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
210424,11:706135:G>A,NM_022772.3:c.-232G>A,\N,1/21,\N,Benign,\N,5_prime_UTR_variant,17.08,0.0151,1KG_AFR_AF,EPS8L2
210425,11:706166:G>C,NM_022772.3:c.-201G>C,\N,1/21,\N,Unknown significance,\N,5_prime_UTR_variant,4.9,0.0023,1KG_AFR_AF,EPS8L2
210426,11:706243:C>A,NM_022772.3:c.-124C>A,\N,1/21,\N,Unknown significance,\N,5_prime_UTR_variant,11.37,0.0038,1KG_AFR_AF,EPS8L2
210427,11:706277:C>T,NM_022772.3:c.-90C>T,\N,1/21,\N,Unknown significance,\N,5_prime_UTR_variant,11.39,0.0031,1KG_SAS_AF,EPS8L2
210428,11:706284:G>T,NM_022772.3:c.-83G>T,\N,1/21,\N,Benign,\N,5_prime_UTR_variant,3.738,0.295,1KG_AFR_AF,EPS8L2
210429,11:706310:G>A,NM_022772.3:c.-79+22G>A,\N,\N,1/20,Benign,\N,intron_variant,6.494,0.2844,1KG_AFR_AF,EPS8L2
210430,11:706327:C>G,NM_022772.3:c.-79+39C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,6.115,0.0023,1KG_AFR_AF,EPS8L2
210431,11:706351:G>A,NM_022772.3:c.-79+63G>A,\N,\N,1/20,Benign,\N,intron_variant,8.827,0.0098,1KG_AFR_AF,EPS8L2
210432,11:706356:G>A,NM_022772.3:c.-79+68G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,10.39,\N,\N,EPS8L2
210433,11:706366:G>A,NM_022772.3:c.-79+78G>A,\N,\N,1/20,Benign,\N,intron_variant,7.379,0.1905,1KG_EAS_AF,EPS8L2
210434,11:706427:C>A,NM_022772.3:c.-79+139C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.019,\N,\N,EPS8L2
210435,11:706483:G>C,NM_022772.3:c.-79+195G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,5.951,\N,\N,EPS8L2
210436,11:706493:G>A,NM_022772.3:c.-79+205G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.606,0.001,1KG_EAS_AF,EPS8L2
210437,11:706507:C>A,NM_022772.3:c.-79+219C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.564,\N,\N,EPS8L2
210438,11:706510:C>G,NM_022772.3:c.-79+222C>G,\N,\N,1/20,Benign,\N,intron_variant,6.268,0.2965,1KG_AFR_AF,EPS8L2
210439,11:706510:C>T,NM_022772.3:c.-79+222C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.102,\N,\N,EPS8L2
210440,11:706556:G>A,NM_022772.3:c.-79+268G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.597,0.0008,1KG_AFR_AF,EPS8L2
210441,11:706612:G>A,NM_022772.3:c.-79+324G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,8.584,\N,\N,EPS8L2
210442,11:706624:C>T,NM_022772.3:c.-79+336C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,10.5,\N,\N,EPS8L2
210443,11:706660:G>C,NM_022772.3:c.-79+372G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,4.247,\N,\N,EPS8L2
210444,11:706685:C>A,NM_022772.3:c.-79+397C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.154,\N,\N,EPS8L2
210445,11:706686:G>A,NM_022772.3:c.-79+398G>A,\N,\N,1/20,Benign,\N,intron_variant,8.936,0.0238,1KG_EAS_AF,EPS8L2
210446,11:706709:A>G,NM_022772.3:c.-79+421A>G,\N,\N,1/20,Unknown significance,\N,intron_variant,3.427,0.0008,1KG_AFR_AF,EPS8L2
210447,11:706725:C>A,NM_022772.3:c.-79+437C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,8.286,0.0031,1KG_SAS_AF,EPS8L2
210448,11:706765:C>A,NM_022772.3:c.-79+477C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.334,\N,\N,EPS8L2
210449,11:706795:C>T,NM_022772.3:c.-79+507C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.378,\N,\N,EPS8L2
210450,11:706801:G>A,NM_022772.3:c.-79+513G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.065,0.001,1KG_EUR_AF,EPS8L2
210451,11:706821:T>C,NM_022772.3:c.-79+533T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,4.758,0.001,1KG_EUR_AF,EPS8L2
210452,11:706842:A>G,NM_022772.3:c.-79+554A>G,\N,\N,1/20,Unknown significance,\N,intron_variant,0.767,\N,\N,EPS8L2
210453,11:706851:G>A,NM_022772.3:c.-79+563G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,7.601,0.001,1KG_SAS_AF,EPS8L2
210454,11:706856:G>A,NM_022772.3:c.-79+568G>A,\N,\N,1/20,Benign,\N,intron_variant,5.873,0.0068,1KG_AFR_AF,EPS8L2
210455,11:706861:G>A,NM_022772.3:c.-79+573G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,3.757,0.003,1KG_EUR_AF,EPS8L2
210456,11:706861:G>C,NM_022772.3:c.-79+573G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.39,\N,\N,EPS8L2
210457,11:706878:GCCA>G,NM_022772.3:c.-79+591_-79+593del,\N,\N,1/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210458,11:706891:G>A,NM_022772.3:c.-79+603G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,5.107,\N,\N,EPS8L2
210459,11:706899:G>A,NM_022772.3:c.-79+611G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,0.876,0.001,1KG_EUR_AF,EPS8L2
210460,11:706924:G>C,NM_022772.3:c.-79+636G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.979,0.001,1KG_EAS_AF,EPS8L2
210461,11:706948:G>C,NM_022772.3:c.-79+660G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,3.521,\N,\N,EPS8L2
210462,11:707025:G>A,NM_022772.3:c.-79+737G>A,\N,\N,1/20,Benign,\N,intron_variant,3.536,0.3363,1KG_EAS_AF,EPS8L2
210463,11:707031:G>A,NM_022772.3:c.-79+743G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,1.286,\N,\N,EPS8L2
210464,11:707094:C>T,NM_022772.3:c.-79+806C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,7.51,0.003,1KG_EUR_AF,EPS8L2
210465,11:707104:G>C,NM_022772.3:c.-79+816G>C,\N,\N,1/20,Benign,\N,intron_variant,0.57,0.0231,1KG_AMR_AF,EPS8L2
210466,11:707110:C>CCCTCCCCTCGCGGCCCCT,NM_022772.3:c.-79+844_-79+861dup,\N,\N,1/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210467,11:707110:C>T,NM_022772.3:c.-79+822C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.194,\N,\N,EPS8L2
210468,11:707125:C>T,NM_022772.3:c.-79+837C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.259,\N,\N,EPS8L2
210469,11:707152:G>C,NM_022772.3:c.-79+864G>C,\N,\N,1/20,Benign,\N,intron_variant,3.319,0.2821,1KG_AFR_AF,EPS8L2
210470,11:707164:C>T,NM_022772.3:c.-79+876C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.469,\N,\N,EPS8L2
210471,11:707211:G>A,NM_022772.3:c.-79+923G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.443,0.0008,1KG_AFR_AF,EPS8L2
210472,11:707215:C>G,NM_022772.3:c.-79+927C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,5.64,0.0029,1KG_AMR_AF,EPS8L2
210473,11:707221:C>T,NM_022772.3:c.-79+933C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,2.921,\N,\N,EPS8L2
210474,11:707269:T>C,NM_022772.3:c.-79+981T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,2.834,0.0008,1KG_AFR_AF,EPS8L2
210475,11:707297:A>C,NM_022772.3:c.-79+1009A>C,\N,\N,1/20,Benign,\N,intron_variant,0.861,0.9191,1KG_AFR_AF,EPS8L2
210476,11:707310:G>A,NM_022772.3:c.-79+1022G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,7.803,\N,\N,EPS8L2
210477,11:707329:A>G,NM_022772.3:c.-79+1041A>G,\N,\N,1/20,Unknown significance,\N,intron_variant,3.206,0.003,1KG_EUR_AF,EPS8L2
210478,11:707340:C>T,NM_022772.3:c.-79+1052C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.353,\N,\N,EPS8L2
210479,11:707348:C>A,NM_022772.3:c.-79+1060C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.526,\N,\N,EPS8L2
210480,11:707348:C>T,NM_022772.3:c.-79+1060C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.258,0.0008,1KG_AFR_AF,EPS8L2
210481,11:707424:C>T,NM_022772.3:c.-79+1136C>T,\N,\N,1/20,Benign,\N,intron_variant,9.967,0.9198,1KG_AFR_AF,EPS8L2
210482,11:707439:C>T,NM_022772.3:c.-79+1151C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.294,0.0014,1KG_AMR_AF,EPS8L2
210483,11:707440:G>A,NM_022772.3:c.-79+1152G>A,\N,\N,1/20,Benign,\N,intron_variant,6.46,0.0287,1KG_AFR_AF,EPS8L2
210484,11:707444:C>G,NM_022772.3:c.-79+1156C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,4.127,0.0029,1KG_AMR_AF,EPS8L2
210485,11:707449:C>T,NM_022772.3:c.-79+1161C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,7.953,\N,\N,EPS8L2
210486,11:707450:C>T,NM_022772.3:c.-79+1162C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,8.49,\N,\N,EPS8L2
210487,11:707496:G>A,NM_022772.3:c.-79+1208G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,1.338,\N,\N,EPS8L2
210488,11:707504:C>T,NM_022772.3:c.-79+1216C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,4.907,\N,\N,EPS8L2
210489,11:707505:G>A,NM_022772.3:c.-79+1217G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.542,0.001,1KG_SAS_AF,EPS8L2
210490,11:707512:C>T,NM_022772.3:c.-79+1224C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,7.178,\N,\N,EPS8L2
210491,11:707524:C>T,NM_022772.3:c.-79+1236C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,7.235,\N,\N,EPS8L2
210492,11:707566:G>A,NM_022772.3:c.-79+1278G>A,\N,\N,1/20,Benign,\N,intron_variant,11.86,0.0606,1KG_EUR_AF,EPS8L2
210493,11:707571:C>T,NM_022772.3:c.-79+1283C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,2.379,0.0031,1KG_SAS_AF,EPS8L2
210494,11:707573:T>C,NM_022772.3:c.-79+1285T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.491,0.001,1KG_EAS_AF,EPS8L2
210495,11:707588:G>A,NM_022772.3:c.-79+1300G>A,\N,\N,1/20,Benign,\N,intron_variant,1.247,0.0058,1KG_AMR_AF,EPS8L2
210496,11:707613:C>T,NM_022772.3:c.-79+1325C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.356,\N,\N,EPS8L2
210497,11:707624:C>T,NM_022772.3:c.-79+1336C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.788,\N,\N,EPS8L2
210498,11:707626:G>A,NM_022772.3:c.-79+1338G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,3.79,0.001,1KG_EAS_AF|1KG_EUR_AF,EPS8L2
210499,11:707627:G>T,NM_022772.3:c.-79+1339G>T,\N,\N,1/20,Unknown significance,\N,intron_variant,1.807,0.003,1KG_AFR_AF,EPS8L2
210500,11:707661:C>T,NM_022772.3:c.-79+1373C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,7.691,0.0008,1KG_AFR_AF,EPS8L2
210501,11:707682:C>T,NM_022772.3:c.-79+1394C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.885,0.002,1KG_EAS_AF,EPS8L2
210502,11:707713:T>C,NM_022772.3:c.-79+1425T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,2.413,\N,\N,EPS8L2
210503,11:707740:C>A,NM_022772.3:c.-79+1452C>A,\N,\N,1/20,Unknown significance,\N,intron_variant,7.293,0.0014,1KG_AMR_AF,EPS8L2
210504,11:707764:C>T,NM_022772.3:c.-79+1476C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.96,0.0008,1KG_AFR_AF,EPS8L2
210505,11:707777:G>A,NM_022772.3:c.-79+1489G>A,\N,\N,1/20,Benign,\N,intron_variant,3.097,0.0303,1KG_AFR_AF,EPS8L2
210506,11:707793:T>C,NM_022772.3:c.-79+1505T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.624,\N,\N,EPS8L2
210507,11:707800:G>A,NM_022772.3:c.-79+1512G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.726,\N,\N,EPS8L2
210508,11:707802:G>T,NM_022772.3:c.-79+1514G>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.213,\N,\N,EPS8L2
210509,11:707821:C>T,NM_022772.3:c.-78-1509C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,1.276,0.001,1KG_EAS_AF,EPS8L2
210510,11:707825:G>C,NM_022772.3:c.-78-1505G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.955,\N,\N,EPS8L2
210511,11:707829:C>T,NM_022772.3:c.-78-1501C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.745,\N,\N,EPS8L2
210512,11:707831:T>C,NM_022772.3:c.-78-1499T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.01,\N,\N,EPS8L2
210513,11:707840:C>T,NM_022772.3:c.-78-1490C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.853,\N,\N,EPS8L2
210514,11:707850:T>A,NM_022772.3:c.-78-1480T>A,\N,\N,1/20,Benign,\N,intron_variant,4.489,0.005,1KG_EUR_AF,EPS8L2
210515,11:707864:C>G,NM_022772.3:c.-78-1466C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,9.126,0.0014,1KG_AMR_AF,EPS8L2
210516,11:707864:C>T,NM_022772.3:c.-78-1466C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,10.47,\N,\N,EPS8L2
210517,11:707873:C>T,NM_022772.3:c.-78-1457C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.075,0.0008,1KG_AFR_AF,EPS8L2
210518,11:707874:G>A,NM_022772.3:c.-78-1456G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.232,0.001,1KG_EUR_AF,EPS8L2
210519,11:707881:G>C,NM_022772.3:c.-78-1449G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.655,0.001,1KG_EAS_AF,EPS8L2
210520,11:707884:G>A,NM_022772.3:c.-78-1446G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,0.775,0.001,1KG_EAS_AF,EPS8L2
210521,11:707909:A>G,NM_022772.3:c.-78-1421A>G,\N,\N,1/20,Benign,\N,intron_variant,16.51,0.0164,1KG_SAS_AF,EPS8L2
210522,11:707914:C>G,NM_022772.3:c.-78-1416C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,13.99,\N,\N,EPS8L2
210523,11:707922:C>T,NM_022772.3:c.-78-1408C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.786,\N,\N,EPS8L2
210524,11:707923:G>A,NM_022772.3:c.-78-1407G>A,\N,\N,1/20,Benign,\N,intron_variant,5.485,0.0545,1KG_AFR_AF,EPS8L2
210525,11:707925:C>T,NM_022772.3:c.-78-1405C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.222,0.001,1KG_SAS_AF,EPS8L2
210526,11:707934:C>T,NM_022772.3:c.-78-1396C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,10.28,\N,\N,EPS8L2
210527,11:707935:G>A,NM_022772.3:c.-78-1395G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,5.018,0.001,1KG_EAS_AF,EPS8L2
210528,11:707950:A>G,NM_022772.3:c.-78-1380A>G,\N,\N,1/20,Unknown significance,\N,intron_variant,9.866,\N,\N,EPS8L2
210529,11:707955:C>T,NM_022772.3:c.-78-1375C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,11.16,0.001,1KG_EUR_AF,EPS8L2
210530,11:707966:T>G,NM_022772.3:c.-78-1364T>G,\N,\N,1/20,Unknown significance,\N,intron_variant,2.597,\N,\N,EPS8L2
210531,11:707985:T>C,NM_022772.3:c.-78-1345T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.9,0.001,1KG_SAS_AF,EPS8L2
210532,11:708018:G>A,NM_022772.3:c.-78-1312G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.497,0.001,1KG_EUR_AF,EPS8L2
210533,11:708029:C>T,NM_022772.3:c.-78-1301C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,10.14,0.0014,1KG_AMR_AF,EPS8L2
210534,11:708030:G>A,NM_022772.3:c.-78-1300G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,8.142,0.0008,1KG_AFR_AF,EPS8L2
210535,11:708043:C>T,NM_022772.3:c.-78-1287C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.803,\N,\N,EPS8L2
210536,11:708081:C>T,NM_022772.3:c.-78-1249C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,4.519,0.0008,1KG_AFR_AF,EPS8L2
210537,11:708082:G>A,NM_022772.3:c.-78-1248G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,1.898,0.001,1KG_EAS_AF,EPS8L2
210538,11:708087:C>T,NM_022772.3:c.-78-1243C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,4.662,0.001,1KG_EAS_AF,EPS8L2
210539,11:708090:C>T,NM_022772.3:c.-78-1240C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.974,0.0015,1KG_AFR_AF,EPS8L2
210540,11:708143:G>A,NM_022772.3:c.-78-1187G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,6.068,0.002,1KG_EAS_AF,EPS8L2
210541,11:708166:C>T,NM_022772.3:c.-78-1164C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.472,0.001,1KG_EAS_AF,EPS8L2
210542,11:708207:G>A,NM_022772.3:c.-78-1123G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,1.141,\N,\N,EPS8L2
210543,11:708243:C>T,NM_022772.3:c.-78-1087C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,6.181,0.001,1KG_EAS_AF,EPS8L2
210544,11:708264:T>C,NM_022772.3:c.-78-1066T>C,\N,\N,1/20,Benign,\N,intron_variant,3.61,0.0061,1KG_AFR_AF,EPS8L2
210545,11:708278:C>T,NM_022772.3:c.-78-1052C>T,\N,\N,1/20,Benign,\N,intron_variant,4.75,0.0061,1KG_SAS_AF,EPS8L2
210546,11:708290:G>A,NM_022772.3:c.-78-1040G>A,\N,\N,1/20,Benign,\N,intron_variant,4.573,0.005,1KG_EAS_AF,EPS8L2
210547,11:708355:C>T,NM_022772.3:c.-78-975C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.39,0.0015,1KG_AFR_AF,EPS8L2
210548,11:708371:C>T,NM_022772.3:c.-78-959C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.838,0.001,1KG_SAS_AF,EPS8L2
210549,11:708372:G>A,NM_022772.3:c.-78-958G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.073,0.001,1KG_EUR_AF,EPS8L2
210550,11:708387:TC>T,NM_022772.3:c.-78-939del,\N,\N,1/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210551,11:708401:G>A,NM_022772.3:c.-78-929G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,0.501,\N,\N,EPS8L2
210552,11:708441:A>G,NM_022772.3:c.-78-889A>G,\N,\N,1/20,Unknown significance,\N,intron_variant,8.796,\N,\N,EPS8L2
210553,11:708458:G>A,NM_022772.3:c.-78-872G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,9.143,0.0031,1KG_SAS_AF,EPS8L2
210554,11:708459:G>T,NM_022772.3:c.-78-871G>T,\N,\N,1/20,Unknown significance,\N,intron_variant,9.01,0.001,1KG_EAS_AF,EPS8L2
210555,11:708479:C>T,NM_022772.3:c.-78-851C>T,\N,\N,1/20,Benign,\N,intron_variant,4.548,0.0377,1KG_EAS_AF,EPS8L2
210556,11:708481:T>C,NM_022772.3:c.-78-849T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.579,\N,\N,EPS8L2
210557,11:708488:C>T,NM_022772.3:c.-78-842C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,4.311,0.001,1KG_EUR_AF,EPS8L2
210558,11:708538:G>C,NM_022772.3:c.-78-792G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.32,0.001,1KG_SAS_AF,EPS8L2
210559,11:708587:G>C,NM_022772.3:c.-78-743G>C,\N,\N,1/20,Unknown significance,\N,intron_variant,0.292,0.001,1KG_SAS_AF,EPS8L2
210560,11:708602:G>A,NM_022772.3:c.-78-728G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.759,\N,\N,EPS8L2
210561,11:708611:C>T,NM_022772.3:c.-78-719C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,0.099,0.001,1KG_EAS_AF|1KG_EUR_AF,EPS8L2
210562,11:708612:G>A,NM_022772.3:c.-78-718G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,2.301,0.001,1KG_EAS_AF,EPS8L2
210563,11:708638:C>T,NM_022772.3:c.-78-692C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,3.005,0.0008,1KG_AFR_AF,EPS8L2
210564,11:708644:G>A,NM_022772.3:c.-78-686G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.892,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EPS8L2
210565,11:708664:G>A,NM_022772.3:c.-78-666G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,7.374,0.002,1KG_SAS_AF,EPS8L2
210566,11:708687:G>A,NM_022772.3:c.-78-643G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,2.671,0.002,1KG_EUR_AF,EPS8L2
210567,11:708695:T>A,NM_022772.3:c.-78-635T>A,\N,\N,1/20,Unknown significance,\N,intron_variant,4.604,0.001,1KG_EUR_AF,EPS8L2
210568,11:708755:C>T,NM_022772.3:c.-78-575C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,9.155,\N,\N,EPS8L2
210569,11:708798:G>C,NM_022772.3:c.-78-532G>C,\N,\N,1/20,Benign,\N,intron_variant,2.46,0.028,1KG_AFR_AF,EPS8L2
210570,11:708806:GC>G,NM_022772.3:c.-78-520del,\N,\N,1/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210571,11:709133:G>A,NM_022772.3:c.-78-197G>A,\N,\N,1/20,Benign,\N,intron_variant,3.849,0.0051,1KG_SAS_AF,EPS8L2
210572,11:709146:G>A,NM_022772.3:c.-78-184G>A,\N,\N,1/20,Benign,\N,intron_variant,1.12,0.0098,1KG_AFR_AF,EPS8L2
210573,11:709147:A>T,NM_022772.3:c.-78-183A>T,\N,\N,1/20,Benign,\N,intron_variant,1.379,0.005,1KG_EAS_AF,EPS8L2
210574,11:709150:G>A,NM_022772.3:c.-78-180G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,5.063,\N,\N,EPS8L2
210575,11:709155:T>TCAACTGGGACGTGGGGC,NM_022772.3:c.-78-148_-78-132dup,\N,\N,1/20,Benign,\N,intron_variant,0.12,0.351,1KG_AFR_AF,EPS8L2
210576,11:709155:TCAACTGGGACGTGGGGC>T,NM_022772.3:c.-78-148_-78-132del,\N,\N,1/20,Benign,\N,intron_variant,5.661,0.0477,1KG_AFR_AF,EPS8L2
210577,11:709187:G>A,NM_022772.3:c.-78-143G>A,\N,\N,1/20,Benign,\N,intron_variant,3.448,0.0051,1KG_SAS_AF,EPS8L2
210578,11:709199:T>C,NM_022772.3:c.-78-131T>C,\N,\N,1/20,Unknown significance,\N,intron_variant,1.23,\N,\N,EPS8L2
210579,11:709202:C>G,NM_022772.3:c.-78-128C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,0.232,\N,\N,EPS8L2
210580,11:709221:C>G,NM_022772.3:c.-78-109C>G,\N,\N,1/20,Unknown significance,\N,intron_variant,3.886,0.0043,1KG_AMR_AF,EPS8L2
210581,11:709227:G>T,NM_022772.3:c.-78-103G>T,\N,\N,1/20,Unknown significance,\N,intron_variant,0.385,0.0008,1KG_AFR_AF,EPS8L2
210582,11:709235:C>T,NM_022772.3:c.-78-95C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,4.392,0.0045,1KG_AFR_AF,EPS8L2
210583,11:709236:C>T,NM_022772.3:c.-78-94C>T,\N,\N,1/20,Unknown significance,\N,intron_variant,5.535,0.001,1KG_EAS_AF,EPS8L2
210584,11:709298:G>A,NM_022772.3:c.-78-32G>A,\N,\N,1/20,Unknown significance,\N,intron_variant,5.029,0.001,1KG_EAS_AF,EPS8L2
210585,11:709341:G>A,NM_022772.3:c.-67G>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,5.101,0.001,1KG_SAS_AF,EPS8L2
210586,11:709357:G>A,NM_022772.3:c.-51G>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,0.045,0.0047619,EXAC_OTH_AF,EPS8L2
210587,11:709361:C>T,NM_022772.3:c.-47C>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.957,\N,\N,EPS8L2
210588,11:709369:A>C,NM_022772.3:c.-39A>C,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,4.091,\N,\N,EPS8L2
210589,11:709371:G>T,NM_022772.3:c.-37G>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,2.787,\N,\N,EPS8L2
210590,11:709384:C>T,NM_022772.3:c.-24C>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,4.379,\N,\N,EPS8L2
210591,11:709385:C>G,NM_022772.3:c.-23C>G,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,1.987,\N,\N,EPS8L2
210592,11:709385:C>T,NM_022772.3:c.-23C>T,\N,2/21,\N,Benign,\N,5_prime_UTR_variant,3.743,0.0219224,EXAC_EAS_AF,EPS8L2
210593,11:709386:G>A,NM_022772.3:c.-22G>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,3.173,0.00103093,EXAC_AMR_AF,EPS8L2
210594,11:709391:C>A,NM_022772.3:c.-17C>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.641,\N,\N,EPS8L2
210595,11:709391:C>T,NM_022772.3:c.-17C>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.658,\N,\N,EPS8L2
210596,11:709392:C>A,NM_022772.3:c.-16C>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.585,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
210597,11:709392:C>T,NM_022772.3:c.-16C>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.556,0.0014,1KG_AMR_AF,EPS8L2
210598,11:709393:G>A,NM_022772.3:c.-15G>A,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,3.272,0.001,1KG_EUR_AF,EPS8L2
210599,11:709393:G>T,NM_022772.3:c.-15G>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,1.636,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
210600,11:709396:A>T,NM_022772.3:c.-12A>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,2.955,\N,\N,EPS8L2
210601,11:709398:C>T,NM_022772.3:c.-10C>T,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,6.302,0.0008,1KG_AFR_AF,EPS8L2
210602,11:709401:A>G,NM_022772.3:c.-7A>G,\N,2/21,\N,Benign,\N,5_prime_UTR_variant,8.734,0.5038,1KG_AFR_AF,EPS8L2
210603,11:709404:C>G,NM_022772.3:c.-4C>G,\N,2/21,\N,Unknown significance,\N,5_prime_UTR_variant,13.89,0.0000882223,EXAC_NFE_AF,EPS8L2
210604,11:709410:G>A,NM_022772.3:c.3G>A,NP_073609.2:p.Met1?,2/21,\N,Unknown significance,\N,start_lost,25,0.000591017,EXAC_EAS_AF,EPS8L2
210605,11:709414:C>A,NM_022772.3:c.7C>A,NP_073609.2:p.Gln3Lys,2/21,\N,Likely benign,\N,missense_variant,16.45,0.0019084,EXAC_AMR_AF,EPS8L2
210606,11:709414:C>T,NM_022772.3:c.7C>T,NP_073609.2:p.Gln3Ter,2/21,\N,Unknown significance,\N,stop_gained,35,0.0014,1KG_AMR_AF,EPS8L2
210607,11:709417:T>G,NM_022772.3:c.10T>G,NP_073609.2:p.Ser4Ala,2/21,\N,Likely benign,\N,missense_variant,0.002,0.000105419,EXAC_SAS_AF,EPS8L2
210608,11:709419:C>T,NM_022772.3:c.12C>T,NP_073609.2:p.Ser4=,2/21,\N,Unknown significance,\N,synonymous_variant,10.78,0.0000392958,EXAC_NFE_AF,EPS8L2
210609,11:709420:G>A,NM_022772.3:c.13G>A,NP_073609.2:p.Gly5Arg,2/21,\N,Unknown significance,\N,missense_variant,23.9,0.000154667,EXAC_NFE_AF,EPS8L2
210610,11:709424:C>T,NM_022772.3:c.17C>T,NP_073609.2:p.Ala6Val,2/21,\N,Likely benign,\N,missense_variant,9.17,0.000286205,EXAC_AMR_AF,EPS8L2
210611,11:709425:C>T,NM_022772.3:c.18C>T,NP_073609.2:p.Ala6=,2/21,\N,Unknown significance,\N,synonymous_variant,10.57,0.000103199,EXAC_SAS_AF,EPS8L2
210612,11:709426:G>A,NM_022772.3:c.19G>A,NP_073609.2:p.Val7Met,2/21,\N,Likely benign,\N,missense_variant,0.021,0.000269833,EXAC_EAS_AF,EPS8L2
210613,11:709426:G>T,NM_022772.3:c.19G>T,NP_073609.2:p.Val7Leu,2/21,\N,Likely benign,\N,missense_variant,0.001,0.0008,1KG_AFR_AF,EPS8L2
210614,11:709433:G>C,NM_022772.3:c.26G>C,NP_073609.2:p.Cys9Ser,2/21,\N,Likely benign,\N,missense_variant,0.07,0.000259875,EXAC_EAS_AF,EPS8L2
210615,11:709434:C>G,NM_022772.3:c.27C>G,NP_073609.2:p.Cys9Trp,2/21,\N,Unknown significance,\N,missense_variant,22.7,0.000201288,EXAC_AFR_AF,EPS8L2
210616,11:709439:C>T,NM_022772.3:c.32C>T,NP_073609.2:p.Pro11Leu,2/21,\N,Likely benign,\N,missense_variant,13.07,0.000249501,EXAC_EAS_AF,EPS8L2
210617,11:709440:G>A,NM_022772.3:c.33G>A,NP_073609.2:p.Pro11=,2/21,\N,Unknown significance,\N,synonymous_variant,7.841,0.000398248,EXAC_AFR_AF,EPS8L2
210618,11:709441:G>A,NM_022772.3:c.34G>A,NP_073609.2:p.Gly12Ser,2/21,\N,Likely benign,\N,missense_variant,13.29,0.0000327268,EXAC_NFE_AF,EPS8L2
210619,11:709449:C>A,NM_022772.3:c.42C>A,NP_073609.2:p.Thr14=,2/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.11,0.000467727,EXAC_EAS_AF,EPS8L2
210620,11:709449:C>CA,NM_022772.3:c.44dup,NP_073609.2:p.Asn15LysfsTer20,2/21,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,\N,\N,\N,EPS8L2
210621,11:709449:C>T,NM_022772.3:c.42C>T,NP_073609.2:p.Thr14=,2/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.82,0.001,1KG_EAS_AF,EPS8L2
210622,11:709455:A>T,NM_022772.3:c.44+4A>T,\N,\N,2/20,Unknown significance,\N,splice_region_variant&intron_variant,9.356,0.0017762,EXAC_AMR_AF,EPS8L2
210623,11:709456:G>A,NM_022772.3:c.44+5G>A,\N,\N,2/20,Unknown significance,\N,splice_region_variant&intron_variant,10.33,0.0000302883,EXAC_NFE_AF,EPS8L2
210624,11:709463:C>A,NM_022772.3:c.44+12C>A,\N,\N,2/20,Unknown significance,\N,intron_variant,0.911,0.000095057,EXAC_SAS_AF,EPS8L2
210625,11:709466:C>A,NM_022772.3:c.44+15C>A,\N,\N,2/20,Unknown significance,\N,intron_variant,6.084,0.000199681,EXAC_AMR_AF,EPS8L2
210626,11:709470:C>T,NM_022772.3:c.44+19C>T,\N,\N,2/20,Unknown significance,\N,intron_variant,4.865,0.0000934929,EXAC_SAS_AF,EPS8L2
210627,11:709478:C>T,NM_022772.3:c.44+27C>T,\N,\N,2/20,Unknown significance,\N,intron_variant,3.908,\N,\N,EPS8L2
210628,11:709495:G>C,NM_022772.3:c.44+44G>C,\N,\N,2/20,Unknown significance,\N,intron_variant,0.032,\N,\N,EPS8L2
210629,11:709498:C>G,NM_022772.3:c.44+47C>G,\N,\N,2/20,Unknown significance,\N,intron_variant,0.765,0.000455996,EVS_AA_AF,EPS8L2
210630,11:709502:C>G,NM_022772.3:c.44+51C>G,\N,\N,2/20,Unknown significance,\N,intron_variant,5.624,0.0000208577,EXAC_NFE_AF,EPS8L2
210631,11:709503:C>T,NM_022772.3:c.45-50C>T,\N,\N,2/20,Unknown significance,\N,intron_variant,8.351,0.0000800384,EXAC_SAS_AF,EPS8L2
210632,11:709506:A>AG,NM_022772.3:c.45-44dup,\N,\N,2/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210633,11:709506:A>T,NM_022772.3:c.45-47A>T,\N,\N,2/20,Unknown significance,\N,intron_variant,0.521,0.000455789,EVS_AA_AF,EPS8L2
210634,11:709519:G>A,NM_022772.3:c.45-34G>A,\N,\N,2/20,Unknown significance,\N,intron_variant,4.264,0.0000183898,EXAC_NFE_AF,EPS8L2
210635,11:709528:T>C,NM_022772.3:c.45-25T>C,\N,\N,2/20,Unknown significance,\N,intron_variant,3.272,\N,\N,EPS8L2
210636,11:709529:G>A,NM_022772.3:c.45-24G>A,\N,\N,2/20,Unknown significance,\N,intron_variant,5.091,0.0000346969,EXAC_NFE_AF,EPS8L2
210637,11:709545:C>T,NM_022772.3:c.45-8C>T,\N,\N,2/20,Unknown significance,\N,splice_region_variant&intron_variant,10.19,0.0014,1KG_AMR_AF,EPS8L2
210638,11:709557:A>T,NM_022772.3:c.49A>T,NP_073609.2:p.Ser17Cys,3/21,\N,Unknown significance,\N,missense_variant,24.2,0.000108319,EXAC_AFR_AF,EPS8L2
210639,11:709559:C>G,NM_022772.3:c.51C>G,NP_073609.2:p.Ser17Arg,3/21,\N,Unknown significance,\N,missense_variant,23.6,\N,\N,EPS8L2
210640,11:709560:C>T,NM_022772.3:c.52C>T,NP_073609.2:p.Leu18=,3/21,\N,Unknown significance,\N,synonymous_variant,13.22,0.000216169,EXAC_AFR_AF,EPS8L2
210641,11:709566:C>T,NM_022772.3:c.58C>T,NP_073609.2:p.Arg20Trp,3/21,\N,Unknown significance,\N,missense_variant,33,0.0000159439,EXAC_NFE_AF,EPS8L2
210642,11:709567:G>A,NM_022772.3:c.59G>A,NP_073609.2:p.Arg20Gln,3/21,\N,Benign,\N,missense_variant,23,0.0591112,EXAC_AFR_AF,EPS8L2
210643,11:709568:G>T,NM_022772.3:c.60G>T,NP_073609.2:p.Arg20=,3/21,\N,Unknown significance,\N,synonymous_variant,8.35,0.000274023,EXAC_AMR_AF,EPS8L2
210644,11:709570:C>G,NM_022772.3:c.62C>G,NP_073609.2:p.Ser21Cys,3/21,\N,Unknown significance,\N,missense_variant,23.5,0.0000911079,EXAC_AMR_AF,EPS8L2
210645,11:709570:C>T,NM_022772.3:c.62C>T,NP_073609.2:p.Ser21Phe,3/21,\N,Unknown significance,\N,missense_variant,23,0.0000475798,EXAC_NFE_AF,EPS8L2
210646,11:709571:C>T,NM_022772.3:c.63C>T,NP_073609.2:p.Ser21=,3/21,\N,Unknown significance,\N,synonymous_variant,10.53,0.0029,1KG_AMR_AF,EPS8L2
210647,11:709572:G>A,NM_022772.3:c.64G>A,NP_073609.2:p.Asp22Asn,3/21,\N,Likely benign,\N,missense_variant,24.7,0.0000633714,EXAC_SAS_AF,EPS8L2
210648,11:709572:G>C,NM_022772.3:c.64G>C,NP_073609.2:p.Asp22His,3/21,\N,Unknown significance,\N,missense_variant,24,0.000189107,EXAC_FIN_AF,EPS8L2
210649,11:709572:G>T,NM_022772.3:c.64G>T,NP_073609.2:p.Asp22Tyr,3/21,\N,Unknown significance,\N,missense_variant,24.3,0.000116333,EVS_EA_AF,EPS8L2
210650,11:709574:C>T,NM_022772.3:c.66C>T,NP_073609.2:p.Asp22=,3/21,\N,Unknown significance,\N,synonymous_variant,11.35,0.0000158218,EXAC_NFE_AF,EPS8L2
210651,11:709575:G>C,NM_022772.3:c.67G>C,NP_073609.2:p.Gly23Arg,3/21,\N,Unknown significance,\N,missense_variant,4.691,0.0008,1KG_AFR_AF,EPS8L2
210652,11:709584:A>G,NM_022772.3:c.76A>G,NP_073609.2:p.Lys26Glu,3/21,\N,Unknown significance,\N,missense_variant,23.9,0.000189298,EXAC_SAS_AF,EPS8L2
210653,11:709585:A>T,NM_022772.3:c.77A>T,NP_073609.2:p.Lys26Met,3/21,\N,Likely benign,\N,missense_variant,22.8,0.0000157337,EXAC_NFE_AF,EPS8L2
210654,11:709586:G>A,NM_022772.3:c.78G>A,NP_073609.2:p.Lys26=,3/21,\N,Unknown significance,\N,synonymous_variant,12.57,0.0000157342,EXAC_NFE_AF,EPS8L2
210655,11:709588:T>C,NM_022772.3:c.80T>C,NP_073609.2:p.Met27Thr,3/21,\N,Likely benign,\N,missense_variant,7.165,0.000581531,EVS_EA_AF,EPS8L2
210656,11:709594:C>T,NM_022772.3:c.86C>T,NP_073609.2:p.Pro29Leu,3/21,\N,Likely benign,\N,missense_variant,24,0.0000906454,EXAC_AMR_AF,EPS8L2
210657,11:709597:A>G,NM_022772.3:c.89A>G,NP_073609.2:p.Lys30Arg,3/21,\N,Unknown significance,\N,missense_variant,21.1,0.001,1KG_EUR_AF,EPS8L2
210658,11:709607:T>C,NM_022772.3:c.99T>C,NP_073609.2:p.Phe33=,3/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,16.02,0.0000638081,EXAC_SAS_AF,EPS8L2
210659,11:709623:A>C,NM_022772.3:c.100+15A>C,\N,\N,3/20,Unknown significance,\N,intron_variant,1.426,0.000123396,EXAC_EAS_AF,EPS8L2
210660,11:709627:C>T,NM_022772.3:c.100+19C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,2.748,0.000330251,EXAC_AFR_AF,EPS8L2
210661,11:709628:G>A,NM_022772.3:c.100+20G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,1.221,0.0000654536,EXAC_SAS_AF,EPS8L2
210662,11:709630:G>A,NM_022772.3:c.100+22G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,2.278,0.000193237,EXAC_AMR_AF,EPS8L2
210663,11:709631:C>G,NM_022772.3:c.100+23C>G,\N,\N,3/20,Unknown significance,\N,intron_variant,3.711,0.000221533,EXAC_AFR_AF,EPS8L2
210664,11:709632:T>C,NM_022772.3:c.100+24T>C,\N,\N,3/20,Unknown significance,\N,intron_variant,3.957,0.0000656599,EXAC_SAS_AF,EPS8L2
210665,11:709636:C>T,NM_022772.3:c.100+28C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,3.072,0.00013245,EXAC_SAS_AF,EPS8L2
210666,11:709637:G>A,NM_022772.3:c.100+29G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,2.273,0.000127226,EXAC_EAS_AF,EPS8L2
210667,11:709640:A>G,NM_022772.3:c.100+32A>G,\N,\N,3/20,Unknown significance,\N,intron_variant,5.252,0.000116387,EVS_EA_AF,EPS8L2
210668,11:709641:CAG>C,NM_022772.3:c.100+34_100+35del,\N,\N,3/20,Unknown significance,\N,intron_variant,8.849,0.00089056,EXAC_AMR_AF,EPS8L2
210669,11:709643:G>A,NM_022772.3:c.100+35G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.475,0.0000170195,EXAC_NFE_AF,EPS8L2
210670,11:709646:G>A,NM_022772.3:c.100+38G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.166,0.0000511108,EXAC_NFE_AF,EPS8L2
210671,11:709651:A>G,NM_022772.3:c.100+43A>G,\N,\N,3/20,Unknown significance,\N,intron_variant,1.887,0.00010142,EXAC_AMR_AF,EPS8L2
210672,11:709654:G>A,NM_022772.3:c.100+46G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,2.55,0.0000174149,EXAC_NFE_AF,EPS8L2
210673,11:709656:C>G,NM_022772.3:c.100+48C>G,\N,\N,3/20,Unknown significance,\N,intron_variant,1.465,0.000207011,EXAC_SAS_AF,EPS8L2
210674,11:709658:CT>C,NM_022772.3:c.100+51del,\N,\N,3/20,Unknown significance,\N,intron_variant,0.862,0.0000177563,EXAC_NFE_AF,EPS8L2
210675,11:709670:G>A,NM_022772.3:c.100+62G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,0.452,\N,\N,EPS8L2
210676,11:709675:A>ACCC,NM_022772.3:c.100+68_100+69insCCC,\N,\N,3/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210677,11:709680:T>C,NM_022772.3:c.100+72T>C,\N,\N,3/20,Benign,\N,intron_variant,1.39,0.9206,1KG_AFR_AF,EPS8L2
210678,11:709725:G>A,NM_022772.3:c.100+117G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,4.441,\N,\N,EPS8L2
210679,11:709733:A>AG,NM_022772.3:c.100+128dup,\N,\N,3/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210680,11:709763:C>T,NM_022772.3:c.100+155C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,0.06,0.0008,1KG_AFR_AF,EPS8L2
210681,11:709787:CCT>C,NM_022772.3:c.100+181_100+182del,\N,\N,3/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210682,11:709788:C>T,NM_022772.3:c.100+180C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,10.06,0.001,1KG_EUR_AF,EPS8L2
210683,11:709791:C>T,NM_022772.3:c.100+183C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,11.24,0.001,1KG_EAS_AF,EPS8L2
210684,11:709794:C>A,NM_022772.3:c.100+186C>A,\N,\N,3/20,Unknown significance,\N,intron_variant,12.22,0.001,1KG_SAS_AF,EPS8L2
210685,11:709800:C>T,NM_022772.3:c.100+192C>T,\N,\N,3/20,Benign,\N,intron_variant,0.053,0.005,1KG_EUR_AF,EPS8L2
210686,11:709838:T>C,NM_022772.3:c.100+230T>C,\N,\N,3/20,Unknown significance,\N,intron_variant,21.7,0.0008,1KG_AFR_AF,EPS8L2
210687,11:709841:A>G,NM_022772.3:c.100+233A>G,\N,\N,3/20,Unknown significance,\N,intron_variant,21.6,0.0008,1KG_AFR_AF,EPS8L2
210688,11:709851:C>T,NM_022772.3:c.100+243C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,7.748,0.0014,1KG_AMR_AF,EPS8L2
210689,11:709852:G>A,NM_022772.3:c.100+244G>A,\N,\N,3/20,Benign,\N,intron_variant,0.127,0.0256,1KG_SAS_AF,EPS8L2
210690,11:709853:C>T,NM_022772.3:c.100+245C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,3.42,\N,\N,EPS8L2
210691,11:709861:A>G,NM_022772.3:c.100+253A>G,\N,\N,3/20,Benign,\N,intron_variant,2.195,0.6104,1KG_AFR_AF,EPS8L2
210692,11:709874:G>C,NM_022772.3:c.100+266G>C,\N,\N,3/20,Unknown significance,\N,intron_variant,6.681,0.0014,1KG_AMR_AF,EPS8L2
210693,11:709904:G>A,NM_022772.3:c.100+296G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,7.872,0.0038,1KG_AFR_AF,EPS8L2
210694,11:709944:A>AC,NM_022772.3:c.100+338dup,\N,\N,3/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210695,11:709973:A>T,NM_022772.3:c.100+365A>T,\N,\N,3/20,Unknown significance,\N,intron_variant,0.065,0.002,1KG_SAS_AF,EPS8L2
210696,11:710004:C>A,NM_022772.3:c.100+396C>A,\N,\N,3/20,Unknown significance,\N,intron_variant,8.133,0.0014,1KG_AMR_AF,EPS8L2
210697,11:710045:C>T,NM_022772.3:c.101-377C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,8.02,0.001,1KG_SAS_AF,EPS8L2
210698,11:710069:G>A,NM_022772.3:c.101-353G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.559,\N,\N,EPS8L2
210699,11:710076:G>A,NM_022772.3:c.101-346G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.815,0.0014,1KG_AMR_AF,EPS8L2
210700,11:710104:C>T,NM_022772.3:c.101-318C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,1.313,0.0029,1KG_AMR_AF,EPS8L2
210701,11:710106:G>C,NM_022772.3:c.101-316G>C,\N,\N,3/20,Unknown significance,\N,intron_variant,1.879,0.0008,1KG_AFR_AF,EPS8L2
210702,11:710113:A>T,NM_022772.3:c.101-309A>T,\N,\N,3/20,Unknown significance,\N,intron_variant,0.249,\N,\N,EPS8L2
210703,11:710135:C>T,NM_022772.3:c.101-287C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,6.42,0.001,1KG_EAS_AF|1KG_EUR_AF,EPS8L2
210704,11:710138:C>T,NM_022772.3:c.101-284C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,0.067,0.0014,1KG_AMR_AF,EPS8L2
210705,11:710139:G>A,NM_022772.3:c.101-283G>A,\N,\N,3/20,Benign,\N,intron_variant,5.221,0.3401,1KG_AMR_AF,EPS8L2
210706,11:710152:C>T,NM_022772.3:c.101-270C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,6.969,0.001,1KG_SAS_AF,EPS8L2
210707,11:710154:C>T,NM_022772.3:c.101-268C>T,\N,\N,3/20,Benign,\N,intron_variant,3.694,0.0061,1KG_AFR_AF,EPS8L2
210708,11:710157:G>C,NM_022772.3:c.101-265G>C,\N,\N,3/20,Unknown significance,\N,intron_variant,0.713,0.0008,1KG_AFR_AF,EPS8L2
210709,11:710158:C>T,NM_022772.3:c.101-264C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,3.8,\N,\N,EPS8L2
210710,11:710173:C>T,NM_022772.3:c.101-249C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,5.113,\N,\N,EPS8L2
210711,11:710229:G>A,NM_022772.3:c.101-193G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.458,0.001,1KG_EUR_AF,EPS8L2
210712,11:710240:G>T,NM_022772.3:c.101-182G>T,\N,\N,3/20,Unknown significance,\N,intron_variant,1.935,0.0031,1KG_SAS_AF,EPS8L2
210713,11:710242:G>A,NM_022772.3:c.101-180G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,3.054,0.001,1KG_EAS_AF,EPS8L2
210714,11:710291:C>G,NM_022772.3:c.101-131C>G,\N,\N,3/20,Unknown significance,\N,intron_variant,4.582,\N,\N,EPS8L2
210715,11:710299:C>T,NM_022772.3:c.101-123C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,5.198,\N,\N,EPS8L2
210716,11:710310:C>T,NM_022772.3:c.101-112C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,2.872,0.004,1KG_EUR_AF,EPS8L2
210717,11:710311:G>A,NM_022772.3:c.101-111G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,3.403,0.001,1KG_SAS_AF,EPS8L2
210718,11:710317:G>A,NM_022772.3:c.101-105G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,4.51,\N,\N,EPS8L2
210719,11:710344:C>T,NM_022772.3:c.101-78C>T,\N,\N,3/20,Benign,\N,intron_variant,8.193,0.0303,1KG_AFR_AF,EPS8L2
210720,11:710361:A>C,NM_022772.3:c.101-61A>C,\N,\N,3/20,Unknown significance,\N,intron_variant,4.567,\N,\N,EPS8L2
210721,11:710373:G>A,NM_022772.3:c.101-49G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,5.053,0.0000866251,EXAC_AMR_AF,EPS8L2
210722,11:710375:C>T,NM_022772.3:c.101-47C>T,\N,\N,3/20,Unknown significance,\N,intron_variant,3.644,0.00112867,EXAC_OTH_AF,EPS8L2
210723,11:710377:G>A,NM_022772.3:c.101-45G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,4.854,0.0000152068,EXAC_NFE_AF,EPS8L2
210724,11:710380:G>A,NM_022772.3:c.101-42G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,7.783,0.0000606428,EXAC_SAS_AF,EPS8L2
210725,11:710389:C>G,NM_022772.3:c.101-33C>G,\N,\N,3/20,Unknown significance,\N,intron_variant,5.446,0.0000866251,EXAC_AMR_AF,EPS8L2
210726,11:710393:G>A,NM_022772.3:c.101-29G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,7.669,0.000151194,EXAC_FIN_AF,EPS8L2
210727,11:710394:G>C,NM_022772.3:c.101-28G>C,\N,\N,3/20,Unknown significance,\N,intron_variant,5.808,0.0000866251,EXAC_AMR_AF,EPS8L2
210728,11:710396:G>A,NM_022772.3:c.101-26G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,7.627,0.0000151971,EXAC_NFE_AF,EPS8L2
210729,11:710400:T>C,NM_022772.3:c.101-22T>C,\N,\N,3/20,Unknown significance,\N,intron_variant,9.02,0.0000866251,EXAC_AMR_AF,EPS8L2
210730,11:710401:G>GACT,NM_022772.3:c.101-20_101-18dup,\N,\N,3/20,Unknown significance,\N,intron_variant,10.46,0.000194818,EXAC_AFR_AF,EPS8L2
210731,11:710405:G>A,NM_022772.3:c.101-17G>A,\N,\N,3/20,Unknown significance,\N,intron_variant,11.13,0.0000151902,EXAC_NFE_AF,EPS8L2
210732,11:710414:C>T,NM_022772.3:c.101-8C>T,\N,\N,3/20,Unknown significance,\N,splice_region_variant&intron_variant,14.24,0.000116279,EVS_EA_AF,EPS8L2
210733,11:710419:C>T,NM_022772.3:c.101-3C>T,\N,\N,3/20,Unknown significance,\N,splice_region_variant&intron_variant,20.2,0.00017322,EXAC_AMR_AF,EPS8L2
210734,11:710425:A>C,NM_022772.3:c.104A>C,NP_073609.2:p.Gln35Pro,4/21,\N,Unknown significance,\N,missense_variant,27.1,0.000015157,EXAC_NFE_AF,EPS8L2
210735,11:710429:G>A,NM_022772.3:c.108G>A,NP_073609.2:p.Arg36=,4/21,\N,Unknown significance,\N,synonymous_variant,14.1,0.0000865801,EXAC_AMR_AF,EPS8L2
210736,11:710431:A>G,NM_022772.3:c.110A>G,NP_073609.2:p.Lys37Arg,4/21,\N,Unknown significance,\N,missense_variant,29.3,0.000232558,EVS_EA_AF,EPS8L2
210737,11:710435:G>T,NM_022772.3:c.114G>T,NP_073609.2:p.Lys38Asn,4/21,\N,Unknown significance,\N,missense_variant,24.6,0.0000606061,EXAC_SAS_AF,EPS8L2
210738,11:710440:C>G,NM_022772.3:c.119C>G,NP_073609.2:p.Ser40Cys,4/21,\N,Unknown significance,\N,missense_variant,31,0.0000151373,EXAC_NFE_AF,EPS8L2
210739,11:710441:C>A,NM_022772.3:c.120C>A,NP_073609.2:p.Ser40=,4/21,\N,Unknown significance,\N,synonymous_variant,19.5,0.0000151359,EXAC_NFE_AF,EPS8L2
210740,11:710444:C>T,NM_022772.3:c.123C>T,NP_073609.2:p.Asn41=,4/21,\N,Unknown significance,\N,synonymous_variant,15.68,0.001,1KG_EUR_AF,EPS8L2
210741,11:710446:C>T,NM_022772.3:c.125C>T,NP_073609.2:p.Ser42Phe,4/21,\N,Unknown significance,\N,missense_variant,33,0.0000151318,EXAC_NFE_AF,EPS8L2
210742,11:710447:C>T,NM_022772.3:c.126C>T,NP_073609.2:p.Ser42=,4/21,\N,Unknown significance,\N,synonymous_variant,17.55,\N,\N,EPS8L2
210743,11:710451:GTCA>G,NM_022772.3:c.135_137del,NP_073609.2:p.Ile45del,4/21,\N,Unknown significance,\N,inframe_deletion,21.6,0.000151194,EXAC_FIN_AF,EPS8L2
210744,11:710451:G>A,NM_022772.3:c.130G>A,NP_073609.2:p.Val44Ile,4/21,\N,Likely benign,\N,missense_variant,16.06,0.00115768,EXAC_EAS_AF,EPS8L2
210745,11:710453:C>G,NM_022772.3:c.132C>G,NP_073609.2:p.Val44=,4/21,\N,Unknown significance,\N,synonymous_variant,14.14,0.0000151295,EXAC_NFE_AF,EPS8L2
210746,11:710455:T>C,NM_022772.3:c.134T>C,NP_073609.2:p.Ile45Thr,4/21,\N,Unknown significance,\N,missense_variant,24.5,0.0000151309,EXAC_NFE_AF,EPS8L2
210747,11:710460:C>T,NM_022772.3:c.139C>T,NP_073609.2:p.His47Tyr,4/21,\N,Unknown significance,\N,missense_variant,23.5,0.0000151272,EXAC_NFE_AF,EPS8L2
210748,11:710462:C>A,NM_022772.3:c.141C>A,NP_073609.2:p.His47Gln,4/21,\N,Likely benign,\N,missense_variant,10.37,0.0014,1KG_AMR_AF,EPS8L2
210749,11:710462:C>T,NM_022772.3:c.141C>T,NP_073609.2:p.His47=,4/21,\N,Unknown significance,\N,synonymous_variant,16.7,\N,\N,EPS8L2
210750,11:710463:G>C,NM_022772.3:c.142G>C,NP_073609.2:p.Glu48Gln,4/21,\N,Unknown significance,\N,missense_variant,27.4,0.000226963,EVS_AA_AF,EPS8L2
210751,11:710464:A>G,NM_022772.3:c.143A>G,NP_073609.2:p.Glu48Gly,4/21,\N,Unknown significance,\N,missense_variant,28.8,0.000115741,EXAC_EAS_AF,EPS8L2
210752,11:710474:G>A,NM_022772.3:c.153G>A,NP_073609.2:p.Gln51=,4/21,\N,Unknown significance,\N,synonymous_variant,10.53,0.00015124,EXAC_NFE_AF,EPS8L2
210753,11:710475:T>A,NM_022772.3:c.154T>A,NP_073609.2:p.Tyr52Asn,4/21,\N,Unknown significance,\N,missense_variant,28.8,0.0000971251,EXAC_AFR_AF,EPS8L2
210754,11:710477:C>A,NM_022772.3:c.156C>A,NP_073609.2:p.Tyr52Ter,4/21,\N,Unknown significance,\N,stop_gained,36,0.0000606134,EXAC_SAS_AF,EPS8L2
210755,11:710480:C>A,NM_022772.3:c.159C>A,NP_073609.2:p.His53Gln,4/21,\N,Unknown significance,\N,missense_variant,23.5,0.0000970874,EXAC_AFR_AF,EPS8L2
210756,11:710484:C>A,NM_022772.3:c.163C>A,NP_073609.2:p.Gln55Lys,4/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.9,0.00068089,EVS_AA_AF,EPS8L2
210757,11:710492:GC>G,NM_022772.3:c.165+10del,\N,\N,4/20,Unknown significance,\N,splice_region_variant&intron_variant,15.4,0.0000866101,EXAC_AMR_AF,EPS8L2
210758,11:710494:CCCGCCCCCAGGTAGGCT>C,NM_022772.3:c.165+20_165+36del,\N,\N,4/20,Unknown significance,\N,intron_variant,14.38,\N,\N,EPS8L2
210759,11:710495:C>G,NM_022772.3:c.165+9C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,13.06,0.000116279,EVS_EA_AF,EPS8L2
210760,11:710495:C>T,NM_022772.3:c.165+9C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,14.28,0.0000606281,EXAC_SAS_AF,EPS8L2
210761,11:710496:C>T,NM_022772.3:c.165+10C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,13.04,0.000333,EXAC_NFE_AF,EPS8L2
210762,11:710503:A>C,NM_022772.3:c.165+17A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,8.449,0.003,1KG_EUR_AF,EPS8L2
210763,11:710506:T>A,NM_022772.3:c.165+20T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,10.17,0.0000151419,EXAC_NFE_AF,EPS8L2
210764,11:710511:T>C,NM_022772.3:c.165+25T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.649,0.000115768,EXAC_EAS_AF,EPS8L2
210765,11:710513:C>T,NM_022772.3:c.165+27C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.481,0.0000151446,EXAC_NFE_AF,EPS8L2
210766,11:710515:C>T,NM_022772.3:c.165+29C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,7.895,0.000115821,EXAC_EAS_AF,EPS8L2
210767,11:710519:C>T,NM_022772.3:c.165+33C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,7.796,0.000116279,EVS_EA_AF,EPS8L2
210768,11:710520:A>T,NM_022772.3:c.165+34A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.606,0.0000302939,EXAC_NFE_AF,EPS8L2
210769,11:710521:G>C,NM_022772.3:c.165+35G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,4.364,0.0000606428,EXAC_SAS_AF,EPS8L2
210770,11:710526:C>G,NM_022772.3:c.165+40C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,7.569,0.00405562,EXAC_EAS_AF,EPS8L2
210771,11:710539:T>C,NM_022772.3:c.165+53T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,3.311,0.0008,1KG_AFR_AF,EPS8L2
210772,11:710542:C>G,NM_022772.3:c.165+56C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.962,0.000628536,EVS_EA_AF,EPS8L2
210773,11:710550:A>T,NM_022772.3:c.165+64A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.134,0.001,1KG_EAS_AF,EPS8L2
210774,11:710558:G>A,NM_022772.3:c.165+72G>A,\N,\N,4/20,Benign,\N,intron_variant,5.688,0.7723,1KG_AFR_AF,EPS8L2
210775,11:710562:C>A,NM_022772.3:c.165+76C>A,\N,\N,4/20,Benign,\N,intron_variant,7.718,0.0053,1KG_AFR_AF,EPS8L2
210776,11:710567:A>C,NM_022772.3:c.165+81A>C,\N,\N,4/20,Benign,\N,intron_variant,2.414,0.3343,1KG_AMR_AF,EPS8L2
210777,11:710568:A>C,NM_022772.3:c.165+82A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.765,0.001,1KG_EUR_AF,EPS8L2
210778,11:710593:G>T,NM_022772.3:c.165+107G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.602,0.001,1KG_EUR_AF,EPS8L2
210779,11:710610:G>A,NM_022772.3:c.165+124G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.812,0.001,1KG_EUR_AF,EPS8L2
210780,11:710627:G>A,NM_022772.3:c.165+141G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,10.57,0.001,1KG_EUR_AF,EPS8L2
210781,11:710635:G>T,NM_022772.3:c.165+149G>T,\N,\N,4/20,Benign,\N,intron_variant,10.36,0.0507,1KG_AFR_AF,EPS8L2
210782,11:710636:AG>A,NM_022772.3:c.165+155del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210783,11:710649:A>T,NM_022772.3:c.165+163A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,9.596,0.001,1KG_EUR_AF,EPS8L2
210784,11:710680:G>T,NM_022772.3:c.165+194G>T,\N,\N,4/20,Benign,\N,intron_variant,1,0.0182,1KG_AFR_AF,EPS8L2
210785,11:710681:A>G,NM_022772.3:c.165+195A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.387,0.001,1KG_EAS_AF,EPS8L2
210786,11:710681:A>T,NM_022772.3:c.165+195A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.092,\N,\N,EPS8L2
210787,11:710684:G>A,NM_022772.3:c.165+198G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.811,0.001,1KG_EUR_AF,EPS8L2
210788,11:710685:C>T,NM_022772.3:c.165+199C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.016,\N,\N,EPS8L2
210789,11:710687:C>T,NM_022772.3:c.165+201C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.305,\N,\N,EPS8L2
210790,11:710688:C>T,NM_022772.3:c.165+202C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.431,0.001,1KG_SAS_AF,EPS8L2
210791,11:710724:T>G,NM_022772.3:c.165+238T>G,\N,\N,4/20,Benign,\N,intron_variant,7.575,0.5212,1KG_AFR_AF,EPS8L2
210792,11:710729:CCT>C,NM_022772.3:c.165+244_165+245del,\N,\N,4/20,Benign,\N,intron_variant,9.438,0.0197,1KG_AFR_AF,EPS8L2
210793,11:710741:C>A,NM_022772.3:c.165+255C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.637,0.0008,1KG_AFR_AF,EPS8L2
210794,11:710741:CGAAAGAGA>C,NM_022772.3:c.165+277_165+284del,\N,\N,4/20,Benign,\N,intron_variant,2.791,0.3064,1KG_AFR_AF,EPS8L2
210795,11:710763:A>G,NM_022772.3:c.165+277A>G,\N,\N,4/20,Benign,\N,intron_variant,0.067,0.3283,1KG_AFR_AF,EPS8L2
210796,11:710763:AGAGA>GGAGG,NM_022772.3:c.165+277_165+281delinsGGAGG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210797,11:710767:A>G,NM_022772.3:c.165+281A>G,\N,\N,4/20,Benign,\N,intron_variant,0.114,0.3283,1KG_AFR_AF,EPS8L2
210798,11:710820:C>A,NM_022772.3:c.165+334C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.001,\N,\N,EPS8L2
210799,11:710843:G>A,NM_022772.3:c.165+357G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.559,\N,\N,EPS8L2
210800,11:710846:G>A,NM_022772.3:c.165+360G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.765,\N,\N,EPS8L2
210801,11:710889:G>A,NM_022772.3:c.165+403G>A,\N,\N,4/20,Benign,\N,intron_variant,4.067,0.0606,1KG_EUR_AF,EPS8L2
210802,11:710913:TTCCAGTCC>T,NM_022772.3:c.165+429_165+436del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210803,11:710914:T>C,NM_022772.3:c.165+428T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.469,0.0008,1KG_AFR_AF,EPS8L2
210804,11:710926:A>C,NM_022772.3:c.165+440A>C,\N,\N,4/20,Benign,\N,intron_variant,1.158,0.0197,1KG_AFR_AF,EPS8L2
210805,11:710938:G>C,NM_022772.3:c.165+452G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.918,0.001,1KG_SAS_AF,EPS8L2
210806,11:710939:G>C,NM_022772.3:c.165+453G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.485,0.0041,1KG_SAS_AF,EPS8L2
210807,11:710982:G>A,NM_022772.3:c.165+496G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.44,\N,\N,EPS8L2
210808,11:711016:G>A,NM_022772.3:c.165+530G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,8.182,\N,\N,EPS8L2
210809,11:711017:A>T,NM_022772.3:c.165+531A>T,\N,\N,4/20,Benign,\N,intron_variant,6.472,0.0113,1KG_AFR_AF,EPS8L2
210810,11:711069:G>T,NM_022772.3:c.165+583G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.611,0.003,1KG_EUR_AF,EPS8L2
210811,11:711089:G>A,NM_022772.3:c.165+603G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.527,0.001,1KG_EUR_AF,EPS8L2
210812,11:711110:C>T,NM_022772.3:c.165+624C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.685,\N,\N,EPS8L2
210813,11:711126:A>G,NM_022772.3:c.165+640A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.731,0.0045,1KG_AFR_AF,EPS8L2
210814,11:711129:C>T,NM_022772.3:c.165+643C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,8.021,0.0008,1KG_AFR_AF,EPS8L2
210815,11:711145:C>A,NM_022772.3:c.165+659C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,7.862,\N,\N,EPS8L2
210816,11:711148:C>T,NM_022772.3:c.165+662C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.067,\N,\N,EPS8L2
210817,11:711149:G>A,NM_022772.3:c.165+663G>A,\N,\N,4/20,Benign,\N,intron_variant,5.492,0.1829,1KG_EUR_AF,EPS8L2
210818,11:711204:A>G,NM_022772.3:c.165+718A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.823,0.0014,1KG_AMR_AF,EPS8L2
210819,11:711206:G>T,NM_022772.3:c.165+720G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.88,0.002,1KG_EAS_AF,EPS8L2
210820,11:711212:C>T,NM_022772.3:c.165+726C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.679,\N,\N,EPS8L2
210821,11:711214:C>A,NM_022772.3:c.165+728C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,7.051,0.001,1KG_EAS_AF,EPS8L2
210822,11:711216:G>A,NM_022772.3:c.165+730G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.263,\N,\N,EPS8L2
210823,11:711229:T>G,NM_022772.3:c.165+743T>G,\N,\N,4/20,Benign,\N,intron_variant,3.235,0.0166,1KG_AFR_AF,EPS8L2
210824,11:711238:T>G,NM_022772.3:c.165+752T>G,\N,\N,4/20,Benign,\N,intron_variant,2.391,0.0219,1KG_AFR_AF,EPS8L2
210825,11:711238:T>TTGTGTGCG,NM_022772.3:c.165+771_165+778dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210826,11:711238:TTGTGTGCG>T,NM_022772.3:c.165+771_165+778del,\N,\N,4/20,Unknown significance,\N,intron_variant,4.997,\N,\N,EPS8L2
210827,11:711253:CGTGT>C,NM_022772.3:c.165+771_165+774del,\N,\N,4/20,Benign,\N,intron_variant,4.818,0.2594,1KG_AMR_AF,EPS8L2
210828,11:711253:CGTGTGT>C,NM_022772.3:c.165+769_165+774del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210829,11:711254:G>A,NM_022772.3:c.165+768G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.891,\N,\N,EPS8L2
210830,11:711257:T>C,NM_022772.3:c.165+771T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.66,\N,\N,EPS8L2
210831,11:711257:TGTGC>T,NM_022772.3:c.165+783_165+786del,\N,\N,4/20,Unknown significance,\N,intron_variant,4.576,\N,\N,EPS8L2
210832,11:711259:TGCGTGC>T,NM_022772.3:c.165+775_165+780del,\N,\N,4/20,Unknown significance,\N,intron_variant,4.299,\N,\N,EPS8L2
210833,11:711259:TGCGTGCGTGC>T,NM_022772.3:c.165+775_165+784del,\N,\N,4/20,Unknown significance,\N,intron_variant,3.926,\N,\N,EPS8L2
210834,11:711261:C>CGTGT,NM_022772.3:c.165+778_165+779insTGTG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210835,11:711261:C>T,NM_022772.3:c.165+775C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,6.457,\N,\N,EPS8L2
210836,11:711265:C>A,NM_022772.3:c.165+779C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,6.896,\N,\N,EPS8L2
210837,11:711265:C>T,NM_022772.3:c.165+779C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,6.198,\N,\N,EPS8L2
210838,11:711267:T>TGC,NM_022772.3:c.165+783_165+784dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210839,11:711267:T>TGTGG,NM_022772.3:c.165+782_165+783insTGGG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210840,11:711267:TGC>T,NM_022772.3:c.165+783_165+784del,\N,\N,4/20,Benign,\N,intron_variant,4.885,0.268,1KG_AMR_AF,EPS8L2
210841,11:711268:G>GGC,NM_022772.3:c.165+782_165+783insGC,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210842,11:711269:C>T,NM_022772.3:c.165+783C>T,\N,\N,4/20,Benign,\N,intron_variant,1.28,0.4625,1KG_AMR_AF,EPS8L2
210843,11:711269:CGT>C,NM_022772.3:c.165+804_165+805del,\N,\N,4/20,Unknown significance,\N,intron_variant,4.532,\N,\N,EPS8L2
210844,11:711271:T>C,NM_022772.3:c.165+785T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.565,\N,\N,EPS8L2
210845,11:711292:C>G,NM_022772.3:c.165+806C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.909,\N,\N,EPS8L2
210846,11:711294:T>C,NM_022772.3:c.165+808T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.198,\N,\N,EPS8L2
210847,11:711308:CT>C,NM_022772.3:c.165+825del,\N,\N,4/20,Benign,\N,intron_variant,5.239,0.0182,1KG_AFR_AF,EPS8L2
210848,11:711314:CTCTCTCTCTG>C,NM_022772.3:c.165+838_165+847del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210849,11:711324:G>C,NM_022772.3:c.165+838G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.011,\N,\N,EPS8L2
210850,11:711326:C>G,NM_022772.3:c.165+840C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.709,\N,\N,EPS8L2
210851,11:711338:TTTTC>T,NM_022772.3:c.165+861_165+864del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210852,11:711356:G>A,NM_022772.3:c.165+870G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,8.566,\N,\N,EPS8L2
210853,11:711383:G>A,NM_022772.3:c.165+897G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,15.01,0.002,1KG_SAS_AF,EPS8L2
210854,11:711403:T>G,NM_022772.3:c.165+917T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.611,\N,\N,EPS8L2
210855,11:711421:C>T,NM_022772.3:c.165+935C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,6.63,\N,\N,EPS8L2
210856,11:711448:T>C,NM_022772.3:c.165+962T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.25,0.001,1KG_EUR_AF,EPS8L2
210857,11:711472:A>G,NM_022772.3:c.165+986A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.268,\N,\N,EPS8L2
210858,11:711476:G>A,NM_022772.3:c.165+990G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.109,\N,\N,EPS8L2
210859,11:711485:A>C,NM_022772.3:c.165+999A>C,\N,\N,4/20,Benign,\N,intron_variant,2.117,0.0202,1KG_AMR_AF,EPS8L2
210860,11:711486:C>T,NM_022772.3:c.165+1000C>T,\N,\N,4/20,Benign,\N,intron_variant,3.193,0.0258,1KG_EAS_AF,EPS8L2
210861,11:711543:T>C,NM_022772.3:c.165+1057T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,6.681,0.0038,1KG_AFR_AF,EPS8L2
210862,11:711574:C>T,NM_022772.3:c.165+1088C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,8.314,0.003,1KG_EAS_AF,EPS8L2
210863,11:711592:C>T,NM_022772.3:c.165+1106C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,8.818,0.0015,1KG_AFR_AF,EPS8L2
210864,11:711596:C>A,NM_022772.3:c.165+1110C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,8.489,\N,\N,EPS8L2
210865,11:711596:C>G,NM_022772.3:c.165+1110C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,7.137,0.001,1KG_EUR_AF,EPS8L2
210866,11:711625:C>A,NM_022772.3:c.165+1139C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,6.62,0.001,1KG_EUR_AF,EPS8L2
210867,11:711659:G>T,NM_022772.3:c.165+1173G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.389,\N,\N,EPS8L2
210868,11:711669:C>T,NM_022772.3:c.165+1183C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.052,\N,\N,EPS8L2
210869,11:711692:C>G,NM_022772.3:c.165+1206C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,12.67,\N,\N,EPS8L2
210870,11:711708:G>T,NM_022772.3:c.165+1222G>T,\N,\N,4/20,Benign,\N,intron_variant,15.31,0.0268,1KG_EAS_AF,EPS8L2
210871,11:711712:G>A,NM_022772.3:c.165+1226G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,17.72,0.001,1KG_SAS_AF,EPS8L2
210872,11:711715:G>T,NM_022772.3:c.165+1229G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,17.1,\N,\N,EPS8L2
210873,11:711715:GGC>TGT,NM_022772.3:c.165+1229_165+1231delinsTGT,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210874,11:711717:C>T,NM_022772.3:c.165+1231C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,17.3,\N,\N,EPS8L2
210875,11:711721:C>T,NM_022772.3:c.165+1235C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,16.6,\N,\N,EPS8L2
210876,11:711721:CG>TA,NM_022772.3:c.165+1235_165+1236delinsTA,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210877,11:711746:G>T,NM_022772.3:c.165+1260G>T,\N,\N,4/20,Benign,\N,intron_variant,10.44,0.0268,1KG_EAS_AF,EPS8L2
210878,11:711749:T>C,NM_022772.3:c.165+1263T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,9.359,\N,\N,EPS8L2
210879,11:711754:T>C,NM_022772.3:c.165+1268T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.506,\N,\N,EPS8L2
210880,11:711754:TGA>CGG,NM_022772.3:c.165+1268_165+1270delinsCGG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210881,11:711765:T>C,NM_022772.3:c.165+1279T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.031,\N,\N,EPS8L2
210882,11:711770:G>C,NM_022772.3:c.165+1284G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.527,\N,\N,EPS8L2
210883,11:711773:T>C,NM_022772.3:c.165+1287T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.57,\N,\N,EPS8L2
210884,11:711781:T>C,NM_022772.3:c.165+1295T>C,\N,\N,4/20,Benign,\N,intron_variant,0.623,0.9236,1KG_AFR_AF,EPS8L2
210885,11:711787:C>T,NM_022772.3:c.165+1301C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.822,0.001,1KG_EAS_AF,EPS8L2
210886,11:711819:A>G,NM_022772.3:c.165+1333A>G,\N,\N,4/20,Benign,\N,intron_variant,2.978,0.1536,1KG_AFR_AF,EPS8L2
210887,11:711824:A>C,NM_022772.3:c.165+1338A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.534,0.002,1KG_EAS_AF,EPS8L2
210888,11:711826:A>G,NM_022772.3:c.165+1340A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.278,0.001,1KG_EUR_AF,EPS8L2
210889,11:711833:A>G,NM_022772.3:c.165+1347A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.444,\N,\N,EPS8L2
210890,11:711839:C>T,NM_022772.3:c.165+1353C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.923,0.002,1KG_SAS_AF,EPS8L2
210891,11:711840:A>G,NM_022772.3:c.165+1354A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.205,\N,\N,EPS8L2
210892,11:711843:C>T,NM_022772.3:c.165+1357C>T,\N,\N,4/20,Benign,\N,intron_variant,0.375,0.0268,1KG_EAS_AF,EPS8L2
210893,11:711857:C>T,NM_022772.3:c.165+1371C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.612,0.0014,1KG_AMR_AF,EPS8L2
210894,11:711858:C>T,NM_022772.3:c.165+1372C>T,\N,\N,4/20,Benign,\N,intron_variant,2.221,0.0169,1KG_EAS_AF,EPS8L2
210895,11:711877:G>A,NM_022772.3:c.165+1391G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,6.771,0.001,1KG_SAS_AF,EPS8L2
210896,11:711931:C>T,NM_022772.3:c.165+1445C>T,\N,\N,4/20,Benign,\N,intron_variant,2.072,0.0182,1KG_AFR_AF,EPS8L2
210897,11:711970:G>A,NM_022772.3:c.165+1484G>A,\N,\N,4/20,Benign,\N,intron_variant,0.1,0.2649,1KG_EAS_AF,EPS8L2
210898,11:711991:GA>G,NM_022772.3:c.165+1515del,\N,\N,4/20,Unknown significance,\N,intron_variant,0.138,\N,\N,EPS8L2
210899,11:711994:A>G,NM_022772.3:c.165+1508A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.624,0.0014,1KG_AMR_AF,EPS8L2
210900,11:712012:G>A,NM_022772.3:c.165+1526G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.136,0.001,1KG_SAS_AF,EPS8L2
210901,11:712051:C>A,NM_022772.3:c.165+1565C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.808,\N,\N,EPS8L2
210902,11:712051:C>T,NM_022772.3:c.165+1565C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.873,0.001,1KG_EUR_AF,EPS8L2
210903,11:712052:G>A,NM_022772.3:c.165+1566G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.289,0.003,1KG_EUR_AF,EPS8L2
210904,11:712061:G>A,NM_022772.3:c.165+1575G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,7.718,0.0008,1KG_AFR_AF,EPS8L2
210905,11:712063:A>G,NM_022772.3:c.165+1577A>G,\N,\N,4/20,Benign,\N,intron_variant,8.331,0.0189,1KG_AFR_AF,EPS8L2
210906,11:712072:C>T,NM_022772.3:c.165+1586C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.16,0.0043,1KG_AMR_AF,EPS8L2
210907,11:712106:T>C,NM_022772.3:c.165+1620T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,11.02,\N,\N,EPS8L2
210908,11:712107:G>A,NM_022772.3:c.165+1621G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,11.23,\N,\N,EPS8L2
210909,11:712113:C>T,NM_022772.3:c.165+1627C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,10.54,\N,\N,EPS8L2
210910,11:712117:C>G,NM_022772.3:c.165+1631C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,8.517,\N,\N,EPS8L2
210911,11:712174:T>C,NM_022772.3:c.165+1688T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,4.063,\N,\N,EPS8L2
210912,11:712184:G>A,NM_022772.3:c.165+1698G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.621,\N,\N,EPS8L2
210913,11:712221:G>A,NM_022772.3:c.165+1735G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.998,\N,\N,EPS8L2
210914,11:712234:C>T,NM_022772.3:c.165+1748C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.221,0.001,1KG_EUR_AF,EPS8L2
210915,11:712235:G>A,NM_022772.3:c.165+1749G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.498,0.001,1KG_EAS_AF,EPS8L2
210916,11:712242:C>T,NM_022772.3:c.165+1756C>T,\N,\N,4/20,Benign,\N,intron_variant,0.369,0.0484,1KG_AFR_AF,EPS8L2
210917,11:712243:G>A,NM_022772.3:c.165+1757G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.222,0.0038,1KG_AFR_AF,EPS8L2
210918,11:712299:A>T,NM_022772.3:c.165+1813A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.372,\N,\N,EPS8L2
210919,11:712335:G>A,NM_022772.3:c.165+1849G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.914,0.0008,1KG_AFR_AF,EPS8L2
210920,11:712356:G>A,NM_022772.3:c.165+1870G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.066,0.001,1KG_EAS_AF,EPS8L2
210921,11:712370:C>T,NM_022772.3:c.165+1884C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.407,0.001,1KG_EUR_AF,EPS8L2
210922,11:712413:C>G,NM_022772.3:c.165+1927C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.569,\N,\N,EPS8L2
210923,11:712443:G>A,NM_022772.3:c.165+1957G>A,\N,\N,4/20,Benign,\N,intron_variant,0.604,0.0072,1KG_SAS_AF,EPS8L2
210924,11:712449:C>G,NM_022772.3:c.165+1963C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.444,\N,\N,EPS8L2
210925,11:712457:C>T,NM_022772.3:c.165+1971C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.513,0.0008,1KG_AFR_AF,EPS8L2
210926,11:712479:G>A,NM_022772.3:c.165+1993G>A,\N,\N,4/20,Benign,\N,intron_variant,2.296,0.0072,1KG_SAS_AF,EPS8L2
210927,11:712485:C>G,NM_022772.3:c.165+1999C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.694,\N,\N,EPS8L2
210928,11:712485:C>T,NM_022772.3:c.165+1999C>T,\N,\N,4/20,Benign,\N,intron_variant,1.353,0.2458,1KG_AFR_AF,EPS8L2
210929,11:712501:C>T,NM_022772.3:c.165+2015C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.689,0.001,1KG_SAS_AF,EPS8L2
210930,11:712520:TG>T,NM_022772.3:c.165+2036del,\N,\N,4/20,Unknown significance,\N,intron_variant,4.423,0.0029,1KG_AMR_AF,EPS8L2
210931,11:712521:G>C,NM_022772.3:c.165+2035G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.041,0.001,1KG_EUR_AF,EPS8L2
210932,11:712534:A>G,NM_022772.3:c.165+2048A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,6.208,\N,\N,EPS8L2
210933,11:712583:T>G,NM_022772.3:c.165+2097T>G,\N,\N,4/20,Benign,\N,intron_variant,0.609,0.1036,1KG_AFR_AF,EPS8L2
210934,11:712611:A>G,NM_022772.3:c.165+2125A>G,\N,\N,4/20,Benign,\N,intron_variant,1.258,0.168,1KG_EUR_AF,EPS8L2
210935,11:712625:G>A,NM_022772.3:c.165+2139G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.35,0.001,1KG_EAS_AF,EPS8L2
210936,11:712695:T>C,NM_022772.3:c.165+2209T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.594,0.0014,1KG_AMR_AF,EPS8L2
210937,11:712711:C>T,NM_022772.3:c.165+2225C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.571,\N,\N,EPS8L2
210938,11:712712:G>A,NM_022772.3:c.165+2226G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.084,0.0008,1KG_AFR_AF,EPS8L2
210939,11:712721:A>G,NM_022772.3:c.165+2235A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.018,0.0014,1KG_AMR_AF,EPS8L2
210940,11:712724:G>T,NM_022772.3:c.165+2238G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.382,0.0008,1KG_AFR_AF,EPS8L2
210941,11:712743:A>C,NM_022772.3:c.165+2257A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.114,0.0015,1KG_AFR_AF,EPS8L2
210942,11:712762:C>T,NM_022772.3:c.165+2276C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.957,0.001,1KG_SAS_AF,EPS8L2
210943,11:712766:C>T,NM_022772.3:c.165+2280C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.049,\N,\N,EPS8L2
210944,11:712779:C>T,NM_022772.3:c.165+2293C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.154,0.001,1KG_SAS_AF,EPS8L2
210945,11:712784:G>C,NM_022772.3:c.165+2298G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.034,0.0014,1KG_AMR_AF,EPS8L2
210946,11:712789:C>G,NM_022772.3:c.165+2303C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.276,\N,\N,EPS8L2
210947,11:712796:G>C,NM_022772.3:c.165+2310G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.373,0.002,1KG_EUR_AF,EPS8L2
210948,11:712835:C>T,NM_022772.3:c.165+2349C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.106,0.001,1KG_EAS_AF,EPS8L2
210949,11:712839:G>A,NM_022772.3:c.165+2353G>A,\N,\N,4/20,Benign,\N,intron_variant,2.733,0.0069,1KG_EAS_AF,EPS8L2
210950,11:712847:C>T,NM_022772.3:c.165+2361C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.455,\N,\N,EPS8L2
210951,11:712878:C>T,NM_022772.3:c.165+2392C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.763,0.004,1KG_EAS_AF,EPS8L2
210952,11:712879:G>A,NM_022772.3:c.165+2393G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.804,\N,\N,EPS8L2
210953,11:712923:C>T,NM_022772.3:c.165+2437C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.018,\N,\N,EPS8L2
210954,11:712939:T>G,NM_022772.3:c.165+2453T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.958,0.001,1KG_SAS_AF,EPS8L2
210955,11:713006:C>T,NM_022772.3:c.165+2520C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.216,0.001,1KG_EAS_AF,EPS8L2
210956,11:713026:C>CGT,NM_022772.3:c.165+2541_165+2542dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
210957,11:713026:CGT>C,NM_022772.3:c.165+2541_165+2542del,\N,\N,4/20,Benign,\N,intron_variant,2.849,0.3234,1KG_EAS_AF,EPS8L2
210958,11:713027:G>C,NM_022772.3:c.165+2541G>C,\N,\N,4/20,Benign,\N,intron_variant,0.258,0.0113,1KG_AFR_AF,EPS8L2
210959,11:713088:C>T,NM_022772.3:c.165+2602C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.072,\N,\N,EPS8L2
210960,11:713101:G>A,NM_022772.3:c.165+2615G>A,\N,\N,4/20,Benign,\N,intron_variant,7.004,0.1044,1KG_AFR_AF,EPS8L2
210961,11:713119:G>A,NM_022772.3:c.165+2633G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.171,\N,\N,EPS8L2
210962,11:713134:A>T,NM_022772.3:c.165+2648A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.354,0.001,1KG_SAS_AF,EPS8L2
210963,11:713275:C>A,NM_022772.3:c.165+2789C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.168,0.0014,1KG_AMR_AF,EPS8L2
210964,11:713285:G>A,NM_022772.3:c.165+2799G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.324,0.001,1KG_SAS_AF,EPS8L2
210965,11:713295:C>T,NM_022772.3:c.165+2809C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.405,0.001,1KG_EAS_AF,EPS8L2
210966,11:713323:G>A,NM_022772.3:c.165+2837G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.254,\N,\N,EPS8L2
210967,11:713335:T>C,NM_022772.3:c.165+2849T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.561,\N,\N,EPS8L2
210968,11:713380:T>C,NM_022772.3:c.165+2894T>C,\N,\N,4/20,Benign,\N,intron_variant,0.596,0.0166,1KG_AFR_AF,EPS8L2
210969,11:713384:G>A,NM_022772.3:c.165+2898G>A,\N,\N,4/20,Benign,\N,intron_variant,1.754,0.0053,1KG_AFR_AF,EPS8L2
210970,11:713394:G>T,NM_022772.3:c.165+2908G>T,\N,\N,4/20,Benign,\N,intron_variant,0.614,0.0212,1KG_AFR_AF,EPS8L2
210971,11:713444:C>T,NM_022772.3:c.165+2958C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.199,0.001,1KG_SAS_AF,EPS8L2
210972,11:713445:G>A,NM_022772.3:c.165+2959G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.016,0.001,1KG_SAS_AF,EPS8L2
210973,11:713459:G>A,NM_022772.3:c.165+2973G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.317,0.001,1KG_SAS_AF,EPS8L2
210974,11:713485:C>T,NM_022772.3:c.165+2999C>T,\N,\N,4/20,Benign,\N,intron_variant,0.37,0.0492,1KG_AFR_AF,EPS8L2
210975,11:713526:C>T,NM_022772.3:c.165+3040C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.246,0.001,1KG_EAS_AF,EPS8L2
210976,11:713530:C>T,NM_022772.3:c.165+3044C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.051,\N,\N,EPS8L2
210977,11:713535:C>A,NM_022772.3:c.165+3049C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.182,\N,\N,EPS8L2
210978,11:713538:C>T,NM_022772.3:c.165+3052C>T,\N,\N,4/20,Benign,\N,intron_variant,1.452,0.0082,1KG_SAS_AF,EPS8L2
210979,11:713539:G>A,NM_022772.3:c.165+3053G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.724,0.0041,1KG_SAS_AF,EPS8L2
210980,11:713541:C>G,NM_022772.3:c.165+3055C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.404,\N,\N,EPS8L2
210981,11:713541:C>T,NM_022772.3:c.165+3055C>T,\N,\N,4/20,Benign,\N,intron_variant,2.322,0.0295,1KG_AFR_AF,EPS8L2
210982,11:713554:T>C,NM_022772.3:c.165+3068T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.833,\N,\N,EPS8L2
210983,11:713565:G>A,NM_022772.3:c.165+3079G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.55,0.0014,1KG_AMR_AF,EPS8L2
210984,11:713568:A>G,NM_022772.3:c.165+3082A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.097,\N,\N,EPS8L2
210985,11:713572:T>C,NM_022772.3:c.165+3086T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.627,0.0008,1KG_AFR_AF,EPS8L2
210986,11:713576:A>G,NM_022772.3:c.165+3090A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.194,\N,\N,EPS8L2
210987,11:713578:C>T,NM_022772.3:c.165+3092C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.818,\N,\N,EPS8L2
210988,11:713587:T>C,NM_022772.3:c.165+3101T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.13,\N,\N,EPS8L2
210989,11:713600:G>A,NM_022772.3:c.165+3114G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.03,\N,\N,EPS8L2
210990,11:713601:G>A,NM_022772.3:c.165+3115G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.244,\N,\N,EPS8L2
210991,11:713606:G>A,NM_022772.3:c.165+3120G>A,\N,\N,4/20,Benign,\N,intron_variant,0.101,0.0072,1KG_SAS_AF,EPS8L2
210992,11:713607:T>C,NM_022772.3:c.165+3121T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.114,\N,\N,EPS8L2
210993,11:713613:T>C,NM_022772.3:c.165+3127T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.979,\N,\N,EPS8L2
210994,11:713614:G>A,NM_022772.3:c.165+3128G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.518,\N,\N,EPS8L2
210995,11:713616:T>C,NM_022772.3:c.165+3130T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.407,\N,\N,EPS8L2
210996,11:713631:G>A,NM_022772.3:c.165+3145G>A,\N,\N,4/20,Benign,\N,intron_variant,0.462,0.005,1KG_EAS_AF,EPS8L2
210997,11:713639:G>A,NM_022772.3:c.165+3153G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.229,0.0008,1KG_AFR_AF,EPS8L2
210998,11:713640:G>C,NM_022772.3:c.165+3154G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.295,0.001,1KG_EUR_AF,EPS8L2
210999,11:713645:A>G,NM_022772.3:c.165+3159A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.846,0.0008,1KG_AFR_AF,EPS8L2
211000,11:713646:G>A,NM_022772.3:c.165+3160G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.946,0.002,1KG_EAS_AF,EPS8L2
211001,11:713661:C>T,NM_022772.3:c.165+3175C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.363,\N,\N,EPS8L2
211002,11:713691:C>G,NM_022772.3:c.165+3205C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.141,\N,\N,EPS8L2
211003,11:713691:C>T,NM_022772.3:c.165+3205C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.361,0.0008,1KG_AFR_AF,EPS8L2
211004,11:713692:G>A,NM_022772.3:c.165+3206G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.27,0.0045,1KG_AFR_AF,EPS8L2
211005,11:713693:C>T,NM_022772.3:c.165+3207C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.55,\N,\N,EPS8L2
211006,11:713704:C>A,NM_022772.3:c.165+3218C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.144,0.0014,1KG_AMR_AF,EPS8L2
211007,11:713708:C>A,NM_022772.3:c.165+3222C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.424,0.001,1KG_SAS_AF,EPS8L2
211008,11:713717:TA>T,NM_022772.3:c.165+3232del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211009,11:713761:G>A,NM_022772.3:c.165+3275G>A,\N,\N,4/20,Benign,\N,intron_variant,0.601,0.0371,1KG_AFR_AF,EPS8L2
211010,11:713763:C>T,NM_022772.3:c.165+3277C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.628,0.001,1KG_EAS_AF,EPS8L2
211011,11:713782:T>C,NM_022772.3:c.165+3296T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.268,\N,\N,EPS8L2
211012,11:713789:A>AC,NM_022772.3:c.165+3306dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211013,11:713809:G>C,NM_022772.3:c.165+3323G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.058,\N,\N,EPS8L2
211014,11:713814:G>A,NM_022772.3:c.165+3328G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.755,\N,\N,EPS8L2
211015,11:713826:G>A,NM_022772.3:c.165+3340G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.078,0.001,1KG_EAS_AF,EPS8L2
211016,11:713835:C>T,NM_022772.3:c.165+3349C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.608,\N,\N,EPS8L2
211017,11:713850:T>C,NM_022772.3:c.165+3364T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.33,0.0038,1KG_AFR_AF,EPS8L2
211018,11:713870:TGG>T,NM_022772.3:c.165+3387_165+3388del,\N,\N,4/20,Unknown significance,\N,intron_variant,2.399,0.003,1KG_EAS_AF,EPS8L2
211019,11:713880:C>T,NM_022772.3:c.165+3394C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.859,\N,\N,EPS8L2
211020,11:713912:C>T,NM_022772.3:c.165+3426C>T,\N,\N,4/20,Benign,\N,intron_variant,1.038,0.4452,1KG_AMR_AF,EPS8L2
211021,11:713968:C>T,NM_022772.3:c.165+3482C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.187,0.001,1KG_EUR_AF,EPS8L2
211022,11:713975:T>C,NM_022772.3:c.165+3489T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.317,0.001,1KG_EAS_AF,EPS8L2
211023,11:713985:G>A,NM_022772.3:c.165+3499G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.402,\N,\N,EPS8L2
211024,11:714022:C>T,NM_022772.3:c.165+3536C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.621,0.0008,1KG_AFR_AF,EPS8L2
211025,11:714026:C>T,NM_022772.3:c.165+3540C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.92,0.001,1KG_SAS_AF,EPS8L2
211026,11:714033:C>T,NM_022772.3:c.165+3547C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.848,\N,\N,EPS8L2
211027,11:714070:G>A,NM_022772.3:c.165+3584G>A,\N,\N,4/20,Benign,\N,intron_variant,2.644,0.0051,1KG_SAS_AF,EPS8L2
211028,11:714081:G>A,NM_022772.3:c.165+3595G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.082,\N,\N,EPS8L2
211029,11:714110:T>A,NM_022772.3:c.165+3624T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.791,\N,\N,EPS8L2
211030,11:714148:T>A,NM_022772.3:c.165+3662T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.946,0.0015,1KG_AFR_AF,EPS8L2
211031,11:714153:A>G,NM_022772.3:c.165+3667A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.295,\N,\N,EPS8L2
211032,11:714154:T>A,NM_022772.3:c.165+3668T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.97,0.0014,1KG_AMR_AF,EPS8L2
211033,11:714162:G>T,NM_022772.3:c.165+3676G>T,\N,\N,4/20,Benign,\N,intron_variant,0.05,0.0303,1KG_AFR_AF,EPS8L2
211034,11:714224:C>T,NM_022772.3:c.165+3738C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.582,\N,\N,EPS8L2
211035,11:714236:C>CT,NM_022772.3:c.165+3761dup,\N,\N,4/20,Benign,\N,intron_variant,3.157,0.4899,1KG_AMR_AF,EPS8L2
211036,11:714241:T>C,NM_022772.3:c.165+3755T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.966,0.001,1KG_EAS_AF,EPS8L2
211037,11:714290:C>T,NM_022772.3:c.165+3804C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.122,\N,\N,EPS8L2
211038,11:714293:G>A,NM_022772.3:c.165+3807G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.502,0.0008,1KG_AFR_AF,EPS8L2
211039,11:714296:C>A,NM_022772.3:c.165+3810C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.58,0.002,1KG_SAS_AF,EPS8L2
211040,11:714317:C>T,NM_022772.3:c.165+3831C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.823,\N,\N,EPS8L2
211041,11:714325:G>A,NM_022772.3:c.165+3839G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.212,\N,\N,EPS8L2
211042,11:714363:G>C,NM_022772.3:c.165+3877G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.658,0.0008,1KG_AFR_AF,EPS8L2
211043,11:714378:C>T,NM_022772.3:c.165+3892C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.817,0.001,1KG_EAS_AF,EPS8L2
211044,11:714384:C>A,NM_022772.3:c.165+3898C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.273,0.001,1KG_SAS_AF,EPS8L2
211045,11:714390:C>T,NM_022772.3:c.165+3904C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.226,0.0029,1KG_AMR_AF,EPS8L2
211046,11:714398:T>G,NM_022772.3:c.165+3912T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.574,\N,\N,EPS8L2
211047,11:714407:T>C,NM_022772.3:c.165+3921T>C,\N,\N,4/20,Benign,\N,intron_variant,0.453,0.0166,1KG_AFR_AF,EPS8L2
211048,11:714411:A>G,NM_022772.3:c.165+3925A>G,\N,\N,4/20,Benign,\N,intron_variant,0.157,0.0418,1KG_AMR_AF,EPS8L2
211049,11:714451:G>T,NM_022772.3:c.165+3965G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.123,\N,\N,EPS8L2
211050,11:714497:C>T,NM_022772.3:c.165+4011C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.108,0.001,1KG_SAS_AF,EPS8L2
211051,11:714506:C>T,NM_022772.3:c.165+4020C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.218,\N,\N,EPS8L2
211052,11:714511:G>A,NM_022772.3:c.165+4025G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.14,\N,\N,EPS8L2
211053,11:714517:C>T,NM_022772.3:c.165+4031C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.31,0.0014,1KG_AMR_AF,EPS8L2
211054,11:714520:C>T,NM_022772.3:c.165+4034C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.301,0.001,1KG_EUR_AF,EPS8L2
211055,11:714566:AG>A,NM_022772.3:c.165+4082del,\N,\N,4/20,Benign,\N,intron_variant,0.769,0.0204,1KG_AFR_AF,EPS8L2
211056,11:714592:C>CATTTT,NM_022772.3:c.165+4131_165+4135dup,\N,\N,4/20,Unknown significance,\N,intron_variant,4.692,\N,\N,EPS8L2
211057,11:714592:CATTTT>C,NM_022772.3:c.165+4131_165+4135del,\N,\N,4/20,Unknown significance,\N,intron_variant,5.773,\N,\N,EPS8L2
211058,11:714606:T>A,NM_022772.3:c.165+4120T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.012,0.001,1KG_EAS_AF,EPS8L2
211059,11:714609:T>TTTTTA,NM_022772.3:c.165+4126_165+4127insTATTT,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211060,11:714622:A>T,NM_022772.3:c.165+4136A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.47,\N,\N,EPS8L2
211061,11:714623:T>C,NM_022772.3:c.165+4137T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.33,\N,\N,EPS8L2
211062,11:714626:T>A,NM_022772.3:c.165+4140T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.504,\N,\N,EPS8L2
211063,11:714669:A>T,NM_022772.3:c.165+4183A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.072,0.002,1KG_EAS_AF,EPS8L2
211064,11:714672:T>G,NM_022772.3:c.165+4186T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.06,0.0014,1KG_AMR_AF,EPS8L2
211065,11:714674:A>T,NM_022772.3:c.165+4188A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.04,0.0014,1KG_AMR_AF,EPS8L2
211066,11:714675:T>TA,NM_022772.3:c.165+4189_165+4190insA,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211067,11:714676:T>A,NM_022772.3:c.165+4190T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.292,\N,\N,EPS8L2
211068,11:714676:T>TA,NM_022772.3:c.165+4190_165+4191insA,\N,\N,4/20,Benign,\N,intron_variant,0.506,0.6043,1KG_SAS_AF,EPS8L2
211069,11:714677:T>A,NM_022772.3:c.165+4191T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.932,\N,\N,EPS8L2
211070,11:714679:T>A,NM_022772.3:c.165+4193T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.07,0.003,1KG_EUR_AF,EPS8L2
211071,11:714701:C>G,NM_022772.3:c.165+4215C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.229,0.001,1KG_EUR_AF,EPS8L2
211072,11:714708:A>C,NM_022772.3:c.165+4222A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.914,\N,\N,EPS8L2
211073,11:714713:G>A,NM_022772.3:c.165+4227G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.279,\N,\N,EPS8L2
211074,11:714720:T>C,NM_022772.3:c.165+4234T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.191,\N,\N,EPS8L2
211075,11:714812:TA>T,NM_022772.3:c.165+4327del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211076,11:714862:G>A,NM_022772.3:c.165+4376G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.064,\N,\N,EPS8L2
211077,11:714923:A>C,NM_022772.3:c.165+4437A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.776,\N,\N,EPS8L2
211078,11:714951:A>G,NM_022772.3:c.165+4465A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,5.961,\N,\N,EPS8L2
211079,11:714964:C>T,NM_022772.3:c.165+4478C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.338,0.0008,1KG_AFR_AF,EPS8L2
211080,11:714965:G>A,NM_022772.3:c.165+4479G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.198,0.001,1KG_EAS_AF|1KG_EUR_AF,EPS8L2
211081,11:714968:C>T,NM_022772.3:c.165+4482C>T,\N,\N,4/20,Benign,\N,intron_variant,1.729,0.0182,1KG_AFR_AF,EPS8L2
211082,11:714969:G>A,NM_022772.3:c.165+4483G>A,\N,\N,4/20,Benign,\N,intron_variant,0.127,0.005,1KG_EAS_AF,EPS8L2
211083,11:714970:C>T,NM_022772.3:c.165+4484C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.145,0.0014,1KG_AMR_AF,EPS8L2
211084,11:714978:C>G,NM_022772.3:c.165+4492C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.982,0.002,1KG_EUR_AF,EPS8L2
211085,11:714979:A>C,NM_022772.3:c.165+4493A>C,\N,\N,4/20,Benign,\N,intron_variant,0.899,0.0129,1KG_EAS_AF,EPS8L2
211086,11:714980:T>C,NM_022772.3:c.165+4494T>C,\N,\N,4/20,Benign,\N,intron_variant,1.246,0.5427,1KG_EAS_AF,EPS8L2
211087,11:714982:C>T,NM_022772.3:c.165+4496C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.413,\N,\N,EPS8L2
211088,11:715008:T>C,NM_022772.3:c.165+4522T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.334,0.002,1KG_EAS_AF,EPS8L2
211089,11:715013:T>A,NM_022772.3:c.165+4527T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.161,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
211090,11:715013:T>C,NM_022772.3:c.165+4527T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.277,\N,\N,EPS8L2
211091,11:715018:A>G,NM_022772.3:c.165+4532A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.446,0.003,1KG_EAS_AF,EPS8L2
211092,11:715022:CACA>GATG,NM_022772.3:c.165+4536_165+4539delinsGATG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211093,11:715025:A>G,NM_022772.3:c.165+4539A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.513,0.002,1KG_EAS_AF,EPS8L2
211094,11:715030:C>G,NM_022772.3:c.165+4544C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.487,\N,\N,EPS8L2
211095,11:715036:A>T,NM_022772.3:c.165+4550A>T,\N,\N,4/20,Benign,\N,intron_variant,1.059,0.118,1KG_AFR_AF,EPS8L2
211096,11:715038:C>G,NM_022772.3:c.165+4552C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.11,0.002,1KG_EAS_AF,EPS8L2
211097,11:715039:A>G,NM_022772.3:c.165+4553A>G,\N,\N,4/20,Benign,\N,intron_variant,0.259,0.4049,1KG_AMR_AF,EPS8L2
211098,11:715045:A>G,NM_022772.3:c.165+4559A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.888,\N,\N,EPS8L2
211099,11:715047:T>C,NM_022772.3:c.165+4561T>C,\N,\N,4/20,Benign,\N,intron_variant,0.126,0.0804,1KG_EAS_AF,EPS8L2
211100,11:715047:T>G,NM_022772.3:c.165+4561T>G,\N,\N,4/20,Benign,\N,intron_variant,0.359,0.0358,1KG_EUR_AF,EPS8L2
211101,11:715048:C>A,NM_022772.3:c.165+4562C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.667,0.001,1KG_SAS_AF,EPS8L2
211102,11:715053:T>C,NM_022772.3:c.165+4567T>C,\N,\N,4/20,Benign,\N,intron_variant,0.152,0.0487,1KG_EUR_AF,EPS8L2
211103,11:715057:A>G,NM_022772.3:c.165+4571A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.967,0.0008,1KG_AFR_AF,EPS8L2
211104,11:715058:T>C,NM_022772.3:c.165+4572T>C,\N,\N,4/20,Benign,\N,intron_variant,0.832,0.1964,1KG_EAS_AF,EPS8L2
211105,11:715059:G>A,NM_022772.3:c.165+4573G>A,\N,\N,4/20,Benign,\N,intron_variant,1.699,0.1806,1KG_EAS_AF,EPS8L2
211106,11:715060:G>A,NM_022772.3:c.165+4574G>A,\N,\N,4/20,Benign,\N,intron_variant,1.062,0.0467,1KG_EUR_AF,EPS8L2
211107,11:715065:A>G,NM_022772.3:c.165+4579A>G,\N,\N,4/20,Benign,\N,intron_variant,1.079,0.0159,1KG_AFR_AF,EPS8L2
211108,11:715069:C>T,NM_022772.3:c.165+4583C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.44,\N,\N,EPS8L2
211109,11:715070:G>A,NM_022772.3:c.165+4584G>A,\N,\N,4/20,Benign,\N,intron_variant,0.192,0.0102,1KG_SAS_AF,EPS8L2
211110,11:715074:C>T,NM_022772.3:c.165+4588C>T,\N,\N,4/20,Benign,\N,intron_variant,0.3,0.0371,1KG_AFR_AF,EPS8L2
211111,11:715086:C>CA,NM_022772.3:c.165+4606dup,\N,\N,4/20,Benign,\N,intron_variant,1.422,0.0098,1KG_AFR_AF,EPS8L2
211112,11:715102:T>C,NM_022772.3:c.165+4616T>C,\N,\N,4/20,Benign,\N,intron_variant,0.155,0.0089,1KG_EAS_AF,EPS8L2
211113,11:715104:G>T,NM_022772.3:c.165+4618G>T,\N,\N,4/20,Benign,\N,intron_variant,0.024,0.0089,1KG_EAS_AF,EPS8L2
211114,11:715106:A>G,NM_022772.3:c.165+4620A>G,\N,\N,4/20,Benign,\N,intron_variant,0.667,0.0089,1KG_EAS_AF,EPS8L2
211115,11:715110:C>T,NM_022772.3:c.165+4624C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.754,\N,\N,EPS8L2
211116,11:715114:T>C,NM_022772.3:c.165+4628T>C,\N,\N,4/20,Benign,\N,intron_variant,0.661,0.0149,1KG_EAS_AF,EPS8L2
211117,11:715121:A>G,NM_022772.3:c.165+4635A>G,\N,\N,4/20,Benign,\N,intron_variant,2.426,0.0089,1KG_EAS_AF,EPS8L2
211118,11:715122:G>A,NM_022772.3:c.165+4636G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.666,\N,\N,EPS8L2
211119,11:715123:T>G,NM_022772.3:c.165+4637T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.835,\N,\N,EPS8L2
211120,11:715134:C>T,NM_022772.3:c.165+4648C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.37,0.0015,1KG_AFR_AF,EPS8L2
211121,11:715158:C>T,NM_022772.3:c.165+4672C>T,\N,\N,4/20,Benign,\N,intron_variant,2.035,0.0083,1KG_AFR_AF,EPS8L2
211122,11:715159:G>A,NM_022772.3:c.165+4673G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.378,\N,\N,EPS8L2
211123,11:715159:G>C,NM_022772.3:c.165+4673G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.234,0.0008,1KG_AFR_AF,EPS8L2
211124,11:715167:C>G,NM_022772.3:c.165+4681C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.043,\N,\N,EPS8L2
211125,11:715167:C>T,NM_022772.3:c.165+4681C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.087,0.002,1KG_SAS_AF,EPS8L2
211126,11:715173:C>T,NM_022772.3:c.165+4687C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.24,\N,\N,EPS8L2
211127,11:715174:G>A,NM_022772.3:c.165+4688G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.221,0.001,1KG_SAS_AF,EPS8L2
211128,11:715177:G>T,NM_022772.3:c.165+4691G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.665,0.003,1KG_EUR_AF,EPS8L2
211129,11:715178:C>A,NM_022772.3:c.165+4692C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.993,0.003,1KG_EUR_AF,EPS8L2
211130,11:715186:A>G,NM_022772.3:c.165+4700A>G,\N,\N,4/20,Benign,\N,intron_variant,0.203,0.031,1KG_AFR_AF,EPS8L2
211131,11:715190:T>C,NM_022772.3:c.165+4704T>C,\N,\N,4/20,Benign,\N,intron_variant,0.125,0.0136,1KG_AFR_AF,EPS8L2
211132,11:715191:G>A,NM_022772.3:c.165+4705G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.255,0.0015,1KG_AFR_AF,EPS8L2
211133,11:715196:T>C,NM_022772.3:c.165+4710T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.146,0.0015,1KG_AFR_AF,EPS8L2
211134,11:715198:C>T,NM_022772.3:c.165+4712C>T,\N,\N,4/20,Benign,\N,intron_variant,0.135,0.8071,1KG_AFR_AF,EPS8L2
211135,11:715202:A>G,NM_022772.3:c.165+4716A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.037,0.003,1KG_EAS_AF,EPS8L2
211136,11:715204:T>G,NM_022772.3:c.165+4718T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.148,0.0008,1KG_AFR_AF,EPS8L2
211137,11:715208:C>G,NM_022772.3:c.165+4722C>G,\N,\N,4/20,Benign,\N,intron_variant,0.048,0.0174,1KG_AFR_AF,EPS8L2
211138,11:715220:A>C,NM_022772.3:c.165+4734A>C,\N,\N,4/20,Benign,\N,intron_variant,0.028,0.0174,1KG_AFR_AF,EPS8L2
211139,11:715220:A>G,NM_022772.3:c.165+4734A>G,\N,\N,4/20,Benign,\N,intron_variant,0.102,0.9138,1KG_AFR_AF,EPS8L2
211140,11:715221:G>A,NM_022772.3:c.165+4735G>A,\N,\N,4/20,Benign,\N,intron_variant,1.108,0.0189,1KG_AFR_AF,EPS8L2
211141,11:715228:T>C,NM_022772.3:c.165+4742T>C,\N,\N,4/20,Benign,\N,intron_variant,1.616,0.0287,1KG_AFR_AF,EPS8L2
211142,11:715229:G>A,NM_022772.3:c.165+4743G>A,\N,\N,4/20,Benign,\N,intron_variant,1.63,0.0189,1KG_AFR_AF,EPS8L2
211143,11:715236:T>C,NM_022772.3:c.165+4750T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.134,0.002,1KG_SAS_AF,EPS8L2
211144,11:715237:G>A,NM_022772.3:c.165+4751G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.215,0.003,1KG_AFR_AF,EPS8L2
211145,11:715241:C>CA,NM_022772.3:c.165+4768dup,\N,\N,4/20,Unknown significance,\N,intron_variant,2.771,\N,\N,EPS8L2
211146,11:715242:A>C,NM_022772.3:c.165+4756A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.759,\N,\N,EPS8L2
211147,11:715280:T>C,NM_022772.3:c.166-4782T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.506,0.0008,1KG_AFR_AF,EPS8L2
211148,11:715320:C>T,NM_022772.3:c.166-4742C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.482,0.002,1KG_SAS_AF,EPS8L2
211149,11:715321:G>A,NM_022772.3:c.166-4741G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.109,0.001,1KG_EAS_AF,EPS8L2
211150,11:715359:T>C,NM_022772.3:c.166-4703T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.043,0.001,1KG_SAS_AF,EPS8L2
211151,11:715370:C>T,NM_022772.3:c.166-4692C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.115,0.001,1KG_EAS_AF,EPS8L2
211152,11:715420:G>A,NM_022772.3:c.166-4642G>A,\N,\N,4/20,Benign,\N,intron_variant,1.545,0.1829,1KG_EUR_AF,EPS8L2
211153,11:715459:G>T,NM_022772.3:c.166-4603G>T,\N,\N,4/20,Benign,\N,intron_variant,0.918,0.0072,1KG_SAS_AF,EPS8L2
211154,11:715545:C>T,NM_022772.3:c.166-4517C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.164,0.001,1KG_SAS_AF,EPS8L2
211155,11:715580:C>T,NM_022772.3:c.166-4482C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.56,0.001,1KG_EAS_AF,EPS8L2
211156,11:715612:T>C,NM_022772.3:c.166-4450T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.491,0.0023,1KG_AFR_AF,EPS8L2
211157,11:715618:G>T,NM_022772.3:c.166-4444G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.398,\N,\N,EPS8L2
211158,11:715619:T>G,NM_022772.3:c.166-4443T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.9,\N,\N,EPS8L2
211159,11:715623:T>G,NM_022772.3:c.166-4439T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.919,0.0008,1KG_AFR_AF,EPS8L2
211160,11:715625:T>TG,NM_022772.3:c.166-4437_166-4436insG,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211161,11:715626:T>G,NM_022772.3:c.166-4436T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.083,\N,\N,EPS8L2
211162,11:715627:T>G,NM_022772.3:c.166-4435T>G,\N,\N,4/20,Benign,\N,intron_variant,4.325,0.0076,1KG_AFR_AF,EPS8L2
211163,11:715632:T>G,NM_022772.3:c.166-4430T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.351,\N,\N,EPS8L2
211164,11:715651:T>C,NM_022772.3:c.166-4411T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.447,\N,\N,EPS8L2
211165,11:715655:C>G,NM_022772.3:c.166-4407C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.22,\N,\N,EPS8L2
211166,11:715667:C>A,NM_022772.3:c.166-4395C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.405,0.0008,1KG_AFR_AF,EPS8L2
211167,11:715682:A>G,NM_022772.3:c.166-4380A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.639,0.001,1KG_EUR_AF|1KG_SAS_AF,EPS8L2
211168,11:715706:C>T,NM_022772.3:c.166-4356C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.143,0.0008,1KG_AFR_AF,EPS8L2
211169,11:715707:G>A,NM_022772.3:c.166-4355G>A,\N,\N,4/20,Benign,\N,intron_variant,0.288,0.025,1KG_AFR_AF,EPS8L2
211170,11:715713:T>C,NM_022772.3:c.166-4349T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.961,0.002,1KG_EUR_AF,EPS8L2
211171,11:715722:G>A,NM_022772.3:c.166-4340G>A,\N,\N,4/20,Benign,\N,intron_variant,3.024,0.0613,1KG_SAS_AF,EPS8L2
211172,11:715735:C>A,NM_022772.3:c.166-4327C>A,\N,\N,4/20,Benign,\N,intron_variant,9.598,0.0061,1KG_AFR_AF,EPS8L2
211173,11:715746:A>G,NM_022772.3:c.166-4316A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,8.678,\N,\N,EPS8L2
211174,11:715754:G>C,NM_022772.3:c.166-4308G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,8.246,0.0008,1KG_AFR_AF,EPS8L2
211175,11:715755:G>A,NM_022772.3:c.166-4307G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,9.816,0.002,1KG_EUR_AF,EPS8L2
211176,11:715777:C>G,NM_022772.3:c.166-4285C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.334,\N,\N,EPS8L2
211177,11:715782:A>G,NM_022772.3:c.166-4280A>G,\N,\N,4/20,Benign,\N,intron_variant,8.477,0.0387,1KG_EAS_AF,EPS8L2
211178,11:715811:G>A,NM_022772.3:c.166-4251G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.765,0.0014,1KG_AMR_AF,EPS8L2
211179,11:715821:C>T,NM_022772.3:c.166-4241C>T,\N,\N,4/20,Benign,\N,intron_variant,1.601,0.0174,1KG_AFR_AF,EPS8L2
211180,11:715822:G>A,NM_022772.3:c.166-4240G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.877,0.0038,1KG_AFR_AF,EPS8L2
211181,11:715824:G>A,NM_022772.3:c.166-4238G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.941,\N,\N,EPS8L2
211182,11:715841:C>T,NM_022772.3:c.166-4221C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.549,0.001,1KG_EAS_AF,EPS8L2
211183,11:715850:G>C,NM_022772.3:c.166-4212G>C,\N,\N,4/20,Benign,\N,intron_variant,0.504,0.0197,1KG_AFR_AF,EPS8L2
211184,11:715862:C>T,NM_022772.3:c.166-4200C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.539,0.0014,1KG_AMR_AF,EPS8L2
211185,11:715863:G>A,NM_022772.3:c.166-4199G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.926,\N,\N,EPS8L2
211186,11:715879:T>C,NM_022772.3:c.166-4183T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.97,\N,\N,EPS8L2
211187,11:715900:A>G,NM_022772.3:c.166-4162A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.16,0.0008,1KG_AFR_AF,EPS8L2
211188,11:715909:C>T,NM_022772.3:c.166-4153C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.934,0.001,1KG_EUR_AF,EPS8L2
211189,11:715912:G>A,NM_022772.3:c.166-4150G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.732,\N,\N,EPS8L2
211190,11:715915:C>T,NM_022772.3:c.166-4147C>T,\N,\N,4/20,Benign,\N,intron_variant,0.73,0.0189,1KG_AFR_AF,EPS8L2
211191,11:715916:G>A,NM_022772.3:c.166-4146G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.708,0.0029,1KG_AMR_AF,EPS8L2
211192,11:715926:C>A,NM_022772.3:c.166-4136C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.336,\N,\N,EPS8L2
211193,11:715940:G>A,NM_022772.3:c.166-4122G>A,\N,\N,4/20,Benign,\N,intron_variant,0.906,0.2061,1KG_AMR_AF,EPS8L2
211194,11:715947:G>A,NM_022772.3:c.166-4115G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.861,0.001,1KG_EAS_AF,EPS8L2
211195,11:715968:CTT>C,NM_022772.3:c.166-4075_166-4074del,\N,\N,4/20,Benign,\N,intron_variant,1.902,0.888,1KG_AFR_AF,EPS8L2
211196,11:715968:CTTT>C,NM_022772.3:c.166-4076_166-4074del,\N,\N,4/20,Unknown significance,\N,intron_variant,1.751,\N,\N,EPS8L2
211197,11:716011:C>T,NM_022772.3:c.166-4051C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.158,0.001,1KG_SAS_AF,EPS8L2
211198,11:716019:C>G,NM_022772.3:c.166-4043C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.717,0.0008,1KG_AFR_AF,EPS8L2
211199,11:716058:C>T,NM_022772.3:c.166-4004C>T,\N,\N,4/20,Benign,\N,intron_variant,0.648,0.9191,1KG_AFR_AF,EPS8L2
211200,11:716059:G>A,NM_022772.3:c.166-4003G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.602,0.002,1KG_EAS_AF,EPS8L2
211201,11:716075:C>T,NM_022772.3:c.166-3987C>T,\N,\N,4/20,Benign,\N,intron_variant,0.685,0.0288,1KG_EAS_AF,EPS8L2
211202,11:716152:G>GT,NM_022772.3:c.166-3896dup,\N,\N,4/20,Unknown significance,\N,intron_variant,0.176,\N,\N,EPS8L2
211203,11:716184:T>C,NM_022772.3:c.166-3878T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.482,0.0008,1KG_AFR_AF,EPS8L2
211204,11:716190:C>A,NM_022772.3:c.166-3872C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.328,0.001,1KG_EUR_AF,EPS8L2
211205,11:716204:A>G,NM_022772.3:c.166-3858A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.087,0.0031,1KG_SAS_AF,EPS8L2
211206,11:716218:A>G,NM_022772.3:c.166-3844A>G,\N,\N,4/20,Benign,\N,intron_variant,0.87,0.8971,1KG_AFR_AF,EPS8L2
211207,11:716223:A>G,NM_022772.3:c.166-3839A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.159,\N,\N,EPS8L2
211208,11:716241:C>G,NM_022772.3:c.166-3821C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.496,0.001,1KG_EUR_AF,EPS8L2
211209,11:716249:T>C,NM_022772.3:c.166-3813T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.639,0.0015,1KG_AFR_AF,EPS8L2
211210,11:716283:GGACTACAGGC>G,NM_022772.3:c.166-3777_166-3768del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211211,11:716285:A>G,NM_022772.3:c.166-3777A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.164,\N,\N,EPS8L2
211212,11:716294:G>A,NM_022772.3:c.166-3768G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.614,\N,\N,EPS8L2
211213,11:716297:C>T,NM_022772.3:c.166-3765C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.671,\N,\N,EPS8L2
211214,11:716298:G>A,NM_022772.3:c.166-3764G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.347,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
211215,11:716304:C>A,NM_022772.3:c.166-3758C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.199,\N,\N,EPS8L2
211216,11:716305:C>T,NM_022772.3:c.166-3757C>T,\N,\N,4/20,Benign,\N,intron_variant,2.6,0.0624,1KG_SAS_AF,EPS8L2
211217,11:716316:T>C,NM_022772.3:c.166-3746T>C,\N,\N,4/20,Benign,\N,intron_variant,2.708,0.0151,1KG_AFR_AF,EPS8L2
211218,11:716325:T>G,NM_022772.3:c.166-3737T>G,\N,\N,4/20,Benign,\N,intron_variant,2.149,0.6037,1KG_AMR_AF,EPS8L2
211219,11:716349:C>T,NM_022772.3:c.166-3713C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.803,0.003,1KG_EAS_AF,EPS8L2
211220,11:716350:G>A,NM_022772.3:c.166-3712G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.842,\N,\N,EPS8L2
211221,11:716373:C>T,NM_022772.3:c.166-3689C>T,\N,\N,4/20,Benign,\N,intron_variant,2.922,0.0072,1KG_SAS_AF,EPS8L2
211222,11:716394:T>G,NM_022772.3:c.166-3668T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.402,\N,\N,EPS8L2
211223,11:716449:GTT>G,NM_022772.3:c.166-3610_166-3609del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211224,11:716503:C>A,NM_022772.3:c.166-3559C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.674,\N,\N,EPS8L2
211225,11:716503:C>T,NM_022772.3:c.166-3559C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.646,\N,\N,EPS8L2
211226,11:716523:C>G,NM_022772.3:c.166-3539C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.729,0.002,1KG_SAS_AF,EPS8L2
211227,11:716523:C>T,NM_022772.3:c.166-3539C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.031,0.0045,1KG_AFR_AF,EPS8L2
211228,11:716526:G>T,NM_022772.3:c.166-3536G>T,\N,\N,4/20,Benign,\N,intron_variant,1.239,0.0677,1KG_AMR_AF,EPS8L2
211229,11:716528:A>T,NM_022772.3:c.166-3534A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.291,0.002,1KG_EAS_AF,EPS8L2
211230,11:716546:C>T,NM_022772.3:c.166-3516C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.466,0.001,1KG_SAS_AF,EPS8L2
211231,11:716579:C>T,NM_022772.3:c.166-3483C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.74,0.0029,1KG_AMR_AF,EPS8L2
211232,11:716589:A>G,NM_022772.3:c.166-3473A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.908,0.003,1KG_EAS_AF,EPS8L2
211233,11:716590:A>C,NM_022772.3:c.166-3472A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.101,0.001,1KG_SAS_AF,EPS8L2
211234,11:716607:T>C,NM_022772.3:c.166-3455T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.358,0.0014,1KG_AMR_AF,EPS8L2
211235,11:716628:T>A,NM_022772.3:c.166-3434T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,7.96,0.0008,1KG_AFR_AF,EPS8L2
211236,11:716684:T>C,NM_022772.3:c.166-3378T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,9.568,\N,\N,EPS8L2
211237,11:716716:T>C,NM_022772.3:c.166-3346T>C,\N,\N,4/20,Benign,\N,intron_variant,3.628,0.0083,1KG_AFR_AF,EPS8L2
211238,11:716753:T>C,NM_022772.3:c.166-3309T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.661,0.0008,1KG_AFR_AF,EPS8L2
211239,11:716765:A>C,NM_022772.3:c.166-3297A>C,\N,\N,4/20,Benign,\N,intron_variant,0.543,0.8979,1KG_AFR_AF,EPS8L2
211240,11:716810:C>T,NM_022772.3:c.166-3252C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.395,\N,\N,EPS8L2
211241,11:716830:T>A,NM_022772.3:c.166-3232T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,6.327,0.001,1KG_SAS_AF,EPS8L2
211242,11:716832:A>T,NM_022772.3:c.166-3230A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.921,\N,\N,EPS8L2
211243,11:716858:G>A,NM_022772.3:c.166-3204G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.41,\N,\N,EPS8L2
211244,11:716867:C>G,NM_022772.3:c.166-3195C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.995,0.003,1KG_EAS_AF,EPS8L2
211245,11:716911:T>A,NM_022772.3:c.166-3151T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.99,0.001,1KG_SAS_AF,EPS8L2
211246,11:716919:C>G,NM_022772.3:c.166-3143C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.695,0.001,1KG_EAS_AF,EPS8L2
211247,11:716923:C>T,NM_022772.3:c.166-3139C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.737,\N,\N,EPS8L2
211248,11:716937:T>C,NM_022772.3:c.166-3125T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.875,0.0008,1KG_AFR_AF,EPS8L2
211249,11:716950:C>T,NM_022772.3:c.166-3112C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.441,0.0029,1KG_AMR_AF,EPS8L2
211250,11:716967:C>A,NM_022772.3:c.166-3095C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.529,0.0014,1KG_AMR_AF,EPS8L2
211251,11:716988:T>C,NM_022772.3:c.166-3074T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.277,\N,\N,EPS8L2
211252,11:717007:C>T,NM_022772.3:c.166-3055C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.226,\N,\N,EPS8L2
211253,11:717008:G>A,NM_022772.3:c.166-3054G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.801,\N,\N,EPS8L2
211254,11:717039:C>T,NM_022772.3:c.166-3023C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.18,0.001,1KG_SAS_AF,EPS8L2
211255,11:717040:G>A,NM_022772.3:c.166-3022G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.226,0.0043,1KG_AMR_AF,EPS8L2
211256,11:717109:C>T,NM_022772.3:c.166-2953C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.21,0.001,1KG_EUR_AF,EPS8L2
211257,11:717110:G>A,NM_022772.3:c.166-2952G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.193,0.003,1KG_AFR_AF,EPS8L2
211258,11:717112:G>T,NM_022772.3:c.166-2950G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.599,0.0008,1KG_AFR_AF,EPS8L2
211259,11:717113:G>T,NM_022772.3:c.166-2949G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.372,0.0008,1KG_AFR_AF,EPS8L2
211260,11:717121:C>T,NM_022772.3:c.166-2941C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.227,\N,\N,EPS8L2
211261,11:717130:C>T,NM_022772.3:c.166-2932C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.133,0.004,1KG_EUR_AF,EPS8L2
211262,11:717134:G>A,NM_022772.3:c.166-2928G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.006,0.001,1KG_SAS_AF,EPS8L2
211263,11:717137:G>A,NM_022772.3:c.166-2925G>A,\N,\N,4/20,Benign,\N,intron_variant,0.285,0.0741,1KG_AFR_AF,EPS8L2
211264,11:717144:T>C,NM_022772.3:c.166-2918T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,3.834,\N,\N,EPS8L2
211265,11:717154:T>G,NM_022772.3:c.166-2908T>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.741,0.001,1KG_EUR_AF,EPS8L2
211266,11:717176:C>T,NM_022772.3:c.166-2886C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.504,0.0008,1KG_AFR_AF,EPS8L2
211267,11:717177:G>A,NM_022772.3:c.166-2885G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.208,\N,\N,EPS8L2
211268,11:717191:G>A,NM_022772.3:c.166-2871G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,8.656,\N,\N,EPS8L2
211269,11:717210:T>C,NM_022772.3:c.166-2852T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,8.402,\N,\N,EPS8L2
211270,11:717234:C>CA,NM_022772.3:c.166-2825dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211271,11:717265:G>A,NM_022772.3:c.166-2797G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.702,0.001,1KG_EUR_AF,EPS8L2
211272,11:717271:G>C,NM_022772.3:c.166-2791G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.163,0.001,1KG_EAS_AF,EPS8L2
211273,11:717303:C>A,NM_022772.3:c.166-2759C>A,\N,\N,4/20,Benign,\N,intron_variant,3.836,0.0072,1KG_SAS_AF,EPS8L2
211274,11:717335:G>A,NM_022772.3:c.166-2727G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.257,0.001,1KG_EAS_AF,EPS8L2
211275,11:717372:T>C,NM_022772.3:c.166-2690T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.095,\N,\N,EPS8L2
211276,11:717388:C>T,NM_022772.3:c.166-2674C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.835,0.0015,1KG_AFR_AF,EPS8L2
211277,11:717389:G>A,NM_022772.3:c.166-2673G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.15,\N,\N,EPS8L2
211278,11:717427:G>T,NM_022772.3:c.166-2635G>T,\N,\N,4/20,Benign,\N,intron_variant,0.199,0.0099,1KG_EUR_AF,EPS8L2
211279,11:717469:G>A,NM_022772.3:c.166-2593G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.051,0.0008,1KG_AFR_AF,EPS8L2
211280,11:717534:T>C,NM_022772.3:c.166-2528T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.232,\N,\N,EPS8L2
211281,11:717559:G>C,NM_022772.3:c.166-2503G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.486,0.0008,1KG_AFR_AF,EPS8L2
211282,11:717576:A>C,NM_022772.3:c.166-2486A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.638,\N,\N,EPS8L2
211283,11:717579:T>TA,NM_022772.3:c.166-2476dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211284,11:717586:A>G,NM_022772.3:c.166-2476A>G,\N,\N,4/20,Benign,\N,intron_variant,3.476,0.0069,1KG_EAS_AF,EPS8L2
211285,11:717599:C>G,NM_022772.3:c.166-2463C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.614,0.001,1KG_EAS_AF,EPS8L2
211286,11:717604:C>T,NM_022772.3:c.166-2458C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.491,0.0008,1KG_AFR_AF,EPS8L2
211287,11:717609:T>C,NM_022772.3:c.166-2453T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,6.256,\N,\N,EPS8L2
211288,11:717677:A>C,NM_022772.3:c.166-2385A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,4.275,0.0008,1KG_AFR_AF,EPS8L2
211289,11:717708:G>C,NM_022772.3:c.166-2354G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.207,\N,\N,EPS8L2
211290,11:717713:T>C,NM_022772.3:c.166-2349T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,5.099,\N,\N,EPS8L2
211291,11:717776:G>A,NM_022772.3:c.166-2286G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.385,0.001,1KG_EAS_AF,EPS8L2
211292,11:717780:C>T,NM_022772.3:c.166-2282C>T,\N,\N,4/20,Benign,\N,intron_variant,0.108,0.0076,1KG_AFR_AF,EPS8L2
211293,11:717781:G>A,NM_022772.3:c.166-2281G>A,\N,\N,4/20,Benign,\N,intron_variant,0.841,0.0197,1KG_AFR_AF,EPS8L2
211294,11:717783:G>A,NM_022772.3:c.166-2279G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.928,0.0008,1KG_AFR_AF,EPS8L2
211295,11:717792:A>G,NM_022772.3:c.166-2270A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.066,0.001,1KG_SAS_AF,EPS8L2
211296,11:717805:G>C,NM_022772.3:c.166-2257G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.011,0.0014,1KG_AMR_AF,EPS8L2
211297,11:717878:A>G,NM_022772.3:c.166-2184A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.293,\N,\N,EPS8L2
211298,11:717881:C>T,NM_022772.3:c.166-2181C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.579,\N,\N,EPS8L2
211299,11:717926:G>A,NM_022772.3:c.166-2136G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.112,0.0043,1KG_AMR_AF,EPS8L2
211300,11:717933:T>C,NM_022772.3:c.166-2129T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.14,\N,\N,EPS8L2
211301,11:717944:GA>G,NM_022772.3:c.166-2117del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211302,11:717955:G>A,NM_022772.3:c.166-2107G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.282,0.0014,1KG_AMR_AF,EPS8L2
211303,11:717957:C>T,NM_022772.3:c.166-2105C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.219,0.0008,1KG_AFR_AF,EPS8L2
211304,11:717958:G>A,NM_022772.3:c.166-2104G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.37,0.001,1KG_EAS_AF,EPS8L2
211305,11:718003:C>T,NM_022772.3:c.166-2059C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.489,\N,\N,EPS8L2
211306,11:718015:A>G,NM_022772.3:c.166-2047A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.579,\N,\N,EPS8L2
211307,11:718042:CCAAACAGAGG>C,NM_022772.3:c.166-2018_166-2009del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211308,11:718070:C>T,NM_022772.3:c.166-1992C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,9.205,\N,\N,EPS8L2
211309,11:718071:G>A,NM_022772.3:c.166-1991G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,9.637,\N,\N,EPS8L2
211310,11:718103:C>A,NM_022772.3:c.166-1959C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.775,\N,\N,EPS8L2
211311,11:718103:C>T,NM_022772.3:c.166-1959C>T,\N,\N,4/20,Benign,\N,intron_variant,0.756,0.0764,1KG_AFR_AF,EPS8L2
211312,11:718104:G>A,NM_022772.3:c.166-1958G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.494,\N,\N,EPS8L2
211313,11:718189:C>T,NM_022772.3:c.166-1873C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.188,\N,\N,EPS8L2
211314,11:718190:G>A,NM_022772.3:c.166-1872G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.969,0.001,1KG_SAS_AF,EPS8L2
211315,11:718199:G>T,NM_022772.3:c.166-1863G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.813,\N,\N,EPS8L2
211316,11:718219:C>T,NM_022772.3:c.166-1843C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.051,\N,\N,EPS8L2
211317,11:718225:C>T,NM_022772.3:c.166-1837C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.049,0.0008,1KG_AFR_AF,EPS8L2
211318,11:718257:C>T,NM_022772.3:c.166-1805C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.742,0.0008,1KG_AFR_AF,EPS8L2
211319,11:718259:G>A,NM_022772.3:c.166-1803G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.7,0.001,1KG_EAS_AF,EPS8L2
211320,11:718284:G>A,NM_022772.3:c.166-1778G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.827,0.0014,1KG_AMR_AF,EPS8L2
211321,11:718318:G>A,NM_022772.3:c.166-1744G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.777,0.001,1KG_EUR_AF,EPS8L2
211322,11:718346:ACT>A,NM_022772.3:c.166-1715_166-1714del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211323,11:718348:TAACA>T,NM_022772.3:c.166-1703_166-1700del,\N,\N,4/20,Benign,\N,intron_variant,6.714,0.0164,1KG_SAS_AF,EPS8L2
211324,11:718372:C>T,NM_022772.3:c.166-1690C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.659,0.0014,1KG_AMR_AF,EPS8L2
211325,11:718378:G>A,NM_022772.3:c.166-1684G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.056,0.001,1KG_EAS_AF,EPS8L2
211326,11:718389:A>G,NM_022772.3:c.166-1673A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.492,0.0014,1KG_AMR_AF,EPS8L2
211327,11:718434:A>G,NM_022772.3:c.166-1628A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,0.462,0.001,1KG_EUR_AF,EPS8L2
211328,11:718436:G>A,NM_022772.3:c.166-1626G>A,\N,\N,4/20,Benign,\N,intron_variant,0.803,0.0804,1KG_EAS_AF,EPS8L2
211329,11:718449:A>G,NM_022772.3:c.166-1613A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.095,\N,\N,EPS8L2
211330,11:718449:AT>A,NM_022772.3:c.166-1607del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211331,11:718452:TTTTC>T,NM_022772.3:c.166-1606_166-1603del,\N,\N,4/20,Benign,\N,intron_variant,4.01,0.0893,1KG_AFR_AF,EPS8L2
211332,11:718481:AT>A,NM_022772.3:c.166-1564del,\N,\N,4/20,Unknown significance,\N,intron_variant,3.662,\N,\N,EPS8L2
211333,11:718534:C>T,NM_022772.3:c.166-1528C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.343,\N,\N,EPS8L2
211334,11:718539:C>T,NM_022772.3:c.166-1523C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.262,\N,\N,EPS8L2
211335,11:718572:C>T,NM_022772.3:c.166-1490C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.05,\N,\N,EPS8L2
211336,11:718604:C>T,NM_022772.3:c.166-1458C>T,\N,\N,4/20,Benign,\N,intron_variant,2.581,0.0144,1KG_AFR_AF,EPS8L2
211337,11:718619:G>A,NM_022772.3:c.166-1443G>A,\N,\N,4/20,Benign,\N,intron_variant,0.582,0.1286,1KG_AFR_AF,EPS8L2
211338,11:718663:T>C,NM_022772.3:c.166-1399T>C,\N,\N,4/20,Benign,\N,intron_variant,1.06,0.0219,1KG_AFR_AF,EPS8L2
211339,11:718666:T>TAA,NM_022772.3:c.166-1395_166-1394dup,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211340,11:718682:T>C,NM_022772.3:c.166-1380T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.248,\N,\N,EPS8L2
211341,11:718689:G>A,NM_022772.3:c.166-1373G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.486,\N,\N,EPS8L2
211342,11:718708:G>A,NM_022772.3:c.166-1354G>A,\N,\N,4/20,Benign,\N,intron_variant,0.016,0.0779,1KG_AFR_AF,EPS8L2
211343,11:718724:A>T,NM_022772.3:c.166-1338A>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.04,0.001,1KG_EAS_AF,EPS8L2
211344,11:718761:T>C,NM_022772.3:c.166-1301T>C,\N,\N,4/20,Benign,\N,intron_variant,0.112,0.9145,1KG_AFR_AF,EPS8L2
211345,11:718793:C>T,NM_022772.3:c.166-1269C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.122,0.001,1KG_SAS_AF,EPS8L2
211346,11:718808:AT>A,NM_022772.3:c.166-1253del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211347,11:718817:T>C,NM_022772.3:c.166-1245T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.041,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
211348,11:718860:G>A,NM_022772.3:c.166-1202G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.904,\N,\N,EPS8L2
211349,11:718897:T>C,NM_022772.3:c.166-1165T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.163,0.0015,1KG_AFR_AF,EPS8L2
211350,11:718936:A>G,NM_022772.3:c.166-1126A>G,\N,\N,4/20,Benign,\N,intron_variant,0.314,0.0795,1KG_EUR_AF,EPS8L2
211351,11:718956:C>T,NM_022772.3:c.166-1106C>T,\N,\N,4/20,Benign,\N,intron_variant,1.133,0.1521,1KG_EUR_AF,EPS8L2
211352,11:718967:C>CT,NM_022772.3:c.166-1079dup,\N,\N,4/20,Unknown significance,\N,intron_variant,4.84,\N,\N,EPS8L2
211353,11:719010:G>A,NM_022772.3:c.166-1052G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.573,\N,\N,EPS8L2
211354,11:719012:C>T,NM_022772.3:c.166-1050C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.466,\N,\N,EPS8L2
211355,11:719050:C>T,NM_022772.3:c.166-1012C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.361,\N,\N,EPS8L2
211356,11:719060:G>C,NM_022772.3:c.166-1002G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.278,\N,\N,EPS8L2
211357,11:719108:G>A,NM_022772.3:c.166-954G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.308,\N,\N,EPS8L2
211358,11:719122:T>C,NM_022772.3:c.166-940T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,3.014,0.0014,1KG_AMR_AF,EPS8L2
211359,11:719214:G>A,NM_022772.3:c.166-848G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.477,\N,\N,EPS8L2
211360,11:719227:G>A,NM_022772.3:c.166-835G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.3,0.001,1KG_EUR_AF,EPS8L2
211361,11:719256:C>T,NM_022772.3:c.166-806C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.516,\N,\N,EPS8L2
211362,11:719257:G>A,NM_022772.3:c.166-805G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,1.563,0.001,1KG_EUR_AF,EPS8L2
211363,11:719262:C>T,NM_022772.3:c.166-800C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.066,\N,\N,EPS8L2
211364,11:719287:C>T,NM_022772.3:c.166-775C>T,\N,\N,4/20,Benign,\N,intron_variant,0.532,0.0174,1KG_AFR_AF,EPS8L2
211365,11:719344:C>A,NM_022772.3:c.166-718C>A,\N,\N,4/20,Benign,\N,intron_variant,3.569,0.0189,1KG_AFR_AF,EPS8L2
211366,11:719362:C>T,NM_022772.3:c.166-700C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.281,0.001,1KG_EUR_AF,EPS8L2
211367,11:719363:G>A,NM_022772.3:c.166-699G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.481,0.001,1KG_EUR_AF,EPS8L2
211368,11:719366:CA>C,NM_022772.3:c.166-694del,\N,\N,4/20,Unknown significance,\N,intron_variant,3.776,\N,\N,EPS8L2
211369,11:719368:AC>A,NM_022772.3:c.166-691del,\N,\N,4/20,Benign,\N,intron_variant,0.532,0.2227,1KG_EUR_AF,EPS8L2
211370,11:719369:C>A,NM_022772.3:c.166-693C>A,\N,\N,4/20,Unknown significance,\N,intron_variant,3.759,\N,\N,EPS8L2
211371,11:719371:C>T,NM_022772.3:c.166-691C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.331,\N,\N,EPS8L2
211372,11:719373:T>C,NM_022772.3:c.166-689T>C,\N,\N,4/20,Unknown significance,\N,intron_variant,2.109,0.001,1KG_EUR_AF,EPS8L2
211373,11:719375:G>C,NM_022772.3:c.166-687G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,0.02,\N,\N,EPS8L2
211374,11:719392:AG>A,NM_022772.3:c.166-669del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,EPS8L2
211375,11:719400:C>T,NM_022772.3:c.166-662C>T,\N,\N,4/20,Benign,\N,intron_variant,2.855,0.2176,1KG_AMR_AF,EPS8L2
211376,11:719401:G>A,NM_022772.3:c.166-661G>A,\N,\N,4/20,Benign,\N,intron_variant,4.098,0.0149,1KG_EUR_AF,EPS8L2
211377,11:719455:A>G,NM_022772.3:c.166-607A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.105,\N,\N,EPS8L2
211378,11:719483:G>A,NM_022772.3:c.166-579G>A,\N,\N,4/20,Benign,\N,intron_variant,4.257,0.0091,1KG_AFR_AF,EPS8L2
211379,11:719502:C>T,NM_022772.3:c.166-560C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.484,\N,\N,EPS8L2
211380,11:719509:C>T,NM_022772.3:c.166-553C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.659,\N,\N,EPS8L2
211381,11:719523:G>A,NM_022772.3:c.166-539G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.441,0.0023,1KG_AFR_AF,EPS8L2
211382,11:719573:G>A,NM_022772.3:c.166-489G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.076,\N,\N,EPS8L2
211383,11:719573:G>T,NM_022772.3:c.166-489G>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.082,\N,\N,EPS8L2
211384,11:719579:G>A,NM_022772.3:c.166-483G>A,\N,\N,4/20,Benign,\N,intron_variant,2.908,0.007,1KG_EUR_AF,EPS8L2
211385,11:719585:C>T,NM_022772.3:c.166-477C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.769,0.001,1KG_EAS_AF,EPS8L2
211386,11:719606:C>T,NM_022772.3:c.166-456C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.216,0.002,1KG_EUR_AF,EPS8L2
211387,11:719619:C>T,NM_022772.3:c.166-443C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,0.481,0.0045,1KG_AFR_AF,EPS8L2
211388,11:719620:G>A,NM_022772.3:c.166-442G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.098,\N,\N,EPS8L2
211389,11:719634:G>A,NM_022772.3:c.166-428G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.602,0.0008,1KG_AFR_AF,EPS8L2
211390,11:719640:C>T,NM_022772.3:c.166-422C>T,\N,\N,4/20,Benign,\N,intron_variant,0.968,0.0189,1KG_AFR_AF,EPS8L2
211391,11:719645:C>T,NM_022772.3:c.166-417C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.81,0.001,1KG_EUR_AF,EPS8L2
211392,11:719646:G>A,NM_022772.3:c.166-416G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.48,\N,\N,EPS8L2
211393,11:719679:G>C,NM_022772.3:c.166-383G>C,\N,\N,4/20,Unknown significance,\N,intron_variant,1.995,0.0029,1KG_AMR_AF,EPS8L2
211394,11:719690:C>T,NM_022772.3:c.166-372C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.789,0.001,1KG_SAS_AF,EPS8L2
211395,11:719691:G>A,NM_022772.3:c.166-371G>A,\N,\N,4/20,Benign,\N,intron_variant,1.762,0.0166,1KG_AFR_AF,EPS8L2
211396,11:719725:C>T,NM_022772.3:c.166-337C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.257,0.002,1KG_EUR_AF,EPS8L2
211397,11:719726:G>A,NM_022772.3:c.166-336G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,0.217,0.0008,1KG_AFR_AF,EPS8L2
211398,11:719757:C>T,NM_022772.3:c.166-305C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.126,0.0014,1KG_AMR_AF,EPS8L2
211399,11:719769:AGTGGGCGGGTACTGAGCCTGCACCAGGAG>A,NM_022772.3:c.166-282_166-254del,\N,\N,4/20,Unknown significance,\N,intron_variant,\N,0.004,1KG_EAS_AF,EPS8L2
211400,11:719776:G>A,NM_022772.3:c.166-286G>A,\N,\N,4/20,Benign,\N,intron_variant,2.161,0.0079,1KG_EAS_AF,EPS8L2
211401,11:719804:C>T,NM_022772.3:c.166-258C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.819,0.0029,1KG_AMR_AF,EPS8L2
211402,11:719820:C>T,NM_022772.3:c.166-242C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.901,0.0014,1KG_AMR_AF,EPS8L2
211403,11:719822:C>T,NM_022772.3:c.166-240C>T,\N,\N,4/20,Benign,\N,intron_variant,3.024,0.0278,1KG_EUR_AF,EPS8L2
211404,11:719828:C>T,NM_022772.3:c.166-234C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,1.681,0.0015,1KG_AFR_AF,EPS8L2
211405,11:719846:C>T,NM_022772.3:c.166-216C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.516,0.0023,1KG_AFR_AF,EPS8L2
211406,11:719855:A>G,NM_022772.3:c.166-207A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,3.378,\N,\N,EPS8L2
211407,11:719857:A>G,NM_022772.3:c.166-205A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,1.229,0.001,1KG_SAS_AF,EPS8L2
211408,11:719913:C>T,NM_022772.3:c.166-149C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,8.97,0.0043,1KG_AMR_AF,EPS8L2
211409,11:719927:C>T,NM_022772.3:c.166-135C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,3.95,\N,\N,EPS8L2
211410,11:719928:G>A,NM_022772.3:c.166-134G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,5.032,0.001,1KG_EUR_AF,EPS8L2
211411,11:719930:G>A,NM_022772.3:c.166-132G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,4.163,0.001,1KG_EAS_AF,EPS8L2
211412,11:719934:G>A,NM_022772.3:c.166-128G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,2.023,\N,\N,EPS8L2
211413,11:719940:C>T,NM_022772.3:c.166-122C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,4.614,\N,\N,EPS8L2
211414,11:719972:C>T,NM_022772.3:c.166-90C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,7.442,\N,\N,EPS8L2
211415,11:719981:C>G,NM_022772.3:c.166-81C>G,\N,\N,4/20,Benign,\N,intron_variant,4.806,0.0908,1KG_AFR_AF,EPS8L2
211416,11:719983:C>T,NM_022772.3:c.166-79C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,5.282,0.0015,1KG_AFR_AF,EPS8L2
211417,11:719995:C>T,NM_022772.3:c.166-67C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,6.035,0.002,1KG_SAS_AF,EPS8L2
211418,11:720014:C>T,NM_022772.3:c.166-48C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,2.124,0.000528262,EXAC_AMR_AF,EPS8L2
211419,11:720017:C>G,NM_022772.3:c.166-45C>G,\N,\N,4/20,Unknown significance,\N,intron_variant,4.059,0.000123122,EXAC_SAS_AF,EPS8L2
211420,11:720021:A>G,NM_022772.3:c.166-41A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.359,\N,\N,EPS8L2
211421,11:720027:G>A,NM_022772.3:c.166-35G>A,\N,\N,4/20,Unknown significance,\N,intron_variant,6.408,0.000426257,EXAC_FIN_AF,EPS8L2
211422,11:720029:T>A,NM_022772.3:c.166-33T>A,\N,\N,4/20,Unknown significance,\N,intron_variant,7.314,0.00218341,EXAC_OTH_AF,EPS8L2
211423,11:720039:A>C,NM_022772.3:c.166-23A>C,\N,\N,4/20,Unknown significance,\N,intron_variant,3.253,0.000103734,EXAC_SAS_AF,EPS8L2
211424,11:720043:A>G,NM_022772.3:c.166-19A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,6.35,0.0000511247,EXAC_NFE_AF,EPS8L2
211425,11:720046:A>G,NM_022772.3:c.166-16A>G,\N,\N,4/20,Unknown significance,\N,intron_variant,2.928,0.0000493072,EXAC_NFE_AF,EPS8L2
211426,11:720053:C>T,NM_022772.3:c.166-9C>T,\N,\N,4/20,Unknown significance,\N,intron_variant,10.62,0.000232721,EVS_EA_AF,EPS8L2
211427,11:720054:A>G,NM_022772.3:c.166-8A>G,\N,\N,4/20,Unknown significance,\N,splice_region_variant&intron_variant,9.601,0.0000849329,EXAC_SAS_AF,EPS8L2
211428,11:720058:C>G,NM_022772.3:c.166-4C>G,\N,\N,4/20,Unknown significance,\N,splice_region_variant&intron_variant,12.8,0.000041731,EXAC_NFE_AF,EPS8L2
211429,11:720058:C>T,NM_022772.3:c.166-4C>T,\N,\N,4/20,Unknown significance,\N,splice_region_variant&intron_variant,14.25,0.000041731,EXAC_NFE_AF,EPS8L2
211430,11:720059:C>T,NM_022772.3:c.166-3C>T,\N,\N,4/20,Unknown significance,\N,splice_region_variant&intron_variant,15.91,0.0014,1KG_AMR_AF,EPS8L2
211431,11:720076:C>A,NM_022772.3:c.180C>A,NP_073609.2:p.Phe60Leu,5/21,\N,Unknown significance,\N,missense_variant,26.7,0.0000175469,EXAC_NFE_AF,EPS8L2
211432,11:720080:A>T,NM_022772.3:c.184A>T,NP_073609.2:p.Met62Leu,5/21,\N,Unknown significance,\N,missense_variant,20.8,0.000222992,EXAC_NFE_AF,EPS8L2
211433,11:720081:T>G,NM_022772.3:c.185T>G,NP_073609.2:p.Met62Arg,5/21,\N,Unknown significance,\N,missense_variant,27,0.0000170899,EXAC_NFE_AF,EPS8L2
211434,11:720091:C>T,NM_022772.3:c.195C>T,NP_073609.2:p.Ser65=,5/21,\N,Unknown significance,\N,synonymous_variant,14.18,0.00129216,EXAC_SAS_AF,EPS8L2
211435,11:720097:C>T,NM_022772.3:c.201C>T,NP_073609.2:p.Ala67=,5/21,\N,Unknown significance,\N,synonymous_variant,11.36,0.000226963,EVS_AA_AF,EPS8L2
211436,11:720100:C>G,NM_022772.3:c.204C>G,NP_073609.2:p.Ile68Met,5/21,\N,Likely benign,\N,missense_variant,2.424,0.00011919,EXAC_EAS_AF,EPS8L2
211437,11:720101:A>G,NM_022772.3:c.205A>G,NP_073609.2:p.Thr69Ala,5/21,\N,Likely benign,\N,missense_variant,0.002,0.0000158484,EXAC_NFE_AF,EPS8L2
211438,11:720103:G>A,NM_022772.3:c.207G>A,NP_073609.2:p.Thr69=,5/21,\N,Unknown significance,\N,synonymous_variant,11.1,0.000307377,EXAC_AFR_AF,EPS8L2
211439,11:720112:C>G,NM_022772.3:c.216C>G,NP_073609.2:p.Asp72Glu,5/21,\N,Likely benign,\N,missense_variant,0.002,0.0000155812,EXAC_NFE_AF,EPS8L2
211440,11:720112:C>T,NM_022772.3:c.216C>T,NP_073609.2:p.Asp72=,5/21,\N,Unknown significance,\N,synonymous_variant,10.89,0.0000155812,EXAC_NFE_AF,EPS8L2
211441,11:720113:G>A,NM_022772.3:c.217G>A,NP_073609.2:p.Asp73Asn,5/21,\N,Unknown significance,\N,missense_variant,26.6,0.000117178,EXAC_EAS_AF,EPS8L2
211442,11:720115:C>T,NM_022772.3:c.219C>T,NP_073609.2:p.Asp73=,5/21,\N,Unknown significance,\N,synonymous_variant,11.36,0.0000155173,EXAC_NFE_AF,EPS8L2
211443,11:720122:C>T,NM_022772.3:c.226C>T,NP_073609.2:p.Arg76Trp,5/21,\N,Unknown significance,\N,missense_variant,34,0.000175223,EXAC_AMR_AF,EPS8L2
211444,11:720123:G>A,NM_022772.3:c.227G>A,NP_073609.2:p.Arg76Gln,5/21,\N,Unknown significance,\N,missense_variant,32,0.000116279,EVS_EA_AF,EPS8L2
211445,11:720124:G>C,NM_022772.3:c.228G>C,NP_073609.2:p.Arg76=,5/21,\N,Unknown significance,\N,synonymous_variant,9.93,0.0000153931,EXAC_NFE_AF,EPS8L2
211446,11:720127:G>A,NM_022772.3:c.231G>A,NP_073609.2:p.Lys77=,5/21,\N,Unknown significance,\N,synonymous_variant,13.91,0.000116279,EVS_EA_AF,EPS8L2
211447,11:720138:T>C,NM_022772.3:c.242T>C,NP_073609.2:p.Leu81Pro,5/21,\N,Unknown significance,\N,missense_variant,24,0.0000153168,EXAC_NFE_AF,EPS8L2
211448,11:720142:C>G,NM_022772.3:c.246C>G,NP_073609.2:p.Ser82Arg,5/21,\N,Unknown significance,\N,missense_variant,28.2,0.0000870625,EXAC_AMR_AF,EPS8L2
211449,11:720157:C>G,NM_022772.3:c.261C>G,NP_073609.2:p.Ile87Met,5/21,\N,Unknown significance,\N,missense_variant,24.9,0.001,1KG_SAS_AF,EPS8L2
211450,11:720161:A>C,NM_022772.3:c.265A>C,NP_073609.2:p.Thr89Pro,5/21,\N,Unknown significance,\N,missense_variant,25.3,0.001,1KG_EUR_AF,EPS8L2
211451,11:720162:C>T,NM_022772.3:c.266C>T,NP_073609.2:p.Thr89Ile,5/21,\N,Unknown significance,\N,missense_variant,24.6,0.0000978665,EXAC_AFR_AF,EPS8L2
211452,11:720163:C>T,NM_022772.3:c.267C>T,NP_073609.2:p.Thr89=,5/21,\N,Unknown significance,\N,synonymous_variant,15.93,0.0000152779,EXAC_NFE_AF,EPS8L2
211453,11:720170:ATGC>A,NM_022772.3:c.281_283del,NP_073609.2:p.Leu94del,5/21,\N,Unknown significance,\N,inframe_deletion,21.7,\N,\N,EPS8L2
211454,11:720177:T>C,NM_022772.3:c.281T>C,NP_073609.2:p.Leu94Pro,5/21,\N,Unknown significance,\N,missense_variant,26.8,0.000116279,EVS_EA_AF,EPS8L2
211455,11:720187:C>G,NM_022772.3:c.291C>G,NP_073609.2:p.Asn97Lys,5/21,\N,Unknown significance,\N,missense_variant,19.61,0.000091631,EXAC_NFE_AF,EPS8L2
211456,11:720187:C>T,NM_022772.3:c.291C>T,NP_073609.2:p.Asn97=,5/21,\N,Unknown significance,\N,synonymous_variant,15.13,0.000348837,EVS_EA_AF,EPS8L2
211457,11:720188:G>A,NM_022772.3:c.292G>A,NP_073609.2:p.Asp98Asn,5/21,\N,Unknown significance,\N,missense_variant,22.9,0.0000916142,EXAC_NFE_AF,EPS8L2
211458,11:720193:G>C,NM_022772.3:c.297G>C,NP_073609.2:p.Gln99His,5/21,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,EPS8L2
211459,11:720195:C>T,NM_022772.3:c.299C>T,NP_073609.2:p.Ser100Leu,5/21,\N,Unknown significance,\N,missense_variant,19.85,0.0000869263,EXAC_AMR_AF,EPS8L2
211460,11:720197:C>T,NM_022772.3:c.301C>T,NP_073609.2:p.Leu101=,5/21,\N,Benign,\N,synonymous_variant,12.1,0.654503,EXAC_AMR_AF,EPS8L2
211461,11:720200:C>G,NM_022772.3:c.304C>G,NP_073609.2:p.Arg102Gly,5/21,\N,Unknown significance,\N,missense_variant,24.2,0.0000154135,EXAC_NFE_AF,EPS8L2
211462,11:720200:C>T,NM_022772.3:c.304C>T,NP_073609.2:p.Arg102Trp,5/21,\N,Unknown significance,\N,missense_variant,32,0.000232558,EVS_EA_AF,EPS8L2
211463,11:720201:G>A,NM_022772.3:c.305G>A,NP_073609.2:p.Arg102Gln,5/21,\N,Unknown significance,\N,missense_variant,25.6,0.000155763,EXAC_FIN_AF,EPS8L2
211464,11:720207:T>G,NM_022772.3:c.311T>G,NP_073609.2:p.Leu104Arg,5/21,\N,Unknown significance,\N,missense_variant,28.2,0.000121655,EXAC_SAS_AF,EPS8L2
211465,11:720211:C>T,NM_022772.3:c.315C>T,NP_073609.2:p.Asp105=,5/21,\N,Unknown significance,\N,synonymous_variant,11.52,\N,\N,EPS8L2
211466,11:720214:C>G,NM_022772.3:c.318C>G,NP_073609.2:p.Ile106Met,5/21,\N,Likely benign,\N,missense_variant,1.206,0.0000155024,EXAC_NFE_AF,EPS8L2
211467,11:720214:C>T,NM_022772.3:c.318C>T,NP_073609.2:p.Ile106=,5/21,\N,Unknown significance,\N,synonymous_variant,15.7,0.000116932,EXAC_EAS_AF,EPS8L2
211468,11:720215:G>A,NM_022772.3:c.319G>A,NP_073609.2:p.Glu107Lys,5/21,\N,Unknown significance,\N,missense_variant,24.5,0.00020016,EXAC_AFR_AF,EPS8L2
211469,11:720233:A>T,NM_022772.3:c.327+10A>T,\N,\N,5/20,Unknown significance,\N,intron_variant,5.242,0.0000156892,EXAC_NFE_AF,EPS8L2
211470,11:720235:C>T,NM_022772.3:c.327+12C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,0.781,0.0000157144,EXAC_NFE_AF,EPS8L2
211471,11:720254:C>G,NM_022772.3:c.327+31C>G,\N,\N,5/20,Unknown significance,\N,intron_variant,3.007,\N,\N,EPS8L2
211472,11:720256:C>T,NM_022772.3:c.327+33C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,3.064,0.0000159485,EXAC_NFE_AF,EPS8L2
211473,11:720260:G>A,NM_022772.3:c.327+37G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,3.946,0.000166113,EXAC_FIN_AF,EPS8L2
211474,11:720260:G>C,NM_022772.3:c.327+37G>C,\N,\N,5/20,Unknown significance,\N,intron_variant,1.063,0.0000160922,EXAC_NFE_AF,EPS8L2
211475,11:720262:G>A,NM_022772.3:c.327+39G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,5.359,0.00010533,EXAC_AFR_AF,EPS8L2
211476,11:720268:G>A,NM_022772.3:c.327+45G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,6.386,0.0000649604,EXAC_SAS_AF,EPS8L2
211477,11:720269:C>CGGGG,NM_022772.3:c.327+48_327+49insGGGG,\N,\N,5/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211478,11:720269:C>T,NM_022772.3:c.327+46C>T,\N,\N,5/20,Benign,\N,intron_variant,5.004,0.005,1KG_EUR_AF,EPS8L2
211479,11:720270:G>A,NM_022772.3:c.327+47G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,1.027,0.000590164,EXAC_SAS_AF,EPS8L2
211480,11:720274:G>A,NM_022772.3:c.327+51G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,3.586,0.0000166939,EXAC_NFE_AF,EPS8L2
211481,11:720293:C>T,NM_022772.3:c.327+70C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,5.445,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
211482,11:720298:G>T,NM_022772.3:c.327+75G>T,\N,\N,5/20,Unknown significance,\N,intron_variant,1.965,\N,\N,EPS8L2
211483,11:720300:G>C,NM_022772.3:c.327+77G>C,\N,\N,5/20,Unknown significance,\N,intron_variant,1.787,0.0015,1KG_AFR_AF,EPS8L2
211484,11:720301:C>T,NM_022772.3:c.327+78C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,3.855,\N,\N,EPS8L2
211485,11:720305:C>T,NM_022772.3:c.327+82C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,3.169,\N,\N,EPS8L2
211486,11:720323:C>T,NM_022772.3:c.327+100C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,4.076,0.001,1KG_EAS_AF,EPS8L2
211487,11:720333:C>T,NM_022772.3:c.327+110C>T,\N,\N,5/20,Benign,\N,intron_variant,4.71,0.0069,1KG_EAS_AF,EPS8L2
211488,11:720337:C>A,NM_022772.3:c.327+114C>A,\N,\N,5/20,Unknown significance,\N,intron_variant,7.831,0.001,1KG_EAS_AF,EPS8L2
211489,11:720338:A>T,NM_022772.3:c.327+115A>T,\N,\N,5/20,Unknown significance,\N,intron_variant,3.105,0.001,1KG_EAS_AF,EPS8L2
211490,11:720399:C>T,NM_022772.3:c.327+176C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,10.89,\N,\N,EPS8L2
211491,11:720416:C>A,NM_022772.3:c.328-181C>A,\N,\N,5/20,Unknown significance,\N,intron_variant,9.461,0.0023,1KG_AFR_AF,EPS8L2
211492,11:720420:G>C,NM_022772.3:c.328-177G>C,\N,\N,5/20,Unknown significance,\N,intron_variant,1.829,0.001,1KG_EUR_AF,EPS8L2
211493,11:720426:C>T,NM_022772.3:c.328-171C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,6.119,\N,\N,EPS8L2
211494,11:720428:T>C,NM_022772.3:c.328-169T>C,\N,\N,5/20,Benign,\N,intron_variant,1.028,0.0112,1KG_SAS_AF,EPS8L2
211495,11:720450:G>C,NM_022772.3:c.328-147G>C,\N,\N,5/20,Unknown significance,\N,intron_variant,3.007,0.003,1KG_AFR_AF,EPS8L2
211496,11:720455:G>A,NM_022772.3:c.328-142G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,5.938,0.0008,1KG_AFR_AF,EPS8L2
211497,11:720488:C>T,NM_022772.3:c.328-109C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,2.882,\N,\N,EPS8L2
211498,11:720505:C>T,NM_022772.3:c.328-92C>T,\N,\N,5/20,Benign,\N,intron_variant,7.095,0.0189394,EXAC_AFR_AF,EPS8L2
211499,11:720508:G>A,NM_022772.3:c.328-89G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,4.955,\N,\N,EPS8L2
211500,11:720523:C>G,NM_022772.3:c.328-74C>G,\N,\N,5/20,Unknown significance,\N,intron_variant,2.955,\N,\N,EPS8L2
211501,11:720533:G>A,NM_022772.3:c.328-64G>A,\N,\N,5/20,Unknown significance,\N,intron_variant,6.975,\N,\N,EPS8L2
211502,11:720538:C>G,NM_022772.3:c.328-59C>G,\N,\N,5/20,Unknown significance,\N,intron_variant,2.633,0.000335683,EXAC_NFE_AF,EPS8L2
211503,11:720540:C>T,NM_022772.3:c.328-57C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,6.783,0.000164204,EXAC_NFE_AF,EPS8L2
211504,11:720541:C>T,NM_022772.3:c.328-56C>T,\N,\N,5/20,Unknown significance,\N,intron_variant,6.977,0.000159795,EXAC_NFE_AF,EPS8L2
211505,11:720547:A>G,NM_022772.3:c.328-50A>G,\N,\N,5/20,Benign,\N,intron_variant,0.571,0.00632911,EXAC_OTH_AF,EPS8L2
211506,11:720552:GC>G,NM_022772.3:c.328-42del,\N,\N,5/20,Benign,\N,intron_variant,4.874,0.0950413,EXAC_FIN_AF,EPS8L2
211507,11:720564:G>A,NM_022772.3:c.328-33G>A,\N,\N,5/20,Likely benign,\N,intron_variant,3.765,0.000239866,EXAC_SAS_AF,EPS8L2
211508,11:720565:G>A,NM_022772.3:c.328-32G>A,\N,\N,5/20,Likely benign,\N,intron_variant,2.215,0.0000832778,EXAC_NFE_AF,EPS8L2
211509,11:720568:C>T,NM_022772.3:c.328-29C>T,\N,\N,5/20,Likely benign,\N,intron_variant,5.862,0.0000776398,EXAC_NFE_AF,EPS8L2
211510,11:720580:G>A,NM_022772.3:c.328-17G>A,\N,\N,5/20,Likely benign,\N,intron_variant,6.622,0.00213068,EXAC_EAS_AF,EPS8L2
211511,11:720593:G>A,NM_022772.3:c.328-4G>A,\N,\N,5/20,Unknown significance,\N,splice_region_variant&intron_variant,8.718,0.00106383,EXAC_FIN_AF,EPS8L2
211512,11:720599:G>A,NM_022772.3:c.330G>A,NP_073609.2:p.Glu110=,6/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.46,0.000104493,EXAC_SAS_AF,EPS8L2
211513,11:720609:G>A,NM_022772.3:c.340G>A,NP_073609.2:p.Asp114Asn,6/21,\N,Likely benign,\N,missense_variant,10.4,0.001,1KG_EAS_AF,EPS8L2
211514,11:720617:G>A,NM_022772.3:c.348G>A,NP_073609.2:p.Pro116=,6/21,\N,Unknown significance,\N,synonymous_variant,10.13,\N,\N,EPS8L2
211515,11:720625:C>G,NM_022772.3:c.356C>G,NP_073609.2:p.Thr119Arg,6/21,\N,Unknown significance,\N,missense_variant,22.6,0.0000367404,EXAC_NFE_AF,EPS8L2
211516,11:720633:C>A,NM_022772.3:c.364C>A,NP_073609.2:p.Arg122Ser,6/21,\N,Likely benign,\N,missense_variant,22.6,0.000203998,EXAC_AFR_AF,EPS8L2
211517,11:720635:C>T,NM_022772.3:c.366C>T,NP_073609.2:p.Arg122=,6/21,\N,Unknown significance,\N,synonymous_variant,12,\N,\N,EPS8L2
211518,11:720648:C>T,NM_022772.3:c.379C>T,NP_073609.2:p.Leu127Phe,6/21,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,EPS8L2
211519,11:720665:C>T,NM_022772.3:c.396C>T,NP_073609.2:p.Tyr132=,6/21,\N,Unknown significance,\N,synonymous_variant,9.069,0.00011655,EVS_EA_AF,EPS8L2
211520,11:720667:C>G,NM_022772.3:c.398C>G,NP_073609.2:p.Pro133Arg,6/21,\N,Likely benign,\N,missense_variant,17.89,0.000100422,EXAC_SAS_AF,EPS8L2
211521,11:720668:G>A,NM_022772.3:c.399G>A,NP_073609.2:p.Pro133=,6/21,\N,Unknown significance,\N,synonymous_variant,7.315,0.00153728,EXAC_AFR_AF,EPS8L2
211522,11:720675:C>A,NM_022772.3:c.406C>A,NP_073609.2:p.Leu136Met,6/21,\N,Unknown significance,\N,missense_variant,25,0.000116442,EVS_EA_AF,EPS8L2
211523,11:720676:T>C,NM_022772.3:c.407T>C,NP_073609.2:p.Leu136Pro,6/21,\N,Unknown significance,\N,missense_variant,26,0.000189897,EXAC_AFR_AF,EPS8L2
211524,11:720678:C>T,NM_022772.3:c.409C>T,NP_073609.2:p.Leu137=,6/21,\N,Unknown significance,\N,synonymous_variant,13.48,0.000100806,EXAC_SAS_AF,EPS8L2
211525,11:720680:G>A,NM_022772.3:c.411G>A,NP_073609.2:p.Leu137=,6/21,\N,Unknown significance,\N,synonymous_variant,9.824,0.000302237,EXAC_SAS_AF,EPS8L2
211526,11:720684:G>C,NM_022772.3:c.415G>C,NP_073609.2:p.Val139Leu,6/21,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,EPS8L2
211527,11:720684:G>T,NM_022772.3:c.415G>T,NP_073609.2:p.Val139Leu,6/21,\N,Unknown significance,\N,missense_variant,26.9,0.000116387,EVS_EA_AF,EPS8L2
211528,11:720689:C>G,NM_022772.3:c.420C>G,NP_073609.2:p.Cys140Trp,6/21,\N,Unknown significance,\N,missense_variant,28.2,0.001,1KG_EAS_AF,EPS8L2
211529,11:720697:C>T,NM_022772.3:c.428C>T,NP_073609.2:p.Ser143Leu,6/21,\N,Likely benign,\N,missense_variant,24.8,0.000033269,EXAC_NFE_AF,EPS8L2
211530,11:720702:C>G,NM_022772.3:c.433C>G,NP_073609.2:p.Gln145Glu,6/21,\N,Unknown significance,\N,missense_variant,25.4,0.000106655,EXAC_SAS_AF,EPS8L2
211531,11:720703:A>G,NM_022772.3:c.434A>G,NP_073609.2:p.Gln145Arg,6/21,\N,Unknown significance,\N,missense_variant,23.6,0.0000335053,EXAC_NFE_AF,EPS8L2
211532,11:720713:G>A,NM_022772.3:c.444G>A,NP_073609.2:p.Pro148=,6/21,\N,Unknown significance,\N,synonymous_variant,12.39,0.000227376,EVS_AA_AF,EPS8L2
211533,11:720714:G>C,NM_022772.3:c.445G>C,NP_073609.2:p.Asp149His,6/21,\N,Unknown significance,\N,missense_variant,25.4,0.000110229,EXAC_SAS_AF,EPS8L2
211534,11:720717:G>T,NM_022772.3:c.448G>T,NP_073609.2:p.Val150Phe,6/21,\N,Likely benign,\N,missense_variant,23.8,0.000034904,EXAC_NFE_AF,EPS8L2
211535,11:720735:G>A,NM_022772.3:c.466G>A,NP_073609.2:p.Asp156Asn,6/21,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,EPS8L2
211536,11:720742:TGGA>T,NM_022772.3:c.476_477+1del,\N,6/21,\N,Unknown significance,\N,inframe_deletion&splice_region_variant,20.8,\N,\N,EPS8L2
211537,11:720750:AGGCGGTGCCG>A,NM_022772.3:c.477+10_477+19del,\N,\N,6/20,Unknown significance,\N,splice_region_variant&intron_variant,9.934,\N,\N,EPS8L2
211538,11:720753:C>T,NM_022772.3:c.477+7C>T,\N,\N,6/20,Unknown significance,\N,splice_region_variant&intron_variant,4.286,0.000174459,EXAC_SAS_AF,EPS8L2
211539,11:720759:C>T,NM_022772.3:c.477+13C>T,\N,\N,6/20,Unknown significance,\N,intron_variant,5.616,\N,\N,EPS8L2
211540,11:720760:G>A,NM_022772.3:c.477+14G>A,\N,\N,6/20,Unknown significance,\N,intron_variant,5.659,\N,\N,EPS8L2
211541,11:720760:G>C,NM_022772.3:c.477+14G>C,\N,\N,6/20,Unknown significance,\N,intron_variant,2.91,\N,\N,EPS8L2
211542,11:720763:C>T,NM_022772.3:c.477+17C>T,\N,\N,6/20,Benign,\N,intron_variant,8.167,0.0385852,EXAC_AFR_AF,EPS8L2
211543,11:720764:G>A,NM_022772.3:c.477+18G>A,\N,\N,6/20,Unknown significance,\N,intron_variant,4.761,0.000250752,EXAC_NFE_AF,EPS8L2
211544,11:720767:G>A,NM_022772.3:c.477+21G>A,\N,\N,6/20,Benign,\N,intron_variant,6.597,0.0110132,EXAC_EAS_AF,EPS8L2
211545,11:720773:T>G,NM_022772.3:c.477+27T>G,\N,\N,6/20,Unknown significance,\N,intron_variant,0.877,0.0027027,EXAC_AFR_AF,EPS8L2
211546,11:720777:G>C,NM_022772.3:c.477+31G>C,\N,\N,6/20,Unknown significance,\N,intron_variant,5.245,\N,\N,EPS8L2
211547,11:720777:G>GC,NM_022772.3:c.477+35dup,\N,\N,6/20,Unknown significance,\N,intron_variant,6.57,\N,\N,EPS8L2
211548,11:720778:C>T,NM_022772.3:c.477+32C>T,\N,\N,6/20,Unknown significance,\N,intron_variant,7.957,0.0031,1KG_SAS_AF,EPS8L2
211549,11:720780:C>CCGCCG,NM_022772.3:c.478-40_478-36dup,\N,\N,6/20,Unknown significance,\N,intron_variant,9.602,\N,\N,EPS8L2
211550,11:720780:C>G,NM_022772.3:c.477+34C>G,\N,\N,6/20,Unknown significance,\N,intron_variant,7.432,\N,\N,EPS8L2
211551,11:720781:C>T,NM_022772.3:c.477+35C>T,\N,\N,6/20,Unknown significance,\N,intron_variant,7.325,\N,\N,EPS8L2
211552,11:720812:T>C,NM_022772.3:c.478-18T>C,\N,\N,6/20,Unknown significance,\N,intron_variant,5.265,0.000621891,EXAC_NFE_AF,EPS8L2
211553,11:720819:C>T,NM_022772.3:c.478-11C>T,\N,\N,6/20,Unknown significance,\N,intron_variant,9.59,\N,\N,EPS8L2
211554,11:720845:G>T,NM_022772.3:c.493G>T,NP_073609.2:p.Glu165Ter,7/21,\N,Unknown significance,\N,stop_gained,41,\N,\N,EPS8L2
211555,11:720866:G>T,NM_022772.3:c.514G>T,NP_073609.2:p.Ala172Ser,7/21,\N,Unknown significance,\N,missense_variant,22.2,\N,\N,EPS8L2
211556,11:720867:C>T,NM_022772.3:c.515C>T,NP_073609.2:p.Ala172Val,7/21,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,EPS8L2
211557,11:720868:C>G,NM_022772.3:c.516C>G,NP_073609.2:p.Ala172=,7/21,\N,Unknown significance,\N,synonymous_variant,17.18,0.0021645,EXAC_AFR_AF,EPS8L2
211558,11:720881:G>GGC,NM_022772.3:c.530_531dup,NP_073609.2:p.Lys178AlafsTer9,7/21,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,EPS8L2
211559,11:720883:CAAG>C,NM_022772.3:c.536_538del,NP_073609.2:p.Lys179del,7/21,\N,Unknown significance,\N,inframe_deletion,22.7,\N,\N,EPS8L2
211560,11:720892:G>A,NM_022772.3:c.540G>A,NP_073609.2:p.Met180Ile,7/21,\N,Likely benign,\N,missense_variant,22.5,\N,\N,EPS8L2
211561,11:720892:G>GCGGC,NM_022772.3:c.543_546dup,NP_073609.2:p.Gln183AlafsTer130,7/21,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,EPS8L2
211562,11:720907:G>T,NM_022772.3:c.555G>T,NP_073609.2:p.Leu185=,7/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.21,0.000132873,EXAC_SAS_AF,EPS8L2
211563,11:720912:A>G,NM_022772.3:c.557+3A>G,\N,\N,7/20,Unknown significance,\N,splice_region_variant&intron_variant,17.34,0.0008,1KG_AFR_AF,EPS8L2
211564,11:720919:C>CGGGCGGAGCGGGGTCGCAGG,NM_022772.3:c.557+17_557+36dup,\N,\N,7/20,Unknown significance,\N,intron_variant,6.101,\N,\N,EPS8L2
211565,11:720939:G>A,NM_022772.3:c.557+30G>A,\N,\N,7/20,Unknown significance,\N,intron_variant,5.108,0.000140135,EXAC_SAS_AF,EPS8L2
211566,11:720940:GGGCGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCC>G,NM_022772.3:c.557+35_557+74del,\N,\N,7/20,Unknown significance,\N,intron_variant,6.899,\N,\N,EPS8L2
211567,11:720943:C>CA,NM_022772.3:c.557+34_557+35insA,\N,\N,7/20,Unknown significance,\N,intron_variant,7.63,0.00431566,EXAC_SAS_AF,EPS8L2
211568,11:720943:CGGGGAGGGGAGGAGCCCGGCA>C,NM_022772.3:c.557+51_557+71del,\N,\N,7/20,Benign,\N,intron_variant,8.766,0.0339506,EXAC_NFE_AF,EPS8L2
211569,11:720943:CGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCA>C,NM_022772.3:c.557+59_558-56del,\N,\N,7/20,Unknown significance,\N,intron_variant,6.564,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
211570,11:720943:C>CGGGGAGGGGAGGAGCCCGGCA,NM_022772.3:c.557+51_557+71dup,\N,\N,7/20,Unknown significance,\N,intron_variant,\N,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,EPS8L2
211571,11:720950:G>T,NM_022772.3:c.557+41G>T,\N,\N,7/20,Benign,\N,intron_variant,1.702,0.00862069,EXAC_OTH_AF,EPS8L2
211572,11:720955:G>A,NM_022772.3:c.557+46G>A,\N,\N,7/20,Benign,\N,intron_variant,7.18,0.00625,EXAC_EAS_AF,EPS8L2
211573,11:720956:A>G,NM_022772.3:c.557+47A>G,\N,\N,7/20,Unknown significance,\N,intron_variant,7.472,\N,\N,EPS8L2
211574,11:720956:AGCCCGGCAGGGGAGGGGAGG>A,NM_022772.3:c.557+48_557+67del,\N,\N,7/20,Unknown significance,\N,intron_variant,9.468,\N,\N,EPS8L2
211575,11:720957:GC>G,NM_022772.3:c.557+51del,\N,\N,7/20,Benign,\N,intron_variant,9.712,0.00625,EXAC_EAS_AF,EPS8L2
211576,11:720958:C>CCCGGCAGGGGAGGGGAGGAG,NM_022772.3:c.557+72_558-64dup,\N,\N,7/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211577,11:720958:CCCGGCAGGGGAGGGGAGGAG>C,NM_022772.3:c.557+72_558-64del,\N,\N,7/20,Unknown significance,\N,intron_variant,8.205,\N,\N,EPS8L2
211578,11:720960:C>A,NM_022772.3:c.557+51C>A,\N,\N,7/20,Unknown significance,\N,intron_variant,9.532,\N,\N,EPS8L2
211579,11:720961:G>A,NM_022772.3:c.557+52G>A,\N,\N,7/20,Unknown significance,\N,intron_variant,7.533,0.00015868,EXAC_SAS_AF,EPS8L2
211580,11:720978:G>GC,NM_022772.3:c.557+71dup,\N,\N,7/20,Benign,\N,intron_variant,2.559,0.5179,1KG_EUR_AF,EPS8L2
211581,11:720978:G>GCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGC,NM_022772.3:c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCC,\N,\N,7/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211582,11:720979:C>CCCGG,NM_022772.3:c.557+71_557+72insCGGC,\N,\N,7/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211583,11:720984:AG>A,NM_022772.3:c.558-76del,\N,\N,7/20,Unknown significance,\N,intron_variant,2.361,\N,\N,EPS8L2
211584,11:720985:G>GGGA,NM_022772.3:c.558-77_558-76insAGG,\N,\N,7/20,Unknown significance,\N,intron_variant,3.587,\N,\N,EPS8L2
211585,11:720985:GGGGAGGGGAGGAGCCCGGCA>G,NM_022772.3:c.558-71_558-52del,\N,\N,7/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
211586,11:721005:A>AG,NM_022772.3:c.558-56dup,\N,\N,7/20,Unknown significance,\N,intron_variant,0.868,\N,\N,EPS8L2
211587,11:721013:A>AGGGG,NM_022772.3:c.558-48_558-47insGGGG,\N,\N,7/20,Unknown significance,\N,intron_variant,2.566,0.00151745,EXAC_AFR_AF,EPS8L2
211588,11:721013:A>G,NM_022772.3:c.558-51A>G,\N,\N,7/20,Benign,\N,intron_variant,6.738,0.1089,1KG_AFR_AF,EPS8L2
211589,11:721014:G>A,NM_022772.3:c.558-50G>A,\N,\N,7/20,Unknown significance,\N,intron_variant,7.148,0.001,1KG_EAS_AF,EPS8L2
211590,11:721015:G>GAGCC,NM_022772.3:c.558-49_558-48insAGCC,\N,\N,7/20,Unknown significance,\N,intron_variant,5.967,\N,\N,EPS8L2
211591,11:721016:GT>G,NM_022772.3:c.558-47del,\N,\N,7/20,Unknown significance,\N,intron_variant,1.711,\N,\N,EPS8L2
211592,11:721017:T>G,NM_022772.3:c.558-47T>G,\N,\N,7/20,Unknown significance,\N,intron_variant,5.217,\N,\N,EPS8L2
211593,11:721018:C>G,NM_022772.3:c.558-46C>G,\N,\N,7/20,Unknown significance,\N,intron_variant,6.875,\N,\N,EPS8L2
211594,11:721019:A>G,NM_022772.3:c.558-45A>G,\N,\N,7/20,Benign,\N,intron_variant,7.187,0.0788712,EXAC_AFR_AF,EPS8L2
211595,11:721022:T>A,NM_022772.3:c.558-42T>A,\N,\N,7/20,Unknown significance,\N,intron_variant,6.521,\N,\N,EPS8L2
211596,11:721023:G>A,NM_022772.3:c.558-41G>A,\N,\N,7/20,Unknown significance,\N,intron_variant,4.686,0.000120598,EVS_EA_AF,EPS8L2
211597,11:721023:G>GCGTTC,NM_022772.3:c.558-39_558-35dup,\N,\N,7/20,Unknown significance,\N,intron_variant,4.143,0.000847458,EXAC_SAS_AF,EPS8L2
211598,11:721024:C>T,NM_022772.3:c.558-40C>T,\N,\N,7/20,Unknown significance,\N,intron_variant,5.557,\N,\N,EPS8L2
211599,11:721030:C>A,NM_022772.3:c.558-34C>A,\N,\N,7/20,Unknown significance,\N,intron_variant,7.185,\N,\N,EPS8L2
211600,11:721030:C>T,NM_022772.3:c.558-34C>T,\N,\N,7/20,Unknown significance,\N,intron_variant,5.963,0.001,1KG_EAS_AF|1KG_EUR_AF,EPS8L2
211601,11:721031:G>C,NM_022772.3:c.558-33G>C,\N,\N,7/20,Unknown significance,\N,intron_variant,4.361,0.00035137,EXAC_NFE_AF,EPS8L2
211602,11:721032:G>A,NM_022772.3:c.558-32G>A,\N,\N,7/20,Unknown significance,\N,intron_variant,2.374,\N,\N,EPS8L2
211603,11:721051:C>T,NM_022772.3:c.558-13C>T,\N,\N,7/20,Unknown significance,\N,intron_variant,7.181,0.0008,1KG_AFR_AF,EPS8L2
211604,11:721054:C>A,NM_022772.3:c.558-10C>A,\N,\N,7/20,Unknown significance,\N,intron_variant,7.9,\N,\N,EPS8L2
211605,11:721056:C>A,NM_022772.3:c.558-8C>A,\N,\N,7/20,Unknown significance,\N,splice_region_variant&intron_variant,8.945,0.000705219,EXAC_AFR_AF,EPS8L2
211606,11:721084:G>A,NM_022772.3:c.578G>A,NP_073609.2:p.Arg193Gln,8/21,\N,Likely benign,\N,missense_variant,21.3,0.000304321,EXAC_NFE_AF,EPS8L2
211607,11:721090:G>C,NM_022772.3:c.584G>C,NP_073609.2:p.Arg195Pro,8/21,\N,Unknown significance,\N,missense_variant,25.2,0.000681199,EXAC_AFR_AF,EPS8L2
211608,11:721104:C>T,NM_022772.3:c.598C>T,NP_073609.2:p.Pro200Ser,8/21,\N,Unknown significance,\N,missense_variant,28.5,\N,\N,EPS8L2
211609,11:721115:G>A,NM_022772.3:c.609G>A,NP_073609.2:p.Gln203=,8/21,\N,Unknown significance,\N,synonymous_variant,8.299,\N,\N,EPS8L2
211610,11:721122:G>T,NM_022772.3:c.616G>T,NP_073609.2:p.Ala206Ser,8/21,\N,Unknown significance,\N,missense_variant,9.49,0.00245365,EXAC_NFE_AF,EPS8L2
211611,11:721146:G>A,NM_022772.3:c.640G>A,NP_073609.2:p.Gly214Ser,8/21,\N,Benign,\N,missense_variant,0.007,0.0069,1KG_EAS_AF,EPS8L2
211612,11:721148:C>T,NM_022772.3:c.642C>T,NP_073609.2:p.Gly214=,8/21,\N,Unknown significance,\N,synonymous_variant,11.19,\N,\N,EPS8L2
211613,11:721166:C>G,NM_022772.3:c.660C>G,NP_073609.2:p.Ala220=,8/21,\N,Unknown significance,\N,synonymous_variant,8.957,\N,\N,EPS8L2
211614,11:721171:A>C,NM_022772.3:c.665A>C,NP_073609.2:p.Asn222Thr,8/21,\N,Unknown significance,\N,missense_variant,9.155,\N,\N,EPS8L2
211615,11:721174:G>A,NM_022772.3:c.668G>A,NP_073609.2:p.Arg223His,8/21,\N,Unknown significance,\N,missense_variant,24.4,0.000170765,EXAC_SAS_AF,EPS8L2
211616,11:721180:G>C,NM_022772.3:c.674G>C,NP_073609.2:p.Gly225Ala,8/21,\N,Likely benign,\N,missense_variant,0.005,0.00125945,EXAC_AFR_AF,EPS8L2
211617,11:721190:G>A,NM_022772.3:c.684G>A,NP_073609.2:p.Val228=,8/21,\N,Unknown significance,\N,synonymous_variant,4.073,0.000164204,EXAC_SAS_AF,EPS8L2
211618,11:721198:G>C,NM_022772.3:c.692G>C,NP_073609.2:p.Ser231Thr,8/21,\N,Likely benign,\N,missense_variant,0.117,0.0008,1KG_AFR_AF,EPS8L2
211619,11:721215:A>AG,NM_022772.3:c.700+13dup,\N,\N,8/20,Unknown significance,\N,intron_variant,0.767,\N,\N,EPS8L2
211620,11:721228:G>A,NM_022772.3:c.700+22G>A,\N,\N,8/20,Benign,\N,intron_variant,8.558,0.0256,1KG_SAS_AF,EPS8L2
211621,11:721229:G>A,NM_022772.3:c.700+23G>A,\N,\N,8/20,Unknown significance,\N,intron_variant,6.619,0.0008,1KG_AFR_AF,EPS8L2
211622,11:721230:C>A,NM_022772.3:c.700+24C>A,\N,\N,8/20,Unknown significance,\N,intron_variant,7.723,\N,\N,EPS8L2
211623,11:721251:G>C,NM_022772.3:c.701-34G>C,\N,\N,8/20,Unknown significance,\N,intron_variant,4.496,\N,\N,EPS8L2
211624,11:721252:G>A,NM_022772.3:c.701-33G>A,\N,\N,8/20,Benign,\N,intron_variant,6.356,0.0461538,EXAC_EAS_AF,EPS8L2
211625,11:721253:G>T,NM_022772.3:c.701-32G>T,\N,\N,8/20,Unknown significance,\N,intron_variant,1.837,0.000247158,EXAC_NFE_AF,EPS8L2
211626,11:721254:C>T,NM_022772.3:c.701-31C>T,\N,\N,8/20,Unknown significance,\N,intron_variant,6.207,0.000137212,EXAC_SAS_AF,EPS8L2
211627,11:721273:G>A,NM_022772.3:c.701-12G>A,\N,\N,8/20,Unknown significance,\N,intron_variant,6.383,0.0014,1KG_AMR_AF,EPS8L2
211628,11:721279:C>T,NM_022772.3:c.701-6C>T,\N,\N,8/20,Unknown significance,\N,splice_region_variant&intron_variant,5.024,\N,\N,EPS8L2
211629,11:721291:G>C,NM_022772.3:c.707G>C,NP_073609.2:p.Arg236Pro,9/21,\N,Likely benign,\N,missense_variant,13.7,0.000206526,EXAC_NFE_AF,EPS8L2
211630,11:721293:C>T,NM_022772.3:c.709C>T,NP_073609.2:p.Arg237Cys,9/21,\N,Unknown significance,\N,missense_variant,23.5,0.0010395,EXAC_AFR_AF,EPS8L2
211631,11:721315:C>T,NM_022772.3:c.731C>T,NP_073609.2:p.Pro244Leu,9/21,\N,Unknown significance,\N,missense_variant,25,0.0015,1KG_AFR_AF,EPS8L2
211632,11:721316:G>A,NM_022772.3:c.732G>A,NP_073609.2:p.Pro244=,9/21,\N,Unknown significance,\N,synonymous_variant,12.09,0.000203749,EXAC_NFE_AF,EPS8L2
211633,11:721318:G>A,NM_022772.3:c.734G>A,NP_073609.2:p.Arg245Gln,9/21,\N,Unknown significance,\N,missense_variant,24,0.001,1KG_EAS_AF,EPS8L2
211634,11:721323:G>A,NM_022772.3:c.739G>A,NP_073609.2:p.Val247Met,9/21,\N,Likely benign,\N,missense_variant,0.541,0.000130685,EVS_EA_AF,EPS8L2
211635,11:721326:C>T,NM_022772.3:c.742C>T,NP_073609.2:p.Leu248=,9/21,\N,Unknown significance,\N,synonymous_variant,13.6,\N,\N,EPS8L2
211636,11:721329:G>A,NM_022772.3:c.745G>A,NP_073609.2:p.Ala249Thr,9/21,\N,Benign,\N,missense_variant,24.6,0.00704225,EXAC_OTH_AF,EPS8L2
211637,11:721331:T>C,NM_022772.3:c.747T>C,NP_073609.2:p.Ala249=,9/21,\N,Unknown significance,\N,synonymous_variant,6.654,\N,\N,EPS8L2
211638,11:721336:A>T,NM_022772.3:c.752A>T,NP_073609.2:p.Lys251Met,9/21,\N,Likely benign,\N,missense_variant,25.6,0.00194932,EXAC_AFR_AF,EPS8L2
211639,11:721344:A>G,NM_022772.3:c.760A>G,NP_073609.2:p.Lys254Glu,9/21,\N,Unknown significance,\N,missense_variant,27.4,\N,\N,EPS8L2
211640,11:721352:G>A,NM_022772.3:c.768G>A,NP_073609.2:p.Thr256=,9/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,19.12,0.000139121,EXAC_SAS_AF,EPS8L2
211641,11:721374:G>T,NM_022772.3:c.768+22G>T,\N,\N,9/20,Unknown significance,\N,intron_variant,3.476,\N,\N,EPS8L2
211642,11:721378:C>T,NM_022772.3:c.768+26C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,5.015,\N,\N,EPS8L2
211643,11:721381:C>T,NM_022772.3:c.768+29C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,6.509,0.00105042,EXAC_AFR_AF,EPS8L2
211644,11:721404:G>A,NM_022772.3:c.768+52G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,4.635,0.000760264,EXAC_NFE_AF,EPS8L2
211645,11:721423:C>T,NM_022772.3:c.768+71C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,8.564,0.001,1KG_EUR_AF,EPS8L2
211646,11:721481:C>T,NM_022772.3:c.769-84C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,7.694,0.001,1KG_EUR_AF,EPS8L2
211647,11:721490:T>G,NM_022772.3:c.769-75T>G,\N,\N,9/20,Benign,\N,intron_variant,6.253,0.0446,1KG_EAS_AF,EPS8L2
211648,11:721515:G>A,NM_022772.3:c.769-50G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,4.168,0.002,1KG_EAS_AF,EPS8L2
211649,11:721517:G>A,NM_022772.3:c.769-48G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,4.965,0.000103498,EXAC_AMR_AF,EPS8L2
211650,11:721518:G>A,NM_022772.3:c.769-47G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,2.084,0.000109266,EXAC_SAS_AF,EPS8L2
211651,11:721519:C>A,NM_022772.3:c.769-46C>A,\N,\N,9/20,Unknown significance,\N,intron_variant,2.047,0.001,1KG_EUR_AF,EPS8L2
211652,11:721523:G>A,NM_022772.3:c.769-42G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,6.406,0.000103029,EXAC_AMR_AF,EPS8L2
211653,11:721528:G>C,NM_022772.3:c.769-37G>C,\N,\N,9/20,Unknown significance,\N,intron_variant,1.919,0.000513558,EXAC_AMR_AF,EPS8L2
211654,11:721531:T>C,NM_022772.3:c.769-34T>C,\N,\N,9/20,Unknown significance,\N,intron_variant,5.511,0.000138236,EXAC_AFR_AF,EPS8L2
211655,11:721534:G>A,NM_022772.3:c.769-31G>A,\N,\N,9/20,Unknown significance,\N,intron_variant,5.406,0.00118534,EXAC_SAS_AF,EPS8L2
211656,11:721537:G>T,NM_022772.3:c.769-28G>T,\N,\N,9/20,Unknown significance,\N,intron_variant,3.477,0.0000378788,EXAC_NFE_AF,EPS8L2
211657,11:721541:A>T,NM_022772.3:c.769-24A>T,\N,\N,9/20,Unknown significance,\N,intron_variant,5.478,\N,\N,EPS8L2
211658,11:721542:C>T,NM_022772.3:c.769-23C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,8.008,0.000199124,EXAC_AMR_AF,EPS8L2
211659,11:721549:C>A,NM_022772.3:c.769-16C>A,\N,\N,9/20,Unknown significance,\N,intron_variant,9.572,0.000254323,EXAC_EAS_AF,EPS8L2
211660,11:721554:T>C,NM_022772.3:c.769-11T>C,\N,\N,9/20,Unknown significance,\N,intron_variant,13.3,0.0000355088,EXAC_NFE_AF,EPS8L2
211661,11:721555:C>T,NM_022772.3:c.769-10C>T,\N,\N,9/20,Unknown significance,\N,intron_variant,13.94,0.00146628,EXAC_OTH_AF,EPS8L2
211662,11:721563:A>C,NM_022772.3:c.769-2A>C,\N,\N,9/20,Unknown significance,\N,splice_acceptor_variant,23.5,\N,\N,EPS8L2
211663,11:721563:A>T,NM_022772.3:c.769-2A>T,\N,\N,9/20,Unknown significance,\N,splice_acceptor_variant,23.6,\N,\N,EPS8L2
211664,11:721567:A>C,NM_022772.3:c.771A>C,NP_073609.2:p.Gln257His,10/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.2,0.000240732,EXAC_EAS_AF,EPS8L2
211665,11:721570:C>T,NM_022772.3:c.774C>T,NP_073609.2:p.Ile258=,10/21,\N,Benign,\N,synonymous_variant,16.38,0.585233,EXAC_AMR_AF,EPS8L2
211666,11:721579:C>T,NM_022772.3:c.783C>T,NP_073609.2:p.Cys261=,10/21,\N,Benign,\N,synonymous_variant,16.74,0.00600848,EXAC_EAS_AF,EPS8L2
211667,11:721580:G>A,NM_022772.3:c.784G>A,NP_073609.2:p.Ala262Thr,10/21,\N,Likely benign,\N,missense_variant,19.08,0.000117758,EXAC_EAS_AF,EPS8L2
211668,11:721583:C>A,NM_022772.3:c.787C>A,NP_073609.2:p.Leu263Met,10/21,\N,Unknown significance,\N,missense_variant,27.1,0.000152788,EXAC_SAS_AF,EPS8L2
211669,11:721583:C>T,NM_022772.3:c.787C>T,NP_073609.2:p.Leu263=,10/21,\N,Unknown significance,\N,synonymous_variant,14.09,0.0015,1KG_AFR_AF,EPS8L2
211670,11:721588:C>A,NM_022772.3:c.792C>A,NP_073609.2:p.Asp264Glu,10/21,\N,Unknown significance,\N,missense_variant,26.4,0.000106678,EXAC_AFR_AF,EPS8L2
211671,11:721589:G>A,NM_022772.3:c.793G>A,NP_073609.2:p.Asp265Asn,10/21,\N,Unknown significance,\N,missense_variant,32,0.0000158831,EXAC_NFE_AF,EPS8L2
211672,11:721593:T>C,NM_022772.3:c.797T>C,NP_073609.2:p.Ile266Thr,10/21,\N,Unknown significance,\N,missense_variant,25.1,0.000117454,EXAC_EAS_AF,EPS8L2
211673,11:721597:G>C,NM_022772.3:c.801G>C,NP_073609.2:p.Glu267Asp,10/21,\N,Unknown significance,\N,missense_variant,24.6,0.0000158549,EXAC_NFE_AF,EPS8L2
211674,11:721601:T>C,NM_022772.3:c.805T>C,NP_073609.2:p.Phe269Leu,10/21,\N,Unknown significance,\N,missense_variant,26.6,0.000229043,EVS_AA_AF,EPS8L2
211675,11:721609:C>T,NM_022772.3:c.813C>T,NP_073609.2:p.Ala271=,10/21,\N,Unknown significance,\N,synonymous_variant,9.413,\N,\N,EPS8L2
211676,11:721610:C>T,NM_022772.3:c.814C>T,NP_073609.2:p.Arg272Trp,10/21,\N,Unknown significance,\N,missense_variant,28.1,0.0000482021,EXAC_NFE_AF,EPS8L2
211677,11:721611:G>A,NM_022772.3:c.815G>A,NP_073609.2:p.Arg272Gln,10/21,\N,Unknown significance,\N,missense_variant,24.9,0.0000484293,EXAC_NFE_AF,EPS8L2
211678,11:721621:G>C,NM_022772.3:c.825G>C,NP_073609.2:p.Lys275Asn,10/21,\N,Unknown significance,\N,missense_variant,25,0.000016072,EXAC_NFE_AF,EPS8L2
211679,11:721627:C>T,NM_022772.3:c.831C>T,NP_073609.2:p.Ala277=,10/21,\N,Unknown significance,\N,synonymous_variant,9.609,0.000016055,EXAC_NFE_AF,EPS8L2
211680,11:721628:G>A,NM_022772.3:c.832G>A,NP_073609.2:p.Glu278Lys,10/21,\N,Unknown significance,\N,missense_variant,27.4,0.0000319061,EXAC_NFE_AF,EPS8L2
211681,11:721630:G>A,NM_022772.3:c.834G>A,NP_073609.2:p.Glu278=,10/21,\N,Unknown significance,\N,synonymous_variant,1.867,0.0000158831,EXAC_NFE_AF,EPS8L2
211682,11:721630:G>C,NM_022772.3:c.834G>C,NP_073609.2:p.Glu278Asp,10/21,\N,Unknown significance,\N,missense_variant,22.9,0.000176118,EXAC_AMR_AF,EPS8L2
211683,11:721637:A>G,NM_022772.3:c.841A>G,NP_073609.2:p.Lys281Glu,10/21,\N,Unknown significance,\N,missense_variant,15.88,0.0000158228,EXAC_NFE_AF,EPS8L2
211684,11:721643:C>G,NM_022772.3:c.847C>G,NP_073609.2:p.Leu283Val,10/21,\N,Unknown significance,\N,missense_variant,24.3,0.0000631951,EXAC_NFE_AF,EPS8L2
211685,11:721649:C>T,NM_022772.3:c.853C>T,NP_073609.2:p.Gln285Ter,10/21,\N,Unknown significance,\N,stop_gained,36,0.000455927,EXAC_FIN_AF,EPS8L2
211686,11:721652:C>T,NM_022772.3:c.856C>T,NP_073609.2:p.Arg286Trp,10/21,\N,Unknown significance,\N,missense_variant,28.3,0.000107619,EXAC_AFR_AF,EPS8L2
211687,11:721657:A>T,NM_022772.3:c.861A>T,NP_073609.2:p.Lys287Asn,10/21,\N,Likely benign,\N,missense_variant,9.172,0.000116604,EVS_EA_AF,EPS8L2
211688,11:721661:G>A,NM_022772.3:c.865G>A,NP_073609.2:p.Gly289Arg,10/21,\N,Unknown significance,\N,missense_variant,23.6,0.0000157149,EXAC_NFE_AF,EPS8L2
211689,11:721662:G>GGAA,NM_022772.3:c.874_876dup,NP_073609.2:p.Lys292dup,10/21,\N,Unknown significance,\N,inframe_insertion,\N,0.000117233,EXAC_EAS_AF,EPS8L2
211690,11:721662:GGAA>G,NM_022772.3:c.874_876del,NP_073609.2:p.Lys292del,10/21,\N,Unknown significance,\N,inframe_deletion,10.29,0.0000157238,EXAC_NFE_AF,EPS8L2
211691,11:721663:G>A,NM_022772.3:c.867G>A,NP_073609.2:p.Gly289=,10/21,\N,Unknown significance,\N,synonymous_variant,6.229,0.0000157252,EXAC_NFE_AF,EPS8L2
211692,11:721672:G>A,NM_022772.3:c.876G>A,NP_073609.2:p.Lys292=,10/21,\N,Unknown significance,\N,synonymous_variant,7.474,0.000227998,EVS_AA_AF,EPS8L2
211693,11:721673:G>A,NM_022772.3:c.877G>A,NP_073609.2:p.Gly293Ser,10/21,\N,Likely benign,\N,missense_variant,16.2,0.001,1KG_SAS_AF,EPS8L2
211694,11:721678:G>A,NM_022772.3:c.882G>A,NP_073609.2:p.Lys294=,10/21,\N,Unknown significance,\N,synonymous_variant,8.946,0.0000663746,EXAC_SAS_AF,EPS8L2
211695,11:721680:A>G,NM_022772.3:c.884A>G,NP_073609.2:p.Lys295Arg,10/21,\N,Unknown significance,\N,missense_variant,11.24,0.0000664364,EXAC_SAS_AF,EPS8L2
211696,11:721683:CGCCAGCAGGTGCAGGGGACAGGGACGGGGCCGGCAGGTGCAGGGGACGGG>C,NM_022772.3:c.895+22_895+71del,\N,10/21,10/20,Unknown significance,\N,splice_donor_variant&coding_sequence_variant&intron_variant,28,\N,\N,EPS8L2
211697,11:721684:G>A,NM_022772.3:c.888G>A,NP_073609.2:p.Ala296=,10/21,\N,Unknown significance,\N,synonymous_variant,11.15,0.0014,1KG_AMR_AF,EPS8L2
211698,11:721687:AGCAGGTGCAGGGGACAGGGACGGGGCCG>A,NM_022772.3:c.895+12_895+39del,\N,10/21,10/20,Unknown significance,\N,splice_donor_variant&coding_sequence_variant&intron_variant,29.6,\N,\N,EPS8L2
211699,11:721689:C>G,NM_022772.3:c.893C>G,NP_073609.2:p.Ala298Gly,10/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.3,0.0000656426,EXAC_SAS_AF,EPS8L2
211700,11:721689:C>T,NM_022772.3:c.893C>T,NP_073609.2:p.Ala298Val,10/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.6,0.000116659,EVS_EA_AF,EPS8L2
211701,11:721692:G>A,NM_022772.3:c.895+1G>A,\N,\N,10/20,Unknown significance,\N,splice_donor_variant,23.9,0.0000652571,EXAC_SAS_AF,EPS8L2
211702,11:721694:G>A,NM_022772.3:c.895+3G>A,\N,\N,10/20,Unknown significance,\N,splice_region_variant&intron_variant,10.39,0.000121095,EXAC_EAS_AF,EPS8L2
211703,11:721696:A>C,NM_022772.3:c.895+5A>C,\N,\N,10/20,Unknown significance,\N,splice_region_variant&intron_variant,1.79,0.000121684,EXAC_EAS_AF,EPS8L2
211704,11:721696:A>G,NM_022772.3:c.895+5A>G,\N,\N,10/20,Unknown significance,\N,splice_region_variant&intron_variant,4.031,0.003,1KG_AFR_AF,EPS8L2
211705,11:721700:G>A,NM_022772.3:c.895+9G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.802,0.000123305,EXAC_EAS_AF,EPS8L2
211706,11:721703:A>AGGGACGGGGCCGGCAGGTGCAG,NM_022772.3:c.895+24_895+45dup,\N,\N,10/20,Unknown significance,\N,intron_variant,0.168,\N,\N,EPS8L2
211707,11:721704:G>A,NM_022772.3:c.895+13G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.852,0.000229463,EVS_AA_AF,EPS8L2
211708,11:721705:G>A,NM_022772.3:c.895+14G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.079,0.0000665779,EXAC_SAS_AF,EPS8L2
211709,11:721709:G>A,NM_022772.3:c.895+18G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,1.238,0.00026738,EXAC_SAS_AF,EPS8L2
211710,11:721710:G>A,NM_022772.3:c.895+19G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.286,0.000204332,EXAC_AMR_AF,EPS8L2
211711,11:721713:CCGGCAGG>C,NM_022772.3:c.895+23_895+29del,\N,\N,10/20,Unknown significance,\N,intron_variant,3.732,\N,\N,EPS8L2
211712,11:721714:C>T,NM_022772.3:c.895+23C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.305,0.000017101,EXAC_NFE_AF,EPS8L2
211713,11:721715:G>A,NM_022772.3:c.895+24G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,2.442,0.000407166,EXAC_EAS_AF,EPS8L2
211714,11:721715:G>GGCAGGTGCAGGGGACGGGGCCA,NM_022772.3:c.895+40_895+61dup,\N,\N,10/20,Unknown significance,\N,intron_variant,\N,0.0000346141,EXAC_NFE_AF,EPS8L2
211715,11:721715:GGCAGGTGCAGGGGACGGGGCCA>G,NM_022772.3:c.895+40_895+61del,\N,\N,10/20,Benign,\N,intron_variant,4.282,0.2927,1KG_AFR_AF,EPS8L2
211716,11:721719:G>T,NM_022772.3:c.895+28G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,1.733,0.00012276,EXAC_AMR_AF,EPS8L2
211717,11:721722:GCAGGGGACGGGGCCA>G,NM_022772.3:c.895+32_895+46del,\N,\N,10/20,Unknown significance,\N,intron_variant,5.262,0.0000225774,EXAC_NFE_AF,EPS8L2
211718,11:721724:A>T,NM_022772.3:c.895+33A>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.276,0.0000229758,EXAC_NFE_AF,EPS8L2
211719,11:721725:G>C,NM_022772.3:c.895+34G>C,\N,\N,10/20,Unknown significance,\N,intron_variant,1.035,0.0000778695,EXAC_SAS_AF,EPS8L2
211720,11:721725:G>GGGGACA,NM_022772.3:c.895+39_895+40insAGGGAC,\N,\N,10/20,Unknown significance,\N,intron_variant,3.221,\N,\N,EPS8L2
211721,11:721726:G>A,NM_022772.3:c.895+35G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.83,0.0000780884,EXAC_SAS_AF,EPS8L2
211722,11:721728:G>A,NM_022772.3:c.895+37G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.778,0.0031,1KG_SAS_AF,EPS8L2
211723,11:721728:G>T,NM_022772.3:c.895+37G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.438,0.000235738,EVS_EA_AF,EPS8L2
211724,11:721730:C>T,NM_022772.3:c.895+39C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,0.658,0.000275179,EXAC_AFR_AF,EPS8L2
211725,11:721731:G>A,NM_022772.3:c.895+40G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.027,0.00120269,EXAC_SAS_AF,EPS8L2
211726,11:721733:G>C,NM_022772.3:c.895+42G>C,\N,\N,10/20,Unknown significance,\N,intron_variant,2.216,\N,\N,EPS8L2
211727,11:721735:C>A,NM_022772.3:c.895+44C>A,\N,\N,10/20,Unknown significance,\N,intron_variant,5.875,0.000290867,EXAC_AFR_AF,EPS8L2
211728,11:721737:A>G,NM_022772.3:c.895+46A>G,\N,\N,10/20,Benign,\N,intron_variant,4.988,0.261636,EVS_AA_AF,EPS8L2
211729,11:721738:G>T,NM_022772.3:c.895+47G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.283,0.00011854,EVS_EA_AF,EPS8L2
211730,11:721739:C>T,NM_022772.3:c.895+48C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.11,0.000235073,EVS_AA_AF,EPS8L2
211731,11:721742:G>T,NM_022772.3:c.895+51G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.177,0.0000748951,EXAC_SAS_AF,EPS8L2
211732,11:721746:AGGGGACAGGGAC>A,NM_022772.3:c.895+62_895+73del,\N,\N,10/20,Unknown significance,\N,intron_variant,6.816,\N,\N,EPS8L2
211733,11:721747:GGGGACA>G,NM_022772.3:c.895+62_895+67del,\N,\N,10/20,Unknown significance,\N,intron_variant,7.358,0.0000222529,EXAC_NFE_AF,EPS8L2
211734,11:721750:G>A,NM_022772.3:c.895+59G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,3.53,0.000188822,EXAC_EAS_AF,EPS8L2
211735,11:721753:A>G,NM_022772.3:c.895+62A>G,\N,\N,10/20,Unknown significance,\N,intron_variant,0.474,0.0000490629,EXAC_NFE_AF,EPS8L2
211736,11:721759:G>A,NM_022772.3:c.895+68G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.862,0.00035461,EXAC_FIN_AF,EPS8L2
211737,11:721762:G>A,NM_022772.3:c.895+71G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,6.664,0.0000283913,EXAC_NFE_AF,EPS8L2
211738,11:721763:A>C,NM_022772.3:c.895+72A>C,\N,\N,10/20,Unknown significance,\N,intron_variant,0.88,0.000244978,EXAC_EAS_AF,EPS8L2
211739,11:721764:C>T,NM_022772.3:c.895+73C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.692,0.0000294516,EXAC_NFE_AF,EPS8L2
211740,11:721765:G>A,NM_022772.3:c.895+74G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,3.832,0.00095057,EXAC_AMR_AF,EPS8L2
211741,11:721765:G>T,NM_022772.3:c.895+74G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,1.462,0.000597134,EXAC_AFR_AF,EPS8L2
211742,11:721766:G>A,NM_022772.3:c.895+75G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.616,\N,\N,EPS8L2
211743,11:721771:A>G,NM_022772.3:c.895+80A>G,\N,\N,10/20,Unknown significance,\N,intron_variant,2.957,0.000090465,EXAC_SAS_AF,EPS8L2
211744,11:721774:G>A,NM_022772.3:c.895+83G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,7.383,\N,\N,EPS8L2
211745,11:721775:A>G,NM_022772.3:c.895+84A>G,\N,\N,10/20,Unknown significance,\N,intron_variant,4.513,0.00029994,EXAC_EAS_AF,EPS8L2
211746,11:721779:C>T,NM_022772.3:c.895+88C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,4.162,\N,\N,EPS8L2
211747,11:721781:A>G,NM_022772.3:c.895+90A>G,\N,\N,10/20,Unknown significance,\N,intron_variant,4.241,\N,\N,EPS8L2
211748,11:721787:G>A,NM_022772.3:c.895+96G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.793,0.000119665,EXAC_NFE_AF,EPS8L2
211749,11:721790:A>C,NM_022772.3:c.895+99A>C,\N,\N,10/20,Unknown significance,\N,intron_variant,2.781,0.0029,1KG_AMR_AF,EPS8L2
211750,11:721795:T>G,NM_022772.3:c.895+104T>G,\N,\N,10/20,Unknown significance,\N,intron_variant,7.961,0.000274273,EXAC_AFR_AF,EPS8L2
211751,11:721804:A>C,NM_022772.3:c.896-99A>C,\N,\N,10/20,Unknown significance,\N,intron_variant,4.149,0.0000513136,EXAC_NFE_AF,EPS8L2
211752,11:721808:AG>A,NM_022772.3:c.896-93del,\N,\N,10/20,Unknown significance,\N,intron_variant,\N,0.000107043,EXAC_SAS_AF,EPS8L2
211753,11:721808:AGGT>A,NM_022772.3:c.896-94_896-92del,\N,\N,10/20,Unknown significance,\N,intron_variant,2.557,0.000301932,EXAC_AFR_AF,EPS8L2
211754,11:721812:C>T,NM_022772.3:c.896-91C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,4.172,\N,\N,EPS8L2
211755,11:721822:C>A,NM_022772.3:c.896-81C>A,\N,\N,10/20,Unknown significance,\N,intron_variant,6.539,0.0000600024,EXAC_NFE_AF,EPS8L2
211756,11:721824:G>T,NM_022772.3:c.896-79G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.016,0.00359712,EXAC_OTH_AF,EPS8L2
211757,11:721825:A>T,NM_022772.3:c.896-78A>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.63,0.00359712,EXAC_OTH_AF,EPS8L2
211758,11:721829:G>T,NM_022772.3:c.896-74G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.949,0.0023,1KG_AFR_AF,EPS8L2
211759,11:721834:G>A,NM_022772.3:c.896-69G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,3.907,0.000113973,EXAC_SAS_AF,EPS8L2
211760,11:721835:TG>T,NM_022772.3:c.896-65del,\N,\N,10/20,Unknown significance,\N,intron_variant,5.094,0.000336474,EXAC_AFR_AF,EPS8L2
211761,11:721842:G>A,NM_022772.3:c.896-61G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,0.299,0.000786164,EXAC_EAS_AF,EPS8L2
211762,11:721847:C>T,NM_022772.3:c.896-56C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,4.861,0.000234028,EXAC_SAS_AF,EPS8L2
211763,11:721848:G>A,NM_022772.3:c.896-55G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,1.423,0.00163934,EXAC_EAS_AF,EPS8L2
211764,11:721856:C>T,NM_022772.3:c.896-47C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,3.104,\N,\N,EPS8L2
211765,11:721857:G>A,NM_022772.3:c.896-46G>A,\N,\N,10/20,Benign,\N,intron_variant,6.408,0.0610561,EXAC_EAS_AF,EPS8L2
211766,11:721860:G>A,NM_022772.3:c.896-43G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.959,0.0000710126,EXAC_NFE_AF,EPS8L2
211767,11:721867:G>A,NM_022772.3:c.896-36G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,9.641,\N,\N,EPS8L2
211768,11:721868:G>A,NM_022772.3:c.896-35G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,9.11,0.000228624,EVS_AA_AF,EPS8L2
211769,11:721869:G>A,NM_022772.3:c.896-34G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,8.002,\N,\N,EPS8L2
211770,11:721873:G>T,NM_022772.3:c.896-30G>T,\N,\N,10/20,Unknown significance,\N,intron_variant,2.757,\N,\N,EPS8L2
211771,11:721877:G>C,NM_022772.3:c.896-26G>C,\N,\N,10/20,Benign,\N,intron_variant,3.362,0.190813,EXAC_AMR_AF,EPS8L2
211772,11:721878:G>A,NM_022772.3:c.896-25G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,4.496,\N,\N,EPS8L2
211773,11:721885:C>T,NM_022772.3:c.896-18C>T,\N,\N,10/20,Unknown significance,\N,intron_variant,6.52,0.000639386,EXAC_EAS_AF,EPS8L2
211774,11:721886:G>A,NM_022772.3:c.896-17G>A,\N,\N,10/20,Unknown significance,\N,intron_variant,7.307,0.000111782,EXAC_SAS_AF,EPS8L2
211775,11:721899:C>G,NM_022772.3:c.896-4C>G,\N,\N,10/20,Unknown significance,\N,splice_region_variant&intron_variant,13.74,0.00131062,EXAC_SAS_AF,EPS8L2
211776,11:721906:G>A,NM_022772.3:c.899G>A,NP_073609.2:p.Gly300Asp,11/21,\N,Unknown significance,\N,missense_variant,28.2,\N,\N,EPS8L2
211777,11:721907:C>T,NM_022772.3:c.900C>T,NP_073609.2:p.Gly300=,11/21,\N,Unknown significance,\N,synonymous_variant,18.15,0.000116442,EVS_EA_AF,EPS8L2
211778,11:721908:G>A,NM_022772.3:c.901G>A,NP_073609.2:p.Val301Ile,11/21,\N,Unknown significance,\N,missense_variant,24.1,0.001,1KG_SAS_AF,EPS8L2
211779,11:721910:C>T,NM_022772.3:c.903C>T,NP_073609.2:p.Val301=,11/21,\N,Unknown significance,\N,synonymous_variant,17,0.0012639,EXAC_AFR_AF,EPS8L2
211780,11:721913:C>T,NM_022772.3:c.906C>T,NP_073609.2:p.Leu302=,11/21,\N,Unknown significance,\N,synonymous_variant,13.55,0.000502008,EXAC_AMR_AF,EPS8L2
211781,11:721916:A>G,NM_022772.3:c.909A>G,NP_073609.2:p.Thr303=,11/21,\N,Unknown significance,\N,synonymous_variant,0.155,0.000243902,EXAC_AFR_AF,EPS8L2
211782,11:721921:G>A,NM_022772.3:c.914G>A,NP_073609.2:p.Arg305Gln,11/21,\N,Unknown significance,\N,missense_variant,34,0.000116442,EVS_EA_AF,EPS8L2
211783,11:721925:A>C,NM_022772.3:c.918A>C,NP_073609.2:p.Ala306=,11/21,\N,Unknown significance,\N,synonymous_variant,0.586,0.000380228,EXAC_EAS_AF,EPS8L2
211784,11:721926:C>T,NM_022772.3:c.919C>T,NP_073609.2:p.Arg307Trp,11/21,\N,Unknown significance,\N,missense_variant,34,0.0000405219,EXAC_NFE_AF,EPS8L2
211785,11:721927:G>A,NM_022772.3:c.920G>A,NP_073609.2:p.Arg307Gln,11/21,\N,Likely benign,\N,missense_variant,23.4,0.00077101,EXAC_AMR_AF,EPS8L2
211786,11:721928:G>A,NM_022772.3:c.921G>A,NP_073609.2:p.Arg307=,11/21,\N,Unknown significance,\N,synonymous_variant,12.84,0.000383436,EXAC_AMR_AF,EPS8L2
211787,11:721929:C>T,NM_022772.3:c.922C>T,NP_073609.2:p.Pro308Ser,11/21,\N,Unknown significance,\N,missense_variant,28.6,0.001,1KG_EAS_AF,EPS8L2
211788,11:721930:C>G,NM_022772.3:c.923C>G,NP_073609.2:p.Pro308Arg,11/21,\N,Unknown significance,\N,missense_variant,23.9,0.0008,1KG_AFR_AF,EPS8L2
211789,11:721930:C>T,NM_022772.3:c.923C>T,NP_073609.2:p.Pro308Leu,11/21,\N,Unknown significance,\N,missense_variant,32,0.0000987947,EXAC_SAS_AF,EPS8L2
211790,11:721931:C>T,NM_022772.3:c.924C>T,NP_073609.2:p.Pro308=,11/21,\N,Benign,\N,synonymous_variant,17.29,0.299964,EXAC_AFR_AF,EPS8L2
211791,11:721933:C>A,NM_022772.3:c.926C>A,NP_073609.2:p.Pro309His,11/21,\N,Unknown significance,\N,missense_variant,27.6,0.00126502,EXAC_EAS_AF,EPS8L2
211792,11:721937:T>C,NM_022772.3:c.930T>C,NP_073609.2:p.Ser310=,11/21,\N,Unknown significance,\N,synonymous_variant,2.819,\N,\N,EPS8L2
211793,11:721941:G>T,NM_022772.3:c.934G>T,NP_073609.2:p.Gly312Cys,11/21,\N,Unknown significance,\N,missense_variant,23.1,0.0000640082,EXAC_NFE_AF,EPS8L2
211794,11:721942:G>A,NM_022772.3:c.935G>A,NP_073609.2:p.Gly312Asp,11/21,\N,Likely benign,\N,missense_variant,2.604,0.0008,1KG_AFR_AF,EPS8L2
211795,11:721944:G>A,NM_022772.3:c.937G>A,NP_073609.2:p.Glu313Lys,11/21,\N,Unknown significance,\N,missense_variant,24.2,0.000276549,EXAC_AMR_AF,EPS8L2
211796,11:721952:C>T,NM_022772.3:c.945C>T,NP_073609.2:p.Ile315=,11/21,\N,Unknown significance,\N,synonymous_variant,12.9,0.000259605,EXAC_AMR_AF,EPS8L2
211797,11:721953:G>A,NM_022772.3:c.946G>A,NP_073609.2:p.Asp316Asn,11/21,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,EPS8L2
211798,11:721968:A>G,NM_022772.3:c.961A>G,NP_073609.2:p.Ile321Val,11/21,\N,Likely benign,\N,missense_variant,0.938,0.000349243,EVS_EA_AF,EPS8L2
211799,11:721974:C>T,NM_022772.3:c.967C>T,NP_073609.2:p.Leu323=,11/21,\N,Unknown significance,\N,synonymous_variant,9.496,0.000116442,EVS_EA_AF,EPS8L2
211800,11:721975:T>C,NM_022772.3:c.968T>C,NP_073609.2:p.Leu323Pro,11/21,\N,Unknown significance,\N,missense_variant,22.7,0.0000866852,EXAC_SAS_AF,EPS8L2
211801,11:721985:C>T,NM_022772.3:c.978C>T,NP_073609.2:p.Asn326=,11/21,\N,Unknown significance,\N,synonymous_variant,9.743,0.0014,1KG_AMR_AF,EPS8L2
211802,11:721986:T>C,NM_022772.3:c.979T>C,NP_073609.2:p.Leu327=,11/21,\N,Unknown significance,\N,synonymous_variant,0.119,0.000084832,EXAC_SAS_AF,EPS8L2
211803,11:721990:T>A,NM_022772.3:c.983T>A,NP_073609.2:p.Leu328Gln,11/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.8,0.0000840619,EXAC_SAS_AF,EPS8L2
211804,11:721994:G>A,NM_022772.3:c.984+3G>A,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,10.02,0.000946253,EXAC_AMR_AF,EPS8L2
211805,11:721996:G>A,NM_022772.3:c.984+5G>A,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,11.45,0.0000259014,EXAC_NFE_AF,EPS8L2
211806,11:721999:C>A,NM_022772.3:c.984+8C>A,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,7.96,0.000227894,EVS_AA_AF,EPS8L2
211807,11:722000:G>A,NM_022772.3:c.984+9G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,2.85,0.00107805,EXAC_EAS_AF,EPS8L2
211808,11:722001:G>C,NM_022772.3:c.984+10G>C,\N,\N,11/20,Unknown significance,\N,intron_variant,2.535,0.000210526,EXAC_EAS_AF,EPS8L2
211809,11:722008:C>G,NM_022772.3:c.984+17C>G,\N,\N,11/20,Unknown significance,\N,intron_variant,4.989,\N,\N,EPS8L2
211810,11:722009:A>G,NM_022772.3:c.984+18A>G,\N,\N,11/20,Unknown significance,\N,intron_variant,3.302,0.000116496,EVS_EA_AF,EPS8L2
211811,11:722015:G>A,NM_022772.3:c.984+24G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,3.967,0.0000236451,EXAC_NFE_AF,EPS8L2
211812,11:722022:T>C,NM_022772.3:c.984+31T>C,\N,\N,11/20,Unknown significance,\N,intron_variant,1.025,0.0000766636,EXAC_SAS_AF,EPS8L2
211813,11:722026:T>G,NM_022772.3:c.984+35T>G,\N,\N,11/20,Unknown significance,\N,intron_variant,4.671,0.001,1KG_EUR_AF,EPS8L2
211814,11:722027:G>C,NM_022772.3:c.984+36G>C,\N,\N,11/20,Unknown significance,\N,intron_variant,3.501,0.0000225114,EXAC_NFE_AF,EPS8L2
211815,11:722036:G>A,NM_022772.3:c.984+45G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,2.503,0.000141084,EXAC_AFR_AF,EPS8L2
211816,11:722041:G>A,NM_022772.3:c.984+50G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,6.277,0.000123609,EXAC_AMR_AF,EPS8L2
211817,11:722046:G>GGCCCC,NM_022772.3:c.985-33_985-29dup,\N,\N,11/20,Unknown significance,\N,intron_variant,4.563,0.0000206084,EXAC_NFE_AF,EPS8L2
211818,11:722046:G>GGCCCCGCCCC,NM_022772.3:c.985-38_985-29dup,\N,\N,11/20,Unknown significance,\N,intron_variant,\N,0.0000206084,EXAC_NFE_AF,EPS8L2
211819,11:722046:GGCCCC>G,NM_022772.3:c.985-33_985-29del,\N,\N,11/20,Unknown significance,\N,intron_variant,8.634,0.000155424,EXAC_EAS_AF,EPS8L2
211820,11:722048:C>T,NM_022772.3:c.985-43C>T,\N,\N,11/20,Unknown significance,\N,intron_variant,9.041,0.000119674,EXAC_AMR_AF,EPS8L2
211821,11:722049:C>A,NM_022772.3:c.985-42C>A,\N,\N,11/20,Unknown significance,\N,intron_variant,9.976,0.0000408847,EXAC_NFE_AF,EPS8L2
211822,11:722052:G>A,NM_022772.3:c.985-39G>A,\N,\N,11/20,Benign,\N,intron_variant,6.925,0.0489796,EXAC_EAS_AF,EPS8L2
211823,11:722056:C>T,NM_022772.3:c.985-35C>T,\N,\N,11/20,Unknown significance,\N,intron_variant,9.46,0.000129971,EXAC_AFR_AF,EPS8L2
211824,11:722057:G>A,NM_022772.3:c.985-34G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,5.356,0.0014,1KG_AMR_AF,EPS8L2
211825,11:722057:G>T,NM_022772.3:c.985-34G>T,\N,\N,11/20,Benign,\N,intron_variant,3.43,0.00955056,EXAC_EAS_AF,EPS8L2
211826,11:722061:C>A,NM_022772.3:c.985-30C>A,\N,\N,11/20,Unknown significance,\N,intron_variant,7.982,0.0000180976,EXAC_NFE_AF,EPS8L2
211827,11:722061:C>G,NM_022772.3:c.985-30C>G,\N,\N,11/20,Unknown significance,\N,intron_variant,6.309,0.000248571,EXAC_AFR_AF,EPS8L2
211828,11:722061:C>T,NM_022772.3:c.985-30C>T,\N,\N,11/20,Unknown significance,\N,intron_variant,7.051,0.000134735,EXAC_SAS_AF,EPS8L2
211829,11:722062:G>A,NM_022772.3:c.985-29G>A,\N,\N,11/20,Unknown significance,\N,intron_variant,4.013,0.000116496,EVS_EA_AF,EPS8L2
211830,11:722067:C>T,NM_022772.3:c.985-24C>T,\N,\N,11/20,Unknown significance,\N,intron_variant,8.375,0.0000654193,EXAC_SAS_AF,EPS8L2
211831,11:722069:G>C,NM_022772.3:c.985-22G>C,\N,\N,11/20,Unknown significance,\N,intron_variant,3.242,0.001,1KG_EUR_AF,EPS8L2
211832,11:722074:C>G,NM_022772.3:c.985-17C>G,\N,\N,11/20,Unknown significance,\N,intron_variant,6.297,0.0000166889,EXAC_NFE_AF,EPS8L2
211833,11:722076:T>C,NM_022772.3:c.985-15T>C,\N,\N,11/20,Unknown significance,\N,intron_variant,0.324,0.0000635082,EXAC_SAS_AF,EPS8L2
211834,11:722077:G>C,NM_022772.3:c.985-14G>C,\N,\N,11/20,Unknown significance,\N,intron_variant,1.88,0.000224568,EXAC_AFR_AF,EPS8L2
211835,11:722077:G>T,NM_022772.3:c.985-14G>T,\N,\N,11/20,Unknown significance,\N,intron_variant,3.072,0.0008,1KG_AFR_AF,EPS8L2
211836,11:722080:C>G,NM_022772.3:c.985-11C>G,\N,\N,11/20,Unknown significance,\N,intron_variant,4.69,0.0000163902,EXAC_NFE_AF,EPS8L2
211837,11:722083:A>AC,NM_022772.3:c.985-3dup,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,8.062,0.000110571,EXAC_AFR_AF,EPS8L2
211838,11:722085:C>T,NM_022772.3:c.985-6C>T,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,10.23,0.001,1KG_EUR_AF,EPS8L2
211839,11:722087:C>G,NM_022772.3:c.985-4C>G,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,7.673,0.00121951,EXAC_OTH_AF,EPS8L2
211840,11:722087:C>T,NM_022772.3:c.985-4C>T,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,9.484,0.0000161259,EXAC_NFE_AF,EPS8L2
211841,11:722088:C>T,NM_022772.3:c.985-3C>T,\N,\N,11/20,Unknown significance,\N,splice_region_variant&intron_variant,13.82,0.001,1KG_EUR_AF,EPS8L2
211842,11:722096:G>C,NM_022772.3:c.990G>C,NP_073609.2:p.Lys330Asn,12/21,\N,Unknown significance,\N,missense_variant,27.3,0.0000616827,EXAC_SAS_AF,EPS8L2
211843,11:722097:C>T,NM_022772.3:c.991C>T,NP_073609.2:p.Leu331=,12/21,\N,Unknown significance,\N,synonymous_variant,12.76,0.0000892379,EXAC_AMR_AF,EPS8L2
211844,11:722108:C>T,NM_022772.3:c.1002C>T,NP_073609.2:p.His334=,12/21,\N,Unknown significance,\N,synonymous_variant,12.37,0.0000158363,EXAC_NFE_AF,EPS8L2
211845,11:722109:A>C,NM_022772.3:c.1003A>C,NP_073609.2:p.Ile335Leu,12/21,\N,Unknown significance,\N,missense_variant,23.2,0.0000158313,EXAC_NFE_AF,EPS8L2
211846,11:722113:A>G,NM_022772.3:c.1007A>G,NP_073609.2:p.Gln336Arg,12/21,\N,Unknown significance,\N,missense_variant,25.5,0.0000158398,EXAC_NFE_AF,EPS8L2
211847,11:722117:C>T,NM_022772.3:c.1011C>T,NP_073609.2:p.Asn337=,12/21,\N,Unknown significance,\N,synonymous_variant,12.74,0.0000613874,EXAC_SAS_AF,EPS8L2
211848,11:722122:G>C,NM_022772.3:c.1016G>C,NP_073609.2:p.Ser339Thr,12/21,\N,Unknown significance,\N,missense_variant,23.2,0.000118427,EXAC_EAS_AF,EPS8L2
211849,11:722123:C>A,NM_022772.3:c.1017C>A,NP_073609.2:p.Ser339Arg,12/21,\N,Unknown significance,\N,missense_variant,26.2,0.000116279,EVS_EA_AF,EPS8L2
211850,11:722123:C>T,NM_022772.3:c.1017C>T,NP_073609.2:p.Ser339=,12/21,\N,Unknown significance,\N,synonymous_variant,16.29,0.000212947,EXAC_AFR_AF,EPS8L2
211851,11:722125:C>T,NM_022772.3:c.1019C>T,NP_073609.2:p.Ala340Val,12/21,\N,Unknown significance,\N,missense_variant,28,0.0031,1KG_SAS_AF,EPS8L2
211852,11:722126:C>T,NM_022772.3:c.1020C>T,NP_073609.2:p.Ala340=,12/21,\N,Unknown significance,\N,synonymous_variant,11.43,0.000106746,EXAC_AFR_AF,EPS8L2
211853,11:722127:G>A,NM_022772.3:c.1021G>A,NP_073609.2:p.Ala341Thr,12/21,\N,Likely benign,\N,missense_variant,23.4,0.0000887311,EXAC_AMR_AF,EPS8L2
211854,11:722127:G>T,NM_022772.3:c.1021G>T,NP_073609.2:p.Ala341Ser,12/21,\N,Likely benign,\N,missense_variant,11.25,0.0000158962,EXAC_NFE_AF,EPS8L2
211855,11:722128:C>T,NM_022772.3:c.1022C>T,NP_073609.2:p.Ala341Val,12/21,\N,Likely benign,\N,missense_variant,24.2,0.000321647,EXAC_FIN_AF,EPS8L2
211856,11:722129:G>A,NM_022772.3:c.1023G>A,NP_073609.2:p.Ala341=,12/21,\N,Unknown significance,\N,synonymous_variant,12.49,0.000355534,EXAC_EAS_AF,EPS8L2
211857,11:722130:G>A,NM_022772.3:c.1024G>A,NP_073609.2:p.Glu342Lys,12/21,\N,Unknown significance,\N,missense_variant,29.1,0.0000159114,EXAC_NFE_AF,EPS8L2
211858,11:722132:G>A,NM_022772.3:c.1026G>A,NP_073609.2:p.Glu342=,12/21,\N,Unknown significance,\N,synonymous_variant,10.55,0.0000159291,EXAC_NFE_AF,EPS8L2
211859,11:722141:C>G,NM_022772.3:c.1035C>G,NP_073609.2:p.His345Gln,12/21,\N,Unknown significance,\N,missense_variant,27.9,\N,\N,EPS8L2
211860,11:722144:C>T,NM_022772.3:c.1038C>T,NP_073609.2:p.Phe346=,12/21,\N,Unknown significance,\N,synonymous_variant,16.66,0.002,1KG_EAS_AF,EPS8L2
211861,11:722150:C>G,NM_022772.3:c.1044C>G,NP_073609.2:p.Phe348Leu,12/21,\N,Unknown significance,\N,missense_variant,33,0.000119875,EXAC_EAS_AF,EPS8L2
211862,11:722150:C>T,NM_022772.3:c.1044C>T,NP_073609.2:p.Phe348=,12/21,\N,Unknown significance,\N,synonymous_variant,20.4,0.0008,1KG_AFR_AF,EPS8L2
211863,11:722151:G>A,NM_022772.3:c.1045G>A,NP_073609.2:p.Gly349Arg,12/21,\N,Unknown significance,\N,missense_variant,32,0.000120019,EXAC_EAS_AF,EPS8L2
211864,11:722151:G>C,NM_022772.3:c.1045G>C,NP_073609.2:p.Gly349Arg,12/21,\N,Unknown significance,\N,missense_variant,31,0.001,1KG_SAS_AF,EPS8L2
211865,11:722156:T>C,NM_022772.3:c.1050T>C,NP_073609.2:p.Pro350=,12/21,\N,Unknown significance,\N,synonymous_variant,5.227,0.0000623364,EXAC_SAS_AF,EPS8L2
211866,11:722160:G>C,NM_022772.3:c.1054G>C,NP_073609.2:p.Asp352His,12/21,\N,Unknown significance,\N,missense_variant,24.4,0.0015,1KG_AFR_AF,EPS8L2
211867,11:722168:G>A,NM_022772.3:c.1059+3G>A,\N,\N,12/20,Unknown significance,\N,splice_region_variant&intron_variant,14.87,0.0000629406,EXAC_SAS_AF,EPS8L2
211868,11:722174:G>T,NM_022772.3:c.1059+9G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,13.23,0.000126358,EXAC_EAS_AF,EPS8L2
211869,11:722178:G>A,NM_022772.3:c.1059+13G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,10.46,0.000255689,EXAC_SAS_AF,EPS8L2
211870,11:722178:G>C,NM_022772.3:c.1059+13G>C,\N,\N,12/20,Unknown significance,\N,intron_variant,8.805,0.000258598,EXAC_EAS_AF,EPS8L2
211871,11:722182:G>A,NM_022772.3:c.1059+17G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,6.877,0.001,1KG_EAS_AF,EPS8L2
211872,11:722186:G>A,NM_022772.3:c.1059+21G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,8.411,0.0000360218,EXAC_NFE_AF,EPS8L2
211873,11:722189:G>A,NM_022772.3:c.1059+24G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,7.212,0.00012875,EXAC_SAS_AF,EPS8L2
211874,11:722189:G>T,NM_022772.3:c.1059+24G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,5.686,0.0000180213,EXAC_NFE_AF,EPS8L2
211875,11:722191:G>A,NM_022772.3:c.1059+26G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,5.474,0.0000985222,EXAC_AMR_AF,EPS8L2
211876,11:722191:G>T,NM_022772.3:c.1059+26G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,3.604,0.0000647501,EXAC_SAS_AF,EPS8L2
211877,11:722192:C>T,NM_022772.3:c.1059+27C>T,\N,\N,12/20,Unknown significance,\N,intron_variant,2.321,0.0000647333,EXAC_SAS_AF,EPS8L2
211878,11:722193:G>A,NM_022772.3:c.1059+28G>A,\N,\N,12/20,Benign,\N,intron_variant,7.759,0.0954594,EXAC_AFR_AF,EPS8L2
211879,11:722196:G>A,NM_022772.3:c.1059+31G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,7.996,0.000134807,EXAC_EAS_AF,EPS8L2
211880,11:722197:G>T,NM_022772.3:c.1059+32G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,4.576,0.0000184339,EXAC_NFE_AF,EPS8L2
211881,11:722198:G>A,NM_022772.3:c.1059+33G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,7.105,0.000194881,EXAC_SAS_AF,EPS8L2
211882,11:722202:G>C,NM_022772.3:c.1059+37G>C,\N,\N,12/20,Benign,\N,intron_variant,3.707,0.4455,1KG_AFR_AF,EPS8L2
211883,11:722209:G>A,NM_022772.3:c.1059+44G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,6.902,0.0000192315,EXAC_NFE_AF,EPS8L2
211884,11:722212:G>A,NM_022772.3:c.1059+47G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,8.247,0.000285307,EXAC_AFR_AF,EPS8L2
211885,11:722217:T>C,NM_022772.3:c.1059+52T>C,\N,\N,12/20,Unknown significance,\N,intron_variant,0.438,0.0000669882,EXAC_SAS_AF,EPS8L2
211886,11:722231:G>A,NM_022772.3:c.1059+66G>A,\N,\N,12/20,Benign,\N,intron_variant,5.36,0.0051,1KG_SAS_AF,EPS8L2
211887,11:722293:T>C,NM_022772.3:c.1060-108T>C,\N,\N,12/20,Unknown significance,\N,intron_variant,0.601,\N,\N,EPS8L2
211888,11:722300:G>A,NM_022772.3:c.1060-101G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,6.283,\N,\N,EPS8L2
211889,11:722303:G>A,NM_022772.3:c.1060-98G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,4.146,0.002,1KG_SAS_AF,EPS8L2
211890,11:722319:C>T,NM_022772.3:c.1060-82C>T,\N,\N,12/20,Unknown significance,\N,intron_variant,3.545,\N,\N,EPS8L2
211891,11:722346:G>T,NM_022772.3:c.1060-55G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,8.132,0.0023,1KG_AFR_AF,EPS8L2
211892,11:722350:T>C,NM_022772.3:c.1060-51T>C,\N,\N,12/20,Unknown significance,\N,intron_variant,1.61,0.00114155,EXAC_OTH_AF,EPS8L2
211893,11:722358:G>T,NM_022772.3:c.1060-43G>T,\N,\N,12/20,Unknown significance,\N,intron_variant,3.571,0.0000152704,EXAC_NFE_AF,EPS8L2
211894,11:722365:G>A,NM_022772.3:c.1060-36G>A,\N,\N,12/20,Unknown significance,\N,intron_variant,4.477,0.0000638325,EXAC_SAS_AF,EPS8L2
211895,11:722368:C>T,NM_022772.3:c.1060-33C>T,\N,\N,12/20,Benign,\N,intron_variant,5.403,0.005,1KG_EUR_AF,EPS8L2
211896,11:722376:C>A,NM_022772.3:c.1060-25C>A,\N,\N,12/20,Unknown significance,\N,intron_variant,7.575,\N,\N,EPS8L2
211897,11:722376:C>T,NM_022772.3:c.1060-25C>T,\N,\N,12/20,Unknown significance,\N,intron_variant,7.786,\N,\N,EPS8L2
211898,11:722382:G>C,NM_022772.3:c.1060-19G>C,\N,\N,12/20,Unknown significance,\N,intron_variant,7.845,0.0000968054,EXAC_AFR_AF,EPS8L2
211899,11:722384:A>C,NM_022772.3:c.1060-17A>C,\N,\N,12/20,Unknown significance,\N,intron_variant,5.618,\N,\N,EPS8L2
211900,11:722385:C>T,NM_022772.3:c.1060-16C>T,\N,\N,12/20,Unknown significance,\N,intron_variant,6.068,0.0000152212,EXAC_NFE_AF,EPS8L2
211901,11:722385:CCTCA>C,NM_022772.3:c.1060-13_1060-10del,\N,\N,12/20,Unknown significance,\N,intron_variant,9.286,0.002,1KG_EAS_AF,EPS8L2
211902,11:722386:C>T,NM_022772.3:c.1060-15C>T,\N,\N,12/20,Unknown significance,\N,intron_variant,8.376,0.000076085,EXAC_NFE_AF,EPS8L2
211903,11:722395:C>T,NM_022772.3:c.1060-6C>T,\N,\N,12/20,Unknown significance,\N,splice_region_variant&intron_variant,8.176,0.0023,1KG_AFR_AF,EPS8L2
211904,11:722397:C>G,NM_022772.3:c.1060-4C>G,\N,\N,12/20,Unknown significance,\N,splice_region_variant&intron_variant,8.12,0.000115902,EXAC_EAS_AF,EPS8L2
211905,11:722402:T>C,NM_022772.3:c.1061T>C,NP_073609.2:p.Ile354Thr,13/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.2,0.000290192,EXAC_AFR_AF,EPS8L2
211906,11:722403:C>T,NM_022772.3:c.1062C>T,NP_073609.2:p.Ile354=,13/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.8,0.0000151893,EXAC_NFE_AF,EPS8L2
211907,11:722404:G>A,NM_022772.3:c.1063G>A,NP_073609.2:p.Val355Ile,13/21,\N,Likely benign,\N,missense_variant,9.273,0.000115902,EXAC_EAS_AF,EPS8L2
211908,11:722405:T>G,NM_022772.3:c.1064T>G,NP_073609.2:p.Val355Gly,13/21,\N,Unknown significance,\N,missense_variant,24.4,0.000259785,EXAC_AMR_AF,EPS8L2
211909,11:722406:C>T,NM_022772.3:c.1065C>T,NP_073609.2:p.Val355=,13/21,\N,Unknown significance,\N,synonymous_variant,9.913,0.000226963,EVS_AA_AF,EPS8L2
211910,11:722411:C>CCTG,NM_022772.3:c.1072_1074dup,NP_073609.2:p.Cys358dup,13/21,\N,Unknown significance,\N,inframe_insertion,15.75,0.000895269,EXAC_NFE_AF,EPS8L2
211911,11:722413:T>C,NM_022772.3:c.1072T>C,NP_073609.2:p.Cys358Arg,13/21,\N,Unknown significance,\N,missense_variant,25.1,0.000288263,EXAC_NFE_AF,EPS8L2
211912,11:722414:G>A,NM_022772.3:c.1073G>A,NP_073609.2:p.Cys358Tyr,13/21,\N,Unknown significance,\N,missense_variant,25.2,0.001,1KG_EUR_AF,EPS8L2
211913,11:722418:T>C,NM_022772.3:c.1077T>C,NP_073609.2:p.Ser359=,13/21,\N,Unknown significance,\N,synonymous_variant,5.442,\N,\N,EPS8L2
211914,11:722420:G>A,NM_022772.3:c.1079G>A,NP_073609.2:p.Gly360Asp,13/21,\N,Unknown significance,\N,missense_variant,27.3,0.000115929,EXAC_EAS_AF,EPS8L2
211915,11:722423:C>T,NM_022772.3:c.1082C>T,NP_073609.2:p.Pro361Leu,13/21,\N,Unknown significance,\N,missense_variant,28.5,0.000121227,EXAC_SAS_AF,EPS8L2
211916,11:722426:A>C,NM_022772.3:c.1085A>C,NP_073609.2:p.Asp362Ala,13/21,\N,Unknown significance,\N,missense_variant,22.9,0.0000303352,EXAC_NFE_AF,EPS8L2
211917,11:722427:C>T,NM_022772.3:c.1086C>T,NP_073609.2:p.Asp362=,13/21,\N,Unknown significance,\N,synonymous_variant,12.62,0.001,1KG_EUR_AF,EPS8L2
211918,11:722430:C>A,NM_022772.3:c.1089C>A,NP_073609.2:p.Ile363=,13/21,\N,Unknown significance,\N,synonymous_variant,21.2,0.0000151662,EXAC_NFE_AF,EPS8L2
211919,11:722430:C>T,NM_022772.3:c.1089C>T,NP_073609.2:p.Ile363=,13/21,\N,Unknown significance,\N,synonymous_variant,16.6,0.000115902,EXAC_EAS_AF,EPS8L2
211920,11:722431:G>A,NM_022772.3:c.1090G>A,NP_073609.2:p.Ala364Thr,13/21,\N,Unknown significance,\N,missense_variant,25.8,0.000347705,EXAC_EAS_AF,EPS8L2
211921,11:722434:C>T,NM_022772.3:c.1093C>T,NP_073609.2:p.Arg365Cys,13/21,\N,Unknown significance,\N,missense_variant,24,0.000121212,EXAC_SAS_AF,EPS8L2
211922,11:722435:G>A,NM_022772.3:c.1094G>A,NP_073609.2:p.Arg365His,13/21,\N,Unknown significance,\N,missense_variant,23.9,0.0000303297,EXAC_NFE_AF,EPS8L2
211923,11:722439:C>T,NM_022772.3:c.1098C>T,NP_073609.2:p.Ser366=,13/21,\N,Unknown significance,\N,synonymous_variant,13.32,0.002,1KG_EAS_AF,EPS8L2
211924,11:722440:G>A,NM_022772.3:c.1099G>A,NP_073609.2:p.Val367Ile,13/21,\N,Likely benign,\N,missense_variant,13.34,0.00068089,EVS_AA_AF,EPS8L2
211925,11:722442:C>T,NM_022772.3:c.1101C>T,NP_073609.2:p.Val367=,13/21,\N,Unknown significance,\N,synonymous_variant,14.76,0.0000968617,EXAC_AFR_AF,EPS8L2
211926,11:722445:C>T,NM_022772.3:c.1104C>T,NP_073609.2:p.Ser368=,13/21,\N,Unknown significance,\N,synonymous_variant,16.11,0.000226963,EVS_AA_AF,EPS8L2
211927,11:722446:T>G,NM_022772.3:c.1105T>G,NP_073609.2:p.Cys369Gly,13/21,\N,Likely benign,\N,missense_variant,11.97,0.000116279,EVS_EA_AF,EPS8L2
211928,11:722449:C>A,NM_022772.3:c.1108C>A,NP_073609.2:p.Pro370Thr,13/21,\N,Unknown significance,\N,missense_variant,27.8,0.0000151676,EXAC_NFE_AF,EPS8L2
211929,11:722450:C>T,NM_022772.3:c.1109C>T,NP_073609.2:p.Pro370Leu,13/21,\N,Unknown significance,\N,missense_variant,28.3,0.0000303343,EXAC_NFE_AF,EPS8L2
211930,11:722455:C>T,NM_022772.3:c.1114C>T,NP_073609.2:p.Leu372Phe,13/21,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,EPS8L2
211931,11:722461:C>T,NM_022772.3:c.1120C>T,NP_073609.2:p.Arg374Ter,13/21,\N,Unknown significance,\N,stop_gained,36,0.0000606355,EXAC_SAS_AF,EPS8L2
211932,11:722462:G>A,NM_022772.3:c.1121G>A,NP_073609.2:p.Arg374Gln,13/21,\N,Likely benign,\N,missense_variant,17.33,0.000226963,EVS_AA_AF,EPS8L2
211933,11:722462:G>T,NM_022772.3:c.1121G>T,NP_073609.2:p.Arg374Leu,13/21,\N,Likely benign,\N,missense_variant,16.71,0.0000606208,EXAC_SAS_AF,EPS8L2
211934,11:722469:C>G,NM_022772.3:c.1128C>G,NP_073609.2:p.Ala376=,13/21,\N,Unknown significance,\N,synonymous_variant,16.06,0.0000606208,EXAC_SAS_AF,EPS8L2
211935,11:722469:C>T,NM_022772.3:c.1128C>T,NP_073609.2:p.Ala376=,13/21,\N,Unknown significance,\N,synonymous_variant,19.42,0.000231911,EXAC_EAS_AF,EPS8L2
211936,11:722470:G>A,NM_022772.3:c.1129G>A,NP_073609.2:p.Val377Met,13/21,\N,Unknown significance,\N,missense_variant,26.5,0.000173521,EXAC_AMR_AF,EPS8L2
211937,11:722478:C>A,NM_022772.3:c.1137C>A,NP_073609.2:p.Phe379Leu,13/21,\N,Unknown significance,\N,missense_variant,24.6,0.0000606502,EXAC_SAS_AF,EPS8L2
211938,11:722478:C>T,NM_022772.3:c.1137C>T,NP_073609.2:p.Phe379=,13/21,\N,Unknown significance,\N,synonymous_variant,15.67,0.0000606502,EXAC_SAS_AF,EPS8L2
211939,11:722479:C>T,NM_022772.3:c.1138C>T,NP_073609.2:p.Leu380=,13/21,\N,Unknown significance,\N,synonymous_variant,15.9,0.000116009,EXAC_EAS_AF,EPS8L2
211940,11:722480:T>C,NM_022772.3:c.1139T>C,NP_073609.2:p.Leu380Pro,13/21,\N,Unknown significance,\N,missense_variant,27.3,0.000116279,EVS_EA_AF,EPS8L2
211941,11:722482:C>T,NM_022772.3:c.1141C>T,NP_073609.2:p.Arg381Cys,13/21,\N,Unknown significance,\N,missense_variant,33,0.000463929,EXAC_EAS_AF,EPS8L2
211942,11:722483:G>A,NM_022772.3:c.1142G>A,NP_073609.2:p.Arg381His,13/21,\N,Likely benign,\N,missense_variant,22.5,0.0000606502,EXAC_SAS_AF,EPS8L2
211943,11:722484:C>T,NM_022772.3:c.1143C>T,NP_073609.2:p.Arg381=,13/21,\N,Unknown significance,\N,synonymous_variant,18.11,0.0014,1KG_AMR_AF,EPS8L2
211944,11:722485:G>A,NM_022772.3:c.1144G>A,NP_073609.2:p.Gly382Ser,13/21,\N,Unknown significance,\N,missense_variant,25.6,0.0000152091,EXAC_NFE_AF,EPS8L2
211945,11:722485:G>T,NM_022772.3:c.1144G>T,NP_073609.2:p.Gly382Cys,13/21,\N,Unknown significance,\N,missense_variant,26.1,0.0000152091,EXAC_NFE_AF,EPS8L2
211946,11:722496:C>T,NM_022772.3:c.1155C>T,NP_073609.2:p.Val385=,13/21,\N,Unknown significance,\N,synonymous_variant,16.99,0.0000304395,EXAC_NFE_AF,EPS8L2
211947,11:722499:T>C,NM_022772.3:c.1158T>C,NP_073609.2:p.Pro386=,13/21,\N,Unknown significance,\N,synonymous_variant,6.894,0.0000606502,EXAC_SAS_AF,EPS8L2
211948,11:722510:C>T,NM_022772.3:c.1169C>T,NP_073609.2:p.Ser390Leu,13/21,\N,Likely benign,\N,missense_variant,22.8,0.0000978474,EXAC_AFR_AF,EPS8L2
211949,11:722511:G>A,NM_022772.3:c.1170G>A,NP_073609.2:p.Ser390=,13/21,\N,Unknown significance,\N,synonymous_variant,11.71,0.001,1KG_SAS_AF,EPS8L2
211950,11:722524:CTG>C,NM_022772.3:c.1184_1185del,NP_073609.2:p.Leu395ArgfsTer107,13/21,\N,Unknown significance,\N,frameshift_variant,28.9,0.0000873668,EXAC_AMR_AF,EPS8L2
211951,11:722525:T>C,NM_022772.3:c.1184T>C,NP_073609.2:p.Leu395Pro,13/21,\N,Unknown significance,\N,missense_variant,24.8,0.000116333,EXAC_EAS_AF,EPS8L2
211952,11:722526:G>A,NM_022772.3:c.1185G>A,NP_073609.2:p.Leu395=,13/21,\N,Unknown significance,\N,synonymous_variant,5.382,0.000116279,EVS_EA_AF,EPS8L2
211953,11:722532:G>C,NM_022772.3:c.1191G>C,NP_073609.2:p.Glu397Asp,13/21,\N,Likely benign,\N,missense_variant,0.112,0.0000614175,EXAC_NFE_AF,EPS8L2
211954,11:722537:G>C,NM_022772.3:c.1196G>C,NP_073609.2:p.Trp399Ser,13/21,\N,Unknown significance,\N,missense_variant,25.4,0.000116279,EVS_EA_AF,EPS8L2
211955,11:722542:C>T,NM_022772.3:c.1201C>T,NP_073609.2:p.Arg401Trp,13/21,\N,Unknown significance,\N,missense_variant,27.7,0.000233699,EXAC_EAS_AF,EPS8L2
211956,11:722543:G>A,NM_022772.3:c.1202G>A,NP_073609.2:p.Arg401Gln,13/21,\N,Unknown significance,\N,missense_variant,23.8,0.000453926,EVS_AA_AF,EPS8L2
211957,11:722548:C>G,NM_022772.3:c.1207C>G,NP_073609.2:p.Arg403Gly,13/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,24,\N,\N,EPS8L2
211958,11:722548:C>T,NM_022772.3:c.1207C>T,NP_073609.2:p.Arg403Cys,13/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.6,0.000117206,EXAC_EAS_AF,EPS8L2
211959,11:722549:G>A,NM_022772.3:c.1208G>A,NP_073609.2:p.Arg403His,13/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.3,0.0000884017,EXAC_AMR_AF,EPS8L2
211960,11:722551:T>TAGGGC,NM_022772.3:c.1208+10_1208+14dup,\N,\N,13/20,Unknown significance,\N,splice_region_variant&intron_variant,3.565,0.000117454,EXAC_EAS_AF,EPS8L2
211961,11:722567:A>C,NM_022772.3:c.1208+18A>C,\N,\N,13/20,Unknown significance,\N,intron_variant,0.369,0.000226963,EVS_AA_AF,EPS8L2
211962,11:722569:T>C,NM_022772.3:c.1208+20T>C,\N,\N,13/20,Unknown significance,\N,intron_variant,1.109,0.00314388,EXAC_SAS_AF,EPS8L2
211963,11:722570:G>A,NM_022772.3:c.1208+21G>A,\N,\N,13/20,Unknown significance,\N,intron_variant,4.985,0.0000616371,EXAC_SAS_AF,EPS8L2
211964,11:722570:G>C,NM_022772.3:c.1208+21G>C,\N,\N,13/20,Unknown significance,\N,intron_variant,1.411,0.0000158569,EXAC_NFE_AF,EPS8L2
211965,11:722572:C>A,NM_022772.3:c.1208+23C>A,\N,\N,13/20,Unknown significance,\N,intron_variant,1.611,0.000118878,EXAC_EAS_AF,EPS8L2
211966,11:722572:C>G,NM_022772.3:c.1208+23C>G,\N,\N,13/20,Unknown significance,\N,intron_variant,0.822,0.000106542,EXAC_AFR_AF,EPS8L2
211967,11:722572:C>T,NM_022772.3:c.1208+23C>T,\N,\N,13/20,Unknown significance,\N,intron_variant,1.602,0.000453926,EVS_AA_AF,EPS8L2
211968,11:722573:G>A,NM_022772.3:c.1208+24G>A,\N,\N,13/20,Unknown significance,\N,intron_variant,4.152,0.000453926,EVS_AA_AF,EPS8L2
211969,11:722579:T>C,NM_022772.3:c.1208+30T>C,\N,\N,13/20,Unknown significance,\N,intron_variant,0.531,0.000119161,EXAC_EAS_AF,EPS8L2
211970,11:722580:C>A,NM_022772.3:c.1208+31C>A,\N,\N,13/20,Unknown significance,\N,intron_variant,4.292,0.000327941,EXAC_AFR_AF,EPS8L2
211971,11:722583:G>T,NM_022772.3:c.1208+34G>T,\N,\N,13/20,Unknown significance,\N,intron_variant,0.136,\N,\N,EPS8L2
211972,11:722583:GGGGGGCCAGCGCTGCAT>G,NM_022772.3:c.1208+45_1208+61del,\N,\N,13/20,Unknown significance,\N,intron_variant,4.087,\N,\N,EPS8L2
211973,11:722588:G>A,NM_022772.3:c.1208+39G>A,\N,\N,13/20,Unknown significance,\N,intron_variant,3.86,0.000091191,EXAC_AMR_AF,EPS8L2
211974,11:722591:A>G,NM_022772.3:c.1208+42A>G,\N,\N,13/20,Unknown significance,\N,intron_variant,2.019,0.001,1KG_SAS_AF,EPS8L2
211975,11:722593:C>T,NM_022772.3:c.1208+44C>T,\N,\N,13/20,Unknown significance,\N,intron_variant,1.577,0.000125156,EXAC_SAS_AF,EPS8L2
211976,11:722594:G>A,NM_022772.3:c.1208+45G>A,\N,\N,13/20,Unknown significance,\N,intron_variant,0.403,0.000113921,EXAC_AFR_AF,EPS8L2
211977,11:722626:G>A,NM_022772.3:c.1209-47G>A,\N,\N,13/20,Unknown significance,\N,intron_variant,2.931,\N,\N,EPS8L2
211978,11:722634:C>T,NM_022772.3:c.1209-39C>T,\N,\N,13/20,Unknown significance,\N,intron_variant,5.316,\N,\N,EPS8L2
211979,11:722648:C>G,NM_022772.3:c.1209-25C>G,\N,\N,13/20,Unknown significance,\N,intron_variant,12.89,\N,\N,EPS8L2
211980,11:722652:C>T,NM_022772.3:c.1209-21C>T,\N,\N,13/20,Unknown significance,\N,intron_variant,4.718,0.000277546,EXAC_AFR_AF,EPS8L2
211981,11:722667:C>T,NM_022772.3:c.1209-6C>T,\N,\N,13/20,Unknown significance,\N,splice_region_variant&intron_variant,13.9,0.0000732708,EXAC_SAS_AF,EPS8L2
211982,11:722670:C>G,NM_022772.3:c.1209-3C>G,\N,\N,13/20,Unknown significance,\N,splice_region_variant&intron_variant,12.45,0.000124471,EXAC_AMR_AF,EPS8L2
211983,11:722673:T>C,NM_022772.3:c.1209T>C,NP_073609.2:p.Arg403=,14/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.706,\N,\N,EPS8L2
211984,11:722684:C>T,NM_022772.3:c.1220C>T,NP_073609.2:p.Pro407Leu,14/21,\N,Unknown significance,\N,missense_variant,29.9,0.0000748503,EXAC_SAS_AF,EPS8L2
211985,11:722685:G>A,NM_022772.3:c.1221G>A,NP_073609.2:p.Pro407=,14/21,\N,Unknown significance,\N,synonymous_variant,7.662,0.00022748,EVS_AA_AF,EPS8L2
211986,11:722686:C>A,NM_022772.3:c.1222C>A,NP_073609.2:p.Arg408=,14/21,\N,Unknown significance,\N,synonymous_variant,16.42,0.000142005,EXAC_AFR_AF,EPS8L2
211987,11:722687:G>A,NM_022772.3:c.1223G>A,NP_073609.2:p.Arg408Gln,14/21,\N,Likely benign,\N,missense_variant,19.7,0.000138619,EXAC_AFR_AF,EPS8L2
211988,11:722692:C>T,NM_022772.3:c.1228C>T,NP_073609.2:p.Pro410Ser,14/21,\N,Likely benign,\N,missense_variant,13.24,0.0014,1KG_AMR_AF,EPS8L2
211989,11:722697:G>C,NM_022772.3:c.1233G>C,NP_073609.2:p.Gln411His,14/21,\N,Likely benign,\N,missense_variant,6.583,0.000273823,EXAC_AFR_AF,EPS8L2
211990,11:722700:G>A,NM_022772.3:c.1236G>A,NP_073609.2:p.Val412=,14/21,\N,Unknown significance,\N,synonymous_variant,6.638,0.0000756659,EXAC_SAS_AF,EPS8L2
211991,11:722701:C>T,NM_022772.3:c.1237C>T,NP_073609.2:p.Pro413Ser,14/21,\N,Unknown significance,\N,missense_variant,22.8,\N,\N,EPS8L2
211992,11:722704:C>G,NM_022772.3:c.1240C>G,NP_073609.2:p.Leu414Val,14/21,\N,Likely benign,\N,missense_variant,5.899,0.0000210058,EXAC_NFE_AF,EPS8L2
211993,11:722708:A>G,NM_022772.3:c.1244A>G,NP_073609.2:p.Tyr415Cys,14/21,\N,Unknown significance,\N,missense_variant,23,0.0000210119,EXAC_NFE_AF,EPS8L2
211994,11:722709:C>A,NM_022772.3:c.1245C>A,NP_073609.2:p.Tyr415Ter,14/21,\N,Unknown significance,\N,stop_gained,35,\N,\N,EPS8L2
211995,11:722709:C>G,NM_022772.3:c.1245C>G,NP_073609.2:p.Tyr415Ter,14/21,\N,Unknown significance,\N,stop_gained,35,\N,\N,EPS8L2
211996,11:722709:C>T,NM_022772.3:c.1245C>T,NP_073609.2:p.Tyr415=,14/21,\N,Benign,\N,synonymous_variant,10.94,0.279358,EXAC_AFR_AF,EPS8L2
211997,11:722710:G>A,NM_022772.3:c.1246G>A,NP_073609.2:p.Val416Met,14/21,\N,Likely benign,\N,missense_variant,23.8,0.000143637,EXAC_AFR_AF,EPS8L2
211998,11:722717:A>G,NM_022772.3:c.1253A>G,NP_073609.2:p.Lys418Arg,14/21,\N,Likely benign,\N,missense_variant,7.953,0.00004424,EXAC_NFE_AF,EPS8L2
211999,11:722718:G>C,NM_022772.3:c.1254G>C,NP_073609.2:p.Lys418Asn,14/21,\N,Unknown significance,\N,missense_variant,24.9,0.000138313,EXAC_AMR_AF,EPS8L2
212000,11:722727:C>T,NM_022772.3:c.1263C>T,NP_073609.2:p.Ser421=,14/21,\N,Unknown significance,\N,synonymous_variant,13.38,0.000708215,EXAC_EAS_AF,EPS8L2
212001,11:722728:G>A,NM_022772.3:c.1264G>A,NP_073609.2:p.Gly422Ser,14/21,\N,Unknown significance,\N,missense_variant,23.4,0.000161057,EXAC_SAS_AF,EPS8L2
212002,11:722730:C>G,NM_022772.3:c.1266C>G,NP_073609.2:p.Gly422=,14/21,\N,Unknown significance,\N,synonymous_variant,8.72,0.000161655,EXAC_SAS_AF,EPS8L2
212003,11:722730:C>T,NM_022772.3:c.1266C>T,NP_073609.2:p.Gly422=,14/21,\N,Unknown significance,\N,synonymous_variant,11.3,0.00011636,EVS_EA_AF,EPS8L2
212004,11:722740:C>T,NM_022772.3:c.1276C>T,NP_073609.2:p.Pro426Ser,14/21,\N,Unknown significance,\N,missense_variant,24.5,0.000116414,EVS_EA_AF,EPS8L2
212005,11:722744:T>A,NM_022772.3:c.1280T>A,NP_073609.2:p.Val427Glu,14/21,\N,Unknown significance,\N,missense_variant,16.87,0.0000256779,EXAC_NFE_AF,EPS8L2
212006,11:722744:T>G,NM_022772.3:c.1280T>G,NP_073609.2:p.Val427Gly,14/21,\N,Unknown significance,\N,missense_variant,12.05,0.000174825,EXAC_AFR_AF,EPS8L2
212007,11:722753:T>C,NM_022772.3:c.1289T>C,NP_073609.2:p.Leu430Pro,14/21,\N,Unknown significance,\N,missense_variant,23.4,0.0000874432,EXAC_SAS_AF,EPS8L2
212008,11:722766:C>T,NM_022772.3:c.1302C>T,NP_073609.2:p.Pro434=,14/21,\N,Unknown significance,\N,synonymous_variant,12.7,0.0000965997,EXAC_SAS_AF,EPS8L2
212009,11:722776:G>A,NM_022772.3:c.1312G>A,NP_073609.2:p.Glu438Lys,14/21,\N,Unknown significance,\N,missense_variant,25.9,0.000107945,EXAC_SAS_AF,EPS8L2
212010,11:722782:C>T,NM_022772.3:c.1318C>T,NP_073609.2:p.Leu440=,14/21,\N,Unknown significance,\N,synonymous_variant,11.29,0.000119646,EXAC_SAS_AF,EPS8L2
212011,11:722786:C>T,NM_022772.3:c.1322C>T,NP_073609.2:p.Ala441Val,14/21,\N,Likely benign,\N,missense_variant,8.264,0.000285388,EXAC_EAS_AF,EPS8L2
212012,11:722787:G>A,NM_022772.3:c.1323G>A,NP_073609.2:p.Ala441=,14/21,\N,Unknown significance,\N,synonymous_variant,8.207,0.000247647,EXAC_AFR_AF,EPS8L2
212013,11:722800:G>A,NM_022772.3:c.1336G>A,NP_073609.2:p.Glu446Lys,14/21,\N,Likely benign,\N,missense_variant,14.82,0.000711744,EXAC_AMR_AF,EPS8L2
212014,11:722800:G>C,NM_022772.3:c.1336G>C,NP_073609.2:p.Glu446Gln,14/21,\N,Likely benign,\N,missense_variant,9.68,0.000051557,EXAC_NFE_AF,EPS8L2
212015,11:722810:G>C,NM_022772.3:c.1341+5G>C,\N,\N,14/20,Unknown significance,\N,splice_region_variant&intron_variant,8.081,0.00149254,EXAC_AFR_AF,EPS8L2
212016,11:722812:G>A,NM_022772.3:c.1341+7G>A,\N,\N,14/20,Unknown significance,\N,splice_region_variant&intron_variant,6.068,\N,\N,EPS8L2
212017,11:722814:A>AC,NM_022772.3:c.1341+11dup,\N,\N,14/20,Unknown significance,\N,intron_variant,4.983,\N,\N,EPS8L2
212018,11:722815:C>G,NM_022772.3:c.1341+10C>G,\N,\N,14/20,Unknown significance,\N,intron_variant,7.874,\N,\N,EPS8L2
212019,11:722818:G>A,NM_022772.3:c.1341+13G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,5.255,\N,\N,EPS8L2
212020,11:722818:GCAGCCCC>G,NM_022772.3:c.1341+16_1341+22del,\N,\N,14/20,Unknown significance,\N,intron_variant,7.397,\N,\N,EPS8L2
212021,11:722843:C>T,NM_022772.3:c.1341+38C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,1.505,\N,\N,EPS8L2
212022,11:722844:A>G,NM_022772.3:c.1341+39A>G,\N,\N,14/20,Unknown significance,\N,intron_variant,1.538,\N,\N,EPS8L2
212023,11:722849:C>T,NM_022772.3:c.1341+44C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,3.227,\N,\N,EPS8L2
212024,11:722853:T>C,NM_022772.3:c.1341+48T>C,\N,\N,14/20,Unknown significance,\N,intron_variant,2.66,\N,\N,EPS8L2
212025,11:722858:A>C,NM_022772.3:c.1341+53A>C,\N,\N,14/20,Unknown significance,\N,intron_variant,0.512,0.002,1KG_SAS_AF,EPS8L2
212026,11:722863:A>T,NM_022772.3:c.1341+58A>T,\N,\N,14/20,Unknown significance,\N,intron_variant,2.314,\N,\N,EPS8L2
212027,11:722864:G>A,NM_022772.3:c.1341+59G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,3.955,0.001,1KG_SAS_AF,EPS8L2
212028,11:722869:C>CCT,NM_022772.3:c.1341+65_1341+66insTC,\N,\N,14/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212029,11:722872:C>A,NM_022772.3:c.1341+67C>A,\N,\N,14/20,Unknown significance,\N,intron_variant,5.115,0.001,1KG_EAS_AF,EPS8L2
212030,11:722873:C>A,NM_022772.3:c.1341+68C>A,\N,\N,14/20,Unknown significance,\N,intron_variant,4.066,0.0023,1KG_AFR_AF,EPS8L2
212031,11:722874:A>G,NM_022772.3:c.1341+69A>G,\N,\N,14/20,Unknown significance,\N,intron_variant,3.717,\N,\N,EPS8L2
212032,11:722879:T>C,NM_022772.3:c.1341+74T>C,\N,\N,14/20,Unknown significance,\N,intron_variant,2.244,\N,\N,EPS8L2
212033,11:722885:C>A,NM_022772.3:c.1341+80C>A,\N,\N,14/20,Benign,\N,intron_variant,4.338,0.008,1KG_EUR_AF,EPS8L2
212034,11:722906:C>CT,NM_022772.3:c.1341+101_1341+102insT,\N,\N,14/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212035,11:722906:C>T,NM_022772.3:c.1341+101C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,5.234,0.001,1KG_EUR_AF,EPS8L2
212036,11:722907:C>G,NM_022772.3:c.1341+102C>G,\N,\N,14/20,Benign,\N,intron_variant,3.141,0.2466,1KG_AFR_AF,EPS8L2
212037,11:722909:C>A,NM_022772.3:c.1341+104C>A,\N,\N,14/20,Unknown significance,\N,intron_variant,6.342,0.0014,1KG_AMR_AF,EPS8L2
212038,11:722911:A>G,NM_022772.3:c.1341+106A>G,\N,\N,14/20,Unknown significance,\N,intron_variant,0.65,\N,\N,EPS8L2
212039,11:722916:T>C,NM_022772.3:c.1341+111T>C,\N,\N,14/20,Unknown significance,\N,intron_variant,0.546,\N,\N,EPS8L2
212040,11:722931:C>A,NM_022772.3:c.1341+126C>A,\N,\N,14/20,Unknown significance,\N,intron_variant,4.923,\N,\N,EPS8L2
212041,11:722936:T>A,NM_022772.3:c.1341+131T>A,\N,\N,14/20,Unknown significance,\N,intron_variant,5.521,\N,\N,EPS8L2
212042,11:722949:A>G,NM_022772.3:c.1341+144A>G,\N,\N,14/20,Unknown significance,\N,intron_variant,5.267,\N,\N,EPS8L2
212043,11:722969:C>A,NM_022772.3:c.1341+164C>A,\N,\N,14/20,Unknown significance,\N,intron_variant,10.96,\N,\N,EPS8L2
212044,11:722992:C>T,NM_022772.3:c.1341+187C>T,\N,\N,14/20,Benign,\N,intron_variant,7.059,0.0288,1KG_AMR_AF,EPS8L2
212045,11:723040:A>C,NM_022772.3:c.1342-201A>C,\N,\N,14/20,Benign,\N,intron_variant,7.99,0.0098,1KG_AFR_AF,EPS8L2
212046,11:723110:G>A,NM_022772.3:c.1342-131G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,2.498,0.001,1KG_SAS_AF,EPS8L2
212047,11:723116:C>T,NM_022772.3:c.1342-125C>T,\N,\N,14/20,Benign,\N,intron_variant,4.003,0.2986,1KG_EAS_AF,EPS8L2
212048,11:723129:C>T,NM_022772.3:c.1342-112C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,6.271,0.0029,1KG_AMR_AF,EPS8L2
212049,11:723149:C>T,NM_022772.3:c.1342-92C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,7.097,0.001,1KG_EUR_AF,EPS8L2
212050,11:723196:C>G,NM_022772.3:c.1342-45C>G,\N,\N,14/20,Unknown significance,\N,intron_variant,9.385,0.0000902039,EXAC_SAS_AF,EPS8L2
212051,11:723197:A>C,NM_022772.3:c.1342-44A>C,\N,\N,14/20,Benign,\N,intron_variant,8.753,0.0119,1KG_EAS_AF,EPS8L2
212052,11:723199:C>T,NM_022772.3:c.1342-42C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,11.68,0.0014,1KG_AMR_AF,EPS8L2
212053,11:723202:C>T,NM_022772.3:c.1342-39C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,3.17,0.0000316166,EXAC_NFE_AF,EPS8L2
212054,11:723203:G>A,NM_022772.3:c.1342-38G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,6.212,0.000226963,EVS_AA_AF,EPS8L2
212055,11:723203:G>GC,NM_022772.3:c.1342-34dup,\N,\N,14/20,Unknown significance,\N,intron_variant,5.244,0.000174886,EXAC_AMR_AF,EPS8L2
212056,11:723205:C>T,NM_022772.3:c.1342-36C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,7.538,0.0000881213,EXAC_SAS_AF,EPS8L2
212057,11:723220:G>A,NM_022772.3:c.1342-21G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,4.244,0.000232558,EVS_EA_AF,EPS8L2
212058,11:723221:G>A,NM_022772.3:c.1342-20G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,3.684,0.0000313617,EXAC_NFE_AF,EPS8L2
212059,11:723222:T>C,NM_022772.3:c.1342-19T>C,\N,\N,14/20,Unknown significance,\N,intron_variant,1.032,0.0000156873,EXAC_NFE_AF,EPS8L2
212060,11:723223:C>T,NM_022772.3:c.1342-18C>T,\N,\N,14/20,Unknown significance,\N,intron_variant,1.441,0.000083724,EXAC_SAS_AF,EPS8L2
212061,11:723224:G>A,NM_022772.3:c.1342-17G>A,\N,\N,14/20,Unknown significance,\N,intron_variant,3.974,\N,\N,EPS8L2
212062,11:723224:G>T,NM_022772.3:c.1342-17G>T,\N,\N,14/20,Unknown significance,\N,intron_variant,1.998,0.001,1KG_EAS_AF,EPS8L2
212063,11:723241:G>A,NM_022772.3:c.1342G>A,NP_073609.2:p.Val448Met,15/21,\N,Likely benign,\N,missense_variant&splice_region_variant,8.351,0.000098464,EXAC_AFR_AF,EPS8L2
212064,11:723245:G>C,NM_022772.3:c.1346G>C,NP_073609.2:p.Ser449Thr,15/21,\N,Likely benign,\N,missense_variant,0.005,0.0000726111,EXAC_SAS_AF,EPS8L2
212065,11:723256:C>T,NM_022772.3:c.1357C>T,NP_073609.2:p.Arg453Ter,15/21,\N,Unknown significance,\N,stop_gained,36,0.0000154202,EXAC_NFE_AF,EPS8L2
212066,11:723257:G>A,NM_022772.3:c.1358G>A,NP_073609.2:p.Arg453Gln,15/21,\N,Likely benign,\N,missense_variant,16.36,0.000226963,EVS_AA_AF,EPS8L2
212067,11:723265:A>G,NM_022772.3:c.1366A>G,NP_073609.2:p.Ile456Val,15/21,\N,Likely benign,\N,missense_variant,0.001,0.0000153643,EXAC_NFE_AF,EPS8L2
212068,11:723271:A>C,NM_022772.3:c.1372A>C,NP_073609.2:p.Asn458His,15/21,\N,Likely benign,\N,missense_variant,0.151,0.0000153572,EXAC_NFE_AF,EPS8L2
212069,11:723272:A>T,NM_022772.3:c.1373A>T,NP_073609.2:p.Asn458Ile,15/21,\N,Likely benign,\N,missense_variant,5.314,\N,\N,EPS8L2
212070,11:723289:C>A,NM_022772.3:c.1390C>A,NP_073609.2:p.Pro464Thr,15/21,\N,Likely benign,\N,missense_variant,0.905,0.0000655996,EXAC_SAS_AF,EPS8L2
212071,11:723291:C>T,NM_022772.3:c.1392C>T,NP_073609.2:p.Pro464=,15/21,\N,Unknown significance,\N,synonymous_variant,8.505,0.000151286,EXAC_FIN_AF,EPS8L2
212072,11:723292:A>G,NM_022772.3:c.1393A>G,NP_073609.2:p.Thr465Ala,15/21,\N,Likely benign,\N,missense_variant,0.001,0.000260824,EXAC_AMR_AF,EPS8L2
212073,11:723296:C>T,NM_022772.3:c.1397C>T,NP_073609.2:p.Ser466Leu,15/21,\N,Likely benign,\N,missense_variant,7.023,0.0008,1KG_AFR_AF,EPS8L2
212074,11:723301:C>T,NM_022772.3:c.1402C>T,NP_073609.2:p.Pro468Ser,15/21,\N,Likely benign,\N,missense_variant,0.007,0.001,1KG_EUR_AF,EPS8L2
212075,11:723304:A>AC,NM_022772.3:c.1412dup,NP_073609.2:p.Asp473GlyfsTer30,15/21,\N,Unknown significance,\N,frameshift_variant,23.2,\N,\N,EPS8L2
212076,11:723305:C>T,NM_022772.3:c.1406C>T,NP_073609.2:p.Thr469Ile,15/21,\N,Likely benign,\N,missense_variant,5.059,0.000015454,EXAC_NFE_AF,EPS8L2
212077,11:723306:C>A,NM_022772.3:c.1407C>A,NP_073609.2:p.Thr469=,15/21,\N,Unknown significance,\N,synonymous_variant,13.17,\N,\N,EPS8L2
212078,11:723307:C>T,NM_022772.3:c.1408C>T,NP_073609.2:p.Pro470Ser,15/21,\N,Likely benign,\N,missense_variant,2.709,0.0000682501,EXAC_SAS_AF,EPS8L2
212079,11:723309:C>A,NM_022772.3:c.1410C>A,NP_073609.2:p.Pro470=,15/21,\N,Unknown significance,\N,synonymous_variant,12.08,0.00113533,EVS_AA_AF,EPS8L2
212080,11:723309:C>G,NM_022772.3:c.1410C>G,NP_073609.2:p.Pro470=,15/21,\N,Unknown significance,\N,synonymous_variant,8.571,0.0000870019,EXAC_AMR_AF,EPS8L2
212081,11:723311:C>CG,NM_022772.3:c.1417dup,NP_073609.2:p.Asp473GlyfsTer30,15/21,\N,Unknown significance,\N,frameshift_variant,23.6,0.00118133,EXAC_AFR_AF,EPS8L2
212082,11:723311:C>CGG,NM_022772.3:c.1416_1417dup,NP_073609.2:p.Asp473GlyfsTer48,15/21,\N,Unknown significance,\N,frameshift_variant,23.6,0.0000154402,EXAC_NFE_AF,EPS8L2
212083,11:723311:C>G,NM_022772.3:c.1412C>G,NP_073609.2:p.Pro471Arg,15/21,\N,Likely benign,\N,missense_variant,5.661,0.0000984446,EXAC_AFR_AF,EPS8L2
212084,11:723311:C>T,NM_022772.3:c.1412C>T,NP_073609.2:p.Pro471Leu,15/21,\N,Benign,\N,missense_variant,11.19,0.089683,EXAC_AFR_AF,EPS8L2
212085,11:723312:G>A,NM_022772.3:c.1413G>A,NP_073609.2:p.Pro471=,15/21,\N,Unknown significance,\N,synonymous_variant,8.667,0.000348068,EXAC_AMR_AF,EPS8L2
212086,11:723312:G>T,NM_022772.3:c.1413G>T,NP_073609.2:p.Pro471=,15/21,\N,Unknown significance,\N,synonymous_variant,6.425,0.0008,1KG_AFR_AF,EPS8L2
212087,11:723315:G>A,NM_022772.3:c.1416G>A,NP_073609.2:p.Gly472=,15/21,\N,Unknown significance,\N,synonymous_variant,4.578,0.0008,1KG_AFR_AF,EPS8L2
212088,11:723317:A>G,NM_022772.3:c.1418A>G,NP_073609.2:p.Asp473Gly,15/21,\N,Likely benign,\N,missense_variant,8.15,0.000151423,EXAC_FIN_AF,EPS8L2
212089,11:723327:A>AC,NM_022772.3:c.1430dup,NP_073609.2:p.Val478SerfsTer25,15/21,\N,Unknown significance,\N,frameshift_variant,23.4,0.00118483,EXAC_OTH_AF,EPS8L2
212090,11:723342:A>G,NM_022772.3:c.1443A>G,NP_073609.2:p.Pro481=,15/21,\N,Unknown significance,\N,synonymous_variant,3.663,0.001,1KG_EAS_AF,EPS8L2
212091,11:723351:C>G,NM_022772.3:c.1452C>G,NP_073609.2:p.His484Gln,15/21,\N,Likely benign,\N,missense_variant&splice_region_variant,12.5,0.0000159632,EXAC_NFE_AF,EPS8L2
212092,11:723363:C>A,NM_022772.3:c.1454+10C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,13.68,0.0000886054,EXAC_AMR_AF,EPS8L2
212093,11:723371:T>G,NM_022772.3:c.1454+18T>G,\N,\N,15/20,Unknown significance,\N,intron_variant,10.74,0.000116333,EVS_EA_AF,EPS8L2
212094,11:723375:G>A,NM_022772.3:c.1454+22G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,8.364,0.0000165481,EXAC_NFE_AF,EPS8L2
212095,11:723380:A>G,NM_022772.3:c.1454+27A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,5.609,0.0000166995,EXAC_NFE_AF,EPS8L2
212096,11:723385:A>G,NM_022772.3:c.1454+32A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,1.502,0.0000336101,EXAC_NFE_AF,EPS8L2
212097,11:723393:C>A,NM_022772.3:c.1454+40C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,7.217,0.000117841,EXAC_SAS_AF,EPS8L2
212098,11:723393:C>T,NM_022772.3:c.1454+40C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,4.441,0.00197785,EXAC_EAS_AF,EPS8L2
212099,11:723394:C>T,NM_022772.3:c.1454+41C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,4.578,0.0000345113,EXAC_NFE_AF,EPS8L2
212100,11:723398:A>G,NM_022772.3:c.1454+45A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,2.044,0.0000174997,EXAC_NFE_AF,EPS8L2
212101,11:723401:A>T,NM_022772.3:c.1454+48A>T,\N,\N,15/20,Unknown significance,\N,intron_variant,0.681,\N,\N,EPS8L2
212102,11:723403:C>G,NM_022772.3:c.1454+50C>G,\N,\N,15/20,Unknown significance,\N,intron_variant,1.21,\N,\N,EPS8L2
212103,11:723423:T>C,NM_022772.3:c.1454+70T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.57,0.002,1KG_EAS_AF,EPS8L2
212104,11:723429:C>T,NM_022772.3:c.1454+76C>T,\N,\N,15/20,Benign,\N,intron_variant,2.767,0.6182,1KG_AMR_AF,EPS8L2
212105,11:723441:G>C,NM_022772.3:c.1454+88G>C,\N,\N,15/20,Unknown significance,\N,intron_variant,1.563,\N,\N,EPS8L2
212106,11:723481:T>G,NM_022772.3:c.1454+128T>G,\N,\N,15/20,Unknown significance,\N,intron_variant,2.611,0.001,1KG_EUR_AF,EPS8L2
212107,11:723488:T>C,NM_022772.3:c.1454+135T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.597,0.0008,1KG_AFR_AF,EPS8L2
212108,11:723509:C>T,NM_022772.3:c.1454+156C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,2.571,0.0015,1KG_AFR_AF,EPS8L2
212109,11:723517:T>C,NM_022772.3:c.1454+164T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.697,0.001,1KG_SAS_AF,EPS8L2
212110,11:723529:G>A,NM_022772.3:c.1454+176G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,2.651,0.001,1KG_EAS_AF,EPS8L2
212111,11:723545:T>C,NM_022772.3:c.1454+192T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,1.82,\N,\N,EPS8L2
212112,11:723552:C>T,NM_022772.3:c.1454+199C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,2.798,\N,\N,EPS8L2
212113,11:723574:C>T,NM_022772.3:c.1454+221C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,4.619,0.001,1KG_EAS_AF,EPS8L2
212114,11:723579:T>G,NM_022772.3:c.1454+226T>G,\N,\N,15/20,Unknown significance,\N,intron_variant,0.488,\N,\N,EPS8L2
212115,11:723585:G>C,NM_022772.3:c.1454+232G>C,\N,\N,15/20,Unknown significance,\N,intron_variant,1.414,0.001,1KG_EAS_AF,EPS8L2
212116,11:723591:C>A,NM_022772.3:c.1454+238C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,5.347,0.001,1KG_SAS_AF,EPS8L2
212117,11:723594:C>T,NM_022772.3:c.1454+241C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,6.068,0.0014,1KG_AMR_AF,EPS8L2
212118,11:723613:A>G,NM_022772.3:c.1454+260A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,6.964,0.002,1KG_EAS_AF,EPS8L2
212119,11:723615:G>A,NM_022772.3:c.1454+262G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,7.504,0.003,1KG_EUR_AF,EPS8L2
212120,11:723644:G>A,NM_022772.3:c.1454+291G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.865,0.0041,1KG_SAS_AF,EPS8L2
212121,11:723710:G>C,NM_022772.3:c.1454+357G>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.915,0.0023,1KG_AFR_AF,EPS8L2
212122,11:723730:G>T,NM_022772.3:c.1454+377G>T,\N,\N,15/20,Unknown significance,\N,intron_variant,1.362,0.0008,1KG_AFR_AF,EPS8L2
212123,11:723756:C>T,NM_022772.3:c.1454+403C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,5.004,0.002,1KG_EAS_AF,EPS8L2
212124,11:723777:C>A,NM_022772.3:c.1454+424C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,3.965,\N,\N,EPS8L2
212125,11:723809:T>C,NM_022772.3:c.1454+456T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.074,\N,\N,EPS8L2
212126,11:723869:G>A,NM_022772.3:c.1454+516G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,2.832,\N,\N,EPS8L2
212127,11:723880:A>C,NM_022772.3:c.1454+527A>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.497,\N,\N,EPS8L2
212128,11:723891:C>G,NM_022772.3:c.1454+538C>G,\N,\N,15/20,Unknown significance,\N,intron_variant,0.13,0.001,1KG_EUR_AF,EPS8L2
212129,11:723905:C>T,NM_022772.3:c.1454+552C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,1.457,0.0029,1KG_AMR_AF,EPS8L2
212130,11:723927:A>G,NM_022772.3:c.1454+574A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,0.221,\N,\N,EPS8L2
212131,11:723933:G>A,NM_022772.3:c.1454+580G>A,\N,\N,15/20,Benign,\N,intron_variant,8.211,0.006,1KG_EAS_AF,EPS8L2
212132,11:723937:C>T,NM_022772.3:c.1454+584C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,8.191,0.001,1KG_EUR_AF,EPS8L2
212133,11:723998:G>A,NM_022772.3:c.1454+645G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.039,0.001,1KG_EAS_AF,EPS8L2
212134,11:724007:G>A,NM_022772.3:c.1454+654G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,2.02,0.001,1KG_EAS_AF,EPS8L2
212135,11:724045:C>G,NM_022772.3:c.1455-679C>G,\N,\N,15/20,Unknown significance,\N,intron_variant,1.631,\N,\N,EPS8L2
212136,11:724099:C>A,NM_022772.3:c.1455-625C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,1.302,\N,\N,EPS8L2
212137,11:724121:C>T,NM_022772.3:c.1455-603C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,11.3,\N,\N,EPS8L2
212138,11:724164:C>T,NM_022772.3:c.1455-560C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,4.293,0.002,1KG_SAS_AF,EPS8L2
212139,11:724213:C>T,NM_022772.3:c.1455-511C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,3.126,\N,\N,EPS8L2
212140,11:724218:C>T,NM_022772.3:c.1455-506C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,2.985,0.0014,1KG_AMR_AF,EPS8L2
212141,11:724222:C>T,NM_022772.3:c.1455-502C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,3.466,0.001,1KG_EAS_AF,EPS8L2
212142,11:724238:G>A,NM_022772.3:c.1455-486G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.107,\N,\N,EPS8L2
212143,11:724240:G>A,NM_022772.3:c.1455-484G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.731,0.001,1KG_EUR_AF,EPS8L2
212144,11:724257:C>T,NM_022772.3:c.1455-467C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,8.378,\N,\N,EPS8L2
212145,11:724258:C>T,NM_022772.3:c.1455-466C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,9.159,0.0038,1KG_AFR_AF,EPS8L2
212146,11:724265:A>G,NM_022772.3:c.1455-459A>G,\N,\N,15/20,Unknown significance,\N,intron_variant,7.574,0.001,1KG_SAS_AF,EPS8L2
212147,11:724270:G>A,NM_022772.3:c.1455-454G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,5.156,\N,\N,EPS8L2
212148,11:724285:C>T,NM_022772.3:c.1455-439C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,0.921,0.0023,1KG_AFR_AF,EPS8L2
212149,11:724286:G>A,NM_022772.3:c.1455-438G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.012,\N,\N,EPS8L2
212150,11:724297:G>T,NM_022772.3:c.1455-427G>T,\N,\N,15/20,Unknown significance,\N,intron_variant,0.983,0.001,1KG_EUR_AF,EPS8L2
212151,11:724313:T>C,NM_022772.3:c.1455-411T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.507,0.001,1KG_EAS_AF,EPS8L2
212152,11:724333:C>T,NM_022772.3:c.1455-391C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,6.376,\N,\N,EPS8L2
212153,11:724370:C>T,NM_022772.3:c.1455-354C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,2.464,0.001,1KG_SAS_AF,EPS8L2
212154,11:724390:G>A,NM_022772.3:c.1455-334G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,3.705,\N,\N,EPS8L2
212155,11:724394:C>T,NM_022772.3:c.1455-330C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,7.174,0.003,1KG_EAS_AF,EPS8L2
212156,11:724402:C>T,NM_022772.3:c.1455-322C>T,\N,\N,15/20,Benign,\N,intron_variant,5.181,0.0086,1KG_AMR_AF,EPS8L2
212157,11:724427:G>A,NM_022772.3:c.1455-297G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,4.459,0.002,1KG_SAS_AF,EPS8L2
212158,11:724443:C>A,NM_022772.3:c.1455-281C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,6.038,0.001,1KG_SAS_AF,EPS8L2
212159,11:724490:T>C,NM_022772.3:c.1455-234T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,1.529,0.0008,1KG_AFR_AF,EPS8L2
212160,11:724491:G>T,NM_022772.3:c.1455-233G>T,\N,\N,15/20,Unknown significance,\N,intron_variant,0.501,0.002,1KG_SAS_AF,EPS8L2
212161,11:724492:C>T,NM_022772.3:c.1455-232C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,5.057,0.001,1KG_EAS_AF,EPS8L2
212162,11:724502:A>T,NM_022772.3:c.1455-222A>T,\N,\N,15/20,Benign,\N,intron_variant,5.336,0.2986,1KG_EAS_AF,EPS8L2
212163,11:724525:C>T,NM_022772.3:c.1455-199C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,6.585,0.001,1KG_SAS_AF,EPS8L2
212164,11:724567:G>C,NM_022772.3:c.1455-157G>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.354,0.001,1KG_SAS_AF,EPS8L2
212165,11:724574:C>G,NM_022772.3:c.1455-150C>G,\N,\N,15/20,Unknown significance,\N,intron_variant,2.481,0.002,1KG_SAS_AF,EPS8L2
212166,11:724575:G>A,NM_022772.3:c.1455-149G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,5.842,0.0043,1KG_AMR_AF,EPS8L2
212167,11:724624:G>A,NM_022772.3:c.1455-100G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,7.278,0.001,1KG_SAS_AF,EPS8L2
212168,11:724651:C>A,NM_022772.3:c.1455-73C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,0.729,0.0008,1KG_AFR_AF,EPS8L2
212169,11:724665:C>T,NM_022772.3:c.1455-59C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,3.361,0.0014,1KG_AMR_AF,EPS8L2
212170,11:724667:C>T,NM_022772.3:c.1455-57C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,4.767,\N,\N,EPS8L2
212171,11:724682:A>T,NM_022772.3:c.1455-42A>T,\N,\N,15/20,Unknown significance,\N,intron_variant,1.508,0.000119531,EXAC_EAS_AF,EPS8L2
212172,11:724683:C>A,NM_022772.3:c.1455-41C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,5.664,0.0000156406,EXAC_NFE_AF,EPS8L2
212173,11:724685:C>T,NM_022772.3:c.1455-39C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,6.995,0.0008,1KG_AFR_AF,EPS8L2
212174,11:724686:C>T,NM_022772.3:c.1455-38C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,7.025,0.0000156113,EXAC_NFE_AF,EPS8L2
212175,11:724687:C>T,NM_022772.3:c.1455-37C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,5.953,0.0000618123,EXAC_SAS_AF,EPS8L2
212176,11:724693:A>T,NM_022772.3:c.1455-31A>T,\N,\N,15/20,Unknown significance,\N,intron_variant,0.625,0.000116414,EVS_EA_AF,EPS8L2
212177,11:724696:G>A,NM_022772.3:c.1455-28G>A,\N,\N,15/20,Unknown significance,\N,intron_variant,2.555,0.0000616143,EXAC_SAS_AF,EPS8L2
212178,11:724696:G>C,NM_022772.3:c.1455-28G>C,\N,\N,15/20,Unknown significance,\N,intron_variant,0.789,0.0014,1KG_AMR_AF,EPS8L2
212179,11:724698:G>T,NM_022772.3:c.1455-26G>T,\N,\N,15/20,Unknown significance,\N,intron_variant,1.488,0.000046503,EXAC_NFE_AF,EPS8L2
212180,11:724699:C>T,NM_022772.3:c.1455-25C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,7.017,0.000227169,EVS_AA_AF,EPS8L2
212181,11:724702:C>T,NM_022772.3:c.1455-22C>T,\N,\N,15/20,Unknown significance,\N,intron_variant,7.198,0.000232775,EVS_EA_AF,EPS8L2
212182,11:724705:C>A,NM_022772.3:c.1455-19C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,5.687,0.00011636,EVS_EA_AF,EPS8L2
212183,11:724710:C>A,NM_022772.3:c.1455-14C>A,\N,\N,15/20,Unknown significance,\N,intron_variant,4.476,0.0000153695,EXAC_NFE_AF,EPS8L2
212184,11:724715:T>C,NM_022772.3:c.1455-9T>C,\N,\N,15/20,Unknown significance,\N,intron_variant,5.732,0.0000875044,EXAC_AMR_AF,EPS8L2
212185,11:724717:C>T,NM_022772.3:c.1455-7C>T,\N,\N,15/20,Unknown significance,\N,splice_region_variant&intron_variant,7.141,\N,\N,EPS8L2
212186,11:724720:A>T,NM_022772.3:c.1455-4A>T,\N,\N,15/20,Unknown significance,\N,splice_region_variant&intron_variant,0.211,0.001,1KG_EAS_AF,EPS8L2
212187,11:724721:C>T,NM_022772.3:c.1455-3C>T,\N,\N,15/20,Unknown significance,\N,splice_region_variant&intron_variant,14.45,0.000060983,EXAC_SAS_AF,EPS8L2
212188,11:724733:G>A,NM_022772.3:c.1464G>A,NP_073609.2:p.Gln488=,16/21,\N,Unknown significance,\N,synonymous_variant,9.02,0.0000868961,EXAC_AMR_AF,EPS8L2
212189,11:724747:T>C,NM_022772.3:c.1478T>C,NP_073609.2:p.Met493Thr,16/21,\N,Likely benign,\N,missense_variant,8.556,0.000115821,EXAC_EAS_AF,EPS8L2
212190,11:724748:G>A,NM_022772.3:c.1479G>A,NP_073609.2:p.Met493Ile,16/21,\N,Likely benign,\N,missense_variant,19,0.000303177,EXAC_SAS_AF,EPS8L2
212191,11:724751:C>T,NM_022772.3:c.1482C>T,NP_073609.2:p.Ala494=,16/21,\N,Unknown significance,\N,synonymous_variant,15.93,\N,\N,EPS8L2
212192,11:724752:A>G,NM_022772.3:c.1483A>G,NP_073609.2:p.Lys495Glu,16/21,\N,Unknown significance,\N,missense_variant,26.8,0.0000304303,EXAC_NFE_AF,EPS8L2
212193,11:724755:T>C,NM_022772.3:c.1486T>C,NP_073609.2:p.Tyr496His,16/21,\N,Unknown significance,\N,missense_variant,26.2,0.0000152124,EXAC_NFE_AF,EPS8L2
212194,11:724757:C>T,NM_022772.3:c.1488C>T,NP_073609.2:p.Tyr496=,16/21,\N,Unknown significance,\N,synonymous_variant,14.39,0.0015,1KG_AFR_AF,EPS8L2
212195,11:724758:G>A,NM_022772.3:c.1489G>A,NP_073609.2:p.Val497Ile,16/21,\N,Unknown significance,\N,missense_variant,24.8,0.000076041,EXAC_NFE_AF,EPS8L2
212196,11:724758:G>C,NM_022772.3:c.1489G>C,NP_073609.2:p.Val497Leu,16/21,\N,Unknown significance,\N,missense_variant,23,0.000116279,EVS_EA_AF,EPS8L2
212197,11:724772:T>C,NM_022772.3:c.1503T>C,NP_073609.2:p.Tyr501=,16/21,\N,Unknown significance,\N,synonymous_variant,0.007,\N,\N,EPS8L2
212198,11:724778:C>A,NM_022772.3:c.1509C>A,NP_073609.2:p.Phe503Leu,16/21,\N,Unknown significance,\N,missense_variant,23.9,0.000227066,EVS_AA_AF,EPS8L2
212199,11:724785:C>T,NM_022772.3:c.1516C>T,NP_073609.2:p.Arg506Ter,16/21,\N,Unknown significance,\N,stop_gained,37,0.000116306,EVS_EA_AF,EPS8L2
212200,11:724786:G>A,NM_022772.3:c.1517G>A,NP_073609.2:p.Arg506Gln,16/21,\N,Unknown significance,\N,missense_variant,24.8,0.0000152036,EXAC_NFE_AF,EPS8L2
212201,11:724786:G>T,NM_022772.3:c.1517G>T,NP_073609.2:p.Arg506Leu,16/21,\N,Unknown significance,\N,missense_variant,24.5,0.0000304072,EXAC_NFE_AF,EPS8L2
212202,11:724795:A>G,NM_022772.3:c.1526A>G,NP_073609.2:p.Asn509Ser,16/21,\N,Unknown significance,\N,missense_variant,2.62,0.0000152114,EXAC_NFE_AF,EPS8L2
212203,11:724796:C>A,NM_022772.3:c.1527C>A,NP_073609.2:p.Asn509Lys,16/21,\N,Unknown significance,\N,missense_variant,24.3,0.0000152133,EXAC_NFE_AF,EPS8L2
212204,11:724796:C>G,NM_022772.3:c.1527C>G,NP_073609.2:p.Asn509Lys,16/21,\N,Unknown significance,\N,missense_variant,23.7,0.0000152133,EXAC_NFE_AF,EPS8L2
212205,11:724796:C>T,NM_022772.3:c.1527C>T,NP_073609.2:p.Asn509=,16/21,\N,Unknown significance,\N,synonymous_variant,11.44,0.0000304266,EXAC_NFE_AF,EPS8L2
212206,11:724797:G>A,NM_022772.3:c.1528G>A,NP_073609.2:p.Glu510Lys,16/21,\N,Unknown significance,\N,missense_variant,28.3,0.000115955,EXAC_EAS_AF,EPS8L2
212207,11:724802:A>G,NM_022772.3:c.1533A>G,NP_073609.2:p.Leu511=,16/21,\N,Unknown significance,\N,synonymous_variant,1.006,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
212208,11:724804:C>T,NM_022772.3:c.1535C>T,NP_073609.2:p.Ser512Leu,16/21,\N,Unknown significance,\N,missense_variant,27.9,0.0000152337,EXAC_NFE_AF,EPS8L2
212209,11:724805:G>A,NM_022772.3:c.1536G>A,NP_073609.2:p.Ser512=,16/21,\N,Unknown significance,\N,synonymous_variant,7.064,0.000116387,EVS_EA_AF,EPS8L2
212210,11:724805:G>C,NM_022772.3:c.1536G>C,NP_073609.2:p.Ser512=,16/21,\N,Unknown significance,\N,synonymous_variant,2.562,0.0000304813,EXAC_NFE_AF,EPS8L2
212211,11:724805:G>T,NM_022772.3:c.1536G>T,NP_073609.2:p.Ser512=,16/21,\N,Unknown significance,\N,synonymous_variant,3.779,\N,\N,EPS8L2
212212,11:724814:G>C,NM_022772.3:c.1545G>C,NP_073609.2:p.Lys515Asn,16/21,\N,Unknown significance,\N,missense_variant,24.6,0.000227169,EVS_AA_AF,EPS8L2
212213,11:724820:G>A,NM_022772.3:c.1551G>A,NP_073609.2:p.Glu517=,16/21,\N,Unknown significance,\N,synonymous_variant,9.207,\N,\N,EPS8L2
212214,11:724831:T>A,NM_022772.3:c.1560+2T>A,\N,\N,16/20,Unknown significance,\N,splice_donor_variant,24.1,0.0000620578,EXAC_SAS_AF,EPS8L2
212215,11:724834:G>A,NM_022772.3:c.1560+5G>A,\N,\N,16/20,Unknown significance,\N,splice_region_variant&intron_variant,13.28,0.00011636,EVS_EA_AF,EPS8L2
212216,11:724835:G>A,NM_022772.3:c.1560+6G>A,\N,\N,16/20,Unknown significance,\N,splice_region_variant&intron_variant,10.83,0.00011636,EVS_EA_AF,EPS8L2
212217,11:724844:G>A,NM_022772.3:c.1560+15G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,2.04,0.0000629168,EXAC_SAS_AF,EPS8L2
212218,11:724846:C>T,NM_022772.3:c.1560+17C>T,\N,\N,16/20,Benign,\N,intron_variant,0.025,0.0787,1KG_AFR_AF,EPS8L2
212219,11:724854:A>G,NM_022772.3:c.1560+25A>G,\N,\N,16/20,Unknown significance,\N,intron_variant,0.253,0.0000636213,EXAC_SAS_AF,EPS8L2
212220,11:724856:GAGGGGGAAACAGGGC>G,NM_022772.3:c.1560+32_1560+46del,\N,\N,16/20,Unknown significance,\N,intron_variant,6.282,\N,\N,EPS8L2
212221,11:724858:G>A,NM_022772.3:c.1560+29G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,3.694,0.0000161865,EXAC_NFE_AF,EPS8L2
212222,11:724859:G>A,NM_022772.3:c.1560+30G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,4.224,0.0000640861,EXAC_SAS_AF,EPS8L2
212223,11:724860:G>A,NM_022772.3:c.1560+31G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,1.916,0.000107573,EXAC_AFR_AF,EPS8L2
212224,11:724862:G>A,NM_022772.3:c.1560+33G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,4.34,0.0000642013,EXAC_SAS_AF,EPS8L2
212225,11:724865:A>G,NM_022772.3:c.1560+36A>G,\N,\N,16/20,Unknown significance,\N,intron_variant,1.109,0.0000646078,EXAC_SAS_AF,EPS8L2
212226,11:724875:GC>G,NM_022772.3:c.1560+47del,\N,\N,16/20,Unknown significance,\N,intron_variant,0.032,\N,\N,EPS8L2
212227,11:724877:T>C,NM_022772.3:c.1560+48T>C,\N,\N,16/20,Unknown significance,\N,intron_variant,1.282,0.000172176,EXAC_FIN_AF,EPS8L2
212228,11:724891:T>C,NM_022772.3:c.1560+62T>C,\N,\N,16/20,Unknown significance,\N,intron_variant,3.291,0.0015,1KG_AFR_AF,EPS8L2
212229,11:724910:C>T,NM_022772.3:c.1560+81C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,2.537,0.001,1KG_SAS_AF,EPS8L2
212230,11:724911:G>T,NM_022772.3:c.1560+82G>T,\N,\N,16/20,Unknown significance,\N,intron_variant,0.093,\N,\N,EPS8L2
212231,11:725026:A>G,NM_022772.3:c.1560+197A>G,\N,\N,16/20,Unknown significance,\N,intron_variant,2.615,0.001,1KG_SAS_AF,EPS8L2
212232,11:725044:G>A,NM_022772.3:c.1560+215G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,3.439,0.001,1KG_EAS_AF,EPS8L2
212233,11:725053:A>G,NM_022772.3:c.1560+224A>G,\N,\N,16/20,Unknown significance,\N,intron_variant,1.765,\N,\N,EPS8L2
212234,11:725090:C>A,NM_022772.3:c.1560+261C>A,\N,\N,16/20,Unknown significance,\N,intron_variant,0.173,0.001,1KG_EAS_AF,EPS8L2
212235,11:725092:T>G,NM_022772.3:c.1560+263T>G,\N,\N,16/20,Unknown significance,\N,intron_variant,6.72,0.001,1KG_SAS_AF,EPS8L2
212236,11:725102:G>A,NM_022772.3:c.1560+273G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,0.82,0.001,1KG_EAS_AF,EPS8L2
212237,11:725106:G>T,NM_022772.3:c.1560+277G>T,\N,\N,16/20,Unknown significance,\N,intron_variant,0.414,\N,\N,EPS8L2
212238,11:725152:G>A,NM_022772.3:c.1560+323G>A,\N,\N,16/20,Benign,\N,intron_variant,3.202,0.0099,1KG_EAS_AF,EPS8L2
212239,11:725165:G>A,NM_022772.3:c.1560+336G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,6.844,0.0029,1KG_AMR_AF,EPS8L2
212240,11:725207:TA>T,NM_022772.3:c.1560+379del,\N,\N,16/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212241,11:725210:G>C,NM_022772.3:c.1560+381G>C,\N,\N,16/20,Unknown significance,\N,intron_variant,11.85,0.0014,1KG_AMR_AF,EPS8L2
212242,11:725243:C>T,NM_022772.3:c.1560+414C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,1.835,0.002,1KG_EAS_AF,EPS8L2
212243,11:725305:G>C,NM_022772.3:c.1561-423G>C,\N,\N,16/20,Unknown significance,\N,intron_variant,0.024,0.0031,1KG_SAS_AF,EPS8L2
212244,11:725326:C>T,NM_022772.3:c.1561-402C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,3.678,\N,\N,EPS8L2
212245,11:725352:A>T,NM_022772.3:c.1561-376A>T,\N,\N,16/20,Unknown significance,\N,intron_variant,2.716,0.002,1KG_SAS_AF,EPS8L2
212246,11:725393:C>T,NM_022772.3:c.1561-335C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,0.165,\N,\N,EPS8L2
212247,11:725402:T>A,NM_022772.3:c.1561-326T>A,\N,\N,16/20,Unknown significance,\N,intron_variant,5.084,0.0015,1KG_AFR_AF,EPS8L2
212248,11:725403:C>A,NM_022772.3:c.1561-325C>A,\N,\N,16/20,Unknown significance,\N,intron_variant,4.726,0.0015,1KG_AFR_AF,EPS8L2
212249,11:725448:C>T,NM_022772.3:c.1561-280C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,5.228,\N,\N,EPS8L2
212250,11:725480:C>T,NM_022772.3:c.1561-248C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,3.978,0.001,1KG_EUR_AF,EPS8L2
212251,11:725508:C>G,NM_022772.3:c.1561-220C>G,\N,\N,16/20,Unknown significance,\N,intron_variant,3.73,0.0015,1KG_AFR_AF,EPS8L2
212252,11:725555:A>G,NM_022772.3:c.1561-173A>G,\N,\N,16/20,Benign,\N,intron_variant,6.187,0.0368,1KG_SAS_AF,EPS8L2
212253,11:725581:G>A,NM_022772.3:c.1561-147G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,2.444,0.0029,1KG_AMR_AF,EPS8L2
212254,11:725589:CAG>C,NM_022772.3:c.1561-138_1561-137del,\N,\N,16/20,Unknown significance,\N,intron_variant,8.351,0.002,1KG_EAS_AF,EPS8L2
212255,11:725594:G>C,NM_022772.3:c.1561-134G>C,\N,\N,16/20,Unknown significance,\N,intron_variant,0.077,\N,\N,EPS8L2
212256,11:725601:G>A,NM_022772.3:c.1561-127G>A,\N,\N,16/20,Benign,\N,intron_variant,5.608,0.0318,1KG_AFR_AF,EPS8L2
212257,11:725614:A>G,NM_022772.3:c.1561-114A>G,\N,\N,16/20,Unknown significance,\N,intron_variant,3.333,\N,\N,EPS8L2
212258,11:725649:C>T,NM_022772.3:c.1561-79C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,7.447,0.001,1KG_EAS_AF,EPS8L2
212259,11:725651:C>T,NM_022772.3:c.1561-77C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,4.782,0.001,1KG_SAS_AF,EPS8L2
212260,11:725659:C>T,NM_022772.3:c.1561-69C>T,\N,\N,16/20,Unknown significance,\N,intron_variant,6.343,\N,\N,EPS8L2
212261,11:725680:G>T,NM_022772.3:c.1561-48G>T,\N,\N,16/20,Unknown significance,\N,intron_variant,7.913,\N,\N,EPS8L2
212262,11:725714:G>T,NM_022772.3:c.1561-14G>T,\N,\N,16/20,Unknown significance,\N,intron_variant,6.305,\N,\N,EPS8L2
212263,11:725715:G>A,NM_022772.3:c.1561-13G>A,\N,\N,16/20,Unknown significance,\N,intron_variant,5.279,\N,\N,EPS8L2
212264,11:725720:C>T,NM_022772.3:c.1561-8C>T,\N,\N,16/20,Unknown significance,\N,splice_region_variant&intron_variant,6.138,\N,\N,EPS8L2
212265,11:725728:G>A,NM_022772.3:c.1561G>A,NP_073609.2:p.Val521Met,17/21,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.9,\N,\N,EPS8L2
212266,11:725743:C>G,NM_022772.3:c.1576C>G,NP_073609.2:p.Arg526Gly,17/21,\N,Benign,\N,missense_variant,32,0.00519031,EXAC_EAS_AF,EPS8L2
212267,11:725751:G>C,NM_022772.3:c.1584G>C,NP_073609.2:p.Trp528Cys,17/21,\N,Benign,\N,missense_variant,33,0.010101,EXAC_AMR_AF,EPS8L2
212268,11:725762:G>A,NM_022772.3:c.1595G>A,NP_073609.2:p.Arg532His,17/21,\N,Unknown significance,\N,missense_variant,34,\N,\N,EPS8L2
212269,11:725766:C>T,NM_022772.3:c.1599C>T,NP_073609.2:p.Ser533=,17/21,\N,Unknown significance,\N,synonymous_variant,17.02,\N,\N,EPS8L2
212270,11:725768:G>C,NM_022772.3:c.1601G>C,NP_073609.2:p.Arg534Pro,17/21,\N,Unknown significance,\N,missense_variant,28.1,0.001,1KG_EUR_AF,EPS8L2
212271,11:725768:G>T,NM_022772.3:c.1601G>T,NP_073609.2:p.Arg534Leu,17/21,\N,Unknown significance,\N,missense_variant,28.5,0.000660502,EXAC_EAS_AF,EPS8L2
212272,11:725772:C>T,NM_022772.3:c.1605C>T,NP_073609.2:p.Ser535=,17/21,\N,Unknown significance,\N,synonymous_variant,21.6,0.0014,1KG_AMR_AF,EPS8L2
212273,11:725776:C>G,NM_022772.3:c.1609C>G,NP_073609.2:p.Gln537Glu,17/21,\N,Benign,\N,missense_variant,23.8,0.00608519,EXAC_AMR_AF,EPS8L2
212274,11:725781:G>A,NM_022772.3:c.1614G>A,NP_073609.2:p.Ala538=,17/21,\N,Unknown significance,\N,synonymous_variant,15.46,0.000718391,EXAC_AMR_AF,EPS8L2
212275,11:725781:G>C,NM_022772.3:c.1614G>C,NP_073609.2:p.Ala538=,17/21,\N,Unknown significance,\N,synonymous_variant,13.3,0.0000743826,EXAC_NFE_AF,EPS8L2
212276,11:725788:G>A,NM_022772.3:c.1621G>A,NP_073609.2:p.Val541Met,17/21,\N,Unknown significance,\N,missense_variant,30,0.000485909,EXAC_AMR_AF,EPS8L2
212277,11:725788:G>C,NM_022772.3:c.1621G>C,NP_073609.2:p.Val541Leu,17/21,\N,Unknown significance,\N,missense_variant,28.6,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
212278,11:725790:G>T,NM_022772.3:c.1623G>T,NP_073609.2:p.Val541=,17/21,\N,Unknown significance,\N,synonymous_variant,9.329,\N,\N,EPS8L2
212279,11:725794:T>C,NM_022772.3:c.1627T>C,NP_073609.2:p.Cys543Arg,17/21,\N,Likely benign,\N,missense_variant,8.779,0.000295683,EXAC_EAS_AF,EPS8L2
212280,11:725796:C>A,NM_022772.3:c.1629C>A,NP_073609.2:p.Cys543Ter,17/21,\N,Unknown significance,\N,stop_gained,35,0.0000482905,EXAC_NFE_AF,EPS8L2
212281,11:725803:C>G,NM_022772.3:c.1636C>G,NP_073609.2:p.Leu546Val,17/21,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,EPS8L2
212282,11:725811:G>A,NM_022772.3:c.1644G>A,NP_073609.2:p.Glu548=,17/21,\N,Unknown significance,\N,synonymous_variant,5.662,0.000320718,EXAC_AMR_AF,EPS8L2
212283,11:725820:G>A,NM_022772.3:c.1653G>A,NP_073609.2:p.Pro551=,17/21,\N,Unknown significance,\N,synonymous_variant,9.797,\N,\N,EPS8L2
212284,11:725821:G>A,NM_022772.3:c.1654G>A,NP_073609.2:p.Glu552Lys,17/21,\N,Unknown significance,\N,missense_variant,18.79,0.0000393144,EXAC_NFE_AF,EPS8L2
212285,11:725824:G>A,NM_022772.3:c.1657G>A,NP_073609.2:p.Asp553Asn,17/21,\N,Unknown significance,\N,missense_variant,21.1,0.00116604,EXAC_NFE_AF,EPS8L2
212286,11:725829:C>T,NM_022772.3:c.1662C>T,NP_073609.2:p.Ala554=,17/21,\N,Unknown significance,\N,synonymous_variant,15.74,0.0000381796,EXAC_NFE_AF,EPS8L2
212287,11:725832:C>T,NM_022772.3:c.1665C>T,NP_073609.2:p.Gly555=,17/21,\N,Unknown significance,\N,synonymous_variant,16.1,0.000329164,EXAC_SAS_AF,EPS8L2
212288,11:725834:C>T,NM_022772.3:c.1667C>T,NP_073609.2:p.Ala556Val,17/21,\N,Likely benign,\N,missense_variant,11.26,\N,\N,EPS8L2
212289,11:725835:C>T,NM_022772.3:c.1668C>T,NP_073609.2:p.Ala556=,17/21,\N,Unknown significance,\N,synonymous_variant,14.76,0.000327869,EXAC_SAS_AF,EPS8L2
212290,11:725836:C>T,NM_022772.3:c.1669C>T,NP_073609.2:p.Pro557Ser,17/21,\N,Likely benign,\N,missense_variant,12.5,0.000644745,EXAC_AFR_AF,EPS8L2
212291,11:725838:G>A,NM_022772.3:c.1671G>A,NP_073609.2:p.Pro557=,17/21,\N,Unknown significance,\N,synonymous_variant,11.1,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
212292,11:725838:G>C,NM_022772.3:c.1671G>C,NP_073609.2:p.Pro557=,17/21,\N,Unknown significance,\N,synonymous_variant,11.1,0.000669344,EXAC_SAS_AF,EPS8L2
212293,11:725842:G>C,NM_022772.3:c.1675G>C,NP_073609.2:p.Glu559Gln,17/21,\N,Likely benign,\N,missense_variant,15.72,0.000657462,EXAC_AFR_AF,EPS8L2
212294,11:725844:G>A,NM_022772.3:c.1677G>A,NP_073609.2:p.Glu559=,17/21,\N,Unknown significance,\N,synonymous_variant,10.98,0.0000379651,EXAC_NFE_AF,EPS8L2
212295,11:725852:G>C,NM_022772.3:c.1680+5G>C,\N,\N,17/20,Unknown significance,\N,splice_region_variant&intron_variant,11.66,0.0014,1KG_AMR_AF,EPS8L2
212296,11:725857:C>CG,NM_022772.3:c.1680+15dup,\N,\N,17/20,Unknown significance,\N,intron_variant,15.84,0.00077821,EXAC_AMR_AF,EPS8L2
212297,11:725864:C>T,NM_022772.3:c.1680+17C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,12.45,0.0000777726,EXAC_NFE_AF,EPS8L2
212298,11:725865:C>T,NM_022772.3:c.1680+18C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,11.46,0.0017762,EXAC_AMR_AF,EPS8L2
212299,11:725871:G>A,NM_022772.3:c.1680+24G>A,\N,\N,17/20,Unknown significance,\N,intron_variant,5.557,0.00191571,EXAC_AMR_AF,EPS8L2
212300,11:725875:C>A,NM_022772.3:c.1680+28C>A,\N,\N,17/20,Unknown significance,\N,intron_variant,9.43,0.000875657,EXAC_NFE_AF,EPS8L2
212301,11:725877:G>GC,NM_022772.3:c.1680+35dup,\N,\N,17/20,Benign,\N,intron_variant,8.08,0.674061,EXAC_AMR_AF,EPS8L2
212302,11:725877:G>GCC,NM_022772.3:c.1680+34_1680+35dup,\N,\N,17/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212303,11:725882:C>CG,NM_022772.3:c.1680+35_1680+36insG,\N,\N,17/20,Unknown significance,\N,intron_variant,7.416,\N,\N,EPS8L2
212304,11:725894:GCAGCCCCGCCTGCGCCTAGCCCCGCCCCAAGGC>G,NM_022772.3:c.1680+57_1680+89del,\N,\N,17/20,Unknown significance,\N,intron_variant,1.895,\N,\N,EPS8L2
212305,11:725898:C>A,NM_022772.3:c.1680+51C>A,\N,\N,17/20,Unknown significance,\N,intron_variant,8.17,\N,\N,EPS8L2
212306,11:725906:G>C,NM_022772.3:c.1680+59G>C,\N,\N,17/20,Benign,\N,intron_variant,1.757,0.0061,1KG_AFR_AF,EPS8L2
212307,11:725937:G>T,NM_022772.3:c.1680+90G>T,\N,\N,17/20,Unknown significance,\N,intron_variant,0.193,0.0038,1KG_AFR_AF,EPS8L2
212308,11:725967:C>T,NM_022772.3:c.1680+120C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,7.096,\N,\N,EPS8L2
212309,11:726025:T>TG,NM_022772.3:c.1681-69dup,\N,\N,17/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212310,11:726031:G>A,NM_022772.3:c.1681-67G>A,\N,\N,17/20,Benign,\N,intron_variant,6.56,0.0696,1KG_AFR_AF,EPS8L2
212311,11:726047:T>C,NM_022772.3:c.1681-51T>C,\N,\N,17/20,Unknown significance,\N,intron_variant,7.177,0.000203459,EXAC_NFE_AF,EPS8L2
212312,11:726057:G>A,NM_022772.3:c.1681-41G>A,\N,\N,17/20,Unknown significance,\N,intron_variant,9.847,0.001,1KG_EUR_AF,EPS8L2
212313,11:726064:G>C,NM_022772.3:c.1681-34G>C,\N,\N,17/20,Unknown significance,\N,intron_variant,8.09,0.000263366,EXAC_SAS_AF,EPS8L2
212314,11:726068:G>C,NM_022772.3:c.1681-30G>C,\N,\N,17/20,Unknown significance,\N,intron_variant,6.22,\N,\N,EPS8L2
212315,11:726080:C>G,NM_022772.3:c.1681-18C>G,\N,\N,17/20,Unknown significance,\N,intron_variant,6.324,0.000486381,EXAC_AFR_AF,EPS8L2
212316,11:726080:C>T,NM_022772.3:c.1681-18C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,8.028,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EPS8L2
212317,11:726082:C>T,NM_022772.3:c.1681-16C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,7.314,\N,\N,EPS8L2
212318,11:726089:C>G,NM_022772.3:c.1681-9C>G,\N,\N,17/20,Unknown significance,\N,intron_variant,3.77,0.000270856,EXAC_EAS_AF,EPS8L2
212319,11:726089:C>T,NM_022772.3:c.1681-9C>T,\N,\N,17/20,Unknown significance,\N,intron_variant,6.191,0.0000396322,EXAC_NFE_AF,EPS8L2
212320,11:726090:C>T,NM_022772.3:c.1681-8C>T,\N,\N,17/20,Unknown significance,\N,splice_region_variant&intron_variant,8.638,0.000731163,EXAC_NFE_AF,EPS8L2
212321,11:726091:C>T,NM_022772.3:c.1681-7C>T,\N,\N,17/20,Unknown significance,\N,splice_region_variant&intron_variant,9.346,0.000037515,EXAC_NFE_AF,EPS8L2
212322,11:726101:G>C,NM_022772.3:c.1684G>C,NP_073609.2:p.Gly562Arg,18/21,\N,Likely benign,\N,missense_variant,0.494,0.000029746,EXAC_NFE_AF,EPS8L2
212323,11:726101:G>T,NM_022772.3:c.1684G>T,NP_073609.2:p.Gly562Cys,18/21,\N,Likely benign,\N,missense_variant,17.77,0.001,1KG_SAS_AF,EPS8L2
212324,11:726103:T>G,NM_022772.3:c.1686T>G,NP_073609.2:p.Gly562=,18/21,\N,Unknown significance,\N,synonymous_variant,1.669,0.000164366,EXAC_AMR_AF,EPS8L2
212325,11:726104:C>T,NM_022772.3:c.1687C>T,NP_073609.2:p.Gln563Ter,18/21,\N,Unknown significance,\N,stop_gained,35,0.000159693,EXAC_AMR_AF,EPS8L2
212326,11:726115:G>C,NM_022772.3:c.1698G>C,NP_073609.2:p.Trp566Cys,18/21,\N,Unknown significance,\N,missense_variant,23.7,0.000370096,EXAC_FIN_AF,EPS8L2
212327,11:726117:G>T,NM_022772.3:c.1700G>T,NP_073609.2:p.Gly567Val,18/21,\N,Unknown significance,\N,missense_variant,20.8,0.000195084,EXAC_AFR_AF,EPS8L2
212328,11:726118:C>T,NM_022772.3:c.1701C>T,NP_073609.2:p.Gly567=,18/21,\N,Unknown significance,\N,synonymous_variant,13.86,0.000305764,EXAC_SAS_AF,EPS8L2
212329,11:726130:G>A,NM_022772.3:c.1713G>A,NP_073609.2:p.Pro571=,18/21,\N,Unknown significance,\N,synonymous_variant,12.44,\N,\N,EPS8L2
212330,11:726131:A>C,NM_022772.3:c.1714A>C,NP_073609.2:p.Thr572Pro,18/21,\N,Likely benign,\N,missense_variant,13.24,\N,\N,EPS8L2
212331,11:726135:A>C,NM_022772.3:c.1718A>C,NP_073609.2:p.His573Pro,18/21,\N,Likely benign,\N,missense_variant,5.182,0.0000409366,EXAC_NFE_AF,EPS8L2
212332,11:726143:C>T,NM_022772.3:c.1726C>T,NP_073609.2:p.Pro576Ser,18/21,\N,Likely benign,\N,missense_variant,15.78,0.0000401897,EXAC_NFE_AF,EPS8L2
212333,11:726147:C>T,NM_022772.3:c.1730C>T,NP_073609.2:p.Pro577Leu,18/21,\N,Likely benign,\N,missense_variant,16.47,0.0000699496,EXAC_SAS_AF,EPS8L2
212334,11:726151:C>G,NM_022772.3:c.1734C>G,NP_073609.2:p.Ser578Arg,18/21,\N,Likely benign,\N,missense_variant,12.71,0.0008,1KG_AFR_AF,EPS8L2
212335,11:726158:G>A,NM_022772.3:c.1741G>A,NP_073609.2:p.Gly581Arg,18/21,\N,Unknown significance,\N,missense_variant,23.3,0.000256026,EXAC_NFE_AF,EPS8L2
212336,11:726160:G>C,NM_022772.3:c.1743G>C,NP_073609.2:p.Gly581=,18/21,\N,Unknown significance,\N,synonymous_variant,8.469,0.000136203,EXAC_EAS_AF,EPS8L2
212337,11:726165:A>G,NM_022772.3:c.1748A>G,NP_073609.2:p.Lys583Arg,18/21,\N,Likely benign,\N,missense_variant,15.93,0.000135833,EXAC_EAS_AF,EPS8L2
212338,11:726170:G>A,NM_022772.3:c.1753G>A,NP_073609.2:p.Glu585Lys,18/21,\N,Likely benign,\N,missense_variant&splice_region_variant,22.5,0.00150602,EXAC_OTH_AF,EPS8L2
212339,11:726177:G>C,NM_022772.3:c.1753+7G>C,\N,\N,18/20,Unknown significance,\N,splice_region_variant&intron_variant,3.625,0.002,1KG_EAS_AF,EPS8L2
212340,11:726178:G>C,NM_022772.3:c.1753+8G>C,\N,\N,18/20,Benign,\N,splice_region_variant&intron_variant,3.269,1,EXAC_EAS_AF|EXAC_FIN_AF|EXAC_OTH_AF|EXAC_SAS_AF|1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EPS8L2
212341,11:726178:G>T,NM_022772.3:c.1753+8G>T,\N,\N,18/20,Unknown significance,\N,splice_region_variant&intron_variant,4.459,0.000135943,EXAC_AFR_AF,EPS8L2
212342,11:726193:G>A,NM_022772.3:c.1753+23G>A,\N,\N,18/20,Benign,\N,intron_variant,7.025,0.295303,EXAC_AFR_AF,EPS8L2
212343,11:726195:G>A,NM_022772.3:c.1753+25G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,1.241,0.000127812,EVS_EA_AF,EPS8L2
212344,11:726196:G>C,NM_022772.3:c.1753+26G>C,\N,\N,18/20,Unknown significance,\N,intron_variant,2.491,\N,\N,EPS8L2
212345,11:726201:C>A,NM_022772.3:c.1753+31C>A,\N,\N,18/20,Unknown significance,\N,intron_variant,5.322,\N,\N,EPS8L2
212346,11:726204:G>A,NM_022772.3:c.1753+34G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,4.925,0.000133654,EVS_EA_AF,EPS8L2
212347,11:726215:C>T,NM_022772.3:c.1753+45C>T,\N,\N,18/20,Unknown significance,\N,intron_variant,5.481,0.000684346,EXAC_SAS_AF,EPS8L2
212348,11:726217:T>C,NM_022772.3:c.1753+47T>C,\N,\N,18/20,Unknown significance,\N,intron_variant,3.862,0.000232666,EXAC_AMR_AF,EPS8L2
212349,11:726221:G>T,NM_022772.3:c.1753+51G>T,\N,\N,18/20,Unknown significance,\N,intron_variant,4.589,0.0000727061,EXAC_NFE_AF,EPS8L2
212350,11:726231:TG>T,NM_022772.3:c.1754-65del,\N,\N,18/20,Benign,\N,intron_variant,2.641,0.0249,1KG_EUR_AF,EPS8L2
212351,11:726235:G>T,NM_022772.3:c.1753+65G>T,\N,\N,18/20,Unknown significance,\N,intron_variant,3.645,0.001,1KG_EAS_AF,EPS8L2
212352,11:726238:G>GC,NM_022772.3:c.1754-66_1754-65insC,\N,\N,18/20,Unknown significance,\N,intron_variant,\N,0.0031,1KG_SAS_AF,EPS8L2
212353,11:726238:G>T,NM_022772.3:c.1754-66G>T,\N,\N,18/20,Unknown significance,\N,intron_variant,4.916,0.001,1KG_SAS_AF,EPS8L2
212354,11:726254:G>A,NM_022772.3:c.1754-50G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,5.951,0.00428397,EXAC_FIN_AF,EPS8L2
212355,11:726255:C>T,NM_022772.3:c.1754-49C>T,\N,\N,18/20,Unknown significance,\N,intron_variant,8.858,0.000209922,EXAC_NFE_AF,EPS8L2
212356,11:726256:G>GGGGGCA,NM_022772.3:c.1754-41_1754-36dup,\N,\N,18/20,Unknown significance,\N,intron_variant,\N,\N,\N,EPS8L2
212357,11:726256:GGGGGCA>G,NM_022772.3:c.1754-41_1754-36del,\N,\N,18/20,Unknown significance,\N,intron_variant,8.252,\N,\N,EPS8L2
212358,11:726259:G>A,NM_022772.3:c.1754-45G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,1.235,0.000228311,EXAC_EAS_AF,EPS8L2
212359,11:726260:G>A,NM_022772.3:c.1754-44G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,5.86,\N,\N,EPS8L2
212360,11:726261:C>CA,NM_022772.3:c.1754-42dup,\N,\N,18/20,Unknown significance,\N,intron_variant,4.91,0.00003336,EXAC_NFE_AF,EPS8L2
212361,11:726266:G>A,NM_022772.3:c.1754-38G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,5.066,0.000232342,EXAC_AFR_AF,EPS8L2
212362,11:726279:G>A,NM_022772.3:c.1754-25G>A,\N,\N,18/20,Unknown significance,\N,intron_variant,8.612,0.0000909587,EXAC_SAS_AF,EPS8L2
212363,11:726280:G>T,NM_022772.3:c.1754-24G>T,\N,\N,18/20,Unknown significance,\N,intron_variant,6.282,\N,\N,EPS8L2
212364,11:726281:G>C,NM_022772.3:c.1754-23G>C,\N,\N,18/20,Unknown significance,\N,intron_variant,4.457,0.000209205,EXAC_EAS_AF,EPS8L2
212365,11:726291:C>A,NM_022772.3:c.1754-13C>A,\N,\N,18/20,Unknown significance,\N,intron_variant,11.41,0.000598563,EXAC_AMR_AF,EPS8L2
212366,11:726291:C>G,NM_022772.3:c.1754-13C>G,\N,\N,18/20,Unknown significance,\N,intron_variant,9.679,0.000056079,EXAC_NFE_AF,EPS8L2
212367,11:726291:C>T,NM_022772.3:c.1754-13C>T,\N,\N,18/20,Unknown significance,\N,intron_variant,11.02,0.00011854,EVS_EA_AF,EPS8L2
212368,11:726295:C>T,NM_022772.3:c.1754-9C>T,\N,\N,18/20,Unknown significance,\N,intron_variant,11.06,0.0000264592,EXAC_NFE_AF,EPS8L2
212369,11:726296:C>A,NM_022772.3:c.1754-8C>A,\N,\N,18/20,Unknown significance,\N,splice_region_variant&intron_variant,10.94,0.000169434,EXAC_SAS_AF,EPS8L2
212370,11:726301:C>A,NM_022772.3:c.1754-3C>A,\N,\N,18/20,Unknown significance,\N,splice_region_variant&intron_variant,15.22,\N,\N,EPS8L2
212371,11:726301:C>G,NM_022772.3:c.1754-3C>G,\N,\N,18/20,Unknown significance,\N,splice_region_variant&intron_variant,13.17,\N,\N,EPS8L2
212372,11:726302:A>C,NM_022772.3:c.1754-2A>C,\N,\N,18/20,Unknown significance,\N,splice_acceptor_variant,23,\N,\N,EPS8L2
212373,11:726302:A>T,NM_022772.3:c.1754-2A>T,\N,\N,18/20,Unknown significance,\N,splice_acceptor_variant,23,\N,\N,EPS8L2
212374,11:726302:AGAGCTCATGCAGCACATGGACGAGGTCAACGAC>A,NM_022772.3:c.1761_1793del,NP_073609.2:p.Met587_Leu597del,19/21,18/20,Unknown significance,\N,splice_acceptor_variant&coding_sequence_variant,35,\N,\N,EPS8L2
212375,11:726305:G>A,NM_022772.3:c.1755G>A,NP_073609.2:p.Glu585=,19/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.98,0.0000806062,EXAC_SAS_AF,EPS8L2
212376,11:726309:A>G,NM_022772.3:c.1759A>G,NP_073609.2:p.Met587Val,19/21,\N,Likely benign,\N,missense_variant,11.34,0.0018315,EXAC_OTH_AF,EPS8L2
212377,11:726311:G>A,NM_022772.3:c.1761G>A,NP_073609.2:p.Met587Ile,19/21,\N,Likely benign,\N,missense_variant,14.68,\N,\N,EPS8L2
212378,11:726317:C>T,NM_022772.3:c.1767C>T,NP_073609.2:p.His589=,19/21,\N,Unknown significance,\N,synonymous_variant,13.6,0.000356948,EXAC_NFE_AF,EPS8L2
212379,11:726318:A>G,NM_022772.3:c.1768A>G,NP_073609.2:p.Met590Val,19/21,\N,Unknown significance,\N,missense_variant,22.8,0.0000208212,EXAC_NFE_AF,EPS8L2
212380,11:726326:G>A,NM_022772.3:c.1776G>A,NP_073609.2:p.Glu592=,19/21,\N,Unknown significance,\N,synonymous_variant,12.43,0.000019802,EXAC_NFE_AF,EPS8L2
212381,11:726327:G>GTCAACGACGAGC,NM_022772.3:c.1781_1792dup,NP_073609.2:p.Asn594_Leu597dup,19/21,\N,Unknown significance,\N,inframe_insertion,14.48,\N,\N,EPS8L2
212382,11:726333:G>A,NM_022772.3:c.1783G>A,NP_073609.2:p.Asp595Asn,19/21,\N,Likely benign,\N,missense_variant,24.9,0.001,1KG_EAS_AF|1KG_SAS_AF,EPS8L2
212383,11:726336:G>C,NM_022772.3:c.1786G>C,NP_073609.2:p.Glu596Gln,19/21,\N,Unknown significance,\N,missense_variant,29.5,0.000116604,EVS_EA_AF,EPS8L2
212384,11:726342:A>T,NM_022772.3:c.1792A>T,NP_073609.2:p.Ile598Phe,19/21,\N,Likely benign,\N,missense_variant,10.75,0.000393908,EXAC_AFR_AF,EPS8L2
212385,11:726343:T>C,NM_022772.3:c.1793T>C,NP_073609.2:p.Ile598Thr,19/21,\N,Likely benign,\N,missense_variant,12.42,0.0000184788,EXAC_NFE_AF,EPS8L2
212386,11:726345:C>G,NM_022772.3:c.1795C>G,NP_073609.2:p.Arg599Gly,19/21,\N,Likely benign,\N,missense_variant,15.73,0.000018425,EXAC_NFE_AF,EPS8L2
212387,11:726361:T>A,NM_022772.3:c.1811T>A,NP_073609.2:p.Ile604Asn,19/21,\N,Likely benign,\N,missense_variant,12.15,0.000355771,EXAC_SAS_AF,EPS8L2
212388,11:726372:C>T,NM_022772.3:c.1822C>T,NP_073609.2:p.Pro608Ser,19/21,\N,Likely benign,\N,missense_variant,23,0.0000756773,EXAC_NFE_AF,EPS8L2
212389,11:726375:C>G,NM_022772.3:c.1825C>G,NP_073609.2:p.Gln609Glu,19/21,\N,Likely benign,\N,missense_variant,5.366,0.000136537,EXAC_AFR_AF,EPS8L2
212390,11:726386:C>T,NM_022772.3:c.1836C>T,NP_073609.2:p.Phe612=,19/21,\N,Unknown significance,\N,synonymous_variant,16.52,0.000150308,EXAC_SAS_AF,EPS8L2
212391,11:726389:C>T,NM_022772.3:c.1839C>T,NP_073609.2:p.Arg613=,19/21,\N,Unknown significance,\N,synonymous_variant,21.4,0.000151309,EXAC_SAS_AF,EPS8L2
212392,11:726390:G>A,NM_022772.3:c.1840G>A,NP_073609.2:p.Val614Met,19/21,\N,Unknown significance,\N,missense_variant,22.3,0.0000416736,EXAC_NFE_AF,EPS8L2
212393,11:726401:C>G,NM_022772.3:c.1851C>G,NP_073609.2:p.Ser617Arg,19/21,\N,Likely benign,\N,missense_variant,18.57,0.000239732,EXAC_SAS_AF,EPS8L2
212394,11:726406:C>A,NM_022772.3:c.1856C>A,NP_073609.2:p.Pro619His,19/21,\N,Likely benign,\N,missense_variant,19.19,0.000231696,EVS_AA_AF,EPS8L2
212395,11:726407:C>A,NM_022772.3:c.1857C>A,NP_073609.2:p.Pro619=,19/21,\N,Unknown significance,\N,synonymous_variant,20.8,0.000082672,EXAC_SAS_AF,EPS8L2
212396,11:726407:C>T,NM_022772.3:c.1857C>T,NP_073609.2:p.Pro619=,19/21,\N,Unknown significance,\N,synonymous_variant,18.18,0.000182482,EXAC_EAS_AF,EPS8L2
212397,11:726412:G>C,NM_022772.3:c.1862G>C,NP_073609.2:p.Ser621Thr,19/21,\N,Likely benign,\N,missense_variant,3.721,0.000180115,EXAC_AMR_AF,EPS8L2
212398,11:726415:A>T,NM_022772.3:c.1865A>T,NP_073609.2:p.Gln622Leu,19/21,\N,Likely benign,\N,missense_variant,6.471,0.0000255702,EXAC_NFE_AF,EPS8L2
212399,11:726425:C>T,NM_022772.3:c.1875C>T,NP_073609.2:p.Thr625=,19/21,\N,Unknown significance,\N,synonymous_variant,15.64,0.000203169,EXAC_AFR_AF,EPS8L2
212400,11:726427:A>G,NM_022772.3:c.1877A>G,NP_073609.2:p.Tyr626Cys,19/21,\N,Unknown significance,\N,missense_variant,22.8,0.000223414,EXAC_EAS_AF,EPS8L2
212401,11:726428:C>T,NM_022772.3:c.1878C>T,NP_073609.2:p.Tyr626=,19/21,\N,Unknown significance,\N,synonymous_variant,14.73,0.000030756,EXAC_NFE_AF,EPS8L2
212402,11:726432:T>TCGGGTCCGGACGAGGTC,NM_022772.3:c.1885_1901dup,NP_073609.2:p.Ala635ValfsTer25,19/21,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,EPS8L2
212403,11:726435:G>A,NM_022772.3:c.1885G>A,NP_073609.2:p.Gly629Ser,19/21,\N,Likely benign,\N,missense_variant,5.163,0.0000961538,EXAC_SAS_AF,EPS8L2
212404,11:726437:T>A,NM_022772.3:c.1887T>A,NP_073609.2:p.Gly629=,19/21,\N,Unknown significance,\N,synonymous_variant,6.699,0.000236407,EXAC_AFR_AF,EPS8L2
212405,11:726437:T>C,NM_022772.3:c.1887T>C,NP_073609.2:p.Gly629=,19/21,\N,Unknown significance,\N,synonymous_variant,0.622,0.000388425,EXAC_SAS_AF,EPS8L2
212406,11:726440:G>A,NM_022772.3:c.1890G>A,NP_073609.2:p.Pro630=,19/21,\N,Unknown significance,\N,synonymous_variant,13.14,0.0014,1KG_AMR_AF,EPS8L2
212407,11:726443:C>G,NM_022772.3:c.1893C>G,NP_073609.2:p.Asp631Glu,19/21,\N,Likely benign,\N,missense_variant,6.71,0.0000397962,EXAC_NFE_AF,EPS8L2
212408,11:726446:G>A,NM_022772.3:c.1896G>A,NP_073609.2:p.Glu632=,19/21,\N,Unknown significance,\N,synonymous_variant,12.13,0.000892061,EXAC_NFE_AF,EPS8L2
212409,11:726466:C>T,NM_022772.3:c.1916C>T,NP_073609.2:p.Ala639Val,19/21,\N,Unknown significance,\N,missense_variant,33,0.000120453,EXAC_SAS_AF,EPS8L2
212410,11:726467:C>A,NM_022772.3:c.1917C>A,NP_073609.2:p.Ala639=,19/21,\N,Unknown significance,\N,synonymous_variant,15.03,0.00106496,EXAC_EAS_AF,EPS8L2
212411,11:726469:A>G,NM_022772.3:c.1919A>G,NP_073609.2:p.Lys640Arg,19/21,\N,Unknown significance,\N,missense_variant,26.1,0.0004914,EXAC_SAS_AF,EPS8L2
212412,11:726469:A>T,NM_022772.3:c.1919A>T,NP_073609.2:p.Lys640Met,19/21,\N,Unknown significance,\N,missense_variant,27,0.000065937,EXAC_NFE_AF,EPS8L2
212413,11:726471:G>T,NM_022772.3:c.1921G>T,NP_073609.2:p.Ala641Ser,19/21,\N,Likely benign,\N,missense_variant,19.56,0.00387597,EXAC_FIN_AF,EPS8L2
212414,11:726487:G>A,NM_022772.3:c.1934+3G>A,\N,\N,19/20,Unknown significance,\N,splice_region_variant&intron_variant,14.44,\N,\N,EPS8L2
212415,11:726489:G>GCGGGGGCGGGGGATGAGCT,NM_022772.3:c.1934+6_1934+24dup,\N,\N,19/20,Unknown significance,\N,splice_region_variant&intron_variant,15,\N,\N,EPS8L2
212416,11:726495:G>A,NM_022772.3:c.1934+11G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,15.65,\N,\N,EPS8L2
212417,11:726499:G>A,NM_022772.3:c.1934+15G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,8.558,\N,\N,EPS8L2
212418,11:726505:A>G,NM_022772.3:c.1934+21A>G,\N,\N,19/20,Unknown significance,\N,intron_variant,6.563,0.000201126,EXAC_SAS_AF,EPS8L2
212419,11:726506:G>A,NM_022772.3:c.1934+22G>A,\N,\N,19/20,Benign,\N,intron_variant,7.187,0.0703364,EXAC_AFR_AF,EPS8L2
212420,11:726512:G>A,NM_022772.3:c.1934+28G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,1.625,\N,\N,EPS8L2
212421,11:726514:C>G,NM_022772.3:c.1934+30C>G,\N,\N,19/20,Benign,\N,intron_variant,4.761,0.0185185,EXAC_EAS_AF,EPS8L2
212422,11:726515:C>T,NM_022772.3:c.1934+31C>T,\N,\N,19/20,Unknown significance,\N,intron_variant,7.63,\N,\N,EPS8L2
212423,11:726519:C>T,NM_022772.3:c.1934+35C>T,\N,\N,19/20,Unknown significance,\N,intron_variant,5.41,\N,\N,EPS8L2
212424,11:726520:G>A,NM_022772.3:c.1934+36G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,6.52,\N,\N,EPS8L2
212425,11:726526:T>C,NM_022772.3:c.1934+42T>C,\N,\N,19/20,Unknown significance,\N,intron_variant,7.461,\N,\N,EPS8L2
212426,11:726528:G>A,NM_022772.3:c.1934+44G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,8.258,0.001,1KG_EUR_AF,EPS8L2
212427,11:726535:C>G,NM_022772.3:c.1934+51C>G,\N,\N,19/20,Unknown significance,\N,intron_variant,7.994,0.00031746,EXAC_SAS_AF,EPS8L2
212428,11:726549:C>T,NM_022772.3:c.1934+65C>T,\N,\N,19/20,Unknown significance,\N,intron_variant,9.127,0.002,1KG_EUR_AF,EPS8L2
212429,11:726552:C>G,NM_022772.3:c.1935-67C>G,\N,\N,19/20,Unknown significance,\N,intron_variant,5.242,\N,\N,EPS8L2
212430,11:726566:G>C,NM_022772.3:c.1935-53G>C,\N,\N,19/20,Unknown significance,\N,intron_variant,0.296,0.002,1KG_EAS_AF,EPS8L2
212431,11:726568:C>T,NM_022772.3:c.1935-51C>T,\N,\N,19/20,Unknown significance,\N,intron_variant,6.699,\N,\N,EPS8L2
212432,11:726581:T>C,NM_022772.3:c.1935-38T>C,\N,\N,19/20,Benign,\N,intron_variant,4.736,0.522267,EXAC_AFR_AF,EPS8L2
212433,11:726590:G>A,NM_022772.3:c.1935-29G>A,\N,\N,19/20,Benign,\N,intron_variant,8.69,0.00561798,EXAC_AMR_AF,EPS8L2
212434,11:726599:G>A,NM_022772.3:c.1935-20G>A,\N,\N,19/20,Unknown significance,\N,intron_variant,9.301,\N,\N,EPS8L2
212435,11:726604:A>G,NM_022772.3:c.1935-15A>G,\N,\N,19/20,Unknown significance,\N,intron_variant,7.029,0.002,1KG_SAS_AF,EPS8L2
212436,11:726609:C>T,NM_022772.3:c.1935-10C>T,\N,\N,19/20,Unknown significance,\N,intron_variant,9.74,0.001,1KG_SAS_AF,EPS8L2
212437,11:726611:G>A,NM_022772.3:c.1935-8G>A,\N,\N,19/20,Benign,\N,splice_region_variant&intron_variant,6.679,0.006,1KG_EAS_AF,EPS8L2
212438,11:726615:C>A,NM_022772.3:c.1935-4C>A,\N,\N,19/20,Benign,\N,splice_region_variant&intron_variant,13.69,0.0528302,EXAC_EAS_AF,EPS8L2
212439,11:726615:C>T,NM_022772.3:c.1935-4C>T,\N,\N,19/20,Unknown significance,\N,splice_region_variant&intron_variant,13.4,0.000217202,EXAC_NFE_AF,EPS8L2
212440,11:726623:G>T,NM_022772.3:c.1939G>T,NP_073609.2:p.Val647Leu,20/21,\N,Unknown significance,\N,missense_variant,29.5,\N,\N,EPS8L2
212441,11:726634:G>A,NM_022772.3:c.1950G>A,NP_073609.2:p.Leu650=,20/21,\N,Unknown significance,\N,synonymous_variant,11.2,0.00011936,EVS_EA_AF,EPS8L2
212442,11:726647:G>A,NM_022772.3:c.1963G>A,NP_073609.2:p.Gly655Arg,20/21,\N,Unknown significance,\N,missense_variant,28.9,0.00013089,EXAC_SAS_AF,EPS8L2
212443,11:726652:G>C,NM_022772.3:c.1968G>C,NP_073609.2:p.Pro656=,20/21,\N,Unknown significance,\N,synonymous_variant,13.41,\N,\N,EPS8L2
212444,11:726658:C>G,NM_022772.3:c.1974C>G,NP_073609.2:p.Leu658=,20/21,\N,Unknown significance,\N,synonymous_variant,15.24,0.00234742,EXAC_AMR_AF,EPS8L2
212445,11:726663:C>A,NM_022772.3:c.1979C>A,NP_073609.2:p.Ser660Tyr,20/21,\N,Unknown significance,\N,missense_variant,29.6,\N,\N,EPS8L2
212446,11:726665:C>A,NM_022772.3:c.1981C>A,NP_073609.2:p.Leu661Ile,20/21,\N,Unknown significance,\N,missense_variant,31,\N,\N,EPS8L2
212447,11:726665:C>T,NM_022772.3:c.1981C>T,NP_073609.2:p.Leu661Phe,20/21,\N,Unknown significance,\N,missense_variant,29.8,\N,\N,EPS8L2
212448,11:726670:CAAG>C,NM_022772.3:c.1987_1989del,NP_073609.2:p.Lys663del,20/21,\N,Unknown significance,\N,inframe_deletion,23,\N,\N,EPS8L2
212449,11:726676:G>A,NM_022772.3:c.1992G>A,NP_073609.2:p.Glu664=,20/21,\N,Unknown significance,\N,synonymous_variant,12.28,0.000326158,EXAC_AFR_AF,EPS8L2
212450,11:726678:A>G,NM_022772.3:c.1994A>G,NP_073609.2:p.Glu665Gly,20/21,\N,Unknown significance,\N,missense_variant,29.3,0.00137363,EXAC_AMR_AF,EPS8L2
212451,11:726685:G>A,NM_022772.3:c.2001G>A,NP_073609.2:p.Lys667=,20/21,\N,Unknown significance,\N,synonymous_variant,14.64,\N,\N,EPS8L2
212452,11:726685:G>C,NM_022772.3:c.2001G>C,NP_073609.2:p.Lys667Asn,20/21,\N,Unknown significance,\N,missense_variant,27.1,0.001,1KG_EAS_AF,EPS8L2
212453,11:726687:A>T,NM_022772.3:c.2003A>T,NP_073609.2:p.Lys668Ile,20/21,\N,Unknown significance,\N,missense_variant,24.1,0.0000690799,EXAC_NFE_AF,EPS8L2
212454,11:726692:T>A,NM_022772.3:c.2008T>A,NP_073609.2:p.Cys670Ser,20/21,\N,Unknown significance,\N,missense_variant,24,\N,\N,EPS8L2
212455,11:726694:C>T,NM_022772.3:c.2010C>T,NP_073609.2:p.Cys670=,20/21,\N,Unknown significance,\N,synonymous_variant,19.4,0.000129584,EXAC_NFE_AF,EPS8L2
212456,11:726697:C>A,NM_022772.3:c.2013C>A,NP_073609.2:p.Gly671=,20/21,\N,Unknown significance,\N,synonymous_variant,21.2,0.000115393,EXAC_SAS_AF,EPS8L2
212457,11:726698:G>A,NM_022772.3:c.2014G>A,NP_073609.2:p.Glu672Lys,20/21,\N,Unknown significance,\N,missense_variant,32,\N,\N,EPS8L2
212458,11:726701:G>A,NM_022772.3:c.2017G>A,NP_073609.2:p.Glu673Lys,20/21,\N,Unknown significance,\N,missense_variant,33,0.0000564462,EXAC_NFE_AF,EPS8L2
212459,11:726703:G>A,NM_022772.3:c.2019G>A,NP_073609.2:p.Glu673=,20/21,\N,Unknown significance,\N,synonymous_variant,11.81,\N,\N,EPS8L2
212460,11:726711:G>T,NM_022772.3:c.2027G>T,NP_073609.2:p.Arg676Leu,20/21,\N,Unknown significance,\N,missense_variant,33,\N,\N,EPS8L2
212461,11:726712:C>A,NM_022772.3:c.2028C>A,NP_073609.2:p.Arg676=,20/21,\N,Unknown significance,\N,synonymous_variant,22.8,0.0000492951,EXAC_NFE_AF,EPS8L2
212462,11:726712:C>T,NM_022772.3:c.2028C>T,NP_073609.2:p.Arg676=,20/21,\N,Unknown significance,\N,synonymous_variant,21.7,0.0000492951,EXAC_NFE_AF,EPS8L2
212463,11:726713:G>A,NM_022772.3:c.2029G>A,NP_073609.2:p.Val677Met,20/21,\N,Unknown significance,\N,missense_variant,29.6,0.0000968898,EXAC_NFE_AF,EPS8L2
212464,11:726715:G>T,NM_022772.3:c.2031G>T,NP_073609.2:p.Val677=,20/21,\N,Unknown significance,\N,synonymous_variant,12.45,0.001,1KG_SAS_AF,EPS8L2
212465,11:726718:C>T,NM_022772.3:c.2034C>T,NP_073609.2:p.Tyr678=,20/21,\N,Unknown significance,\N,synonymous_variant,11.77,\N,\N,EPS8L2
212466,11:726721:C>G,NM_022772.3:c.2037C>G,NP_073609.2:p.Ser679Arg,20/21,\N,Unknown significance,\N,missense_variant,28,\N,\N,EPS8L2
212467,11:726724:G>C,NM_022772.3:c.2040G>C,NP_073609.2:p.Gln680His,20/21,\N,Unknown significance,\N,missense_variant,25.6,0.000134638,EXAC_NFE_AF,EPS8L2
212468,11:726725:C>A,NM_022772.3:c.2041C>A,NP_073609.2:p.Leu681Ile,20/21,\N,Likely benign,\N,missense_variant,15.26,0.001,1KG_EUR_AF,EPS8L2
212469,11:726727:C>T,NM_022772.3:c.2043C>T,NP_073609.2:p.Leu681=,20/21,\N,Unknown significance,\N,synonymous_variant,13.92,0.000228206,EVS_AA_AF,EPS8L2
212470,11:726728:A>T,NM_022772.3:c.2044A>T,NP_073609.2:p.Thr682Ser,20/21,\N,Unknown significance,\N,missense_variant,15.87,0.000233155,EVS_EA_AF,EPS8L2
212471,11:726732:T>C,NM_022772.3:c.2048T>C,NP_073609.2:p.Met683Thr,20/21,\N,Unknown significance,\N,missense_variant,23.2,0.000116523,EVS_EA_AF,EPS8L2
212472,11:726735:A>G,NM_022772.3:c.2051A>G,NP_073609.2:p.Gln684Arg,20/21,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,EPS8L2
212473,11:726736:G>A,NM_022772.3:c.2052G>A,NP_073609.2:p.Gln684=,20/21,\N,Unknown significance,\N,synonymous_variant,11.24,0.0000429849,EXAC_NFE_AF,EPS8L2
212474,11:726737:A>C,NM_022772.3:c.2053A>C,NP_073609.2:p.Lys685Gln,20/21,\N,Unknown significance,\N,missense_variant,27.3,0.000540541,EXAC_EAS_AF,EPS8L2
212475,11:726737:A>G,NM_022772.3:c.2053A>G,NP_073609.2:p.Lys685Glu,20/21,\N,Unknown significance,\N,missense_variant,29.9,0.000385505,EXAC_NFE_AF,EPS8L2
212476,11:726738:A>C,NM_022772.3:c.2054A>C,NP_073609.2:p.Lys685Thr,20/21,\N,Unknown significance,\N,missense_variant,29,0.000387163,EXAC_NFE_AF,EPS8L2
212477,11:726741:C>T,NM_022772.3:c.2057C>T,NP_073609.2:p.Ala686Val,20/21,\N,Likely benign,\N,missense_variant,24.7,0.001,1KG_EAS_AF,EPS8L2
212478,11:726742:C>T,NM_022772.3:c.2058C>T,NP_073609.2:p.Ala686=,20/21,\N,Unknown significance,\N,synonymous_variant,16.81,0.0014,1KG_AMR_AF,EPS8L2
212479,11:726747:T>C,NM_022772.3:c.2063T>C,NP_073609.2:p.Leu688Pro,20/21,\N,Unknown significance,\N,missense_variant,29.5,0.0008,1KG_AFR_AF,EPS8L2
212480,11:726751:G>A,NM_022772.3:c.2067G>A,NP_073609.2:p.Glu689=,20/21,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.09,\N,\N,EPS8L2
212481,11:726754:G>C,NM_022772.3:c.2067+3G>C,\N,\N,20/20,Unknown significance,\N,splice_region_variant&intron_variant,14.14,0.000117041,EVS_EA_AF,EPS8L2
212482,11:726757:C>T,NM_022772.3:c.2067+6C>T,\N,\N,20/20,Unknown significance,\N,splice_region_variant&intron_variant,13.68,0.0000453186,EXAC_NFE_AF,EPS8L2
212483,11:726758:C>T,NM_022772.3:c.2067+7C>T,\N,\N,20/20,Unknown significance,\N,splice_region_variant&intron_variant,12.43,0.001,1KG_EAS_AF,EPS8L2
212484,11:726760:G>A,NM_022772.3:c.2067+9G>A,\N,\N,20/20,Unknown significance,\N,intron_variant,13.52,0.00106724,EXAC_AMR_AF,EPS8L2
212485,11:726760:G>T,NM_022772.3:c.2067+9G>T,\N,\N,20/20,Unknown significance,\N,intron_variant,12.56,0.000109361,EXAC_SAS_AF,EPS8L2
212486,11:726761:C>T,NM_022772.3:c.2067+10C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,13.35,\N,\N,EPS8L2
212487,11:726764:G>A,NM_022772.3:c.2067+13G>A,\N,\N,20/20,Benign,\N,intron_variant,10.99,0.00687758,EXAC_AFR_AF,EPS8L2
212488,11:726767:C>G,NM_022772.3:c.2067+16C>G,\N,\N,20/20,Unknown significance,\N,intron_variant,7.809,0.000281215,EXAC_EAS_AF,EPS8L2
212489,11:726770:C>T,NM_022772.3:c.2067+19C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,9.19,\N,\N,EPS8L2
212490,11:726771:G>A,NM_022772.3:c.2067+20G>A,\N,\N,20/20,Unknown significance,\N,intron_variant,5.119,0.0014,1KG_AMR_AF,EPS8L2
212491,11:726773:C>T,NM_022772.3:c.2067+22C>T,\N,\N,20/20,Benign,\N,intron_variant,4.428,0.00806916,EXAC_EAS_AF,EPS8L2
212492,11:726780:C>A,NM_022772.3:c.2067+29C>A,\N,\N,20/20,Unknown significance,\N,intron_variant,8.207,0.001,1KG_SAS_AF,EPS8L2
212493,11:726782:C>T,NM_022772.3:c.2067+31C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,8.245,0.000241663,EXAC_AFR_AF,EPS8L2
212494,11:726783:C>T,NM_022772.3:c.2067+32C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,7.432,\N,\N,EPS8L2
212495,11:726784:TC>T,NM_022772.3:c.2067+35del,\N,\N,20/20,Unknown significance,\N,intron_variant,5.117,0.000291715,EXAC_EAS_AF,EPS8L2
212496,11:726787:T>A,NM_022772.3:c.2067+36T>A,\N,\N,20/20,Unknown significance,\N,intron_variant,6.411,\N,\N,EPS8L2
212497,11:726795:C>T,NM_022772.3:c.2067+44C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,8.373,0.0000933794,EXAC_NFE_AF,EPS8L2
212498,11:726797:C>T,NM_022772.3:c.2067+46C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,7.594,\N,\N,EPS8L2
212499,11:726798:C>T,NM_022772.3:c.2067+47C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,8.07,0.0000459855,EXAC_NFE_AF,EPS8L2
212500,11:726799:C>T,NM_022772.3:c.2067+48C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,7.823,\N,\N,EPS8L2
212501,11:726803:T>C,NM_022772.3:c.2067+52T>C,\N,\N,20/20,Unknown significance,\N,intron_variant,0.848,0.001,1KG_SAS_AF,EPS8L2
212502,11:726806:C>A,NM_022772.3:c.2067+55C>A,\N,\N,20/20,Unknown significance,\N,intron_variant,7.238,0.0014,1KG_AMR_AF,EPS8L2
212503,11:726813:C>T,NM_022772.3:c.2067+62C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,7.558,\N,\N,EPS8L2
212504,11:726814:C>G,NM_022772.3:c.2067+63C>G,\N,\N,20/20,Benign,\N,intron_variant,6.188,0.4917,1KG_AFR_AF,EPS8L2
212505,11:726824:G>A,NM_022772.3:c.2067+73G>A,\N,\N,20/20,Benign,\N,intron_variant,6.665,0.0346,1KG_AMR_AF,EPS8L2
212506,11:726835:A>C,NM_022772.3:c.2068-66A>C,\N,\N,20/20,Unknown significance,\N,intron_variant,1.144,\N,\N,EPS8L2
212507,11:726840:G>T,NM_022772.3:c.2068-61G>T,\N,\N,20/20,Unknown significance,\N,intron_variant,3.625,\N,\N,EPS8L2
212508,11:726846:G>A,NM_022772.3:c.2068-55G>A,\N,\N,20/20,Benign,\N,intron_variant,5.52,0.0278,1KG_EUR_AF,EPS8L2
212509,11:726852:CA>C,NM_022772.3:c.2068-48del,\N,\N,20/20,Unknown significance,\N,intron_variant,4.346,0.0000202684,EXAC_NFE_AF,EPS8L2
212510,11:726854:G>T,NM_022772.3:c.2068-47G>T,\N,\N,20/20,Unknown significance,\N,intron_variant,7.919,0.0000202077,EXAC_NFE_AF,EPS8L2
212511,11:726857:AC>A,NM_022772.3:c.2068-43del,\N,\N,20/20,Unknown significance,\N,intron_variant,1.787,0.000130174,EXAC_AFR_AF,EPS8L2
212512,11:726867:C>G,NM_022772.3:c.2068-34C>G,\N,\N,20/20,Unknown significance,\N,intron_variant,8.654,0.00148368,EXAC_OTH_AF,EPS8L2
212513,11:726869:C>T,NM_022772.3:c.2068-32C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,3.617,0.0000199314,EXAC_NFE_AF,EPS8L2
212514,11:726870:G>A,NM_022772.3:c.2068-31G>A,\N,\N,20/20,Unknown significance,\N,intron_variant,9.554,0.0000197777,EXAC_NFE_AF,EPS8L2
212515,11:726882:C>A,NM_022772.3:c.2068-19C>A,\N,\N,20/20,Unknown significance,\N,intron_variant,9.707,0.001,1KG_EUR_AF,EPS8L2
212516,11:726886:A>G,NM_022772.3:c.2068-15A>G,\N,\N,20/20,Unknown significance,\N,intron_variant,2.475,0.000228624,EXAC_AMR_AF,EPS8L2
212517,11:726889:T>C,NM_022772.3:c.2068-12T>C,\N,\N,20/20,Unknown significance,\N,intron_variant,5.428,0.000227169,EVS_AA_AF,EPS8L2
212518,11:726892:C>T,NM_022772.3:c.2068-9C>T,\N,\N,20/20,Unknown significance,\N,intron_variant,10.06,0.0000710328,EXAC_SAS_AF,EPS8L2
212519,11:726893:C>T,NM_022772.3:c.2068-8C>T,\N,\N,20/20,Unknown significance,\N,splice_region_variant&intron_variant,9.344,0.0000179656,EXAC_NFE_AF,EPS8L2
212520,11:726895:C>T,NM_022772.3:c.2068-6C>T,\N,\N,20/20,Unknown significance,\N,splice_region_variant&intron_variant,10.56,0.0000889173,EXAC_NFE_AF,EPS8L2
212521,11:726912:T>C,NM_022772.3:c.2079T>C,NP_073609.2:p.Ser693=,21/21,\N,Unknown significance,\N,synonymous_variant,7.437,\N,\N,EPS8L2
212522,11:726915:G>A,NM_022772.3:c.2082G>A,NP_073609.2:p.Gly694=,21/21,\N,Unknown significance,\N,synonymous_variant,12.88,0.0000164723,EXAC_NFE_AF,EPS8L2
212523,11:726916:T>A,NM_022772.3:c.2083T>A,NP_073609.2:p.Ser695Thr,21/21,\N,Unknown significance,\N,missense_variant,21.4,0.0000328861,EXAC_NFE_AF,EPS8L2
212524,11:726918:G>A,NM_022772.3:c.2085G>A,NP_073609.2:p.Ser695=,21/21,\N,Unknown significance,\N,synonymous_variant,14.47,0.000454133,EVS_AA_AF,EPS8L2
212525,11:726936:G>C,NM_022772.3:c.2103G>C,NP_073609.2:p.Met701Ile,21/21,\N,Unknown significance,\N,missense_variant,24,0.000119474,EXAC_EAS_AF,EPS8L2
212526,11:726942:G>A,NM_022772.3:c.2109G>A,NP_073609.2:p.Lys703=,21/21,\N,Unknown significance,\N,synonymous_variant,14.24,0.00121359,EXAC_OTH_AF,EPS8L2
212527,11:726946:C>A,NM_022772.3:c.2113C>A,NP_073609.2:p.His705Asn,21/21,\N,Unknown significance,\N,missense_variant,23.1,0.000227066,EVS_AA_AF,EPS8L2
212528,11:726952:A>G,NM_022772.3:c.2119A>G,NP_073609.2:p.Met707Val,21/21,\N,Likely benign,\N,missense_variant,15.9,0.0000160886,EXAC_NFE_AF,EPS8L2
212529,11:726952:A>T,NM_022772.3:c.2119A>T,NP_073609.2:p.Met707Leu,21/21,\N,Likely benign,\N,missense_variant,19.47,\N,\N,EPS8L2
212530,11:726955:A>T,NM_022772.3:c.2122A>T,NP_073609.2:p.Asn708Tyr,21/21,\N,Unknown significance,\N,missense_variant,19.57,0.0000657462,EXAC_SAS_AF,EPS8L2
212531,11:726957:T>C,NM_022772.3:c.2124T>C,NP_073609.2:p.Asn708=,21/21,\N,Unknown significance,\N,synonymous_variant,4.391,\N,\N,EPS8L2
212532,11:726962:G>A,NM_022772.3:c.2129G>A,NP_073609.2:p.Arg710Lys,21/21,\N,Unknown significance,\N,missense_variant,16.69,0.0000162559,EXAC_NFE_AF,EPS8L2
212533,11:726965:G>A,NM_022772.3:c.2132G>A,NP_073609.2:p.Arg711Lys,21/21,\N,Likely benign,\N,missense_variant,12.4,0.0000325235,EXAC_NFE_AF,EPS8L2
212534,11:726965:G>C,NM_022772.3:c.2132G>C,NP_073609.2:p.Arg711Thr,21/21,\N,Unknown significance,\N,missense_variant,11.82,0.0000162617,EXAC_NFE_AF,EPS8L2
212535,11:726965:G>T,NM_022772.3:c.2132G>T,NP_073609.2:p.Arg711Met,21/21,\N,Benign,\N,missense_variant,24,0.00556218,EXAC_SAS_AF,EPS8L2
212536,11:726966:G>A,NM_022772.3:c.2133G>A,NP_073609.2:p.Arg711=,21/21,\N,Unknown significance,\N,synonymous_variant,8.718,0.000120598,EXAC_EAS_AF,EPS8L2
212537,11:726966:G>C,NM_022772.3:c.2133G>C,NP_073609.2:p.Arg711Ser,21/21,\N,Unknown significance,\N,missense_variant,10.77,0.000320513,EXAC_AFR_AF,EPS8L2
212538,11:726966:G>T,NM_022772.3:c.2133G>T,NP_073609.2:p.Arg711Ser,21/21,\N,Unknown significance,\N,missense_variant,11.28,0.000120598,EXAC_EAS_AF,EPS8L2
212539,11:726967:G>A,NM_022772.3:c.2134G>A,NP_073609.2:p.Gly712Arg,21/21,\N,Likely benign,\N,missense_variant,12.24,0.000016326,EXAC_NFE_AF,EPS8L2
212540,11:726967:G>T,NM_022772.3:c.2134G>T,NP_073609.2:p.Gly712Trp,21/21,\N,Unknown significance,\N,missense_variant,21.9,0.000120831,EXAC_EAS_AF,EPS8L2
212541,11:726969:G>A,NM_022772.3:c.2136G>A,NP_073609.2:p.Gly712=,21/21,\N,Unknown significance,\N,synonymous_variant,11.34,0.0000958222,EXAC_AMR_AF,EPS8L2
212542,11:726973:G>A,NM_022772.3:c.2140G>A,NP_073609.2:p.Asp714Asn,21/21,\N,Likely benign,\N,missense_variant,23.8,0.000116279,EVS_EA_AF,EPS8L2
212543,11:726974:A>G,NM_022772.3:c.2141A>G,NP_073609.2:p.Asp714Gly,21/21,\N,Unknown significance,\N,missense_variant,23.3,0.000108085,EXAC_AFR_AF,EPS8L2
212544,11:726975:C>G,NM_022772.3:c.2142C>G,NP_073609.2:p.Asp714Glu,21/21,\N,Likely benign,\N,missense_variant,20.3,\N,\N,EPS8L2
212545,11:726978:C>G,NM_022772.3:c.2145C>G,NP_073609.2:p.Ser715Arg,21/21,\N,Unknown significance,\N,missense_variant,27.5,0.0043,1KG_AMR_AF,EPS8L2
212546,11:726982:G>T,NM_022772.3:c.*1G>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,12.83,0.0014,1KG_AMR_AF,EPS8L2
212547,11:726985:C>T,NM_022772.3:c.*4C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,3.266,0.000219925,EXAC_AFR_AF,EPS8L2
212548,11:726986:A>G,NM_022772.3:c.*5A>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.552,0.000135888,EXAC_SAS_AF,EPS8L2
212549,11:726988:C>G,NM_022772.3:c.*7C>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.545,\N,\N,EPS8L2
212550,11:726990:G>A,NM_022772.3:c.*9G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,7.095,0.000884062,EXAC_EAS_AF,EPS8L2
212551,11:726992:C>G,NM_022772.3:c.*11C>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.641,\N,\N,EPS8L2
212552,11:726993:T>A,NM_022772.3:c.*12T>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.481,0.0000172461,EXAC_NFE_AF,EPS8L2
212553,11:726993:T>C,NM_022772.3:c.*12T>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.31,0.0000172461,EXAC_NFE_AF,EPS8L2
212554,11:726994:T>C,NM_022772.3:c.*13T>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.217,\N,\N,EPS8L2
212555,11:727002:G>A,NM_022772.3:c.*21G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.816,0.000113792,EXAC_AFR_AF,EPS8L2
212556,11:727009:G>A,NM_022772.3:c.*28G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.576,0.0000179837,EXAC_NFE_AF,EPS8L2
212557,11:727010:G>T,NM_022772.3:c.*29G>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.153,0.001,1KG_SAS_AF,EPS8L2
212558,11:727015:G>A,NM_022772.3:c.*34G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.065,0.0000708617,EXAC_SAS_AF,EPS8L2
212559,11:727022:A>C,NM_022772.3:c.*41A>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,3.418,0.0000729501,EXAC_SAS_AF,EPS8L2
212560,11:727033:AT>A,NM_022772.3:c.*53del,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,7.782,\N,\N,EPS8L2
212561,11:727039:T>C,NM_022772.3:c.*58T>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,12.2,\N,\N,EPS8L2
212562,11:727047:TTA>T,NM_022772.3:c.*70_*71del,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,EPS8L2
212563,11:727083:G>A,NM_022772.3:c.*102G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,3.314,\N,\N,EPS8L2
212564,11:727096:G>A,NM_022772.3:c.*115G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.282,0.003,1KG_AFR_AF,EPS8L2
212565,11:727114:C>T,NM_022772.3:c.*133C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.081,\N,\N,EPS8L2
212566,11:727118:C>G,NM_022772.3:c.*137C>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,4.574,0.0008,1KG_AFR_AF,EPS8L2
212567,11:727124:G>A,NM_022772.3:c.*143G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.665,\N,\N,EPS8L2
212568,11:727130:C>T,NM_022772.3:c.*149C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,8.285,\N,\N,EPS8L2
212569,11:727131:G>A,NM_022772.3:c.*150G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,7.706,0.001,1KG_SAS_AF,EPS8L2
212570,11:727137:C>T,NM_022772.3:c.*156C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.304,0.0008,1KG_AFR_AF,EPS8L2
212571,11:727143:G>A,NM_022772.3:c.*162G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.757,0.001,1KG_EUR_AF,EPS8L2
212572,11:727188:G>A,NM_022772.3:c.*207G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,8.825,0.0008,1KG_AFR_AF,EPS8L2
212573,11:727200:G>GCTTGGTGGTGCCAGCCC,NM_022772.3:c.*224_*240dup,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,0.548,0.2421,1KG_AFR_AF,EPS8L2
212574,11:727214:G>A,NM_022772.3:c.*233G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.284,\N,\N,EPS8L2
212575,11:727216:C>G,NM_022772.3:c.*235C>G,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,4.707,0.3016,1KG_EAS_AF,EPS8L2
212576,11:727237:G>A,NM_022772.3:c.*256G>A,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,2.884,0.0069,1KG_EAS_AF,EPS8L2
212577,11:727291:T>TG,NM_022772.3:c.*316dup,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.544,0.002,1KG_EUR_AF,EPS8L2
212578,11:727310:T>C,NM_022772.3:c.*329T>C,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,1.907,0.2526,1KG_AFR_AF,EPS8L2
212579,11:727339:C>T,NM_022772.3:c.*358C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.54,\N,\N,EPS8L2
212580,11:727359:T>C,NM_022772.3:c.*378T>C,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,1.128,0.0102,1KG_SAS_AF,EPS8L2
212581,11:727366:G>A,NM_022772.3:c.*385G>A,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,1.471,0.0194,1KG_SAS_AF,EPS8L2
212582,11:727371:C>G,NM_022772.3:c.*390C>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.081,\N,\N,EPS8L2
212583,11:727373:A>T,NM_022772.3:c.*392A>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.155,0.001,1KG_EUR_AF,EPS8L2
212584,11:727390:C>T,NM_022772.3:c.*409C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,4.982,0.0014,1KG_AMR_AF,EPS8L2
212585,11:727394:G>A,NM_022772.3:c.*413G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.476,0.001,1KG_EAS_AF,EPS8L2
212586,11:727395:C>T,NM_022772.3:c.*414C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.393,0.001,1KG_SAS_AF,EPS8L2
212587,11:727396:A>G,NM_022772.3:c.*415A>G,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,4.8,0.0231,1KG_AMR_AF,EPS8L2
212588,11:727401:C>T,NM_022772.3:c.*420C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,3.699,0.0008,1KG_AFR_AF,EPS8L2
212589,11:727402:G>T,NM_022772.3:c.*421G>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.004,\N,\N,EPS8L2
212590,11:727410:C>T,NM_022772.3:c.*429C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.307,0.003,1KG_EUR_AF,EPS8L2
212591,11:727411:T>G,NM_022772.3:c.*430T>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,4.998,0.0008,1KG_AFR_AF,EPS8L2
212592,11:727422:G>C,NM_022772.3:c.*441G>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.504,0.001,1KG_EUR_AF,EPS8L2
212593,11:727430:G>A,NM_022772.3:c.*449G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,7.776,\N,\N,EPS8L2
212594,11:727444:C>T,NM_022772.3:c.*463C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,12.26,\N,\N,EPS8L2
212595,11:727446:G>A,NM_022772.3:c.*465G>A,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,5.243,0.0953,1KG_AFR_AF,EPS8L2
212596,11:727452:C>T,NM_022772.3:c.*471C>T,\N,21/21,\N,Benign,\N,3_prime_UTR_variant,4.225,0.1113,1KG_EUR_AF,EPS8L2
212597,11:727453:G>A,NM_022772.3:c.*472G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.152,\N,\N,EPS8L2
212598,11:727456:G>A,NM_022772.3:c.*475G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.277,\N,\N,EPS8L2
212599,11:727467:G>A,NM_022772.3:c.*486G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.827,\N,\N,EPS8L2
212600,11:727482:A>G,NM_022772.3:c.*501A>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.52,0.0038,1KG_AFR_AF,EPS8L2
212601,11:727526:C>T,NM_022772.3:c.*545C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.507,\N,\N,EPS8L2
212602,11:727527:G>A,NM_022772.3:c.*546G>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,3.028,0.001,1KG_SAS_AF,EPS8L2
212603,11:727531:C>T,NM_022772.3:c.*550C>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.753,\N,\N,EPS8L2
212604,11:727532:G>T,NM_022772.3:c.*551G>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.123,0.0015,1KG_AFR_AF,EPS8L2
212605,11:727538:A>C,NM_022772.3:c.*557A>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.835,0.001,1KG_EAS_AF,EPS8L2
212606,11:727566:C>A,NM_022772.3:c.*585C>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,6.333,0.0015,1KG_AFR_AF,EPS8L2
212607,11:727624:G>T,NM_022772.3:c.*643G>T,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,2.288,\N,\N,EPS8L2
212608,11:727632:G>C,NM_022772.3:c.*651G>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.752,0.0023,1KG_AFR_AF,EPS8L2
212609,11:727688:C>A,NM_022772.3:c.*707C>A,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.182,0.0014,1KG_AMR_AF,EPS8L2
212610,11:727703:A>G,NM_022772.3:c.*722A>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,5.37,\N,\N,EPS8L2
212611,11:727713:T>C,NM_022772.3:c.*732T>C,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,1.592,\N,\N,EPS8L2
212612,11:727723:C>G,NM_022772.3:c.*742C>G,\N,21/21,\N,Unknown significance,\N,3_prime_UTR_variant,0.496,0.0038,1KG_AFR_AF,EPS8L