Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-71818423-AAGAT-A p.Phe98fs frameshift ANAPC15 1 52040 1.9216E-5 26020 0 NA
11-71818430-G-T p.Thr95Thr synonymous ANAPC15 25 52126 4.79607E-4 26063 0 8.18063E-4
11-71818433-G-C p.Thr94Thr synonymous ANAPC15 1 52128 1.91835E-5 26064 0 3.18431E-5
11-71818456-T-C p.Met87Val missense ANAPC15 1 52236 1.91439E-5 26118 0 NA
11-71818461-A-G p.Phe85Ser missense ANAPC15 3 52244 5.74229E-5 26122 0 3.18471E-5
11-71818502-C-CCAGG p.Trp71fs frameshift ANAPC15 2 52352 3.82029E-5 26176 0 1.6603E-4
11-71818515-G-A p.Ser67Leu missense ANAPC15 2 52350 3.82044E-5 26175 0 NA
11-71818518-G-A p.Pro66Leu missense ANAPC15 1 52352 1.91015E-5 26176 0 3.18532E-5
11-71818529-G-T p.Pro62Pro synonymous ANAPC15 6 52358 1.14596E-4 26179 0 8.2481E-5
11-71818544-C-T p.Met57Ile missense ANAPC15 2 52370 3.81898E-5 26185 0 2.22856E-5
11-71818548-T-C p.Tyr56Cys missense ANAPC15 1 52376 1.90927E-5 26188 0 0.00125
11-71818550-C-T p.Val55Val synonymous ANAPC15 3 52378 5.7276E-5 26189 0 8.25628E-5
11-71818558-G-A p.Pro53Ser missense ANAPC15 1 52380 1.90913E-5 26190 0 NA
11-71818571-A-G p.Ser48Ser synonymous ANAPC15 1 52414 1.90789E-5 26207 0 NA
11-71818578-T-C p.Lys46Arg missense ANAPC15 1 52442 1.90687E-5 26221 0 2.23078E-5
11-71818581-A-G p.Ile45Thr missense ANAPC15 2 52460 3.81243E-5 26230 0 1.59337E-4
11-71818599-T-G p.Gln39Pro missense ANAPC15 2 52572 3.80431E-5 26286 0 NA
11-71818617-T-C p.Tyr33Cys missense ANAPC15 5 52736 9.48119E-5 26368 0 NA
11-71818629-G-A p.Thr29Ile missense ANAPC15 1 53008 1.88651E-5 26504 0 1.16959E-4
11-71818629-G-T p.Thr29Asn missense ANAPC15 1 53008 1.88651E-5 26504 0 NA
11-71818635-A-G p.Leu27Pro missense ANAPC15 5 53146 9.40805E-5 26573 0 6.37064E-5
11-71819923-T-C c.*99-2A>G splice_acceptor ANAPC15 1 81410 1.22835E-5 40705 0 NA
11-71820387-T-C p.Asn107Asp missense+splice_region ANAPC15 1 10894 9.17936E-5 5447 0 3.18552E-5
11-71820636-A-G c.*291T>C splice_region ANAPC15 1 55352 1.80662E-5 27676 0 NA
11-71820848-T-C c.*79A>G splice_region ANAPC15 397 80110 0.00495569 40055 11 0.0107774
11-71820930-G-C p.Ile121Met missense ANAPC15 1 82410 1.21345E-5 41205 0 3.18796E-5
11-71820956-C-T p.Glu113Lys missense ANAPC15 1 82712 1.20901E-5 41356 0 NA
11-71820968-T-C p.Met109Val missense ANAPC15 2 82828 2.41464E-5 41414 0 3.18674E-5
11-71820973-A-G p.Val107Ala missense+splice_region ANAPC15 1 82826 1.20735E-5 41413 0 NA
11-71820979-A-T p.Leu109His missense ANAPC15 36 82812 4.3472E-4 41406 0 2.03887E-4
11-71821117-C-T p.???124??? splice_region+synonymous ANAPC15 2 82276 2.43084E-5 41138 0 6.59011E-5
11-71821131-T-C c.318+3A>G splice_region ANAPC15 7 82612 8.47335E-5 41306 0 1.27453E-4
11-71821138-T-C p.Asn105Ser missense ANAPC15 1 82750 1.20846E-5 41375 0 3.97744E-6
11-71821155-C-T p.Pro99Pro synonymous ANAPC15 4 83004 4.81904E-5 41502 0 6.37024E-5
11-71821156-G-A p.Pro99Leu missense ANAPC15 35 83024 4.21565E-4 41512 0 5.03525E-4
11-71821164-A-G p.Asn96Asn synonymous ANAPC15 1 83130 1.20294E-5 41565 0 3.97722E-6
11-71821182-G-A p.Asp90Asp synonymous ANAPC15 1 83260 1.20106E-5 41630 0 3.18715E-5
11-71821188-G-A p.Asp88Asp synonymous ANAPC15 2 83320 2.40038E-5 41660 0 5.57001E-5
11-71821203-A-T p.Asp83Glu missense ANAPC15 1 83346 1.19982E-5 41673 0 NA
11-71821218-C-T p.Glu78Glu synonymous ANAPC15 1 83366 1.19953E-5 41683 0 8.23642E-6
11-71821225-C-G p.Ser76Thr missense ANAPC15 2 83374 2.39883E-5 41687 0 3.18446E-5
11-71821236-A-G p.Asp72Asp synonymous ANAPC15 7527 83266 0.090397 41633 461 0.125
11-71821239-T-A p.Glu71Asp missense ANAPC15 5 83362 5.99794E-5 41681 0 6.37308E-5
11-71821260-G-A c.-64C>T 5_prime_UTR_premature_start_codon_gain ANAPC15 1 83342 1.19988E-5 41671 0 1.67355E-4
11-71821260-G-C p.Asp64Glu missense ANAPC15 1 83342 1.19988E-5 41671 0 NA
11-71821261-T-A p.Asp64Val missense ANAPC15 1 83332 1.20002E-5 41666 0 3.98324E-6
11-71821269-G-A p.His61His splice_region+synonymous ANAPC15 2 83324 2.40027E-5 41662 0 NA
11-71821273-T-TCTGA p.Gln72fs frameshift ANAPC15 2 83316 2.4005E-5 41658 1 NA
11-71821280-C-T p.Ala70Thr missense ANAPC15 1 83264 1.201E-5 41632 0 NA
11-71821293-G-A p.Tyr65Tyr synonymous ANAPC15 1 83192 1.20204E-5 41596 0 NA
11-71821301-T-C p.Arg63Gly missense ANAPC15 1 83120 1.20308E-5 41560 0 NA
11-71821307-C-A p.Ala61Ser missense+splice_region ANAPC15 12 83024 1.44537E-4 41512 0 8.25491E-6
11-71821308-C-G c.181-1G>C splice_acceptor ANAPC15 1 83026 1.20444E-5 41513 0 NA
11-71821583-C-T c.180+7G>A splice_region ANAPC15 2 83282 2.40148E-5 41641 0 NA
11-71821609-A-G p.Ile54Thr missense ANAPC15 2 83304 2.40085E-5 41652 0 1.19365E-5
11-71821610-T-C p.Ile54Val missense ANAPC15 2 83300 2.40096E-5 41650 0 3.18471E-5
11-71821635-C-T p.Ala45Ala synonymous ANAPC15 2 83284 2.40142E-5 41642 0 3.29679E-5
11-71821636-G-A p.Ala45Val missense ANAPC15 8 83270 9.6073E-5 41635 0 1.59266E-4
11-71821637-C-T p.Ala45Thr missense ANAPC15 1 83276 1.20083E-5 41638 0 1.19459E-5
11-71821653-TG-T c.121-5delC splice_region ANAPC15 5 83212 6.00875E-5 41606 0 1.59265E-5
11-71821656-G-A c.121-7C>T splice_region ANAPC15 4 83196 4.80792E-5 41598 0 6.59848E-5
11-71822252-C-T p.Cys24Tyr missense ANAPC15 1 83184 1.20215E-5 41592 0 NA
11-71822259-G-A p.Arg22* stop_gained ANAPC15 2 83208 2.40361E-5 41604 0 NA
11-71822317-G-T p.Ser2Ser synonymous ANAPC15 3 83160 3.6075E-5 41580 0 NA
11-71822330-A-T c.-8T>A splice_region ANAPC15 1 83038 1.20427E-5 41519 0 NA
11-71822332-A-ATAGCTGTTTGACCTTGGCTGAGTCACTTAACCTCT c.-10-1_-10insAGAGGTTAAGTGACTCAGCCAAGGTCAAACAGCTA splice_acceptor ANAPC15 1 82982 1.20508E-5 41491 0 NA
11-71822332-A-ATAGCTGTTTGACCTTGG c.-10-1_-10insCCAAGGTCAAACAGCTA splice_acceptor ANAPC15 1 82984 1.20505E-5 41492 0 NA
11-71822335-G-A c.-10-3C>T splice_region ANAPC15 1 82942 1.20566E-5 41471 0 4.03786E-6
11-71822339-G-A c.-10-7C>T splice_region ANAPC15 1 82856 1.20691E-5 41428 0 NA
11-71822340-A-T c.-10-8T>A splice_region ANAPC15 1 82832 1.20726E-5 41416 0 NA
11-71822513-C-T c.-66G>A 5_prime_UTR_premature_start_codon_gain ANAPC15 1 43538 2.29684E-5 21769 0 NA
11-71823688-G-A c.-96+8C>T splice_region ANAPC15 16 54076 2.9588E-4 27038 0 2.26847E-4
11-71823691-C-T c.-96+5G>A splice_region ANAPC15 1 54100 1.84843E-5 27050 0 7.31754E-6
11-71823696-C-G c.-96G>C splice_region ANAPC15 1 54132 1.84734E-5 27066 0 NA
11-71823709-T-A c.-109A>T 5_prime_UTR_premature_start_codon_gain ANAPC15 40 54212 7.37844E-4 27106 0 0.00130673
11-71823766-A-C c.-166T>G 5_prime_UTR_premature_start_codon_gain ANAPC15 1 54326 1.84074E-5 27163 0 NA
11-71823780-C-T c.-91G>A splice_region ANAPC15 2 54328 3.68134E-5 27164 0 6.25E-4