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
716529,6:42931625:G>C,NM_000287.3:c.*448C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.886,0.001,1KG_SAS_AF,PEX6
716530,6:42931627:GTTTA>G,NM_000287.3:c.*442_*445del,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,13.13,0.9788,1KG_AFR_AF,PEX6
716531,6:42931633:T>G,NM_000287.3:c.*440A>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.862,\N,\N,PEX6
716532,6:42931652:C>T,NM_000287.3:c.*421G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.018,0.0015,1KG_AFR_AF,PEX6
716533,6:42931665:C>A,NM_000287.3:c.*408G>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.208,\N,\N,PEX6
716534,6:42931673:C>G,NM_000287.3:c.*400G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,1.514,0.002,1KG_SAS_AF,PEX6
716535,6:42931730:C>G,NM_000287.3:c.*343G>C,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,7.714,0.0109,1KG_EAS_AF,PEX6
716536,6:42931748:G>A,NM_000287.3:c.*325C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,8.757,0.0008,1KG_AFR_AF,PEX6
716537,6:42931754:G>A,NM_000287.3:c.*319C>T,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,7.756,0.1769,1KG_SAS_AF,PEX6
716538,6:42931769:T>C,NM_000287.3:c.*304A>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,9.175,\N,\N,PEX6
716539,6:42931779:G>A,NM_000287.3:c.*294C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,9.264,0.001,1KG_EAS_AF|1KG_SAS_AF,PEX6
716540,6:42931808:G>A,NM_000287.3:c.*265C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.35,\N,\N,PEX6
716541,6:42931816:G>A,NM_000287.3:c.*257C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.101,\N,\N,PEX6
716542,6:42931820:C>T,NM_000287.3:c.*253G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.239,\N,\N,PEX6
716543,6:42931821:T>C,NM_000287.3:c.*252A>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,1.921,\N,\N,PEX6
716544,6:42931856:G>A,NM_000287.3:c.*217C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,2.142,\N,\N,PEX6
716545,6:42931861:G>A,NM_000287.3:c.*212C>T,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,1.915,0.0245,1KG_AMR_AF,PEX6
716546,6:42931891:A>AT,NM_000287.3:c.*181dup,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,0.396,0.034,1KG_AFR_AF,PEX6
716547,6:42931936:T>C,NM_000287.3:c.*137A>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,0.124,0.0014,1KG_AMR_AF,PEX6
716548,6:42931952:G>C,NM_000287.3:c.*121C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.21,0.001,1KG_SAS_AF,PEX6
716549,6:42931962:C>T,NM_000287.3:c.*111G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.88,\N,\N,PEX6
716550,6:42931992:G>T,NM_000287.3:c.*81C>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.541,0.001,1KG_SAS_AF,PEX6
716551,6:42932027:G>A,NM_000287.3:c.*46C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.037,0.0000473545,EXAC_NFE_AF,PEX6
716552,6:42932030:A>G,NM_000287.3:c.*43T>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,3.667,0.00115473,EXAC_OTH_AF,PEX6
716553,6:42932034:G>A,NM_000287.3:c.*39C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,3.799,0.00115741,EXAC_OTH_AF,PEX6
716554,6:42932035:C>T,NM_000287.3:c.*38G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.791,\N,\N,PEX6
716555,6:42932045:G>A,NM_000287.3:c.*28C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.237,0.000113921,EXAC_AFR_AF,PEX6
716556,6:42932048:C>A,NM_000287.3:c.*25G>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,7.489,0.000910747,EXAC_AFR_AF,PEX6
716557,6:42932048:C>T,NM_000287.3:c.*25G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.711,0.00034153,EXAC_AFR_AF,PEX6
716558,6:42932049:G>A,NM_000287.3:c.*24C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.21,0.001,1KG_SAS_AF,PEX6
716559,6:42932054:C>G,NM_000287.3:c.*19G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.049,0.000348371,EXAC_AMR_AF,PEX6
716560,6:42932058:G>A,NM_000287.3:c.*15C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.628,\N,\N,PEX6
716561,6:42932069:G>A,NM_000287.3:c.*4C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,8.604,0.0000470072,EXAC_NFE_AF,PEX6
716562,6:42932069:G>C,NM_000287.3:c.*4C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.996,0.0000156691,EXAC_NFE_AF,PEX6
716563,6:42932073:C>T,NM_000287.3:c.2943G>A,NP_000278.3:p.Ter981=,17/17,\N,Unknown significance,\N,stop_retained_variant,16.72,0.0000156426,EXAC_NFE_AF,PEX6
716564,6:42932074:T>C,NM_000287.3:c.2942A>G,NP_000278.3:p.Ter981TrpextTer52,17/17,\N,Unknown significance,\N,stop_lost,23.7,0.000233754,EXAC_EAS_AF,PEX6
716565,6:42932080:G>A,NM_000287.3:c.2936C>T,NP_000278.3:p.Ala979Val,17/17,\N,Benign,\N,missense_variant,33,0.034,1KG_AFR_AF,PEX6
716566,6:42932082:A>C,NM_000287.3:c.2934T>G,NP_000278.3:p.Ala978=,17/17,\N,Unknown significance,\N,synonymous_variant,8.141,0.0000155836,EXAC_NFE_AF,PEX6
716567,6:42932084:C>T,NM_000287.3:c.2932G>A,NP_000278.3:p.Ala978Thr,17/17,\N,Likely benign,\N,missense_variant,27,0.000116279,EVS_EA_AF,PEX6
716568,6:42932092:C>A,NM_000287.3:c.2924G>T,NP_000278.3:p.Arg975Leu,17/17,\N,Likely benign,\N,missense_variant,23.2,0.0000310829,EXAC_NFE_AF,PEX6
716569,6:42932092:C>T,NM_000287.3:c.2924G>A,NP_000278.3:p.Arg975His,17/17,\N,Likely benign,\N,missense_variant,23,0.000116795,EXAC_EAS_AF,PEX6
716570,6:42932093:G>A,NM_000287.3:c.2923C>T,NP_000278.3:p.Arg975Cys,17/17,\N,Unknown significance,\N,missense_variant,23.5,0.001,1KG_SAS_AF,PEX6
716571,6:42932101:C>T,NM_000287.3:c.2915G>A,NP_000278.3:p.Arg972His,17/17,\N,Likely benign,\N,missense_variant,24.1,0.000121403,EXAC_SAS_AF,PEX6
716572,6:42932102:G>A,NM_000287.3:c.2914C>T,NP_000278.3:p.Arg972Cys,17/17,\N,Unknown significance,\N,missense_variant,27.4,0.000116741,EXAC_EAS_AF,PEX6
716573,6:42932108:A>G,NM_000287.3:c.2908T>C,NP_000278.3:p.Tyr970His,17/17,\N,Unknown significance,\N,missense_variant,32,0.000182039,EXAC_SAS_AF,PEX6
716574,6:42932109:C>G,NM_000287.3:c.2907G>C,NP_000278.3:p.Arg969=,17/17,\N,Unknown significance,\N,synonymous_variant,14.24,0.004,1KG_EAS_AF,PEX6
716575,6:42932109:C>T,NM_000287.3:c.2907G>A,NP_000278.3:p.Arg969=,17/17,\N,Unknown significance,\N,synonymous_variant,17.48,0.00010175,EXAC_AFR_AF,PEX6
716576,6:42932110:C>A,NM_000287.3:c.2906G>T,NP_000278.3:p.Arg969Leu,17/17,\N,Unknown significance,\N,missense_variant,35,0.0000867152,EXAC_AMR_AF,PEX6
716577,6:42932110:C>T,NM_000287.3:c.2906G>A,NP_000278.3:p.Arg969Gln,17/17,\N,Unknown significance,\N,missense_variant,35,0.000226963,EVS_AA_AF,PEX6
716578,6:42932111:G>A,NM_000287.3:c.2905C>T,NP_000278.3:p.Arg969Trp,17/17,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,PEX6
716579,6:42932123:G>C,NM_000287.3:c.2893C>G,NP_000278.3:p.Gln965Glu,17/17,\N,Unknown significance,\N,missense_variant,10.56,0.0000866701,EXAC_AMR_AF,PEX6
716580,6:42932124:C>CT,NM_000287.3:c.2891dup,NP_000278.3:p.Gln965AlafsTer34,17/17,\N,Unknown significance,\N,frameshift_variant,35,0.00224719,EXAC_OTH_AF,PEX6
716581,6:42932129:T>G,NM_000287.3:c.2887A>C,NP_000278.3:p.Ser963Arg,17/17,\N,Unknown significance,\N,missense_variant,27.3,0.0000606208,EXAC_SAS_AF,PEX6
716582,6:42932132:C>T,NM_000287.3:c.2884G>A,NP_000278.3:p.Val962Ile,17/17,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,PEX6
716583,6:42932133:T>A,NM_000287.3:c.2883A>T,NP_000278.3:p.Ser961=,17/17,\N,Unknown significance,\N,synonymous_variant,11.28,0.000116279,EVS_EA_AF,PEX6
716584,6:42932135:AGGGTTGCAGCCG>A,NM_000287.3:c.2869_2880del,NP_000278.3:p.Arg957_Pro960del,17/17,\N,Unknown significance,\N,inframe_deletion,21.7,\N,\N,PEX6
716585,6:42932139:T>A,NM_000287.3:c.2877A>T,NP_000278.3:p.Gln959His,17/17,\N,Unknown significance,\N,missense_variant,17.32,\N,\N,PEX6
716586,6:42932139:T>C,NM_000287.3:c.2877A>G,NP_000278.3:p.Gln959=,17/17,\N,Unknown significance,\N,synonymous_variant,0.92,0.000151745,EXAC_FIN_AF,PEX6
716587,6:42932142:C>A,NM_000287.3:c.2874G>T,NP_000278.3:p.Leu958=,17/17,\N,Unknown significance,\N,synonymous_variant,15.91,0.0000153229,EXAC_NFE_AF,PEX6
716588,6:42932146:C>T,NM_000287.3:c.2870G>A,NP_000278.3:p.Arg957Gln,17/17,\N,Likely benign,\N,missense_variant,23.4,0.001,1KG_SAS_AF,PEX6
716589,6:42932147:G>A,NM_000287.3:c.2869C>T,NP_000278.3:p.Arg957Trp,17/17,\N,Unknown significance,\N,missense_variant,33,0.00010002,EXAC_AFR_AF,PEX6
716590,6:42932149:G>A,NM_000287.3:c.2867C>T,NP_000278.3:p.Ala956Val,17/17,\N,Benign,\N,missense_variant,22.7,0.0109,1KG_EAS_AF,PEX6
716591,6:42932150:C>T,NM_000287.3:c.2866G>A,NP_000278.3:p.Ala956Thr,17/17,\N,Likely benign,\N,missense_variant,20.3,0.0000153032,EXAC_NFE_AF,PEX6
716592,6:42932154:A>G,NM_000287.3:c.2862T>C,NP_000278.3:p.Ala954=,17/17,\N,Unknown significance,\N,synonymous_variant,6.954,0.0000152742,EXAC_NFE_AF,PEX6
716593,6:42932155:G>A,NM_000287.3:c.2861C>T,NP_000278.3:p.Ala954Val,17/17,\N,Unknown significance,\N,missense_variant,31,0.0000152723,EXAC_NFE_AF,PEX6
716594,6:42932158:TG>T,NM_000287.3:c.2857del,NP_000278.3:p.Gln953ArgfsTer102,17/17,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,PEX6
716595,6:42932162:G>A,NM_000287.3:c.2854C>T,NP_000278.3:p.Leu952=,17/17,\N,Unknown significance,\N,synonymous_variant,9.869,0.0000152509,EXAC_NFE_AF,PEX6
716596,6:42932168:C>T,NM_000287.3:c.2848G>A,NP_000278.3:p.Asp950Asn,17/17,\N,Unknown significance,\N,missense_variant,34,0.0000457401,EXAC_NFE_AF,PEX6
716597,6:42932172:C>A,NM_000287.3:c.2844G>T,NP_000278.3:p.Met948Ile,17/17,\N,Unknown significance,\N,missense_variant,23.1,0.00017334,EXAC_AMR_AF,PEX6
716598,6:42932172:C>T,NM_000287.3:c.2844G>A,NP_000278.3:p.Met948Ile,17/17,\N,Unknown significance,\N,missense_variant,22.9,0.0000866701,EXAC_AMR_AF,PEX6
716599,6:42932197:C>A,NM_000287.3:c.2819G>T,NP_000278.3:p.Gly940Val,17/17,\N,Likely benign,\N,missense_variant,16.5,\N,\N,PEX6
716600,6:42932200:G>T,NM_000287.3:c.2816C>A,NP_000278.3:p.Pro939Gln,17/17,\N,Benign,\N,missense_variant,14.4,0.4622,1KG_EUR_AF,PEX6
716601,6:42932200:G>C,NM_000287.3:c.2816C>G,NP_000278.3:p.Pro939Arg,17/17,\N,Likely benign,\N,missense_variant,19.76,0.0000151851,EXAC_NFE_AF,PEX6
716602,6:42932200:GGC>TGT,NM_000287.3:c.2814_2816delinsACA,NP_000278.3:p.Pro939Gln,17/17,\N,Unknown significance,\N,missense_variant,\N,\N,\N,PEX6
716603,6:42932202:C>T,NM_000287.3:c.2814G>A,NP_000278.3:p.Glu938=,17/17,\N,Benign,\N,synonymous_variant,16.08,0.7617,1KG_AFR_AF,PEX6
716604,6:42932211:T>C,NM_000287.3:c.2807-2A>G,\N,\N,16/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,25.9,\N,\N,PEX6
716605,6:42932226:G>A,NM_000287.3:c.2807-17C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,4.066,0.0000606722,EXAC_SAS_AF,PEX6
716606,6:42932229:G>A,NM_000287.3:c.2807-20C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,4.866,0.000466092,EXAC_EAS_AF,PEX6
716607,6:42932232:G>A,NM_000287.3:c.2807-23C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,7.79,0.0000606796,EXAC_SAS_AF,PEX6
716608,6:42932237:G>A,NM_000287.3:c.2807-28C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,7.153,0.0000153936,EXAC_NFE_AF,PEX6
716609,6:42932242:A>G,NM_000287.3:c.2807-33T>C,\N,\N,16/16,Benign,\N,intron_variant,6.72,0.0325,1KG_AFR_AF,PEX6
716610,6:42932247:C>A,NM_000287.3:c.2807-38G>T,\N,\N,16/16,Unknown significance,\N,intron_variant,4.068,0.0000868508,EXAC_AMR_AF,PEX6
716611,6:42932247:C>G,NM_000287.3:c.2807-38G>C,\N,\N,16/16,Unknown significance,\N,intron_variant,2.036,0.0000154326,EXAC_NFE_AF,PEX6
716612,6:42932247:C>T,NM_000287.3:c.2807-38G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,3.822,0.000116279,EVS_EA_AF,PEX6
716613,6:42932250:G>A,NM_000287.3:c.2807-41C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,7.687,0.000060687,EXAC_SAS_AF,PEX6
716614,6:42932251:C>T,NM_000287.3:c.2807-42G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,7.946,0.0000154474,EXAC_NFE_AF,PEX6
716615,6:42932254:G>A,NM_000287.3:c.2807-45C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,7.697,0.000116604,EXAC_EAS_AF,PEX6
716616,6:42932254:G>C,NM_000287.3:c.2807-45C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,4.522,0.000226963,EVS_AA_AF,PEX6
716617,6:42932255:G>A,NM_000287.3:c.2807-46C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,5.99,0.0000154756,EXAC_NFE_AF,PEX6
716618,6:42932260:G>A,NM_000287.3:c.2807-51C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,5.555,0.000015489,EXAC_NFE_AF,PEX6
716619,6:42932262:C>T,NM_000287.3:c.2807-53G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,10.28,\N,\N,PEX6
716620,6:42932266:C>A,NM_000287.3:c.2807-57G>T,\N,\N,16/16,Unknown significance,\N,intron_variant,1.982,\N,\N,PEX6
716621,6:42932297:A>G,NM_000287.3:c.2807-88T>C,\N,\N,16/16,Unknown significance,\N,intron_variant,2.793,\N,\N,PEX6
716622,6:42932317:G>C,NM_000287.3:c.2807-108C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,8.742,0.001,1KG_EUR_AF,PEX6
716623,6:42932322:C>G,NM_000287.3:c.2807-113G>C,\N,\N,16/16,Unknown significance,\N,intron_variant,7.511,0.001,1KG_EAS_AF,PEX6
716624,6:42932350:T>G,NM_000287.3:c.2807-141A>C,\N,\N,16/16,Unknown significance,\N,intron_variant,2.637,0.0029,1KG_AMR_AF,PEX6
716625,6:42932367:A>AT,NM_000287.3:c.2807-159dup,\N,\N,16/16,Benign,\N,intron_variant,0.486,0.0086,1KG_AMR_AF,PEX6
716626,6:42932382:G>A,NM_000287.3:c.2806+146C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,2.207,0.002,1KG_SAS_AF,PEX6
716627,6:42932389:C>T,NM_000287.3:c.2806+139G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,2.311,0.0008,1KG_AFR_AF,PEX6
716628,6:42932426:C>T,NM_000287.3:c.2806+102G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,3.503,0.0014,1KG_AMR_AF,PEX6
716629,6:42932431:G>A,NM_000287.3:c.2806+97C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,0.379,0.0008,1KG_AFR_AF,PEX6
716630,6:42932434:C>T,NM_000287.3:c.2806+94G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,2.583,0.0038,1KG_AFR_AF,PEX6
716631,6:42932449:TCTCAAGTAGCTGGGA>T,NM_000287.3:c.2806+64_2806+78del,\N,\N,16/16,Unknown significance,\N,intron_variant,6.401,0.003,1KG_EAS_AF,PEX6
716632,6:42932450:C>T,NM_000287.3:c.2806+78G>A,\N,\N,16/16,Benign,\N,intron_variant,5.416,0.0348,1KG_AFR_AF,PEX6
716633,6:42932451:T>A,NM_000287.3:c.2806+77A>T,\N,\N,16/16,Benign,\N,intron_variant,1.269,0.0121,1KG_AFR_AF,PEX6
716634,6:42932461:G>A,NM_000287.3:c.2806+67C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,4.83,0.001,1KG_EAS_AF,PEX6
716635,6:42932490:G>C,NM_000287.3:c.2806+38C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,3.203,0.000226963,EVS_AA_AF,PEX6
716636,6:42932504:C>T,NM_000287.3:c.2806+24G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,6.322,0.0000608051,EXAC_SAS_AF,PEX6
716637,6:42932513:C>T,NM_000287.3:c.2806+15G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,9.14,0.00151994,EXAC_SAS_AF,PEX6
716638,6:42932514:G>A,NM_000287.3:c.2806+14C>T,\N,\N,16/16,Benign,\N,intron_variant,11.93,0.0061,1KG_SAS_AF,PEX6
716639,6:42932527:C>T,NM_000287.3:c.2806+1G>A,\N,\N,16/16,Unknown significance,\N,splice_donor_variant,28.8,0.0000301677,EXAC_NFE_AF,PEX6
716640,6:42932532:C>T,NM_000287.3:c.2802G>A,NP_000278.3:p.Glu934=,16/17,\N,Unknown significance,\N,synonymous_variant,15.67,0.0000980008,EXAC_AFR_AF,PEX6
716641,6:42932545:AC>A,NM_000287.3:c.2788del,NP_000278.3:p.Val930PhefsTer15,16/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
716642,6:42932546:C>A,NM_000287.3:c.2788G>T,NP_000278.3:p.Val930Phe,16/17,\N,Unknown significance,\N,missense_variant,26,0.000151194,EXAC_FIN_AF,PEX6
716643,6:42932551:C>T,NM_000287.3:c.2783G>A,NP_000278.3:p.Arg928His,16/17,\N,Unknown significance,\N,missense_variant,35,0.0031,1KG_SAS_AF,PEX6
716644,6:42932552:G>A,NM_000287.3:c.2782C>T,NP_000278.3:p.Arg928Cys,16/17,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,PEX6
716645,6:42932553:T>C,NM_000287.3:c.2781A>G,NP_000278.3:p.Lys927=,16/17,\N,Unknown significance,\N,synonymous_variant,6.809,0.0000866101,EXAC_AMR_AF,PEX6
716646,6:42932564:C>A,NM_000287.3:c.2770G>T,NP_000278.3:p.Ala924Ser,16/17,\N,Benign,\N,missense_variant,11.22,0.0234,1KG_AFR_AF,PEX6
716647,6:42932570:T>C,NM_000287.3:c.2764A>G,NP_000278.3:p.Met922Val,16/17,\N,Unknown significance,\N,missense_variant,25.5,0.0000150263,EXAC_NFE_AF,PEX6
716648,6:42932576:C>T,NM_000287.3:c.2758G>A,NP_000278.3:p.Asp920Asn,16/17,\N,Unknown significance,\N,missense_variant,34,0.0000150195,EXAC_NFE_AF,PEX6
716649,6:42932577:A>G,NM_000287.3:c.2757T>C,NP_000278.3:p.Ser919=,16/17,\N,Unknown significance,\N,synonymous_variant,11.52,0.0000606502,EXAC_SAS_AF,PEX6
716650,6:42932585:G>A,NM_000287.3:c.2749C>T,NP_000278.3:p.Leu917Phe,16/17,\N,Unknown significance,\N,missense_variant,33,0.0000606428,EXAC_SAS_AF,PEX6
716651,6:42932588:A>G,NM_000287.3:c.2746T>C,NP_000278.3:p.Ser916Pro,16/17,\N,Unknown significance,\N,missense_variant,24.8,0.000226963,EVS_AA_AF,PEX6
716652,6:42932594:G>A,NM_000287.3:c.2740C>T,NP_000278.3:p.Leu914Phe,16/17,\N,Unknown significance,\N,missense_variant,23.3,0.000015002,EXAC_NFE_AF,PEX6
716653,6:42932598:C>T,NM_000287.3:c.2736G>A,NP_000278.3:p.Ala912=,16/17,\N,Unknown significance,\N,synonymous_variant,15.95,0.000578302,EXAC_EAS_AF,PEX6
716654,6:42932599:G>A,NM_000287.3:c.2735C>T,NP_000278.3:p.Ala912Val,16/17,\N,Unknown significance,\N,missense_variant,33,0.0000149979,EXAC_NFE_AF,PEX6
716655,6:42932600:C>T,NM_000287.3:c.2734G>A,NP_000278.3:p.Ala912Thr,16/17,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,PEX6
716656,6:42932601:G>A,NM_000287.3:c.2733C>T,NP_000278.3:p.Gly911=,16/17,\N,Unknown significance,\N,synonymous_variant,9.956,0.000303067,EXAC_SAS_AF,PEX6
716657,6:42932604:C>T,NM_000287.3:c.2730G>A,NP_000278.3:p.Thr910=,16/17,\N,Unknown significance,\N,synonymous_variant,14.86,0.0000606061,EXAC_SAS_AF,PEX6
716658,6:42932605:G>A,NM_000287.3:c.2729C>T,NP_000278.3:p.Thr910Met,16/17,\N,Unknown significance,\N,missense_variant,31,0.000151194,EXAC_FIN_AF,PEX6
716659,6:42932608:A>T,NM_000287.3:c.2726T>A,NP_000278.3:p.Leu909Gln,16/17,\N,Pathogenic,Zellweger syndrome,missense_variant,27.5,\N,\N,PEX6
716660,6:42932609:G>T,NM_000287.3:c.2725C>A,NP_000278.3:p.Leu909Met,16/17,\N,Likely benign,\N,missense_variant,14.46,0.000115634,EXAC_EAS_AF,PEX6
716661,6:42932618:G>A,NM_000287.3:c.2716C>T,NP_000278.3:p.Pro906Ser,16/17,\N,Unknown significance,\N,missense_variant,26,0.0000149853,EXAC_NFE_AF,PEX6
716662,6:42932630:G>A,NM_000287.3:c.2704C>T,NP_000278.3:p.Leu902=,16/17,\N,Unknown significance,\N,synonymous_variant,12.29,0.000116279,EVS_EA_AF,PEX6
716663,6:42932633:C>T,NM_000287.3:c.2701G>A,NP_000278.3:p.Val901Met,16/17,\N,Unknown significance,\N,missense_variant,33,0.0000149849,EXAC_NFE_AF,PEX6
716664,6:42932634:G>A,NM_000287.3:c.2700C>T,NP_000278.3:p.Asn900=,16/17,\N,Unknown significance,\N,synonymous_variant,11.32,0.0041,1KG_SAS_AF,PEX6
716665,6:42932648:C>G,NM_000287.3:c.2686G>C,NP_000278.3:p.Val896Leu,16/17,\N,Unknown significance,\N,missense_variant,24,0.0008,1KG_AFR_AF,PEX6
716666,6:42932665:A>T,NM_000287.3:c.2669T>A,NP_000278.3:p.Phe890Tyr,16/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000060562,EXAC_SAS_AF,PEX6
716667,6:42932669:T>C,NM_000287.3:c.2667-2A>G,\N,\N,15/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,25.7,\N,\N,PEX6
716668,6:42932680:A>C,NM_000287.3:c.2667-13T>G,\N,\N,15/16,Unknown significance,\N,intron_variant,7.223,0.000060562,EXAC_SAS_AF,PEX6
716669,6:42932682:A>G,NM_000287.3:c.2667-15T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,6.987,0.0000149835,EXAC_NFE_AF,PEX6
716670,6:42932690:A>G,NM_000287.3:c.2667-23T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,14.17,0.000060562,EXAC_SAS_AF,PEX6
716671,6:42932691:CAG>C,NM_000287.3:c.2667-26_2667-25del,\N,\N,15/16,Unknown significance,\N,intron_variant,16.16,\N,\N,PEX6
716672,6:42932705:C>T,NM_000287.3:c.2667-38G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,12.5,0.000172801,EXAC_AMR_AF,PEX6
716673,6:42932715:C>T,NM_000287.3:c.2667-48G>A,\N,\N,15/16,Benign,\N,intron_variant,5,0.7958,1KG_AFR_AF,PEX6
716674,6:42932718:A>G,NM_000287.3:c.2667-51T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,4.809,0.0000149844,EXAC_NFE_AF,PEX6
716675,6:42932720:G>A,NM_000287.3:c.2667-53C>T,\N,\N,15/16,Benign,\N,intron_variant,7.789,0.0082,1KG_SAS_AF,PEX6
716676,6:42932731:C>T,NM_000287.3:c.2667-64G>A,\N,\N,15/16,Benign,\N,intron_variant,11.84,0.0481,1KG_SAS_AF,PEX6
716677,6:42932740:C>T,NM_000287.3:c.2666+73G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,1.05,0.0031,1KG_SAS_AF,PEX6
716678,6:42932747:G>C,NM_000287.3:c.2666+66C>G,\N,\N,15/16,Unknown significance,\N,intron_variant,0.942,\N,\N,PEX6
716679,6:42932755:C>T,NM_000287.3:c.2666+58G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,4.237,0.0008,1KG_AFR_AF,PEX6
716680,6:42932768:T>C,NM_000287.3:c.2666+45A>G,\N,\N,15/16,Unknown significance,\N,intron_variant,5.033,0.000060562,EXAC_SAS_AF,PEX6
716681,6:42932775:G>A,NM_000287.3:c.2666+38C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,5.012,0.0000864006,EXAC_AMR_AF,PEX6
716682,6:42932776:C>G,NM_000287.3:c.2666+37G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,7.076,0.000116279,EVS_EA_AF,PEX6
716683,6:42932777:C>A,NM_000287.3:c.2666+36G>T,\N,\N,15/16,Unknown significance,\N,intron_variant,2.101,0.001,1KG_EUR_AF,PEX6
716684,6:42932783:C>T,NM_000287.3:c.2666+30G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,7.715,0.0000149853,EXAC_NFE_AF,PEX6
716685,6:42932787:C>T,NM_000287.3:c.2666+26G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,2.759,0.0015,1KG_AFR_AF,PEX6
716686,6:42932788:G>A,NM_000287.3:c.2666+25C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,4.416,0.000577768,EXAC_EAS_AF,PEX6
716687,6:42932795:T>C,NM_000287.3:c.2666+18A>G,\N,\N,15/16,Unknown significance,\N,intron_variant,5.649,0.000060562,EXAC_SAS_AF,PEX6
716688,6:42932797:C>G,NM_000287.3:c.2666+16G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,1.899,0.0000960984,EXAC_AFR_AF,PEX6
716689,6:42932799:C>T,NM_000287.3:c.2666+14G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,2.686,0.001,1KG_EUR_AF,PEX6
716690,6:42932804:A>G,NM_000287.3:c.2666+9T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,4.694,0.000302389,EXAC_FIN_AF,PEX6
716691,6:42932811:A>G,NM_000287.3:c.2666+2T>C,\N,\N,15/16,Pathogenic,Zellweger syndrome C,splice_donor_variant,25.5,\N,\N,PEX6
716692,6:42932816:C>G,NM_000287.3:c.2663G>C,NP_000278.3:p.Arg888Pro,15/17,\N,Pathogenic,Zellweger syndrome,missense_variant,34,\N,\N,PEX6
716693,6:42932817:G>A,NM_000287.3:c.2662C>T,NP_000278.3:p.Arg888Cys,15/17,\N,Unknown significance,\N,missense_variant,35,0.000453926,EVS_AA_AF,PEX6
716694,6:42932830:T>G,NM_000287.3:c.2649A>C,NP_000278.3:p.Leu883=,15/17,\N,Unknown significance,\N,synonymous_variant,10.41,0.0000299679,EXAC_NFE_AF,PEX6
716695,6:42932835:C>T,NM_000287.3:c.2644G>A,NP_000278.3:p.Val882Ile,15/17,\N,Benign,\N,missense_variant,12.36,0.0376474,EXAC_FIN_AF,PEX6
716696,6:42932836:G>A,NM_000287.3:c.2643C>T,NP_000278.3:p.Arg881=,15/17,\N,Unknown significance,\N,synonymous_variant,13.63,0.001,1KG_SAS_AF,PEX6
716697,6:42932837:C>T,NM_000287.3:c.2642G>A,NP_000278.3:p.Arg881His,15/17,\N,Unknown significance,\N,missense_variant,23.3,0.000288295,EXAC_AFR_AF,PEX6
716698,6:42932838:G>A,NM_000287.3:c.2641C>T,NP_000278.3:p.Arg881Cys,15/17,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,PEX6
716699,6:42932849:G>T,NM_000287.3:c.2630C>A,NP_000278.3:p.Ala877Asp,15/17,\N,Unknown significance,\N,missense_variant,21.3,0.000014984,EXAC_NFE_AF,PEX6
716700,6:42932850:C>A,NM_000287.3:c.2629G>T,NP_000278.3:p.Ala877Ser,15/17,\N,Unknown significance,\N,missense_variant,23.6,0.000116279,EVS_EA_AF,PEX6
716701,6:42932852:C>T,NM_000287.3:c.2627G>A,NP_000278.3:p.Arg876Gln,15/17,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_SAS_AF,PEX6
716702,6:42932853:G>A,NM_000287.3:c.2626C>T,NP_000278.3:p.Arg876Trp,15/17,\N,Pathogenic,Zellweger syndrome,missense_variant,35,0.0000149858,EXAC_NFE_AF,PEX6
716703,6:42932853:G>T,NM_000287.3:c.2626C>A,NP_000278.3:p.Arg876=,15/17,\N,Unknown significance,\N,synonymous_variant,14.94,0.000060562,EXAC_SAS_AF,PEX6
716704,6:42932861:T>G,NM_000287.3:c.2618A>C,NP_000278.3:p.Asn873Thr,15/17,\N,Likely benign,\N,missense_variant,14.18,0.000115554,EXAC_EAS_AF,PEX6
716705,6:42932864:G>A,NM_000287.3:c.2615C>T,NP_000278.3:p.Ala872Val,15/17,\N,Likely benign,\N,missense_variant,0.642,0.0014,1KG_AMR_AF,PEX6
716706,6:42932872:A>G,NM_000287.3:c.2607T>C,NP_000278.3:p.Phe869=,15/17,\N,Unknown significance,\N,synonymous_variant,1.008,\N,\N,PEX6
716707,6:42932875:C>T,NM_000287.3:c.2604G>A,NP_000278.3:p.Val868=,15/17,\N,Unknown significance,\N,synonymous_variant,16.88,0.000423934,EXAC_SAS_AF,PEX6
716708,6:42932877:C>A,NM_000287.3:c.2602G>T,NP_000278.3:p.Val868Leu,15/17,\N,Unknown significance,\N,missense_variant,19.56,0.0008,1KG_AFR_AF,PEX6
716709,6:42932884:G>A,NM_000287.3:c.2595C>T,NP_000278.3:p.Asp865=,15/17,\N,Unknown significance,\N,synonymous_variant,9.674,0.0000299706,EXAC_NFE_AF,PEX6
716710,6:42932888:A>G,NM_000287.3:c.2591T>C,NP_000278.3:p.Phe864Ser,15/17,\N,Pathogenic,Zellweger syndrome,missense_variant&splice_region_variant,33,\N,\N,PEX6
716711,6:42932894:T>C,NM_000287.3:c.2589-4A>G,\N,\N,14/16,Unknown significance,\N,splice_region_variant&intron_variant,13.56,0.0000149858,EXAC_NFE_AF,PEX6
716712,6:42932902:T>C,NM_000287.3:c.2589-12A>G,\N,\N,14/16,Unknown significance,\N,intron_variant,4.659,0.000115554,EXAC_EAS_AF,PEX6
716713,6:42932908:G>A,NM_000287.3:c.2589-18C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,8.004,0.000060562,EXAC_SAS_AF,PEX6
716714,6:42932910:T>G,NM_000287.3:c.2589-20A>C,\N,\N,14/16,Unknown significance,\N,intron_variant,6.976,\N,\N,PEX6
716715,6:42932923:G>A,NM_000287.3:c.2589-33C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,11.33,\N,\N,PEX6
716716,6:42932925:G>T,NM_000287.3:c.2589-35C>A,\N,\N,14/16,Unknown significance,\N,intron_variant,9.159,0.000453926,EVS_AA_AF,PEX6
716717,6:42932934:T>C,NM_000287.3:c.2589-44A>G,\N,\N,14/16,Unknown significance,\N,intron_variant,2.065,\N,\N,PEX6
716718,6:42932935:G>T,NM_000287.3:c.2589-45C>A,\N,\N,14/16,Unknown significance,\N,intron_variant,4.286,\N,\N,PEX6
716719,6:42932937:G>A,NM_000287.3:c.2589-47C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,6.537,0.0000149907,EXAC_NFE_AF,PEX6
716720,6:42932937:G>T,NM_000287.3:c.2589-47C>A,\N,\N,14/16,Unknown significance,\N,intron_variant,5.064,0.00011558,EXAC_EAS_AF,PEX6
716721,6:42932944:A>C,NM_000287.3:c.2588+46T>G,\N,\N,14/16,Unknown significance,\N,intron_variant,9.216,0.000060562,EXAC_SAS_AF,PEX6
716722,6:42932944:A>G,NM_000287.3:c.2588+46T>C,\N,\N,14/16,Unknown significance,\N,intron_variant,10.49,\N,\N,PEX6
716723,6:42932945:G>A,NM_000287.3:c.2588+45C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,10.95,0.000074958,EXAC_NFE_AF,PEX6
716724,6:42932946:G>A,NM_000287.3:c.2588+44C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,9.991,0.0000864454,EXAC_AMR_AF,PEX6
716725,6:42932952:C>T,NM_000287.3:c.2588+38G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,6.701,0.0000961723,EXAC_AFR_AF,PEX6
716726,6:42932961:G>C,NM_000287.3:c.2588+29C>G,\N,\N,14/16,Unknown significance,\N,intron_variant,3.586,0.0000962094,EXAC_AFR_AF,PEX6
716727,6:42932963:TG>T,NM_000287.3:c.2588+26del,\N,\N,14/16,Unknown significance,\N,intron_variant,4.539,0.002,1KG_EUR_AF,PEX6
716728,6:42932970:G>A,NM_000287.3:c.2588+20C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,2.314,0.0000864454,EXAC_AMR_AF,PEX6
716729,6:42932977:A>C,NM_000287.3:c.2588+13T>G,\N,\N,14/16,Unknown significance,\N,intron_variant,5.205,0.0000149939,EXAC_NFE_AF,PEX6
716730,6:42932977:A>G,NM_000287.3:c.2588+13T>C,\N,\N,14/16,Unknown significance,\N,intron_variant,7.392,0.0000864603,EXAC_AMR_AF,PEX6
716731,6:42932978:C>G,NM_000287.3:c.2588+12G>C,\N,\N,14/16,Unknown significance,\N,intron_variant,6.469,0.0000149948,EXAC_NFE_AF,PEX6
716732,6:42932984:G>A,NM_000287.3:c.2588+6C>T,\N,\N,14/16,Unknown significance,\N,splice_region_variant&intron_variant,8.921,0.0000149966,EXAC_NFE_AF,PEX6
716733,6:42932985:C>T,NM_000287.3:c.2588+5G>A,\N,\N,14/16,Unknown significance,\N,splice_region_variant&intron_variant,8.91,0.000121124,EXAC_SAS_AF,PEX6
716734,6:42932990:C>T,NM_000287.3:c.2588G>A,NP_000278.3:p.Arg863Lys,14/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000014997,EXAC_NFE_AF,PEX6
716735,6:42932992:G>T,NM_000287.3:c.2586C>A,NP_000278.3:p.Gly862=,14/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.46,0.0000299868,EXAC_NFE_AF,PEX6
716736,6:42932993:C>A,NM_000287.3:c.2585G>T,NP_000278.3:p.Gly862Val,14/17,\N,Unknown significance,\N,missense_variant,34,0.0000149943,EXAC_NFE_AF,PEX6
716737,6:42932997:G>C,NM_000287.3:c.2581C>G,NP_000278.3:p.Pro861Ala,14/17,\N,Unknown significance,\N,missense_variant,27.7,0.000121124,EXAC_SAS_AF,PEX6
716738,6:42932999:C>T,NM_000287.3:c.2579G>A,NP_000278.3:p.Arg860Gln,14/17,\N,Pathogenic,Zellweger syndrome C,missense_variant,35,0.0000149979,EXAC_NFE_AF,PEX6
716739,6:42933000:G>A,NM_000287.3:c.2578C>T,NP_000278.3:p.Arg860Trp,14/17,\N,Pathogenic,Zellweger syndrome C,missense_variant,34,\N,\N,PEX6
716740,6:42933019:G>A,NM_000287.3:c.2559C>T,NP_000278.3:p.Leu853=,14/17,\N,Unknown significance,\N,synonymous_variant,11.85,0.0000149948,EXAC_NFE_AF,PEX6
716741,6:42933027:G>A,NM_000287.3:c.2551C>T,NP_000278.3:p.Pro851Ser,14/17,\N,Unknown significance,\N,missense_variant,33,0.000116279,EVS_EA_AF,PEX6
716742,6:42933032:T>G,NM_000287.3:c.2546A>C,NP_000278.3:p.Asn849Thr,14/17,\N,Pathogenic,Zellweger syndrome C,missense_variant,29.4,\N,\N,PEX6
716743,6:42933039:C>A,NM_000287.3:c.2539G>T,NP_000278.3:p.Ala847Ser,14/17,\N,Unknown significance,\N,missense_variant,34,0.0000605694,EXAC_SAS_AF,PEX6
716744,6:42933039:C>T,NM_000287.3:c.2539G>A,NP_000278.3:p.Ala847Thr,14/17,\N,Unknown significance,\N,missense_variant,34,0.0000605694,EXAC_SAS_AF,PEX6
716745,6:42933042:C>T,NM_000287.3:c.2536G>A,NP_000278.3:p.Gly846Arg,14/17,\N,Unknown significance,\N,missense_variant,34,0.0000605694,EXAC_SAS_AF,PEX6
716746,6:42933044:A>G,NM_000287.3:c.2534T>C,NP_000278.3:p.Ile845Thr,14/17,\N,Likely pathogenic,Peroxisome biogenesis disorder,missense_variant,27.9,0.0014,1KG_AMR_AF,PEX6
716747,6:42933047:A>G,NM_000287.3:c.2531T>C,NP_000278.3:p.Val844Ala,14/17,\N,Benign,\N,missense_variant,27.9,0.00913295,EXAC_EAS_AF,PEX6
716748,6:42933054:C>T,NM_000287.3:c.2524G>A,NP_000278.3:p.Val842Met,14/17,\N,Unknown significance,\N,missense_variant,34,0.000577901,EXAC_EAS_AF,PEX6
716749,6:42933066:T>C,NM_000287.3:c.2512A>G,NP_000278.3:p.Ser838Gly,14/17,\N,Unknown significance,\N,missense_variant,19.45,0.0000600024,EXAC_NFE_AF,PEX6
716750,6:42933068:T>C,NM_000287.3:c.2510A>G,NP_000278.3:p.His837Arg,14/17,\N,Unknown significance,\N,missense_variant,23.8,0.000115607,EXAC_EAS_AF,PEX6
716751,6:42933072:G>T,NM_000287.3:c.2506C>A,NP_000278.3:p.Leu836Met,14/17,\N,Unknown significance,\N,missense_variant,23.3,0.0000150024,EXAC_NFE_AF,PEX6
716752,6:42933084:C>T,NM_000287.3:c.2494G>A,NP_000278.3:p.Glu832Lys,14/17,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_SAS_AF,PEX6
716753,6:42933085:G>A,NM_000287.3:c.2493C>T,NP_000278.3:p.Ala831=,14/17,\N,Unknown significance,\N,synonymous_variant,13.67,0.000060584,EXAC_SAS_AF,PEX6
716754,6:42933090:G>A,NM_000287.3:c.2488C>T,NP_000278.3:p.Leu830Phe,14/17,\N,Unknown significance,\N,missense_variant,28.3,0.0000150087,EXAC_NFE_AF,PEX6
716755,6:42933096:G>A,NM_000287.3:c.2482C>T,NP_000278.3:p.Gln828Ter,14/17,\N,Pathogenic,Zellweger syndrome,stop_gained,48,\N,\N,PEX6
716756,6:42933108:T>C,NM_000287.3:c.2472-2A>G,\N,\N,13/16,Unknown significance,\N,splice_acceptor_variant,23.5,\N,\N,PEX6
716757,6:42933119:G>A,NM_000287.3:c.2472-13C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,4.942,0.0000150331,EXAC_NFE_AF,PEX6
716758,6:42933140:G>A,NM_000287.3:c.2472-34C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,12.7,0.0000150575,EXAC_NFE_AF,PEX6
716759,6:42933157:T>C,NM_000287.3:c.2472-51A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,1.047,0.0000606208,EXAC_SAS_AF,PEX6
716760,6:42933159:C>A,NM_000287.3:c.2472-53G>T,\N,\N,13/16,Unknown significance,\N,intron_variant,5.242,\N,\N,PEX6
716761,6:42933161:C>T,NM_000287.3:c.2472-55G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,5.498,0.001,1KG_SAS_AF,PEX6
716762,6:42933188:C>T,NM_000287.3:c.2472-82G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,4.756,0.001,1KG_EUR_AF,PEX6
716763,6:42933216:G>A,NM_000287.3:c.2472-110C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,7.383,0.001,1KG_SAS_AF,PEX6
716764,6:42933255:C>T,NM_000287.3:c.2472-149G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,7.982,\N,\N,PEX6
716765,6:42933321:C>T,NM_000287.3:c.2471+98G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,7.916,0.003,1KG_EUR_AF,PEX6
716766,6:42933344:T>C,NM_000287.3:c.2471+75A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,12.28,0.002,1KG_EUR_AF,PEX6
716767,6:42933370:T>C,NM_000287.3:c.2471+49A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,5.88,0.0008,1KG_AFR_AF,PEX6
716768,6:42933382:T>C,NM_000287.3:c.2471+37A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,5.424,0.0000149862,EXAC_NFE_AF,PEX6
716769,6:42933383:G>A,NM_000287.3:c.2471+36C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,5.751,0.000115607,EXAC_EAS_AF,PEX6
716770,6:42933385:AC>A,NM_000287.3:c.2471+33del,\N,\N,13/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
716771,6:42933392:A>G,NM_000287.3:c.2471+27T>C,\N,\N,13/16,Unknown significance,\N,intron_variant,9.315,0.0000605694,EXAC_SAS_AF,PEX6
716772,6:42933413:C>T,NM_000287.3:c.2471+6G>A,\N,\N,13/16,Unknown significance,\N,splice_region_variant&intron_variant,11.11,\N,\N,PEX6
716773,6:42933431:C>T,NM_000287.3:c.2459G>A,NP_000278.3:p.Gly820Glu,13/17,\N,Unknown significance,\N,missense_variant,34,0.0008,1KG_AFR_AF,PEX6
716774,6:42933439:A>G,NM_000287.3:c.2451T>C,NP_000278.3:p.Asp817=,13/17,\N,Unknown significance,\N,synonymous_variant,8.417,0.000116279,EVS_EA_AF,PEX6
716775,6:42933447:T>C,NM_000287.3:c.2443A>G,NP_000278.3:p.Ser815Gly,13/17,\N,Unknown significance,\N,missense_variant,28.2,0.000060562,EXAC_SAS_AF,PEX6
716776,6:42933449:C>T,NM_000287.3:c.2441G>A,NP_000278.3:p.Arg814Gln,13/17,\N,Unknown significance,\N,missense_variant,24.8,0.000259112,EXAC_AMR_AF,PEX6
716777,6:42933450:G>A,NM_000287.3:c.2440C>T,NP_000278.3:p.Arg814Ter,13/17,\N,Pathogenic,Zellweger syndrome,stop_gained,47,0.000115634,EXAC_EAS_AF,PEX6
716778,6:42933451:C>T,NM_000287.3:c.2439G>A,NP_000278.3:p.Gly813=,13/17,\N,Unknown significance,\N,synonymous_variant,17.93,0.000226963,EVS_AA_AF,PEX6
716779,6:42933454:C>T,NM_000287.3:c.2436G>A,NP_000278.3:p.Arg812=,13/17,\N,Benign,\N,synonymous_variant,18.93,0.0091,1KG_AFR_AF,PEX6
716780,6:42933455:C>T,NM_000287.3:c.2435G>A,NP_000278.3:p.Arg812Gln,13/17,\N,Pathogenic,Zellweger syndrome C,missense_variant,35,0.0000863707,EXAC_AMR_AF,PEX6
716781,6:42933456:G>A,NM_000287.3:c.2434C>T,NP_000278.3:p.Arg812Trp,13/17,\N,Pathogenic,Zellweger syndrome C,missense_variant,35,\N,\N,PEX6
716782,6:42933457:G>C,NM_000287.3:c.2433C>G,NP_000278.3:p.Ser811Arg,13/17,\N,Likely benign,\N,missense_variant,23.7,0.000060562,EXAC_SAS_AF,PEX6
716783,6:42933458:C>T,NM_000287.3:c.2432G>A,NP_000278.3:p.Ser811Asn,13/17,\N,Likely benign,\N,missense_variant,16.18,0.000060562,EXAC_SAS_AF,PEX6
716784,6:42933464:G>A,NM_000287.3:c.2426C>T,NP_000278.3:p.Ala809Val,13/17,\N,Benign,\N,missense_variant,34,0.1362,1KG_AFR_AF,PEX6
716785,6:42933472:GTCC>G,NM_000287.3:c.2415_2417del,NP_000278.3:p.Asp806del,13/17,\N,Unknown significance,\N,inframe_deletion,22.5,\N,\N,PEX6
716786,6:42933473:TCCAGTTCATCAAAGAAGAT>A,NM_000287.3:c.2398_2417delinsT,NP_000278.3:p.Ile800SerfsTer16,13/17,\N,Pathogenic,Peroxisome biogenesis disorder 4,frameshift_variant,\N,\N,\N,PEX6
716787,6:42933476:AGTTCATCAAAGAAGAT>A,NM_000287.3:c.2398_2413del,NP_000278.3:p.Ile800TrpfsTer17,13/17,\N,Unknown significance,\N,frameshift_variant,36,\N,\N,PEX6
716788,6:42933490:G>A,NM_000287.3:c.2400C>T,NP_000278.3:p.Ile800=,13/17,\N,Unknown significance,\N,synonymous_variant,17.17,\N,\N,PEX6
716789,6:42933491:A>G,NM_000287.3:c.2399T>C,NP_000278.3:p.Ile800Thr,13/17,\N,Unknown significance,\N,missense_variant,29.2,0.0000150065,EXAC_NFE_AF,PEX6
716790,6:42933492:T>C,NM_000287.3:c.2398A>G,NP_000278.3:p.Ile800Val,13/17,\N,Unknown significance,\N,missense_variant,23.2,0.0000605767,EXAC_SAS_AF,PEX6
716791,6:42933493:A>G,NM_000287.3:c.2397T>C,NP_000278.3:p.Ile799=,13/17,\N,Unknown significance,\N,synonymous_variant,10.67,0.0000450234,EXAC_NFE_AF,PEX6
716792,6:42933506:G>A,NM_000287.3:c.2384C>T,NP_000278.3:p.Ala795Val,13/17,\N,Unknown significance,\N,missense_variant,34,0.000115794,EXAC_EAS_AF,PEX6
716793,6:42933506:G>T,NM_000287.3:c.2384C>A,NP_000278.3:p.Ala795Glu,13/17,\N,Unknown significance,\N,missense_variant,33,0.0000150358,EXAC_NFE_AF,PEX6
716794,6:42933508:A>G,NM_000287.3:c.2382T>C,NP_000278.3:p.Ala794=,13/17,\N,Unknown significance,\N,synonymous_variant,10.99,0.000121183,EXAC_SAS_AF,PEX6
716795,6:42933515:G>A,NM_000287.3:c.2375C>T,NP_000278.3:p.Ala792Val,13/17,\N,Unknown significance,\N,missense_variant,34,0.002,1KG_SAS_AF,PEX6
716796,6:42933524:AAC>A,NM_000287.3:c.2364_2365del,NP_000278.3:p.Phe789CysfsTer14,13/17,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,\N,\N,PEX6
716797,6:42933526:C>T,NM_000287.3:c.2364G>A,NP_000278.3:p.Val788=,13/17,\N,Benign,\N,splice_region_variant&synonymous_variant,15.94,0.219761,EXAC_AMR_AF,PEX6
716798,6:42933537:G>C,NM_000287.3:c.2363-10C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,11.02,0.000116279,EVS_EA_AF,PEX6
716799,6:42933539:G>C,NM_000287.3:c.2363-12C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,0.217,0.0000151745,EXAC_NFE_AF,PEX6
716800,6:42933543:G>A,NM_000287.3:c.2363-16C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,5.17,0.0000606575,EXAC_SAS_AF,PEX6
716801,6:42933544:G>T,NM_000287.3:c.2363-17C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,1.577,0.0000152124,EXAC_NFE_AF,PEX6
716802,6:42933550:AG>A,NM_000287.3:c.2363-24del,\N,\N,12/16,Unknown significance,\N,intron_variant,4.6,0.000116496,EXAC_EAS_AF,PEX6
716803,6:42933557:C>T,NM_000287.3:c.2363-30G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,0.7,0.0000152989,EXAC_NFE_AF,PEX6
716804,6:42933564:C>T,NM_000287.3:c.2363-37G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,3.57,0.000209688,EXAC_AFR_AF,PEX6
716805,6:42933565:G>A,NM_000287.3:c.2363-38C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,3.026,0.001,1KG_EAS_AF,PEX6
716806,6:42933565:G>C,NM_000287.3:c.2363-38C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,0.611,0.0000606796,EXAC_SAS_AF,PEX6
716807,6:42933570:G>GT,NM_000287.3:c.2363-44dup,\N,\N,12/16,Unknown significance,\N,intron_variant,0.493,\N,\N,PEX6
716808,6:42933572:G>A,NM_000287.3:c.2363-45C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,0.131,0.0008,1KG_AFR_AF,PEX6
716809,6:42933572:G>C,NM_000287.3:c.2363-45C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,0.024,0.000211372,EXAC_AFR_AF,PEX6
716810,6:42933572:G>T,NM_000287.3:c.2363-45C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,0.051,0.000153718,EXAC_NFE_AF,PEX6
716811,6:42933575:G>A,NM_000287.3:c.2363-48C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,4.279,0.00105619,EXAC_AFR_AF,PEX6
716812,6:42933577:G>C,NM_000287.3:c.2363-50C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,0.573,0.0000153894,EXAC_NFE_AF,PEX6
716813,6:42933593:A>G,NM_000287.3:c.2363-66T>C,\N,\N,12/16,Unknown significance,\N,intron_variant,4.278,0.0008,1KG_AFR_AF,PEX6
716814,6:42933656:G>A,NM_000287.3:c.2362+126C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,7.645,0.0038,1KG_AFR_AF,PEX6
716815,6:42933658:C>T,NM_000287.3:c.2362+124G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,8.884,\N,\N,PEX6
716816,6:42933693:G>A,NM_000287.3:c.2362+89C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,8.138,\N,\N,PEX6
716817,6:42933712:G>A,NM_000287.3:c.2362+70C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,5.625,0.001,1KG_EAS_AF,PEX6
716818,6:42933735:C>T,NM_000287.3:c.2362+47G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,4.499,0.000465116,EVS_EA_AF,PEX6
716819,6:42933736:G>A,NM_000287.3:c.2362+46C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,0.381,0.000848588,EXAC_SAS_AF,PEX6
716820,6:42933746:A>C,NM_000287.3:c.2362+36T>G,\N,\N,12/16,Benign,\N,intron_variant,3.653,0.0098,1KG_AFR_AF,PEX6
716821,6:42933751:T>TG,NM_000287.3:c.2362+30dup,\N,\N,12/16,Unknown significance,\N,intron_variant,4.838,0.000289967,EXAC_AFR_AF,PEX6
716822,6:42933755:A>AG,NM_000287.3:c.2362+26_2362+27insC,\N,\N,12/16,Unknown significance,\N,intron_variant,8.243,0.000135034,EXAC_NFE_AF,PEX6
716823,6:42933756:C>A,NM_000287.3:c.2362+26G>T,\N,\N,12/16,Unknown significance,\N,intron_variant,9.894,0.000135042,EXAC_NFE_AF,PEX6
716824,6:42933756:C>T,NM_000287.3:c.2362+26G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,9.892,0.0000300093,EXAC_NFE_AF,PEX6
716825,6:42933757:G>A,NM_000287.3:c.2362+25C>T,\N,\N,12/16,Unknown significance,\N,intron_variant,11.6,0.001,1KG_EAS_AF,PEX6
716826,6:42933757:G>T,NM_000287.3:c.2362+25C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,9.899,0.0000150015,EXAC_NFE_AF,PEX6
716827,6:42933762:G>T,NM_000287.3:c.2362+20C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,13.41,0.000115848,EXAC_EAS_AF,PEX6
716828,6:42933765:C>T,NM_000287.3:c.2362+17G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,14.94,0.000116279,EVS_EA_AF,PEX6
716829,6:42933767:T>C,NM_000287.3:c.2362+15A>G,\N,\N,12/16,Unknown significance,\N,intron_variant,13.96,0.0000299931,EXAC_NFE_AF,PEX6
716830,6:42933768:C>T,NM_000287.3:c.2362+14G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,15.53,0.0000149943,EXAC_NFE_AF,PEX6
716831,6:42933769:C>T,NM_000287.3:c.2362+13G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,15.32,0.000121183,EXAC_SAS_AF,PEX6
716832,6:42933772:G>T,NM_000287.3:c.2362+10C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,13.06,0.0000149925,EXAC_NFE_AF,PEX6
716833,6:42933773:C>T,NM_000287.3:c.2362+9G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,18.16,0.0000149925,EXAC_NFE_AF,PEX6
716834,6:42933782:C>T,NM_000287.3:c.2362G>A,NP_000278.3:p.Val788Met,12/17,\N,Pathogenic,Neonatal adrenoleukodystrophy,missense_variant&splice_region_variant,34,\N,\N,PEX6
716835,6:42933785:C>T,NM_000287.3:c.2359G>A,NP_000278.3:p.Glu787Lys,12/17,\N,Unknown significance,\N,missense_variant,23.5,0.000704458,EXAC_NFE_AF,PEX6
716836,6:42933787:C>T,NM_000287.3:c.2357G>A,NP_000278.3:p.Arg786Gln,12/17,\N,Unknown significance,\N,missense_variant,35,0.0000962649,EXAC_AFR_AF,PEX6
716837,6:42933788:G>A,NM_000287.3:c.2356C>T,NP_000278.3:p.Arg786Trp,12/17,\N,Pathogenic,Zellweger syndrome,missense_variant,34,\N,\N,PEX6
716838,6:42933790:A>G,NM_000287.3:c.2354T>C,NP_000278.3:p.Val785Ala,12/17,\N,Unknown significance,\N,missense_variant,29.7,0.000014988,EXAC_NFE_AF,PEX6
716839,6:42933791:C>T,NM_000287.3:c.2353G>A,NP_000278.3:p.Val785Met,12/17,\N,Unknown significance,\N,missense_variant,33,0.0000149876,EXAC_NFE_AF,PEX6
716840,6:42933797:C>T,NM_000287.3:c.2347G>A,NP_000278.3:p.Glu783Lys,12/17,\N,Unknown significance,\N,missense_variant,32,0.0000149862,EXAC_NFE_AF,PEX6
716841,6:42933812:C>T,NM_000287.3:c.2332G>A,NP_000278.3:p.Val778Met,12/17,\N,Unknown significance,\N,missense_variant,34,0.000346821,EXAC_EAS_AF,PEX6
716842,6:42933813:A>G,NM_000287.3:c.2331T>C,NP_000278.3:p.Tyr777=,12/17,\N,Unknown significance,\N,synonymous_variant,0.786,0.0000605694,EXAC_SAS_AF,PEX6
716843,6:42933814:T>C,NM_000287.3:c.2330A>G,NP_000278.3:p.Tyr777Cys,12/17,\N,Unknown significance,\N,missense_variant,29.7,0.000115607,EXAC_EAS_AF,PEX6
716844,6:42933828:C>A,NM_000287.3:c.2316G>T,NP_000278.3:p.Glu772Asp,12/17,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_EAS_AF,PEX6
716845,6:42933834:C>T,NM_000287.3:c.2310G>A,NP_000278.3:p.Gly770=,12/17,\N,Unknown significance,\N,synonymous_variant,17.5,0.0000299688,EXAC_NFE_AF,PEX6
716846,6:42933843:G>A,NM_000287.3:c.2301C>T,NP_000278.3:p.Ser767=,12/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.5,0.000115607,EXAC_EAS_AF,PEX6
716847,6:42933844:CTGAG>C,NM_000287.3:c.2301-5_2301-2del,\N,\N,11/16,Unknown significance,\N,splice_acceptor_variant&intron_variant,26,0.0000749221,EXAC_NFE_AF,PEX6
716848,6:42933846:G>A,NM_000287.3:c.2301-3C>T,\N,\N,11/16,Unknown significance,\N,splice_region_variant&intron_variant,12.79,0.000115607,EXAC_EAS_AF,PEX6
716849,6:42933848:G>C,NM_000287.3:c.2301-5C>G,\N,\N,11/16,Pathogenic,Zellweger syndrome,splice_region_variant&intron_variant,7.387,\N,\N,PEX6
716850,6:42933854:G>A,NM_000287.3:c.2301-11C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,9.612,\N,\N,PEX6
716851,6:42933858:G>C,NM_000287.3:c.2301-15C>G,\N,\N,11/16,Pathogenic,Zellweger syndrome,intron_variant,2.782,\N,\N,PEX6
716852,6:42933859:T>G,NM_000287.3:c.2301-16A>C,\N,\N,11/16,Unknown significance,\N,intron_variant,7.56,0.000302389,EXAC_FIN_AF,PEX6
716853,6:42933872:G>A,NM_000287.3:c.2301-29C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,3.851,0.00240338,EXAC_AFR_AF,PEX6
716854,6:42933874:C>T,NM_000287.3:c.2301-31G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,4.97,0.00181571,EVS_AA_AF,PEX6
716855,6:42933875:G>A,NM_000287.3:c.2301-32C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,0.617,0.001,1KG_SAS_AF,PEX6
716856,6:42933879:G>A,NM_000287.3:c.2301-36C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,7.591,0.000119947,EXAC_NFE_AF,PEX6
716857,6:42933882:G>A,NM_000287.3:c.2301-39C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,3.928,0.0000149939,EXAC_NFE_AF,PEX6
716858,6:42933934:T>C,NM_000287.3:c.2300+46A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,7.552,0.000608484,EXAC_AMR_AF,PEX6
716859,6:42933941:C>A,NM_000287.3:c.2300+39G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,10.79,0.000015124,EXAC_NFE_AF,PEX6
716860,6:42933941:C>G,NM_000287.3:c.2300+39G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,9.638,0.000015124,EXAC_NFE_AF,PEX6
716861,6:42933943:T>TGATCCACC,NM_000287.3:c.2300+29_2300+36dup,\N,\N,11/16,Unknown significance,\N,intron_variant,8.931,0.000121344,EXAC_SAS_AF,PEX6
716862,6:42933944:G>T,NM_000287.3:c.2300+36C>A,\N,\N,11/16,Unknown significance,\N,intron_variant,8.812,0.000116279,EVS_EA_AF,PEX6
716863,6:42933945:A>G,NM_000287.3:c.2300+35T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,14.45,0.000116279,EVS_EA_AF,PEX6
716864,6:42933952:C>T,NM_000287.3:c.2300+28G>A,\N,\N,11/16,Pathogenic,Zellweger syndrome,intron_variant,10.64,\N,\N,PEX6
716865,6:42933954:C>T,NM_000287.3:c.2300+26G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,8.061,0.0001213,EXAC_SAS_AF,PEX6
716866,6:42933958:C>T,NM_000287.3:c.2300+22G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,8.865,0.000121315,EXAC_SAS_AF,PEX6
716867,6:42933969:C>T,NM_000287.3:c.2300+11G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.411,0.0000606943,EXAC_SAS_AF,PEX6
716868,6:42933995:C>T,NM_000287.3:c.2285G>A,NP_000278.3:p.Ser762Asn,11/17,\N,Unknown significance,\N,missense_variant,23.2,0.000116523,EXAC_EAS_AF,PEX6
716869,6:42934000:C>T,NM_000287.3:c.2280G>A,NP_000278.3:p.Glu760=,11/17,\N,Unknown significance,\N,synonymous_variant,9.283,0.0008,1KG_AFR_AF,PEX6
716870,6:42934005:T>C,NM_000287.3:c.2275A>G,NP_000278.3:p.Thr759Ala,11/17,\N,Unknown significance,\N,missense_variant,24.5,0.0000871688,EXAC_AMR_AF,PEX6
716871,6:42934013:G>A,NM_000287.3:c.2267C>T,NP_000278.3:p.Ala756Val,11/17,\N,Unknown significance,\N,missense_variant,28.6,0.0000152886,EXAC_NFE_AF,PEX6
716872,6:42934019:G>A,NM_000287.3:c.2261C>T,NP_000278.3:p.Ala754Val,11/17,\N,Unknown significance,\N,missense_variant,25.9,0.000060687,EXAC_SAS_AF,PEX6
716873,6:42934023:G>A,NM_000287.3:c.2257C>T,NP_000278.3:p.Leu753=,11/17,\N,Unknown significance,\N,synonymous_variant,9.708,0.0000611116,EXAC_NFE_AF,PEX6
716874,6:42934026:G>C,NM_000287.3:c.2254C>G,NP_000278.3:p.Leu752Val,11/17,\N,Unknown significance,\N,missense_variant,24,0.000226963,EVS_AA_AF,PEX6
716875,6:42934027:G>T,NM_000287.3:c.2253C>A,NP_000278.3:p.Thr751=,11/17,\N,Unknown significance,\N,synonymous_variant,1.451,0.000116279,EVS_EA_AF,PEX6
716876,6:42934033:G>T,NM_000287.3:c.2247C>A,NP_000278.3:p.Gly749=,11/17,\N,Unknown significance,\N,synonymous_variant,1.996,0.000174186,EXAC_AMR_AF,PEX6
716877,6:42934036:G>A,NM_000287.3:c.2244C>T,NP_000278.3:p.Thr748=,11/17,\N,Unknown significance,\N,synonymous_variant,9.864,0.000232558,EVS_EA_AF,PEX6
716878,6:42934046:G>A,NM_000287.3:c.2234C>T,NP_000278.3:p.Pro745Leu,11/17,\N,Unknown significance,\N,missense_variant,27.6,\N,\N,PEX6
716879,6:42934047:G>A,NM_000287.3:c.2233C>T,NP_000278.3:p.Pro745Ser,11/17,\N,Unknown significance,\N,missense_variant,26.3,0.0000152565,EXAC_NFE_AF,PEX6
716880,6:42934051:A>G,NM_000287.3:c.2229T>C,NP_000278.3:p.His743=,11/17,\N,Unknown significance,\N,synonymous_variant,0.316,0.000467617,EXAC_EAS_AF,PEX6
716881,6:42934055:A>G,NM_000287.3:c.2225T>C,NP_000278.3:p.Leu742Pro,11/17,\N,Pathogenic,Zellweger syndrome,missense_variant,26.3,0.000381109,EXAC_NFE_AF,PEX6
716882,6:42934059:G>A,NM_000287.3:c.2221C>T,NP_000278.3:p.Leu741=,11/17,\N,Unknown significance,\N,synonymous_variant,3.958,0.001,1KG_SAS_AF,PEX6
716883,6:42934061:A>C,NM_000287.3:c.2219T>G,NP_000278.3:p.Leu740Arg,11/17,\N,Unknown significance,\N,missense_variant,26.2,0.000226963,EVS_AA_AF,PEX6
716884,6:42934062:GGCCTGAGCGTC>G,NM_000287.3:c.2207_2217del,NP_000278.3:p.Arg736ThrfsTer21,11/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,35,\N,\N,PEX6
716885,6:42934070:C>T,NM_000287.3:c.2210G>A,NP_000278.3:p.Arg737His,11/17,\N,Unknown significance,\N,missense_variant,34,0.0000456691,EXAC_NFE_AF,PEX6
716886,6:42934071:G>A,NM_000287.3:c.2209C>T,NP_000278.3:p.Arg737Cys,11/17,\N,Unknown significance,\N,missense_variant,34,0.000226963,EVS_AA_AF,PEX6
716887,6:42934085:C>A,NM_000287.3:c.2195G>T,NP_000278.3:p.Ser732Ile,11/17,\N,Unknown significance,\N,missense_variant,24.3,0.0000984834,EXAC_AFR_AF,PEX6
716888,6:42934091:A>G,NM_000287.3:c.2189T>C,NP_000278.3:p.Leu730Pro,11/17,\N,Unknown significance,\N,missense_variant,29.6,0.0000606134,EXAC_SAS_AF,PEX6
716889,6:42934097:G>A,NM_000287.3:c.2183C>T,NP_000278.3:p.Pro728Leu,11/17,\N,Unknown significance,\N,missense_variant,33,0.000439248,EXAC_NFE_AF,PEX6
716890,6:42934098:G>A,NM_000287.3:c.2182C>T,NP_000278.3:p.Pro728Ser,11/17,\N,Unknown significance,\N,missense_variant,31,0.002,1KG_SAS_AF,PEX6
716891,6:42934107:G>T,NM_000287.3:c.2173C>A,NP_000278.3:p.Leu725Met,11/17,\N,Unknown significance,\N,missense_variant,27.5,\N,\N,PEX6
716892,6:42934109:G>A,NM_000287.3:c.2171C>T,NP_000278.3:p.Pro724Leu,11/17,\N,Unknown significance,\N,missense_variant,33,0.0008,1KG_AFR_AF,PEX6
716893,6:42934114:C>G,NM_000287.3:c.2166G>C,NP_000278.3:p.Gln722His,11/17,\N,Unknown significance,\N,missense_variant,27.7,0.0000150793,EXAC_NFE_AF,PEX6
716894,6:42934118:A>AG,NM_000287.3:c.2161_2162insC,NP_000278.3:p.Ile721ThrfsTer9,11/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
716895,6:42934126:C>T,NM_000287.3:c.2154G>A,NP_000278.3:p.Leu718=,11/17,\N,Unknown significance,\N,synonymous_variant,14.39,0.000115955,EXAC_EAS_AF,PEX6
716896,6:42934132:C>T,NM_000287.3:c.2148G>A,NP_000278.3:p.Glu716=,11/17,\N,Unknown significance,\N,synonymous_variant,15.01,\N,\N,PEX6
716897,6:42934138:C>A,NM_000287.3:c.2142G>T,NP_000278.3:p.Lys714Asn,11/17,\N,Unknown significance,\N,missense_variant,32,0.000116279,EVS_EA_AF,PEX6
716898,6:42934138:C>T,NM_000287.3:c.2142G>A,NP_000278.3:p.Lys714=,11/17,\N,Unknown significance,\N,synonymous_variant,16.81,0.0000150331,EXAC_NFE_AF,PEX6
716899,6:42934139:T>C,NM_000287.3:c.2141A>G,NP_000278.3:p.Lys714Arg,11/17,\N,Unknown significance,\N,missense_variant,26.8,0.001,1KG_EAS_AF,PEX6
716900,6:42934154:C>T,NM_000287.3:c.2126G>A,NP_000278.3:p.Gly709Glu,11/17,\N,Unknown significance,\N,missense_variant,33,0.0000605767,EXAC_SAS_AF,PEX6
716901,6:42934156:A>G,NM_000287.3:c.2124T>C,NP_000278.3:p.Gly708=,11/17,\N,Unknown significance,\N,synonymous_variant,14.3,0.000116279,EVS_EA_AF,PEX6
716902,6:42934160:A>C,NM_000287.3:c.2120T>G,NP_000278.3:p.Val707Gly,11/17,\N,Likely pathogenic,Zellweger syndrome,missense_variant,27.8,0.0000150177,EXAC_NFE_AF,PEX6
716903,6:42934166:T>C,NM_000287.3:c.2114A>G,NP_000278.3:p.His705Arg,11/17,\N,Unknown significance,\N,missense_variant,18.88,\N,\N,PEX6
716904,6:42934169:C>G,NM_000287.3:c.2111G>C,NP_000278.3:p.Trp704Ser,11/17,\N,Unknown significance,\N,missense_variant,34,0.0000150119,EXAC_NFE_AF,PEX6
716905,6:42934176:C>T,NM_000287.3:c.2104G>A,NP_000278.3:p.Val702Met,11/17,\N,Unknown significance,\N,missense_variant,34,0.000289017,EXAC_AFR_AF,PEX6
716906,6:42934187:T>C,NM_000287.3:c.2095-2A>G,\N,\N,10/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,25.4,\N,\N,PEX6
716907,6:42934190:G>T,NM_000287.3:c.2095-5C>A,\N,\N,10/16,Unknown significance,\N,splice_region_variant&intron_variant,12.02,0.000060562,EXAC_SAS_AF,PEX6
716908,6:42934192:G>T,NM_000287.3:c.2095-7C>A,\N,\N,10/16,Unknown significance,\N,splice_region_variant&intron_variant,11.98,0.0000150065,EXAC_NFE_AF,PEX6
716909,6:42934194:TGGAAAGTGCGTG>T,NM_000287.3:c.2095-21_2095-10del,\N,\N,10/16,Unknown significance,\N,intron_variant,9.747,\N,\N,PEX6
716910,6:42934197:A>C,NM_000287.3:c.2095-12T>G,\N,\N,10/16,Unknown significance,\N,intron_variant,3.683,0.0000150065,EXAC_NFE_AF,PEX6
716911,6:42934197:A>T,NM_000287.3:c.2095-12T>A,\N,\N,10/16,Unknown significance,\N,intron_variant,4.434,0.0000864753,EXAC_AMR_AF,PEX6
716912,6:42934203:C>T,NM_000287.3:c.2095-18G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,4.28,0.000116279,EVS_EA_AF,PEX6
716913,6:42934204:G>A,NM_000287.3:c.2095-19C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,0.59,0.001,1KG_EUR_AF,PEX6
716914,6:42934206:G>C,NM_000287.3:c.2095-21C>G,\N,\N,10/16,Unknown significance,\N,intron_variant,1.691,0.000346821,EXAC_EAS_AF,PEX6
716915,6:42934207:G>T,NM_000287.3:c.2095-22C>A,\N,\N,10/16,Unknown significance,\N,intron_variant,4.152,0.0000150029,EXAC_NFE_AF,PEX6
716916,6:42934210:G>A,NM_000287.3:c.2095-25C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,10.87,0.0000450099,EXAC_NFE_AF,PEX6
716917,6:42934218:C>G,NM_000287.3:c.2095-33G>C,\N,\N,10/16,Unknown significance,\N,intron_variant,5.629,0.000115607,EXAC_EAS_AF,PEX6
716918,6:42934220:C>G,NM_000287.3:c.2095-35G>C,\N,\N,10/16,Unknown significance,\N,intron_variant,2.761,0.000226963,EVS_AA_AF,PEX6
716919,6:42934227:G>A,NM_000287.3:c.2094+36C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,16.28,\N,\N,PEX6
716920,6:42934229:G>A,NM_000287.3:c.2094+34C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,18.37,0.000116279,EVS_EA_AF,PEX6
716921,6:42934235:G>A,NR_133009.1:n.2208+7C>T,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant&non_coding_transcript_variant,14.27,0.0000149939,EXAC_NFE_AF,PEX6
716922,6:42934239:C>T,NR_133009.1:n.2208+3G>A,\N,\N,10/14,Unknown significance,\N,splice_region_variant&intron_variant&non_coding_transcript_variant,16.39,0.0000299877,EXAC_NFE_AF,PEX6
716923,6:42934251:CT>C,NM_000287.3:c.2094+11del,\N,\N,10/16,Unknown significance,\N,intron_variant,6.43,0.000847868,EXAC_SAS_AF,PEX6
716924,6:42934261:A>G,NM_000287.3:c.2094+2T>C,\N,\N,10/16,Pathogenic,Peroxisome biogenesis disorder,splice_donor_variant,24.4,\N,\N,PEX6
716925,6:42934268:G>A,NM_000287.3:c.2089C>T,NP_000278.3:p.Pro697Ser,10/17,\N,Unknown significance,\N,missense_variant,27.8,0.0008,1KG_AFR_AF,PEX6
716926,6:42934274:CA>C,NM_000287.3:c.2082del,NP_000278.3:p.Gly695GlufsTer19,10/17,\N,Unknown significance,\N,frameshift_variant,18.52,\N,\N,PEX6
716927,6:42934277:C>T,NM_000287.3:c.2080G>A,NP_000278.3:p.Val694Ile,10/17,\N,Likely benign,\N,missense_variant,0.089,0.0014,1KG_AMR_AF,PEX6
716928,6:42934278:G>A,NM_000287.3:c.2079C>T,NP_000278.3:p.Ala693=,10/17,\N,Unknown significance,\N,synonymous_variant,9.023,0.0000863707,EXAC_AMR_AF,PEX6
716929,6:42934279:G>T,NM_000287.3:c.2078C>A,NP_000278.3:p.Ala693Asp,10/17,\N,Unknown significance,\N,missense_variant,27.5,0.00190016,EXAC_AMR_AF,PEX6
716930,6:42934283:G>A,NM_000287.3:c.2074C>T,NP_000278.3:p.Gln692Ter,10/17,\N,Unknown significance,\N,stop_gained,36,\N,\N,PEX6
716931,6:42934302:T>A,NM_000287.3:c.2055A>T,NP_000278.3:p.Gln685His,10/17,\N,Likely benign,\N,missense_variant,5.204,0.000181686,EXAC_SAS_AF,PEX6
716932,6:42934304:G>C,NM_000287.3:c.2053C>G,NP_000278.3:p.Gln685Glu,10/17,\N,Unknown significance,\N,missense_variant,0.008,0.000151194,EXAC_FIN_AF,PEX6
716933,6:42934309:A>G,NM_000287.3:c.2048T>C,NP_000278.3:p.Leu683Pro,10/17,\N,Likely pathogenic,Zellweger syndrome,missense_variant,26.1,\N,\N,PEX6
716934,6:42934320:A>G,NM_000287.3:c.2037T>C,NP_000278.3:p.Phe679=,10/17,\N,Unknown significance,\N,synonymous_variant,5.384,0.0000149867,EXAC_NFE_AF,PEX6
716935,6:42934331:C>T,NM_000287.3:c.2026G>A,NP_000278.3:p.Ala676Thr,10/17,\N,Unknown significance,\N,missense_variant,23.8,0.002,1KG_SAS_AF,PEX6
716936,6:42934346:C>T,NM_000287.3:c.2011G>A,NP_000278.3:p.Gly671Ser,10/17,\N,Unknown significance,\N,missense_variant,31,0.000115554,EXAC_EAS_AF,PEX6
716937,6:42934347:G>A,NM_000287.3:c.2010C>T,NP_000278.3:p.Ala670=,10/17,\N,Unknown significance,\N,synonymous_variant,13.64,0.000060562,EXAC_SAS_AF,PEX6
716938,6:42934362:C>G,NM_000287.3:c.1995G>C,NP_000278.3:p.Gly665=,10/17,\N,Unknown significance,\N,synonymous_variant,15.45,0.0000149853,EXAC_NFE_AF,PEX6
716939,6:42934364:C>A,NM_000287.3:c.1993G>T,NP_000278.3:p.Gly665Trp,10/17,\N,Unknown significance,\N,missense_variant,32,0.000259112,EXAC_AMR_AF,PEX6
716940,6:42934365:C>G,NM_000287.3:c.1992G>C,NP_000278.3:p.Glu664Asp,10/17,\N,Pathogenic,Zellweger syndrome,missense_variant,22.7,0.000116279,EVS_EA_AF,PEX6
716941,6:42934376:C>T,NM_000287.3:c.1981G>A,NP_000278.3:p.Glu661Lys,10/17,\N,Unknown significance,\N,missense_variant,23.4,0.0000961538,EXAC_AFR_AF,PEX6
716942,6:42934392:C>T,NM_000287.3:c.1965G>A,NP_000278.3:p.Leu655=,10/17,\N,Unknown significance,\N,synonymous_variant,14.32,\N,\N,PEX6
716943,6:42934394:A>G,NM_000287.3:c.1963T>C,NP_000278.3:p.Leu655=,10/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,8.987,0.0000961354,EXAC_AFR_AF,PEX6
716944,6:42934396:C>T,NM_000287.3:c.1962-1G>A,\N,\N,9/16,Pathogenic,Peroxisome biogenesis disorder 4,splice_acceptor_variant,23.6,\N,\N,PEX6
716945,6:42934399:CAA>C,NM_000287.3:c.1962-6_1962-5del,\N,\N,9/16,Unknown significance,\N,splice_region_variant&intron_variant,13.09,0.0000449532,EXAC_NFE_AF,PEX6
716946,6:42934410:A>G,NM_000287.3:c.1962-15T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,11.22,0.000151194,EXAC_FIN_AF,PEX6
716947,6:42934411:C>T,NM_000287.3:c.1962-16G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,11.08,0.000232558,EVS_EA_AF,PEX6
716948,6:42934420:C>T,NM_000287.3:c.1962-25G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,6.007,0.0000961169,EXAC_AFR_AF,PEX6
716949,6:42934421:T>G,NM_000287.3:c.1962-26A>C,\N,\N,9/16,Unknown significance,\N,intron_variant,7.511,0.0000149835,EXAC_NFE_AF,PEX6
716950,6:42934425:C>T,NM_000287.3:c.1962-30G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,7.012,0.00110375,EXAC_OTH_AF,PEX6
716951,6:42934428:C>T,NM_000287.3:c.1962-33G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,7.121,0.000060562,EXAC_SAS_AF,PEX6
716952,6:42934434:C>T,NM_000287.3:c.1962-39G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,3.204,0.000060562,EXAC_SAS_AF,PEX6
716953,6:42934435:G>A,NM_000287.3:c.1962-40C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.228,0.000151194,EXAC_FIN_AF,PEX6
716954,6:42934442:T>G,NM_000287.3:c.1962-47A>C,\N,\N,9/16,Unknown significance,\N,intron_variant,11.28,0.000363416,EXAC_SAS_AF,PEX6
716955,6:42934445:C>T,NM_000287.3:c.1962-50G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,12.33,0.0000149835,EXAC_NFE_AF,PEX6
716956,6:42934447:T>C,NM_000287.3:c.1962-52A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,11.25,0.000216544,EVS_EA_AF,PEX6
716957,6:42934478:C>A,NM_000287.3:c.1961+42G>T,\N,\N,9/16,Benign,\N,intron_variant,6.162,0.0051,1KG_SAS_AF,PEX6
716958,6:42934486:T>C,NM_000287.3:c.1961+34A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,6.598,0.0000149835,EXAC_NFE_AF,PEX6
716959,6:42934490:T>C,NM_000287.3:c.1961+30A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,4.497,0.0000863707,EXAC_AMR_AF,PEX6
716960,6:42934492:C>G,NM_000287.3:c.1961+28G>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.342,0.0000863707,EXAC_AMR_AF,PEX6
716961,6:42934492:C>T,NM_000287.3:c.1961+28G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.952,0.000060562,EXAC_SAS_AF,PEX6
716962,6:42934493:G>A,NM_000287.3:c.1961+27C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.116,0.0000149835,EXAC_NFE_AF,PEX6
716963,6:42934498:T>A,NM_000287.3:c.1961+22A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,7.459,0.000226963,EVS_AA_AF,PEX6
716964,6:42934500:C>T,NM_000287.3:c.1961+20G>A,\N,\N,9/16,Benign,\N,intron_variant,6.38,0.7617,1KG_AFR_AF,PEX6
716965,6:42934501:G>A,NM_000287.3:c.1961+19C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.321,0.00169574,EXAC_SAS_AF,PEX6
716966,6:42934504:G>T,NM_000287.3:c.1961+16C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,1.817,0.000014984,EXAC_NFE_AF,PEX6
716967,6:42934509:C>T,NM_000287.3:c.1961+11G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,5.844,0.0000299679,EXAC_NFE_AF,PEX6
716968,6:42934510:G>A,NM_000287.3:c.1961+10C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,5.661,0.000014984,EXAC_NFE_AF,PEX6
716969,6:42934516:T>G,NM_000287.3:c.1961+4A>C,\N,\N,9/16,Unknown significance,\N,splice_region_variant&intron_variant,11.92,0.000172741,EXAC_AMR_AF,PEX6
716970,6:42934523:G>A,NM_000287.3:c.1958C>T,NP_000278.3:p.Ser653Leu,9/17,\N,Unknown significance,\N,missense_variant,7.671,0.0000863707,EXAC_AMR_AF,PEX6
716971,6:42934523:G>C,NM_000287.3:c.1958C>G,NP_000278.3:p.Ser653Ter,9/17,\N,Pathogenic,Zellweger syndrome,stop_gained,34,0.0000299679,EXAC_NFE_AF,PEX6
716972,6:42934527:T>TTC,NM_000287.3:c.1953_1954insGA,NP_000278.3:p.Asn652GlufsTer9,9/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
716973,6:42934531:G>A,NM_000287.3:c.1950C>T,NP_000278.3:p.Ile650=,9/17,\N,Unknown significance,\N,synonymous_variant,14.42,0.0000863707,EXAC_AMR_AF,PEX6
716974,6:42934533:TC>T,NM_000287.3:c.1947del,NP_000278.3:p.Ile650SerfsTer10,9/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,35,0.0000961354,EXAC_AFR_AF,PEX6
716975,6:42934534:C>T,NM_000287.3:c.1947G>A,NP_000278.3:p.Arg649=,9/17,\N,Unknown significance,\N,synonymous_variant,16.68,0.000116279,EVS_EA_AF,PEX6
716976,6:42934540:G>T,NM_000287.3:c.1941C>A,NP_000278.3:p.Cys647Ter,9/17,\N,Unknown significance,\N,stop_gained,39,0.0000449546,EXAC_NFE_AF,PEX6
716977,6:42934550:C>T,NM_000287.3:c.1931G>A,NP_000278.3:p.Arg644Gln,9/17,\N,Unknown significance,\N,missense_variant,24.7,0.000259112,EXAC_AMR_AF,PEX6
716978,6:42934551:G>A,NM_000287.3:c.1930C>T,NP_000278.3:p.Arg644Trp,9/17,\N,Pathogenic,Heimler syndrome 2; HEIMLER SYNDROME 2,missense_variant,32,0.000060562,EXAC_SAS_AF,PEX6
716979,6:42934558:G>A,NM_000287.3:c.1923C>T,NP_000278.3:p.His641=,9/17,\N,Unknown significance,\N,synonymous_variant,10.68,0.0000863707,EXAC_AMR_AF,PEX6
716980,6:42934559:T>G,NM_000287.3:c.1922A>C,NP_000278.3:p.His641Pro,9/17,\N,Unknown significance,\N,missense_variant,21,0.0000299706,EXAC_NFE_AF,PEX6
716981,6:42934561:G>A,NM_000287.3:c.1920C>T,NP_000278.3:p.Thr640=,9/17,\N,Unknown significance,\N,synonymous_variant,11.59,0.000060562,EXAC_SAS_AF,PEX6
716982,6:42934562:G>A,NM_000287.3:c.1919C>T,NP_000278.3:p.Thr640Ile,9/17,\N,Unknown significance,\N,missense_variant,22.5,0.0000149853,EXAC_NFE_AF,PEX6
716983,6:42934579:A>G,NM_000287.3:c.1902T>C,NP_000278.3:p.Asp634=,9/17,\N,Unknown significance,\N,synonymous_variant,6.794,0.0000299742,EXAC_NFE_AF,PEX6
716984,6:42934582:C>A,NM_000287.3:c.1899G>T,NP_000278.3:p.Gly633=,9/17,\N,Unknown significance,\N,synonymous_variant,19.64,0.0000962094,EXAC_AFR_AF,PEX6
716985,6:42934587:C>T,NM_000287.3:c.1894G>A,NP_000278.3:p.Val632Ile,9/17,\N,Likely benign,\N,missense_variant,21.6,0.000014988,EXAC_NFE_AF,PEX6
716986,6:42934588:C>T,NM_000287.3:c.1893G>A,NP_000278.3:p.Val631=,9/17,\N,Unknown significance,\N,synonymous_variant,16.04,0.000014988,EXAC_NFE_AF,PEX6
716987,6:42934595:C>T,NM_000287.3:c.1886G>A,NP_000278.3:p.Gly629Asp,9/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.0000149876,EXAC_NFE_AF,PEX6
716988,6:42934596:C>G,NM_000287.3:c.1885G>C,NP_000278.3:p.Gly629Arg,9/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.0000962094,EXAC_AFR_AF,PEX6
716989,6:42934596:C>T,NM_000287.3:c.1885G>A,NP_000278.3:p.Gly629Ser,9/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.000060562,EXAC_SAS_AF,PEX6
716990,6:42934601:G>A,NM_000287.3:c.1885-5C>T,\N,\N,8/16,Unknown significance,\N,splice_region_variant&intron_variant,13.67,0.0000149889,EXAC_NFE_AF,PEX6
716991,6:42934602:G>A,NM_000287.3:c.1885-6C>T,\N,\N,8/16,Unknown significance,\N,splice_region_variant&intron_variant,13.07,0.000116279,EVS_EA_AF,PEX6
716992,6:42934604:A>C,NM_000287.3:c.1885-8T>G,\N,\N,8/16,Unknown significance,\N,splice_region_variant&intron_variant,4.421,0.000192419,EXAC_AFR_AF,PEX6
716993,6:42934610:G>A,NM_000287.3:c.1885-14C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,7.559,0.0000605694,EXAC_SAS_AF,PEX6
716994,6:42934618:C>T,NM_000287.3:c.1885-22G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,5.784,\N,\N,PEX6
716995,6:42934620:C>T,NM_000287.3:c.1885-24G>A,\N,\N,8/16,Benign,\N,intron_variant,2.583,0.7625,1KG_AFR_AF,PEX6
716996,6:42934621:A>G,NM_000287.3:c.1885-25T>C,\N,\N,8/16,Unknown significance,\N,intron_variant,4.764,0.000060584,EXAC_SAS_AF,PEX6
716997,6:42934623:G>A,NM_000287.3:c.1885-27C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,7.232,0.0008,1KG_AFR_AF,PEX6
716998,6:42934631:C>A,NM_000287.3:c.1885-35G>T,\N,\N,8/16,Unknown significance,\N,intron_variant,8.364,0.000226963,EVS_AA_AF,PEX6
716999,6:42934632:A>C,NM_000287.3:c.1885-36T>G,\N,\N,8/16,Unknown significance,\N,intron_variant,6.481,\N,\N,PEX6
717000,6:42934639:G>A,NM_000287.3:c.1885-43C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,6.836,0.000226963,EVS_AA_AF,PEX6
717001,6:42934658:G>A,NM_000287.3:c.1885-62C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,0.497,0.000314268,EVS_EA_AF,PEX6
717002,6:42934681:C>T,NM_000287.3:c.1885-85G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,2.598,0.0014,1KG_AMR_AF,PEX6
717003,6:42934700:TTG>T,NM_000287.3:c.1885-106_1885-105del,\N,\N,8/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717004,6:42934704:TG>T,NM_000287.3:c.1885-109del,\N,\N,8/16,Unknown significance,\N,intron_variant,2.569,\N,\N,PEX6
717005,6:42934705:G>T,NM_000287.3:c.1885-109C>A,\N,\N,8/16,Unknown significance,\N,intron_variant,0.662,\N,\N,PEX6
717006,6:42934705:GTT>G,NM_000287.3:c.1885-111_1885-110del,\N,\N,8/16,Unknown significance,\N,intron_variant,4.708,\N,\N,PEX6
717007,6:42934708:T>G,NM_000287.3:c.1885-112A>C,\N,\N,8/16,Benign,\N,intron_variant,1.455,0.0151,1KG_AFR_AF,PEX6
717008,6:42934711:T>G,NM_000287.3:c.1885-115A>C,\N,\N,8/16,Unknown significance,\N,intron_variant,0.632,0.001,1KG_EUR_AF,PEX6
717009,6:42934771:C>T,NM_000287.3:c.1885-175G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,4.011,\N,\N,PEX6
717010,6:42934773:C>T,NM_000287.3:c.1885-177G>A,\N,\N,8/16,Benign,\N,intron_variant,0.329,0.005,1KG_EUR_AF,PEX6
717011,6:42934774:G>A,NM_000287.3:c.1885-178C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,1.892,0.001,1KG_EAS_AF,PEX6
717012,6:42934788:G>A,NM_000287.3:c.1885-192C>T,\N,\N,8/16,Benign,\N,intron_variant,1.957,0.034,1KG_AFR_AF,PEX6
717013,6:42934796:C>T,NM_000287.3:c.1885-200G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,2.732,0.001,1KG_EAS_AF,PEX6
717014,6:42934800:C>T,NM_000287.3:c.1885-204G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,0.359,0.001,1KG_EUR_AF,PEX6
717015,6:42934801:G>A,NM_000287.3:c.1885-205C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,2.804,0.003,1KG_AFR_AF,PEX6
717016,6:42934818:T>C,NM_000287.3:c.1885-222A>G,\N,\N,8/16,Benign,\N,intron_variant,1.127,0.7958,1KG_AFR_AF,PEX6
717017,6:42934824:C>T,NM_000287.3:c.1885-228G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,3.741,\N,\N,PEX6
717018,6:42934826:G>T,NM_000287.3:c.1885-230C>A,\N,\N,8/16,Unknown significance,\N,intron_variant,1.971,\N,\N,PEX6
717019,6:42934866:C>T,NM_000287.3:c.1884+240G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,4.288,\N,\N,PEX6
717020,6:42934878:T>G,NM_000287.3:c.1884+228A>C,\N,\N,8/16,Unknown significance,\N,intron_variant,2.457,\N,\N,PEX6
717021,6:42934906:C>A,NM_000287.3:c.1884+200G>T,\N,\N,8/16,Unknown significance,\N,intron_variant,7.229,0.001,1KG_EAS_AF,PEX6
717022,6:42934958:C>T,NM_000287.3:c.1884+148G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,6.5,\N,\N,PEX6
717023,6:42934963:T>C,NM_000287.3:c.1884+143A>G,\N,\N,8/16,Unknown significance,\N,intron_variant,3.252,0.0008,1KG_AFR_AF,PEX6
717024,6:42934973:C>T,NM_000287.3:c.1884+133G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,5.59,0.002,1KG_EUR_AF,PEX6
717025,6:42934977:G>C,NM_000287.3:c.1884+129C>G,\N,\N,8/16,Unknown significance,\N,intron_variant,1.159,\N,\N,PEX6
717026,6:42934986:CG>C,NM_000287.3:c.1884+119del,\N,\N,8/16,Unknown significance,\N,intron_variant,0.307,0.0029,1KG_AMR_AF,PEX6
717027,6:42934987:G>A,NM_000287.3:c.1884+119C>T,\N,\N,8/16,Benign,\N,intron_variant,0.23,0.0089,1KG_EAS_AF,PEX6
717028,6:42934996:G>A,NM_000287.3:c.1884+110C>T,\N,\N,8/16,Benign,\N,intron_variant,4.21,0.0968,1KG_AFR_AF,PEX6
717029,6:42934998:C>T,NM_000287.3:c.1884+108G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,4.33,0.002,1KG_EAS_AF,PEX6
717030,6:42934999:G>A,NM_000287.3:c.1884+107C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,3.13,0.001,1KG_EUR_AF,PEX6
717031,6:42935002:C>T,NM_000287.3:c.1884+104G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,4.505,0.0008,1KG_AFR_AF,PEX6
717032,6:42935003:G>A,NM_000287.3:c.1884+103C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,0.323,\N,\N,PEX6
717033,6:42935055:C>T,NM_000287.3:c.1884+51G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,8.5,\N,\N,PEX6
717034,6:42935094:C>T,NM_000287.3:c.1884+12G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,10.96,0.000131961,EXAC_AMR_AF,PEX6
717035,6:42935103:C>T,NM_000287.3:c.1884+3G>A,\N,\N,8/16,Unknown significance,\N,splice_region_variant&intron_variant,15.75,0.00113482,EVS_AA_AF,PEX6
717036,6:42935104:A>G,NM_000287.3:c.1884+2T>C,\N,\N,8/16,Unknown significance,\N,splice_donor_variant,24.5,0.00012133,EXAC_AMR_AF,PEX6
717037,6:42935106:T>C,NM_000287.3:c.1884A>G,NP_000278.3:p.Ala628=,8/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.5,\N,\N,PEX6
717038,6:42935113:C>A,NM_000287.3:c.1877G>T,NP_000278.3:p.Arg626Leu,8/17,\N,Likely benign,\N,missense_variant,24.5,\N,\N,PEX6
717039,6:42935113:C>T,NM_000287.3:c.1877G>A,NP_000278.3:p.Arg626Gln,8/17,\N,Likely benign,\N,missense_variant,22.1,0.00013412,EXAC_EAS_AF,PEX6
717040,6:42935114:G>A,NM_000287.3:c.1876C>T,NP_000278.3:p.Arg626Trp,8/17,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,PEX6
717041,6:42935117:G>A,NM_000287.3:c.1873C>T,NP_000278.3:p.Arg625Trp,8/17,\N,Unknown significance,\N,missense_variant,34,0.000232558,EVS_EA_AF,PEX6
717042,6:42935120:C>A,NM_000287.3:c.1870G>T,NP_000278.3:p.Ala624Ser,8/17,\N,Unknown significance,\N,missense_variant,23.1,0.000216107,EXAC_SAS_AF,PEX6
717043,6:42935133:G>A,NM_000287.3:c.1857C>T,NP_000278.3:p.Asn619=,8/17,\N,Unknown significance,\N,synonymous_variant,10.81,0.000453926,EVS_AA_AF,PEX6
717044,6:42935144:G>T,NM_000287.3:c.1846C>A,NP_000278.3:p.Gln616Lys,8/17,\N,Unknown significance,\N,missense_variant,12.41,0.000141084,EXAC_SAS_AF,PEX6
717045,6:42935145:G>A,NM_000287.3:c.1845C>T,NP_000278.3:p.Gly615=,8/17,\N,Unknown significance,\N,synonymous_variant,11.96,0.0000169085,EXAC_NFE_AF,PEX6
717046,6:42935148:CA>C,NM_000287.3:c.1841del,NP_000278.3:p.Leu614ArgfsTer5,8/17,\N,Pathogenic,Heimler syndrome 2; HEIMLER SYNDROME 2,frameshift_variant,\N,\N,\N,PEX6
717047,6:42935151:G>A,NM_000287.3:c.1839C>T,NP_000278.3:p.Pro613=,8/17,\N,Unknown significance,\N,synonymous_variant,12.11,0.0000169451,EXAC_NFE_AF,PEX6
717048,6:42935153:G>C,NM_000287.3:c.1837C>G,NP_000278.3:p.Pro613Ala,8/17,\N,Unknown significance,\N,missense_variant,15.44,0.000102438,EXAC_AMR_AF,PEX6
717049,6:42935156:G>A,NM_000287.3:c.1834C>T,NP_000278.3:p.Leu612Phe,8/17,\N,Likely benign,\N,missense_variant,15.29,0.000126743,EXAC_EAS_AF,PEX6
717050,6:42935169:G>A,NM_000287.3:c.1821C>T,NP_000278.3:p.Ala607=,8/17,\N,Unknown significance,\N,synonymous_variant,13.1,0.000171468,EXAC_NFE_AF,PEX6
717051,6:42935173:C>T,NM_000287.3:c.1817G>A,NP_000278.3:p.Arg606Gln,8/17,\N,Likely benign,\N,missense_variant,14.79,0.0013624,EXAC_OTH_AF,PEX6
717052,6:42935174:G>A,NM_000287.3:c.1816C>T,NP_000278.3:p.Arg606Trp,8/17,\N,Unknown significance,\N,missense_variant,27.3,0.000434783,EXAC_FIN_AF,PEX6
717053,6:42935174:G>T,NM_000287.3:c.1816C>A,NP_000278.3:p.Arg606=,8/17,\N,Unknown significance,\N,synonymous_variant,13.48,0.000129601,EXAC_EAS_AF,PEX6
717054,6:42935175:C>T,NM_000287.3:c.1815G>A,NP_000278.3:p.Leu605=,8/17,\N,Unknown significance,\N,synonymous_variant,15.26,\N,\N,PEX6
717055,6:42935176:A>C,NM_000287.3:c.1814T>G,NP_000278.3:p.Leu605Arg,8/17,\N,Pathogenic,Zellweger syndrome,missense_variant,29.3,\N,\N,PEX6
717056,6:42935180:T>C,NM_000287.3:c.1810A>G,NP_000278.3:p.Ile604Val,8/17,\N,Likely benign,\N,missense_variant,6.202,0.000116279,EVS_EA_AF,PEX6
717057,6:42935183:T>C,NM_000287.3:c.1807A>G,NP_000278.3:p.Ser603Gly,8/17,\N,Likely benign,\N,missense_variant,11.44,0.0008,1KG_AFR_AF,PEX6
717058,6:42935184:G>A,NM_000287.3:c.1806C>T,NP_000278.3:p.Leu602=,8/17,\N,Unknown significance,\N,synonymous_variant,10.22,0.0000178037,EXAC_NFE_AF,PEX6
717059,6:42935188:C>T,NM_000287.3:c.1802G>A,NP_000278.3:p.Arg601Gln,8/17,\N,Pathogenic,\N,missense_variant,35,0.00710227,EXAC_OTH_AF,PEX6
717060,6:42935189:G>A,NM_000287.3:c.1801C>T,NP_000278.3:p.Arg601Trp,8/17,\N,Pathogenic,Zellweger syndrome,missense_variant,32,\N,\N,PEX6
717061,6:42935193:C>T,NM_000287.3:c.1797G>A,NP_000278.3:p.Gly599=,8/17,\N,Unknown significance,\N,synonymous_variant,14.56,0.000232666,EXAC_FIN_AF,PEX6
717062,6:42935195:CCT>C,NM_000287.3:c.1793_1794del,NP_000278.3:p.Glu598GlyfsTer63,8/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,35,\N,\N,PEX6
717063,6:42935211:C>T,NM_000287.3:c.1779G>A,NP_000278.3:p.Val593=,8/17,\N,Unknown significance,\N,synonymous_variant,10.68,0.0000767695,EXAC_SAS_AF,PEX6
717064,6:42935213:C>A,NM_000287.3:c.1777G>T,NP_000278.3:p.Val593Leu,8/17,\N,Likely benign,\N,missense_variant,13.82,\N,\N,PEX6
717065,6:42935213:C>T,NM_000287.3:c.1777G>A,NP_000278.3:p.Val593Met,8/17,\N,Likely benign,\N,missense_variant,11.37,0.0000193394,EXAC_NFE_AF,PEX6
717066,6:42935216:C>G,NM_000287.3:c.1774G>C,NP_000278.3:p.Glu592Gln,8/17,\N,Likely benign,\N,missense_variant,18.46,0.00108696,EXAC_SAS_AF,PEX6
717067,6:42935216:C>T,NM_000287.3:c.1774G>A,NP_000278.3:p.Glu592Lys,8/17,\N,Likely benign,\N,missense_variant,22.9,0.0031348,EXAC_OTH_AF,PEX6
717068,6:42935217:G>A,NM_000287.3:c.1773C>T,NP_000278.3:p.Leu591=,8/17,\N,Unknown significance,\N,synonymous_variant,7.859,0.0015625,EXAC_OTH_AF,PEX6
717069,6:42935217:G>T,NM_000287.3:c.1773C>A,NP_000278.3:p.Leu591=,8/17,\N,Unknown significance,\N,synonymous_variant,5.219,\N,\N,PEX6
717070,6:42935224:T>C,NM_000287.3:c.1766A>G,NP_000278.3:p.His589Arg,8/17,\N,Unknown significance,\N,missense_variant,18.97,0.0000200216,EXAC_NFE_AF,PEX6
717071,6:42935233:G>A,NM_000287.3:c.1757C>T,NP_000278.3:p.Ala586Val,8/17,\N,Unknown significance,\N,missense_variant,24.9,0.00136178,EVS_AA_AF,PEX6
717072,6:42935243:C>T,NM_000287.3:c.1747G>A,NP_000278.3:p.Val583Met,8/17,\N,Unknown significance,\N,missense_variant,22.7,0.000291715,EXAC_AMR_AF,PEX6
717073,6:42935244:A>G,NM_000287.3:c.1746T>C,NP_000278.3:p.Asp582=,8/17,\N,Unknown significance,\N,synonymous_variant,1.872,0.000145858,EXAC_AMR_AF,PEX6
717074,6:42935253:C>T,NM_000287.3:c.1737G>A,NP_000278.3:p.Leu579=,8/17,\N,Unknown significance,\N,synonymous_variant,13.92,0.0000667973,EXAC_NFE_AF,PEX6
717075,6:42935254:AG>A,NM_000287.3:c.1735del,NP_000278.3:p.Leu579CysfsTer40,8/17,\N,Unknown significance,\N,frameshift_variant,26.4,0.0000828912,EXAC_SAS_AF,PEX6
717076,6:42935266:C>G,NM_000287.3:c.1724G>C,NP_000278.3:p.Arg575Pro,8/17,\N,Unknown significance,\N,missense_variant,20.4,0.0000243819,EXAC_NFE_AF,PEX6
717077,6:42935267:G>A,NM_000287.3:c.1723C>T,NP_000278.3:p.Arg575Trp,8/17,\N,Unknown significance,\N,missense_variant,26.2,0.00053918,EXAC_AMR_AF,PEX6
717078,6:42935267:G>T,NM_000287.3:c.1723C>A,NP_000278.3:p.Arg575=,8/17,\N,Unknown significance,\N,synonymous_variant,8.078,0.000153799,EXAC_AFR_AF,PEX6
717079,6:42935271:T>A,NM_000287.3:c.1719A>T,NP_000278.3:p.Thr573=,8/17,\N,Unknown significance,\N,synonymous_variant,7.621,0.000024914,EXAC_NFE_AF,PEX6
717080,6:42935272:G>A,NM_000287.3:c.1718C>T,NP_000278.3:p.Thr573Ile,8/17,\N,Likely pathogenic,Tetralogy of Fallot,missense_variant,23.9,0.0039137,EXAC_NFE_AF,PEX6
717081,6:42935275:G>A,NM_000287.3:c.1715C>T,NP_000278.3:p.Thr572Ile,8/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,23.5,\N,\N,PEX6
717082,6:42935279:C>T,NM_000287.3:c.1711G>A,NP_000278.3:p.Ala571Thr,8/17,\N,Pathogenic,Zellweger syndrome,missense_variant,31,\N,\N,PEX6
717083,6:42935284:A>G,NM_000287.3:c.1706T>C,NP_000278.3:p.Val569Ala,8/17,\N,Unknown significance,\N,missense_variant,21.8,0.000116306,EVS_EA_AF,PEX6
717084,6:42935285:C>A,NM_000287.3:c.1705G>T,NP_000278.3:p.Val569Phe,8/17,\N,Unknown significance,\N,missense_variant,25.5,0.000181028,EXAC_SAS_AF,PEX6
717085,6:42935291:G>A,NM_000287.3:c.1699C>T,NP_000278.3:p.Leu567Phe,8/17,\N,Unknown significance,\N,missense_variant,22.7,0.0000285747,EXAC_NFE_AF,PEX6
717086,6:42935291:G>T,NM_000287.3:c.1699C>A,NP_000278.3:p.Leu567Ile,8/17,\N,Likely benign,\N,missense_variant,17.79,0.000416493,EXAC_EAS_AF,PEX6
717087,6:42935292:G>A,NM_000287.3:c.1698C>T,NP_000278.3:p.Pro566=,8/17,\N,Unknown significance,\N,synonymous_variant,9.981,0.0000286418,EXAC_NFE_AF,PEX6
717088,6:42935302:C>A,NM_000287.3:c.1689-1G>T,\N,\N,7/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,23,\N,\N,PEX6
717089,6:42935303:TGCAGACAGAGGA>T,NM_000287.3:c.1689-14_1689-3del,\N,\N,7/16,Unknown significance,\N,splice_region_variant&intron_variant,12.56,\N,\N,PEX6
717090,6:42935304:G>A,NM_000287.3:c.1689-3C>T,\N,\N,7/16,Unknown significance,\N,splice_region_variant&intron_variant,8.49,\N,\N,PEX6
717091,6:42935308:A>T,NM_000287.3:c.1689-7T>A,\N,\N,7/16,Unknown significance,\N,splice_region_variant&intron_variant,0.977,\N,\N,PEX6
717092,6:42935317:TGGGCAC>T,NM_000287.3:c.1689-22_1689-17del,\N,\N,7/16,Unknown significance,\N,intron_variant,10.26,\N,\N,PEX6
717093,6:42935319:G>A,NM_000287.3:c.1689-18C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,8.409,0.000277316,EXAC_EAS_AF,PEX6
717094,6:42935320:G>A,NM_000287.3:c.1689-19C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,7.452,0.00011636,EVS_EA_AF,PEX6
717095,6:42935323:C>T,NM_000287.3:c.1689-22G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,6.12,0.0000381942,EXAC_NFE_AF,PEX6
717096,6:42935326:AG>A,NM_000287.3:c.1689-26del,\N,\N,7/16,Unknown significance,\N,intron_variant,3.674,0.000301205,EXAC_EAS_AF,PEX6
717097,6:42935329:G>T,NM_000287.3:c.1689-28C>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.45,0.000324465,EXAC_EAS_AF,PEX6
717098,6:42935340:G>A,NM_000287.3:c.1689-39C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,5.027,0.000234962,EXAC_AFR_AF,PEX6
717099,6:42935355:G>A,NM_000287.3:c.1689-54C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,5.369,0.001,1KG_EUR_AF,PEX6
717100,6:42935359:T>C,NM_000287.3:c.1689-58A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,9.159,\N,\N,PEX6
717101,6:42935361:C>T,NM_000287.3:c.1689-60G>A,\N,\N,7/16,Benign,\N,intron_variant,11.11,0.0278,1KG_EAS_AF,PEX6
717102,6:42935375:C>T,NM_000287.3:c.1689-74G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.531,0.001,1KG_EAS_AF|1KG_EUR_AF,PEX6
717103,6:42935382:G>C,NM_000287.3:c.1689-81C>G,\N,\N,7/16,Unknown significance,\N,intron_variant,1.64,0.002,1KG_EAS_AF,PEX6
717104,6:42935403:G>A,NM_000287.3:c.1689-102C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,2.685,0.0015,1KG_AFR_AF,PEX6
717105,6:42935437:C>G,NM_000287.3:c.1689-136G>C,\N,\N,7/16,Benign,\N,intron_variant,6.794,0.0189,1KG_AFR_AF,PEX6
717106,6:42935460:G>A,NM_000287.3:c.1689-159C>T,\N,\N,7/16,Benign,\N,intron_variant,1.616,0.0219,1KG_AFR_AF,PEX6
717107,6:42935462:G>A,NM_000287.3:c.1689-161C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,1.315,0.0014,1KG_AMR_AF,PEX6
717108,6:42935463:T>C,NM_000287.3:c.1689-162A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,0.816,0.001,1KG_EUR_AF,PEX6
717109,6:42935476:A>T,NM_000287.3:c.1689-175T>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.582,0.002,1KG_EUR_AF,PEX6
717110,6:42935481:G>A,NM_000287.3:c.1689-180C>T,\N,\N,7/16,Benign,\N,intron_variant,6.543,0.0129,1KG_AFR_AF,PEX6
717111,6:42935486:G>A,NM_000287.3:c.1689-185C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,8.203,\N,\N,PEX6
717112,6:42935503:C>T,NM_000287.3:c.1689-202G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.783,\N,\N,PEX6
717113,6:42935527:A>G,NM_000287.3:c.1689-226T>C,\N,\N,7/16,Unknown significance,\N,intron_variant,2.601,0.001,1KG_EAS_AF,PEX6
717114,6:42935576:T>C,NM_000287.3:c.1689-275A>G,\N,\N,7/16,Benign,\N,intron_variant,5.605,0.008,1KG_EUR_AF,PEX6
717115,6:42935602:G>A,NM_000287.3:c.1689-301C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.517,\N,\N,PEX6
717116,6:42935626:G>T,NM_000287.3:c.1689-325C>A,\N,\N,7/16,Unknown significance,\N,intron_variant,2.22,0.0008,1KG_AFR_AF,PEX6
717117,6:42935677:C>G,NM_000287.3:c.1688+351G>C,\N,\N,7/16,Benign,\N,intron_variant,0.039,0.0091,1KG_AFR_AF,PEX6
717118,6:42935678:G>A,NM_000287.3:c.1688+350C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.054,0.0014,1KG_AMR_AF,PEX6
717119,6:42935685:C>CT,NM_000287.3:c.1688+342dup,\N,\N,7/16,Unknown significance,\N,intron_variant,1.682,\N,\N,PEX6
717120,6:42935723:C>T,NM_000287.3:c.1688+305G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,3.393,\N,\N,PEX6
717121,6:42935750:T>C,NM_000287.3:c.1688+278A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,1.048,0.0014,1KG_AMR_AF,PEX6
717122,6:42935770:C>T,NM_000287.3:c.1688+258G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,3.937,0.001,1KG_SAS_AF,PEX6
717123,6:42935771:G>A,NM_000287.3:c.1688+257C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.55,0.0008,1KG_AFR_AF,PEX6
717124,6:42935812:G>A,NM_000287.3:c.1688+216C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,2.452,\N,\N,PEX6
717125,6:42935814:A>G,NM_000287.3:c.1688+214T>C,\N,\N,7/16,Benign,\N,intron_variant,2.444,0.005,1KG_EAS_AF,PEX6
717126,6:42935860:T>A,NM_000287.3:c.1688+168A>T,\N,\N,7/16,Benign,\N,intron_variant,3.172,0.0061,1KG_AFR_AF,PEX6
717127,6:42935921:CA>C,NM_000287.3:c.1688+106del,\N,\N,7/16,Benign,\N,intron_variant,4.803,0.0923,1KG_AFR_AF,PEX6
717128,6:42935940:G>A,NM_000287.3:c.1688+88C>T,\N,\N,7/16,Benign,\N,intron_variant,3.994,0.0278,1KG_EAS_AF,PEX6
717129,6:42935963:T>C,NM_000287.3:c.1688+65A>G,\N,\N,7/16,Benign,\N,intron_variant,0.43,0.0098,1KG_AFR_AF,PEX6
717130,6:42935977:C>T,NM_000287.3:c.1688+51G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.281,0.0000153544,EXAC_NFE_AF,PEX6
717131,6:42935978:G>A,NM_000287.3:c.1688+50C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.123,0.0014,1KG_AMR_AF,PEX6
717132,6:42935979:C>T,NM_000287.3:c.1688+49G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,2.411,0.0014,1KG_AMR_AF,PEX6
717133,6:42935980:G>A,NM_000287.3:c.1688+48C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.697,0.000182083,EXAC_SAS_AF,PEX6
717134,6:42935983:C>T,NM_000287.3:c.1688+45G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.016,0.0000153083,EXAC_NFE_AF,PEX6
717135,6:42935985:G>A,NM_000287.3:c.1688+43C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,3.365,0.0000765556,EXAC_NFE_AF,PEX6
717136,6:42935986:C>G,NM_000287.3:c.1688+42G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,2.301,0.000105042,EXAC_AFR_AF,PEX6
717137,6:42935987:C>T,NM_000287.3:c.1688+41G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.749,0.000104976,EXAC_AFR_AF,PEX6
717138,6:42935988:G>A,NM_000287.3:c.1688+40C>T,\N,\N,7/16,Benign,\N,intron_variant,0.492,0.0137899,EXAC_FIN_AF,PEX6
717139,6:42935989:G>GC,NM_000287.3:c.1688+38dup,\N,\N,7/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717140,6:42935989:GC>G,NM_000287.3:c.1688+38del,\N,\N,7/16,Unknown significance,\N,intron_variant,2.401,\N,\N,PEX6
717141,6:42935991:C>A,NM_000287.3:c.1688+37G>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.651,0.000909504,EVS_AA_AF,PEX6
717142,6:42935995:C>T,NM_000287.3:c.1688+33G>A,\N,\N,7/16,Benign,\N,intron_variant,0.15,0.037037,EXAC_AFR_AF,PEX6
717143,6:42935996:C>A,NM_000287.3:c.1688+32G>T,\N,\N,7/16,Unknown significance,\N,intron_variant,1.305,0.000103972,EXAC_AFR_AF,PEX6
717144,6:42935996:C>G,NM_000287.3:c.1688+32G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,0.49,0.0000868357,EXAC_AMR_AF,PEX6
717145,6:42935998:G>A,NM_000287.3:c.1688+30C>T,\N,\N,7/16,Benign,\N,intron_variant,0.335,0.7753,1KG_AFR_AF,PEX6
717146,6:42936025:T>A,NM_000287.3:c.1688+3A>T,\N,\N,7/16,Unknown significance,\N,splice_region_variant&intron_variant,10.44,\N,\N,PEX6
717147,6:42936025:T>C,NM_000287.3:c.1688+3A>G,\N,\N,7/16,Unknown significance,\N,splice_region_variant&intron_variant,7.356,\N,\N,PEX6
717148,6:42936027:C>G,NM_000287.3:c.1688+1G>C,\N,\N,7/16,Unknown significance,\N,splice_donor_variant,24,\N,\N,PEX6
717149,6:42936027:C>T,NM_000287.3:c.1688+1G>A,\N,\N,7/16,Pathogenic,Zellweger syndrome C,splice_donor_variant,24.3,\N,\N,PEX6
717150,6:42936028:C>T,NM_000287.3:c.1688G>A,NP_000278.3:p.Ser563Asn,7/17,\N,Likely benign,\N,missense_variant&splice_region_variant,15.71,0.0000605767,EXAC_SAS_AF,PEX6
717151,6:42936036:G>A,NM_000287.3:c.1680C>T,NP_000278.3:p.Pro560=,7/17,\N,Unknown significance,\N,synonymous_variant,1.663,0.00417343,EXAC_EAS_AF,PEX6
717152,6:42936039:G>T,NM_000287.3:c.1677C>A,NP_000278.3:p.Asp559Glu,7/17,\N,Unknown significance,\N,missense_variant,11.22,0.00453926,EVS_AA_AF,PEX6
717153,6:42936046:T>C,NM_000287.3:c.1670A>G,NP_000278.3:p.Asn557Ser,7/17,\N,Likely benign,\N,missense_variant,0.006,0.000878563,EXAC_AFR_AF,PEX6
717154,6:42936051:G>A,NM_000287.3:c.1665C>T,NP_000278.3:p.Leu555=,7/17,\N,Unknown significance,\N,synonymous_variant,9.594,0.0000150798,EXAC_NFE_AF,PEX6
717155,6:42936052:AG>A,NM_000287.3:c.1663del,NP_000278.3:p.Leu555SerfsTer64,7/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
717156,6:42936061:C>T,NM_000287.3:c.1655G>A,NP_000278.3:p.Arg552His,7/17,\N,Likely benign,\N,missense_variant,23,0.0000865351,EXAC_AMR_AF,PEX6
717157,6:42936062:G>A,NM_000287.3:c.1654C>T,NP_000278.3:p.Arg552Cys,7/17,\N,Likely benign,\N,missense_variant,21.8,0.000115902,EXAC_EAS_AF,PEX6
717158,6:42936068:C>T,NM_000287.3:c.1648G>A,NP_000278.3:p.Val550Met,7/17,\N,Likely benign,\N,missense_variant,12.39,0.000226963,EVS_AA_AF,PEX6
717159,6:42936069:A>G,NM_000287.3:c.1647T>C,NP_000278.3:p.Ala549=,7/17,\N,Unknown significance,\N,synonymous_variant,1.391,0.0000301659,EXAC_NFE_AF,PEX6
717160,6:42936070:G>A,NM_000287.3:c.1646C>T,NP_000278.3:p.Ala549Val,7/17,\N,Benign*,\N,missense_variant,24.2,0.034,1KG_AFR_AF,PEX6
717161,6:42936074:T>C,NM_000287.3:c.1642A>G,NP_000278.3:p.Met548Val,7/17,\N,Likely benign,\N,missense_variant,5.492,0.000116279,EVS_EA_AF,PEX6
717162,6:42936076:A>G,NM_000287.3:c.1640T>C,NP_000278.3:p.Val547Ala,7/17,\N,Unknown significance,\N,missense_variant,24.4,0.0000605767,EXAC_SAS_AF,PEX6
717163,6:42936077:C>A,NM_000287.3:c.1639G>T,NP_000278.3:p.Val547Leu,7/17,\N,Unknown significance,\N,missense_variant,25.7,0.0000969932,EXAC_AFR_AF,PEX6
717164,6:42936079:C>T,NM_000287.3:c.1637G>A,NP_000278.3:p.Arg546His,7/17,\N,Unknown significance,\N,missense_variant,28.8,0.000196155,EXAC_NFE_AF,PEX6
717165,6:42936080:G>A,NM_000287.3:c.1636C>T,NP_000278.3:p.Arg546Cys,7/17,\N,Unknown significance,\N,missense_variant,35,0.000432751,EXAC_AMR_AF,PEX6
717166,6:42936083:C>T,NM_000287.3:c.1633G>A,NP_000278.3:p.Ala545Thr,7/17,\N,Likely benign,\N,missense_variant,23,\N,\N,PEX6
717167,6:42936089:C>T,NM_000287.3:c.1627G>A,NP_000278.3:p.Glu543Lys,7/17,\N,Unknown significance,\N,missense_variant,27.9,0.000226963,EVS_AA_AF,PEX6
717168,6:42936103:C>T,NM_000287.3:c.1613G>A,NP_000278.3:p.Arg538His,7/17,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_EAS_AF,PEX6
717169,6:42936104:G>A,NM_000287.3:c.1612C>T,NP_000278.3:p.Arg538Cys,7/17,\N,Unknown significance,\N,missense_variant,35,0.000226963,EVS_AA_AF,PEX6
717170,6:42936109:C>T,NM_000287.3:c.1607G>A,NP_000278.3:p.Arg536Gln,7/17,\N,Unknown significance,\N,missense_variant,23.3,0.00340909,EXAC_OTH_AF,PEX6
717171,6:42936110:G>A,NM_000287.3:c.1606C>T,NP_000278.3:p.Arg536Trp,7/17,\N,Unknown significance,\N,missense_variant,23.5,0.0008,1KG_AFR_AF,PEX6
717172,6:42936115:A>G,NM_000287.3:c.1601T>C,NP_000278.3:p.Leu534Pro,7/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,29.1,\N,\N,PEX6
717173,6:42936129:T>G,NM_000287.3:c.1587A>C,NP_000278.3:p.Thr529=,7/17,\N,Unknown significance,\N,synonymous_variant,3.867,0.000226963,EVS_AA_AF,PEX6
717174,6:42936130:G>A,NM_000287.3:c.1586C>T,NP_000278.3:p.Thr529Ile,7/17,\N,Unknown significance,\N,missense_variant,24.9,0.0000153139,EXAC_NFE_AF,PEX6
717175,6:42936143:C>T,NM_000287.3:c.1573G>A,NP_000278.3:p.Val525Ile,7/17,\N,Unknown significance,\N,missense_variant,19.74,0.000015874,EXAC_NFE_AF,PEX6
717176,6:42936144:TGCAGGCCGGCAACGGC>T,NM_000287.3:c.1556_1571del,NP_000278.3:p.Arg519GlnfsTer24,7/17,\N,Unknown significance,\N,frameshift_variant,35,0.0000934405,EXAC_AMR_AF,PEX6
717177,6:42936145:G>A,NM_000287.3:c.1571C>T,NP_000278.3:p.Ala524Val,7/17,\N,Likely benign,\N,missense_variant,6.68,0.0000161436,EXAC_NFE_AF,PEX6
717178,6:42936145:G>GC,NM_000287.3:c.1570dup,NP_000278.3:p.Ala524GlyfsTer16,7/17,\N,Unknown significance,\N,frameshift_variant,31,0.0000161436,EXAC_NFE_AF,PEX6
717179,6:42936149:G>A,NM_000287.3:c.1567C>T,NP_000278.3:p.Pro523Ser,7/17,\N,Unknown significance,\N,missense_variant,29.2,0.0000171468,EXAC_NFE_AF,PEX6
717180,6:42936151:C>G,NM_000287.3:c.1565G>C,NP_000278.3:p.Arg522Pro,7/17,\N,Unknown significance,\N,missense_variant,28.3,0.0000176485,EXAC_NFE_AF,PEX6
717181,6:42936151:C>T,NM_000287.3:c.1565G>A,NP_000278.3:p.Arg522Gln,7/17,\N,Likely benign,\N,missense_variant,23.9,0.000116279,EVS_EA_AF,PEX6
717182,6:42936152:G>A,NM_000287.3:c.1564C>T,NP_000278.3:p.Arg522Trp,7/17,\N,Unknown significance,\N,missense_variant,34,0.0014,1KG_AMR_AF,PEX6
717183,6:42936157:C>A,NM_000287.3:c.1559G>T,NP_000278.3:p.Arg520Leu,7/17,\N,Likely benign,\N,missense_variant,23,0.000227066,EVS_AA_AF,PEX6
717184,6:42936157:C>T,NM_000287.3:c.1559G>A,NP_000278.3:p.Arg520His,7/17,\N,Likely benign,\N,missense_variant,23.4,0.000255167,EXAC_AMR_AF,PEX6
717185,6:42936158:G>A,NM_000287.3:c.1558C>T,NP_000278.3:p.Arg520Cys,7/17,\N,Unknown significance,\N,missense_variant,23.9,0.001,1KG_SAS_AF,PEX6
717186,6:42936160:C>T,NM_000287.3:c.1556G>A,NP_000278.3:p.Arg519His,7/17,\N,Likely benign,\N,missense_variant,23.9,0.000116306,EVS_EA_AF,PEX6
717187,6:42936162:G>A,NM_000287.3:c.1554C>T,NP_000278.3:p.Ala518=,7/17,\N,Unknown significance,\N,synonymous_variant,13.35,0.0015,1KG_AFR_AF,PEX6
717188,6:42936163:G>T,NM_000287.3:c.1553C>A,NP_000278.3:p.Ala518Asp,7/17,\N,Pathogenic,Zellweger syndrome,missense_variant,33,\N,\N,PEX6
717189,6:42936165:C>A,NM_000287.3:c.1551G>T,NP_000278.3:p.Arg517=,7/17,\N,Unknown significance,\N,synonymous_variant,19.64,0.00027571,EXAC_AFR_AF,PEX6
717190,6:42936166:C>T,NM_000287.3:c.1550G>A,NP_000278.3:p.Arg517Gln,7/17,\N,Unknown significance,\N,missense_variant,24.4,0.000454133,EVS_AA_AF,PEX6
717191,6:42936167:G>A,NM_000287.3:c.1549C>T,NP_000278.3:p.Arg517Trp,7/17,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,PEX6
717192,6:42936172:A>G,NM_000287.3:c.1544T>C,NP_000278.3:p.Phe515Ser,7/17,\N,Unknown significance,\N,missense_variant,31,0.000148324,EXAC_AFR_AF,PEX6
717193,6:42936172:A>T,NM_000287.3:c.1544T>A,NP_000278.3:p.Phe515Tyr,7/17,\N,Unknown significance,\N,missense_variant,27.9,0.000191058,EXAC_EAS_AF,PEX6
717194,6:42936174:G>A,NM_000287.3:c.1542C>T,NP_000278.3:p.Ile514=,7/17,\N,Unknown significance,\N,synonymous_variant,14.62,0.000150875,EXAC_AFR_AF,PEX6
717195,6:42936178:G>T,NM_000287.3:c.1538C>A,NP_000278.3:p.Ala513Asp,7/17,\N,Unknown significance,\N,missense_variant,23.8,0.0000256174,EXAC_NFE_AF,PEX6
717196,6:42936184:A>C,NM_000287.3:c.1532T>G,NP_000278.3:p.Leu511Arg,7/17,\N,Pathogenic,Zellweger syndrome,missense_variant,27,\N,\N,PEX6
717197,6:42936185:G>A,NM_000287.3:c.1531C>T,NP_000278.3:p.Leu511=,7/17,\N,Unknown significance,\N,synonymous_variant,8.41,0.001,1KG_EUR_AF,PEX6
717198,6:42936193:TC>T,NM_000287.3:c.1522del,NP_000278.3:p.Glu508ArgfsTer40,7/17,\N,Unknown significance,\N,frameshift_variant,34,0.0000310231,EXAC_NFE_AF,PEX6
717199,6:42936205:C>T,NM_000287.3:c.1511G>A,NP_000278.3:p.Ser504Asn,7/17,\N,Unknown significance,\N,missense_variant,23.5,0.000322789,EXAC_AMR_AF,PEX6
717200,6:42936214:G>A,NM_000287.3:c.1502C>T,NP_000278.3:p.Ala501Val,7/17,\N,Unknown significance,\N,missense_variant,26.2,0.0000978474,EXAC_SAS_AF,PEX6
717201,6:42936217:C>A,NM_000287.3:c.1499G>T,NP_000278.3:p.Cys500Phe,7/17,\N,Unknown significance,\N,missense_variant,25.7,0.0000466374,EXAC_NFE_AF,PEX6
717202,6:42936220:AG>A,NM_000287.3:c.1495del,NP_000278.3:p.Leu499SerfsTer49,7/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,35,\N,\N,PEX6
717203,6:42936221:G>A,NM_000287.3:c.1495C>T,NP_000278.3:p.Leu499Phe,7/17,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,PEX6
717204,6:42936225:G>A,NM_000287.3:c.1491C>T,NP_000278.3:p.Ser497=,7/17,\N,Unknown significance,\N,synonymous_variant,9.804,0.00452489,EXAC_AFR_AF,PEX6
717205,6:42936232:G>C,NM_000287.3:c.1484C>G,NP_000278.3:p.Pro495Arg,7/17,\N,Likely benign,\N,missense_variant,19.49,0.000112486,EXAC_SAS_AF,PEX6
717206,6:42936240:G>C,NM_000287.3:c.1480-4C>G,\N,\N,6/16,Unknown significance,\N,splice_region_variant&intron_variant,2.626,0.00324149,EXAC_EAS_AF,PEX6
717207,6:42936241:G>A,NM_000287.3:c.1480-5C>T,\N,\N,6/16,Benign,\N,splice_region_variant&intron_variant,4.077,0.0137539,EXAC_SAS_AF,PEX6
717208,6:42936250:C>T,NM_000287.3:c.1480-14G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,3.349,\N,\N,PEX6
717209,6:42936264:G>A,NM_000287.3:c.1480-28C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.259,\N,\N,PEX6
717210,6:42936281:G>A,NM_000287.3:c.1480-45C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,6.812,0.000122489,EXAC_NFE_AF,PEX6
717211,6:42936283:C>A,NM_000287.3:c.1480-47G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.691,\N,\N,PEX6
717212,6:42936319:A>T,NM_000287.3:c.1480-83T>A,\N,\N,6/16,Unknown significance,\N,intron_variant,2.245,0.0029,1KG_AMR_AF,PEX6
717213,6:42936353:A>G,NM_000287.3:c.1480-117T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,1.984,0.001,1KG_SAS_AF,PEX6
717214,6:42936359:G>C,NM_000287.3:c.1480-123C>G,\N,\N,6/16,Benign,\N,intron_variant,1.977,0.1248,1KG_AFR_AF,PEX6
717215,6:42936413:C>A,NM_000287.3:c.1480-177G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,11.16,0.0023,1KG_AFR_AF,PEX6
717216,6:42936427:C>A,NM_000287.3:c.1479+185G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.202,\N,\N,PEX6
717217,6:42936436:C>T,NM_000287.3:c.1479+176G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,1.066,0.001,1KG_EUR_AF,PEX6
717218,6:42936444:A>C,NM_000287.3:c.1479+168T>G,\N,\N,6/16,Unknown significance,\N,intron_variant,3.189,0.0029,1KG_AMR_AF,PEX6
717219,6:42936447:G>C,NM_000287.3:c.1479+165C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,2.218,0.0029,1KG_AMR_AF,PEX6
717220,6:42936449:A>C,NM_000287.3:c.1479+163T>G,\N,\N,6/16,Unknown significance,\N,intron_variant,3.383,0.0029,1KG_AMR_AF,PEX6
717221,6:42936469:C>T,NM_000287.3:c.1479+143G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,7.449,\N,\N,PEX6
717222,6:42936477:T>C,NM_000287.3:c.1479+135A>G,\N,\N,6/16,Unknown significance,\N,intron_variant,2.547,\N,\N,PEX6
717223,6:42936493:G>A,NM_000287.3:c.1479+119C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,10.45,\N,\N,PEX6
717224,6:42936497:G>C,NM_000287.3:c.1479+115C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,1.609,\N,\N,PEX6
717225,6:42936502:G>A,NM_000287.3:c.1479+110C>T,\N,\N,6/16,Benign,\N,intron_variant,4.13,0.1362,1KG_AFR_AF,PEX6
717226,6:42936545:AG>A,NM_000287.3:c.1479+66del,\N,\N,6/16,Benign,\N,intron_variant,12.16,0.0325,1KG_AFR_AF,PEX6
717227,6:42936549:G>A,NM_000287.3:c.1479+63C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,11.88,\N,\N,PEX6
717228,6:42936562:T>TGAGCTGGGGAGGGGAAG,NM_000287.3:c.1479+33_1479+49dup,\N,\N,6/16,Unknown significance,\N,intron_variant,1.352,\N,\N,PEX6
717229,6:42936569:G>A,NM_000287.3:c.1479+43C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.713,0.000196657,EXAC_AFR_AF,PEX6
717230,6:42936583:C>A,NM_000287.3:c.1479+29G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,1.612,\N,\N,PEX6
717231,6:42936588:G>A,NM_000287.3:c.1479+24C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,8.389,0.000116632,EXAC_EAS_AF,PEX6
717232,6:42936601:G>A,NM_000287.3:c.1479+11C>T,\N,\N,6/16,Benign,\N,intron_variant,18.64,0.0219,1KG_AFR_AF,PEX6
717233,6:42936605:C>T,NM_000287.3:c.1479+7G>A,\N,\N,6/16,Unknown significance,\N,splice_region_variant&intron_variant,15.23,0.002,1KG_SAS_AF,PEX6
717234,6:42936615:C>CAGTA,NM_000287.3:c.1472_1475dup,NP_000278.3:p.Lys493ThrfsTer13,6/17,\N,Unknown significance,\N,frameshift_variant,35,0.0000976753,EXAC_AFR_AF,PEX6
717235,6:42936622:TG>T,NM_000287.3:c.1468del,NP_000278.3:p.His490ThrfsTer3,6/17,\N,Unknown significance,\N,frameshift_variant,35,0.000060687,EXAC_SAS_AF,PEX6
717236,6:42936625:A>T,NM_000287.3:c.1466T>A,NP_000278.3:p.Leu489His,6/17,\N,Unknown significance,\N,missense_variant,28.5,0.0000150739,EXAC_NFE_AF,PEX6
717237,6:42936633:G>A,NM_000287.3:c.1458C>T,NP_000278.3:p.His486=,6/17,\N,Unknown significance,\N,synonymous_variant,8.042,0.000116496,EXAC_EAS_AF,PEX6
717238,6:42936636:A>G,NM_000287.3:c.1455T>C,NP_000278.3:p.Ser485=,6/17,\N,Unknown significance,\N,synonymous_variant,9.415,0.0000301105,EXAC_NFE_AF,PEX6
717239,6:42936654:T>C,NM_000287.3:c.1437A>G,NP_000278.3:p.Val479=,6/17,\N,Unknown significance,\N,synonymous_variant,10.1,0.0000968242,EXAC_AFR_AF,PEX6
717240,6:42936674:C>T,NM_000287.3:c.1417G>A,NP_000278.3:p.Gly473Ser,6/17,\N,Unknown significance,\N,missense_variant,25.9,0.00017322,EXAC_AMR_AF,PEX6
717241,6:42936675:T>TG,NM_000287.3:c.1415dup,NP_000278.3:p.Gly473ArgfsTer13,6/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,25.4,0.000116414,EXAC_EAS_AF,PEX6
717242,6:42936678:G>A,NM_000287.3:c.1413C>T,NP_000278.3:p.Pro471=,6/17,\N,Unknown significance,\N,synonymous_variant,6.615,0.0000606281,EXAC_SAS_AF,PEX6
717243,6:42936680:G>A,NM_000287.3:c.1411C>T,NP_000278.3:p.Pro471Ser,6/17,\N,Unknown significance,\N,missense_variant,22.5,0.0000606281,EXAC_SAS_AF,PEX6
717244,6:42936683:C>T,NM_000287.3:c.1408G>A,NP_000278.3:p.Gly470Ser,6/17,\N,Unknown significance,\N,missense_variant,24.7,\N,\N,PEX6
717245,6:42936685:C>T,NM_000287.3:c.1406G>A,NP_000278.3:p.Arg469Gln,6/17,\N,Likely benign,\N,missense_variant,10.77,0.0000866701,EXAC_AMR_AF,PEX6
717246,6:42936686:G>A,NM_000287.3:c.1405C>T,NP_000278.3:p.Arg469Trp,6/17,\N,Likely benign,\N,missense_variant,16.84,\N,\N,PEX6
717247,6:42936686:GT>G,NM_000287.3:c.1404del,NP_000278.3:p.Arg469GlyfsTer11,6/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,6.372,\N,\N,PEX6
717248,6:42936689:G>A,NM_000287.3:c.1402C>T,NP_000278.3:p.Leu468=,6/17,\N,Unknown significance,\N,synonymous_variant,10.98,\N,\N,PEX6
717249,6:42936695:C>T,NM_000287.3:c.1396G>A,NP_000278.3:p.Val466Ile,6/17,\N,Unknown significance,\N,missense_variant,17.13,0.0000867604,EXAC_AMR_AF,PEX6
717250,6:42936700:C>A,NM_000287.3:c.1391G>T,NP_000278.3:p.Ser464Ile,6/17,\N,Likely benign,\N,missense_variant,23.8,0.0000606502,EXAC_SAS_AF,PEX6
717251,6:42936703:G>A,NM_000287.3:c.1388C>T,NP_000278.3:p.Thr463Ile,6/17,\N,Likely benign,\N,missense_variant,13.85,0.001,1KG_EUR_AF,PEX6
717252,6:42936704:T>C,NM_000287.3:c.1387A>G,NP_000278.3:p.Thr463Ala,6/17,\N,Likely benign,\N,missense_variant,10.54,0.0014,1KG_AMR_AF,PEX6
717253,6:42936711:C>T,NM_000287.3:c.1380G>A,NP_000278.3:p.Leu460=,6/17,\N,Unknown significance,\N,synonymous_variant,14.9,0.0000606649,EXAC_SAS_AF,PEX6
717254,6:42936721:C>A,NM_000287.3:c.1370G>T,NP_000278.3:p.Gly457Val,6/17,\N,Likely benign,\N,missense_variant&splice_region_variant,23.1,0.0000455166,EXAC_NFE_AF,PEX6
717255,6:42936722:C>A,NM_000287.3:c.1369G>T,NP_000278.3:p.Gly457Cys,6/17,\N,Likely benign,\N,missense_variant&splice_region_variant,23.7,0.000182083,EXAC_SAS_AF,PEX6
717256,6:42936723:C>G,NM_000287.3:c.1368G>C,NP_000278.3:p.Gly456=,6/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.49,0.000117233,EXAC_EAS_AF,PEX6
717257,6:42936738:C>T,NM_000287.3:c.1368-15G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,15.7,0.000030931,EXAC_NFE_AF,PEX6
717258,6:42936745:T>G,NM_000287.3:c.1368-22A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,6.989,0.0000156583,EXAC_NFE_AF,PEX6
717259,6:42936746:C>T,NM_000287.3:c.1368-23G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,2.847,0.000116279,EVS_EA_AF,PEX6
717260,6:42936747:G>A,NM_000287.3:c.1368-24C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,0.394,0.0000156927,EXAC_NFE_AF,PEX6
717261,6:42936760:T>G,NM_000287.3:c.1368-37A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,4.897,0.000184706,EXAC_AMR_AF,PEX6
717262,6:42936761:G>A,NM_000287.3:c.1368-38C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,3.644,0.001,1KG_EAS_AF,PEX6
717263,6:42936786:C>T,NM_000287.3:c.1368-63G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,8.353,\N,\N,PEX6
717264,6:42936837:G>A,NM_000287.3:c.1368-114C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,2.391,0.0008,1KG_AFR_AF,PEX6
717265,6:42936865:C>G,NM_000287.3:c.1368-142G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,0.257,0.004,1KG_EUR_AF,PEX6
717266,6:42936891:C>T,NM_000287.3:c.1368-168G>A,\N,\N,5/16,Benign,\N,intron_variant,2.628,0.005,1KG_EAS_AF,PEX6
717267,6:42936894:C>A,NM_000287.3:c.1368-171G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,6.329,0.0031,1KG_SAS_AF,PEX6
717268,6:42936900:C>T,NM_000287.3:c.1368-177G>A,\N,\N,5/16,Benign,\N,intron_variant,4.297,0.9017,1KG_AFR_AF,PEX6
717269,6:42936913:G>A,NM_000287.3:c.1368-190C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,3.677,0.004,1KG_EUR_AF,PEX6
717270,6:42936934:A>T,NM_000287.3:c.1368-211T>A,\N,\N,5/16,Unknown significance,\N,intron_variant,5.37,\N,\N,PEX6
717271,6:42936983:C>T,NM_000287.3:c.1368-260G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,6.557,\N,\N,PEX6
717272,6:42936990:G>T,NM_000287.3:c.1368-267C>A,\N,\N,5/16,Unknown significance,\N,intron_variant,0.654,\N,\N,PEX6
717273,6:42936998:T>C,NM_000287.3:c.1368-275A>G,\N,\N,5/16,Unknown significance,\N,intron_variant,3.213,\N,\N,PEX6
717274,6:42937011:ATT>A,NM_000287.3:c.1368-290_1368-289del,\N,\N,5/16,Benign,\N,intron_variant,2.759,0.0053,1KG_AFR_AF,PEX6
717275,6:42937050:G>A,NM_000287.3:c.1368-327C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,1.278,\N,\N,PEX6
717276,6:42937060:G>C,NM_000287.3:c.1368-337C>G,\N,\N,5/16,Unknown significance,\N,intron_variant,3.656,\N,\N,PEX6
717277,6:42937078:G>A,NM_000287.3:c.1367+328C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,15.16,0.002,1KG_EAS_AF,PEX6
717278,6:42937126:C>T,NM_000287.3:c.1367+280G>A,\N,\N,5/16,Benign,\N,intron_variant,3.085,0.4622,1KG_EUR_AF,PEX6
717279,6:42937167:C>T,NM_000287.3:c.1367+239G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,9.366,0.0008,1KG_AFR_AF,PEX6
717280,6:42937176:C>A,NM_000287.3:c.1367+230G>T,\N,\N,5/16,Benign,\N,intron_variant,8.367,0.4622,1KG_EUR_AF,PEX6
717281,6:42937233:T>C,NM_000287.3:c.1367+173A>G,\N,\N,5/16,Unknown significance,\N,intron_variant,4.869,0.002,1KG_SAS_AF,PEX6
717282,6:42937241:C>T,NM_000287.3:c.1367+165G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,8.999,0.001,1KG_EUR_AF,PEX6
717283,6:42937242:A>G,NM_000287.3:c.1367+164T>C,\N,\N,5/16,Unknown significance,\N,intron_variant,7.466,0.0014,1KG_AMR_AF,PEX6
717284,6:42937251:T>G,NM_000287.3:c.1367+155A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,5.631,0.001,1KG_EUR_AF,PEX6
717285,6:42937256:T>G,NM_000287.3:c.1367+150A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,4.837,\N,\N,PEX6
717286,6:42937304:C>T,NM_000287.3:c.1367+102G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,7.997,0.001,1KG_SAS_AF,PEX6
717287,6:42937321:T>C,NM_000287.3:c.1367+85A>G,\N,\N,5/16,Unknown significance,\N,intron_variant,2.397,\N,\N,PEX6
717288,6:42937325:G>C,NM_000287.3:c.1367+81C>G,\N,\N,5/16,Benign,\N,intron_variant,0.301,0.0061,1KG_SAS_AF,PEX6
717289,6:42937329:T>G,NM_000287.3:c.1367+77A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,8.974,0.001,1KG_EUR_AF,PEX6
717290,6:42937332:C>G,NM_000287.3:c.1367+74G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,5.369,\N,\N,PEX6
717291,6:42937336:C>A,NM_000287.3:c.1367+70G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,2.873,\N,\N,PEX6
717292,6:42937359:G>T,NM_000287.3:c.1367+47C>A,\N,\N,5/16,Unknown significance,\N,intron_variant,6.463,0.000232558,EVS_EA_AF,PEX6
717293,6:42937361:T>C,NM_000287.3:c.1367+45A>G,\N,\N,5/16,Unknown significance,\N,intron_variant,6.465,0.000116279,EVS_EA_AF,PEX6
717294,6:42937363:T>TA,NM_000287.3:c.1367+42dup,\N,\N,5/16,Unknown significance,\N,intron_variant,3.362,\N,\N,PEX6
717295,6:42937371:C>T,NM_000287.3:c.1367+35G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,12.14,0.0014,1KG_AMR_AF,PEX6
717296,6:42937380:CACCCTGGGGTGATG>C,NM_000287.3:c.1367+12_1367+25del,\N,\N,5/16,Unknown significance,\N,intron_variant,4.859,\N,\N,PEX6
717297,6:42937383:C>T,NM_000287.3:c.1367+23G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,7.094,0.000115794,EXAC_EAS_AF,PEX6
717298,6:42937385:T>G,NM_000287.3:c.1367+21A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,1.496,0.000226963,EVS_AA_AF,PEX6
717299,6:42937394:G>A,NM_000287.3:c.1367+12C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,5.73,0.000097012,EXAC_AFR_AF,PEX6
717300,6:42937396:C>T,NM_000287.3:c.1367+10G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,10.97,0.000347222,EXAC_EAS_AF,PEX6
717301,6:42937404:AC>A,NM_000287.3:c.1367+1del,\N,\N,5/16,Pathogenic,Zellweger syndrome,splice_donor_variant,26.8,\N,\N,PEX6
717302,6:42937408:T>C,NM_000287.3:c.1365A>G,NP_000278.3:p.Pro455=,5/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.24,0.0000301141,EXAC_NFE_AF,PEX6
717303,6:42937412:T>C,NM_000287.3:c.1361A>G,NP_000278.3:p.Gln454Arg,5/17,\N,Unknown significance,\N,missense_variant,15.67,0.0000968617,EXAC_AFR_AF,PEX6
717304,6:42937418:C>T,NM_000287.3:c.1355G>A,NP_000278.3:p.Arg452His,5/17,\N,Likely benign,\N,missense_variant,23.6,0.000226963,EVS_AA_AF,PEX6
717305,6:42937419:G>A,NM_000287.3:c.1354C>T,NP_000278.3:p.Arg452Cys,5/17,\N,Unknown significance,\N,missense_variant,28.4,0.000121124,EXAC_SAS_AF,PEX6
717306,6:42937422:G>C,NM_000287.3:c.1351C>G,NP_000278.3:p.Pro451Ala,5/17,\N,Unknown significance,\N,missense_variant,23.6,0.000116279,EVS_EA_AF,PEX6
717307,6:42937422:G>T,NM_000287.3:c.1351C>A,NP_000278.3:p.Pro451Thr,5/17,\N,Unknown significance,\N,missense_variant,24,0.0000150295,EXAC_NFE_AF,PEX6
717308,6:42937423:C>T,NM_000287.3:c.1350G>A,NP_000278.3:p.Lys450=,5/17,\N,Unknown significance,\N,synonymous_variant,12.11,0.0000150267,EXAC_NFE_AF,PEX6
717309,6:42937425:T>G,NM_000287.3:c.1348A>C,NP_000278.3:p.Lys450Gln,5/17,\N,Likely benign,\N,missense_variant,15.09,0.000172891,EXAC_AMR_AF,PEX6
717310,6:42937431:C>T,NM_000287.3:c.1342G>A,NP_000278.3:p.Val448Ile,5/17,\N,Likely benign,\N,missense_variant,0.859,0.0000150213,EXAC_NFE_AF,PEX6
717311,6:42937433:GCA>G,NM_000287.3:c.1338_1339del,NP_000278.3:p.Ala447CysfsTer17,5/17,\N,Pathogenic,Peroxisome biogenesis disorder 4A,frameshift_variant,26,\N,\N,PEX6
717312,6:42937435:A>T,NM_000287.3:c.1338T>A,NP_000278.3:p.Cys446Ter,5/17,\N,Unknown significance,\N,stop_gained,35,0.000116279,EVS_EA_AF,PEX6
717313,6:42937438:G>C,NM_000287.3:c.1335C>G,NP_000278.3:p.Leu445=,5/17,\N,Unknown significance,\N,synonymous_variant,7.188,0.00158874,EVS_AA_AF,PEX6
717314,6:42937441:T>A,NM_000287.3:c.1332A>T,NP_000278.3:p.Glu444Asp,5/17,\N,Likely benign,\N,missense_variant,7.108,0.001,1KG_EUR_AF,PEX6
717315,6:42937447:C>T,NM_000287.3:c.1326G>A,NP_000278.3:p.Val442=,5/17,\N,Unknown significance,\N,synonymous_variant,12.41,0.000060562,EXAC_SAS_AF,PEX6
717316,6:42937451:AAGGCCTCC>A,NM_000287.3:c.1314_1321del,NP_000278.3:p.Glu439GlyfsTer3,5/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,33,0.000181686,EXAC_SAS_AF,PEX6
717317,6:42937452:AGGCCTCC>A,NM_000287.3:c.1314_1320del,NP_000278.3:p.Glu439TrpfsTer9,5/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
717318,6:42937455:C>A,NM_000287.3:c.1318G>T,NP_000278.3:p.Ala440Ser,5/17,\N,Likely benign,\N,missense_variant,0.016,0.001,1KG_SAS_AF,PEX6
717319,6:42937459:C>CA,NM_000287.3:c.1313dup,NP_000278.3:p.Glu439GlyfsTer6,5/17,\N,Unknown significance,\N,frameshift_variant,33,0.000115634,EXAC_EAS_AF,PEX6
717320,6:42937460:A>G,NM_000287.3:c.1313T>C,NP_000278.3:p.Leu438Pro,5/17,\N,Unknown significance,\N,missense_variant,26.5,0.000172951,EXAC_AMR_AF,PEX6
717321,6:42937461:G>T,NM_000287.3:c.1312C>A,NP_000278.3:p.Leu438Met,5/17,\N,Unknown significance,\N,missense_variant,22.6,0.000115634,EXAC_EAS_AF,PEX6
717322,6:42937462:G>A,NM_000287.3:c.1311C>T,NP_000278.3:p.Gly437=,5/17,\N,Unknown significance,\N,synonymous_variant,11.84,\N,\N,PEX6
717323,6:42937463:C>A,NM_000287.3:c.1310G>T,NP_000278.3:p.Gly437Val,5/17,\N,Unknown significance,\N,missense_variant,31,0.0000300147,EXAC_NFE_AF,PEX6
717324,6:42937463:C>T,NM_000287.3:c.1310G>A,NP_000278.3:p.Gly437Asp,5/17,\N,Unknown significance,\N,missense_variant,26.1,\N,\N,PEX6
717325,6:42937470:G>T,NM_000287.3:c.1303C>A,NP_000278.3:p.Pro435Thr,5/17,\N,Unknown significance,\N,missense_variant,21.3,0.0015,1KG_AFR_AF,PEX6
717326,6:42937471:AG>A,NM_000287.3:c.1301del,NP_000278.3:p.Ser434PhefsTer16,5/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,35,\N,\N,PEX6
717327,6:42937472:G>A,NM_000287.3:c.1301C>T,NP_000278.3:p.Ser434Phe,5/17,\N,Unknown significance,\N,missense_variant,31,0.000116279,EVS_EA_AF,PEX6
717328,6:42937474:C>T,NM_000287.3:c.1299G>A,NP_000278.3:p.Leu433=,5/17,\N,Unknown significance,\N,synonymous_variant,15.95,0.0000963206,EXAC_AFR_AF,PEX6
717329,6:42937479:T>G,NM_000287.3:c.1294A>C,NP_000278.3:p.Ser432Arg,5/17,\N,Unknown significance,\N,missense_variant,22.6,0.000462321,EXAC_EAS_AF,PEX6
717330,6:42937493:G>A,NM_000287.3:c.1280C>T,NP_000278.3:p.Ser427Phe,5/17,\N,Likely benign,\N,missense_variant,4.364,0.0000149948,EXAC_NFE_AF,PEX6
717331,6:42937502:G>A,NM_000287.3:c.1271C>T,NP_000278.3:p.Ser424Leu,5/17,\N,Likely benign,\N,missense_variant,12.23,0.0000605767,EXAC_SAS_AF,PEX6
717332,6:42937506:G>C,NM_000287.3:c.1267C>G,NP_000278.3:p.Pro423Ala,5/17,\N,Likely benign,\N,missense_variant,3.719,0.0000149921,EXAC_NFE_AF,PEX6
717333,6:42937513:T>C,NM_000287.3:c.1260A>G,NP_000278.3:p.Pro420=,5/17,\N,Unknown significance,\N,synonymous_variant,9.643,0.000121168,EXAC_SAS_AF,PEX6
717334,6:42937515:G>C,NM_000287.3:c.1258C>G,NP_000278.3:p.Pro420Ala,5/17,\N,Unknown significance,\N,missense_variant,25.7,0.0000864155,EXAC_AMR_AF,PEX6
717335,6:42937518:C>G,NM_000287.3:c.1255G>C,NP_000278.3:p.Val419Leu,5/17,\N,Unknown significance,\N,missense_variant,22.9,0.000181752,EXAC_SAS_AF,PEX6
717336,6:42937519:A>G,NM_000287.3:c.1254T>C,NP_000278.3:p.Pro418=,5/17,\N,Unknown significance,\N,synonymous_variant,6.55,0.0000149907,EXAC_NFE_AF,PEX6
717337,6:42937527:G>A,NM_000287.3:c.1246C>T,NP_000278.3:p.Leu416=,5/17,\N,Unknown significance,\N,synonymous_variant,12.42,0.0000149912,EXAC_NFE_AF,PEX6
717338,6:42937543:T>TAA,NM_000287.3:c.1234-5_1234-4insTT,\N,\N,4/16,Benign,\N,splice_region_variant&intron_variant,\N,\N,\N,PEX6
717339,6:42937544:G>GAA,NM_000287.3:c.1234-7_1234-6dup,\N,\N,4/16,Benign,\N,splice_region_variant&intron_variant,12.05,0.0923,1KG_AFR_AF,PEX6
717340,6:42937549:G>A,NM_000287.3:c.1234-10C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,10.17,0.000453926,EVS_AA_AF,PEX6
717341,6:42937550:T>C,NM_000287.3:c.1234-11A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,2.902,0.001,1KG_EUR_AF,PEX6
717342,6:42937553:T>C,NM_000287.3:c.1234-14A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,1.739,0.000121183,EXAC_SAS_AF,PEX6
717343,6:42937559:G>A,NM_000287.3:c.1234-20C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,0.993,0.0000605914,EXAC_SAS_AF,PEX6
717344,6:42937560:C>T,NM_000287.3:c.1234-21G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,5.338,0.0000149925,EXAC_NFE_AF,PEX6
717345,6:42937564:C>T,NM_000287.3:c.1234-25G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,1.233,0.0000149952,EXAC_NFE_AF,PEX6
717346,6:42937565:G>A,NM_000287.3:c.1234-26C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,1.013,0.00220751,EXAC_OTH_AF,PEX6
717347,6:42937575:A>C,NM_000287.3:c.1234-36T>G,\N,\N,4/16,Unknown significance,\N,intron_variant,2.308,0.0000864155,EXAC_AMR_AF,PEX6
717348,6:42937577:C>T,NM_000287.3:c.1234-38G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,5.611,0.001,1KG_EUR_AF,PEX6
717349,6:42937578:G>A,NM_000287.3:c.1234-39C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,4.837,0.00110375,EXAC_OTH_AF,PEX6
717350,6:42937584:AC>A,NM_000287.3:c.1233+38del,\N,\N,4/16,Unknown significance,\N,intron_variant,1.374,0.000192271,EXAC_AFR_AF,PEX6
717351,6:42937588:C>T,NM_000287.3:c.1233+35G>A,\N,\N,4/16,Benign,\N,intron_variant,8.643,0.0091,1KG_AFR_AF,PEX6
717352,6:42937590:T>G,NM_000287.3:c.1233+33A>C,\N,\N,4/16,Unknown significance,\N,intron_variant,6.422,0.001,1KG_SAS_AF,PEX6
717353,6:42937591:G>A,NM_000287.3:c.1233+32C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,3.043,0.000231267,EXAC_EAS_AF,PEX6
717354,6:42937592:C>T,NM_000287.3:c.1233+31G>A,\N,\N,4/16,Benign,\N,intron_variant,3.412,0.0102,1KG_SAS_AF,PEX6
717355,6:42937593:G>A,NM_000287.3:c.1233+30C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,2.549,0.000605222,EXAC_AMR_AF,PEX6
717356,6:42937594:C>CTGGTCTA,NM_000287.3:c.1233+22_1233+28dup,\N,\N,4/16,Unknown significance,\N,intron_variant,6.213,\N,\N,PEX6
717357,6:42937602:C>T,NM_000287.3:c.1233+21G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,6.365,0.00011558,EXAC_EAS_AF,PEX6
717358,6:42937608:T>C,NM_000287.3:c.1233+15A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,3.627,0.000121124,EXAC_SAS_AF,PEX6
717359,6:42937609:C>T,NM_000287.3:c.1233+14G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,8.415,0.000014988,EXAC_NFE_AF,PEX6
717360,6:42937622:C>T,NM_000287.3:c.1233+1G>A,\N,\N,4/16,Unknown significance,\N,splice_donor_variant,27.4,0.0000961169,EXAC_AFR_AF,PEX6
717361,6:42937624:A>G,NM_000287.3:c.1232T>C,NP_000278.3:p.Met411Thr,4/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.1,0.001,1KG_EUR_AF,PEX6
717362,6:42937625:T>C,NM_000287.3:c.1231A>G,NP_000278.3:p.Met411Val,4/17,\N,Likely benign,\N,missense_variant&splice_region_variant,11.54,0.0000149853,EXAC_NFE_AF,PEX6
717363,6:42937628:A>G,NM_000287.3:c.1228T>C,NP_000278.3:p.Tyr410His,4/17,\N,Unknown significance,\N,missense_variant,25.6,0.000453583,EXAC_FIN_AF,PEX6
717364,6:42937641:G>C,NM_000287.3:c.1215C>G,NP_000278.3:p.Thr405=,4/17,\N,Unknown significance,\N,synonymous_variant,9.37,0.0000299688,EXAC_NFE_AF,PEX6
717365,6:42937649:C>T,NM_000287.3:c.1207G>A,NP_000278.3:p.Asp403Asn,4/17,\N,Likely benign,\N,missense_variant,25.4,0.00272529,EXAC_SAS_AF,PEX6
717366,6:42937650:G>A,NM_000287.3:c.1206C>T,NP_000278.3:p.Ala402=,4/17,\N,Unknown significance,\N,synonymous_variant,14.95,0.000346661,EXAC_EAS_AF,PEX6
717367,6:42937658:A>T,NM_000287.3:c.1198T>A,NP_000278.3:p.Tyr400Asn,4/17,\N,Pathogenic,Zellweger syndrome,missense_variant,26.6,\N,\N,PEX6
717368,6:42937661:C>T,NM_000287.3:c.1195G>A,NP_000278.3:p.Ala399Thr,4/17,\N,Likely benign,\N,missense_variant,22.7,0.0000299688,EXAC_NFE_AF,PEX6
717369,6:42937662:A>G,NM_000287.3:c.1194T>C,NP_000278.3:p.Ser398=,4/17,\N,Unknown significance,\N,synonymous_variant,7.031,\N,\N,PEX6
717370,6:42937671:T>G,NM_000287.3:c.1185A>C,NP_000278.3:p.Gly395=,4/17,\N,Unknown significance,\N,synonymous_variant,2.198,\N,\N,PEX6
717371,6:42937673:C>G,NM_000287.3:c.1183G>C,NP_000278.3:p.Gly395Arg,4/17,\N,Likely benign,\N,missense_variant,9.468,0.0000150024,EXAC_NFE_AF,PEX6
717372,6:42937673:C>T,NM_000287.3:c.1183G>A,NP_000278.3:p.Gly395Arg,4/17,\N,Likely benign,\N,missense_variant,10.93,0.000060562,EXAC_SAS_AF,PEX6
717373,6:42937675:T>C,NM_000287.3:c.1181A>G,NP_000278.3:p.Asp394Gly,4/17,\N,Likely benign,\N,missense_variant,4.163,0.0000961723,EXAC_AFR_AF,PEX6
717374,6:42937678:G>A,NM_000287.3:c.1178C>T,NP_000278.3:p.Pro393Leu,4/17,\N,Likely benign,\N,missense_variant,9.81,0.0000149921,EXAC_NFE_AF,PEX6
717375,6:42937679:G>A,NM_000287.3:c.1177C>T,NP_000278.3:p.Pro393Ser,4/17,\N,Likely benign,\N,missense_variant,0.6,0.0000149867,EXAC_NFE_AF,PEX6
717376,6:42937680:A>G,NM_000287.3:c.1176T>C,NP_000278.3:p.Ala392=,4/17,\N,Unknown significance,\N,synonymous_variant,5.98,\N,\N,PEX6
717377,6:42937680:A>T,NM_000287.3:c.1176T>A,NP_000278.3:p.Ala392=,4/17,\N,Unknown significance,\N,synonymous_variant,1.533,\N,\N,PEX6
717378,6:42937685:C>T,NM_000287.3:c.1171G>A,NP_000278.3:p.Glu391Lys,4/17,\N,Benign,\N,missense_variant,19.2,0.00672818,EXAC_AFR_AF,PEX6
717379,6:42937687:C>G,NM_000287.3:c.1169G>C,NP_000278.3:p.Gly390Ala,4/17,\N,Unknown significance,\N,missense_variant,13.54,0.000226963,EVS_AA_AF,PEX6
717380,6:42937696:T>C,NM_000287.3:c.1160A>G,NP_000278.3:p.Lys387Arg,4/17,\N,Likely benign,\N,missense_variant,9.517,0.001,1KG_EUR_AF,PEX6
717381,6:42937702:A>C,NM_000287.3:c.1154T>G,NP_000278.3:p.Val385Gly,4/17,\N,Unknown significance,\N,missense_variant,26.1,0.0000149975,EXAC_NFE_AF,PEX6
717382,6:42937706:T>G,NM_000287.3:c.1150A>C,NP_000278.3:p.Lys384Gln,4/17,\N,Unknown significance,\N,missense_variant,25.4,0.00025965,EXAC_AMR_AF,PEX6
717383,6:42937708:A>G,NM_000287.3:c.1148T>C,NP_000278.3:p.Phe383Ser,4/17,\N,Unknown significance,\N,missense_variant,31,0.000115687,EXAC_EAS_AF,PEX6
717384,6:42937711:A>C,NM_000287.3:c.1145T>G,NP_000278.3:p.Phe382Cys,4/17,\N,Unknown significance,\N,missense_variant,25.9,0.00017316,EXAC_AMR_AF,PEX6
717385,6:42937713:C>T,NM_000287.3:c.1143G>A,NP_000278.3:p.Met381Ile,4/17,\N,Likely benign,\N,missense_variant,17.25,0.000116279,EVS_EA_AF,PEX6
717386,6:42937714:A>G,NM_000287.3:c.1142T>C,NP_000278.3:p.Met381Thr,4/17,\N,Unknown significance,\N,missense_variant,23.1,0.0000964134,EXAC_AFR_AF,PEX6
717387,6:42937714:A>T,NM_000287.3:c.1142T>A,NP_000278.3:p.Met381Lys,4/17,\N,Unknown significance,\N,missense_variant,23.6,0.000015015,EXAC_NFE_AF,PEX6
717388,6:42937717:T>C,NM_000287.3:c.1139A>G,NP_000278.3:p.Glu380Gly,4/17,\N,Likely benign,\N,missense_variant,15.99,\N,\N,PEX6
717389,6:42937719:C>A,NM_000287.3:c.1137G>T,NP_000278.3:p.Arg379=,4/17,\N,Unknown significance,\N,synonymous_variant,17.99,0.0000300625,EXAC_NFE_AF,PEX6
717390,6:42937720:C>A,NM_000287.3:c.1136G>T,NP_000278.3:p.Arg379Leu,4/17,\N,Likely benign,\N,missense_variant,19.06,0.000152952,EXAC_FIN_AF,PEX6
717391,6:42937720:C>T,NM_000287.3:c.1136G>A,NP_000278.3:p.Arg379Gln,4/17,\N,Likely benign,\N,missense_variant,15.32,0.000116171,EXAC_EAS_AF,PEX6
717392,6:42937725:C>T,NM_000287.3:c.1131G>A,NP_000278.3:p.Arg377=,4/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,17.43,0.000015067,EXAC_NFE_AF,PEX6
717393,6:42937726:C>G,NM_000287.3:c.1131-1G>C,\N,\N,3/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,25.9,\N,\N,PEX6
717394,6:42937732:G>A,NM_000287.3:c.1131-7C>T,\N,\N,3/16,Unknown significance,\N,splice_region_variant&intron_variant,8.028,0.0000973899,EXAC_AFR_AF,PEX6
717395,6:42937735:A>G,NM_000287.3:c.1131-10T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,6.888,\N,\N,PEX6
717396,6:42937743:A>G,NM_000287.3:c.1131-18T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,5.511,0.002,1KG_SAS_AF,PEX6
717397,6:42937744:A>T,NM_000287.3:c.1131-19T>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.644,0.0000153247,EXAC_NFE_AF,PEX6
717398,6:42937749:C>T,NM_000287.3:c.1131-24G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,6.073,0.00325581,EVS_EA_AF,PEX6
717399,6:42937750:C>G,NM_000287.3:c.1131-25G>C,\N,\N,3/16,Benign,\N,intron_variant,5.21,0.0083,1KG_AFR_AF,PEX6
717400,6:42937770:A>AC,NM_000287.3:c.1131-46dup,\N,\N,3/16,Unknown significance,\N,intron_variant,0.275,0.000015917,EXAC_NFE_AF,PEX6
717401,6:42937773:C>G,NM_000287.3:c.1131-48G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,3.171,0.000015919,EXAC_NFE_AF,PEX6
717402,6:42937773:C>T,NM_000287.3:c.1131-48G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.531,0.0038,1KG_AFR_AF,PEX6
717403,6:42937776:C>G,NM_000287.3:c.1131-51G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,4.873,0.0000160231,EXAC_NFE_AF,PEX6
717404,6:42937790:G>A,NM_000287.3:c.1131-65C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.188,0.001,1KG_EAS_AF,PEX6
717405,6:42937791:G>A,NM_000287.3:c.1131-66C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,3.176,0.001,1KG_EAS_AF,PEX6
717406,6:42937806:A>G,NM_000287.3:c.1131-81T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,6.076,\N,\N,PEX6
717407,6:42937831:C>T,NM_000287.3:c.1131-106G>A,\N,\N,3/16,Benign,\N,intron_variant,1.851,0.034,1KG_AFR_AF,PEX6
717408,6:42937832:G>A,NM_000287.3:c.1131-107C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,3.145,0.0008,1KG_AFR_AF,PEX6
717409,6:42937838:C>T,NM_000287.3:c.1131-113G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,4.016,0.001,1KG_SAS_AF,PEX6
717410,6:42937839:G>A,NM_000287.3:c.1131-114C>T,\N,\N,3/16,Benign,\N,intron_variant,2.703,0.034,1KG_AFR_AF,PEX6
717411,6:42937880:C>A,NM_000287.3:c.1131-155G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,7.567,0.0015,1KG_AFR_AF,PEX6
717412,6:42937935:T>C,NM_000287.3:c.1131-210A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.255,\N,\N,PEX6
717413,6:42937940:C>T,NM_000287.3:c.1131-215G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.71,\N,\N,PEX6
717414,6:42937944:A>C,NM_000287.3:c.1131-219T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.736,\N,\N,PEX6
717415,6:42937986:T>C,NM_000287.3:c.1131-261A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,3.05,0.0008,1KG_AFR_AF,PEX6
717416,6:42937994:C>A,NM_000287.3:c.1131-269G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.889,\N,\N,PEX6
717417,6:42937997:C>T,NM_000287.3:c.1131-272G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.266,\N,\N,PEX6
717418,6:42938009:G>C,NM_000287.3:c.1131-284C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.537,\N,\N,PEX6
717419,6:42938012:G>A,NM_000287.3:c.1131-287C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,3.6,\N,\N,PEX6
717420,6:42938015:G>C,NM_000287.3:c.1131-290C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.614,\N,\N,PEX6
717421,6:42938064:G>A,NM_000287.3:c.1131-339C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,6.067,0.001,1KG_EAS_AF,PEX6
717422,6:42938135:C>T,NM_000287.3:c.1131-410G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,1.409,\N,\N,PEX6
717423,6:42938139:A>C,NM_000287.3:c.1131-414T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.694,0.001,1KG_EUR_AF,PEX6
717424,6:42938143:C>T,NM_000287.3:c.1131-418G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.506,\N,\N,PEX6
717425,6:42938166:G>T,NM_000287.3:c.1131-441C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,0.183,\N,\N,PEX6
717426,6:42938193:A>C,NM_000287.3:c.1131-468T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.99,0.0014,1KG_AMR_AF,PEX6
717427,6:42938229:G>A,NM_000287.3:c.1131-504C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.628,\N,\N,PEX6
717428,6:42938234:A>G,NM_000287.3:c.1131-509T>C,\N,\N,3/16,Benign,\N,intron_variant,8.893,0.1167,1KG_AMR_AF,PEX6
717429,6:42938271:T>C,NM_000287.3:c.1131-546A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,6.412,\N,\N,PEX6
717430,6:42938282:G>C,NM_000287.3:c.1131-557C>G,\N,\N,3/16,Benign,\N,intron_variant,3.759,0.0053,1KG_AFR_AF,PEX6
717431,6:42938349:T>C,NM_000287.3:c.1131-624A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,7.711,0.0008,1KG_AFR_AF,PEX6
717432,6:42938357:T>C,NM_000287.3:c.1131-632A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.278,\N,\N,PEX6
717433,6:42938377:G>T,NM_000287.3:c.1131-652C>A,\N,\N,3/16,Benign,\N,intron_variant,5.578,0.795,1KG_AFR_AF,PEX6
717434,6:42938384:T>A,NM_000287.3:c.1131-659A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.474,\N,\N,PEX6
717435,6:42938390:T>TG,NM_000287.3:c.1131-666dup,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717436,6:42938395:G>A,NM_000287.3:c.1131-670C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,2.644,\N,\N,PEX6
717437,6:42938427:A>G,NM_000287.3:c.1131-702T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,1.991,0.001,1KG_EUR_AF,PEX6
717438,6:42938492:C>T,NM_000287.3:c.1131-767G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,6.047,0.001,1KG_SAS_AF,PEX6
717439,6:42938529:C>T,NM_000287.3:c.1131-804G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.497,0.0023,1KG_AFR_AF,PEX6
717440,6:42938544:A>G,NM_000287.3:c.1131-819T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,6.538,0.001,1KG_SAS_AF,PEX6
717441,6:42938620:C>T,NM_000287.3:c.1131-895G>A,\N,\N,3/16,Benign,\N,intron_variant,5.274,0.1769,1KG_SAS_AF,PEX6
717442,6:42938621:G>A,NM_000287.3:c.1131-896C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.468,\N,\N,PEX6
717443,6:42938630:G>A,NM_000287.3:c.1131-905C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.523,0.001,1KG_EAS_AF,PEX6
717444,6:42938632:C>T,NM_000287.3:c.1131-907G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.997,\N,\N,PEX6
717445,6:42938661:A>G,NM_000287.3:c.1131-936T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,9.381,0.002,1KG_EAS_AF,PEX6
717446,6:42938670:C>T,NM_000287.3:c.1131-945G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,8.673,\N,\N,PEX6
717447,6:42938677:T>C,NM_000287.3:c.1131-952A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.573,0.001,1KG_SAS_AF,PEX6
717448,6:42938722:A>G,NM_000287.3:c.1131-997T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,2.478,\N,\N,PEX6
717449,6:42938728:C>A,NM_000287.3:c.1131-1003G>T,\N,\N,3/16,Benign,\N,intron_variant,5.837,0.084,1KG_AFR_AF,PEX6
717450,6:42938742:C>T,NM_000287.3:c.1131-1017G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,6.165,\N,\N,PEX6
717451,6:42938747:T>A,NM_000287.3:c.1131-1022A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.963,\N,\N,PEX6
717452,6:42938751:C>T,NM_000287.3:c.1131-1026G>A,\N,\N,3/16,Benign,\N,intron_variant,4.36,0.3548,1KG_AFR_AF,PEX6
717453,6:42938754:C>A,NM_000287.3:c.1131-1029G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.095,\N,\N,PEX6
717454,6:42938758:C>A,NM_000287.3:c.1131-1033G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.354,\N,\N,PEX6
717455,6:42938785:T>C,NM_000287.3:c.1131-1060A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.549,0.001,1KG_EAS_AF,PEX6
717456,6:42938867:G>A,NM_000287.3:c.1131-1142C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,6.859,\N,\N,PEX6
717457,6:42938916:G>A,NM_000287.3:c.1131-1191C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,11,0.002,1KG_SAS_AF,PEX6
717458,6:42938933:C>CAGAA,NM_000287.3:c.1131-1209_1131-1208insTTCT,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717459,6:42938943:C>T,NM_000287.3:c.1131-1218G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,8.273,\N,\N,PEX6
717460,6:42939072:T>C,NM_000287.3:c.1131-1347A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,4.049,\N,\N,PEX6
717461,6:42939082:G>A,NM_000287.3:c.1131-1357C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.292,0.0015,1KG_AFR_AF,PEX6
717462,6:42939128:A>C,NM_000287.3:c.1131-1403T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,3.976,0.001,1KG_SAS_AF,PEX6
717463,6:42939179:A>C,NM_000287.3:c.1131-1454T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,7.343,0.0043,1KG_AMR_AF,PEX6
717464,6:42939182:T>TC,NM_000287.3:c.1131-1458dup,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717465,6:42939241:G>A,NM_000287.3:c.1131-1516C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.632,0.001,1KG_EUR_AF,PEX6
717466,6:42939285:G>A,NM_000287.3:c.1131-1560C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,12.56,\N,\N,PEX6
717467,6:42939364:T>C,NM_000287.3:c.1131-1639A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,12.41,\N,\N,PEX6
717468,6:42939393:C>T,NM_000287.3:c.1131-1668G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,4.176,\N,\N,PEX6
717469,6:42939444:C>A,NM_000287.3:c.1131-1719G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.356,\N,\N,PEX6
717470,6:42939450:T>C,NM_000287.3:c.1131-1725A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,3.805,0.001,1KG_SAS_AF,PEX6
717471,6:42939455:G>T,NM_000287.3:c.1131-1730C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,3.817,\N,\N,PEX6
717472,6:42939475:G>A,NM_000287.3:c.1131-1750C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.663,\N,\N,PEX6
717473,6:42939503:A>G,NM_000287.3:c.1131-1778T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,10.82,\N,\N,PEX6
717474,6:42939530:C>G,NM_000287.3:c.1131-1805G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,1.222,0.001,1KG_SAS_AF,PEX6
717475,6:42939581:T>A,NM_000287.3:c.1131-1856A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,13.13,\N,\N,PEX6
717476,6:42939591:AAG>A,NM_000287.3:c.1131-1868_1131-1867del,\N,\N,3/16,Benign,\N,intron_variant,11.64,0.0278,1KG_EAS_AF,PEX6
717477,6:42939597:G>A,NM_000287.3:c.1131-1872C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,13.07,0.0008,1KG_AFR_AF,PEX6
717478,6:42939664:G>A,NM_000287.3:c.1131-1939C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.094,\N,\N,PEX6
717479,6:42939664:G>C,NM_000287.3:c.1131-1939C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.049,0.001,1KG_SAS_AF,PEX6
717480,6:42939737:G>A,NM_000287.3:c.1130+2004C>T,\N,\N,3/16,Benign,\N,intron_variant,1.4,0.031,1KG_AFR_AF,PEX6
717481,6:42939780:C>T,NM_000287.3:c.1130+1961G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.038,\N,\N,PEX6
717482,6:42939783:C>T,NM_000287.3:c.1130+1958G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,3.534,0.0008,1KG_AFR_AF,PEX6
717483,6:42939808:T>C,NM_000287.3:c.1130+1933A>G,\N,\N,3/16,Benign,\N,intron_variant,4.98,0.1769,1KG_SAS_AF,PEX6
717484,6:42939844:A>AAC,NM_000287.3:c.1130+1895_1130+1896dup,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717485,6:42939844:AAC>A,NM_000287.3:c.1130+1895_1130+1896del,\N,\N,3/16,Benign,\N,intron_variant,13.14,0.999,1KG_EAS_AF,PEX6
717486,6:42939846:C>T,NM_000287.3:c.1130+1895G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,15.41,\N,\N,PEX6
717487,6:42939867:A>C,NM_000287.3:c.1130+1874T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.112,\N,\N,PEX6
717488,6:42939896:G>A,NM_000287.3:c.1130+1845C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,9.491,\N,\N,PEX6
717489,6:42940018:A>T,NM_000287.3:c.1130+1723T>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.752,\N,\N,PEX6
717490,6:42940036:C>T,NM_000287.3:c.1130+1705G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,3.218,0.001,1KG_EAS_AF,PEX6
717491,6:42940060:G>C,NM_000287.3:c.1130+1681C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.914,\N,\N,PEX6
717492,6:42940158:G>A,NM_000287.3:c.1130+1583C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,11.6,0.001,1KG_EUR_AF,PEX6
717493,6:42940169:A>C,NM_000287.3:c.1130+1572T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,10.34,0.0008,1KG_AFR_AF,PEX6
717494,6:42940171:T>G,NM_000287.3:c.1130+1570A>C,\N,\N,3/16,Benign,\N,intron_variant,11.82,0.0091,1KG_AFR_AF,PEX6
717495,6:42940234:T>C,NM_000287.3:c.1130+1507A>G,\N,\N,3/16,Benign,\N,intron_variant,9.251,0.1362,1KG_AFR_AF,PEX6
717496,6:42940235:G>A,NM_000287.3:c.1130+1506C>T,\N,\N,3/16,Benign,\N,intron_variant,9.479,0.4622,1KG_EUR_AF,PEX6
717497,6:42940240:G>A,NM_000287.3:c.1130+1501C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,13.78,0.001,1KG_EAS_AF,PEX6
717498,6:42940247:G>T,NM_000287.3:c.1130+1494C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,15.71,0.0008,1KG_AFR_AF,PEX6
717499,6:42940260:G>C,NM_000287.3:c.1130+1481C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,16.08,0.001,1KG_EUR_AF,PEX6
717500,6:42940279:C>T,NM_000287.3:c.1130+1462G>A,\N,\N,3/16,Benign,\N,intron_variant,8.713,0.0091,1KG_AFR_AF,PEX6
717501,6:42940280:G>A,NM_000287.3:c.1130+1461C>T,\N,\N,3/16,Benign,\N,intron_variant,7.073,0.0356,1KG_AFR_AF,PEX6
717502,6:42940298:GGAGAT>G,NM_000287.3:c.1130+1438_1130+1442del,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717503,6:42940300:AG>A,NM_000287.3:c.1130+1440del,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717504,6:42940324:C>T,NM_000287.3:c.1130+1417G>A,\N,\N,3/16,Benign,\N,intron_variant,0.361,0.0278,1KG_EAS_AF,PEX6
717505,6:42940340:C>T,NM_000287.3:c.1130+1401G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,1.81,\N,\N,PEX6
717506,6:42940365:G>A,NM_000287.3:c.1130+1376C>T,\N,\N,3/16,Benign,\N,intron_variant,1.226,0.4622,1KG_EUR_AF,PEX6
717507,6:42940369:G>A,NM_000287.3:c.1130+1372C>T,\N,\N,3/16,Benign,\N,intron_variant,1.095,0.1241,1KG_AFR_AF,PEX6
717508,6:42940381:A>C,NM_000287.3:c.1130+1360T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.093,\N,\N,PEX6
717509,6:42940395:C>T,NM_000287.3:c.1130+1346G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.854,\N,\N,PEX6
717510,6:42940413:C>T,NM_000287.3:c.1130+1328G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,6.166,0.0023,1KG_AFR_AF,PEX6
717511,6:42940440:G>A,NM_000287.3:c.1130+1301C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,1.62,0.001,1KG_EAS_AF,PEX6
717512,6:42940450:G>A,NM_000287.3:c.1130+1291C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,1.698,\N,\N,PEX6
717513,6:42940464:C>T,NM_000287.3:c.1130+1277G>A,\N,\N,3/16,Benign,\N,intron_variant,2.627,0.0098,1KG_AFR_AF,PEX6
717514,6:42940503:G>A,NM_000287.3:c.1130+1238C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,1.541,0.0008,1KG_AFR_AF,PEX6
717515,6:42940507:CA>C,NM_000287.3:c.1130+1233del,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717516,6:42940524:AAAG>A,NM_000287.3:c.1130+1214_1130+1216del,\N,\N,3/16,Benign,\N,intron_variant,0.41,0.3555,1KG_AFR_AF,PEX6
717517,6:42940525:AAG>A,NM_000287.3:c.1130+1214_1130+1215del,\N,\N,3/16,Benign,\N,intron_variant,0.412,0.4024,1KG_AFR_AF,PEX6
717518,6:42940525:AAGAG>A,NM_000287.3:c.1130+1212_1130+1215del,\N,\N,3/16,Unknown significance,\N,intron_variant,2.735,\N,\N,PEX6
717519,6:42940526:AG>A,NM_000287.3:c.1130+1214del,\N,\N,3/16,Unknown significance,\N,intron_variant,0.014,\N,\N,PEX6
717520,6:42940527:G>A,NM_000287.3:c.1130+1214C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.051,\N,\N,PEX6
717521,6:42940527:G>C,NM_000287.3:c.1130+1214C>G,\N,\N,3/16,Benign,\N,intron_variant,0.008,0.0356,1KG_AFR_AF,PEX6
717522,6:42940529:G>A,NM_000287.3:c.1130+1212C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.156,\N,\N,PEX6
717523,6:42940555:A>G,NM_000287.3:c.1130+1186T>C,\N,\N,3/16,Benign,\N,intron_variant,10.13,0.0286,1KG_SAS_AF,PEX6
717524,6:42940620:C>T,NM_000287.3:c.1130+1121G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,1.028,\N,\N,PEX6
717525,6:42940621:G>A,NM_000287.3:c.1130+1120C>T,\N,\N,3/16,Benign,\N,intron_variant,2.531,0.0634,1KG_SAS_AF,PEX6
717526,6:42940639:T>C,NM_000287.3:c.1130+1102A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.585,0.001,1KG_SAS_AF,PEX6
717527,6:42940646:A>C,NM_000287.3:c.1130+1095T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.353,0.0008,1KG_AFR_AF,PEX6
717528,6:42940665:C>T,NM_000287.3:c.1130+1076G>A,\N,\N,3/16,Benign,\N,intron_variant,3.421,0.0091,1KG_AFR_AF,PEX6
717529,6:42940673:A>G,NM_000287.3:c.1130+1068T>C,\N,\N,3/16,Benign,\N,intron_variant,2.884,0.9788,1KG_AFR_AF,PEX6
717530,6:42940698:C>T,NM_000287.3:c.1130+1043G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,4.76,0.001,1KG_EAS_AF,PEX6
717531,6:42940743:A>G,NM_000287.3:c.1130+998T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,0.58,0.001,1KG_EUR_AF,PEX6
717532,6:42940790:C>T,NM_000287.3:c.1130+951G>A,\N,\N,3/16,Benign,\N,intron_variant,2.352,0.0053,1KG_AFR_AF,PEX6
717533,6:42940798:G>A,NM_000287.3:c.1130+943C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.232,0.001,1KG_EAS_AF,PEX6
717534,6:42940810:T>C,NM_000287.3:c.1130+931A>G,\N,\N,3/16,Benign,\N,intron_variant,1.475,0.8949,1KG_AFR_AF,PEX6
717535,6:42940812:C>A,NM_000287.3:c.1130+929G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.437,\N,\N,PEX6
717536,6:42940822:T>A,NM_000287.3:c.1130+919A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,4.382,0.001,1KG_SAS_AF,PEX6
717537,6:42940844:G>A,NM_000287.3:c.1130+897C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,2.07,0.001,1KG_EUR_AF,PEX6
717538,6:42940862:G>A,NM_000287.3:c.1130+879C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.077,\N,\N,PEX6
717539,6:42940893:A>G,NM_000287.3:c.1130+848T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,0.199,\N,\N,PEX6
717540,6:42940910:C>T,NM_000287.3:c.1130+831G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,0.39,\N,\N,PEX6
717541,6:42940980:C>A,NM_000287.3:c.1130+761G>T,\N,\N,3/16,Benign,\N,intron_variant,7.151,0.0278,1KG_EAS_AF,PEX6
717542,6:42940988:G>A,NM_000287.3:c.1130+753C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,2.793,\N,\N,PEX6
717543,6:42941042:A>G,NM_000287.3:c.1130+699T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,0.729,\N,\N,PEX6
717544,6:42941054:CTCT>C,NM_000287.3:c.1130+684_1130+686del,\N,\N,3/16,Benign,\N,intron_variant,6.143,0.1082,1KG_AFR_AF,PEX6
717545,6:42941078:T>C,NM_000287.3:c.1130+663A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.736,0.001,1KG_SAS_AF,PEX6
717546,6:42941103:A>C,NM_000287.3:c.1130+638T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,5.778,0.0023,1KG_AFR_AF,PEX6
717547,6:42941121:G>T,NM_000287.3:c.1130+620C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.563,\N,\N,PEX6
717548,6:42941176:G>A,NM_000287.3:c.1130+565C>T,\N,\N,3/16,Benign,\N,intron_variant,5.7,0.1769,1KG_SAS_AF,PEX6
717549,6:42941189:A>G,NM_000287.3:c.1130+552T>C,\N,\N,3/16,Benign,\N,intron_variant,2.759,0.0069,1KG_EAS_AF,PEX6
717550,6:42941202:A>G,NM_000287.3:c.1130+539T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,4.659,0.001,1KG_EUR_AF,PEX6
717551,6:42941253:C>G,NM_000287.3:c.1130+488G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,5.617,0.0031,1KG_SAS_AF,PEX6
717552,6:42941275:C>G,NM_000287.3:c.1130+466G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,0.111,\N,\N,PEX6
717553,6:42941324:T>C,NM_000287.3:c.1130+417A>G,\N,\N,3/16,Benign,\N,intron_variant,1.382,0.795,1KG_AFR_AF,PEX6
717554,6:42941356:C>T,NM_000287.3:c.1130+385G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.016,\N,\N,PEX6
717555,6:42941357:A>G,NM_000287.3:c.1130+384T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,4.193,\N,\N,PEX6
717556,6:42941378:C>G,NM_000287.3:c.1130+363G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,2.036,\N,\N,PEX6
717557,6:42941411:C>A,NM_000287.3:c.1130+330G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,2.938,\N,\N,PEX6
717558,6:42941411:C>T,NM_000287.3:c.1130+330G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.924,\N,\N,PEX6
717559,6:42941419:T>C,NM_000287.3:c.1130+322A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,3.209,\N,\N,PEX6
717560,6:42941420:A>G,NM_000287.3:c.1130+321T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,1.925,\N,\N,PEX6
717561,6:42941430:A>G,NM_000287.3:c.1130+311T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,5.163,\N,\N,PEX6
717562,6:42941450:T>A,NM_000287.3:c.1130+291A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.638,0.0023,1KG_AFR_AF,PEX6
717563,6:42941454:C>T,NM_000287.3:c.1130+287G>A,\N,\N,3/16,Benign,\N,intron_variant,0.535,0.0119,1KG_EUR_AF,PEX6
717564,6:42941463:G>A,NM_000287.3:c.1130+278C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.631,0.001,1KG_EAS_AF,PEX6
717565,6:42941465:G>A,NM_000287.3:c.1130+276C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.042,0.001,1KG_EAS_AF,PEX6
717566,6:42941539:C>A,NM_000287.3:c.1130+202G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.7,0.0008,1KG_AFR_AF,PEX6
717567,6:42941548:G>A,NM_000287.3:c.1130+193C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,9.805,0.001,1KG_EAS_AF,PEX6
717568,6:42941594:C>T,NM_000287.3:c.1130+147G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.587,\N,\N,PEX6
717569,6:42941609:C>T,NM_000287.3:c.1130+132G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.554,\N,\N,PEX6
717570,6:42941611:C>T,NM_000287.3:c.1130+130G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,0.464,\N,\N,PEX6
717571,6:42941620:A>C,NM_000287.3:c.1130+121T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,1.003,0.0015,1KG_AFR_AF,PEX6
717572,6:42941624:T>TA,NM_000287.3:c.1130+116dup,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717573,6:42941633:A>G,NM_000287.3:c.1130+108T>C,\N,\N,3/16,Benign,\N,intron_variant,4.801,0.1248,1KG_AFR_AF,PEX6
717574,6:42941635:G>A,NM_000287.3:c.1130+106C>T,\N,\N,3/16,Benign,\N,intron_variant,2.284,0.0998,1KG_AFR_AF,PEX6
717575,6:42941646:G>A,NM_000287.3:c.1130+95C>T,\N,\N,3/16,Benign,\N,intron_variant,1.721,0.0416,1KG_AFR_AF,PEX6
717576,6:42941665:T>A,NM_000287.3:c.1130+76A>T,\N,\N,3/16,Benign,\N,intron_variant,3.598,0.005,1KG_EAS_AF,PEX6
717577,6:42941675:G>A,NM_000287.3:c.1130+66C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,1.161,\N,\N,PEX6
717578,6:42941675:G>C,NM_000287.3:c.1130+66C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.191,\N,\N,PEX6
717579,6:42941692:T>C,NM_000287.3:c.1130+49A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,4.076,0.000061237,EXAC_SAS_AF,PEX6
717580,6:42941692:T>G,NM_000287.3:c.1130+49A>C,\N,\N,3/16,Unknown significance,\N,intron_variant,5.255,0.000015229,EXAC_NFE_AF,PEX6
717581,6:42941694:C>T,NM_000287.3:c.1130+47G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,3.596,0.000116279,EVS_EA_AF,PEX6
717582,6:42941709:T>C,NM_000287.3:c.1130+32A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,10.92,0.0000151722,EXAC_NFE_AF,PEX6
717583,6:42941717:G>A,NM_000287.3:c.1130+24C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.082,0.0000151318,EXAC_NFE_AF,PEX6
717584,6:42941723:C>T,NM_000287.3:c.1130+18G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,4.901,0.001,1KG_EAS_AF,PEX6
717585,6:42941725:G>GT,NM_000287.3:c.1130+15_1130+16insA,\N,\N,3/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717586,6:42941740:C>T,NM_000287.3:c.1130+1G>A,\N,\N,3/16,Pathogenic,Zellweger syndrome C,splice_donor_variant,28,\N,\N,PEX6
717587,6:42941747:A>C,NM_000287.3:c.1124T>G,NP_000278.3:p.Leu375Arg,3/17,\N,Unknown significance,\N,missense_variant,24.5,0.0000150466,EXAC_NFE_AF,PEX6
717588,6:42941748:G>C,NM_000287.3:c.1123C>G,NP_000278.3:p.Leu375Val,3/17,\N,Likely benign,\N,missense_variant,15.4,0.000086881,EXAC_AMR_AF,PEX6
717589,6:42941755:T>C,NM_000287.3:c.1116A>G,NP_000278.3:p.Pro372=,3/17,\N,Unknown significance,\N,synonymous_variant,7.669,0.001,1KG_SAS_AF,PEX6
717590,6:42941756:G>A,NM_000287.3:c.1115C>T,NP_000278.3:p.Pro372Leu,3/17,\N,Likely benign,\N,missense_variant,22.6,0.000121389,EXAC_SAS_AF,PEX6
717591,6:42941767:C>T,NM_000287.3:c.1104G>A,NP_000278.3:p.Leu368=,3/17,\N,Unknown significance,\N,synonymous_variant,14.25,0.001,1KG_SAS_AF,PEX6
717592,6:42941768:A>G,NM_000287.3:c.1103T>C,NP_000278.3:p.Leu368Pro,3/17,\N,Unknown significance,\N,missense_variant,25.4,\N,\N,PEX6
717593,6:42941786:A>G,NM_000287.3:c.1085T>C,NP_000278.3:p.Ile362Thr,3/17,\N,Likely benign,\N,missense_variant,11.44,0.0008,1KG_AFR_AF,PEX6
717594,6:42941789:G>A,NM_000287.3:c.1082C>T,NP_000278.3:p.Thr361Ile,3/17,\N,Unknown significance,\N,missense_variant,24.6,0.000289352,EXAC_AFR_AF,PEX6
717595,6:42941790:T>C,NM_000287.3:c.1081A>G,NP_000278.3:p.Thr361Ala,3/17,\N,Unknown significance,\N,missense_variant,15.22,0.0015,1KG_AFR_AF,PEX6
717596,6:42941794:C>T,NM_000287.3:c.1077G>A,NP_000278.3:p.Val359=,3/17,\N,Unknown significance,\N,synonymous_variant,16.14,0.0000149993,EXAC_NFE_AF,PEX6
717597,6:42941798:CA>C,NM_000287.3:c.1072del,NP_000278.3:p.Cys358ValfsTer8,3/17,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,PEX6
717598,6:42941800:T>C,NM_000287.3:c.1071A>G,NP_000278.3:p.Leu357=,3/17,\N,Benign,\N,synonymous_variant,7.931,0.0121,1KG_AFR_AF,PEX6
717599,6:42941811:C>T,NM_000287.3:c.1060G>A,NP_000278.3:p.Gly354Arg,3/17,\N,Unknown significance,\N,missense_variant,34,0.0000605767,EXAC_SAS_AF,PEX6
717600,6:42941817:G>A,NM_000287.3:c.1054C>T,NP_000278.3:p.Gln352Ter,3/17,\N,Pathogenic,Zellweger syndrome,stop_gained,39,\N,\N,PEX6
717601,6:42941825:C>T,NM_000287.3:c.1047-1G>A,\N,\N,2/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,27.1,\N,\N,PEX6
717602,6:42941826:T>C,NM_000287.3:c.1047-2A>G,\N,\N,2/16,Pathogenic,Zellweger syndrome,splice_acceptor_variant,25.4,\N,\N,PEX6
717603,6:42941828:C>A,NM_000287.3:c.1047-4G>T,\N,\N,2/16,Unknown significance,\N,splice_region_variant&intron_variant,15.44,0.0000865351,EXAC_AMR_AF,PEX6
717604,6:42941831:C>T,NM_000287.3:c.1047-7G>A,\N,\N,2/16,Unknown significance,\N,splice_region_variant&intron_variant,17.98,0.0000149943,EXAC_NFE_AF,PEX6
717605,6:42941840:G>A,NM_000287.3:c.1047-16C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,10.84,0.0000605987,EXAC_SAS_AF,PEX6
717606,6:42941845:TG>T,NM_000287.3:c.1047-22del,\N,\N,2/16,Unknown significance,\N,intron_variant,10.88,0.00011566,EXAC_EAS_AF,PEX6
717607,6:42941846:G>A,NM_000287.3:c.1047-22C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,10.86,0.0000605987,EXAC_SAS_AF,PEX6
717608,6:42941846:G>T,NM_000287.3:c.1047-22C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,9.71,0.0000150002,EXAC_NFE_AF,PEX6
717609,6:42941847:G>A,NM_000287.3:c.1047-23C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,14.26,0.0000605987,EXAC_SAS_AF,PEX6
717610,6:42941850:A>G,NM_000287.3:c.1047-26T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,16.27,0.0000149984,EXAC_NFE_AF,PEX6
717611,6:42941852:G>T,NM_000287.3:c.1047-28C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,12.68,0.000231321,EXAC_EAS_AF,PEX6
717612,6:42941856:C>A,NM_000287.3:c.1047-32G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,14.92,0.000226963,EVS_AA_AF,PEX6
717613,6:42941856:C>G,NM_000287.3:c.1047-32G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,13.75,0.0000299994,EXAC_NFE_AF,PEX6
717614,6:42941858:A>G,NM_000287.3:c.1047-34T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,8.926,0.00110619,EXAC_OTH_AF,PEX6
717615,6:42941862:G>T,NM_000287.3:c.1047-38C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,9.567,0.00017331,EXAC_AMR_AF,PEX6
717616,6:42941864:G>A,NM_000287.3:c.1047-40C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,8.634,\N,\N,PEX6
717617,6:42941870:A>G,NM_000287.3:c.1047-46T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.908,0.0000867303,EXAC_AMR_AF,PEX6
717618,6:42941889:A>G,NM_000287.3:c.1047-65T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.938,0.0014,1KG_AMR_AF,PEX6
717619,6:42941900:C>T,NM_000287.3:c.1047-76G>A,\N,\N,2/16,Benign,\N,intron_variant,7.547,0.034,1KG_AFR_AF,PEX6
717620,6:42941908:A>G,NM_000287.3:c.1047-84T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,9.141,0.001,1KG_EUR_AF,PEX6
717621,6:42941933:G>A,NM_000287.3:c.1047-109C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,10.87,0.002,1KG_SAS_AF,PEX6
717622,6:42941940:G>C,NM_000287.3:c.1047-116C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,9.727,0.0014,1KG_AMR_AF,PEX6
717623,6:42941947:C>T,NM_000287.3:c.1047-123G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.699,0.001,1KG_EAS_AF,PEX6
717624,6:42941948:G>A,NM_000287.3:c.1047-124C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.181,0.002,1KG_SAS_AF,PEX6
717625,6:42941985:T>C,NM_000287.3:c.1047-161A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.034,\N,\N,PEX6
717626,6:42942041:C>T,NM_000287.3:c.1047-217G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.577,\N,\N,PEX6
717627,6:42942050:G>C,NM_000287.3:c.1047-226C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,5.833,\N,\N,PEX6
717628,6:42942078:G>C,NM_000287.3:c.1047-254C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.443,\N,\N,PEX6
717629,6:42942078:G>T,NM_000287.3:c.1047-254C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.969,0.002,1KG_EAS_AF,PEX6
717630,6:42942089:T>C,NM_000287.3:c.1047-265A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.125,\N,\N,PEX6
717631,6:42942113:G>C,NM_000287.3:c.1047-289C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,6.589,0.0015,1KG_AFR_AF,PEX6
717632,6:42942130:T>A,NM_000287.3:c.1047-306A>T,\N,\N,2/16,Unknown significance,\N,intron_variant,12.83,0.0008,1KG_AFR_AF,PEX6
717633,6:42942166:A>C,NM_000287.3:c.1047-342T>G,\N,\N,2/16,Benign,\N,intron_variant,0.202,0.0061,1KG_AFR_AF,PEX6
717634,6:42942173:C>T,NM_000287.3:c.1047-349G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.365,\N,\N,PEX6
717635,6:42942180:GTTT>G,NM_000287.3:c.1047-359_1047-357del,\N,\N,2/16,Unknown significance,\N,intron_variant,4.894,\N,\N,PEX6
717636,6:42942181:T>TTTTTG,NM_000287.3:c.1047-358_1047-357insCAAAA,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717637,6:42942186:T>G,NM_000287.3:c.1047-362A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.902,\N,\N,PEX6
717638,6:42942187:TTG>T,NM_000287.3:c.1047-365_1047-364del,\N,\N,2/16,Unknown significance,\N,intron_variant,2.399,\N,\N,PEX6
717639,6:42942188:TG>T,NM_000287.3:c.1047-365del,\N,\N,2/16,Unknown significance,\N,intron_variant,2.466,\N,\N,PEX6
717640,6:42942189:G>GGT,NM_000287.3:c.1047-366_1047-365insAC,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717641,6:42942189:G>GT,NM_000287.3:c.1047-366dup,\N,\N,2/16,Unknown significance,\N,intron_variant,0.826,\N,\N,PEX6
717642,6:42942189:G>T,NM_000287.3:c.1047-365C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.615,\N,\N,PEX6
717643,6:42942194:T>G,NM_000287.3:c.1047-370A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.708,\N,\N,PEX6
717644,6:42942196:T>G,NM_000287.3:c.1047-372A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.708,\N,\N,PEX6
717645,6:42942197:T>G,NM_000287.3:c.1047-373A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.164,\N,\N,PEX6
717646,6:42942198:T>G,NM_000287.3:c.1047-374A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.113,0.003,1KG_EAS_AF,PEX6
717647,6:42942199:T>G,NM_000287.3:c.1047-375A>C,\N,\N,2/16,Benign,\N,intron_variant,0.676,0.0072,1KG_AMR_AF,PEX6
717648,6:42942202:T>G,NM_000287.3:c.1047-378A>C,\N,\N,2/16,Benign,\N,intron_variant,0.536,0.0388,1KG_EUR_AF,PEX6
717649,6:42942218:C>T,NM_000287.3:c.1047-394G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.568,\N,\N,PEX6
717650,6:42942223:T>G,NM_000287.3:c.1046+390A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.463,\N,\N,PEX6
717651,6:42942227:G>A,NM_000287.3:c.1046+386C>T,\N,\N,2/16,Benign,\N,intron_variant,1.257,0.0968,1KG_AFR_AF,PEX6
717652,6:42942235:G>A,NM_000287.3:c.1046+378C>T,\N,\N,2/16,Benign,\N,intron_variant,0.302,0.0091,1KG_AFR_AF,PEX6
717653,6:42942241:G>C,NM_000287.3:c.1046+372C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.715,\N,\N,PEX6
717654,6:42942244:A>G,NM_000287.3:c.1046+369T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.957,0.0031,1KG_SAS_AF,PEX6
717655,6:42942245:G>A,NM_000287.3:c.1046+368C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.965,\N,\N,PEX6
717656,6:42942247:G>C,NM_000287.3:c.1046+366C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.868,\N,\N,PEX6
717657,6:42942259:G>A,NM_000287.3:c.1046+354C>T,\N,\N,2/16,Benign,\N,intron_variant,0.579,0.0144,1KG_AFR_AF,PEX6
717658,6:42942264:C>G,NM_000287.3:c.1046+349G>C,\N,\N,2/16,Benign,\N,intron_variant,0.525,0.0278,1KG_EAS_AF,PEX6
717659,6:42942277:G>A,NM_000287.3:c.1046+336C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.684,0.0008,1KG_AFR_AF,PEX6
717660,6:42942284:C>T,NM_000287.3:c.1046+329G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.963,\N,\N,PEX6
717661,6:42942288:C>T,NM_000287.3:c.1046+325G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.53,\N,\N,PEX6
717662,6:42942296:C>T,NM_000287.3:c.1046+317G>A,\N,\N,2/16,Benign,\N,intron_variant,0.525,0.006,1KG_EAS_AF,PEX6
717663,6:42942308:G>A,NM_000287.3:c.1046+305C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.556,\N,\N,PEX6
717664,6:42942342:C>T,NM_000287.3:c.1046+271G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.434,\N,\N,PEX6
717665,6:42942344:C>T,NM_000287.3:c.1046+269G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.072,0.0008,1KG_AFR_AF,PEX6
717666,6:42942353:A>G,NM_000287.3:c.1046+260T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.235,0.0014,1KG_AMR_AF,PEX6
717667,6:42942356:C>T,NM_000287.3:c.1046+257G>A,\N,\N,2/16,Benign,\N,intron_variant,0.707,0.4018,1KG_EAS_AF,PEX6
717668,6:42942357:G>A,NM_000287.3:c.1046+256C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.047,0.003,1KG_EAS_AF,PEX6
717669,6:42942362:AT>A,NM_000287.3:c.1046+250del,\N,\N,2/16,Unknown significance,\N,intron_variant,0.874,\N,\N,PEX6
717670,6:42942389:C>T,NM_000287.3:c.1046+224G>A,\N,\N,2/16,Benign,\N,intron_variant,0.671,0.0098,1KG_AFR_AF,PEX6
717671,6:42942451:G>A,NM_000287.3:c.1046+162C>T,\N,\N,2/16,Benign,\N,intron_variant,0.206,0.795,1KG_AFR_AF,PEX6
717672,6:42942478:C>T,NM_000287.3:c.1046+135G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.681,0.0008,1KG_AFR_AF,PEX6
717673,6:42942481:G>T,NM_000287.3:c.1046+132C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.187,0.001,1KG_SAS_AF,PEX6
717674,6:42942498:C>T,NM_000287.3:c.1046+115G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.924,0.001,1KG_EAS_AF,PEX6
717675,6:42942511:T>A,NM_000287.3:c.1046+102A>T,\N,\N,2/16,Unknown significance,\N,intron_variant,9.003,\N,\N,PEX6
717676,6:42942537:T>C,NM_000287.3:c.1046+76A>G,\N,\N,2/16,Benign,\N,intron_variant,2.604,0.0106,1KG_AFR_AF,PEX6
717677,6:42942539:G>C,NM_000287.3:c.1046+74C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.696,\N,\N,PEX6
717678,6:42942562:G>A,NM_000287.3:c.1046+51C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.692,0.0000299697,EXAC_NFE_AF,PEX6
717679,6:42942574:G>T,NM_000287.3:c.1046+39C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.557,0.001,1KG_EAS_AF,PEX6
717680,6:42942575:G>A,NM_000287.3:c.1046+38C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.922,0.0000960984,EXAC_AFR_AF,PEX6
717681,6:42942583:C>T,NM_000287.3:c.1046+30G>A,\N,\N,2/16,Benign,\N,intron_variant,4.735,0.0211076,EVS_AA_AF,PEX6
717682,6:42942585:A>G,NM_000287.3:c.1046+28T>C,\N,\N,2/16,Benign,\N,intron_variant,5.562,0.0272,1KG_AFR_AF,PEX6
717683,6:42942587:C>G,NM_000287.3:c.1046+26G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.276,0.000181686,EXAC_SAS_AF,PEX6
717684,6:42942590:C>A,NM_000287.3:c.1046+23G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,6.075,0.000226963,EVS_AA_AF,PEX6
717685,6:42942594:A>G,NM_000287.3:c.1046+19T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.753,0.0000149844,EXAC_NFE_AF,PEX6
717686,6:42942598:G>A,NM_000287.3:c.1046+15C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,5.366,0.0000149849,EXAC_NFE_AF,PEX6
717687,6:42942605:T>C,NM_000287.3:c.1046+8A>G,\N,\N,2/16,Unknown significance,\N,splice_region_variant&intron_variant,9.982,0.000115554,EXAC_EAS_AF,PEX6
717688,6:42942606:A>G,NM_000287.3:c.1046+7T>C,\N,\N,2/16,Unknown significance,\N,splice_region_variant&intron_variant,10.33,0.000060562,EXAC_SAS_AF,PEX6
717689,6:42942628:T>TGCCG,NM_000287.3:c.1027_1030dup,NP_000278.3:p.His344ProfsTer42,2/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
717690,6:42942630:C>G,NM_000287.3:c.1029G>C,NP_000278.3:p.Arg343=,2/17,\N,Unknown significance,\N,synonymous_variant,12.51,0.000060562,EXAC_SAS_AF,PEX6
717691,6:42942631:C>A,NM_000287.3:c.1028G>T,NP_000278.3:p.Arg343Leu,2/17,\N,Likely benign,\N,missense_variant,23,0.000060562,EXAC_SAS_AF,PEX6
717692,6:42942631:C>T,NM_000287.3:c.1028G>A,NP_000278.3:p.Arg343Gln,2/17,\N,Benign,\N,missense_variant,21.5,0.0368057,EXAC_AFR_AF,PEX6
717693,6:42942634:T>C,NM_000287.3:c.1025A>G,NP_000278.3:p.Tyr342Cys,2/17,\N,Unknown significance,\N,missense_variant,22.8,0.000116279,EVS_EA_AF,PEX6
717694,6:42942635:A>G,NM_000287.3:c.1024T>C,NP_000278.3:p.Tyr342His,2/17,\N,Unknown significance,\N,missense_variant,19.59,0.000014984,EXAC_NFE_AF,PEX6
717695,6:42942640:A>G,NM_000287.3:c.1019T>C,NP_000278.3:p.Val340Ala,2/17,\N,Likely benign,\N,missense_variant,9.137,0.000014984,EXAC_NFE_AF,PEX6
717696,6:42942643:C>T,NM_000287.3:c.1016G>A,NP_000278.3:p.Gly339Asp,2/17,\N,Likely benign,\N,missense_variant,7.258,0.001,1KG_SAS_AF,PEX6
717697,6:42942644:C>T,NM_000287.3:c.1015G>A,NP_000278.3:p.Gly339Ser,2/17,\N,Likely benign,\N,missense_variant,10.45,0.000014984,EXAC_NFE_AF,PEX6
717698,6:42942645:G>A,NM_000287.3:c.1014C>T,NP_000278.3:p.Asp338=,2/17,\N,Unknown significance,\N,synonymous_variant,10.24,0.00158874,EVS_AA_AF,PEX6
717699,6:42942646:T>C,NM_000287.3:c.1013A>G,NP_000278.3:p.Asp338Gly,2/17,\N,Unknown significance,\N,missense_variant,22.1,0.001,1KG_EAS_AF|1KG_SAS_AF,PEX6
717700,6:42942652:T>C,NM_000287.3:c.1007A>G,NP_000278.3:p.Asn336Ser,2/17,\N,Likely benign,\N,missense_variant,5.238,0.000014984,EXAC_NFE_AF,PEX6
717701,6:42942665:T>C,NM_000287.3:c.994A>G,NP_000278.3:p.Ser332Gly,2/17,\N,Likely benign,\N,missense_variant,22.3,0.000192197,EXAC_AFR_AF,PEX6
717702,6:42942672:G>C,NM_000287.3:c.987C>G,NP_000278.3:p.Pro329=,2/17,\N,Unknown significance,\N,synonymous_variant,7.622,\N,\N,PEX6
717703,6:42942679:G>A,NM_000287.3:c.980C>T,NP_000278.3:p.Ser327Phe,2/17,\N,Unknown significance,\N,missense_variant,24.2,0.000060562,EXAC_SAS_AF,PEX6
717704,6:42942689:C>T,NM_000287.3:c.970G>A,NP_000278.3:p.Glu324Lys,2/17,\N,Unknown significance,\N,missense_variant,23.8,0.002,1KG_SAS_AF,PEX6
717705,6:42942689:CG>C,NM_000287.3:c.969del,NP_000278.3:p.Ile323MetfsTer28,2/17,\N,Unknown significance,\N,frameshift_variant,26,0.000014984,EXAC_NFE_AF,PEX6
717706,6:42942690:G>A,NM_000287.3:c.969C>T,NP_000278.3:p.Ile323=,2/17,\N,Benign,\N,synonymous_variant,14.89,0.0051,1KG_SAS_AF,PEX6
717707,6:42942692:T>C,NM_000287.3:c.967A>G,NP_000278.3:p.Ile323Val,2/17,\N,Unknown significance,\N,missense_variant,11.95,0.000060562,EXAC_SAS_AF,PEX6
717708,6:42942693:G>A,NM_000287.3:c.966C>T,NP_000278.3:p.His322=,2/17,\N,Unknown significance,\N,synonymous_variant,9.94,0.000014984,EXAC_NFE_AF,PEX6
717709,6:42942701:C>T,NM_000287.3:c.958G>A,NP_000278.3:p.Glu320Lys,2/17,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,PEX6
717710,6:42942706:G>A,NM_000287.3:c.953C>T,NP_000278.3:p.Ala318Val,2/17,\N,Unknown significance,\N,missense_variant,25.3,0.001,1KG_EUR_AF,PEX6
717711,6:42942711:T>C,NM_000287.3:c.948A>G,NP_000278.3:p.Pro316=,2/17,\N,Unknown significance,\N,synonymous_variant,9.224,0.000014984,EXAC_NFE_AF,PEX6
717712,6:42942718:C>T,NM_000287.3:c.941G>A,NP_000278.3:p.Gly314Glu,2/17,\N,Likely benign,\N,missense_variant,13.05,0.000014984,EXAC_NFE_AF,PEX6
717713,6:42942720:A>G,NM_000287.3:c.939T>C,NP_000278.3:p.Pro313=,2/17,\N,Unknown significance,\N,synonymous_variant,7.815,0.000453926,EVS_AA_AF,PEX6
717714,6:42942722:G>A,NM_000287.3:c.937C>T,NP_000278.3:p.Pro313Ser,2/17,\N,Likely benign,\N,missense_variant,13.29,0.0008,1KG_AFR_AF,PEX6
717715,6:42942726:C>T,NM_000287.3:c.933G>A,NP_000278.3:p.Leu311=,2/17,\N,Unknown significance,\N,synonymous_variant,13.46,0.000060562,EXAC_SAS_AF,PEX6
717716,6:42942734:A>C,NM_000287.3:c.925T>G,NP_000278.3:p.Cys309Gly,2/17,\N,Unknown significance,\N,missense_variant,16.99,0.0000449519,EXAC_NFE_AF,PEX6
717717,6:42942737:T>C,NM_000287.3:c.922A>G,NP_000278.3:p.Ser308Gly,2/17,\N,Unknown significance,\N,missense_variant,25.6,0.000115554,EXAC_EAS_AF,PEX6
717718,6:42942744:GT>G,NM_000287.3:c.914del,NP_000278.3:p.Asp305AlafsTer46,2/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,28.5,\N,\N,PEX6
717719,6:42942755:C>T,NM_000287.3:c.904G>A,NP_000278.3:p.Ala302Thr,2/17,\N,Likely benign,\N,missense_variant,11.22,0.000232558,EVS_EA_AF,PEX6
717720,6:42942756:G>A,NM_000287.3:c.903C>T,NP_000278.3:p.Ile301=,2/17,\N,Unknown significance,\N,synonymous_variant,13.68,0.0000863707,EXAC_AMR_AF,PEX6
717721,6:42942758:T>G,NM_000287.3:c.901A>C,NP_000278.3:p.Ile301Leu,2/17,\N,Likely benign,\N,missense_variant,6.494,\N,\N,PEX6
717722,6:42942760:G>A,NM_000287.3:c.899C>T,NP_000278.3:p.Ser300Phe,2/17,\N,Likely benign,\N,missense_variant,14.83,0.000462214,EXAC_EAS_AF,PEX6
717723,6:42942762:G>A,NM_000287.3:c.897C>T,NP_000278.3:p.Gly299=,2/17,\N,Unknown significance,\N,synonymous_variant,9.924,0.000115554,EXAC_EAS_AF,PEX6
717724,6:42942763:C>G,NM_000287.3:c.896G>C,NP_000278.3:p.Gly299Ala,2/17,\N,Unknown significance,\N,missense_variant,15.21,0.0000149844,EXAC_NFE_AF,PEX6
717725,6:42942763:C>A,NM_000287.3:c.896G>T,NP_000278.3:p.Gly299Val,2/17,\N,Unknown significance,\N,missense_variant,24.3,0.000151194,EXAC_FIN_AF,PEX6
717726,6:42942763:C>T,NM_000287.3:c.896G>A,NP_000278.3:p.Gly299Asp,2/17,\N,Unknown significance,\N,missense_variant,23.9,0.001,1KG_EUR_AF,PEX6
717727,6:42942768:C>T,NM_000287.3:c.891G>A,NP_000278.3:p.Leu297=,2/17,\N,Unknown significance,\N,synonymous_variant,12.66,0.000116279,EVS_EA_AF,PEX6
717728,6:42942775:C>T,NM_000287.3:c.884G>A,NP_000278.3:p.Arg295Lys,2/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.6,0.0000299688,EXAC_NFE_AF,PEX6
717729,6:42942778:T>C,NM_000287.3:c.883-2A>G,\N,\N,1/16,Pathogenic,Zellweger syndrome C,splice_acceptor_variant,25.3,\N,\N,PEX6
717730,6:42942779:A>G,NM_000287.3:c.883-3T>C,\N,\N,1/16,Benign,\N,splice_region_variant&intron_variant,13.13,0.4592,1KG_EUR_AF,PEX6
717731,6:42942784:A>G,NM_000287.3:c.883-8T>C,\N,\N,1/16,Unknown significance,\N,splice_region_variant&intron_variant,14.76,0.00005997,EXAC_NFE_AF,PEX6
717732,6:42942798:C>T,NM_000287.3:c.883-22G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,7.441,\N,\N,PEX6
717733,6:42942799:G>A,NM_000287.3:c.883-23C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.884,0.0000609533,EXAC_SAS_AF,PEX6
717734,6:42942801:T>C,NM_000287.3:c.883-25A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,6.462,0.0000609459,EXAC_SAS_AF,PEX6
717735,6:42942803:TA>T,NM_000287.3:c.883-28del,\N,\N,1/16,Benign,\N,intron_variant,10.05,0.1354,1KG_AFR_AF,PEX6
717736,6:42942809:T>C,NM_000287.3:c.883-33A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.968,0.0000150123,EXAC_NFE_AF,PEX6
717737,6:42942822:C>T,NM_000287.3:c.883-46G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,7.223,0.0000605987,EXAC_SAS_AF,PEX6
717738,6:42942825:G>C,NM_000287.3:c.883-49C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.942,0.0015,1KG_AFR_AF,PEX6
717739,6:42942826:C>A,NM_000287.3:c.883-50G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,6.887,0.000907853,EVS_AA_AF,PEX6
717740,6:42942919:A>G,NM_000287.3:c.883-143T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,2.638,\N,\N,PEX6
717741,6:42942942:G>A,NM_000287.3:c.883-166C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.919,\N,\N,PEX6
717742,6:42942958:A>T,NM_000287.3:c.883-182T>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.465,\N,\N,PEX6
717743,6:42942968:C>T,NM_000287.3:c.883-192G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,4.809,0.001,1KG_EAS_AF,PEX6
717744,6:42942974:C>T,NM_000287.3:c.883-198G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.126,0.0031,1KG_SAS_AF,PEX6
717745,6:42943006:G>A,NM_000287.3:c.883-230C>T,\N,\N,1/16,Benign,\N,intron_variant,5.642,0.2995,1KG_AFR_AF,PEX6
717746,6:42943039:A>G,NM_000287.3:c.883-263T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,1.778,0.0014,1KG_AMR_AF,PEX6
717747,6:42943072:A>G,NM_000287.3:c.883-296T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,6.386,0.0015,1KG_AFR_AF,PEX6
717748,6:42943098:T>C,NM_000287.3:c.883-322A>G,\N,\N,1/16,Benign,\N,intron_variant,1.091,0.4612,1KG_EUR_AF,PEX6
717749,6:42943114:T>C,NM_000287.3:c.883-338A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,1.168,0.0014,1KG_AMR_AF,PEX6
717750,6:42943123:C>A,NM_000287.3:c.883-347G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,4.587,0.001,1KG_EAS_AF,PEX6
717751,6:42943154:G>A,NM_000287.3:c.883-378C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,1.245,0.0008,1KG_AFR_AF,PEX6
717752,6:42943181:T>C,NM_000287.3:c.883-405A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.605,0.0008,1KG_AFR_AF,PEX6
717753,6:42943187:G>T,NM_000287.3:c.883-411C>A,\N,\N,1/16,Unknown significance,\N,intron_variant,1.047,0.0043,1KG_AMR_AF,PEX6
717754,6:42943205:CTT>C,NM_000287.3:c.883-431_883-430del,\N,\N,1/16,Unknown significance,\N,intron_variant,5.476,\N,\N,PEX6
717755,6:42943279:G>A,NM_000287.3:c.883-503C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,0.324,\N,\N,PEX6
717756,6:42943318:C>T,NM_000287.3:c.883-542G>A,\N,\N,1/16,Benign,\N,intron_variant,3.359,0.0076,1KG_AFR_AF,PEX6
717757,6:42943323:A>G,NM_000287.3:c.883-547T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,5.15,\N,\N,PEX6
717758,6:42943334:G>A,NM_000287.3:c.883-558C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.736,0.0014,1KG_AMR_AF,PEX6
717759,6:42943337:C>A,NM_000287.3:c.883-561G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,3.313,\N,\N,PEX6
717760,6:42943352:T>C,NM_000287.3:c.883-576A>G,\N,\N,1/16,Benign,\N,intron_variant,3.664,0.0113,1KG_AFR_AF,PEX6
717761,6:42943379:C>T,NM_000287.3:c.883-603G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.436,0.001,1KG_SAS_AF,PEX6
717762,6:42943381:C>A,NM_000287.3:c.883-605G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,5.988,0.0008,1KG_AFR_AF,PEX6
717763,6:42943387:A>G,NM_000287.3:c.883-611T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,5.41,0.0041,1KG_SAS_AF,PEX6
717764,6:42943399:A>C,NM_000287.3:c.883-623T>G,\N,\N,1/16,Unknown significance,\N,intron_variant,3.204,\N,\N,PEX6
717765,6:42943410:A>C,NM_000287.3:c.883-634T>G,\N,\N,1/16,Unknown significance,\N,intron_variant,1.067,\N,\N,PEX6
717766,6:42943411:C>T,NM_000287.3:c.883-635G>A,\N,\N,1/16,Benign,\N,intron_variant,2.521,0.0061,1KG_AFR_AF,PEX6
717767,6:42943455:T>G,NM_000287.3:c.883-679A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,0.385,\N,\N,PEX6
717768,6:42943466:T>G,NM_000287.3:c.883-690A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,4.579,\N,\N,PEX6
717769,6:42943468:A>T,NM_000287.3:c.883-692T>A,\N,\N,1/16,Benign,\N,intron_variant,2.652,0.034,1KG_AFR_AF,PEX6
717770,6:42943481:C>T,NM_000287.3:c.883-705G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,2.343,0.001,1KG_EUR_AF,PEX6
717771,6:42943487:C>T,NM_000287.3:c.883-711G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.73,0.0014,1KG_AMR_AF,PEX6
717772,6:42943488:G>A,NM_000287.3:c.883-712C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,0.549,\N,\N,PEX6
717773,6:42943491:C>A,NM_000287.3:c.883-715G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.534,\N,\N,PEX6
717774,6:42943550:A>G,NM_000287.3:c.883-774T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,0.579,0.001,1KG_SAS_AF,PEX6
717775,6:42943651:G>A,NM_000287.3:c.883-875C>T,\N,\N,1/16,Benign,\N,intron_variant,2.519,0.0109,1KG_EUR_AF,PEX6
717776,6:42943654:G>C,NM_000287.3:c.883-878C>G,\N,\N,1/16,Benign,\N,intron_variant,0.292,0.0209,1KG_EUR_AF,PEX6
717777,6:42943667:C>T,NM_000287.3:c.883-891G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.873,0.0023,1KG_AFR_AF,PEX6
717778,6:42943695:C>T,NM_000287.3:c.883-919G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,1.316,\N,\N,PEX6
717779,6:42943708:G>C,NM_000287.3:c.883-932C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.012,0.002,1KG_SAS_AF,PEX6
717780,6:42943712:C>T,NM_000287.3:c.883-936G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.439,0.001,1KG_SAS_AF,PEX6
717781,6:42943729:G>T,NM_000287.3:c.883-953C>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.069,0.001,1KG_SAS_AF,PEX6
717782,6:42943730:G>C,NM_000287.3:c.883-954C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.022,0.001,1KG_SAS_AF,PEX6
717783,6:42943764:C>T,NM_000287.3:c.883-988G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.677,0.0015,1KG_AFR_AF,PEX6
717784,6:42943777:C>A,NM_000287.3:c.883-1001G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.524,0.0008,1KG_AFR_AF,PEX6
717785,6:42943789:A>ATTT,NM_000287.3:c.883-1016_883-1014dup,\N,\N,1/16,Unknown significance,\N,intron_variant,0.046,\N,\N,PEX6
717786,6:42943832:G>A,NM_000287.3:c.883-1056C>T,\N,\N,1/16,Benign,\N,intron_variant,3.004,0.0053,1KG_AFR_AF,PEX6
717787,6:42943841:AG>A,NM_000287.3:c.883-1066del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717788,6:42943845:T>TTCACA,NM_000287.3:c.883-1070_883-1069insTGTGA,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717789,6:42943847:GTC>G,NM_000287.3:c.883-1073_883-1072del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717790,6:42943876:T>C,NM_000287.3:c.883-1100A>G,\N,\N,1/16,Benign,\N,intron_variant,0.186,0.2625,1KG_AFR_AF,PEX6
717791,6:42943893:G>A,NM_000287.3:c.883-1117C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,5.986,\N,\N,PEX6
717792,6:42943920:T>A,NM_000287.3:c.883-1144A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,1.033,0.001,1KG_EUR_AF,PEX6
717793,6:42943955:CTTACT>C,NM_000287.3:c.883-1184_883-1180del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717794,6:42943959:C>T,NM_000287.3:c.883-1183G>A,\N,\N,1/16,Benign,\N,intron_variant,2.366,0.0446,1KG_AFR_AF,PEX6
717795,6:42943977:A>G,NM_000287.3:c.883-1201T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,2.516,0.0015,1KG_AFR_AF,PEX6
717796,6:42943991:A>T,NM_000287.3:c.883-1215T>A,\N,\N,1/16,Benign,\N,intron_variant,0.732,0.005,1KG_EUR_AF,PEX6
717797,6:42943999:A>G,NM_000287.3:c.883-1223T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,10.52,0.001,1KG_EUR_AF,PEX6
717798,6:42944012:T>G,NM_000287.3:c.883-1236A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,13.66,\N,\N,PEX6
717799,6:42944014:G>C,NM_000287.3:c.883-1238C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,12.53,0.001,1KG_EUR_AF|1KG_SAS_AF,PEX6
717800,6:42944045:T>A,NM_000287.3:c.883-1269A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,11.06,\N,\N,PEX6
717801,6:42944067:C>T,NM_000287.3:c.883-1291G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,3.691,0.0014,1KG_AMR_AF,PEX6
717802,6:42944068:A>G,NM_000287.3:c.883-1292T>C,\N,\N,1/16,Benign,\N,intron_variant,2.988,0.0363,1KG_AFR_AF,PEX6
717803,6:42944073:A>G,NM_000287.3:c.883-1297T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,1.602,0.001,1KG_EAS_AF,PEX6
717804,6:42944111:CTTTTTT>C,NM_000287.3:c.883-1341_883-1336del,\N,\N,1/16,Unknown significance,\N,intron_variant,4.381,\N,\N,PEX6
717805,6:42944121:GAC>G,NM_000287.3:c.883-1347_883-1346del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,0.0031,1KG_SAS_AF,PEX6
717806,6:42944123:C>T,NM_000287.3:c.883-1347G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.834,0.001,1KG_EUR_AF,PEX6
717807,6:42944127:A>G,NM_000287.3:c.883-1351T>C,\N,\N,1/16,Benign,\N,intron_variant,2.257,0.795,1KG_AFR_AF,PEX6
717808,6:42944140:A>G,NM_000287.3:c.883-1364T>C,\N,\N,1/16,Benign,\N,intron_variant,0.417,0.7965,1KG_AFR_AF,PEX6
717809,6:42944231:G>A,NM_000287.3:c.883-1455C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.309,0.0008,1KG_AFR_AF,PEX6
717810,6:42944249:C>CA,NM_000287.3:c.883-1474dup,\N,\N,1/16,Unknown significance,\N,intron_variant,1.882,0.0043,1KG_AMR_AF,PEX6
717811,6:42944302:T>C,NM_000287.3:c.883-1526A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,1.056,0.001,1KG_EAS_AF|1KG_EUR_AF,PEX6
717812,6:42944307:G>A,NM_000287.3:c.883-1531C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,0.863,0.0008,1KG_AFR_AF,PEX6
717813,6:42944346:C>T,NM_000287.3:c.883-1570G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.815,\N,\N,PEX6
717814,6:42944359:C>A,NM_000287.3:c.883-1583G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,4.537,\N,\N,PEX6
717815,6:42944400:C>CT,NM_000287.3:c.882+1606dup,\N,\N,1/16,Unknown significance,\N,intron_variant,3.35,\N,\N,PEX6
717816,6:42944401:T>C,NM_000287.3:c.882+1606A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.731,0.001,1KG_SAS_AF,PEX6
717817,6:42944415:A>G,NM_000287.3:c.882+1592T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,6.41,0.001,1KG_EUR_AF,PEX6
717818,6:42944426:T>C,NM_000287.3:c.882+1581A>G,\N,\N,1/16,Benign,\N,intron_variant,10.31,0.0144,1KG_AFR_AF,PEX6
717819,6:42944446:T>C,NM_000287.3:c.882+1561A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,11.36,0.001,1KG_SAS_AF,PEX6
717820,6:42944459:G>A,NM_000287.3:c.882+1548C>T,\N,\N,1/16,Benign,\N,intron_variant,5.301,0.0227,1KG_AFR_AF,PEX6
717821,6:42944490:G>T,NM_000287.3:c.882+1517C>A,\N,\N,1/16,Unknown significance,\N,intron_variant,0.609,\N,\N,PEX6
717822,6:42944514:C>G,NM_000287.3:c.882+1493G>C,\N,\N,1/16,Unknown significance,\N,intron_variant,11.53,0.0008,1KG_AFR_AF,PEX6
717823,6:42944617:T>A,NM_000287.3:c.882+1390A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,13.42,0.001,1KG_EUR_AF,PEX6
717824,6:42944651:G>A,NM_000287.3:c.882+1356C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,15.48,0.0014,1KG_AMR_AF,PEX6
717825,6:42944711:T>C,NM_000287.3:c.882+1296A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,8.876,0.001,1KG_SAS_AF,PEX6
717826,6:42944720:C>T,NM_000287.3:c.882+1287G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,10.63,\N,\N,PEX6
717827,6:42944735:C>A,NM_000287.3:c.882+1272G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.905,\N,\N,PEX6
717828,6:42944741:T>A,NM_000287.3:c.882+1266A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,7.125,\N,\N,PEX6
717829,6:42944757:A>G,NM_000287.3:c.882+1250T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,3.589,0.0023,1KG_AFR_AF,PEX6
717830,6:42944771:G>A,NM_000287.3:c.882+1236C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,9.191,0.001,1KG_EAS_AF,PEX6
717831,6:42944773:T>C,NM_000287.3:c.882+1234A>G,\N,\N,1/16,Benign,\N,intron_variant,4.737,0.7943,1KG_AFR_AF,PEX6
717832,6:42944811:G>A,NM_000287.3:c.882+1196C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,0.726,0.003,1KG_AFR_AF,PEX6
717833,6:42944835:T>A,NM_000287.3:c.882+1172A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,8.371,0.0008,1KG_AFR_AF,PEX6
717834,6:42944850:C>T,NM_000287.3:c.882+1157G>A,\N,\N,1/16,Benign,\N,intron_variant,3.563,0.4939,1KG_AFR_AF,PEX6
717835,6:42944874:G>A,NM_000287.3:c.882+1133C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,2.674,\N,\N,PEX6
717836,6:42944937:A>T,NM_000287.3:c.882+1070T>A,\N,\N,1/16,Unknown significance,\N,intron_variant,2.821,\N,\N,PEX6
717837,6:42944940:C>T,NM_000287.3:c.882+1067G>A,\N,\N,1/16,Benign,\N,intron_variant,2.183,0.0378,1KG_AFR_AF,PEX6
717838,6:42944953:AGATT>A,NM_000287.3:c.882+1050_882+1053del,\N,\N,1/16,Benign,\N,intron_variant,4.518,0.0053,1KG_AFR_AF,PEX6
717839,6:42944954:G>A,NM_000287.3:c.882+1053C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,5.141,0.0038,1KG_AFR_AF,PEX6
717840,6:42944972:A>G,NM_000287.3:c.882+1035T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,3.329,0.0014,1KG_AMR_AF,PEX6
717841,6:42944987:C>CA,NM_000287.3:c.882+1019dup,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717842,6:42944987:CA>C,NM_000287.3:c.882+1019del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717843,6:42944988:A>AC,NM_000287.3:c.882+1018dup,\N,\N,1/16,Unknown significance,\N,intron_variant,2.565,\N,\N,PEX6
717844,6:42944988:A>ACCC,NM_000287.3:c.882+1018_882+1019insGGG,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717845,6:42944988:A>ACT,NM_000287.3:c.882+1017_882+1018dup,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717846,6:42944988:A>C,NM_000287.3:c.882+1019T>G,\N,\N,1/16,Benign,\N,intron_variant,5.135,0.8018,1KG_AFR_AF,PEX6
717847,6:42944989:C>CCT,NM_000287.3:c.882+1017_882+1018insAG,\N,\N,1/16,Benign,\N,intron_variant,6.251,0.8018,1KG_AFR_AF,PEX6
717848,6:42944990:T>C,NM_000287.3:c.882+1017A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,6.117,\N,\N,PEX6
717849,6:42945030:G>A,NM_000287.3:c.882+977C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,1.887,0.0014,1KG_AMR_AF,PEX6
717850,6:42945034:A>G,NM_000287.3:c.882+973T>C,\N,\N,1/16,Benign,\N,intron_variant,3.054,0.1759,1KG_SAS_AF,PEX6
717851,6:42945049:G>C,NM_000287.3:c.882+958C>G,\N,\N,1/16,Benign,\N,intron_variant,0.211,0.0164,1KG_SAS_AF,PEX6
717852,6:42945078:C>T,NM_000287.3:c.882+929G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,3.762,0.0014,1KG_AMR_AF,PEX6
717853,6:42945148:A>C,NM_000287.3:c.882+859T>G,\N,\N,1/16,Unknown significance,\N,intron_variant,1.204,0.001,1KG_EUR_AF,PEX6
717854,6:42945177:T>G,NM_000287.3:c.882+830A>C,\N,\N,1/16,Benign,\N,intron_variant,3.887,0.034,1KG_AFR_AF,PEX6
717855,6:42945187:T>C,NM_000287.3:c.882+820A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.616,0.0014,1KG_AMR_AF,PEX6
717856,6:42945203:A>C,NM_000287.3:c.882+804T>G,\N,\N,1/16,Unknown significance,\N,intron_variant,9.39,\N,\N,PEX6
717857,6:42945302:A>C,NM_000287.3:c.882+705T>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.852,0.001,1KG_EUR_AF,PEX6
717858,6:42945317:G>A,NM_000287.3:c.882+690C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,1.175,\N,\N,PEX6
717859,6:42945335:G>A,NM_000287.3:c.882+672C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,3.783,0.001,1KG_SAS_AF,PEX6
717860,6:42945345:C>T,NM_000287.3:c.882+662G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.212,0.0014,1KG_AMR_AF,PEX6
717861,6:42945386:C>T,NM_000287.3:c.882+621G>A,\N,\N,1/16,Benign,\N,intron_variant,3.785,0.0908,1KG_AFR_AF,PEX6
717862,6:42945388:C>T,NM_000287.3:c.882+619G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,1.255,0.001,1KG_SAS_AF,PEX6
717863,6:42945414:G>A,NM_000287.3:c.882+593C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,3.948,\N,\N,PEX6
717864,6:42945449:G>C,NM_000287.3:c.882+558C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,0.806,0.0008,1KG_AFR_AF,PEX6
717865,6:42945490:G>T,NM_000287.3:c.882+517C>A,\N,\N,1/16,Benign,\N,intron_variant,0.893,0.0076,1KG_AFR_AF,PEX6
717866,6:42945505:TCA>T,NM_000287.3:c.882+500_882+501del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717867,6:42945505:TCAAAAAAAAAAAA>T,NM_000287.3:c.882+489_882+501del,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717868,6:42945506:CAA>C,NM_000287.3:c.882+499_882+500del,\N,\N,1/16,Unknown significance,\N,intron_variant,8.034,\N,\N,PEX6
717869,6:42945506:CAAA>C,NM_000287.3:c.882+498_882+500del,\N,\N,1/16,Unknown significance,\N,intron_variant,8.352,\N,\N,PEX6
717870,6:42945506:CAAAAAAAAAAAAA>C,NM_000287.3:c.882+488_882+500del,\N,\N,1/16,Unknown significance,\N,intron_variant,11.73,\N,\N,PEX6
717871,6:42945526:A>G,NM_000287.3:c.882+481T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,8.168,\N,\N,PEX6
717872,6:42945533:G>C,NM_000287.3:c.882+474C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,7.006,\N,\N,PEX6
717873,6:42945580:CT>C,NM_000287.3:c.882+426del,\N,\N,1/16,Unknown significance,\N,intron_variant,6.543,\N,\N,PEX6
717874,6:42945582:T>TTG,NM_000287.3:c.882+424_882+425insCA,\N,\N,1/16,Unknown significance,\N,intron_variant,2.581,\N,\N,PEX6
717875,6:42945583:T>TG,NM_000287.3:c.882+423_882+424insC,\N,\N,1/16,Unknown significance,\N,intron_variant,2.309,\N,\N,PEX6
717876,6:42945584:T>G,NM_000287.3:c.882+423A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,3.908,\N,\N,PEX6
717877,6:42945585:T>G,NM_000287.3:c.882+422A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,3.848,\N,\N,PEX6
717878,6:42945652:G>C,NM_000287.3:c.882+355C>G,\N,\N,1/16,Benign,\N,intron_variant,1.322,0.0245,1KG_AMR_AF,PEX6
717879,6:42945658:C>G,NM_000287.3:c.882+349G>C,\N,\N,1/16,Unknown significance,\N,intron_variant,7.05,\N,\N,PEX6
717880,6:42945715:G>A,NM_000287.3:c.882+292C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,4.57,0.0008,1KG_AFR_AF,PEX6
717881,6:42945719:T>G,NM_000287.3:c.882+288A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,4.896,\N,\N,PEX6
717882,6:42945756:T>A,NM_000287.3:c.882+251A>T,\N,\N,1/16,Benign,\N,intron_variant,2.982,0.034,1KG_AFR_AF,PEX6
717883,6:42945813:C>T,NM_000287.3:c.882+194G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.775,\N,\N,PEX6
717884,6:42945858:C>CA,NM_000287.3:c.882+148dup,\N,\N,1/16,Unknown significance,\N,intron_variant,\N,\N,\N,PEX6
717885,6:42945868:T>A,NM_000287.3:c.882+139A>T,\N,\N,1/16,Unknown significance,\N,intron_variant,4.181,\N,\N,PEX6
717886,6:42945878:C>T,NM_000287.3:c.882+129G>A,\N,\N,1/16,Benign,\N,intron_variant,3.817,0.2292,1KG_AFR_AF,PEX6
717887,6:42945889:A>T,NM_000287.3:c.882+118T>A,\N,\N,1/16,Unknown significance,\N,intron_variant,1.778,0.0023,1KG_AFR_AF,PEX6
717888,6:42945890:T>C,NM_000287.3:c.882+117A>G,\N,\N,1/16,Unknown significance,\N,intron_variant,4.201,0.0014,1KG_AMR_AF,PEX6
717889,6:42945921:C>G,NM_000287.3:c.882+86G>C,\N,\N,1/16,Benign,\N,intron_variant,5.799,0.1759,1KG_SAS_AF,PEX6
717890,6:42945959:A>G,NM_000287.3:c.882+48T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,4.029,0.0000151158,EXAC_NFE_AF,PEX6
717891,6:42945960:G>A,NM_000287.3:c.882+47C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,6.206,0.001,1KG_SAS_AF,PEX6
717892,6:42945960:G>C,NM_000287.3:c.882+47C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,3.149,0.000518672,EXAC_AMR_AF,PEX6
717893,6:42945963:T>TATA,NM_000287.3:c.882+41_882+43dup,\N,\N,1/16,Unknown significance,\N,intron_variant,5.757,\N,\N,PEX6
717894,6:42945965:TAAGA>T,NM_000287.3:c.882+38_882+41del,\N,\N,1/16,Unknown significance,\N,intron_variant,11.17,\N,\N,PEX6
717895,6:42945968:G>C,NM_000287.3:c.882+39C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,5.274,0.00127344,EXAC_EAS_AF,PEX6
717896,6:42945973:A>G,NM_000287.3:c.882+34T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,8.121,0.000307062,EXAC_AFR_AF,PEX6
717897,6:42945978:G>T,NM_000287.3:c.882+29C>A,\N,\N,1/16,Unknown significance,\N,intron_variant,10.38,0.000116279,EVS_EA_AF,PEX6
717898,6:42945979:C>G,NM_000287.3:c.882+28G>C,\N,\N,1/16,Unknown significance,\N,intron_variant,12.72,0.000101937,EXAC_AFR_AF,PEX6
717899,6:42945979:C>T,NM_000287.3:c.882+28G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,13.71,0.0000150861,EXAC_NFE_AF,PEX6
717900,6:42945990:CCA>C,NM_000287.3:c.882+15_882+16del,\N,\N,1/16,Benign,\N,intron_variant,17.9,0.00523455,EXAC_AFR_AF,PEX6
717901,6:42945991:CA>C,NM_000287.3:c.882+15del,\N,\N,1/16,Unknown significance,\N,intron_variant,17.79,0.000015067,EXAC_NFE_AF,PEX6
717902,6:42945996:C>T,NM_000287.3:c.882+11G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,17.32,0.000115768,EXAC_EAS_AF,PEX6
717903,6:42945999:T>C,NM_000287.3:c.882+8A>G,\N,\N,1/16,Unknown significance,\N,splice_region_variant&intron_variant,11.72,0.000226963,EVS_AA_AF,PEX6
717904,6:42946000:A>C,NM_000287.3:c.882+7T>G,\N,\N,1/16,Unknown significance,\N,splice_region_variant&intron_variant,12.09,0.0000150593,EXAC_NFE_AF,PEX6
717905,6:42946003:C>A,NM_000287.3:c.882+4G>T,\N,\N,1/16,Unknown significance,\N,splice_region_variant&intron_variant,15.94,\N,\N,PEX6
717906,6:42946006:C>T,NM_000287.3:c.882+1G>A,\N,\N,1/16,Pathogenic,Peroxisome biogenesis disorder,splice_donor_variant,25.9,\N,\N,PEX6
717907,6:42946009:G>A,NM_000287.3:c.880C>T,NP_000278.3:p.Gln294Ter,1/17,\N,Unknown significance,\N,stop_gained&splice_region_variant,37,0.0000150489,EXAC_NFE_AF,PEX6
717908,6:42946016:G>A,NM_000287.3:c.873C>T,NP_000278.3:p.Leu291=,1/17,\N,Unknown significance,\N,synonymous_variant,10.66,0.0000979816,EXAC_AFR_AF,PEX6
717909,6:42946019:C>G,NM_000287.3:c.870G>C,NP_000278.3:p.Glu290Asp,1/17,\N,Unknown significance,\N,missense_variant,20.8,0.000232558,EVS_EA_AF,PEX6
717910,6:42946021:C>G,NM_000287.3:c.868G>C,NP_000278.3:p.Glu290Gln,1/17,\N,Unknown significance,\N,missense_variant,20.7,0.0000150367,EXAC_NFE_AF,PEX6
717911,6:42946021:CT>C,NM_000287.3:c.867del,NP_000278.3:p.Glu290SerfsTer61,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,26.1,\N,\N,PEX6
717912,6:42946022:T>TC,NM_000287.3:c.866dup,NP_000278.3:p.Glu290ArgfsTer15,1/17,\N,Unknown significance,\N,frameshift_variant,35,0.000060562,EXAC_SAS_AF,PEX6
717913,6:42946032:AG>A,NM_000287.3:c.856del,NP_000278.3:p.Leu286TrpfsTer65,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,24.6,0.0000150281,EXAC_NFE_AF,PEX6
717914,6:42946034:G>T,NM_000287.3:c.855C>A,NP_000278.3:p.Pro285=,1/17,\N,Unknown significance,\N,synonymous_variant,5.521,\N,\N,PEX6
717915,6:42946036:G>C,NM_000287.3:c.853C>G,NP_000278.3:p.Pro285Ala,1/17,\N,Benign,\N,missense_variant,21.9,0.00509675,EXAC_AMR_AF,PEX6
717916,6:42946043:GC>G,NM_000287.3:c.845del,NP_000278.3:p.Gly282AlafsTer69,1/17,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,PEX6
717917,6:42946046:A>G,NM_000287.3:c.843T>C,NP_000278.3:p.Leu281=,1/17,\N,Unknown significance,\N,synonymous_variant,5.031,0.000193125,EXAC_AFR_AF,PEX6
717918,6:42946048:G>A,NM_000287.3:c.841C>T,NP_000278.3:p.Leu281Phe,1/17,\N,Unknown significance,\N,missense_variant,26.8,0.000115687,EXAC_EAS_AF,PEX6
717919,6:42946050:T>C,NM_000287.3:c.839A>G,NP_000278.3:p.Asn280Ser,1/17,\N,Unknown significance,\N,missense_variant,24.8,0.0000863856,EXAC_AMR_AF,PEX6
717920,6:42946050:T>G,NM_000287.3:c.839A>C,NP_000278.3:p.Asn280Thr,1/17,\N,Unknown significance,\N,missense_variant,24.4,0.0000300111,EXAC_NFE_AF,PEX6
717921,6:42946055:A>T,NM_000287.3:c.834T>A,NP_000278.3:p.Ala278=,1/17,\N,Unknown significance,\N,synonymous_variant,0.332,0.001,1KG_EAS_AF,PEX6
717922,6:42946057:C>T,NM_000287.3:c.832G>A,NP_000278.3:p.Ala278Thr,1/17,\N,Likely benign,\N,missense_variant,24.8,0.000116279,EVS_EA_AF,PEX6
717923,6:42946058:C>T,NM_000287.3:c.831G>A,NP_000278.3:p.Leu277=,1/17,\N,Unknown significance,\N,synonymous_variant,13.23,0.000060562,EXAC_SAS_AF,PEX6
717924,6:42946068:G>A,NM_000287.3:c.821C>T,NP_000278.3:p.Pro274Leu,1/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,24,0.0000300048,EXAC_NFE_AF,PEX6
717925,6:42946070:G>C,NM_000287.3:c.819C>G,NP_000278.3:p.Val273=,1/17,\N,Unknown significance,\N,synonymous_variant,6.17,0.0000963206,EXAC_AFR_AF,PEX6
717926,6:42946070:G>T,NM_000287.3:c.819C>A,NP_000278.3:p.Val273=,1/17,\N,Unknown significance,\N,synonymous_variant,7.439,\N,\N,PEX6
717927,6:42946071:A>ACAAG,NM_000287.3:c.814_817dup,NP_000278.3:p.Val273AlafsTer9,1/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,31,\N,\N,PEX6
717928,6:42946073:AAGCGCCAGTCCGTC>A,NM_000287.3:c.802_815del,NP_000278.3:p.Asp268CysfsTer8,1/17,\N,Pathogenic,Neonatal adrenoleukodystrophy,frameshift_variant,35,\N,\N,PEX6
717929,6:42946074:A>ACAAG,NM_000287.3:c.814_815insCTTG,NP_000278.3:p.Leu272ProfsTer10,1/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
717930,6:42946076:C>A,NM_000287.3:c.813G>T,NP_000278.3:p.Ala271=,1/17,\N,Benign,\N,synonymous_variant,22.4,0.0227,1KG_AFR_AF,PEX6
717931,6:42946082:T>C,NM_000287.3:c.807A>G,NP_000278.3:p.Gly269=,1/17,\N,Unknown significance,\N,synonymous_variant,6.191,0.00110132,EXAC_OTH_AF,PEX6
717932,6:42946085:G>A,NM_000287.3:c.804C>T,NP_000278.3:p.Asp268=,1/17,\N,Unknown significance,\N,synonymous_variant,11.83,0.0000150011,EXAC_NFE_AF,PEX6
717933,6:42946089:G>T,NM_000287.3:c.800C>A,NP_000278.3:p.Ala267Asp,1/17,\N,Likely benign,\N,missense_variant,23.3,0.0000149997,EXAC_NFE_AF,PEX6
717934,6:42946091:G>A,NM_000287.3:c.798C>T,NP_000278.3:p.Leu266=,1/17,\N,Unknown significance,\N,synonymous_variant,13.67,0.001,1KG_EUR_AF,PEX6
717935,6:42946094:G>C,NM_000287.3:c.795C>G,NP_000278.3:p.Pro265=,1/17,\N,Unknown significance,\N,synonymous_variant,8.425,0.001,1KG_EUR_AF,PEX6
717936,6:42946106:C>A,NM_000287.3:c.783G>T,NP_000278.3:p.Pro261=,1/17,\N,Unknown significance,\N,synonymous_variant,21.6,0.0000299994,EXAC_NFE_AF,PEX6
717937,6:42946107:G>A,NM_000287.3:c.782C>T,NP_000278.3:p.Pro261Leu,1/17,\N,Likely benign,\N,missense_variant,14.28,0.0000963206,EXAC_AFR_AF,PEX6
717938,6:42946108:G>A,NM_000287.3:c.781C>T,NP_000278.3:p.Pro261Ser,1/17,\N,Likely benign,\N,missense_variant,7.317,0.0000600042,EXAC_NFE_AF,PEX6
717939,6:42946113:G>A,NM_000287.3:c.776C>T,NP_000278.3:p.Ser259Phe,1/17,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,PEX6
717940,6:42946127:T>C,NM_000287.3:c.762A>G,NP_000278.3:p.Arg254=,1/17,\N,Unknown significance,\N,synonymous_variant,2.898,0.000096302,EXAC_AFR_AF,PEX6
717941,6:42946130:A>G,NM_000287.3:c.759T>C,NP_000278.3:p.Asp253=,1/17,\N,Unknown significance,\N,synonymous_variant,1.768,0.001,1KG_EAS_AF,PEX6
717942,6:42946135:A>T,NM_000287.3:c.754T>A,NP_000278.3:p.Ser252Thr,1/17,\N,Likely benign,\N,missense_variant,6.001,0.0000864603,EXAC_AMR_AF,PEX6
717943,6:42946138:G>A,NM_000287.3:c.751C>T,NP_000278.3:p.Leu251Phe,1/17,\N,Unknown significance,\N,missense_variant,18.08,0.000045018,EXAC_NFE_AF,PEX6
717944,6:42946138:G>C,NM_000287.3:c.751C>G,NP_000278.3:p.Leu251Val,1/17,\N,Unknown significance,\N,missense_variant,15.76,0.000172921,EXAC_AMR_AF,PEX6
717945,6:42946146:C>A,NM_000287.3:c.743G>T,NP_000278.3:p.Arg248Leu,1/17,\N,Likely benign,\N,missense_variant,24.6,0.0000864603,EXAC_AMR_AF,PEX6
717946,6:42946146:C>T,NM_000287.3:c.743G>A,NP_000278.3:p.Arg248His,1/17,\N,Likely benign,\N,missense_variant,22.9,\N,\N,PEX6
717947,6:42946149:G>C,NM_000287.3:c.740C>G,NP_000278.3:p.Pro247Arg,1/17,\N,Unknown significance,\N,missense_variant,22.6,0.000105051,EXAC_NFE_AF,PEX6
717948,6:42946154:T>C,NM_000287.3:c.735A>G,NP_000278.3:p.Leu245=,1/17,\N,Unknown significance,\N,synonymous_variant,6.718,0.000121168,EXAC_SAS_AF,PEX6
717949,6:42946157:G>T,NM_000287.3:c.732C>A,NP_000278.3:p.Val244=,1/17,\N,Unknown significance,\N,synonymous_variant,8.499,0.000060584,EXAC_SAS_AF,PEX6
717950,6:42946158:A>G,NM_000287.3:c.731T>C,NP_000278.3:p.Val244Ala,1/17,\N,Likely benign,\N,missense_variant,13.42,0.0000963577,EXAC_AFR_AF,PEX6
717951,6:42946161:T>C,NM_000287.3:c.728A>G,NP_000278.3:p.Gln243Arg,1/17,\N,Likely benign,\N,missense_variant,11.17,0.000116279,EVS_EA_AF,PEX6
717952,6:42946162:G>A,NM_000287.3:c.727C>T,NP_000278.3:p.Gln243Ter,1/17,\N,Pathogenic,Zellweger syndrome C,stop_gained,36,\N,\N,PEX6
717953,6:42946165:C>T,NM_000287.3:c.724G>A,NP_000278.3:p.Val242Met,1/17,\N,Likely benign,\N,missense_variant,13.62,0.000226963,EVS_AA_AF,PEX6
717954,6:42946170:G>A,NM_000287.3:c.719C>T,NP_000278.3:p.Ala240Val,1/17,\N,Likely benign,\N,missense_variant,10.59,0.000015015,EXAC_NFE_AF,PEX6
717955,6:42946170:G>C,NM_000287.3:c.719C>G,NP_000278.3:p.Ala240Gly,1/17,\N,Unknown significance,\N,missense_variant,8.982,0.000226963,EVS_AA_AF,PEX6
717956,6:42946181:C>T,NM_000287.3:c.708G>A,NP_000278.3:p.Gln236=,1/17,\N,Unknown significance,\N,synonymous_variant,4.711,0.0000150191,EXAC_NFE_AF,PEX6
717957,6:42946183:G>A,NM_000287.3:c.706C>T,NP_000278.3:p.Gln236Ter,1/17,\N,Unknown significance,\N,stop_gained,33,\N,\N,PEX6
717958,6:42946186:A>G,NM_000287.3:c.703T>C,NP_000278.3:p.Ser235Pro,1/17,\N,Likely benign,\N,missense_variant,1.144,\N,\N,PEX6
717959,6:42946192:T>G,NM_000287.3:c.697A>C,NP_000278.3:p.Asn233His,1/17,\N,Likely benign,\N,missense_variant,0.04,0.0008,1KG_AFR_AF,PEX6
717960,6:42946194:G>A,NM_000287.3:c.695C>T,NP_000278.3:p.Ser232Leu,1/17,\N,Likely benign,\N,missense_variant,20.9,0.00111111,EXAC_OTH_AF,PEX6
717961,6:42946197:G>GCT,NM_000287.3:c.691_692insAG,NP_000278.3:p.Ser231Ter,1/17,\N,Pathogenic,Peroxisome biogenesis disorder 4A,stop_gained&frameshift_variant,\N,\N,\N,PEX6
717962,6:42946198:A>ACT,NM_000287.3:c.689_690dup,NP_000278.3:p.Ser232HisfsTer15,1/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,22.6,\N,\N,PEX6
717963,6:42946198:ACT>A,NM_000287.3:c.689_690del,NP_000278.3:p.Glu230ValfsTer11,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,23.4,\N,\N,PEX6
717964,6:42946199:C>CCT,NM_000287.3:c.689_690insAG,NP_000278.3:p.Ser231GlyfsTer16,1/17,\N,Pathogenic,\N,frameshift_variant,\N,\N,\N,PEX6
717965,6:42946199:C>T,NM_000287.3:c.690G>A,NP_000278.3:p.Glu230=,1/17,\N,Unknown significance,\N,synonymous_variant,8.798,0.000116279,EVS_EA_AF,PEX6
717966,6:42946203:C>CCT,NM_000287.3:c.685_686insAG,NP_000278.3:p.Arg229LysfsTer18,1/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
717967,6:42946204:T>C,NM_000287.3:c.685A>G,NP_000278.3:p.Arg229Gly,1/17,\N,Benign,\N,missense_variant,0.325,0.00703586,EVS_AA_AF,PEX6
717968,6:42946209:T>C,NM_000287.3:c.680A>G,NP_000278.3:p.Gln227Arg,1/17,\N,Likely benign,\N,missense_variant,0.038,0.0000602192,EXAC_NFE_AF,PEX6
717969,6:42946228:C>A,NM_000287.3:c.661G>T,NP_000278.3:p.Glu221Ter,1/17,\N,Likely pathogenic,\N,stop_gained,38,\N,\N,PEX6
717970,6:42946230:C>A,NM_000287.3:c.659G>T,NP_000278.3:p.Gly220Val,1/17,\N,Pathogenic,Zellweger syndrome,missense_variant,29.4,\N,\N,PEX6
717971,6:42946232:C>T,NM_000287.3:c.657G>A,NP_000278.3:p.Gln219=,1/17,\N,Unknown significance,\N,synonymous_variant,12.46,0.0031,1KG_SAS_AF,PEX6
717972,6:42946232:CT>C,NM_000287.3:c.656del,NP_000278.3:p.Gln219ArgfsTer27,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,31,\N,\N,PEX6
717973,6:42946233:T>G,NM_000287.3:c.656A>C,NP_000278.3:p.Gln219Pro,1/17,\N,Pathogenic,Zellweger syndrome,missense_variant,26.2,\N,\N,PEX6
717974,6:42946240:G>C,NM_000287.3:c.649C>G,NP_000278.3:p.Leu217Val,1/17,\N,Unknown significance,\N,missense_variant,17.24,0.000116117,EXAC_EAS_AF,PEX6
717975,6:42946251:C>CG,NM_000287.3:c.637dup,NP_000278.3:p.Arg213ProfsTer29,1/17,\N,Unknown significance,\N,frameshift_variant,34,0.0000456149,EXAC_NFE_AF,PEX6
717976,6:42946253:G>C,NM_000287.3:c.636C>G,NP_000278.3:p.Leu212=,1/17,\N,Unknown significance,\N,synonymous_variant,3.172,0.0000152161,EXAC_NFE_AF,PEX6
717977,6:42946254:A>T,NM_000287.3:c.635T>A,NP_000278.3:p.Leu212His,1/17,\N,Unknown significance,\N,missense_variant,27,0.000232721,EXAC_EAS_AF,PEX6
717978,6:42946264:G>A,NM_000287.3:c.625C>T,NP_000278.3:p.Arg209Trp,1/17,\N,Unknown significance,\N,missense_variant,33,0.0000608421,EXAC_SAS_AF,PEX6
717979,6:42946265:G>A,NM_000287.3:c.624C>T,NP_000278.3:p.Ser208=,1/17,\N,Unknown significance,\N,synonymous_variant,11.5,0.000116713,EXAC_EAS_AF,PEX6
717980,6:42946268:C>T,NM_000287.3:c.621G>A,NP_000278.3:p.Val207=,1/17,\N,Unknown significance,\N,synonymous_variant,13.31,0.000174429,EXAC_AMR_AF,PEX6
717981,6:42946270:C>A,NM_001316313.1:c.618+1G>T,\N,\N,1/16,Unknown significance,\N,splice_donor_variant,22.6,0.001,1KG_EAS_AF,PEX6
717982,6:42946271:C>T,NM_000287.3:c.618G>A,NP_000278.3:p.Gly206=,1/17,\N,Unknown significance,\N,synonymous_variant,13.88,0.0008,1KG_AFR_AF,PEX6
717983,6:42946272:C>T,NM_000287.3:c.617G>A,NP_000278.3:p.Gly206Glu,1/17,\N,Likely benign,\N,missense_variant,24.1,0.000232558,EVS_EA_AF,PEX6
717984,6:42946278:G>C,NM_000287.3:c.611C>G,NP_000278.3:p.Ser204Ter,1/17,\N,Pathogenic,Zellweger syndrome,stop_gained,38,0.0000154064,EXAC_NFE_AF,PEX6
717985,6:42946282:C>T,NM_000287.3:c.607G>A,NP_000278.3:p.Asp203Asn,1/17,\N,Unknown significance,\N,missense_variant,24.6,0.0000610575,EXAC_SAS_AF,PEX6
717986,6:42946283:T>A,NM_000287.3:c.606A>T,NP_000278.3:p.Gly202=,1/17,\N,Unknown significance,\N,synonymous_variant,8.266,0.000226963,EVS_AA_AF,PEX6
717987,6:42946286:A>C,NM_000287.3:c.603T>G,NP_000278.3:p.Thr201=,1/17,\N,Unknown significance,\N,synonymous_variant,1.85,0.0000155545,EXAC_NFE_AF,PEX6
717988,6:42946295:C>T,NM_000287.3:c.594G>A,NP_000278.3:p.Leu198=,1/17,\N,Unknown significance,\N,synonymous_variant,13.12,0.0000614553,EXAC_SAS_AF,PEX6
717989,6:42946325:A>C,NM_000287.3:c.564T>G,NP_000278.3:p.Ser188=,1/17,\N,Unknown significance,\N,synonymous_variant,1.8,0.0008,1KG_AFR_AF,PEX6
717990,6:42946332:G>A,NM_000287.3:c.557C>T,NP_000278.3:p.Ala186Val,1/17,\N,Unknown significance,\N,missense_variant,32,0.0000381956,EXAC_NFE_AF,PEX6
717991,6:42946332:G>T,NM_000287.3:c.557C>A,NP_000278.3:p.Ala186Glu,1/17,\N,Pathogenic,Zellweger syndrome,missense_variant,31,0.0000190978,EXAC_NFE_AF,PEX6
717992,6:42946346:C>T,NM_000287.3:c.543G>A,NP_000278.3:p.Val181=,1/17,\N,Unknown significance,\N,synonymous_variant,13.11,0.000909504,EVS_AA_AF,PEX6
717993,6:42946348:C>T,NM_000287.3:c.541G>A,NP_000278.3:p.Val181Met,1/17,\N,Likely benign,\N,missense_variant,17.25,0.00102796,EXAC_EAS_AF,PEX6
717994,6:42946358:TG>T,NM_000287.3:c.530del,NP_000278.3:p.Pro177HisfsTer29,1/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,24.3,\N,\N,PEX6
717995,6:42946363:G>A,NM_000287.3:c.526C>T,NP_000278.3:p.Pro176Ser,1/17,\N,Likely benign,\N,missense_variant,17.66,0.000037048,EXAC_NFE_AF,PEX6
717996,6:42946371:CT>C,NM_000287.3:c.517del,NP_000278.3:p.Ser173AlafsTer33,1/17,\N,Pathogenic,Peroxisome biogenesis disorder,frameshift_variant,0.364,\N,\N,PEX6
717997,6:42946376:C>T,NM_000287.3:c.513G>A,NP_000278.3:p.Gly171=,1/17,\N,Unknown significance,\N,synonymous_variant,9.554,0.000194439,EXAC_SAS_AF,PEX6
717998,6:42946377:CCA>C,NM_000287.3:c.510_511del,NP_000278.3:p.Asp172GlnfsTer69,1/17,\N,Unknown significance,\N,frameshift_variant,22.5,0.000376223,EXAC_AMR_AF,PEX6
717999,6:42946378:C>CA,NM_000287.3:c.510dup,NP_000278.3:p.Gly171TrpfsTer71,1/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,21.6,\N,\N,PEX6
718000,6:42946378:C>CCA,NM_000287.3:c.510_511insTG,NP_000278.3:p.Gly171TrpfsTer36,1/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
718001,6:42946386:G>A,NM_000287.3:c.503C>T,NP_000278.3:p.Pro168Leu,1/17,\N,Likely benign,\N,missense_variant,2.223,0.002,1KG_EUR_AF,PEX6
718002,6:42946387:GAC>G,NM_000287.3:c.500_501del,NP_000278.3:p.Cys167SerfsTer74,1/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PEX6
718003,6:42946399:C>T,NM_000287.3:c.490G>A,NP_000278.3:p.Ala164Thr,1/17,\N,Likely benign,\N,missense_variant,0.007,\N,\N,PEX6
718004,6:42946401:C>G,NM_000287.3:c.488G>C,NP_000278.3:p.Arg163Pro,1/17,\N,Likely pathogenic,Tetralogy of Fallot,missense_variant,24.5,0.00130548,EXAC_FIN_AF,PEX6
718005,6:42946402:G>C,NM_000287.3:c.487C>G,NP_000278.3:p.Arg163Gly,1/17,\N,Unknown significance,\N,missense_variant,16.46,0.000113045,EXAC_SAS_AF,PEX6
718006,6:42946406:G>A,NM_000287.3:c.483C>T,NP_000278.3:p.Arg161=,1/17,\N,Unknown significance,\N,synonymous_variant,12.18,0.000792393,EXAC_AFR_AF,PEX6
718007,6:42946420:C>T,NM_000287.3:c.469G>A,NP_000278.3:p.Val157Met,1/17,\N,Likely benign,\N,missense_variant,23.7,\N,\N,PEX6
718008,6:42946429:G>C,NM_000287.3:c.460C>G,NP_000278.3:p.Arg154Gly,1/17,\N,Unknown significance,\N,missense_variant,25.3,0.000133726,EXAC_NFE_AF,PEX6
718009,6:42946451:T>C,NM_000287.3:c.438A>G,NP_000278.3:p.Gln146=,1/17,\N,Unknown significance,\N,synonymous_variant,0.003,\N,\N,PEX6
718010,6:42946474:G>A,NM_000287.3:c.415C>T,NP_000278.3:p.Leu139=,1/17,\N,Unknown significance,\N,synonymous_variant,0.297,0.000132205,EXAC_SAS_AF,PEX6
718011,6:42946477:C>T,NM_000287.3:c.412G>A,NP_000278.3:p.Val138Met,1/17,\N,Likely benign,\N,missense_variant,23,\N,\N,PEX6
718012,6:42946478:C>T,NM_000287.3:c.411G>A,NP_000278.3:p.Arg137=,1/17,\N,Unknown significance,\N,synonymous_variant,7.018,0.000132767,EXAC_SAS_AF,PEX6
718013,6:42946480:G>A,NM_000287.3:c.409C>T,NP_000278.3:p.Arg137Trp,1/17,\N,Unknown significance,\N,missense_variant,27.8,\N,\N,PEX6
718014,6:42946482:G>A,NM_000287.3:c.407C>T,NP_000278.3:p.Pro136Leu,1/17,\N,Likely benign,\N,missense_variant,9.59,\N,\N,PEX6
718015,6:42946482:G>T,NM_000287.3:c.407C>A,NP_000278.3:p.Pro136Gln,1/17,\N,Unknown significance,\N,missense_variant,23.1,\N,\N,PEX6
718016,6:42946486:C>T,NM_000287.3:c.403G>A,NP_000278.3:p.Gly135Arg,1/17,\N,Unknown significance,\N,missense_variant,26.8,0.0002849,EXAC_NFE_AF,PEX6
718017,6:42946486:CG>C,NM_000287.3:c.402del,NP_000278.3:p.Gly135AspfsTer23,1/17,\N,Pathogenic,Zellweger syndrome C,frameshift_variant,23.9,\N,\N,PEX6
718018,6:42946487:G>A,NM_000287.3:c.402C>T,NP_000278.3:p.Pro134=,1/17,\N,Unknown significance,\N,synonymous_variant,7.261,\N,\N,PEX6
718019,6:42946489:G>T,NM_000287.3:c.400C>A,NP_000278.3:p.Pro134Thr,1/17,\N,Unknown significance,\N,missense_variant,14.88,\N,\N,PEX6
718020,6:42946490:C>A,NM_000287.3:c.399G>T,NP_000278.3:p.Val133=,1/17,\N,Benign,\N,synonymous_variant,9.096,0.6,EXAC_FIN_AF,PEX6
718021,6:42946499:G>A,NM_000287.3:c.390C>T,NP_000278.3:p.Thr130=,1/17,\N,Unknown significance,\N,synonymous_variant,1.75,\N,\N,PEX6
718022,6:42946511:C>A,NM_000287.3:c.378G>T,NP_000278.3:p.Arg126Ser,1/17,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,PEX6
718023,6:42946514:C>A,NM_000287.3:c.375G>T,NP_000278.3:p.Val125=,1/17,\N,Unknown significance,\N,synonymous_variant,14.43,\N,\N,PEX6
718024,6:42946517:C>G,NM_000287.3:c.372G>C,NP_000278.3:p.Leu124=,1/17,\N,Unknown significance,\N,synonymous_variant,11.06,\N,\N,PEX6
718025,6:42946522:G>A,NM_000287.3:c.367C>T,NP_000278.3:p.Leu123=,1/17,\N,Unknown significance,\N,synonymous_variant,10.11,\N,\N,PEX6
718026,6:42946529:G>A,NM_000287.3:c.360C>T,NP_000278.3:p.Val120=,1/17,\N,Unknown significance,\N,synonymous_variant,13.24,\N,\N,PEX6
718027,6:42946541:G>A,NM_000287.3:c.348C>T,NP_000278.3:p.Leu116=,1/17,\N,Unknown significance,\N,synonymous_variant,8.859,0.000716846,EXAC_NFE_AF,PEX6
718028,6:42946555:G>A,NM_000287.3:c.334C>T,NP_000278.3:p.Leu112=,1/17,\N,Unknown significance,\N,synonymous_variant,1.578,\N,\N,PEX6
718029,6:42946559:G>C,NM_000287.3:c.330C>G,NP_000278.3:p.Thr110=,1/17,\N,Benign,\N,synonymous_variant,4.099,0.0338983,EXAC_OTH_AF,PEX6
718030,6:42946574:C>T,NM_000287.3:c.315G>A,NP_000278.3:p.Trp105Ter,1/17,\N,Unknown significance,\N,stop_gained,37,0.000135281,EXAC_SAS_AF,PEX6
718031,6:42946577:AC>A,NM_000287.3:c.311del,NP_000278.3:p.Gly104ValfsTer22,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,32,\N,\N,PEX6
718032,6:42946583:C>A,NM_000287.3:c.306G>T,NP_000278.3:p.Ala102=,1/17,\N,Unknown significance,\N,synonymous_variant,22.6,0.000402901,EXAC_NFE_AF,PEX6
718033,6:42946587:G>C,NM_000287.3:c.302C>G,NP_000278.3:p.Pro101Arg,1/17,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,PEX6
718034,6:42946591:G>A,NM_000287.3:c.298C>T,NP_000278.3:p.Pro100Ser,1/17,\N,Unknown significance,\N,missense_variant,26.1,0.000139743,EXAC_SAS_AF,PEX6
718035,6:42946594:G>A,NM_000287.3:c.295C>T,NP_000278.3:p.Arg99Trp,1/17,\N,Unknown significance,\N,missense_variant,34,\N,\N,PEX6
718036,6:42946596:C>T,NM_000287.3:c.293G>A,NP_000278.3:p.Arg98Gln,1/17,\N,Unknown significance,\N,missense_variant,35,\N,\N,PEX6
718037,6:42946600:CCGCCCG>C,NM_000287.3:c.283_288del,NP_000278.3:p.Arg95_Ala96del,1/17,\N,Unknown significance,\N,inframe_deletion,\N,\N,\N,PEX6
718038,6:42946601:C>A,NM_000287.3:c.288G>T,NP_000278.3:p.Ala96=,1/17,\N,Unknown significance,\N,synonymous_variant,21.7,0.0015,1KG_AFR_AF,PEX6
718039,6:42946606:G>A,NM_000287.3:c.283C>T,NP_000278.3:p.Arg95Trp,1/17,\N,Likely benign,\N,missense_variant,27.6,0.000148368,EXAC_SAS_AF,PEX6
718040,6:42946608:G>T,NM_000287.3:c.281C>A,NP_000278.3:p.Ala94Glu,1/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,27.9,\N,\N,PEX6
718041,6:42946608:GCCCGCA>G,NM_000287.3:c.275_280del,NP_000278.3:p.Val92_Arg93del,1/17,\N,Pathogenic,Zellweger syndrome C,inframe_deletion,22.7,\N,\N,PEX6
718042,6:42946612:G>C,NM_000287.3:c.277C>G,NP_000278.3:p.Arg93Gly,1/17,\N,Pathogenic,Zellweger syndrome,missense_variant,28.2,\N,\N,PEX6
718043,6:42946619:G>A,NM_000287.3:c.270C>T,NP_000278.3:p.Ala90=,1/17,\N,Unknown significance,\N,synonymous_variant,7.072,0.000151699,EXAC_SAS_AF,PEX6
718044,6:42946624:C>G,NM_000287.3:c.265G>C,NP_000278.3:p.Gly89Arg,1/17,\N,Unknown significance,\N,missense_variant,25.4,\N,\N,PEX6
718045,6:42946654:C>G,NM_000287.3:c.235G>C,NP_000278.3:p.Ala79Pro,1/17,\N,Benign,\N,missense_variant,24.7,0.0653595,EXAC_NFE_AF,PEX6
718046,6:42946664:C>CA,NM_000287.3:c.224dup,NP_000278.3:p.Val76GlyfsTer2,1/17,\N,Pathogenic,Zellweger syndrome,frameshift_variant,31,\N,\N,PEX6
718047,6:42946670:C>T,NM_000287.3:c.219G>A,NP_000278.3:p.Gln73=,1/17,\N,Benign,\N,synonymous_variant,9.069,0.00574713,EXAC_AFR_AF,PEX6
718048,6:42946679:C>T,NM_000287.3:c.210G>A,NP_000278.3:p.Gly70=,1/17,\N,Benign,\N,synonymous_variant,14.8,0.01,EXAC_OTH_AF,PEX6
718049,6:42946682:G>A,NM_000287.3:c.207C>T,NP_000278.3:p.Pro69=,1/17,\N,Benign,\N,synonymous_variant,13.82,0.0877,1KG_AFR_AF,PEX6
718050,6:42946687:C>T,NM_000287.3:c.202G>A,NP_000278.3:p.Gly68Ser,1/17,\N,Likely benign,\N,missense_variant,23.5,\N,\N,PEX6
718051,6:42946719:A>G,NM_000287.3:c.170T>C,NP_000278.3:p.Leu57Pro,1/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,17.74,\N,\N,PEX6
718052,6:42946767:C>T,NM_000287.3:c.122G>A,NP_000278.3:p.Arg41Lys,1/17,\N,Unknown significance,\N,missense_variant,28.1,0.000157828,EVS_EA_AF,PEX6
718053,6:42946768:TCAGGGC>T,NM_000287.3:c.115_120del,NP_000278.3:p.Ala39_Leu40del,1/17,\N,Pathogenic,Zellweger syndrome,inframe_deletion,21.7,\N,\N,PEX6
718054,6:42946783:G>T,NM_000287.3:c.106C>A,NP_000278.3:p.Leu36Met,1/17,\N,Likely benign,\N,missense_variant,16.28,\N,\N,PEX6
718055,6:42946796:C>G,NM_000287.3:c.93G>C,NP_000278.3:p.Ala31=,1/17,\N,Unknown significance,\N,synonymous_variant,17.52,\N,\N,PEX6
718056,6:42946817:T>G,NM_000287.3:c.72A>C,NP_000278.3:p.Pro24=,1/17,\N,Unknown significance,\N,synonymous_variant,8.25,\N,\N,PEX6
718057,6:42946836:G>C,NM_000287.3:c.53C>G,NP_000278.3:p.Pro18Arg,1/17,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,PEX6
718058,6:42946852:G>T,NM_000287.3:c.37C>A,NP_000278.3:p.Pro13Thr,1/17,\N,Unknown significance,\N,missense_variant,26,\N,\N,PEX6
718059,6:42946854:A>G,NM_000287.3:c.35T>C,NP_000278.3:p.Phe12Ser,1/17,\N,Pathogenic,Peroxisome biogenesis disorder,missense_variant,28.2,\N,\N,PEX6
718060,6:42946856:G>A,NM_000287.3:c.33C>T,NP_000278.3:p.Pro11=,1/17,\N,Unknown significance,\N,synonymous_variant,10.74,0.0000880282,EXAC_NFE_AF,PEX6
718061,6:42946864:G>A,NM_000287.3:c.25C>T,NP_000278.3:p.Leu9=,1/17,\N,Benign,\N,synonymous_variant,9.181,0.00541516,EXAC_EAS_AF,PEX6
718062,6:42946874:G>C,NM_000287.3:c.15C>G,NP_000278.3:p.Val5=,1/17,\N,Unknown significance,\N,synonymous_variant,9.101,0.0008,1KG_AFR_AF,PEX6
718063,6:42946885:C>T,NM_000287.3:c.4G>A,NP_000278.3:p.Ala2Thr,1/17,\N,Likely benign,\N,missense_variant,23.8,0.000563698,EXAC_AMR_AF,PEX6
718064,6:42946890:G>C,NM_000287.3:c.-2C>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,4.999,0.00479846,EXAC_AFR_AF,PEX6
718065,6:42946900:A>C,NM_000287.3:c.-12T>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,5.754,0.0000614024,EXAC_NFE_AF,PEX6
718066,6:42946908:G>T,NM_000287.3:c.-20C>A,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,8.581,0.000501505,EXAC_AFR_AF,PEX6
718067,6:42946909:G>C,NM_000287.3:c.-21C>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,5.3,0.0000634276,EXAC_NFE_AF,PEX6
718068,6:42946917:AG>A,NM_000287.3:c.-30del,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,2.17,\N,\N,PEX6
718069,6:42946923:G>A,NM_000287.3:c.-35C>T,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,8.685,0.00012219,EVS_EA_AF,PEX6
718070,6:42946927:C>T,NM_000287.3:c.-39G>A,\N,1/17,\N,Benign,\N,5_prime_UTR_variant,11.3,0.00843061,EXAC_EAS_AF,PEX6
718071,6:42946932:G>A,NM_000287.3:c.-44C>T,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,15.34,\N,\N,PEX6
718072,6:42946933:G>A,NM_000287.3:c.-45C>T,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,13.6,0.00315789,EXAC_AMR_AF,PEX6
718073,6:42946933:G>C,NM_000287.3:c.-45C>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,11.31,0.0000872448,EXAC_NFE_AF,PEX6
718074,6:42946936:C>T,NM_000287.3:c.-48G>A,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,10.09,\N,\N,PEX6
718075,6:42946937:C>G,NM_000287.3:c.-49G>C,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,9.154,0.000169062,EXAC_NFE_AF,PEX6
718076,6:42946937:C>T,NM_000287.3:c.-49G>A,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,10.48,0.0018797,EXAC_FIN_AF,PEX6
718077,6:42946943:G>A,NM_000287.3:c.-55C>T,\N,1/17,\N,Benign,\N,5_prime_UTR_variant,8.401,0.4612,1KG_EUR_AF,PEX6
718078,6:42946951:A>C,NM_000287.3:c.-63T>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,6.147,\N,\N,PEX6
718079,6:42946966:G>C,NM_000287.3:c.-78C>G,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,0.392,0.002,1KG_EAS_AF,PEX6
718080,6:42946967:G>A,NM_000287.3:c.-79C>T,\N,1/17,\N,Unknown significance,\N,5_prime_UTR_variant,10.59,0.0014,1KG_AMR_AF,PEX