Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-219129271-T-C p.Gln430Gln synonymous AAMP 1 83240 1.20135E-5 41620 0 8.23778E-6
2-219129273-G-A p.Gln430* stop_gained AAMP 1 83236 1.2014E-5 41618 0 NA
2-219129289-C-T p.Ala424Ala synonymous AAMP 309 83268 0.00371091 41634 6 0.016875
2-219129307-C-T p.Thr418Thr synonymous AAMP 23 83248 2.76283E-4 41624 0 2.4715E-4
2-219129307-C-G p.Thr418Thr synonymous AAMP 1 83250 1.2012E-5 41625 0 NA
2-219129321-G-A p.Leu414Leu synonymous AAMP 2 83214 2.40344E-5 41607 0 1.19306E-5
2-219129325-G-A p.Ala412Ala synonymous AAMP 1 83192 1.20204E-5 41596 0 NA
2-219129331-T-TTTG c.1230-1_1230insCAA splice_acceptor AAMP 7 83162 8.41731E-5 41581 3 NA
2-219129332-CTG-C c.1230-3_1230-2delCA splice_acceptor AAMP 2 83140 2.40558E-5 41570 0 3.18756E-5
2-219129336-A-G c.1230-5T>C splice_region AAMP 1 83086 1.20357E-5 41543 0 3.97842E-6
2-219129763-G-C p.Ile403Met missense AAMP 4 82884 4.82602E-5 41442 0 3.32784E-5
2-219129765-T-C p.Ile403Val missense AAMP 2 82906 2.41237E-5 41453 0 1.16463E-4
2-219129772-C-T p.Thr400Thr synonymous AAMP 7 82908 8.44309E-5 41454 0 8.98607E-4
2-219129773-G-T p.Thr400Lys missense AAMP 3 82916 3.61812E-5 41458 0 6.36902E-5
2-219129773-G-A p.Thr400Met missense AAMP 2 82916 2.41208E-5 41458 0 2.39105E-5
2-219129783-G-A p.Arg397Trp missense AAMP 13 82926 1.56766E-4 41463 0 6.15518E-4
2-219129799-G-A p.Arg391Arg synonymous AAMP 1 82858 1.20688E-5 41429 0 NA
2-219129809-C-T p.Arg388Gln missense AAMP 1 82754 1.2084E-5 41377 0 1.19757E-5
2-219129810-G-T p.Arg388Arg synonymous AAMP 1 82738 1.20863E-5 41369 0 NA
2-219129810-G-A p.Arg388Trp missense AAMP 5 82738 6.04317E-5 41369 0 5.87012E-5
2-219129814-G-A p.Asp386Asp synonymous AAMP 4 82728 4.83512E-5 41364 0 6.37024E-5
2-219129824-C-T p.Arg383His missense AAMP 7 82740 8.46024E-5 41370 0 1.0165E-4
2-219129825-G-A p.Arg383Cys missense AAMP 3 82726 3.62643E-5 41363 0 4.23427E-5
2-219129828-C-T p.Val382Met missense AAMP 1 82704 1.20913E-5 41352 0 3.18451E-5
2-219129829-G-A p.Ile381Ile synonymous AAMP 1 82714 1.20899E-5 41357 0 7.61902E-5
2-219129856-C-T p.Val372Val synonymous AAMP 1 82612 1.21048E-5 41306 0 NA
2-219129858-C-T p.Val372Met missense AAMP 2 82564 2.42236E-5 41282 0 NA
2-219129859-G-A p.Ala371Ala synonymous AAMP 2 82578 2.42195E-5 41289 0 4.36689E-5
2-219129869-G-A p.Ala368Val missense AAMP 6 82470 7.27537E-5 41235 0 1.27761E-5
2-219129889-G-A p.Ile361Ile synonymous AAMP 3 82220 3.64875E-5 41110 0 6.36943E-5
2-219129891-T-C p.Ile361Val missense AAMP 1 82148 1.21732E-5 41074 0 4.45407E-6
2-219129896-G-A p.Ser359Leu missense+splice_region AAMP 49 81994 5.97605E-4 40997 0 0.00100806
2-219129905-G-A c.1075-8C>T splice_region AAMP 2175 81718 0.0266159 40859 27 0.0281955
2-219130113-C-T p.Arg352Lys missense AAMP 1 82160 1.21714E-5 41080 0 NA
2-219130125-G-A p.Thr348Met missense AAMP 4 82224 4.86476E-5 41112 0 2.85481E-4
2-219130127-A-G p.Ala347Ala synonymous AAMP 2 82282 2.43067E-5 41141 0 NA
2-219130142-G-A n.1014C>T splice_region AAMP 1 82362 1.21415E-5 41181 0 4.587E-5
2-219130161-T-C p.Tyr336Cys missense AAMP 1 82422 1.21327E-5 41211 0 NA
2-219130294-T-G c.983+8A>C splice_region AAMP 1 82690 1.20934E-5 41345 0 3.98368E-6
2-219130315-C-T p.Gly324Ser missense AAMP 1 82630 1.21021E-5 41315 0 1.27494E-4
2-219130316-C-T p.Leu323Leu synonymous AAMP 1 82636 1.21013E-5 41318 0 8.26542E-6
2-219130328-C-T p.Ser319Ser synonymous AAMP 3 82384 3.64148E-5 41192 0 2.59065E-4
2-219130328-C-A p.Ser319Ser synonymous AAMP 1 82384 1.21383E-5 41192 0 3.18796E-5
2-219130337-C-T p.Glu316Glu synonymous AAMP 2 82206 2.43291E-5 41103 0 3.98711E-6
2-219130367-C-G p.Gln306His missense AAMP 2 81812 2.44463E-5 40906 0 NA
2-219130370-G-A p.Ser305Ser synonymous AAMP 1 81798 1.22252E-5 40899 0 NA
2-219130413-C-G c.880-8G>C splice_region AAMP 109 82270 0.00132491 41135 3 0.0075
2-219130546-C-T c.879+8G>A splice_region AAMP 19 81910 2.31962E-4 40955 1 2.86642E-4
2-219130557-G-T p.Gly292Gly synonymous AAMP 2 82144 2.43475E-5 41072 0 NA
2-219130559-C-T p.Gly292Ser missense AAMP 10 82164 1.21708E-4 41082 0 1.6919E-5
2-219130560-G-A p.Thr291Thr synonymous AAMP 1 82154 1.21723E-5 41077 0 1.59266E-4
2-219130567-G-A p.Ala289Val missense AAMP 7 82234 8.51229E-5 41117 0 1.71783E-4
2-219130575-C-A p.Leu286Leu synonymous AAMP 1 82362 1.21415E-5 41181 0 6.37308E-5
2-219130589-A-C p.Cys282Gly missense AAMP 2 82440 2.42601E-5 41220 0 3.98429E-6
2-219130614-G-A p.Ser273Ser synonymous AAMP 1 82634 1.21016E-5 41317 0 3.33078E-5
2-219130620-A-G p.Asp271Asp synonymous AAMP 1 82670 1.20963E-5 41335 0 NA
2-219130642-G-A p.Thr264Ile missense AAMP 1 82748 1.20849E-5 41374 0 NA
2-219130676-T-C c.764-7A>G splice_region AAMP 131 82884 0.00158052 41442 0 0.00140199
2-219130774-C-CCA c.25+2_25+3dupTG splice_region AAMP 1 83272 1.20088E-5 41636 0 NA
2-219130775-C-A c.25+3G>T splice_region AAMP 47 83266 5.64456E-4 41633 1 0.005625
2-219130775-C-G c.25+3G>C splice_region AAMP 7 83266 8.40679E-5 41633 0 7.15905E-5
2-219130781-T-G c.763+6A>C splice_region AAMP 1 83274 1.20085E-5 41637 0 NA
2-219130794-T-A p.Val252Val synonymous AAMP 7 83290 8.40437E-5 41645 0 9.06155E-5
2-219130802-T-C p.Ile250Val missense AAMP 843 83296 0.0101205 41648 42 0.0284946
2-219130804-G-C p.Pro249Arg missense AAMP 2 83314 2.40056E-5 41657 0 1.15314E-4
2-219130804-G-A p.Pro249Leu missense AAMP 2 83314 2.40056E-5 41657 0 6.25E-4
2-219130805-G-A p.Pro249Ser missense AAMP 1 83310 1.20034E-5 41655 0 3.18634E-5
2-219130811-C-G p.Gly247Arg missense AAMP 1 83310 1.20034E-5 41655 0 3.9763E-6
2-219130813-T-G p.Gln246Pro missense AAMP 1 83310 1.20034E-5 41655 0 NA
2-219130821-G-T p.Asp243Glu missense AAMP 1 83312 1.20031E-5 41656 0 NA
2-219130860-A-G p.Ala230Ala synonymous AAMP 2 83256 2.40223E-5 41628 0 NA
2-219130864-C-G p.Arg229Thr missense AAMP 1 83246 1.20126E-5 41623 0 3.977E-6
2-219131179-T-G p.Arg222Arg synonymous AAMP 2 83024 2.40894E-5 41512 0 0.00125
2-219131180-C-T p.Arg222Gln missense AAMP 1 83032 1.20435E-5 41516 0 8.30261E-6
2-219131181-G-T p.Arg222Arg synonymous AAMP 6 83018 7.22735E-5 41509 0 3.31994E-5
2-219131182-G-A p.Gly221Gly synonymous AAMP 1 83034 1.20433E-5 41517 0 8.2982E-6
2-219131197-G-A p.Cys216Cys synonymous AAMP 1 82990 1.20496E-5 41495 0 1.6575E-5
2-219131205-G-C p.Pro214Ala missense AAMP 3 82982 3.61524E-5 41491 0 NA
2-219131210-T-G p.Gln212Pro missense AAMP 1 82978 1.20514E-5 41489 0 3.98279E-6
2-219131213-A-C p.Phe211Cys missense AAMP 1 82980 1.20511E-5 41490 0 3.18674E-5
2-219131216-G-A p.Thr210Ile missense AAMP 1 82952 1.20552E-5 41476 0 3.98254E-6
2-219131218-C-G p.Lys209Asn missense AAMP 2 82958 2.41086E-5 41479 0 NA
2-219131233-C-T p.Pro204Pro synonymous AAMP 27 82836 3.25945E-4 41418 0 5.73723E-4
2-219131246-A-C p.Met200Arg missense AAMP 1 82708 1.20907E-5 41354 0 8.32529E-6
2-219131251-G-C p.Thr198Thr synonymous AAMP 1 82624 1.2103E-5 41312 0 NA
2-219131260-G-A p.Asp195Asp synonymous AAMP 13 82262 1.58032E-4 41131 0 9.90431E-4
2-219131262-C-T p.Asp195Asn missense AAMP 1 82210 1.2164E-5 41105 0 NA
2-219131267-G-A p.Thr193Ile missense AAMP 1 81962 1.22008E-5 40981 0 NA
2-219131270-C-G p.Gly192Ala missense AAMP 14 82144 1.70432E-4 41072 0 2.17697E-4
2-219131273-G-A p.Ala191Val missense AAMP 10 82048 1.2188E-4 41024 0 5.0279E-5
2-219131283-C-T p.Val188Ile missense AAMP 1 81760 1.22309E-5 40880 0 NA
2-219131284-A-C p.Pro187Pro synonymous AAMP 1 81704 1.22393E-5 40852 0 8.01263E-6
2-219131291-C-T p.Arg185Gln missense AAMP 3 81152 3.69677E-5 40576 0 3.38375E-5
2-219131292-G-A p.Arg185Trp missense AAMP 1 81138 1.23247E-5 40569 0 3.1904E-5
2-219131295-G-A p.Pro184Ser missense AAMP 1 80996 1.23463E-5 40498 0 NA
2-219131313-G-A c.535-3C>T splice_region AAMP 6 79854 7.51371E-5 39927 0 4.78225E-4
2-219131313-G-GGTCTCCCGCTTCAAAGGACCA c.535-4_535-3insTGGTCCTTTGAAGCGGGAGAC splice_region AAMP 1 79854 1.25229E-5 39927 0 NA
2-219131314-G-A c.535-4C>T splice_region AAMP 1 79754 1.25386E-5 39877 0 NA
2-219131573-C-T p.Leu177Leu synonymous AAMP 1 83160 1.2025E-5 41580 0 NA
2-219131582-C-T p.Ala174Ala synonymous AAMP 6 83252 7.20703E-5 41626 0 3.18593E-5
2-219131583-G-A p.Ala174Val missense AAMP 1 83258 1.20109E-5 41629 0 9.56206E-5
2-219131597-G-A p.Val169Val synonymous AAMP 3 83302 3.60135E-5 41651 0 1.64737E-5
2-219131599-C-A p.Val169Phe missense AAMP 3 83304 3.60127E-5 41652 0 7.95305E-6
2-219131603-CT-C p.Glu167fs frameshift AAMP 1 83306 1.20039E-5 41653 0 NA
2-219131605-C-G p.Glu167Gln missense AAMP 2 83306 2.40079E-5 41653 0 7.95286E-6
2-219131613-T-C p.Asp164Gly missense AAMP 2 83286 2.40136E-5 41643 0 0.00855992
2-219131613-T-A p.Asp164Val missense AAMP 1 83290 1.20062E-5 41645 0 NA
2-219131620-G-T p.Gln162Lys missense AAMP 1 83340 1.1999E-5 41670 0 8.23655E-6
2-219131623-A-T p.Trp161Arg missense AAMP 12 83346 1.43978E-4 41673 0 1.91253E-4
2-219131623-A-G p.Trp161Arg missense AAMP 1 83346 1.19982E-5 41673 0 NA
2-219131633-G-C p.Leu157Leu synonymous AAMP 2 83352 2.39946E-5 41676 0 6.58935E-5
2-219131675-G-A p.Ser143Ser synonymous AAMP 1 83358 1.19964E-5 41679 0 1.64815E-5
2-219131708-G-T p.Gly132Gly splice_region+synonymous AAMP 1 83290 1.20062E-5 41645 0 NA
2-219131708-GC-G p.Gly132fs frameshift AAMP 2 83290 2.40125E-5 41645 0 NA
2-219132103-G-A n.567C>T splice_region AAMP 1 76886 1.30063E-5 38443 0 NA
2-219132210-C-T c.394+7G>A splice_region AAMP 4 82734 4.83477E-5 41367 0 5.58726E-5
2-219132212-C-T c.394+5G>A splice_region AAMP 2 82772 2.41628E-5 41386 0 NA
2-219132233-C-T p.Leu126Leu synonymous AAMP 1 83044 1.20418E-5 41522 0 NA
2-219132236-C-T p.Glu125Glu synonymous AAMP 1 83068 1.20383E-5 41534 0 8.23791E-6
2-219132253-G-A p.Arg120Trp missense AAMP 1 83260 1.20106E-5 41630 0 4.11834E-5
2-219132259-C-A p.Val118Leu missense AAMP 2 83322 2.40033E-5 41661 0 1.19317E-5
2-219132259-C-T p.Val118Ile missense AAMP 3 83322 3.60049E-5 41661 0 1.19317E-5
2-219132269-G-T p.Asp114Glu missense AAMP 1 83360 1.19962E-5 41680 0 NA
2-219132284-G-A p.Thr109Thr synonymous AAMP 10 83368 1.1995E-4 41684 0 3.29468E-5
2-219132296-G-A p.Thr105Thr synonymous AAMP 1 83370 1.19947E-5 41685 0 NA
2-219132306-T-C p.Lys102Arg missense AAMP 1 83354 1.1997E-5 41677 0 NA
2-219132307-T-C p.Lys102Glu missense AAMP 1 83358 1.19964E-5 41679 0 2.47105E-5
2-219132311-G-A p.Asp100Asp synonymous AAMP 2 83356 2.39935E-5 41678 0 NA
2-219132320-C-T p.Val97Val synonymous AAMP 1 83344 1.19985E-5 41672 0 6.37146E-5
2-219132335-T-A p.Ala92Ala splice_region+synonymous AAMP 1 83332 1.20002E-5 41666 0 8.23886E-6
2-219134107-G-A p.Ser91Leu missense+splice_region AAMP 1 83140 1.20279E-5 41570 0 1.59067E-5
2-219134110-T-G p.His90Pro missense AAMP 1 83168 1.20239E-5 41584 0 NA
2-219134116-G-A p.Ala88Val missense AAMP 163 83200 0.00195913 41600 3 0.0060423
2-219134117-C-T p.Ala88Thr missense AAMP 152 83222 0.00182644 41611 2 0.00366242
2-219134125-A-C p.Val85Gly missense AAMP 1 83270 1.20091E-5 41635 0 NA
2-219134138-C-T p.Asp81Asn missense AAMP 4 83310 4.80134E-5 41655 0 NA
2-219134142-G-T p.Gly79Gly synonymous AAMP 3 83312 3.60092E-5 41656 0 3.18512E-5
2-219134159-C-A p.Val74Phe missense AAMP 1 83322 1.20016E-5 41661 0 3.97633E-6
2-219134168-C-T p.Glu71Lys missense AAMP 6 83316 7.2015E-5 41658 0 6.36821E-5
2-219134197-T-C p.Asn61Ser missense AAMP 1 83276 1.20083E-5 41638 0 NA
2-219134214-T-G p.Glu55Asp missense AAMP 2 83258 2.40217E-5 41629 0 NA
2-219134220-C-T p.Glu53Glu synonymous AAMP 5 83234 6.00716E-5 41617 0 NA
2-219134221-T-C p.Glu53Gly missense AAMP 54 83224 6.48851E-4 41612 0 0.001875
2-219134228-C-A p.Asp51Tyr missense AAMP 3 83204 3.6056E-5 41602 0 6.3674E-5
2-219134241-C-T p.Glu46Glu synonymous AAMP 8 83102 9.62672E-5 41551 0 3.18431E-5
2-219134253-G-A p.Asp42Asp synonymous AAMP 1 82970 1.20525E-5 41485 0 NA
2-219134260-G-GGGTCCGGCGGACCGGGATCAAGTTCTACCACCTCGATAATCT c.122-1_122insAGATTATCGAGGTGGTAGAACTTGATCCCGGTCCGCCGGACC splice_acceptor AAMP 2 82820 2.41488E-5 41410 0 NA
2-219134272-G-C p.Pro17Arg missense AAMP 1 82526 1.21174E-5 41263 0 NA
2-219134299-G-C p.Thr8Ser missense AAMP 1 81354 1.2292E-5 40677 0 NA
2-219134305-G-T p.Pro6His missense AAMP 1 81144 1.23238E-5 40572 0 NA
2-219134311-G-C p.Ser4Cys missense AAMP 1 80948 1.23536E-5 40474 0 1.70407E-5
2-219134318-G-A p.Leu2Phe missense AAMP 4 80748 4.95368E-5 40374 0 NA
2-219134319-C-G p.Met1? start_lost AAMP 2 80702 2.47825E-5 40351 0 2.58389E-5
2-219134321-T-G p.Met1? initiator_codon AAMP 1 80638 1.24011E-5 40319 0 NA
2-219134321-T-C p.Met1? start_lost AAMP 3 80638 3.72033E-5 40319 0 1.61972E-5
2-219134357-G-C c.-36C>G 5_prime_UTR_premature_start_codon_gain AAMP 2 79026 2.53081E-5 39513 0 6.38385E-5
2-219134362-G-C c.-41C>G 5_prime_UTR_premature_start_codon_gain AAMP 1 78806 1.26894E-5 39403 0 2.16394E-5
2-219134373-CAG-C c.-18+7_-18+8delCT splice_region AAMP 14 77790 1.79972E-4 38895 1 NA
2-219134375-GAC-G c.-18+5_-18+6delGT splice_region AAMP 10 77626 1.28823E-4 38813 0 NA
2-219134414-G-A c.-93C>T 5_prime_UTR_premature_start_codon_gain AAMP 1 73106 1.36788E-5 36553 0 NA
2-219134423-C-T c.-102G>A 5_prime_UTR_premature_start_codon_gain AAMP 1 71866 1.39148E-5 35933 0 3.19101E-5
2-219134688-C-T c.121+1G>A splice_donor AAMP 1 82974 1.2052E-5 41487 0 NA
2-219134701-G-A p.Pro37Ser missense AAMP 1 83022 1.2045E-5 41511 0 NA
2-219134702-A-C p.Gly36Gly synonymous AAMP 4 82990 4.81986E-5 41495 0 1.59174E-5
2-219134726-G-A p.Ile28Ile synonymous AAMP 515 83144 0.00619407 41572 4 0.0126897
2-219134728-T-C p.Ile28Val missense AAMP 1 83162 1.20247E-5 41581 0 NA
2-219134739-T-C p.Asp24Gly missense AAMP 1 83176 1.20227E-5 41588 0 NA
2-219134740-C-T p.Asp24Asn missense AAMP 1 83182 1.20218E-5 41591 0 NA
2-219134752-T-C p.Ser20Gly missense AAMP 10 83196 1.20198E-4 41598 0 5.7771E-5
2-219134761-C-T p.Glu17Lys missense AAMP 1 83200 1.20192E-5 41600 0 NA
2-219134762-C-T p.Leu16Leu synonymous AAMP 34 83202 4.08644E-4 41601 0 0.00302115
2-219134763-A-G p.Leu16Pro missense AAMP 1 83188 1.2021E-5 41594 0 NA
2-219134764-G-C p.Leu16Val missense AAMP 1 83194 1.20201E-5 41597 0 NA
2-219134765-T-TG p.Leu16fs frameshift AAMP 1 83162 1.20247E-5 41581 0 2.89462E-4
2-219134766-G-T p.Pro15Gln missense AAMP 6 83194 7.21206E-5 41597 0 7.17824E-5
2-219134766-G-A p.Pro15Leu missense AAMP 1 83194 1.20201E-5 41597 0 3.31131E-5
2-219134766-G-C p.Pro15Arg missense AAMP 4 83194 4.80804E-5 41597 0 3.98791E-6
2-219134767-G-T p.Pro15Thr missense AAMP 2 83194 2.40402E-5 41597 0 4.37919E-5
2-219134767-G-C p.Pro15Ala missense AAMP 1 83194 1.20201E-5 41597 0 3.18715E-5
2-219134768-G-A p.Pro14Pro synonymous AAMP 1 83200 1.20192E-5 41600 0 5.03525E-4
2-219134768-G-C p.Pro14Pro synonymous AAMP 1 83198 1.20195E-5 41599 0 7.43458E-5
2-219134796-G-A p.Ser5Leu missense AAMP 1 83168 1.20239E-5 41584 0 3.98305E-6
2-219134802-G-T p.Ser3Tyr missense AAMP 2 83096 2.40685E-5 41548 0 3.98444E-6
2-219134805-T-G p.Glu2Ala missense AAMP 1 83082 1.20363E-5 41541 0 NA
2-219134812-G-A c.-3C>T 5_prime_UTR_premature_start_codon_gain AAMP 2 83030 2.40877E-5 41515 0 NA
2-219134821-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain AAMP 3 82988 3.61498E-5 41494 0 8.36036E-5
2-219134824-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain AAMP 1 82954 1.20549E-5 41477 0 8.37128E-6
2-219134856-G-C c.-47C>G 5_prime_UTR_premature_start_codon_gain AAMP 1 82154 1.21723E-5 41077 0 6.18873E-5
2-219134880-G-C c.-71C>G 5_prime_UTR_premature_start_codon_gain AAMP 2 81040 2.46792E-5 40520 0 6.36902E-5
2-219134920-G-A c.-111C>T 5_prime_UTR_premature_start_codon_gain AAMP 1 78360 1.27616E-5 39180 0 NA
2-219134932-G-A c.-123C>T 5_prime_UTR_premature_start_codon_gain AAMP 3 77268 3.88259E-5 38634 0 NA