Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-33476431-T-TAGGATGTGGCTTTGGAGA p.Phe227_Ser232dup conservative_inframe_insertion AK2 4 79614 5.02424E-5 39807 0 0.00166854
1-33476431-T-C p.Ter233Trpext*? stop_lost AK2 1 80356 1.24446E-5 40178 0 NA
1-33476432-A-AGGATGT p.Ser232_Ter233insThrSer conservative_inframe_insertion AK2 40 76376 5.23725E-4 38188 0 0.00452419
1-33476434-G-A p.Ser232Phe missense+splice_region AK2 1 80332 1.24483E-5 40166 0 3.18552E-5
1-33476435-C-CTTTGGAGAAGGCTGCTAGGGTGCT c.695-2_695-1insAGCACCCTAGCAGCCTTCTCCAAA splice_acceptor AK2 3 79618 3.76799E-5 39809 0 2.7137E-4
1-33476435-C-CTTTGGAGAAGGCTGCTAGGG c.695-2_695-1insCCCTAGCAGCCTTCTCCAAA splice_acceptor AK2 3 79502 3.77349E-5 39751 0 1.35685E-4
1-33476435-C-CTT c.695-2_695-1insAA splice_acceptor AK2 1 80152 1.24763E-5 40076 0 6.78426E-5
1-33476435-C-T c.695-1G>A splice_acceptor AK2 1 80180 1.24719E-5 40090 0 NA
1-33476436-T-TTTGGAGAAGGCTGCTAGG c.695-3_695-2insCCTAGCAGCCTTCTCCAA splice_region AK2 3 79754 3.76157E-5 39877 0 4.05861E-6
1-33476436-T-TTTGGAGAAG c.695-3_695-2insCTTCTCCAA splice_region AK2 8 80096 9.98801E-5 40048 0 3.57245E-5
1-33476436-T-TTTGGAGAAGGCTGCTAG c.695-3_695-2insCTAGCAGCCTTCTCCAA splice_region AK2 4 79862 5.00864E-5 39931 0 7.1449E-5
1-33476436-T-TTTGGA c.695-3_695-2insTCCAA splice_region AK2 7 80048 8.74475E-5 40024 0 4.5429E-4
1-33476436-T-TTTGGAGAAGGCTGCTAGGGTGCTTGC c.695-3_695-2insGCAAGCACCCTAGCAGCCTTCTCCAA splice_region AK2 1 79898 1.2516E-5 39949 0 1.89976E-4
1-33476436-T-TTTG c.695-3_695-2insCAA splice_region AK2 5 80122 6.24048E-5 40061 0 1.56937E-4
1-33476437-G-GCT c.695-4_695-3insAG splice_region AK2 3 80128 3.74401E-5 40064 0 3.30235E-5
1-33476441-T-C c.695-7A>G splice_region AK2 4 80100 4.99376E-5 40050 0 8.60733E-6
1-33478787-T-C p.Ile239Val missense AK2 1 83412 1.19887E-5 41706 0 6.37024E-5
1-33478788-A-T p.Phe238Leu missense AK2 2 83412 2.39774E-5 41706 0 3.29484E-5
1-33478792-A-G p.Met237Thr missense AK2 7 83414 8.39188E-5 41707 0 2.47113E-5
1-33478795-A-G p.Val236Ala missense AK2 1 83414 1.19884E-5 41707 0 NA
1-33478809-T-C p.Thr231Thr splice_region+synonymous AK2 1 83416 1.19881E-5 41708 0 8.23642E-6
1-33478819-G-T p.Ser228Tyr missense AK2 1 83426 1.19867E-5 41713 0 8.23655E-6
1-33478832-G-C p.Leu224Val missense AK2 1 83430 1.19861E-5 41715 0 3.18451E-5
1-33478833-G-C p.Ile223Met missense AK2 1 83430 1.19861E-5 41715 0 NA
1-33478834-A-G p.Ile223Thr missense AK2 3 83252 3.60352E-5 41626 0 0.00125
1-33478836-G-A p.Ser222Ser synonymous AK2 1 83430 1.19861E-5 41715 0 NA
1-33478842-G-A p.Phe220Phe synonymous AK2 5 83422 5.99362E-5 41711 0 6.36983E-5
1-33478847-C-T p.Val219Met missense AK2 6 83424 7.19217E-5 41712 0 6.37146E-5
1-33478848-G-A p.Val218Val synonymous AK2 6 83430 7.19166E-5 41715 0 6.36983E-5
1-33478852-T-C p.Asp217Gly missense AK2 1 83436 1.19852E-5 41718 0 8.23642E-6
1-33478854-G-A p.Pro216Pro synonymous AK2 12 82846 1.44847E-4 41423 0 0.004375
1-33478860-C-T p.Gln214Gln synonymous AK2 57 83436 6.83158E-4 41718 0 0.00283566
1-33478864-G-T p.Ser213Tyr missense AK2 2 83440 2.39693E-5 41720 0 3.18451E-5
1-33478868-C-T p.Ala212Thr missense AK2 3 83436 3.59557E-5 41718 0 NA
1-33478871-C-T p.Asp211Asn missense AK2 14 83436 1.67793E-4 41718 0 6.58924E-4
1-33478872-G-A p.Ile210Ile synonymous AK2 132 79350 0.00166352 39675 0 0.0175
1-33478877-C-T p.Ala209Thr missense AK2 704 83414 0.00843983 41707 0 0.00738843
1-33478878-G-A p.Ser208Ser synonymous AK2 211 78740 0.00267971 39370 0 0.025625
1-33478883-G-T p.His207Asn missense AK2 1 83444 1.19841E-5 41722 0 NA
1-33478886-T-TC p.Ile206fs frameshift AK2 1 83446 1.19838E-5 41723 0 NA
1-33478887-C-G p.Gly205Gly synonymous AK2 8 83450 9.58658E-5 41725 0 4.37473E-5
1-33478888-C-T p.Gly205Glu missense AK2 245 77446 0.00316349 38723 0 0.040625
1-33478890-C-T p.Arg204Arg synonymous AK2 1 83450 1.19832E-5 41725 0 3.29457E-5
1-33478891-C-T p.Arg204Gln missense AK2 1 83452 1.19829E-5 41726 0 3.50296E-4
1-33478892-G-A p.Arg204Trp missense AK2 5 83452 5.99147E-5 41726 0 5.03525E-4
1-33478899-G-A p.Tyr201Tyr synonymous AK2 50 83448 5.99176E-4 41724 0 5.03525E-4
1-33478900-T-A p.Tyr201Phe missense AK2 220 78632 0.00279784 39316 0 0.29003
1-33478905-C-T p.Glu199Glu synonymous AK2 53 83454 6.3508E-4 41727 0 0.00151057
1-33478909-A-G p.Ile198Thr missense AK2 2 83454 2.39653E-5 41727 0 NA
1-33478920-G-A p.Thr194Thr synonymous AK2 348 77352 0.00449891 38676 0 0.413897
1-33478928-T-C p.Thr192Ala missense AK2 1 83450 1.19832E-5 41725 0 8.23669E-6
1-33478931-G-C p.His191Asp missense AK2 296 77394 0.00382459 38697 0 0.418429
1-33478943-G-A p.Leu187Leu synonymous AK2 1 83446 1.19838E-5 41723 0 NA
1-33478945-C-T p.Arg186His missense AK2 1 83438 1.19849E-5 41719 0 5.76597E-5
1-33478946-G-A p.Arg186Cys missense AK2 1 83440 1.19847E-5 41720 0 2.47113E-5
1-33478959-C-G p.Lys181Asn missense AK2 367 77578 0.00473072 38789 0 0.436052
1-33478981-C-T p.Arg174His missense AK2 1 83332 1.20002E-5 41666 0 0.00125
1-33478983-G-A p.Ile173Ile synonymous AK2 223 79084 0.00281979 39542 0 0.443605
1-33478994-C-T p.Glu170Lys missense AK2 3 83262 3.60308E-5 41631 0 3.18512E-5
1-33478995-C-T p.Gly169Gly synonymous AK2 1 83260 1.20106E-5 41630 0 NA
1-33478998-G-A p.Thr168Thr synonymous AK2 10 83222 1.20161E-4 41611 0 2.14711E-4
1-33479001-G-GATGTC p.Ile167fs frameshift AK2 7 82922 8.44167E-5 41461 0 4.00827E-6
1-33479002-A-ATG p.Ile167fs frameshift AK2 4 83030 4.81754E-5 41515 0 NA
1-33479002-A-ATGTCATCTTTCATGGGC p.Ile167fs frameshift AK2 1 83120 1.20308E-5 41560 0 NA
1-33479003-T-TGTCATCTTTCATGGG c.499-1_499insCCCATGAAAGATGAC splice_acceptor AK2 1 83124 1.20302E-5 41562 0 NA
1-33479004-C-CATCTTTCA c.499-2_499-1insTGAAAGAT splice_acceptor AK2 4 83050 4.81638E-5 41525 0 NA
1-33479004-C-CATCTTTCATGGGCTCTTT c.499-2_499-1insAAAGAGCCCATGAAAGAT splice_acceptor AK2 1 83088 1.20354E-5 41544 0 NA
1-33479011-C-A c.499-8G>T splice_region AK2 3 83102 3.61002E-5 41551 0 1.91453E-4
1-33479966-C-T n.423G>A splice_region AK2 1 57362 1.74331E-5 28681 0 NA
1-33479967-A-C n.422T>G splice_region AK2 4 57774 6.92353E-5 28887 0 1.91071E-4
1-33480130-T-C p.Lys164Arg missense AK2 1 83360 1.19962E-5 41680 0 6.25E-4
1-33480133-A-C p.Met163Arg missense AK2 1 83360 1.19962E-5 41680 0 NA
1-33480133-A-G p.Met163Thr missense AK2 1 83360 1.19962E-5 41680 0 3.97649E-6
1-33480134-T-C p.Met163Val missense AK2 1 83366 1.19953E-5 41683 0 3.97659E-6
1-33480149-G-A p.Pro158Ser missense AK2 2 83380 2.39866E-5 41690 0 0.00100705
1-33480150-G-C p.Asn157Lys missense AK2 3 83370 3.59842E-5 41685 0 8.23778E-6
1-33480150-G-A p.Pro126Ser missense AK2 3 83370 3.59842E-5 41685 0 6.37064E-5
1-33480151-T-C p.Asn157Ser missense AK2 3 83364 3.59868E-5 41682 0 1.98821E-5
1-33480161-C-T p.Glu154Lys missense AK2 114 83360 0.00136756 41680 0 0.00181529
1-33480162-G-A p.Arg122* stop_gained AK2 1 83358 1.19964E-5 41679 0 3.18451E-5
1-33480164-G-C p.His153Asp missense AK2 1 83360 1.19962E-5 41680 0 NA
1-33480172-C-T p.Arg150His missense AK2 8 83366 9.59624E-5 41683 0 6.76041E-5
1-33480173-G-C p.Arg150Gly missense AK2 4 83356 4.79869E-5 41678 0 8.23832E-6
1-33480173-G-A p.Arg150Cys missense AK2 2 83356 2.39935E-5 41678 0 8.23832E-6
1-33480178-C-G p.Ser148Thr missense AK2 2 83352 2.39946E-5 41676 1 NA
1-33480183-G-A p.Gln115* stop_gained AK2 1 83356 1.19967E-5 41678 0 NA
1-33480184-G-T p.Pro146His missense AK2 1 83348 1.19979E-5 41674 0 NA
1-33480192-C-G p.Asp112His missense AK2 4 83334 4.79996E-5 41667 0 1.23593E-4
1-33485285-T-C c.*414A>G splice_region AK2 2 25080 7.97448E-5 12540 0 3.50318E-4
1-33485705-C-T p.Leu161Leu synonymous AK2 1 33268 3.00589E-5 16634 0 3.18593E-5
1-33485729-G-A p.His153His synonymous AK2 1 33266 3.00607E-5 16633 0 7.80945E-6
1-33485731-G-C p.His153Asp missense AK2 1 33268 3.00589E-5 16634 0 7.81104E-6
1-33486971-C-G p.Gly141Ala missense AK2 1 82756 1.20837E-5 41378 0 5.17318E-5
1-33487001-G-A p.Pro131Leu missense AK2 1 82966 1.20531E-5 41483 0 NA
1-33487007-C-T p.Ser129Asn missense AK2 376 82950 0.00453285 41475 0 0.006875
1-33487017-T-C p.Ile126Val missense AK2 1 82978 1.20514E-5 41489 0 NA
1-33487030-CT-C p.Lys121fs frameshift AK2 4 83016 4.81835E-5 41508 0 NA
1-33487044-T-C p.Lys117Glu missense AK2 4 83038 4.81707E-5 41519 0 1.98943E-5
1-33487050-T-G p.Met115Leu missense AK2 3 83044 3.61254E-5 41522 0 6.36862E-5
1-33487050-T-A p.Met115Leu missense AK2 2 83042 2.40842E-5 41521 0 0.0025
1-33487058-T-C p.Asp112Gly missense AK2 4 83050 4.81638E-5 41525 0 NA
1-33487060-G-A p.Leu111Leu splice_region+synonymous AK2 14 83048 1.68577E-4 41524 0 8.75517E-5
1-33487186-C-G c.330+8G>C splice_region AK2 14 83264 1.6814E-4 41632 0 0.005
1-33487215-C-G p.Arg103Arg synonymous AK2 1 83298 1.20051E-5 41649 0 NA
1-33487215-C-A p.Arg103Arg synonymous AK2 1 83298 1.20051E-5 41649 0 2.4768E-5
1-33487217-G-T p.Arg103Arg synonymous AK2 1 83298 1.20051E-5 41649 0 7.95615E-6
1-33487256-G-A p.Pro90Ser missense AK2 2 83298 2.40102E-5 41649 0 3.97712E-6
1-33487260-C-G p.Glu88Asp missense AK2 2 83292 2.40119E-5 41646 0 NA
1-33487262-C-T p.Glu88Lys missense AK2 1 83286 1.20068E-5 41643 0 3.18492E-5
1-33487269-C-T p.Lys85Lys synonymous AK2 106 83266 0.00127303 41633 0 0.00101904
1-33487269-C-A p.Lys85Asn missense AK2 1 83274 1.20085E-5 41637 0 NA
1-33487277-T-C p.Ile83Val missense AK2 49 83254 5.8856E-4 41627 0 5.03525E-4
1-33487284-C-G p.Val80Val synonymous AK2 2 83222 2.40321E-5 41611 0 NA
1-33487286-C-T p.Val80Met missense AK2 2 83222 2.40321E-5 41611 0 NA
1-33487295-C-T p.Glu77Lys missense AK2 5 83178 6.0112E-5 41589 0 9.55414E-5
1-33487300-C-A p.Ser75Ile missense AK2 29 83160 3.48725E-4 41580 1 3.18431E-4
1-33487305-C-CT c.220-2_220-1insA splice_acceptor AK2 1 83130 1.20294E-5 41565 0 NA
1-33487308-GA-G c.220-5delT splice_region AK2 2 83110 2.40645E-5 41555 0 8.34808E-6
1-33490057-C-T p.Asp69Asn missense AK2 3 82812 3.62266E-5 41406 0 1.64731E-5
1-33490059-A-G p.Met68Thr missense AK2 1 82860 1.20685E-5 41430 0 NA
1-33490060-T-C p.Met68Val missense AK2 14 82874 1.68931E-4 41437 0 7.82473E-4
1-33490063-T-C p.Thr67Ala missense AK2 1 82922 1.20595E-5 41461 0 2.47101E-5
1-33490091-G-T p.Gly57Gly synonymous AK2 9 83274 1.08077E-4 41637 0 9.14833E-5
1-33490099-C-A p.Ala55Ser missense AK2 2 83298 2.40102E-5 41649 0 NA
1-33490100-C-T p.Val54Val synonymous AK2 1 83296 1.20054E-5 41648 0 3.97722E-6
1-33490103-C-T p.Met53Ile missense AK2 2 83316 2.4005E-5 41658 0 8.24035E-6
1-33490105-T-C p.Met53Val missense AK2 2 83318 2.40044E-5 41659 0 3.97747E-6
1-33490107-G-A p.Ala52Val missense AK2 1 83306 1.20039E-5 41653 0 NA
1-33490114-G-C p.Leu50Val missense AK2 2 83294 2.40113E-5 41647 0 1.19328E-5
1-33490122-C-T p.Gly47Glu missense AK2 1 83284 1.20071E-5 41642 0 NA
1-33490128-G-T p.Ala45Asp missense AK2 1 83272 1.20088E-5 41636 0 NA
1-33490133-A-C p.His43Gln missense AK2 1 83252 1.20117E-5 41626 0 NA
1-33490144-A-G p.Cys40Arg missense AK2 1 83244 1.20129E-5 41622 0 NA
1-33490157-C-T p.Leu35Leu synonymous AK2 2 83172 2.40466E-5 41586 0 NA
1-33490168-C-T p.Ala32Thr missense+splice_region AK2 4 83120 4.81232E-5 41560 0 7.44639E-5
1-33497139-T-C n.307+6A>G splice_region AK2 1 8048 1.24254E-4 4024 0 2.8626E-4
1-33502345-C-CT p.Gly29fs frameshift AK2 1 80268 1.24583E-5 40134 0 NA
1-33502360-G-C p.Pro24Ala missense AK2 1 80528 1.2418E-5 40264 0 NA
1-33502373-C-T p.Val19Val synonymous AK2 5 80706 6.19533E-5 40353 0 6.33714E-4
1-33502376-G-A p.Ala18Ala synonymous AK2 4 80606 4.96241E-5 40303 0 0.0936864
1-33502381-G-C p.Arg17Gly missense AK2 76 80810 9.40478E-4 40405 0 0.00235423
1-33502394-A-G p.Tyr12Tyr synonymous AK2 1 80866 1.23661E-5 40433 0 4.43522E-6
1-33502405-C-T p.Glu9Lys missense AK2 7 80814 8.66187E-5 40407 0 0.00324254
1-33502410-G-A p.Ala7Val missense AK2 1 80760 1.23824E-5 40380 0 4.63985E-6
1-33502421-G-A p.Pro3Pro synonymous AK2 1 80786 1.23784E-5 40393 0 NA
1-33502425-G-A p.Ala2Val missense AK2 1 80710 1.239E-5 40355 0 4.77254E-6
1-33502427-C-T p.Met1? start_lost AK2 1 80690 1.23931E-5 40345 0 3.18613E-5
1-33502433-C-A c.-4G>T 5_prime_UTR_premature_start_codon_gain AK2 122 80618 0.00151331 40309 1 0.00312281
1-33502494-A-T c.-65T>A 5_prime_UTR_premature_start_codon_gain AK2 2 77474 2.58151E-5 38737 0 1.28441E-5
1-33502512-C-T c.-83G>A 5_prime_UTR_premature_start_codon_gain AK2 1 75260 1.32873E-5 37630 0 NA
1-33502519-C-T c.-90G>A 5_prime_UTR_premature_start_codon_gain AK2 3 74656 4.01843E-5 37328 0 3.1839E-5
1-33502547-G-A c.-118C>T 5_prime_UTR_premature_start_codon_gain AK2 1 70652 1.41539E-5 35326 0 NA