Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-71873894-C-T c.*33+7G>A splice_region AIFM2 4 81904 4.88377E-5 40952 0 6.25E-4
10-71873895-G-A c.*33+6C>T splice_region AIFM2 6 81886 7.32726E-5 40943 0 1.02256E-4
10-71873898-C-T c.*33+3G>A splice_region AIFM2 2 82072 2.43688E-5 41036 0 5.1069E-5
10-71873956-G-GT p.Thr367fs frameshift AIFM2 2 82908 2.41231E-5 41454 0 NA
10-71873967-C-T p.Thr363Thr synonymous AIFM2 1 82914 1.20607E-5 41457 0 3.31235E-5
10-71873968-G-A p.Thr363Met missense AIFM2 6 82896 7.23799E-5 41448 0 0.00125
10-71873975-C-T p.Val361Ile missense AIFM2 3 82948 3.61672E-5 41474 0 2.78791E-5
10-71873976-G-A p.Phe360Phe synonymous AIFM2 8 82960 9.6432E-5 41480 0 2.23172E-4
10-71873981-G-C p.Leu359Val missense AIFM2 3 82916 3.61812E-5 41458 0 NA
10-71873984-C-T p.Asp358Asn missense AIFM2 1 82914 1.20607E-5 41457 0 NA
10-71873986-C-T p.Arg357Gln missense AIFM2 4 82862 4.8273E-5 41431 0 3.30759E-5
10-71873999-G-T p.Leu353Met missense AIFM2 4 82854 4.82777E-5 41427 0 1.65284E-5
10-71874001-C-T p.Arg352Gln missense AIFM2 1 82872 1.20668E-5 41436 0 3.30513E-5
10-71874002-G-T p.Arg352Arg synonymous AIFM2 1 82884 1.20651E-5 41442 0 2.4786E-5
10-71874002-G-A p.Arg352Trp missense AIFM2 1 82884 1.20651E-5 41442 0 6.25E-4
10-71874007-A-G p.Met350Thr missense AIFM2 1 82960 1.2054E-5 41480 0 7.9576E-6
10-71874008-T-G p.Met350Leu missense AIFM2 1 82926 1.20589E-5 41463 0 3.19122E-5
10-71874013-C-T p.Arg348Gln missense AIFM2 6 82922 7.23572E-5 41461 0 5.03525E-4
10-71874015-G-A p.Gly347Gly synonymous AIFM2 1 82932 1.20581E-5 41466 0 2.47746E-5
10-71874024-G-A p.Phe344Phe synonymous AIFM2 1 83016 1.20459E-5 41508 0 NA
10-71874030-A-G p.Ser342Ser synonymous AIFM2 2 83052 2.40813E-5 41526 0 2.47582E-5
10-71874047-C-T p.Gly337Ser missense AIFM2 2 83014 2.40923E-5 41507 0 3.19101E-5
10-71874047-CG-TA p.AspGly336AspSer missense AIFM2 1 83016 1.20459E-5 41508 0 NA
10-71874048-G-A p.Asp336Asp synonymous AIFM2 10000 82748 0.120849 41374 766 0.232125
10-71874057-C-G p.Gly333Gly synonymous AIFM2 1 83002 1.20479E-5 41501 0 NA
10-71874057-C-T p.Gly333Gly synonymous AIFM2 1 83002 1.20479E-5 41501 0 8.25164E-6
10-71874059-C-A p.Gly333Trp missense AIFM2 1 82998 1.20485E-5 41499 0 NA
10-71874063-G-A p.Ser331Ser synonymous AIFM2 1 82962 1.20537E-5 41481 0 3.18959E-5
10-71874075-C-T p.Thr327Thr synonymous AIFM2 2 82860 2.41371E-5 41430 0 6.37552E-5
10-71874076-G-A p.Thr327Met missense AIFM2 2 82838 2.41435E-5 41419 0 5.03525E-4
10-71874085-C-T p.Gly324Asp missense+splice_region AIFM2 38 82694 4.59525E-4 41347 0 3.18695E-4
10-71874086-C-CCGGCTTGTAGGCCTGGAGAGGCCGCTGCT c.971-2_971-1insAGCAGCGGCCTCTCCAGGCCTACAAGCCG splice_acceptor AIFM2 1 82698 1.20922E-5 41349 0 NA
10-71874092-G-A c.971-7C>T splice_region AIFM2 1 82584 1.21089E-5 41292 0 1.19583E-5
10-71874678-G-A p.Pro323Leu missense+splice_region AIFM2 2 82974 2.41039E-5 41487 0 9.55292E-5
10-71874683-G-A p.Tyr321Tyr synonymous AIFM2 7874 82670 0.0952462 41335 516 0.103448
10-71874697-G-C p.Pro317Ala missense AIFM2 2 83078 2.40738E-5 41539 0 1.19512E-5
10-71874699-C-T p.Arg316Gln missense AIFM2 1 83076 1.20372E-5 41538 0 8.47831E-6
10-71874700-G-A p.Arg316Trp missense AIFM2 11 83078 1.32406E-4 41539 0 9.56099E-5
10-71874712-A-G p.Ser312Pro missense AIFM2 3 83102 3.61002E-5 41551 0 NA
10-71874718-C-T p.Val310Ile missense AIFM2 1 83124 1.20302E-5 41562 0 3.34913E-5
10-71874719-G-A p.Ile309Ile synonymous AIFM2 1 83122 1.20305E-5 41561 0 2.51004E-5
10-71874726-G-A p.Ala307Val missense AIFM2 47 83124 5.6542E-4 41562 0 5.41436E-4
10-71874730-C-T p.Val306Met missense AIFM2 2 83128 2.40593E-5 41564 0 4.37828E-5
10-71874731-G-A p.Ala305Ala synonymous AIFM2 25 83128 3.00741E-4 41564 0 5.09489E-4
10-71874734-G-A p.Ile304Ile synonymous AIFM2 7967 82922 0.0960782 41461 548 0.103085
10-71874742-C-T p.Ala302Thr missense AIFM2 1 83128 1.20296E-5 41564 0 NA
10-71874743-G-A p.His301His synonymous AIFM2 2 83128 2.40593E-5 41564 0 6.76779E-5
10-71874751-C-T p.Gly299Ser missense AIFM2 2 83090 2.40703E-5 41545 0 1.19421E-5
10-71874752-G-A p.Ala298Ala synonymous AIFM2 51 83074 6.1391E-4 41537 0 0.00108239
10-71874773-C-T p.Thr291Thr synonymous AIFM2 148 83096 0.00178107 41548 0 0.00382166
10-71874774-G-A p.Thr291Met missense AIFM2 3 83118 3.60933E-5 41559 0 7.96197E-6
10-71874774-G-T p.Thr291Lys missense AIFM2 1 83118 1.20311E-5 41559 0 1.66403E-5
10-71874781-C-T p.Val289Met missense AIFM2 3 83092 3.61046E-5 41546 0 0.00100705
10-71874782-G-A p.Asp288Asp synonymous AIFM2 5 83098 6.01699E-5 41549 0 1.99026E-5
10-71874784-C-T p.Asp288Asn missense AIFM2 2057 83056 0.0247664 41528 103 0.0459027
10-71874790-A-G p.Cys286Arg missense AIFM2 1 83100 1.20337E-5 41550 0 8.3138E-6
10-71874798-A-G p.Ile283Thr missense AIFM2 2 83116 2.40628E-5 41558 0 3.97928E-6
10-71874802-C-T p.Ala282Thr missense AIFM2 7 83074 8.42622E-5 41537 0 5.03525E-4
10-71874803-G-A p.Tyr281Tyr synonymous AIFM2 8 83070 9.63043E-5 41535 0 0.00100705
10-71874808-C-T p.Val280Ile missense AIFM2 3 83036 3.61289E-5 41518 0 2.49863E-5
10-71874809-G-A p.Asn279Asn synonymous AIFM2 158 83020 0.00190316 41510 1 0.00308858
10-71874826-C-T p.Val274Met missense AIFM2 1 82910 1.20613E-5 41455 0 6.37085E-5
10-71874830-G-A p.Leu272Leu synonymous AIFM2 1 82874 1.20665E-5 41437 0 3.1841E-5
10-71874838-C-T p.Glu270Lys missense AIFM2 2 82742 2.41715E-5 41371 0 3.18512E-5
10-71874839-G-C p.Asn269Lys missense AIFM2 1 82738 1.20863E-5 41369 0 NA
10-71874842-C-T p.Val268Val synonymous AIFM2 2 82666 2.41937E-5 41333 0 NA
10-71874852-G-A p.Ala265Val missense AIFM2 2 82458 2.42548E-5 41229 0 1.44229E-4
10-71874855-C-T p.Gly264Asp missense AIFM2 3 82344 3.64325E-5 41172 0 NA
10-71874866-T-C p.Leu260Leu synonymous AIFM2 5251 81758 0.0642261 40879 211 0.076249
10-71874868-G-C p.Leu260Val missense AIFM2 1 82034 1.21901E-5 41017 0 NA
10-71874872-G-C p.Ser258Arg missense AIFM2 3 81838 3.66578E-5 40919 0 NA
10-71874877-C-CAAATGCTTTGCGGTAGGCGGAGCTGTTGATCTTGA c.770-2_770-1insTCAAGATCAACAGCTCCGCCTACCGCAAAGCATTT splice_acceptor AIFM2 3 81754 3.66955E-5 40877 0 NA
10-71874884-A-G c.770-8T>C splice_region AIFM2 2 81506 2.45381E-5 40753 0 4.01861E-6
10-71876370-C-T c.769+8G>A splice_region AIFM2 1 82648 1.20995E-5 41324 0 NA
10-71876382-C-T p.Ala255Ala synonymous AIFM2 57599 80976 0.71131 40488 20998 0.722199
10-71876389-C-T p.Arg253His missense AIFM2 5 82942 6.02831E-5 41471 0 6.37146E-5
10-71876390-G-A p.Arg253Cys missense AIFM2 257 82956 0.00309803 41478 0 0.00238838
10-71876396-C-T p.Ala251Thr missense AIFM2 1 82952 1.20552E-5 41476 0 3.18471E-5
10-71876397-G-A p.Ser250Ser synonymous AIFM2 2 82982 2.41016E-5 41491 0 5.03525E-4
10-71876415-G-A p.Gly244Gly synonymous AIFM2 1 83086 1.20357E-5 41543 0 5.03525E-4
10-71876417-C-A p.Gly244Cys missense AIFM2 1 83080 1.20366E-5 41540 0 NA
10-71876417-C-T p.Gly244Ser missense AIFM2 3 83080 3.61098E-5 41540 0 4.11862E-5
10-71876418-G-A p.Thr243Thr synonymous AIFM2 20 83084 2.4072E-4 41542 0 0.00116143
10-71876419-G-A p.Thr243Ile missense AIFM2 2 83090 2.40703E-5 41545 0 NA
10-71876424-G-C p.Leu241Leu synonymous AIFM2 1 83138 1.20282E-5 41569 0 NA
10-71876427-A-G p.Ile240Ile synonymous AIFM2 1 83140 1.20279E-5 41570 0 NA
10-71876459-T-C p.Lys230Glu missense AIFM2 2 83174 2.4046E-5 41587 0 7.95267E-6
10-71876464-G-A p.Thr228Met missense AIFM2 3 83150 3.60794E-5 41575 0 0.001875
10-71876473-T-C p.Lys225Arg missense AIFM2 16 83158 1.92405E-4 41579 0 0.00352467
10-71876478-G-A p.Tyr223Tyr synonymous AIFM2 2 83146 2.40541E-5 41573 0 2.38586E-5
10-71876485-C-T p.Arg221Gln missense AIFM2 40 83114 4.81267E-4 41557 0 2.62446E-4
10-71876486-G-A p.Arg221* stop_gained AIFM2 2 83116 2.40628E-5 41558 0 0.00375
10-71876493-A-G p.Asn218Asn synonymous AIFM2 1 83088 1.20354E-5 41544 0 1.19295E-5
10-71876494-T-C p.Asn218Ser missense AIFM2 2 83082 2.40726E-5 41541 0 3.18613E-5
10-71876495-T-C p.Asn218Asp missense AIFM2 2 83080 2.40732E-5 41540 0 1.64731E-5
10-71876514-A-G p.Asn211Asn synonymous AIFM2 5 82966 6.02657E-5 41483 0 NA
10-71876524-C-T p.Arg208Gln missense AIFM2 22 82874 2.65463E-4 41437 0 0.001875
10-71877564-G-A c.616+4C>T splice_region AIFM2 4 81122 4.93084E-5 40561 0 1.27453E-4
10-71877583-C-A p.Val201Leu missense AIFM2 1 81726 1.2236E-5 40863 0 NA
10-71877584-G-A p.Gly200Gly synonymous AIFM2 7 81742 8.56353E-5 40871 0 7.46331E-5
10-71877592-G-A p.Arg198Trp missense AIFM2 11 81948 1.34231E-4 40974 0 5.88187E-4
10-71877601-T-C p.Ile195Val missense AIFM2 2 82106 2.43588E-5 41053 0 8.33451E-6
10-71877610-C-T p.Val192Met missense AIFM2 5 82230 6.08051E-5 41115 0 9.55292E-5
10-71877619-G-A p.Arg189Trp missense AIFM2 10 82220 1.21625E-4 41110 0 1.65883E-4
10-71877623-G-A p.Ser187Ser synonymous AIFM2 11 82238 1.33758E-4 41119 0 4.56765E-5
10-71877634-G-T p.Leu184Ile missense AIFM2 1 82198 1.21657E-5 41099 0 4.11194E-6
10-71877642-T-C p.Asp181Gly missense AIFM2 1 82226 1.21616E-5 41113 0 NA
10-71877643-C-T p.Asp181Asn missense AIFM2 1 82208 1.21643E-5 41104 0 1.65593E-5
10-71877655-C-G p.Val177Leu missense AIFM2 1 82112 1.21785E-5 41056 0 8.18585E-6
10-71877658-G-A p.Gln176* stop_gained AIFM2 1 82078 1.21835E-5 41039 0 NA
10-71877670-G-C p.Leu172Val missense AIFM2 1 81882 1.22127E-5 40941 0 NA
10-71877670-G-A p.Leu172Phe missense AIFM2 2 81882 2.44254E-5 40941 0 2.03822E-5
10-71877678-T-TCTTTCTCAGGATATTCTGTTTTAATCTCTGCTGCCATCTCCACTCCAGCC c.508-3_508-2insGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAG splice_region AIFM2 1 81604 1.22543E-5 40802 0 NA
10-71880262-CCT-C p.Glu169fs frameshift AIFM2 1 83110 1.20322E-5 41555 0 3.1835E-5
10-71880267-T-C p.Lys168Arg missense AIFM2 2 83110 2.40645E-5 41555 0 NA
10-71880269-CTCAGGATAT-C p.Tyr165_Glu167del disruptive_inframe_deletion AIFM2 2 83158 2.40506E-5 41579 0 3.1841E-5
10-71880269-C-T p.Glu167Glu synonymous AIFM2 1 83158 1.20253E-5 41579 0 NA
10-71880272-A-G p.Pro166Pro synonymous AIFM2 2 83162 2.40494E-5 41581 0 3.97671E-6
10-71880292-C-G p.Glu160Gln missense AIFM2 2 83218 2.40333E-5 41609 0 6.36902E-5
10-71880293-T-A p.Ala159Ala synonymous AIFM2 1 83206 1.20184E-5 41603 0 NA
10-71880298-C-T p.Ala158Thr missense AIFM2 1 83216 1.20169E-5 41608 0 NA
10-71880300-A-G p.Met157Thr missense AIFM2 1 83214 1.20172E-5 41607 0 6.37308E-5
10-71880301-T-C p.Met157Val missense AIFM2 178 83210 0.00213917 41605 0 0.00150328
10-71880308-T-C p.Gly154Gly synonymous AIFM2 1 83194 1.20201E-5 41597 0 0.00352467
10-71880314-C-T p.Ser152Ser synonymous AIFM2 5 83204 6.00933E-5 41602 0 4.95066E-5
10-71880315-G-A p.Ser152Leu missense AIFM2 1 83210 1.20178E-5 41605 0 3.97763E-6
10-71880321-C-T p.Gly150Glu missense AIFM2 2 83216 2.40338E-5 41608 0 NA
10-71880333-A-G p.Val146Ala missense AIFM2 2 83170 2.40471E-5 41585 0 3.97766E-6
10-71880334-C-T p.Val146Met missense AIFM2 3 83176 3.60681E-5 41588 0 3.18593E-5
10-71880338-G-T p.Phe144Leu missense AIFM2 2 83166 2.40483E-5 41583 0 NA
10-71880338-G-A p.Phe144Phe synonymous AIFM2 1 83166 1.20241E-5 41583 0 NA
10-71880343-G-A p.Arg143Trp missense AIFM2 1 83116 1.20314E-5 41558 0 1.59246E-4
10-71880348-C-T p.Arg141His missense AIFM2 4 83072 4.8151E-5 41536 0 6.36943E-5
10-71880355-C-G p.Val139Leu missense+splice_region AIFM2 1 83056 1.20401E-5 41528 0 NA
10-71880360-A-G c.415-5T>C splice_region AIFM2 1 82994 1.20491E-5 41497 0 3.97975E-6
10-71880361-G-A c.415-6C>T splice_region AIFM2 1 82990 1.20496E-5 41495 0 1.35322E-4
10-71880840-C-G c.414+8G>C splice_region AIFM2 3 82822 3.62223E-5 41411 0 6.87853E-5
10-71880841-A-T c.414+7T>A splice_region AIFM2 1 82844 1.20709E-5 41422 0 NA
10-71880851-C-T p.Arg137Arg synonymous AIFM2 1 82914 1.20607E-5 41457 0 NA
10-71880852-C-T p.Arg137Lys missense AIFM2 1 82876 1.20662E-5 41438 0 5.03525E-4
10-71880858-A-G p.Met135Thr missense AIFM2 7154 82790 0.0864114 41395 404 0.177744
10-71880863-C-T p.Glu133Glu synonymous AIFM2 1 83010 1.20467E-5 41505 0 3.20102E-5
10-71880864-T-C p.Glu133Gly missense AIFM2 1 83016 1.20459E-5 41508 0 NA
10-71880864-T-A p.Glu133Val missense AIFM2 1 83016 1.20459E-5 41508 0 NA
10-71880867-T-C p.Tyr132Cys missense AIFM2 1 83004 1.20476E-5 41502 0 NA
10-71880872-C-T p.Gln130Gln synonymous AIFM2 7 83064 8.42724E-5 41532 0 8.2526E-6
10-71880881-G-A p.Ala127Ala synonymous AIFM2 1 83146 1.2027E-5 41573 0 3.58566E-5
10-71880887-C-T p.Gln125Gln synonymous AIFM2 1 83192 1.20204E-5 41596 0 NA
10-71880888-T-C p.Gln125Arg missense AIFM2 1 83188 1.2021E-5 41594 0 NA
10-71880889-G-C p.Gln125Glu missense AIFM2 1 83176 1.20227E-5 41588 0 8.24987E-6
10-71880892-T-C p.Ser124Gly missense AIFM2 1 83148 1.20267E-5 41574 0 3.9853E-6
10-71880902-A-G p.Asn120Asn synonymous AIFM2 3 83126 3.60898E-5 41563 0 3.22726E-5
10-71880913-C-T p.Gly117Ser missense AIFM2 7 83028 8.43089E-5 41514 0 4.9581E-5
10-71880915-G-A p.Pro116Leu missense AIFM2 4 82998 4.81939E-5 41499 0 3.5915E-5
10-71880936-G-A p.Thr109Met missense AIFM2 3 82504 3.63619E-5 41252 0 0.00100705
10-71880945-A-G p.Ile106Thr missense AIFM2 1 82258 1.21569E-5 41129 0 NA
10-71880954-G-A p.Ser103Phe missense AIFM2 1 81916 1.22076E-5 40958 0 8.30924E-6
10-71880961-G-A p.Pro101Ser missense AIFM2 1 81374 1.22889E-5 40687 0 1.37453E-5
10-71880966-G-A p.Ala99Val missense+splice_region AIFM2 3 80646 3.71996E-5 40323 0 2.068E-5
10-71880969-T-TCGCCACCCTGCAGCAGCACCATCTGGTTCTTCAG c.295-3_295-2insCTGAAGAACCAGATGGTGCTGCTGCAGGGTGGCG splice_region AIFM2 1 79852 1.25232E-5 39926 0 NA
10-71883156-C-T c.294+5G>A splice_region AIFM2 1 82374 1.21398E-5 41187 0 7.98301E-6
10-71883164-G-A p.Gly97Gly synonymous AIFM2 1 82514 1.21192E-5 41257 0 1.1962E-5
10-71883168-C-G p.Gly96Ala missense AIFM2 2 82706 2.4182E-5 41353 0 1.91107E-4
10-71883169-C-A p.Gly96Cys missense AIFM2 1 82750 1.20846E-5 41375 0 3.18512E-5
10-71883174-A-C p.Leu94Arg missense AIFM2 16 82828 1.93171E-4 41414 0 4.14013E-4
10-71883184-T-C p.Met91Val missense AIFM2 2 82936 2.4115E-5 41468 0 8.24321E-6
10-71883198-T-A p.Asp86Val missense AIFM2 12 83050 1.44491E-4 41525 0 0.00251762
10-71883199-C-T p.Asp86Asn missense AIFM2 2 83064 2.40778E-5 41532 0 1.64802E-5
10-71883201-A-G p.Ile85Thr missense AIFM2 1 83082 1.20363E-5 41541 0 3.97687E-6
10-71883202-T-C p.Ile85Val missense AIFM2 17 83086 2.04607E-4 41543 0 2.05999E-4
10-71883203-C-G p.Gly84Gly synonymous AIFM2 3 83084 3.6108E-5 41542 0 6.36902E-5
10-71883222-C-T p.Arg78Gln missense AIFM2 2 83128 2.40593E-5 41564 0 5.03525E-4
10-71883228-T-A p.Asn76Ile missense AIFM2 2 83130 2.40587E-5 41565 0 3.29538E-5
10-71883230-G-C p.Asp75Glu missense AIFM2 2 83134 2.40575E-5 41567 0 1.07369E-4
10-71883231-T-TC p.Asp75fs frameshift AIFM2 2 83120 2.40616E-5 41560 0 NA
10-71883245-C-T p.Ser70Ser synonymous AIFM2 1 83098 1.2034E-5 41549 0 8.23968E-6
10-71883246-G-A p.Ser70Leu missense AIFM2 1 83100 1.20337E-5 41550 0 NA
10-71883252-G-C p.Ser68Cys missense AIFM2 1 83066 1.20386E-5 41533 0 NA
10-71883268-T-C p.Lys63Glu missense AIFM2 1 82908 1.20616E-5 41454 0 NA
10-71883272-G-A p.Phe61Phe synonymous AIFM2 21 82790 2.53654E-4 41395 0 1.19355E-4
10-71883277-C-G c.179-1G>C splice_acceptor AIFM2 1 82716 1.20896E-5 41358 0 2.78525E-5
10-71883279-G-GTCTCCAC c.179-4_179-3insGTGGAGA splice_region AIFM2 1 82692 1.20931E-5 41346 0 NA
10-71883279-G-GTCTCCACGGAGGCTCGGAGAGCAGCCACATTGT c.179-4_179-3insACAATGTGGCTGCTCTCCGAGCCTCCGTGGAGA splice_region AIFM2 1 82692 1.20931E-5 41346 0 NA
10-71883658-A-T c.178+5T>A splice_region AIFM2 1 78244 1.27805E-5 39122 0 NA
10-71883662-C-T c.178+1G>A splice_donor AIFM2 15 78804 1.90346E-4 39402 0 4.14145E-4
10-71883664-T-C p.Thr59Thr splice_region+synonymous AIFM2 13 79024 1.64507E-4 39512 0 0.00100705
10-71883665-G-A p.Thr59Ile missense+splice_region AIFM2 1 79134 1.26368E-5 39567 0 NA
10-71883672-C-T p.Val57Met missense AIFM2 2 79976 2.50075E-5 39988 0 1.25928E-5
10-71883672-C-A p.Val57Leu missense AIFM2 7 79976 8.75263E-5 39988 0 NA
10-71883680-C-T p.Arg54Gln missense AIFM2 1 80746 1.23845E-5 40373 0 3.18634E-5
10-71883681-G-A p.Arg54* stop_gained AIFM2 18 80782 2.22822E-4 40391 0 1.68594E-4
10-71883690-C-A p.Ala51Ser missense AIFM2 1 81650 1.22474E-5 40825 0 2.43358E-5
10-71883702-G-A p.His47Tyr missense AIFM2 1 82058 1.21865E-5 41029 0 NA
10-71883709-G-A p.Asp44Asp synonymous AIFM2 678 82068 0.00826144 41034 6 0.018125
10-71883709-G-C p.Asp44Glu missense AIFM2 1 82106 1.21794E-5 41053 0 8.51064E-6
10-71883722-A-G p.Val40Ala missense AIFM2 1 82144 1.21737E-5 41072 0 NA
10-71883739-G-T p.Asn34Lys missense AIFM2 1 82054 1.21871E-5 41027 0 3.18918E-5
10-71883739-G-A p.Asn34Asn synonymous AIFM2 4 82052 4.87496E-5 41026 0 6.81663E-5
10-71883744-G-A p.Leu33Leu synonymous AIFM2 2 82072 2.43688E-5 41036 0 3.99735E-5
10-71883749-T-C p.Gln31Arg missense AIFM2 1 81988 1.21969E-5 40994 0 3.18939E-5
10-71883760-G-A p.Ala27Ala synonymous AIFM2 1 81724 1.22363E-5 40862 0 NA
10-71883768-C-T p.Ala25Thr missense AIFM2 7 81490 8.59001E-5 40745 0 3.72773E-5
10-71883769-G-A p.Ile24Ile synonymous AIFM2 1 81518 1.22672E-5 40759 0 4.4367E-5
10-71883775-G-A p.Gly22Gly synonymous AIFM2 33 81514 4.04838E-4 40757 1 0.0020141
10-71883781-G-T p.Gly20Gly synonymous AIFM2 1 81528 1.22657E-5 40764 0 4.0205E-5
10-71883792-C-T p.Val17Met missense AIFM2 2 81516 2.45351E-5 40758 0 4.48099E-5
10-71883797-A-G p.Val15Ala missense AIFM2 1 81490 1.22714E-5 40745 0 6.37999E-5
10-71883801-C-T p.Val14Met missense AIFM2 1 81446 1.22781E-5 40723 0 2.11714E-5
10-71883802-G-A p.His13His synonymous AIFM2 1 81418 1.22823E-5 40709 0 1.28124E-5
10-71883805-C-A p.Leu12Leu synonymous AIFM2 4 81416 4.91304E-5 40708 0 5.04541E-4
10-71883806-A-C p.Leu12Arg missense AIFM2 1 81422 1.22817E-5 40711 0 NA
10-71883806-A-G p.Leu12Pro missense AIFM2 1 81422 1.22817E-5 40711 0 NA
10-71883810-C-T p.Ala11Thr missense AIFM2 5 81274 6.15203E-5 40637 0 5.04541E-4
10-71883814-C-T p.Ser9Ser synonymous AIFM2 1 81042 1.23393E-5 40521 0 3.20369E-5
10-71883815-G-A p.Ser9Leu missense AIFM2 3 81122 3.69813E-5 40561 0 6.37349E-5
10-71883824-G-A p.Ser6Leu missense AIFM2 2 80966 2.47017E-5 40483 0 5.23505E-6
10-71883824-G-C p.Ser6Trp missense AIFM2 1 80966 1.23509E-5 40483 0 2.05238E-5
10-71883826-G-A p.Val5Val synonymous AIFM2 1 80954 1.23527E-5 40477 0 5.47537E-6
10-71883836-C-A p.Gly2Val missense AIFM2 403 80606 0.00499963 40303 4 0.00691584
10-71883850-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain AIFM2 1 79874 1.25197E-5 39937 0 2.34801E-5
10-71883852-C-A c.-12G>T splice_region AIFM2 1 79806 1.25304E-5 39903 0 3.18756E-5
10-71883856-G-GTCGGCCGCGCCCGCGCGCTCTCGCTCCGGCTCC c.-13-4_-13-3insGGAGCCGGAGCGAGAGCGCGCGGGCGCGGCCGA splice_region AIFM2 1 79600 1.25628E-5 39800 0 NA
10-71892520-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain AIFM2 2 460 0.00434783 230 0 NA