092.4:c.193-9028C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.042,0.0008,1KG_AFR_AF,COL4A4
471900,2:227994895:C>T,NM_000092.4:c.193-9031G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.803,0.001,1KG_SAS_AF,COL4A4
471901,2:227994924:G>A,NM_000092.4:c.193-9060C>T,\N,\N,4/47,Benign,\N,intron_variant,2.151,0.2095,1KG_AFR_AF,COL4A4
471902,2:227994931:A>G,NM_000092.4:c.193-9067T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.7,\N,\N,COL4A4
471903,2:227994951:C>T,NM_000092.4:c.193-9087G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.163,\N,\N,COL4A4
471904,2:227994979:A>G,NM_000092.4:c.193-9115T>C,\N,\N,4/47,Benign,\N,intron_variant,3.907,0.0643,1KG_AFR_AF,COL4A4
471905,2:227995018:G>A,NM_000092.4:c.193-9154C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.592,0.0015,1KG_AFR_AF,COL4A4
471906,2:227995068:T>C,NM_000092.4:c.193-9204A>G,\N,\N,4/47,Benign,\N,intron_variant,2.143,0.4165,1KG_EUR_AF,COL4A4
471907,2:227995126:C>A,NM_000092.4:c.193-9262G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,4.474,\N,\N,COL4A4
471908,2:227995141:C>A,NM_000092.4:c.193-9277G>T,\N,\N,4/47,Benign,\N,intron_variant,1.598,0.0582,1KG_AFR_AF,COL4A4
471909,2:227995151:C>T,NM_000092.4:c.193-9287G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.594,0.001,1KG_SAS_AF,COL4A4
471910,2:227995179:T>G,NM_000092.4:c.193-9315A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.601,0.0008,1KG_AFR_AF,COL4A4
471911,2:227995216:G>A,NM_000092.4:c.193-9352C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.233,\N,\N,COL4A4
471912,2:227995242:C>T,NM_000092.4:c.193-9378G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,7.174,0.003,1KG_AFR_AF,COL4A4
471913,2:227995306:T>C,NM_000092.4:c.193-9442A>G,\N,\N,4/47,Benign,\N,intron_variant,2.637,0.0298,1KG_EUR_AF,COL4A4
471914,2:227995356:T>G,NM_000092.4:c.193-9492A>C,\N,\N,4/47,Benign,\N,intron_variant,4.188,0.4155,1KG_EUR_AF,COL4A4
471915,2:227995371:A>ACAGT,NM_000092.4:c.192+9505_192+9506insACTG,\N,\N,4/47,Benign,\N,intron_variant,0.558,0.4155,1KG_EUR_AF,COL4A4
471916,2:227995371:A>ATCAG,NM_000092.4:c.192+9505_192+9506insCTGA,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471917,2:227995375:A>T,NM_000092.4:c.192+9502T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.693,\N,\N,COL4A4
471918,2:227995382:C>T,NM_000092.4:c.192+9495G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.715,\N,\N,COL4A4
471919,2:227995386:G>A,NM_000092.4:c.192+9491C>T,\N,\N,4/47,Benign,\N,intron_variant,0.041,0.0628,1KG_AFR_AF,COL4A4
471920,2:227995391:C>T,NM_000092.4:c.192+9486G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.761,0.0015,1KG_AFR_AF,COL4A4
471921,2:227995400:C>G,NM_000092.4:c.192+9477G>C,\N,\N,4/47,Benign,\N,intron_variant,2.27,0.0643,1KG_AFR_AF,COL4A4
471922,2:227995435:C>T,NM_000092.4:c.192+9442G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.436,0.0008,1KG_AFR_AF,COL4A4
471923,2:227995450:G>A,NM_000092.4:c.192+9427C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.231,\N,\N,COL4A4
471924,2:227995453:G>C,NM_000092.4:c.192+9424C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.732,\N,\N,COL4A4
471925,2:227995467:G>C,NM_000092.4:c.192+9410C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.429,0.001,1KG_EUR_AF,COL4A4
471926,2:227995469:A>T,NM_000092.4:c.192+9408T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.234,0.001,1KG_EUR_AF,COL4A4
471927,2:227995474:T>C,NM_000092.4:c.192+9403A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.199,0.0015,1KG_AFR_AF,COL4A4
471928,2:227995480:C>T,NM_000092.4:c.192+9397G>A,\N,\N,4/47,Benign,\N,intron_variant,3.145,0.0998,1KG_AFR_AF,COL4A4
471929,2:227995490:G>A,NM_000092.4:c.192+9387C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.26,\N,\N,COL4A4
471930,2:227995503:G>A,NM_000092.4:c.192+9374C>T,\N,\N,4/47,Benign,\N,intron_variant,2.2,0.4105,1KG_EUR_AF,COL4A4
471931,2:227995509:C>T,NM_000092.4:c.192+9368G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.681,0.0008,1KG_AFR_AF,COL4A4
471932,2:227995528:T>C,NM_000092.4:c.192+9349A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.945,\N,\N,COL4A4
471933,2:227995548:C>T,NM_000092.4:c.192+9329G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.71,\N,\N,COL4A4
471934,2:227995552:T>C,NM_000092.4:c.192+9325A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.559,0.001,1KG_EUR_AF,COL4A4
471935,2:227995559:A>G,NM_000092.4:c.192+9318T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.579,\N,\N,COL4A4
471936,2:227995578:G>A,NM_000092.4:c.192+9299C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.164,0.0008,1KG_AFR_AF,COL4A4
471937,2:227995590:T>G,NM_000092.4:c.192+9287A>C,\N,\N,4/47,Benign,\N,intron_variant,8.542,0.034,1KG_AFR_AF,COL4A4
471938,2:227995591:C>T,NM_000092.4:c.192+9286G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,9.84,0.0008,1KG_AFR_AF,COL4A4
471939,2:227995592:C>T,NM_000092.4:c.192+9285G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,10.07,\N,\N,COL4A4
471940,2:227995601:A>G,NM_000092.4:c.192+9276T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,9.332,0.0008,1KG_AFR_AF,COL4A4
471941,2:227995610:G>A,NM_000092.4:c.192+9267C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,8.837,0.001,1KG_EAS_AF,COL4A4
471942,2:227995619:A>G,NM_000092.4:c.192+9258T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,6.124,\N,\N,COL4A4
471943,2:227995634:A>C,NM_000092.4:c.192+9243T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,2.074,0.001,1KG_EAS_AF,COL4A4
471944,2:227995634:A>G,NM_000092.4:c.192+9243T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.88,\N,\N,COL4A4
471945,2:227995660:C>T,NM_000092.4:c.192+9217G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.205,\N,\N,COL4A4
471946,2:227995682:C>T,NM_000092.4:c.192+9195G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.641,0.0043,1KG_AMR_AF,COL4A4
471947,2:227995753:A>G,NM_000092.4:c.192+9124T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.999,\N,\N,COL4A4
471948,2:227995787:A>G,NM_000092.4:c.192+9090T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.441,\N,\N,COL4A4
471949,2:227995802:C>T,NM_000092.4:c.192+9075G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.199,0.0015,1KG_AFR_AF,COL4A4
471950,2:227995838:T>G,NM_000092.4:c.192+9039A>C,\N,\N,4/47,Benign,\N,intron_variant,0.405,0.4155,1KG_EUR_AF,COL4A4
471951,2:227995845:A>C,NM_000092.4:c.192+9032T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.286,0.001,1KG_SAS_AF,COL4A4
471952,2:227995847:ATC>A,NM_000092.4:c.192+9028_192+9029del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471953,2:227995856:CT>C,NM_000092.4:c.192+9020del,\N,\N,4/47,Unknown significance,\N,intron_variant,2.283,\N,\N,COL4A4
471954,2:227995856:CTTTT>C,NM_000092.4:c.192+9017_192+9020del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471955,2:227995867:T>C,NM_000092.4:c.192+9010A>G,\N,\N,4/47,Benign,\N,intron_variant,0.035,0.4165,1KG_EUR_AF,COL4A4
471956,2:227995867:T>TC,NM_000092.4:c.192+9009_192+9010insG,\N,\N,4/47,Unknown significance,\N,intron_variant,0.182,\N,\N,COL4A4
471957,2:227995879:C>CCTTT,NM_000092.4:c.192+8997_192+8998insAAAG,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471958,2:227995883:T>C,NM_000092.4:c.192+8994A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.271,\N,\N,COL4A4
471959,2:227995889:T>A,NM_000092.4:c.192+8988A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.728,\N,\N,COL4A4
471960,2:227995891:A>T,NM_000092.4:c.192+8986T>A,\N,\N,4/47,Benign,\N,intron_variant,0.872,0.0119,1KG_EAS_AF,COL4A4
471961,2:227995911:G>A,NM_000092.4:c.192+8966C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.014,0.002,1KG_EUR_AF,COL4A4
471962,2:227995973:G>A,NM_000092.4:c.192+8904C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.536,0.002,1KG_EAS_AF,COL4A4
471963,2:227996061:CA>C,NM_000092.4:c.192+8815del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
471964,2:227996062:A>G,NM_000092.4:c.192+8815T>C,\N,\N,4/47,Benign,\N,intron_variant,0.066,0.4155,1KG_EUR_AF,COL4A4
471965,2:227996099:C>T,NM_000092.4:c.192+8778G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.652,0.003,1KG_AFR_AF,COL4A4
471966,2:227996104:C>T,NM_000092.4:c.192+8773G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,5.359,\N,\N,COL4A4
471967,2:227996141:G>A,NM_000092.4:c.192+8736C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,7.764,0.0015,1KG_AFR_AF,COL4A4
471968,2:227996160:C>T,NM_000092.4:c.192+8717G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.35,0.0008,1KG_AFR_AF,COL4A4
471969,2:227996165:C>A,NM_000092.4:c.192+8712G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.03,\N,\N,COL4A4
471970,2:227996205:G>A,NM_000092.4:c.192+8672C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.019,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,COL4A4
471971,2:227996231:T>G,NM_000092.4:c.192+8646A>C,\N,\N,4/47,Benign,\N,intron_variant,0.12,0.4145,1KG_EUR_AF,COL4A4
471972,2:227996244:C>T,NM_000092.4:c.192+8633G>A,\N,\N,4/47,Benign,\N,intron_variant,2.003,0.4135,1KG_EUR_AF,COL4A4
471973,2:227996298:C>T,NM_000092.4:c.192+8579G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.449,\N,\N,COL4A4
471974,2:227996299:G>A,NM_000092.4:c.192+8578C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.2,\N,\N,COL4A4
471975,2:227996324:C>G,NM_000092.4:c.192+8553G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.147,0.0014,1KG_AMR_AF,COL4A4
471976,2:227996333:A>G,NM_000092.4:c.192+8544T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.31,\N,\N,COL4A4
471977,2:227996343:C>T,NM_000092.4:c.192+8534G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.006,0.0014,1KG_AMR_AF,COL4A4
471978,2:227996344:G>A,NM_000092.4:c.192+8533C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.285,0.0014,1KG_AMR_AF,COL4A4
471979,2:227996357:A>T,NM_000092.4:c.192+8520T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.509,0.001,1KG_EUR_AF,COL4A4
471980,2:227996360:C>T,NM_000092.4:c.192+8517G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.168,0.0008,1KG_AFR_AF,COL4A4
471981,2:227996384:G>A,NM_000092.4:c.192+8493C>T,\N,\N,4/47,Benign,\N,intron_variant,2.573,0.0656,1KG_EUR_AF,COL4A4
471982,2:227996388:C>T,NM_000092.4:c.192+8489G>A,\N,\N,4/47,Benign,\N,intron_variant,1.926,0.0598,1KG_AFR_AF,COL4A4
471983,2:227996403:G>T,NM_000092.4:c.192+8474C>A,\N,\N,4/47,Benign,\N,intron_variant,1.393,0.0166,1KG_AFR_AF,COL4A4
471984,2:227996429:C>A,NM_000092.4:c.192+8448G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.195,\N,\N,COL4A4
471985,2:227996429:C>G,NM_000092.4:c.192+8448G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.975,\N,\N,COL4A4
471986,2:227996471:A>G,NM_000092.4:c.192+8406T>C,\N,\N,4/47,Benign,\N,intron_variant,2.76,0.4135,1KG_EUR_AF,COL4A4
471987,2:227996503:C>T,NM_000092.4:c.192+8374G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.339,0.001,1KG_EAS_AF,COL4A4
471988,2:227996521:T>G,NM_000092.4:c.192+8356A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.663,\N,\N,COL4A4
471989,2:227996529:T>C,NM_000092.4:c.192+8348A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.435,\N,\N,COL4A4
471990,2:227996541:C>T,NM_000092.4:c.192+8336G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.696,0.0031,1KG_SAS_AF,COL4A4
471991,2:227996612:CAGA>C,NM_000092.4:c.192+8262_192+8264del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,0.002,1KG_SAS_AF,COL4A4
471992,2:227996649:C>A,NM_000092.4:c.192+8228G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.675,\N,\N,COL4A4
471993,2:227996657:G>A,NM_000092.4:c.192+8220C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.741,\N,\N,COL4A4
471994,2:227996694:G>C,NM_000092.4:c.192+8183C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.143,0.001,1KG_EUR_AF,COL4A4
471995,2:227996708:A>G,NM_000092.4:c.192+8169T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.212,\N,\N,COL4A4
471996,2:227996720:T>G,NM_000092.4:c.192+8157A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.866,0.001,1KG_EAS_AF,COL4A4
471997,2:227996726:G>A,NM_000092.4:c.192+8151C>T,\N,\N,4/47,Benign,\N,intron_variant,4.432,0.0072,1KG_AMR_AF,COL4A4
471998,2:227996770:A>G,NM_000092.4:c.192+8107T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.132,\N,\N,COL4A4
471999,2:227996777:C>T,NM_000092.4:c.192+8100G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.479,\N,\N,COL4A4
472000,2:227996826:G>A,NM_000092.4:c.192+8051C>T,\N,\N,4/47,Benign,\N,intron_variant,2.336,0.0149,1KG_EUR_AF,COL4A4
472001,2:227996852:G>A,NM_000092.4:c.192+8025C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.991,0.003,1KG_EAS_AF,COL4A4
472002,2:227996865:T>C,NM_000092.4:c.192+8012A>G,\N,\N,4/47,Benign,\N,intron_variant,1.049,0.0598,1KG_AFR_AF,COL4A4
472003,2:227996871:C>T,NM_000092.4:c.192+8006G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.869,0.0014,1KG_AMR_AF,COL4A4
472004,2:227996875:A>G,NM_000092.4:c.192+8002T>C,\N,\N,4/47,Benign,\N,intron_variant,2.445,0.0656,1KG_EUR_AF,COL4A4
472005,2:227996894:G>A,NM_000092.4:c.192+7983C>T,\N,\N,4/47,Benign,\N,intron_variant,4.053,0.0219,1KG_AFR_AF,COL4A4
472006,2:227996896:C>T,NM_000092.4:c.192+7981G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.013,0.001,1KG_SAS_AF,COL4A4
472007,2:227996966:A>G,NM_000092.4:c.192+7911T>C,\N,\N,4/47,Benign,\N,intron_variant,2.979,0.034,1KG_AFR_AF,COL4A4
472008,2:227997015:C>T,NM_000092.4:c.192+7862G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.899,\N,\N,COL4A4
472009,2:227997039:C>T,NM_000092.4:c.192+7838G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.287,\N,\N,COL4A4
472010,2:227997040:G>A,NM_000092.4:c.192+7837C>T,\N,\N,4/47,Benign,\N,intron_variant,0.839,0.4135,1KG_EUR_AF,COL4A4
472011,2:227997056:CCAGGCTG>C,NM_000092.4:c.192+7814_192+7820del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
472012,2:227997066:G>A,NM_000092.4:c.192+7811C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.741,0.0014,1KG_AMR_AF,COL4A4
472013,2:227997082:C>T,NM_000092.4:c.192+7795G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.114,0.0015,1KG_AFR_AF,COL4A4
472014,2:227997083:G>A,NM_000092.4:c.192+7794C>T,\N,\N,4/47,Benign,\N,intron_variant,1.137,0.006,1KG_EUR_AF,COL4A4
472015,2:227997084:A>C,NM_000092.4:c.192+7793T>G,\N,\N,4/47,Benign,\N,intron_variant,0.298,0.006,1KG_EUR_AF,COL4A4
472016,2:227997086:T>G,NM_000092.4:c.192+7791A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.126,0.004,1KG_EUR_AF,COL4A4
472017,2:227997097:T>C,NM_000092.4:c.192+7780A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.564,0.001,1KG_EAS_AF,COL4A4
472018,2:227997099:G>T,NM_000092.4:c.192+7778C>A,\N,\N,4/47,Benign,\N,intron_variant,1.063,0.056,1KG_AFR_AF,COL4A4
472019,2:227997146:C>T,NM_000092.4:c.192+7731G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.724,\N,\N,COL4A4
472020,2:227997160:G>A,NM_000092.4:c.192+7717C>T,\N,\N,4/47,Benign,\N,intron_variant,4.301,0.0061,1KG_AFR_AF,COL4A4
472021,2:227997185:G>A,NM_000092.4:c.192+7692C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.495,0.0008,1KG_AFR_AF,COL4A4
472022,2:227997189:C>G,NM_000092.4:c.192+7688G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.383,0.001,1KG_SAS_AF,COL4A4
472023,2:227997213:C>T,NM_000092.4:c.192+7664G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.671,0.0014,1KG_AMR_AF,COL4A4
472024,2:227997214:G>C,NM_000092.4:c.192+7663C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.039,\N,\N,COL4A4
472025,2:227997216:G>A,NM_000092.4:c.192+7661C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.35,\N,\N,COL4A4
472026,2:227997227:CT>C,NM_000092.4:c.192+7649del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
472027,2:227997228:T>A,NM_000092.4:c.192+7649A>T,\N,\N,4/47,Benign,\N,intron_variant,3.476,0.4135,1KG_EUR_AF,COL4A4
472028,2:227997246:C>A,NM_000092.4:c.192+7631G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.532,0.002,1KG_EUR_AF,COL4A4
472029,2:227997268:G>A,NM_000092.4:c.192+7609C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.155,0.0014,1KG_AMR_AF,COL4A4
472030,2:227997291:A>C,NM_000092.4:c.192+7586T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.054,\N,\N,COL4A4
472031,2:227997320:C>T,NM_000092.4:c.192+7557G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.958,\N,\N,COL4A4
472032,2:227997321:G>A,NM_000092.4:c.192+7556C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.491,0.0031,1KG_SAS_AF,COL4A4
472033,2:227997324:T>C,NM_000092.4:c.192+7553A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.227,0.0015,1KG_AFR_AF,COL4A4
472034,2:227997342:A>T,NM_000092.4:c.192+7535T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.314,\N,\N,COL4A4
472035,2:227997348:C>T,NM_000092.4:c.192+7529G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.521,\N,\N,COL4A4
472036,2:227997349:G>A,NM_000092.4:c.192+7528C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.113,0.002,1KG_EUR_AF,COL4A4
472037,2:227997351:G>T,NM_000092.4:c.192+7526C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.548,\N,\N,COL4A4
472038,2:227997362:T>G,NM_000092.4:c.192+7515A>C,\N,\N,4/47,Benign,\N,intron_variant,0.642,0.0598,1KG_AFR_AF,COL4A4
472039,2:227997372:A>G,NM_000092.4:c.192+7505T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.032,\N,\N,COL4A4
472040,2:227997406:C>T,NM_000092.4:c.192+7471G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.129,0.0008,1KG_AFR_AF,COL4A4
472041,2:227997421:G>A,NM_000092.4:c.192+7456C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.998,0.001,1KG_SAS_AF,COL4A4
472042,2:227997424:G>A,NM_000092.4:c.192+7453C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.528,\N,\N,COL4A4
472043,2:227997451:C>T,NM_000092.4:c.192+7426G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.942,0.001,1KG_EAS_AF,COL4A4
472044,2:227997469:C>T,NM_000092.4:c.192+7408G>A,\N,\N,4/47,Benign,\N,intron_variant,0.107,0.0083,1KG_AFR_AF,COL4A4
472045,2:227997470:A>G,NM_000092.4:c.192+7407T>C,\N,\N,4/47,Benign,\N,intron_variant,0.688,0.4135,1KG_EUR_AF,COL4A4
472046,2:227997506:A>C,NM_000092.4:c.192+7371T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.258,\N,\N,COL4A4
472047,2:227997507:C>CA,NM_000092.4:c.192+7369dup,\N,\N,4/47,Unknown significance,\N,intron_variant,0.865,0.002,1KG_SAS_AF,COL4A4
472048,2:227997507:CAA>C,NM_000092.4:c.192+7368_192+7369del,\N,\N,4/47,Benign,\N,intron_variant,4.179,0.0772,1KG_AFR_AF,COL4A4
472049,2:227997526:T>C,NM_000092.4:c.192+7351A>G,\N,\N,4/47,Benign,\N,intron_variant,0.086,0.0079,1KG_EAS_AF,COL4A4
472050,2:227997567:T>A,NM_000092.4:c.192+7310A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,3.457,0.001,1KG_EUR_AF,COL4A4
472051,2:227997574:A>G,NM_000092.4:c.192+7303T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.702,\N,\N,COL4A4
472052,2:227997578:T>C,NM_000092.4:c.192+7299A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.046,\N,\N,COL4A4
472053,2:227997601:G>A,NM_000092.4:c.192+7276C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.869,0.001,1KG_SAS_AF,COL4A4
472054,2:227997608:G>T,NM_000092.4:c.192+7269C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.855,\N,\N,COL4A4
472055,2:227997636:C>T,NM_000092.4:c.192+7241G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.643,\N,\N,COL4A4
472056,2:227997643:T>G,NM_000092.4:c.192+7234A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.939,\N,\N,COL4A4
472057,2:227997660:C>T,NM_000092.4:c.192+7217G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.341,\N,\N,COL4A4
472058,2:227997692:C>T,NM_000092.4:c.192+7185G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.372,0.003,1KG_EAS_AF,COL4A4
472059,2:227997698:GCTTT>G,NM_000092.4:c.192+7175_192+7178del,\N,\N,4/47,Unknown significance,\N,intron_variant,4.452,\N,\N,COL4A4
472060,2:227997705:A>G,NM_000092.4:c.192+7172T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.042,0.0008,1KG_AFR_AF,COL4A4
472061,2:227997724:T>C,NM_000092.4:c.192+7153A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.033,\N,\N,COL4A4
472062,2:227997730:C>T,NM_000092.4:c.192+7147G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,4.474,0.0015,1KG_AFR_AF,COL4A4
472063,2:227997755:T>G,NM_000092.4:c.192+7122A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.782,0.001,1KG_EAS_AF,COL4A4
472064,2:227997767:G>A,NM_000092.4:c.192+7110C>T,\N,\N,4/47,Benign,\N,intron_variant,5.162,0.1725,1KG_AFR_AF,COL4A4
472065,2:227997788:A>G,NM_000092.4:c.192+7089T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,10.68,\N,\N,COL4A4
472066,2:227997808:C>T,NM_000092.4:c.192+7069G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,3.679,0.0008,1KG_AFR_AF,COL4A4
472067,2:227997825:C>T,NM_000092.4:c.192+7052G>A,\N,\N,4/47,Benign,\N,intron_variant,13.73,0.7398,1KG_AFR_AF,COL4A4
472068,2:227997834:C>A,NM_000092.4:c.192+7043G>T,\N,\N,4/47,Unknown significance,\N,intron_variant,9.014,\N,\N,COL4A4
472069,2:227997847:A>T,NM_000092.4:c.192+7030T>A,\N,\N,4/47,Benign,\N,intron_variant,2.707,0.0598,1KG_AFR_AF,COL4A4
472070,2:227997874:T>G,NM_000092.4:c.192+7003A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,6.753,\N,\N,COL4A4
472071,2:227997894:A>C,NM_000092.4:c.192+6983T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,3.302,\N,\N,COL4A4
472072,2:227997896:A>G,NM_000092.4:c.192+6981T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.587,0.001,1KG_SAS_AF,COL4A4
472073,2:227997917:T>C,NM_000092.4:c.192+6960A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,7.15,0.001,1KG_EAS_AF,COL4A4
472074,2:227997953:A>C,NM_000092.4:c.192+6924T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,9.724,\N,\N,COL4A4
472075,2:227997971:A>C,NM_000092.4:c.192+6906T>G,\N,\N,4/47,Benign,\N,intron_variant,0.249,0.4135,1KG_EUR_AF,COL4A4
472076,2:227997978:T>G,NM_000092.4:c.192+6899A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.619,0.0008,1KG_AFR_AF,COL4A4
472077,2:227998007:G>A,NM_000092.4:c.192+6870C>T,\N,\N,4/47,Benign,\N,intron_variant,1.218,0.0144,1KG_AFR_AF,COL4A4
472078,2:227998036:C>T,NM_000092.4:c.192+6841G>A,\N,\N,4/47,Benign,\N,intron_variant,1.396,0.2042,1KG_AFR_AF,COL4A4
472079,2:227998060:T>C,NM_000092.4:c.192+6817A>G,\N,\N,4/47,Benign,\N,intron_variant,6.862,0.0265,1KG_AFR_AF,COL4A4
472080,2:227998066:A>G,NM_000092.4:c.192+6811T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.424,0.0038,1KG_AFR_AF,COL4A4
472081,2:227998070:A>C,NM_000092.4:c.192+6807T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.258,\N,\N,COL4A4
472082,2:227998114:T>G,NM_000092.4:c.192+6763A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.774,\N,\N,COL4A4
472083,2:227998124:G>A,NM_000092.4:c.192+6753C>T,\N,\N,4/47,Benign,\N,intron_variant,3.473,0.0209,1KG_EUR_AF,COL4A4
472084,2:227998215:C>T,NM_000092.4:c.192+6662G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.756,0.0008,1KG_AFR_AF,COL4A4
472085,2:227998263:T>C,NM_000092.4:c.192+6614A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.622,0.001,1KG_EUR_AF,COL4A4
472086,2:227998283:A>T,NM_000092.4:c.192+6594T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.037,0.002,1KG_SAS_AF,COL4A4
472087,2:227998301:A>G,NM_000092.4:c.192+6576T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.246,\N,\N,COL4A4
472088,2:227998340:G>A,NM_000092.4:c.192+6537C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.497,0.0008,1KG_AFR_AF,COL4A4
472089,2:227998345:C>T,NM_000092.4:c.192+6532G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.15,0.001,1KG_SAS_AF,COL4A4
472090,2:227998359:G>A,NM_000092.4:c.192+6518C>T,\N,\N,4/47,Benign,\N,intron_variant,0.381,0.0153,1KG_SAS_AF,COL4A4
472091,2:227998365:TG>T,NM_000092.4:c.192+6511del,\N,\N,4/47,Benign,\N,intron_variant,0.943,0.0143,1KG_SAS_AF,COL4A4
472092,2:227998416:T>C,NM_000092.4:c.192+6461A>G,\N,\N,4/47,Benign,\N,intron_variant,0.545,0.0325,1KG_AFR_AF,COL4A4
472093,2:227998427:G>A,NM_000092.4:c.192+6450C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.53,0.0008,1KG_AFR_AF,COL4A4
472094,2:227998437:A>T,NM_000092.4:c.192+6440T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,1.981,\N,\N,COL4A4
472095,2:227998467:G>A,NM_000092.4:c.192+6410C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,2.32,0.0014,1KG_AMR_AF,COL4A4
472096,2:227998470:C>T,NM_000092.4:c.192+6407G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.636,0.0008,1KG_AFR_AF,COL4A4
472097,2:227998471:G>A,NM_000092.4:c.192+6406C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,1.493,0.001,1KG_EAS_AF,COL4A4
472098,2:227998499:C>T,NM_000092.4:c.192+6378G>A,\N,\N,4/47,Benign,\N,intron_variant,0.081,0.0068,1KG_AFR_AF,COL4A4
472099,2:227998564:G>A,NM_000092.4:c.192+6313C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.147,\N,\N,COL4A4
472100,2:227998609:G>A,NM_000092.4:c.192+6268C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.021,\N,\N,COL4A4
472101,2:227998609:GA>G,NM_000092.4:c.192+6267del,\N,\N,4/47,Benign,\N,intron_variant,0.18,0.7248,1KG_AMR_AF,COL4A4
472102,2:227998610:A>G,NM_000092.4:c.192+6267T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.59,\N,\N,COL4A4
472103,2:227998614:A>G,NM_000092.4:c.192+6263T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.436,0.0008,1KG_AFR_AF,COL4A4
472104,2:227998620:AG>A,NM_000092.4:c.192+6256del,\N,\N,4/47,Unknown significance,\N,intron_variant,0.315,\N,\N,COL4A4
472105,2:227998633:A>T,NM_000092.4:c.192+6244T>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.035,0.001,1KG_SAS_AF,COL4A4
472106,2:227998634:A>C,NM_000092.4:c.192+6243T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.701,0.0008,1KG_AFR_AF,COL4A4
472107,2:227998654:T>C,NM_000092.4:c.192+6223A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.373,\N,\N,COL4A4
472108,2:227998662:A>G,NM_000092.4:c.192+6215T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.558,\N,\N,COL4A4
472109,2:227998674:C>T,NM_000092.4:c.192+6203G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,2.039,\N,\N,COL4A4
472110,2:227998676:A>G,NM_000092.4:c.192+6201T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.752,\N,\N,COL4A4
472111,2:227998713:T>C,NM_000092.4:c.192+6164A>G,\N,\N,4/47,Benign,\N,intron_variant,1.242,0.4781,1KG_EUR_AF,COL4A4
472112,2:227998729:A>C,NM_000092.4:c.192+6148T>G,\N,\N,4/47,Benign,\N,intron_variant,1.03,0.0106,1KG_AFR_AF,COL4A4
472113,2:227998794:C>G,NM_000092.4:c.192+6083G>C,\N,\N,4/47,Benign,\N,intron_variant,3.082,0.0658,1KG_AFR_AF,COL4A4
472114,2:227998816:G>A,NM_000092.4:c.192+6061C>T,\N,\N,4/47,Benign,\N,intron_variant,3.182,0.005,1KG_EAS_AF,COL4A4
472115,2:227998841:G>C,NM_000092.4:c.192+6036C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.209,\N,\N,COL4A4
472116,2:227998913:C>G,NM_000092.4:c.192+5964G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,1.081,\N,\N,COL4A4
472117,2:227998962:C>G,NM_000092.4:c.192+5915G>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.325,\N,\N,COL4A4
472118,2:227998967:G>C,NM_000092.4:c.192+5910C>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.657,0.001,1KG_EUR_AF|1KG_SAS_AF,COL4A4
472119,2:227998975:A>G,NM_000092.4:c.192+5902T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.621,0.001,1KG_SAS_AF,COL4A4
472120,2:227998983:A>G,NM_000092.4:c.192+5894T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.702,0.001,1KG_SAS_AF,COL4A4
472121,2:227999059:A>G,NM_000092.4:c.192+5818T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.528,\N,\N,COL4A4
472122,2:227999063:A>G,NM_000092.4:c.192+5814T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,0.946,0.0023,1KG_AFR_AF,COL4A4
472123,2:227999081:A>C,NM_000092.4:c.192+5796T>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.791,\N,\N,COL4A4
472124,2:227999104:G>A,NM_000092.4:c.192+5773C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,0.634,0.0008,1KG_AFR_AF,COL4A4
472125,2:227999107:G>T,NM_000092.4:c.192+5770C>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.897,0.001,1KG_SAS_AF,COL4A4
472126,2:227999142:G>A,NM_000092.4:c.192+5735C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,11.7,0.0014,1KG_AMR_AF,COL4A4
472127,2:227999166:C>T,NM_000092.4:c.192+5711G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,12.14,\N,\N,COL4A4
472128,2:227999177:T>C,NM_000092.4:c.192+5700A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,7.087,0.0041,1KG_SAS_AF,COL4A4
472129,2:227999178:A>G,NM_000092.4:c.192+5699T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,8.236,0.0031,1KG_SAS_AF,COL4A4
472130,2:227999196:T>C,NM_000092.4:c.192+5681A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.417,0.001,1KG_EAS_AF,COL4A4
472131,2:227999214:A>G,NM_000092.4:c.192+5663T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,3.19,0.001,1KG_EAS_AF,COL4A4
472132,2:227999214:AC>A,NM_000092.4:c.192+5662del,\N,\N,4/47,Unknown significance,\N,intron_variant,\N,\N,\N,COL4A4
472133,2:227999218:T>C,NM_000092.4:c.192+5659A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,0.953,\N,\N,COL4A4
472134,2:227999253:C>T,NM_000092.4:c.192+5624G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,20.3,\N,\N,COL4A4
472135,2:227999274:G>A,NM_000092.4:c.192+5603C>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.948,0.0045,1KG_AFR_AF,COL4A4
472136,2:227999281:T>A,NM_000092.4:c.192+5596A>T,\N,\N,4/47,Unknown significance,\N,intron_variant,5.572,0.0038,1KG_AFR_AF,COL4A4
472137,2:227999284:T>C,NM_000092.4:c.192+5593A>G,\N,\N,4/47,Unknown significance,\N,intron_variant,1.345,\N,\N,COL4A4
472138,2:227999288:A>G,NM_000092.4:c.192+5589T>C,\N,\N,4/47,Unknown significance,\N,intron_variant,4.255,\N,\N,COL4A4
472139,2:227999291:T>G,NM_000092.4:c.192+5586A>C,\N,\N,4/47,Unknown significance,\N,intron_variant,2.4,\N,\N,COL4A4
472140,2:227999380:C>T,NM_000092.4:c.192+5497G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,8.281,0.0045,1KG_AFR_AF,COL4A4
472141,2:227999411:C>T,NM_000092.4:c.192+5466G>A,\N,\N,4/47,Unknown significance,\N,intron_variant,0.672,\N,\N,COL4A4
472142,2:227999412:G>T,NM_000092.4:c.192+5465C>A,\N,\N,4/47,Unknown signi