Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-44470406-T-G c.*71A>C splice_region ACOT8 1 79046 1.26509E-5 39523 0 NA
20-44470475-GGCTACA-G p.Leu319_Ter320delins??? stop_lost ACOT8 32 79602 4.02E-4 39801 0 3.18959E-4
20-44470484-T-C p.Lys318Arg missense ACOT8 1 79594 1.25638E-5 39797 0 NA
20-44470493-G-C p.Ser315* stop_gained ACOT8 2 79576 2.51332E-5 39788 0 4.69865E-5
20-44470501-GG-AC p.Pro312Arg missense ACOT8 1 79550 1.25707E-5 39775 0 NA
20-44470502-G-A p.Pro312Leu missense ACOT8 1 79542 1.2572E-5 39771 0 4.24369E-6
20-44470504-C-T p.Lys311Lys synonymous ACOT8 1 79536 1.25729E-5 39768 0 8.45988E-6
20-44470509-C-T p.Val310Met missense ACOT8 2 79558 2.51389E-5 39779 0 NA
20-44470511-C-T p.Arg309Gln missense ACOT8 4 79540 5.02892E-5 39770 0 2.09289E-5
20-44470513-G-C p.Ile308Met missense ACOT8 27 79540 3.39452E-4 39770 0 7.33185E-4
20-44470518-C-T p.Val307Met missense ACOT8 58 79554 7.29065E-4 39777 1 8.15132E-4
20-44470519-G-A p.Gly306Gly synonymous ACOT8 1 79542 1.2572E-5 39771 0 3.11928E-5
20-44470522-C-G p.Glu305Asp missense ACOT8 1 79566 1.25682E-5 39783 0 NA
20-44470524-C-T p.Glu305Lys missense ACOT8 1 79562 1.25688E-5 39781 0 NA
20-44470525-C-T p.Gln304Gln synonymous ACOT8 1 79572 1.25672E-5 39786 0 8.21268E-6
20-44470526-TG-T p.Gln304fs frameshift ACOT8 32 79556 4.02232E-4 39778 0 3.4075E-4
20-44470527-G-A p.Gln304* stop_gained ACOT8 1 79570 1.25676E-5 39785 0 NA
20-44470546-G-T p.Val297Val synonymous ACOT8 1 79672 1.25515E-5 39836 0 NA
20-44470559-C-T p.Arg293His missense ACOT8 1 79762 1.25373E-5 39881 0 1.63607E-4
20-44470560-G-A p.Arg293Cys missense ACOT8 6 79756 7.52295E-5 39878 0 3.18796E-5
20-44470560-G-C p.Arg293Gly missense ACOT8 2 79756 2.50765E-5 39878 0 NA
20-44470564-C-T p.Leu291Leu synonymous ACOT8 2 79782 2.50683E-5 39891 0 4.05505E-6
20-44470566-G-A p.Leu291Leu synonymous ACOT8 1 79776 1.25351E-5 39888 0 3.18715E-5
20-44470571-C-T p.Gly289Glu missense ACOT8 3 79844 3.75733E-5 39922 0 4.39847E-5
20-44470573-A-G p.His288His synonymous ACOT8 1 79832 1.25263E-5 39916 0 NA
20-44470574-T-C p.His288Arg missense ACOT8 2 79826 2.50545E-5 39913 0 NA
20-44470575-G-A p.His288Tyr missense ACOT8 527 79834 0.0066012 39917 7 0.00983437
20-44470586-C-T p.Arg284Gln missense ACOT8 20 79850 2.5047E-4 39925 0 0.0010352
20-44470600-G-A c.842-5C>T splice_region ACOT8 1 79812 1.25294E-5 39906 0 6.38081E-5
20-44472018-G-A p.Phe167Phe synonymous ACOT8 1 59692 1.67527E-5 29846 0 3.18532E-5
20-44472021-G-A p.Ile166Ile synonymous ACOT8 1 60858 1.64317E-5 30429 0 NA
20-44472023-T-C p.Ile166Val missense ACOT8 3 61468 4.88059E-5 30734 0 3.18695E-5
20-44472159-C-T c.841+7G>A splice_region ACOT8 1 79204 1.26256E-5 39602 0 1.23819E-5
20-44472162-T-G c.841+4A>C splice_region ACOT8 1 79356 1.26014E-5 39678 0 4.10748E-6
20-44472163-C-T c.841+3G>A splice_region ACOT8 25708 77516 0.331648 38758 4864 0.344375
20-44472166-C-T p.Gly281Ser missense+splice_region ACOT8 4 79354 5.0407E-5 39677 0 4.9287E-5
20-44472167-G-A p.Ala280Ala splice_region+synonymous ACOT8 4 79356 5.04058E-5 39678 0 1.90614E-5
20-44472168-G-T p.Ala280Asp missense+splice_region ACOT8 1 79496 1.25792E-5 39748 0 NA
20-44472174-G-A p.Pro278Leu missense ACOT8 1 79694 1.2548E-5 39847 0 4.06954E-6
20-44472181-C-T p.Glu276Lys missense ACOT8 1 79954 1.25072E-5 39977 0 1.61853E-5
20-44472182-G-A p.Cys275Cys synonymous ACOT8 3 79902 3.7546E-5 39951 0 1.27421E-4
20-44472182-G-C p.Cys275Trp missense ACOT8 1 79904 1.2515E-5 39952 0 NA
20-44472184-A-T p.Cys275Ser missense ACOT8 2 80262 2.49184E-5 40131 0 1.73614E-4
20-44472203-G-A p.Asp268Asp synonymous ACOT8 2 80848 2.47378E-5 40424 0 6.25E-4
20-44472207-G-C p.Ala267Gly missense ACOT8 6 80970 7.41015E-5 40485 0 6.36821E-5
20-44472211-G-A p.Arg266* stop_gained ACOT8 2 81222 2.46239E-5 40611 0 4.38904E-5
20-44472211-G-C p.Arg266Gly missense ACOT8 1 81222 1.23119E-5 40611 0 NA
20-44472220-C-T p.Ala263Thr missense ACOT8 7 81300 8.61009E-5 40650 0 3.18451E-5
20-44472221-G-A p.His262His synonymous ACOT8 4 81416 4.91304E-5 40708 0 7.98448E-6
20-44472232-T-C p.Met259Val missense ACOT8 1 81826 1.22211E-5 40913 0 NA
20-44472245-T-G p.Ser254Ser synonymous ACOT8 1 82016 1.21927E-5 41008 0 NA
20-44472248-G-A p.Val253Val synonymous ACOT8 1 82038 1.21895E-5 41019 0 3.98292E-6
20-44472259-G-A p.His250Tyr missense ACOT8 1 82074 1.21841E-5 41037 0 1.66959E-5
20-44472279-T-C p.His243Arg missense ACOT8 1 82146 1.21734E-5 41073 0 NA
20-44472286-G-A p.Leu241Leu synonymous ACOT8 79 82088 9.62382E-4 41044 0 0.00171984
20-44472292-C-T p.Ala239Thr missense ACOT8 2 82098 2.43611E-5 41049 0 NA
20-44472301-A-G p.Leu236Leu synonymous ACOT8 1 82102 1.218E-5 41051 0 7.96464E-6
20-44472302-G-C p.Phe235Leu missense ACOT8 1 82100 1.21803E-5 41050 0 NA
20-44472308-A-G p.Tyr233Tyr synonymous ACOT8 1 82026 1.21913E-5 41013 0 2.49817E-5
20-44472309-T-C p.Tyr233Cys missense ACOT8 4 81976 4.87948E-5 40988 0 3.33084E-5
20-44472314-G-A p.Ser231Ser synonymous ACOT8 10 81740 1.22339E-4 40870 0 1.71369E-4
20-44472320-A-G p.Tyr229Tyr synonymous ACOT8 2 81658 2.44924E-5 40829 0 3.98686E-6
20-44472321-T-C p.Tyr229Cys missense ACOT8 2 81622 2.45032E-5 40811 0 1.66984E-5
20-44472325-C-T p.Ala228Thr missense ACOT8 2 81336 2.45894E-5 40668 0 6.36983E-5
20-44472326-G-A p.Ala227Ala synonymous ACOT8 1 81256 1.23068E-5 40628 0 5.03525E-4
20-44472351-T-G p.Asp219Ala missense ACOT8 2 79580 2.51319E-5 39790 0 NA
20-44472352-C-T p.Asp219Asn missense ACOT8 1 79502 1.25783E-5 39751 0 4.00628E-5
20-44472358-C-T p.Glu217Lys missense+splice_region ACOT8 1 78932 1.26691E-5 39466 0 6.3743E-5
20-44472359-G-A p.Gly216Gly splice_region+synonymous ACOT8 4 78516 5.0945E-5 39258 0 0.00100705
20-44472377-T-C p.Ter227Trpext*? stop_lost ACOT8 1 76978 1.29907E-5 38489 0 8.7581E-6
20-44472380-GC-G p.Gly226fs frameshift ACOT8 432 76430 0.00565223 38215 2 0.00618583
20-44472385-G-C p.Gln225Glu missense ACOT8 2 75954 2.63317E-5 37977 0 NA
20-44472403-G-C p.Leu219Val missense ACOT8 1 73242 1.36534E-5 36621 0 NA
20-44472417-C-T c.647-6G>A splice_region ACOT8 2 69838 2.86377E-5 34919 0 1.71638E-5
20-44472418-G-A c.647-7C>T splice_region ACOT8 2 69474 2.87877E-5 34737 0 1.32012E-5
20-44472895-C-T c.646+7G>A splice_region ACOT8 1 82722 1.20887E-5 41361 0 3.58466E-5
20-44472907-T-C p.Tyr214Cys missense ACOT8 1 82970 1.20525E-5 41485 0 5.17458E-5
20-44472907-T-G p.Tyr214Ser missense ACOT8 1 82970 1.20525E-5 41485 0 NA
20-44472910-C-A p.Gly213Val missense ACOT8 8 83000 9.63855E-5 41500 0 7.42905E-5
20-44472910-C-T p.Gly213Asp missense ACOT8 2 83000 2.40964E-5 41500 0 NA
20-44472913-C-T p.Arg212Gln missense ACOT8 5 83020 6.02265E-5 41510 0 5.03525E-4
20-44472914-G-A p.Arg212Trp missense ACOT8 6 83048 7.22474E-5 41524 0 6.60012E-5
20-44472915-G-A p.Ala211Ala synonymous ACOT8 1 83044 1.20418E-5 41522 0 NA
20-44472920-G-A p.Arg210* stop_gained ACOT8 1 83094 1.20346E-5 41547 0 4.37675E-5
20-44472927-G-C p.Phe207Leu missense ACOT8 1 83200 1.20192E-5 41600 0 3.18532E-5
20-44472931-A-G p.Met206Thr missense ACOT8 1 83216 1.20169E-5 41608 0 NA
20-44472934-T-C p.Gln205Arg missense ACOT8 20 83240 2.40269E-4 41620 0 1.11369E-4
20-44472963-CA-C p.Leu195fs frameshift ACOT8 9 83302 1.08041E-4 41651 0 1.6478E-5
20-44472972-T-C p.Pro192Pro synonymous ACOT8 17 83300 2.04082E-4 41650 0 0.00100705
20-44472974-G-T p.Pro192Thr missense ACOT8 29 83304 3.48123E-4 41652 0 0.00625
20-44472976-T-A p.Asn191Ile missense ACOT8 1 83288 1.20065E-5 41644 0 1.64764E-5
20-44472999-G-A p.Val183Val synonymous ACOT8 3 83250 3.6036E-5 41625 0 6.59076E-5
20-44473004-C-T p.Glu182Lys missense ACOT8 16 83224 1.92252E-4 41612 0 1.59286E-4
20-44473006-T-C p.Gln181Arg missense ACOT8 1 83212 1.20175E-5 41606 0 9.5584E-5
20-44473013-CA-C p.Ile178fs frameshift ACOT8 1 83204 1.20187E-5 41602 0 NA
20-44473018-C-T p.Arg177Gln missense ACOT8 1 83164 1.20244E-5 41582 0 7.96083E-6
20-44473019-G-A p.Arg177* stop_gained ACOT8 2 83154 2.40518E-5 41577 0 4.11916E-5
20-44473026-C-G p.Ala174Ala synonymous ACOT8 9 83110 1.0829E-4 41555 0 9.55962E-5
20-44473026-C-T p.Ala174Ala synonymous ACOT8 1 83110 1.20322E-5 41555 0 5.03525E-4
20-44473027-G-A p.Ala174Val missense ACOT8 8 83104 9.62649E-5 41552 0 1.23577E-4
20-44473029-CA-C p.Leu173fs frameshift ACOT8 153 83124 0.00184062 41562 2 9.11682E-4
20-44473031-A-G p.Leu173Leu synonymous ACOT8 1 83120 1.20308E-5 41560 0 8.24906E-6
20-44473035-G-C p.Tyr171* stop_gained ACOT8 1 83068 1.20383E-5 41534 0 NA
20-44473043-T-A p.Lys169* stop_gained ACOT8 6 82982 7.23048E-5 41491 0 6.37471E-5
20-44473046-G-C p.Gln168Glu missense ACOT8 1 82892 1.20639E-5 41446 0 6.37267E-5
20-44473050-G-A p.Asn166Asn synonymous ACOT8 1 82818 1.20747E-5 41409 0 NA
20-44473055-G-C p.Pro165Ala missense ACOT8 1 82778 1.20805E-5 41389 0 1.64813E-5
20-44473062-GAAAGT-G c.489-8_489-4delACTTT splice_region ACOT8 1 82644 1.21001E-5 41322 0 6.37389E-5
20-44473062-G-A c.489-3C>T splice_region ACOT8 2 82644 2.42002E-5 41322 0 NA
20-44477085-T-C c.488+4A>G splice_region ACOT8 1 83130 1.20294E-5 41565 0 NA
20-44477088-C-T c.488+1G>A splice_donor ACOT8 12 83204 1.44224E-4 41602 0 1.27372E-4
20-44477115-A-T p.Cys154* stop_gained ACOT8 1 83276 1.20083E-5 41638 0 NA
20-44477137-G-T p.Pro147Gln missense ACOT8 48 83316 5.7612E-4 41658 0 0.00114613
20-44477148-G-A p.His99Tyr missense ACOT8 7 83328 8.40054E-5 41664 0 5.18007E-4
20-44477173-G-A p.Pro135Leu missense ACOT8 312 83336 0.00374388 41668 0 0.00662843
20-44477174-G-T p.Pro135Thr missense ACOT8 2 83350 2.39952E-5 41675 0 9.89299E-5
20-44477175-G-A p.Pro90Ser missense ACOT8 1 83344 1.19985E-5 41672 0 1.59141E-5
20-44477182-T-A p.Gln132Leu missense ACOT8 2 83338 2.39987E-5 41669 0 8.24131E-6
20-44477188-T-C p.Gln130Arg missense ACOT8 5 83358 5.99822E-5 41679 0 0.00151057
20-44477206-C-T p.Cys124Tyr missense ACOT8 1 83346 1.19982E-5 41673 0 NA
20-44477222-TC-T p.Lys119fs frameshift ACOT8 2 83350 2.39952E-5 41675 0 3.29522E-5
20-44477224-C-T p.Trp73* stop_gained ACOT8 1 83360 1.19962E-5 41680 0 6.59109E-5
20-44477226-A-G p.Trp73Arg missense ACOT8 1 83358 1.19964E-5 41679 0 NA
20-44477234-C-T p.Val115Met missense ACOT8 3 83336 3.59988E-5 41668 0 3.18959E-5
20-44477235-G-C p.Arg70Gly missense ACOT8 1 83336 1.19996E-5 41668 0 1.19372E-5
20-44477244-A-G p.Leu132Pro missense ACOT8 3 83342 3.59963E-5 41671 0 8.23845E-6
20-44477249-G-A p.Arg110Cys missense ACOT8 2 83316 2.4005E-5 41658 0 3.19611E-5
20-44477253-C-T p.Arg129Gln missense ACOT8 2 83320 2.40038E-5 41660 0 3.58354E-5
20-44477254-G-A p.Ser108Leu missense ACOT8 4 83314 4.80111E-5 41657 0 3.58397E-5
20-44477263-G-A p.Arg126* stop_gained ACOT8 2 83298 2.40102E-5 41649 0 1.23529E-4
20-44477272-C-T p.Arg102Gln missense ACOT8 1 83278 1.2008E-5 41639 0 5.77462E-5
20-44477273-G-A p.Arg102* stop_gained ACOT8 1 83262 1.20103E-5 41631 0 3.98975E-6
20-44477278-C-T p.Arg100Gln missense ACOT8 6 83266 7.20582E-5 41633 0 6.37389E-5
20-44477282-C-G p.Glu99Gln missense ACOT8 1 83234 1.20143E-5 41617 0 5.03525E-4
20-44477285-C-G p.Val98Leu missense ACOT8 1 83220 1.20163E-5 41610 0 3.99278E-6
20-44477293-A-G p.Leu95Pro missense ACOT8 1 83176 1.20227E-5 41588 0 4.01932E-6
20-44477307-C-T p.Arg111Gln missense ACOT8 1 83046 1.20415E-5 41523 0 8.42559E-6
20-44477308-G-A p.Arg111* stop_gained ACOT8 88 82996 0.00106029 41498 1 0.00242254
20-44477309-G-A p.Pro90Ser missense ACOT8 19 83004 2.28905E-4 41502 0 9.74944E-5
20-44477314-C-T p.Gly88Glu missense+splice_region ACOT8 1 82986 1.20502E-5 41493 0 NA
20-44477320-G-A c.263-6C>T splice_region ACOT8 1 82926 1.20589E-5 41463 0 NA
20-44477321-T-C c.263-7A>G splice_region ACOT8 32 82916 3.85933E-4 41458 0 1.91156E-4
20-44482550-C-T p.Leu72Leu synonymous ACOT8 79 77594 0.00101812 38797 0 0.00239006
20-44482558-A-C p.Cys70Gly missense ACOT8 1 77626 1.28823E-5 38813 0 NA
20-44482564-T-C p.Thr108Ala missense+splice_region ACOT8 1 77634 1.2881E-5 38817 0 6.68565E-6
20-44482575-A-G p.Leu64Ser missense ACOT8 2 77662 2.57526E-5 38831 0 NA
20-44482586-A-G p.Ala60Ala synonymous ACOT8 2 77684 2.57453E-5 38842 0 NA
20-44482599-C-T p.Arg56His missense ACOT8 1 77674 1.28743E-5 38837 0 6.18123E-5
20-44482600-G-A p.Ala92Val missense ACOT8 1 77680 1.28733E-5 38840 0 1.3349E-5
20-44482605-A-C p.Cys90Trp missense ACOT8 224 77670 0.002884 38835 3 0.00352505
20-44482623-T-C p.Glu48Gly missense+splice_region ACOT8 1 77654 1.28776E-5 38827 0 NA
20-44482629-G-A c.143-6C>T splice_region ACOT8 1 77642 1.28796E-5 38821 0 6.19425E-5
20-44483804-G-A p.Arg86Trp missense ACOT8 3 83200 3.60577E-5 41600 0 3.18634E-5
20-44483837-C-T p.Val75Ile missense ACOT8 2 83306 2.40079E-5 41653 0 1.27445E-4
20-44483850-A-T p.Ser70Ser synonymous ACOT8 1 83322 1.20016E-5 41661 0 NA
20-44483882-C-T p.Val60Met missense ACOT8 1 83344 1.19985E-5 41672 0 8.25668E-6
20-44483883-G-A p.Ile59Ile synonymous ACOT8 1 83336 1.19996E-5 41668 0 3.30273E-5
20-44483887-T-A p.Gln58Leu missense ACOT8 2 83328 2.40015E-5 41664 0 1.65155E-5
20-44483890-C-A p.Gly57Val missense ACOT8 4 83328 4.80031E-5 41664 0 NA
20-44483893-C-T p.Gly56Asp missense ACOT8 1 83330 1.20005E-5 41665 0 3.89857E-4
20-44483901-C-T p.Arg53Arg synonymous ACOT8 3 83340 3.59971E-5 41670 0 3.9789E-6
20-44483909-C-T p.Ala51Thr missense ACOT8 11 83332 1.32002E-4 41666 0 9.55292E-5
20-44483910-C-T p.Pro50Pro synonymous ACOT8 2 83328 2.40015E-5 41664 0 1.65396E-5
20-44483910-C-A p.Pro50Pro synonymous ACOT8 2 83328 2.40015E-5 41664 0 NA
20-44483933-T-C c.129-2A>G splice_acceptor ACOT8 1 83320 1.20019E-5 41660 0 NA
20-44485821-G-A c.128+6C>T splice_region ACOT8 3 80044 3.74794E-5 40022 0 2.64716E-4
20-44485822-G-A c.128+5C>T splice_region ACOT8 1 80034 1.24947E-5 40017 0 NA
20-44485832-G-A p.Leu41Leu synonymous ACOT8 1 80088 1.24863E-5 40044 0 NA
20-44485834-G-A p.Leu41Phe missense ACOT8 2 80090 2.49719E-5 40045 0 NA
20-44485835-A-T p.Asp40Glu missense ACOT8 1 80096 1.2485E-5 40048 0 NA
20-44485836-T-A p.Asp40Val missense ACOT8 1 80072 1.24888E-5 40036 0 8.45309E-6
20-44485843-C-T p.Asp38Asn missense ACOT8 1 80086 1.24866E-5 40043 0 NA
20-44485848-G-A p.Pro36Leu missense ACOT8 3 80058 3.74728E-5 40029 0 5.04032E-4
20-44485848-G-T p.Pro36Gln missense ACOT8 1 80060 1.24906E-5 40030 0 8.50022E-6
20-44485852-C-A p.Glu35* stop_gained ACOT8 1 79984 1.25025E-5 39992 0 NA
20-44485862-C-T p.Val31Val synonymous ACOT8 2 79732 2.5084E-5 39866 0 8.55564E-6
20-44485865-G-T p.Thr30Thr synonymous ACOT8 1 79768 1.25364E-5 39884 0 NA
20-44485867-T-A p.Thr30Ser missense ACOT8 53 79776 6.6436E-4 39888 0 6.37389E-4
20-44485868-C-T p.Thr29Thr synonymous ACOT8 1 79812 1.25294E-5 39906 0 3.18634E-5
20-44485871-G-A p.Val28Val synonymous ACOT8 2 79844 2.50488E-5 39922 0 NA
20-44485885-G-T p.Arg24Ser missense ACOT8 1 79928 1.25113E-5 39964 0 NA
20-44485889-G-A p.Asp22Asp synonymous ACOT8 1 79952 1.25075E-5 39976 0 1.7915E-5
20-44485899-G-A p.Pro19Leu missense ACOT8 6 79980 7.50188E-5 39990 0 3.18532E-5
20-44485899-G-T p.Pro19His missense ACOT8 1 79980 1.25031E-5 39990 0 NA
20-44485900-G-A p.Pro19Ser missense ACOT8 2 79960 2.50125E-5 39980 0 3.18532E-5
20-44485905-C-T p.Gly17Asp missense ACOT8 159 79810 0.00199223 39905 0 0.0033121
20-44485912-C-A p.Asp15Tyr missense ACOT8 1 79728 1.25426E-5 39864 0 6.25E-4
20-44485913-GCCACAGC-G p.Gly12fs frameshift ACOT8 7 79682 8.78492E-5 39841 0 NA
20-44485922-C-T p.Gln11Gln synonymous ACOT8 1 79688 1.25489E-5 39844 0 NA
20-44485924-G-T p.Gln11Lys missense ACOT8 1 79622 1.25593E-5 39811 0 NA
20-44485927-C-T p.Gly10Arg missense ACOT8 2 79640 2.5113E-5 39820 0 9.55597E-5
20-44485933-C-T p.Glu8Lys missense ACOT8 14 79544 1.76003E-4 39772 0 0.00125
20-44485943-C-G p.Pro4Pro synonymous ACOT8 2 79380 2.51953E-5 39690 0 1.32709E-5
20-44485944-G-A p.Pro4Leu missense ACOT8 1 79388 1.25964E-5 39694 0 NA
20-44485947-G-T p.Ser3Tyr missense ACOT8 1 79342 1.26037E-5 39671 0 NA
20-44485950-G-A p.Ser2Leu missense ACOT8 27 79234 3.40763E-4 39617 0 4.27229E-4
20-44485952-C-CATCT p.Met1fs frameshift ACOT8 542 79228 0.00684102 39614 11 0.02529
20-44486019-T-A c.-65A>T 5_prime_UTR_premature_start_codon_gain ACOT8 3 77584 3.86678E-5 38792 0 NA