Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-79848726-C-T c.-76C>T splice_region ANAPC11 1 82138 1.21746E-5 41069 0 3.98819E-6
17-79848728-G-C c.-75+1G>C splice_donor ANAPC11 2 82068 2.437E-5 41034 0 NA
17-79848732-GTC-G c.-75+8_-75+9delTC splice_region ANAPC11 1 81970 1.21996E-5 40985 0 NA
17-79848732-G-C c.-75+5G>C splice_region ANAPC11 1 81970 1.21996E-5 40985 0 3.99227E-6
17-79849531-C-G c.-125C>G 5_prime_UTR_premature_start_codon_gain ANAPC11 1 36532 2.73733E-5 18266 0 NA
17-79849546-T-C c.-110T>C 5_prime_UTR_premature_start_codon_gain ANAPC11 3 34698 8.64603E-5 17349 0 1.93661E-4
17-79849553-C-T c.-103C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 2 34090 5.86682E-5 17045 0 NA
17-79849633-T-C c.-159T>C 5_prime_UTR_premature_start_codon_gain ANAPC11 9 23364 3.85208E-4 11682 0 5.16996E-4
17-79849660-C-T c.-132C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 1 16642 6.00889E-5 8321 0 NA
17-79849721-C-A c.-75+4C>A splice_region ANAPC11 1 10366 9.64692E-5 5183 0 3.19795E-5
17-79851425-T-A c.-74-3T>A splice_region ANAPC11 1 26 0.0384615 13 0 NA
17-79852197-C-T c.-157C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 2 53100 3.76648E-5 26550 0 3.19959E-5
17-79852210-C-T c.-144C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 1 56980 1.755E-5 28490 0 NA
17-79852223-C-T c.-131C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 5 60494 8.26528E-5 30247 0 0.00125
17-79852274-G-A c.-80G>A 5_prime_UTR_premature_start_codon_gain ANAPC11 2375 72790 0.0326281 36395 145 0.0833812
17-79852274-G-T c.-80G>T 5_prime_UTR_premature_start_codon_gain ANAPC11 1 73420 1.36203E-5 36710 0 NA
17-79852293-C-G c.-61C>G 5_prime_UTR_premature_start_codon_gain ANAPC11 7 77030 9.08737E-5 38515 0 0.001875
17-79852321-C-T c.-33C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 3 80228 3.73934E-5 40114 0 4.94409E-5
17-79852334-C-G c.-20C>G 5_prime_UTR_premature_start_codon_gain ANAPC11 3 81406 3.68523E-5 40703 0 1.68583E-5
17-79852335-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 1 81426 1.22811E-5 40713 0 6.25E-4
17-79852336-G-A c.-11-7G>A splice_region ANAPC11 248 81478 0.00304377 40739 2 0.00514049
17-79852338-C-T c.-16C>T 5_prime_UTR_premature_start_codon_gain ANAPC11 5 81682 6.1213E-5 40841 0 6.38081E-5
17-79852339-G-A c.-11-4G>A splice_region ANAPC11 228 81710 0.00279036 40855 1 0.00536227
17-79852374-C-G p.Cys7Trp missense ANAPC11 1 82736 1.20866E-5 41368 0 NA
17-79852374-C-T p.Cys7Cys synonymous ANAPC11 1 82736 1.20866E-5 41368 0 3.99198E-6
17-79852380-C-T p.Asn9Asn synonymous ANAPC11 1 82788 1.2079E-5 41394 0 8.2883E-6
17-79852383-C-T p.Gly10Gly synonymous ANAPC11 3 82798 3.62328E-5 41399 0 7.98148E-6
17-79852400-G-C p.Trp16Ser missense ANAPC11 1 82858 1.20688E-5 41429 0 NA
17-79852409-A-G p.Asn19Ser missense ANAPC11 3 82880 3.61969E-5 41440 0 3.19122E-5
17-79852425-C-T p.Gly24Gly synonymous ANAPC11 2 82830 2.41458E-5 41415 0 2.8006E-5
17-79852428-C-T p.Ile25Ile synonymous ANAPC11 1 82820 1.20744E-5 41410 0 9.56511E-5
17-79852429-T-C p.Cys26Arg missense ANAPC11 1 82818 1.20747E-5 41409 0 8.00243E-6
17-79852434-G-GATGGC p.Phe30fs frameshift ANAPC11 1 82794 1.20782E-5 41397 0 NA
17-79852446-C-T p.Asn31Asn synonymous ANAPC11 2 82634 2.42031E-5 41317 0 6.25E-4
17-79852447-G-A p.Gly32Arg missense ANAPC11 1 82578 1.21098E-5 41289 0 NA
17-79852449-A-T p.Gly32Gly synonymous ANAPC11 6 82548 7.2685E-5 41274 0 1.59388E-4
17-79852449-A-C p.Gly32Gly synonymous ANAPC11 1 82548 1.21142E-5 41274 0 NA
17-79852456-CCTGA-C p.Asp36fs frameshift ANAPC11 1 82384 1.21383E-5 41192 0 1.21339E-5
17-79852465-G-T p.Glu38* stop_gained ANAPC11 1 82064 1.21856E-5 41032 0 NA
17-79852468-T-C p.Cys39Arg missense ANAPC11 1 81948 1.22029E-5 40974 0 NA
17-79852478-A-C p.His42Pro missense ANAPC11 1 81380 1.2288E-5 40690 0 NA
17-79852634-C-G c.110-5C>G splice_region ANAPC11 7 25640 2.73011E-4 12820 0 6.41849E-4
17-79852643-G-C p.Trp38Cys missense ANAPC11 1 22704 4.40451E-5 11352 0 NA
17-79852650-A-G p.Met41Val missense ANAPC11 1 20774 4.81371E-5 10387 0 3.37701E-5
17-79852656-C-T p.Arg43* stop_gained ANAPC11 1 16988 5.88651E-5 8494 0 1.60102E-4
17-79852657-G-A p.Arg43Gln missense ANAPC11 92 17012 0.00540795 8506 0 0.0364078
17-79852663-G-A p.Arg45Gln missense ANAPC11 1 14796 6.75858E-5 7398 0 6.63834E-5
17-79852670-C-T p.Ala47Ala synonymous ANAPC11 2 12586 1.58907E-4 6293 0 3.48991E-5
17-79852686-C-T p.Arg53Trp missense ANAPC11 1 9978 1.0022E-4 4989 0 6.75995E-5
17-79852721-G-A p.Lys64Lys synonymous ANAPC11 3 4820 6.22407E-4 2410 0 6.5634E-5
17-79852729-G-T p.Gly67Val missense ANAPC11 1 4120 2.42718E-4 2060 0 NA
17-79857104-CCT-C c.110-9_110-8delCT splice_region ANAPC11 5 80116 6.24095E-5 40058 0 9.55597E-5
17-79857137-C-G p.Ser43Arg missense ANAPC11 228 81946 0.00278232 40973 1 0.00535407
17-79857142-C-T p.Ser45Phe missense ANAPC11 1 82112 1.21785E-5 41056 0 8.41893E-6
17-79857144-A-G p.Arg46Gly missense ANAPC11 2 82144 2.43475E-5 41072 0 NA
17-79857146-G-C p.Arg46Ser missense ANAPC11 2 82192 2.43333E-5 41096 0 NA
17-79857160-G-A p.Cys51Tyr missense ANAPC11 1 82328 1.21465E-5 41164 0 3.18593E-5
17-79857161-C-T p.Cys51Cys synonymous ANAPC11 2 82316 2.42966E-5 41158 0 4.01374E-6
17-79857163-C-T p.Pro52Leu missense ANAPC11 12 82322 1.45769E-4 41161 0 1.08356E-4
17-79857164-G-A p.Pro52Pro synonymous ANAPC11 3 82306 3.64493E-5 41153 0 8.36638E-6
17-79857165-C-T p.Gln53* stop_gained ANAPC11 1 82322 1.21474E-5 41161 0 NA
17-79857176-T-C p.Pro56Pro synonymous ANAPC11 1 82426 1.21321E-5 41213 0 0.00151057
17-79857180-C-G p.Leu58Val missense ANAPC11 2 82438 2.42607E-5 41219 0 1.27478E-4
17-79857182-G-A p.Leu58Leu synonymous ANAPC11 5 82438 6.06516E-5 41219 0 3.18796E-5
17-79857187-G-C p.Gly60Ala missense ANAPC11 16 82358 1.94274E-4 41179 0 5.41781E-4
17-79857191-G-A p.Arg61Arg synonymous ANAPC11 5 82446 6.06458E-5 41223 0 1.59429E-4
17-79857192-G-GC p.His63fs frameshift ANAPC11 1 82410 1.21345E-5 41205 0 NA
17-79857201-C-G p.Gln65Glu missense+splice_region ANAPC11 35 82472 4.24386E-4 41236 0 9.56084E-4
17-79857201-C-A p.Gln65Lys missense+splice_region ANAPC11 1 82472 1.21253E-5 41236 0 NA
17-79857204-G-A c.195+1G>A splice_donor ANAPC11 1 82446 1.21292E-5 41223 0 NA
17-79857210-A-G p.Ile68Val missense ANAPC11 1 82534 1.21162E-5 41267 0 NA
17-79857220-C-T p.Ala71Val missense ANAPC11 1 82532 1.21165E-5 41266 0 NA
17-79857221-T-G p.Ala71Ala synonymous ANAPC11 2716 82444 0.0329436 41222 279 0.071661
17-79857229-C-T p.Thr74Met missense ANAPC11 20 82586 2.42172E-4 41293 0 3.82312E-4
17-79857230-G-A p.Thr74Thr synonymous ANAPC11 6 82560 7.26744E-5 41280 0 1.27478E-4
17-79857237-C-T p.Gln77* stop_gained ANAPC11 1 82610 1.21051E-5 41305 0 NA
17-79857245-C-T p.Thr79Thr synonymous ANAPC11 3 82704 3.62739E-5 41352 0 6.25E-4
17-79857245-C-G p.Thr79Thr synonymous ANAPC11 1 82704 1.20913E-5 41352 0 NA
17-79857246-G-C p.Gly80Arg missense ANAPC11 1 82746 1.20852E-5 41373 0 3.98587E-6
17-79857257-G-A p.Met83Ile missense ANAPC11 1 82838 1.20718E-5 41419 0 8.29421E-6
17-79857293-C-T p.Thr95Thr synonymous ANAPC11 1 82888 1.20645E-5 41444 0 NA
17-79857316-C-A p.Thr103Asn missense ANAPC11 1 82798 1.20776E-5 41399 0 3.98238E-6
17-79857317-C-G p.Thr103Thr synonymous ANAPC11 1 82804 1.20767E-5 41402 0 NA
17-79857328-T-C p.Leu107Pro missense ANAPC11 3 82770 3.6245E-5 41385 0 4.06154E-4
17-79857329-C-T p.Leu107Leu synonymous ANAPC11 7 82772 8.45697E-5 41386 0 3.18532E-5
17-79857332-A-G p.Arg108Arg synonymous ANAPC11 2 82730 2.4175E-5 41365 0 4.38153E-5
17-79857337-C-T p.Thr110Met missense ANAPC11 8 82650 9.67937E-5 41325 0 4.38247E-5
17-79857338-G-A p.Thr110Thr synonymous ANAPC11 7 82652 8.46924E-5 41326 0 5.03525E-4
17-79857350-C-T p.Cys114Cys synonymous ANAPC11 2 82500 2.42424E-5 41250 0 3.31851E-5
17-79857352-T-C p.Leu115Pro missense ANAPC11 1 82500 1.21212E-5 41250 0 8.29696E-6
17-79857360-T-C p.Ser118Pro missense ANAPC11 1 82300 1.21507E-5 41150 0 NA
17-79857363-T-C p.Cys119Arg missense ANAPC11 2 82252 2.43155E-5 41126 0 NA
17-79857364-G-A p.Cys119Tyr missense ANAPC11 1 82214 1.21634E-5 41107 0 8.30192E-6
17-79857367-A-T p.Asp120Val missense ANAPC11 2 82114 2.43564E-5 41057 0 1.99448E-5
17-79857373-T-C p.Phe122Ser missense ANAPC11 3 81980 3.65943E-5 40990 0 1.66152E-5
17-79857387-C-A p.Gln127Lys missense ANAPC11 6 81560 7.35655E-5 40780 0 9.98934E-5
17-79857394-C-G p.Ser129Cys missense ANAPC11 1 81280 1.23031E-5 40640 0 NA
17-79857402-G-A p.Gly132Arg missense ANAPC11 2 80934 2.47115E-5 40467 0 NA
17-79857404-G-GC p.Arg134fs frameshift ANAPC11 1 80746 1.23845E-5 40373 0 3.18492E-5
17-79857404-G-A p.Gly132Gly synonymous ANAPC11 5 80746 6.19226E-5 40373 0 1.00336E-4
17-79857412-C-T p.Ala135Val missense ANAPC11 1 80190 1.24704E-5 40095 0 4.02207E-6
17-79857426-A-G c.410+8A>G splice_region ANAPC11 5 78738 6.35017E-5 39369 0 1.71057E-5
17-79857791-C-T c.110-5C>T splice_region ANAPC11 2 79652 2.51092E-5 39826 0 3.18431E-5
17-79857792-G-A c.110-4G>A splice_region ANAPC11 1 79744 1.25401E-5 39872 0 1.59236E-4
17-79857794-A-G c.110-2A>G splice_acceptor ANAPC11 1 80138 1.24785E-5 40069 0 NA
17-79857812-C-T p.Arg143* stop_gained ANAPC11 36 81108 4.43853E-4 40554 0 0.00102837
17-79857821-G-A p.Ala146Thr missense ANAPC11 2 81414 2.45658E-5 40707 0 2.01535E-5
17-79857821-G-C p.Ala146Pro missense ANAPC11 2 81414 2.45658E-5 40707 0 NA
17-79857839-C-T p.Leu152Phe missense ANAPC11 1 81712 1.22381E-5 40856 0 2.0102E-5
17-79857874-GGCTGCACGCACAGCAGGTGCAGCA-G p.Leu64_Gln71del disruptive_inframe_deletion ANAPC11 1 82100 1.21803E-5 41050 0 4.01355E-6
17-79857881-C-T p.Arg166Cys missense ANAPC11 4 81988 4.87876E-5 40994 0 6.25E-4
17-79857882-G-A p.Ala66Thr missense ANAPC11 4 81966 4.88007E-5 40983 0 NA
17-79857884-A-G p.Thr167Ala missense ANAPC11 2 81970 2.43992E-5 40985 0 NA
17-79857891-G-A p.Val69Met missense ANAPC11 4 81978 4.87936E-5 40989 0 NA
17-79857899-G-C p.Gln71His missense ANAPC11 1 81956 1.22017E-5 40978 0 4.02327E-6
17-79857905-C-T p.Pro174Ser missense ANAPC11 1 81946 1.22032E-5 40973 0 NA
17-79857938-G-T p.Glu84Asp missense ANAPC11 1 81696 1.22405E-5 40848 0 NA
17-79857943-G-A p.Arg186Arg synonymous ANAPC11 1 81566 1.226E-5 40783 0 NA
17-79857947-G-A p.Asp188Asn missense ANAPC11 1 81476 1.22736E-5 40738 0 3.18512E-5
17-79857958-C-T p.Leu191Leu synonymous ANAPC11 2 81328 2.45918E-5 40664 0 1.62319E-5
17-79857960-C-T p.Ala192Val missense ANAPC11 1 81240 1.23092E-5 40620 0 1.21857E-5
17-79857963-G-A p.Gly193Glu missense ANAPC11 1 81176 1.23189E-5 40588 0 4.06739E-6
17-79857964-A-C p.Gly193Gly synonymous ANAPC11 1 81096 1.23311E-5 40548 0 NA
17-79857973-C-T p.Ser196Ser synonymous ANAPC11 2 80900 2.47219E-5 40450 0 3.18451E-5
17-79857977-G-GAC c.*195_*196dupAC splice_region ANAPC11 1 80754 1.23833E-5 40377 0 NA