Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-159032274-T-C c.*208A>G splice_region AIM2 2 61782 3.23719E-5 30891 0 6.37308E-5
1-159032484-A-C p.Ter344Gluext*? stop_lost AIM2 409 82990 0.0049283 41495 2 0.0108902
1-159032486-GT-G p.Thr343fs frameshift AIM2 315 82704 0.00380876 41352 1 0.0271343
1-159032486-G-GT p.Thr343fs frameshift AIM2 159 80602 0.00197266 40301 1 0.028852
1-159032487-T-G p.Thr343Pro missense AIM2 1 82944 1.20563E-5 41472 0 1.67695E-5
1-159032488-T-A p.Lys342Asn missense AIM2 1 83028 1.20441E-5 41514 0 NA
1-159032489-T-A p.Lys342Ile missense AIM2 1 83038 1.20427E-5 41519 0 NA
1-159032494-T-C p.Lys340Lys synonymous AIM2 1 82978 1.20514E-5 41489 0 3.98206E-6
1-159032498-G-T p.Ala339Asp missense AIM2 1 82898 1.2063E-5 41449 0 0.00375704
1-159032509-C-CT c.1006-2_1006-1insA splice_acceptor AIM2 1 82882 1.20653E-5 41441 0 1.07877E-4
1-159032514-T-G c.1006-6A>C splice_region AIM2 1 82774 1.20811E-5 41387 0 NA
1-159032516-G-A c.1006-8C>T splice_region AIM2 1 82802 1.2077E-5 41401 0 2.01807E-5
1-159033274-A-T c.1005+2T>A splice_donor AIM2 3 83336 3.59988E-5 41668 0 6.25E-4
1-159033280-A-T p.Ile334Lys missense AIM2 1 83352 1.19973E-5 41676 0 NA
1-159033300-T-G p.Thr327Thr synonymous AIM2 2 83370 2.39894E-5 41685 0 2.48196E-5
1-159033304-A-C p.Leu326Arg missense AIM2 1 83368 1.1995E-5 41684 0 NA
1-159033321-A-G p.Asn320Asn synonymous AIM2 4 83372 4.79777E-5 41686 0 NA
1-159033331-A-T p.Leu317Gln missense AIM2 1 83364 1.19956E-5 41682 0 1.19402E-5
1-159033344-T-G p.Thr313Pro missense AIM2 1 83374 1.19941E-5 41687 0 8.239E-6
1-159033349-C-T p.Arg311Gln missense AIM2 2 83372 2.39889E-5 41686 0 1.989E-5
1-159033356-T-C p.Lys309Glu missense AIM2 1 83374 1.19941E-5 41687 0 3.97747E-6
1-159033360-T-G p.Gly307Gly synonymous AIM2 1 83376 1.19939E-5 41688 0 NA
1-159033370-C-T p.Cys167Tyr missense+splice_region AIM2 4 83372 4.79777E-5 41686 0 1.64753E-5
1-159033377-T-C p.Met165Val missense AIM2 3 83376 3.59816E-5 41688 0 1.23565E-4
1-159033378-T-C p.Thr164Thr synonymous AIM2 10 83376 1.19939E-4 41688 0 0.00100908
1-159033380-T-C p.Thr164Ala missense AIM2 1 83374 1.19941E-5 41687 0 NA
1-159033386-C-T p.Glu162Lys missense AIM2 4 83370 4.79789E-5 41685 0 5.04541E-4
1-159033387-G-A p.Asn161Asn synonymous AIM2 2 83368 2.399E-5 41684 0 0.001875
1-159033406-T-C p.Glu155Gly missense AIM2 1 83348 1.19979E-5 41674 0 1.64758E-5
1-159033413-T-C p.Lys153Glu missense AIM2 1 83344 1.19985E-5 41672 0 NA
1-159033418-GT-G p.Thr151fs frameshift AIM2 3 83346 3.59945E-5 41673 0 3.18634E-5
1-159033431-G-A p.Leu147Leu synonymous AIM2 1 83332 1.20002E-5 41666 0 NA
1-159033439-AAT-A p.Leu144fs frameshift AIM2 5 83324 6.00067E-5 41662 0 1.27348E-4
1-159033441-TA-AG p.Ile143Thr missense AIM2 5 83320 6.00096E-5 41660 0 NA
1-159033447-TTTC-T p.Lys141del disruptive_inframe_deletion AIM2 3 83302 3.60135E-5 41651 0 1.65519E-5
1-159035696-T-C c.405+4A>G splice_region AIM2 1 83032 1.20435E-5 41516 0 NA
1-159035708-C-T p.Val133Ile missense AIM2 2 83138 2.40564E-5 41569 0 1.46719E-4
1-159035719-C-T p.Gly129Asp missense AIM2 1 83258 1.20109E-5 41629 0 NA
1-159035720-C-G p.Gly129Arg missense AIM2 1 83260 1.20106E-5 41630 0 3.18613E-5
1-159035721-A-G p.Asn128Asn synonymous AIM2 112 83274 0.00134496 41637 0 0.00226158
1-159035731-G-C p.Thr125Arg missense AIM2 1 83324 1.20013E-5 41662 0 1.00082E-4
1-159035734-C-T p.Gly124Glu missense AIM2 1 83338 1.19993E-5 41669 0 1.59605E-5
1-159035740-G-T p.Pro122His missense AIM2 1 83348 1.19979E-5 41674 0 8.28761E-6
1-159035746-G-A p.Thr120Ile missense AIM2 1 83366 1.19953E-5 41683 0 NA
1-159035755-G-A p.Thr117Met missense AIM2 5 83374 5.99707E-5 41687 0 0.00100705
1-159035758-T-C p.Asn116Ser missense AIM2 1 83378 1.19936E-5 41689 0 NA
1-159035766-C-A p.Pro113Pro synonymous AIM2 303 83372 0.00363431 41686 2 0.00852436
1-159035766-C-T p.Pro113Pro synonymous AIM2 4 83378 4.79743E-5 41689 1 3.98324E-5
1-159035767-G-A p.Pro113Leu missense AIM2 4 83378 4.79743E-5 41689 0 8.24348E-6
1-159035774-C-T p.Glu111Lys missense AIM2 1 83376 1.19939E-5 41688 0 NA
1-159035780-C-G p.Ala109Pro missense AIM2 1 83384 1.19927E-5 41692 0 NA
1-159035787-G-C p.Ile106Met missense AIM2 1 83386 1.19924E-5 41693 0 3.97716E-6
1-159035789-T-A p.Ile106Phe missense AIM2 8 83388 9.59371E-5 41694 0 3.78931E-4
1-159035799-C-T p.Pro102Pro synonymous AIM2 22 83390 2.63821E-4 41695 1 0.003125
1-159035800-G-A p.Pro102Leu missense AIM2 10 83392 1.19916E-4 41696 0 0.00100705
1-159035806-T-C p.Asn100Ser missense AIM2 2 83396 2.3982E-5 41698 0 3.97706E-6
1-159035824-T-A p.Glu94Val missense AIM2 2 83390 2.39837E-5 41695 0 NA
1-159035825-C-T p.Glu94Lys missense AIM2 9 83390 1.07927E-4 41695 0 9.55292E-5
1-159035837-C-T p.Val90Met missense AIM2 1 83390 1.19918E-5 41695 0 1.64745E-5
1-159035839-C-T p.Arg89His missense AIM2 11 83388 1.31913E-4 41694 0 1.2738E-4
1-159035839-C-A p.Arg89Leu missense AIM2 1 83388 1.19921E-5 41694 0 6.36902E-5
1-159035840-G-A p.Arg89Cys missense AIM2 2 83388 2.39843E-5 41694 0 3.18451E-5
1-159035840-G-C p.Arg89Gly missense AIM2 1 83388 1.19921E-5 41694 0 NA
1-159035847-G-A p.Ser86Ser synonymous AIM2 4 83392 4.79662E-5 41696 0 1.59256E-4
1-159035856-C-T p.Glu83Glu synonymous AIM2 1 83394 1.19913E-5 41697 0 NA
1-159035860-A-C p.Leu82* stop_gained AIM2 2 83400 2.39808E-5 41700 0 NA
1-159035875-C-T p.Arg77Gln missense AIM2 5 83388 5.99607E-5 41694 0 6.25E-4
1-159035876-G-A p.Arg77Trp missense AIM2 3 83390 3.59755E-5 41695 0 NA
1-159035888-C-T p.Ala73Thr missense AIM2 1 83372 1.19944E-5 41686 0 NA
1-159035936-T-C p.Asn57Asp missense AIM2 3 83340 3.59971E-5 41670 0 3.2969E-5
1-159035958-T-G p.Glu49Asp missense AIM2 27 83334 3.23997E-4 41667 0 0.00151057
1-159035965-T-C p.Glu47Gly missense AIM2 4 83344 4.79939E-5 41672 0 2.38648E-5
1-159035968-G-A p.Thr46Ile missense AIM2 3 83346 3.59945E-5 41673 0 6.60906E-5
1-159035983-T-C p.His41Arg missense AIM2 3 83350 3.59928E-5 41675 0 7.55641E-5
1-159035985-A-C p.Phe40Leu missense AIM2 1 83354 1.1997E-5 41677 0 NA
1-159035996-G-C p.Gln37Glu missense AIM2 1 83354 1.1997E-5 41677 0 NA
1-159036011-TCTCAAACGTGAAGGG-T p.Pro27_Glu31del conservative_inframe_deletion AIM2 3 83360 3.59885E-5 41680 0 NA
1-159036018-C-T p.Thr29Thr synonymous AIM2 4 83368 4.798E-5 41684 0 1.15399E-4
1-159036033-T-C p.Ala24Ala synonymous AIM2 1 83356 1.19967E-5 41678 0 NA
1-159036050-C-G p.Val19Leu missense AIM2 1 83360 1.19962E-5 41680 0 NA
1-159036051-T-C p.Pro18Pro synonymous AIM2 3 83360 3.59885E-5 41680 0 6.3678E-5
1-159036053-G-T p.Pro18Thr missense AIM2 1 83358 1.19964E-5 41679 0 3.9782E-6
1-159036059-A-G p.Cys16Arg missense AIM2 1 83348 1.19979E-5 41674 0 NA
1-159036061-C-T p.Arg15His missense AIM2 4 83352 4.79893E-5 41676 0 1.65199E-5
1-159036063-C-T p.Lys14Lys synonymous AIM2 2 83356 2.39935E-5 41678 0 3.97981E-6
1-159036068-G-C p.Gln13Glu missense AIM2 2 83354 2.3994E-5 41677 0 7.96204E-6
1-159036087-T-G p.Glu6Asp missense AIM2 2 83322 2.40033E-5 41661 0 1.19903E-5
1-159036122-GAAGAC-G c.-15-8_-15-4delGTCTT splice_region AIM2 2 83234 2.40286E-5 41617 0 8.55578E-6
1-159036127-C-G c.-15-8G>C splice_region AIM2 2 83206 2.40367E-5 41603 0 1.17083E-4
1-159038352-T-A c.396+6A>T splice_region AIM2 300 83220 0.0036049 41610 3 0.00812102
1-159038357-C-T c.396+1G>A splice_donor AIM2 2 83232 2.40292E-5 41616 0 1.20809E-5
1-159038366-G-T p.His130Asn missense AIM2 1 83270 1.20091E-5 41635 0 1.64908E-5
1-159038368-G-A p.Pro129Leu missense AIM2 1 83268 1.20094E-5 41634 0 3.18471E-5
1-159038375-CT-C p.Val127fs frameshift AIM2 5 83282 6.0037E-5 41641 0 3.29669E-5
1-159038375-C-A p.Val127Phe missense AIM2 1 83282 1.20074E-5 41641 0 1.40073E-4
1-159038378-T-C p.Lys126Glu missense AIM2 14 83280 1.68108E-4 41640 0 5.07099E-4
1-159038382-T-G p.Ala124Ala synonymous AIM2 1 83294 1.20057E-5 41647 0 3.98705E-6
1-159038390-G-A p.Arg122Cys missense AIM2 1 83298 1.20051E-5 41649 0 3.18451E-5
1-159038398-G-A p.Ala119Val missense AIM2 1 83302 1.20045E-5 41651 0 NA
1-159038399-C-T p.Ala119Thr missense AIM2 2 83296 2.40108E-5 41648 0 3.98457E-6
1-159038400-G-A p.Val118Val synonymous AIM2 2 83302 2.4009E-5 41651 0 6.25E-4
1-159038451-T-C p.Leu101Leu synonymous AIM2 1 83288 1.20065E-5 41644 0 NA
1-159038470-A-T p.Val95Glu missense AIM2 1 83232 1.20146E-5 41616 0 NA
1-159038473-G-A p.Ser94Leu missense AIM2 2 83222 2.40321E-5 41611 0 7.96844E-6
1-159038479-T-C p.Tyr92Cys missense AIM2 1 83212 1.20175E-5 41606 0 NA
1-159038489-C-T p.Asp89Asn missense+splice_region AIM2 3 83148 3.60802E-5 41574 0 3.99476E-6
1-159038493-T-C c.263-2A>G splice_acceptor AIM2 1 83126 1.20299E-5 41563 0 NA
1-159038496-T-G c.263-5A>C splice_region AIM2 9 83072 1.0834E-4 41536 0 1.64834E-5
1-159043022-C-CATT c.262+5_262+6insAAT splice_region AIM2 1 82844 1.20709E-5 41422 0 6.37862E-5
1-159043041-C-T p.Glu83Glu synonymous AIM2 892 82948 0.0107537 41474 28 0.0478348
1-159043046-G-A p.Gln82* stop_gained AIM2 4 83026 4.81777E-5 41513 0 6.37064E-5
1-159043050-A-T p.Arg80Arg synonymous AIM2 1 83044 1.20418E-5 41522 0 NA
1-159043051-C-T p.Arg80His missense AIM2 3 83046 3.61246E-5 41523 0 3.97988E-6
1-159043052-G-A p.Arg80Cys missense AIM2 1 83076 1.20372E-5 41538 0 3.18471E-5
1-159043067-T-C p.Met75Val missense AIM2 1 83174 1.2023E-5 41587 0 NA
1-159043068-A-G p.Tyr74Tyr synonymous AIM2 2 83190 2.40414E-5 41595 0 8.2511E-6
1-159043076-A-G p.Leu72Leu synonymous AIM2 9 83208 1.08163E-4 41604 0 5.56988E-5
1-159043090-C-T p.Arg67His missense AIM2 2 83236 2.40281E-5 41618 0 1.19352E-5
1-159043091-G-A p.Arg67Cys missense AIM2 1 83242 1.20132E-5 41621 0 6.25E-4
1-159043091-G-C p.Arg67Gly missense AIM2 2 83242 2.40263E-5 41621 0 1.27372E-4
1-159043117-G-A p.Ala58Val missense AIM2 1 83250 1.2012E-5 41625 0 1.98929E-5
1-159043135-A-G p.Met52Thr missense AIM2 1 83252 1.20117E-5 41626 0 3.97801E-6
1-159043139-A-C p.Leu51Val missense AIM2 1 83250 1.2012E-5 41625 0 3.18251E-5
1-159043154-TTC-T p.Arg45fs frameshift AIM2 1 83248 1.20123E-5 41624 0 5.03525E-4
1-159043179-T-G p.Thr37Thr synonymous AIM2 1 83254 1.20114E-5 41627 0 NA
1-159043187-T-C p.Ile35Val missense AIM2 1 83250 1.2012E-5 41625 0 NA
1-159043196-C-T p.Glu32Lys missense AIM2 954 83220 0.0114636 41610 18 0.0287009
1-159043197-G-A p.Asp31Asp synonymous AIM2 6 83232 7.20877E-5 41616 0 1.64818E-5
1-159043218-C-A p.Arg24Ser missense AIM2 1 83200 1.20192E-5 41600 0 6.37064E-5
1-159043229-C-T p.Glu21Lys missense AIM2 3 83156 3.60768E-5 41578 0 1.71083E-4
1-159043239-G-C p.Ile17Met missense AIM2 2 83106 2.40657E-5 41553 0 NA
1-159043242-G-GTTA p.Asn16dup disruptive_inframe_insertion AIM2 1 83080 1.20366E-5 41540 0 NA
1-159043266-T-C p.Ile8Met missense AIM2 8 82796 9.6623E-5 41398 0 6.77582E-5
1-159043267-A-G p.Ile8Thr missense AIM2 2 82764 2.41651E-5 41382 0 NA
1-159043315-A-G c.-20-6T>C splice_region AIM2 2 81462 2.45513E-5 40731 0 9.55231E-5
1-159046422-C-A c.-21+1G>T splice_donor AIM2 1 2956 3.38295E-4 1478 0 NA
1-159116801-T-C n.86A>G splice_region AIM2 11 12 0.916667 6 5 0.898553