Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-55013915-C-A c.-68C>A 5_prime_UTR_premature_start_codon_gain ACOT11 1 80082 1.24872E-5 40041 0 NA
1-55013928-A-T c.-55A>T 5_prime_UTR_premature_start_codon_gain ACOT11 1 80250 1.24611E-5 40125 0 NA
1-55013930-G-A c.-53G>A 5_prime_UTR_premature_start_codon_gain ACOT11 2 80264 2.49178E-5 40132 0 NA
1-55013968-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ACOT11 4 80356 4.97785E-5 40178 0 6.37755E-5
1-55013975-C-CCGGCG p.Met1fs frameshift ACOT11 243 80354 0.00302412 40177 3 0.00380671
1-55013976-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain ACOT11 4 80370 4.97698E-5 40185 0 0.00125156
1-55013997-C-T p.Val5Val synonymous ACOT11 5 80404 6.2186E-5 40202 0 0.00203046
1-55013998-G-A p.Gly6Arg missense ACOT11 2 80402 2.4875E-5 40201 0 3.46081E-5
1-55014007-C-T p.Leu9Leu synonymous ACOT11 562 80416 0.00698866 40208 9 0.013896
1-55014010-C-T p.Arg10* stop_gained ACOT11 5 80372 6.22107E-5 40186 0 3.53344E-5
1-55014011-GAC-AAT p.ArgArg10GlnTrp missense+splice_region ACOT11 1 80362 1.24437E-5 40181 0 NA
1-55014013-C-T p.Arg11Trp missense+splice_region ACOT11 3593 80196 0.0448027 40098 98 0.0687771
1-55014014-G-A p.Arg11Gln missense+splice_region ACOT11 2 80392 2.48781E-5 40196 0 2.86679E-4
1-55014014-G-T p.Arg11Leu missense+splice_region ACOT11 1 80390 1.24394E-5 40195 0 NA
1-55014015-G-A p.Arg11Arg splice_region+synonymous ACOT11 1 80378 1.24412E-5 40189 0 4.44721E-6
1-55014016-G-A c.33+1G>A splice_donor ACOT11 1 80370 1.24425E-5 40185 0 1.00388E-4
1-55014023-G-A c.33+8G>A splice_region ACOT11 2 80288 2.49103E-5 40144 0 NA
1-55014132-T-C n.124-8T>C splice_region ACOT11 96 77888 0.00123254 38944 0 0.00159276
1-55014142-C-G n.126C>G splice_region ACOT11 3 77180 3.88702E-5 38590 0 NA
1-55014291-C-T n.275C>T splice_region ACOT11 2 22924 8.72448E-5 11462 0 7.89889E-4
1-55014296-G-A n.276+4G>A splice_region ACOT11 11 20682 5.31863E-4 10341 0 7.32577E-4
1-55050322-C-T c.34-6C>T splice_region ACOT11 1 81652 1.22471E-5 40826 0 NA
1-55050323-C-T c.34-5C>T splice_region ACOT11 1 81726 1.2236E-5 40863 0 4.03184E-6
1-55050325-C-T c.34-3C>T splice_region ACOT11 1 81814 1.22228E-5 40907 0 4.02641E-6
1-55050329-G-GC p.Ala14fs frameshift ACOT11 2 81940 2.44081E-5 40970 0 NA
1-55050338-CTG-C p.Phe17fs frameshift ACOT11 4 82310 4.85968E-5 41155 0 8.65606E-6
1-55050350-A-G p.Asn19Ser missense ACOT11 1 82578 1.21098E-5 41289 0 5.03525E-4
1-55050352-C-T p.Arg20Cys missense ACOT11 1 82622 1.21033E-5 41311 0 3.18654E-5
1-55050353-G-A p.Arg20His missense ACOT11 1730 82614 0.0209408 41307 21 0.0186879
1-55050356-C-T p.Thr21Ile missense ACOT11 1 82750 1.20846E-5 41375 0 NA
1-55050361-CG-C p.Lys24fs frameshift ACOT11 1 82774 1.20811E-5 41387 0 NA
1-55050361-C-T p.Arg23Trp missense ACOT11 5 82774 6.04054E-5 41387 0 2.86679E-4
1-55050371-C-T p.Ala26Val missense ACOT11 1 82878 1.20659E-5 41439 0 NA
1-55050374-T-TA p.Arg28fs frameshift ACOT11 2 82892 2.41278E-5 41446 0 NA
1-55050376-C-T p.Arg28Cys missense ACOT11 12 82910 1.44735E-4 41455 0 1.59256E-4
1-55050380-C-T p.Ala29Val missense ACOT11 3 82938 3.61716E-5 41469 0 8.76082E-5
1-55050381-G-A p.Ala29Ala synonymous ACOT11 157 82954 0.00189262 41477 0 0.00259097
1-55050384-G-A p.Gly30Gly synonymous ACOT11 1 82972 1.20523E-5 41486 0 NA
1-55050387-C-T p.Asn31Asn synonymous ACOT11 7 82962 8.4376E-5 41481 0 2.48979E-5
1-55050393-T-C p.Ser33Ser synonymous ACOT11 3 82972 3.61568E-5 41486 0 NA
1-55050395-C-T p.Ala34Val missense ACOT11 5 82978 6.02569E-5 41489 0 NA
1-55050405-C-T p.Asp37Asp synonymous ACOT11 445 82900 0.00536791 41450 5 0.00774083
1-55050406-G-A p.Gly38Ser missense ACOT11 3 82952 3.61655E-5 41476 0 3.31779E-5
1-55050408-C-T p.Gly38Gly synonymous ACOT11 1 82946 1.2056E-5 41473 0 1.65893E-5
1-55050414-A-G p.Gly40Gly synonymous ACOT11 1 82936 1.20575E-5 41468 0 8.29476E-6
1-55050418-C-T p.Arg42Trp missense ACOT11 8 82908 9.64925E-5 41454 0 8.76368E-5
1-55050419-G-A p.Arg42Gln missense ACOT11 1 82932 1.20581E-5 41466 0 1.19494E-5
1-55050426-C-T p.Pro44Pro synonymous ACOT11 4 82946 4.82241E-5 41473 0 6.37105E-5
1-55050429-G-A p.Thr45Thr synonymous ACOT11 2 82876 2.41324E-5 41438 0 1.27405E-4
1-55050430-G-A p.Glu46Lys missense ACOT11 3 82884 3.61952E-5 41442 0 4.48371E-4
1-55050431-A-C p.Glu46Ala missense ACOT11 2 82852 2.41394E-5 41426 0 8.3062E-6
1-55050433-G-A p.Val47Met missense ACOT11 1 82838 1.20718E-5 41419 0 8.30537E-6
1-55050439-A-G p.Met49Val missense ACOT11 2 82762 2.41657E-5 41381 0 NA
1-55050446-A-T p.Gln51Leu missense ACOT11 2 82646 2.41996E-5 41323 0 6.37227E-5
1-55050447-G-T p.Gln51His missense ACOT11 1 82608 1.21054E-5 41304 0 8.33722E-6
1-55050448-C-T p.Leu52Leu synonymous ACOT11 1 82598 1.21068E-5 41299 0 NA
1-55050451-G-A p.Val53Met missense ACOT11 1 82528 1.21171E-5 41264 0 8.36162E-6
1-55050453-G-A p.Val53Val synonymous ACOT11 288 82444 0.00349328 41222 6 0.0079972
1-55050455-T-C p.Leu54Pro missense ACOT11 1 82480 1.21242E-5 41240 0 NA
1-55050457-C-T p.Pro55Ser missense ACOT11 2 82792 2.41569E-5 41396 0 2.49596E-5
1-55050465-CACCA-C p.Gln60fs frameshift ACOT11 1 82834 1.20723E-5 41417 0 NA
1-55050466-A-G p.Thr58Ala missense ACOT11 1 82822 1.20741E-5 41411 0 NA
1-55050467-C-A p.Thr58Asn missense ACOT11 1 82822 1.20741E-5 41411 0 NA
1-55050468-CA-C p.Asn59fs frameshift ACOT11 2 82834 2.41447E-5 41417 0 1.19524E-5
1-55050468-C-T p.Thr58Thr synonymous ACOT11 2 82834 2.41447E-5 41417 0 7.96825E-6
1-55050475-C-T p.Arg61Cys missense ACOT11 5 82760 6.04157E-5 41380 0 5.03525E-4
1-55050489-C-T p.Ser65Ser synonymous ACOT11 12 82526 1.45409E-4 41263 0 1.27713E-4
1-55050492-C-T p.Val66Val synonymous ACOT11 3 82486 3.63698E-5 41243 0 6.25E-4
1-55050494-GGCAGCT-G p.Gln68_Leu69del disruptive_inframe_deletion ACOT11 3 82470 3.63769E-5 41235 0 8.46926E-6
1-55050503-T-C p.Leu70Pro missense ACOT11 1 82296 1.21513E-5 41148 0 3.99799E-6
1-55050521-C-T p.Thr76Met missense ACOT11 1 81682 1.22426E-5 40841 0 3.22287E-5
1-55050522-G-A p.Thr76Thr synonymous ACOT11 5 81638 6.1246E-5 40819 0 7.25719E-5
1-55050530-T-C p.Leu79Pro missense ACOT11 1 81400 1.2285E-5 40700 0 NA
1-55050534-C-T p.Ser80Ser splice_region+synonymous ACOT11 1 81256 1.23068E-5 40628 0 1.3457E-4
1-55050535-G-A p.Ala81Thr missense+splice_region ACOT11 5 81240 6.1546E-5 40620 0 2.10225E-5
1-55050541-G-T c.241+6G>T splice_region ACOT11 1 81070 1.2335E-5 40535 0 NA
1-55051508-C-T p.Ala81Val missense+splice_region ACOT11 8 81936 9.76372E-5 40968 1 4.7808E-5
1-55051509-G-A p.Ala81Ala splice_region+synonymous ACOT11 15 81976 1.8298E-4 40988 0 1.27535E-4
1-55051518-C-T p.His84His synonymous ACOT11 4 82020 4.87686E-5 41010 0 9.99201E-5
1-55051519-G-A p.Ala85Thr missense ACOT11 1 82002 1.21948E-5 41001 0 NA
1-55051534-G-T p.Val90Phe missense ACOT11 1 82144 1.21737E-5 41072 0 8.31338E-6
1-55051535-T-C p.Val90Ala missense ACOT11 3 82144 3.65212E-5 41072 0 3.19E-5
1-55051537-A-T p.Thr91Ser missense ACOT11 2 82152 2.43451E-5 41076 0 NA
1-55051550-A-G p.Asp95Gly missense ACOT11 1 82180 1.21684E-5 41090 0 3.98089E-6
1-55051567-C-T p.His101Tyr missense ACOT11 1 81966 1.22002E-5 40983 0 NA
1-55051572-C-T p.Thr102Thr synonymous ACOT11 1 81918 1.22073E-5 40959 0 8.39166E-6
1-55051575-T-C p.Ile103Ile splice_region+synonymous ACOT11 2 81870 2.4429E-5 40935 0 NA
1-55051580-A-T c.311+3A>T splice_region ACOT11 2 81740 2.44678E-5 40870 0 NA
1-55058218-G-T c.312-1G>T splice_acceptor ACOT11 1 82960 1.2054E-5 41480 0 NA
1-55058225-A-T p.Gly106Gly synonymous ACOT11 4 82972 4.8209E-5 41486 0 3.19101E-5
1-55058225-A-G p.Gly106Gly synonymous ACOT11 2 82972 2.41045E-5 41486 0 3.99952E-6
1-55058229-G-C p.Val108Leu missense ACOT11 1 83014 1.20462E-5 41507 0 3.99786E-6
1-55058256-C-T p.Arg117Trp missense ACOT11 2 82924 2.41185E-5 41462 0 3.30278E-5
1-55058257-G-A p.Arg117Gln missense ACOT11 1 82942 1.20566E-5 41471 0 5.78006E-5
1-55058276-G-A p.Met123Ile missense ACOT11 2 82734 2.41739E-5 41367 0 4.3875E-5
1-55059613-G-C c.373-1G>C splice_acceptor ACOT11 6 82618 7.26234E-5 41309 0 6.37064E-5
1-55059631-C-T p.Ala130Ala synonymous ACOT11 1 82724 1.20884E-5 41362 0 1.1939E-5
1-55059633-C-T p.Ser131Leu missense ACOT11 3 82730 3.62625E-5 41365 0 3.18613E-5
1-55059634-G-A p.Ser131Ser synonymous ACOT11 2 82740 2.41721E-5 41370 0 4.95082E-5
1-55059636-A-C p.Glu132Ala missense ACOT11 5 82750 6.0423E-5 41375 0 7.95843E-6
1-55059639-AC-A p.Leu134fs frameshift ACOT11 6 82764 7.24953E-5 41382 0 4.77468E-5
1-55059649-T-C p.Ser136Ser synonymous ACOT11 1 82792 1.20785E-5 41396 0 NA
1-55059654-A-G p.Lys138Arg missense ACOT11 1 82774 1.20811E-5 41387 0 NA
1-55059682-C-T p.Ala147Ala synonymous ACOT11 4 82466 4.85048E-5 41233 0 3.18512E-5
1-55059683-A-G p.Thr148Ala missense ACOT11 1 82362 1.21415E-5 41181 0 NA
1-55059688-C-T p.Phe149Phe synonymous ACOT11 5 82250 6.07903E-5 41125 0 1.27413E-4
1-55059695-C-T p.Arg152Cys missense ACOT11 2 82448 2.42577E-5 41224 0 1.65385E-5
1-55059698-C-T p.Arg153* stop_gained ACOT11 1 82392 1.21371E-5 41196 0 4.13791E-5
1-55059699-G-A p.Arg153Gln missense ACOT11 3 82400 3.64078E-5 41200 0 5.03525E-4
1-55060224-G-A c.472-5G>A splice_region ACOT11 6077 79982 0.0759796 39991 491 0.112478
1-55060235-C-G p.Leu160Val missense ACOT11 1 80218 1.2466E-5 40109 0 3.1835E-5
1-55060240-G-A p.Lys161Lys synonymous ACOT11 4 80256 4.98405E-5 40128 0 8.63722E-6
1-55060241-C-T p.Gln162* stop_gained ACOT11 3 80220 3.73972E-5 40110 0 2.80303E-5
1-55060241-C-G p.Gln162Glu missense ACOT11 1 80220 1.24657E-5 40110 0 3.1841E-5
1-55060248-C-T p.Thr164Met missense ACOT11 3 79846 3.75723E-5 39923 0 9.55231E-5
1-55060249-G-A p.Thr164Thr synonymous ACOT11 1 79704 1.25464E-5 39852 0 6.3674E-5
1-55060251-C-T p.Pro165Leu missense ACOT11 2937 79454 0.0369648 39727 138 0.0687061
1-55060252-G-A p.Pro165Pro synonymous ACOT11 4 79554 5.02803E-5 39777 0 1.52217E-4
1-55060254-G-A p.Arg166Gln missense ACOT11 1 79476 1.25824E-5 39738 0 7.98792E-6
1-55060261-AGAG-A p.Glu170del conservative_inframe_deletion ACOT11 1 79152 1.26339E-5 39576 0 7.97728E-6
1-55060265-G-A p.Glu170Lys missense ACOT11 1 79006 1.26573E-5 39503 0 5.04032E-4
1-55060279-C-T p.His174His synonymous ACOT11 1 77956 1.28277E-5 38978 0 NA
1-55060287-C-T p.Ala177Val missense ACOT11 1 76994 1.2988E-5 38497 0 8.39011E-6
1-55060288-G-A p.Ala177Ala synonymous ACOT11 18 76938 2.33955E-4 38469 0 9.71671E-4
1-55060295-C-T p.Arg180Cys missense ACOT11 5 75432 6.62849E-5 37716 0 4.1881E-5
1-55060296-G-A p.Arg180His missense ACOT11 1 75296 1.32809E-5 37648 0 NA
1-55060298-C-T p.Arg181Trp missense ACOT11 16 75330 2.12399E-4 37665 0 6.25E-4
1-55060299-G-A p.Arg181Gln missense ACOT11 7 75128 9.31743E-5 37564 0 6.25E-4
1-55060301-C-T p.Arg182Cys missense ACOT11 1 75128 1.33106E-5 37564 0 3.99971E-6
1-55060302-G-A p.Arg182His missense ACOT11 1 75036 1.33269E-5 37518 0 NA
1-55060303-C-T p.Arg182Arg synonymous ACOT11 1 75124 1.33113E-5 37562 0 NA
1-55060304-A-G p.Met183Val missense ACOT11 1 75056 1.33234E-5 37528 0 NA
1-55060306-G-A p.Met183Ile missense ACOT11 1 74842 1.33615E-5 37421 0 3.18573E-5
1-55060308-G-A p.Arg184His missense ACOT11 1 74282 1.34622E-5 37141 0 7.99891E-6
1-55060313-G-A p.Val186Ile missense ACOT11 1 74296 1.34597E-5 37148 0 NA
1-55060317-A-G p.Tyr187Cys missense ACOT11 3 74140 4.0464E-5 37070 0 3.1989E-5
1-55060328-A-G p.Ile191Val missense ACOT11 1 73332 1.36366E-5 36666 0 1.25054E-4
1-55060346-A-G p.Asn197Asp missense ACOT11 1 72004 1.38881E-5 36002 0 NA
1-55060362-G-A p.Gly202Asp missense+splice_region ACOT11 6581 69460 0.0947452 34730 851 0.165052
1-55060363-C-T p.Gly202Gly splice_region+synonymous ACOT11 2 69934 2.85984E-5 34967 0 6.25E-4
1-55062932-A-T p.Asp203Val missense+splice_region ACOT11 1 80734 1.23864E-5 40367 0 2.50217E-5
1-55062949-T-C p.Cys209Arg missense ACOT11 5 81104 6.16492E-5 40552 0 4.99392E-5
1-55062955-C-T p.Arg211Cys missense ACOT11 2 81196 2.46318E-5 40598 0 0.001875
1-55062956-G-A p.Arg211His missense ACOT11 1 81184 1.23177E-5 40592 0 NA
1-55062960-G-A p.Met212Ile missense ACOT11 528 81320 0.00649287 40660 18 0.0188236
1-55062964-C-A p.Pro214Thr missense ACOT11 1 81332 1.22953E-5 40666 0 3.18674E-5
1-55062965-C-T p.Pro214Leu missense ACOT11 7 81354 8.60437E-5 40677 0 1.60948E-4
1-55062977-C-A p.Thr218Asn missense ACOT11 1 81580 1.22579E-5 40790 0 1.66326E-5
1-55062979-C-T p.Arg219Cys missense ACOT11 1 81592 1.22561E-5 40796 0 8.32182E-6
1-55062980-G-A p.Arg219His missense ACOT11 3 81578 3.67746E-5 40789 0 1.27543E-4
1-55063009-C-T p.Pro229Ser missense ACOT11 2 81872 2.44284E-5 40936 0 3.36378E-5
1-55063014-C-T p.His230His synonymous ACOT11 1 81888 1.22118E-5 40944 0 3.18796E-5
1-55063032-C-T p.Asn236Asn synonymous ACOT11 2 81856 2.44332E-5 40928 0 3.18492E-5
1-55063043-G-A p.Gly240Asp missense ACOT11 2 81758 2.44624E-5 40879 0 2.00486E-5
1-55063043-G-T p.Gly240Val missense ACOT11 1 81758 1.22312E-5 40879 0 1.75036E-5
1-55063051-A-G p.Met243Val missense ACOT11 1 81672 1.22441E-5 40836 0 8.95656E-6
1-55063060-A-C p.Met246Leu missense ACOT11 1 81390 1.22865E-5 40695 0 NA
1-55063069-G-A p.Val249Met missense ACOT11 2 81120 2.46548E-5 40560 0 8.07103E-6
1-55063076-C-G p.Thr251Ser missense ACOT11 1 80868 1.23658E-5 40434 0 NA
1-55063084-G-A p.Ala254Thr missense ACOT11 3 80396 3.73153E-5 40198 0 2.58751E-4
1-55063092-AG-A c.764+7delG splice_region ACOT11 4 80000 5.0E-5 40000 0 8.31421E-6
1-55063093-G-A c.764+5G>A splice_region ACOT11 1 79956 1.25069E-5 39978 0 1.09306E-5
1-55064968-G-A c.765-1G>A splice_acceptor ACOT11 3 79254 3.7853E-5 39627 0 4.11032E-6
1-55064970-C-T p.Arg256Trp missense+splice_region ACOT11 998 79282 0.012588 39641 5 0.0132691
1-55064970-C-A p.Arg256Arg splice_region+synonymous ACOT11 1 79366 1.25999E-5 39683 0 4.92724E-5
1-55064971-G-A p.Arg256Gln missense+splice_region ACOT11 1 79406 1.25935E-5 39703 0 4.18669E-5
1-55064980-G-A p.Arg259His missense ACOT11 3236 80574 0.0401618 40287 113 0.0709929
1-55064980-G-T p.Arg259Leu missense ACOT11 1 80826 1.23723E-5 40413 0 NA
1-55064980-GTG-ATA p.ArgAla259HisThr missense ACOT11 1 80826 1.23723E-5 40413 0 NA
1-55065018-T-C p.Phe272Leu missense ACOT11 1 82044 1.21886E-5 41022 0 NA
1-55065022-G-A p.Arg273Gln missense ACOT11 13 82100 1.58343E-4 41050 0 0.00125
1-55065028-C-T p.Pro275Leu missense ACOT11 2 82260 2.43132E-5 41130 0 1.23705E-4
1-55065029-G-A p.Pro275Pro synonymous ACOT11 133 82276 0.00161651 41138 3 0.00293868
1-55065036-G-A p.Val278Ile missense ACOT11 3 82338 3.64352E-5 41169 0 2.23999E-4
1-55065039-G-A p.Gly279Ser missense ACOT11 1 82354 1.21427E-5 41177 0 9.80264E-5
1-55065041-C-T p.Gly279Gly synonymous ACOT11 2 82382 2.42771E-5 41191 0 3.26052E-5
1-55065042-G-A p.Asp280Asn missense ACOT11 4 82438 4.85213E-5 41219 0 9.59532E-5
1-55065045-C-T p.Arg281Cys missense ACOT11 2 82452 2.42565E-5 41226 0 4.14848E-5
1-55065047-T-C p.Arg281Arg synonymous ACOT11 1 82482 1.21239E-5 41241 0 NA
1-55065051-G-T p.Val283Leu missense ACOT11 3 82496 3.63654E-5 41248 0 8.29876E-6
1-55065063-A-G p.Ile287Val missense ACOT11 1 82488 1.2123E-5 41244 0 NA
1-55065065-C-T p.Ile287Ile synonymous ACOT11 1 82498 1.21215E-5 41249 0 6.64916E-5
1-55065066-G-A p.Val288Met missense ACOT11 2 82476 2.42495E-5 41238 0 6.46747E-5
1-55065067-T-C p.Val288Ala missense ACOT11 2 82484 2.42471E-5 41242 0 NA
1-55065080-C-T p.Phe292Phe synonymous ACOT11 1 82340 1.21448E-5 41170 0 NA
1-55065086-T-C p.His294His splice_region+synonymous ACOT11 1 82192 1.21666E-5 41096 0 NA
1-55065094-G-T c.884+6G>T splice_region ACOT11 287 82036 0.00349846 41018 6 0.00802053
1-55066935-C-G c.885-7C>G splice_region ACOT11 1 81554 1.22618E-5 40777 0 3.18735E-5
1-55066954-C-T p.Gly299Gly synonymous ACOT11 1 81922 1.22067E-5 40961 0 3.18878E-5
1-55066955-G-A p.Val300Met missense ACOT11 4 82052 4.87496E-5 41026 0 2.00955E-5
1-55066959-G-A p.Cys301Tyr missense ACOT11 1 82186 1.21675E-5 41093 0 3.18695E-5
1-55066960-C-T p.Cys301Cys synonymous ACOT11 3 82162 3.65132E-5 41081 0 9.56938E-5
1-55066961-G-A p.Val302Met missense ACOT11 1 82268 1.21554E-5 41134 0 1.66304E-5
1-55066964-G-C p.Glu303Gln missense ACOT11 1 82346 1.21439E-5 41173 0 NA
1-55066973-C-T p.Arg306Cys missense ACOT11 3 82582 3.63275E-5 41291 0 8.29696E-6
1-55066974-G-A p.Arg306His missense ACOT11 2 82600 2.42131E-5 41300 0 NA
1-55066981-G-A p.Glu308Glu synonymous ACOT11 1 82774 1.20811E-5 41387 0 6.37714E-5
1-55066983-C-T p.Ala309Val missense ACOT11 1 82782 1.20799E-5 41391 0 NA
1-55066989-CCCACCGGCG-C p.Arg313_His315del conservative_inframe_deletion ACOT11 2 82868 2.41348E-5 41434 0 1.19668E-5
1-55066994-C-T p.Arg313Trp missense ACOT11 35 82896 4.22216E-4 41448 0 0.00200235
1-55066995-G-A p.Arg313Gln missense ACOT11 2 82914 2.41214E-5 41457 0 0.00125
1-55066997-C-T p.Arg314Cys missense ACOT11 17 82936 2.04977E-4 41468 0 2.23285E-4
1-55066998-G-A p.Arg314His missense ACOT11 6 82962 7.23223E-5 41481 0 4.13538E-5
1-55067009-A-C p.Ser318Arg missense ACOT11 6 83064 7.22335E-5 41532 0 2.78829E-5
1-55067009-A-G p.Ser318Gly missense ACOT11 2 83064 2.40778E-5 41532 0 3.18735E-5
1-55067018-A-G p.Met321Val missense ACOT11 4 83078 4.81475E-5 41539 0 NA
1-55067022-C-T p.Thr322Ile missense ACOT11 6 83110 7.21935E-5 41555 0 NA
1-55067038-C-T p.Asp327Asp synonymous ACOT11 1 83102 1.20334E-5 41551 0 8.26146E-6
1-55067039-G-A p.Ala328Thr missense ACOT11 13 83094 1.56449E-4 41547 1 1.59307E-4
1-55067043-A-T p.Asp329Val missense ACOT11 97 83074 0.00116763 41537 0 0.00122276
1-55067065-C-T p.Pro336Pro synonymous ACOT11 1 82990 1.20496E-5 41495 0 NA
1-55067069-A-T p.Ile338Phe missense ACOT11 1 82946 1.2056E-5 41473 0 NA
1-55067073-G-C p.Arg339Pro missense ACOT11 2 82834 2.41447E-5 41417 0 1.27527E-4
1-55067081-C-T p.Pro342Ser missense ACOT11 1 82712 1.20901E-5 41356 0 NA
1-55067082-C-G p.Pro342Arg missense ACOT11 25 82708 3.02268E-4 41354 0 0.001875
1-55067083-C-T p.Pro342Pro synonymous ACOT11 2 82688 2.41873E-5 41344 0 3.33834E-5
1-55067084-G-A p.Gly343Ser missense+splice_region ACOT11 1 82650 1.20992E-5 41325 0 5.04032E-4
1-55067086-C-T p.Gly343Gly splice_region+synonymous ACOT11 1 82612 1.21048E-5 41306 0 7.52345E-5
1-55067087-G-A c.1029+1G>A splice_donor ACOT11 2 82584 2.42178E-5 41292 0 3.22199E-5
1-55067091-G-C c.1029+5G>C splice_region ACOT11 1 82542 1.2115E-5 41271 0 8.37717E-6
1-55068336-C-T c.1030-6C>T splice_region ACOT11 3 80146 3.74317E-5 40073 0 NA
1-55068351-C-T p.Arg347Trp missense ACOT11 9 80394 1.11949E-4 40197 0 6.25E-4
1-55068352-G-A p.Arg347Gln missense ACOT11 2 80456 2.48583E-5 40228 0 4.76917E-5
1-55068354-C-T p.Arg348Trp missense ACOT11 40 80426 4.97352E-4 40213 0 0.00326426
1-55068355-G-A p.Arg348Gln missense ACOT11 1 80528 1.2418E-5 40264 0 NA
1-55068360-C-T p.Arg350* stop_gained ACOT11 4 80586 4.96364E-5 40293 0 4.58968E-5
1-55068361-G-A p.Arg350Gln missense ACOT11 2 80622 2.48071E-5 40311 0 1.366E-4
1-55068372-G-A p.Ala354Thr missense ACOT11 1 80746 1.23845E-5 40373 0 3.18939E-5
1-55068386-C-T p.Ile358Ile synonymous ACOT11 2 80814 2.47482E-5 40407 0 NA
1-55068388-G-A p.Arg359His missense ACOT11 1 80768 1.23811E-5 40384 0 1.23524E-5
1-55068396-A-G p.Arg362Gly missense+splice_region ACOT11 1 80712 1.23897E-5 40356 0 4.79111E-5
1-55069540-C-A c.1086-4C>A splice_region ACOT11 1 82908 1.20616E-5 41454 0 NA
1-55069541-C-T c.1086-3C>T splice_region ACOT11 1 82918 1.20601E-5 41459 0 1.64758E-5
1-55069553-C-T p.Ile365Ile synonymous ACOT11 2 83024 2.40894E-5 41512 0 3.18654E-5
1-55069554-G-A p.Val366Met missense ACOT11 3 83026 3.61333E-5 41513 0 9.06185E-5
1-55069554-G-C p.Val366Leu missense ACOT11 1 83026 1.20444E-5 41513 0 NA
1-55069580-C-T p.Pro374Pro synonymous ACOT11 1 83032 1.20435E-5 41516 0 1.31837E-4
1-55069586-C-T p.Ser376Ser synonymous ACOT11 2 83016 2.40917E-5 41508 0 9.56023E-5
1-55069587-G-A p.Val377Ile missense ACOT11 3 83008 3.61411E-5 41504 0 6.37592E-5
1-55069591-C-T p.Pro378Leu missense ACOT11 5 83008 6.02352E-5 41504 0 3.97725E-6
1-55069603-G-C p.Ser382Thr missense ACOT11 3 82924 3.61777E-5 41462 0 5.77063E-5
1-55069608-C-T p.Gln384* stop_gained ACOT11 4 82912 4.82439E-5 41456 0 0.00100705
1-55069608-C-G p.Gln384Glu missense+splice_region ACOT11 2 82914 2.41214E-5 41457 0 6.36416E-5
1-55069610-G-A p.Gln384Gln splice_region+synonymous ACOT11 1 82904 1.20621E-5 41452 0 8.24511E-6
1-55069616-GCT-G c.1152+7_1152+8delCT splice_region ACOT11 1 82816 1.2075E-5 41408 0 NA
1-55070021-G-A p.Val385Val splice_region+synonymous ACOT11 1 82906 1.20619E-5 41453 0 6.25E-4
1-55070039-C-T p.Asn391Asn synonymous ACOT11 2 83066 2.40772E-5 41533 0 3.18756E-5
1-55070040-G-A p.Val392Ile missense ACOT11 1 83058 1.20398E-5 41529 0 1.59091E-5
1-55070047-CCTT-C p.Leu395del disruptive_inframe_deletion ACOT11 2 83120 2.40616E-5 41560 0 4.94552E-5
1-55070053-A-C p.Lys396Thr missense ACOT11 16 83122 1.92488E-4 41561 1 0.0020141
1-55070079-G-T p.Val405Leu missense ACOT11 2 83122 2.4061E-5 41561 0 3.18735E-5
1-55070089-C-T p.Ser408Leu missense ACOT11 297 83068 0.00357538 41534 0 0.005
1-55070090-G-A p.Ser408Ser synonymous ACOT11 1 83076 1.20372E-5 41538 0 1.19354E-5
1-55070105-A-G c.1236+3A>G splice_region ACOT11 1 82962 1.20537E-5 41481 0 NA
1-55070108-T-C c.1236+6T>C splice_region ACOT11 1 82928 1.20587E-5 41464 0 NA
1-55070749-G-A p.Val413Ile missense+splice_region ACOT11 1 79762 1.25373E-5 39881 0 NA
1-55070752-C-T p.Arg414Cys missense ACOT11 4 79910 5.00563E-5 39955 0 0.00100705
1-55070752-C-A p.Arg414Ser missense ACOT11 1 79910 1.25141E-5 39955 0 NA
1-55070753-G-A p.Arg414His missense ACOT11 1 79884 1.25182E-5 39942 0 1.23882E-4
1-55070755-C-T p.Leu415Leu synonymous ACOT11 1 80108 1.24831E-5 40054 0 2.39446E-5
1-55070761-A-G p.Thr417Ala missense ACOT11 1 80376 1.24415E-5 40188 0 6.37592E-5
1-55070788-T-C p.Phe426Leu missense ACOT11 1 81046 1.23387E-5 40523 0 8.25232E-6
1-55070794-A-G p.Met428Val missense ACOT11 2 81042 2.46786E-5 40521 0 3.18817E-5
1-55070807-T-C p.Val432Ala missense ACOT11 4 81184 4.92708E-5 40592 0 NA
1-55070843-C-T p.Ser444Leu missense ACOT11 2 81048 2.46767E-5 40524 0 3.98318E-6
1-55070843-C-A p.Ser444* stop_gained ACOT11 1 81048 1.23384E-5 40524 0 NA
1-55070844-G-A p.Ser444Ser synonymous ACOT11 5 81010 6.17208E-5 40505 0 3.18492E-5
1-55070851-C-T p.Arg447Cys missense ACOT11 11 80920 1.35937E-4 40460 0 5.03525E-4
1-55070852-G-A p.Arg447His missense ACOT11 2 80970 2.47005E-5 40485 0 6.25E-4
1-55070871-C-T p.Asp453Asp synonymous ACOT11 1 80572 1.24113E-5 40286 0 NA
1-55070876-A-G p.His455Arg missense ACOT11 2 80480 2.48509E-5 40240 0 6.37186E-5
1-55070881-C-T p.Arg457Trp missense+splice_region ACOT11 2 80176 2.49451E-5 40088 0 3.34236E-5
1-55070882-G-A p.Arg457Gln missense+splice_region ACOT11 3 80156 3.7427E-5 40078 0 0.00100806
1-55070882-G-GGAGC c.1370_1370+1insGAGC splice_donor ACOT11 4 80156 4.99027E-5 40078 2 NA
1-55070883-G-T c.1370+1G>T splice_donor ACOT11 1 80126 1.24803E-5 40063 0 NA
1-55072805-A-C c.1371-2A>C splice_acceptor ACOT11 1 82730 1.20875E-5 41365 0 NA
1-55072809-G-A p.Ser458Asn missense+splice_region ACOT11 1 82782 1.20799E-5 41391 0 3.18735E-5
1-55072809-G-C p.Ser458Thr missense+splice_region ACOT11 2 82782 2.41598E-5 41391 0 NA
1-55072810-C-T p.Ser458Ser synonymous ACOT11 1 82776 1.20808E-5 41388 0 7.97505E-6
1-55072826-C-T p.Gln464* stop_gained ACOT11 7 82944 8.43943E-5 41472 0 4.14303E-4
1-55072832-G-T p.Asp466Tyr missense ACOT11 1 82970 1.20525E-5 41485 0 NA
1-55072834-C-T p.Asp466Asp synonymous ACOT11 1 82954 1.20549E-5 41477 0 1.19525E-5
1-55072840-C-T p.Asp468Asp synonymous ACOT11 25 82994 3.01227E-4 41497 0 3.98857E-4
1-55072843-C-T p.Asp469Asp synonymous ACOT11 2 82990 2.40993E-5 41495 0 3.18756E-5
1-55072853-C-A p.His473Asn missense ACOT11 1 83022 1.2045E-5 41511 0 8.29435E-6
1-55072855-C-T p.His473His synonymous ACOT11 1 83034 1.20433E-5 41517 0 NA
1-55072856-G-A p.Val474Ile missense ACOT11 222 83038 0.00267347 41519 1 0.00185523
1-55072863-G-A p.Ser476Asn missense ACOT11 1 83074 1.20375E-5 41537 0 9.56206E-5
1-55072871-C-T p.Leu479Phe missense ACOT11 11 83086 1.32393E-4 41543 0 1.91168E-4
1-55072873-C-T p.Leu479Leu synonymous ACOT11 3 83078 3.61106E-5 41539 0 4.96886E-5
1-55072874-G-C p.Gly480Arg missense ACOT11 1 83072 1.20378E-5 41536 0 NA
1-55072876-A-G p.Gly480Gly synonymous ACOT11 5 83068 6.01917E-5 41534 0 8.27801E-6
1-55072886-A-G p.Lys484Glu missense ACOT11 1 83104 1.20331E-5 41552 0 3.9795E-6
1-55072893-A-G p.Gln486Arg missense ACOT11 4 83118 4.81244E-5 41559 0 3.30836E-5
1-55072897-C-G p.Asp487Glu missense ACOT11 1 83114 1.20317E-5 41557 0 NA
1-55072900-C-G p.Phe488Leu missense ACOT11 2 83098 2.4068E-5 41549 0 8.27007E-6
1-55072901-G-C p.Val489Leu missense ACOT11 4 83100 4.81348E-5 41550 0 6.37267E-5
1-55072906-C-T p.Ile490Ile synonymous ACOT11 3 83082 3.61089E-5 41541 0 3.30808E-5
1-55072911-C-T p.Ala492Val missense ACOT11 83 83040 9.99518E-4 41520 1 5.78953E-4
1-55072914-C-T p.Ser493Leu missense ACOT11 1 83012 1.20465E-5 41506 0 3.18634E-5
1-55072915-G-A p.Ser493Ser synonymous ACOT11 1391 82970 0.0167651 41485 21 0.025266
1-55072917-G-C p.Arg494Thr missense ACOT11 1 83030 1.20438E-5 41515 0 3.97966E-6
1-55072920-G-A p.Arg495Gln missense ACOT11 1 82988 1.20499E-5 41494 0 3.18654E-5
1-55072934-A-C p.Asn500His missense ACOT11 3 82836 3.62161E-5 41418 0 0.00151057
1-55073610-C-G c.1503-5C>G splice_region ACOT11 2 81936 2.44093E-5 40968 0 3.99074E-6
1-55073612-C-T c.1503-3C>T splice_region ACOT11 2 81960 2.44021E-5 40980 0 2.48118E-5
1-55073623-A-G p.Tyr504Cys missense ACOT11 14 82092 1.7054E-4 41046 0 9.26094E-4
1-55073627-C-A p.Val505Val synonymous ACOT11 4 82136 4.86997E-5 41068 0 2.39006E-5
1-55073630-C-T p.Ile506Ile synonymous ACOT11 621 82132 0.007561 41066 15 0.0141991
1-55073631-G-A p.Ala507Thr missense ACOT11 1 82126 1.21764E-5 41063 0 5.57662E-5
1-55073632-C-T p.Ala507Val missense ACOT11 2 82152 2.43451E-5 41076 0 4.13455E-5
1-55073633-G-A p.Ala507Ala synonymous ACOT11 3 82142 3.65221E-5 41071 0 5.04032E-4
1-55073634-C-G p.Leu508Val missense ACOT11 4 82164 4.86831E-5 41082 0 1.65374E-5
1-55073635-T-C p.Leu508Pro missense ACOT11 2 82174 2.43386E-5 41087 0 2.38903E-5
1-55073640-T-C p.Ser510Pro missense ACOT11 2 82174 2.43386E-5 41087 0 6.40451E-5
1-55073647-C-T p.Thr512Met missense ACOT11 20 82172 2.43392E-4 41086 1 6.25E-4
1-55073648-G-A p.Thr512Thr synonymous ACOT11 3 82178 3.65061E-5 41089 0 1.65396E-5
1-55073651-G-A p.Leu513Leu synonymous ACOT11 17 82230 2.06737E-4 41115 1 1.27393E-4
1-55073659-A-G p.His516Arg missense ACOT11 1 82204 1.21649E-5 41102 0 8.27445E-6
1-55073660-C-A p.His516Gln missense ACOT11 19 82228 2.31065E-4 41114 1 7.6555E-4
1-55073661-CG-C p.Arg517fs frameshift ACOT11 13 82210 1.58132E-4 41105 0 3.50832E-4
1-55073661-C-T p.Arg517* stop_gained ACOT11 1 82210 1.2164E-5 41105 0 8.27554E-6
1-55073668-C-T p.Thr519Met missense ACOT11 3 82192 3.64999E-5 41096 0 9.57488E-5
1-55073679-A-G p.Arg523Gly missense ACOT11 1 82194 1.21663E-5 41097 0 NA
1-55073681-A-G p.Arg523Arg synonymous ACOT11 4 82168 4.86808E-5 41084 0 1.16088E-4
1-55073682-C-T p.Arg524Cys missense ACOT11 2 82168 2.43404E-5 41084 0 8.29174E-6
1-55073683-G-A p.Arg524His missense ACOT11 2 82128 2.43522E-5 41064 0 5.04032E-4
1-55073684-C-T p.Arg524Arg synonymous ACOT11 1 82132 1.21755E-5 41066 0 3.98387E-6
1-55073685-G-A p.Gly525Arg missense ACOT11 1 82094 1.21812E-5 41047 0 1.99184E-5
1-55073695-T-C p.Leu528Pro missense ACOT11 1 82008 1.21939E-5 41004 0 NA
1-55073696-C-G p.Leu528Leu synonymous ACOT11 3 82004 3.65836E-5 41002 0 4.78366E-5
1-55073697-T-C p.Cys529Arg missense ACOT11 5 81974 6.09949E-5 40987 0 4.99684E-5
1-55073718-C-T p.Arg536Cys missense ACOT11 1 81532 1.22651E-5 40766 0 5.04032E-4
1-55073719-G-A p.Arg536His missense ACOT11 2069 81432 0.0254077 40716 114 0.0487375
1-55073720-C-T p.Arg536Arg synonymous ACOT11 4 81470 4.90978E-5 40735 0 5.08828E-5
1-55073721-G-A p.Glu537Lys missense ACOT11 1 81454 1.22769E-5 40727 0 8.01366E-6
1-55073722-A-AG p.Asp539fs frameshift ACOT11 1 81430 1.22805E-5 40715 0 NA
1-55073731-A-G p.Gln540Arg missense ACOT11 1 81234 1.23101E-5 40617 0 6.39754E-5
1-55073732-G-GC p.Leu541fs frameshift ACOT11 1 81178 1.23186E-5 40589 0 NA
1-55073733-C-A p.Leu541Met missense ACOT11 1 81160 1.23213E-5 40580 0 4.0202E-6
1-55073734-T-A p.Leu541Gln missense ACOT11 3 81128 3.69786E-5 40564 0 1.59806E-4
1-55073735-G-C p.Leu541Leu synonymous ACOT11 1 81090 1.2332E-5 40545 0 NA
1-55073739-A-T p.Lys543* stop_gained ACOT11 1 80972 1.23499E-5 40486 0 NA
1-55073740-A-T p.Lys543Met missense+splice_region ACOT11 1 80962 1.23515E-5 40481 0 8.69959E-6
1-55073743-T-A c.1629+2T>A splice_donor ACOT11 1 80828 1.2372E-5 40414 0 NA
1-55073744-G-C c.1629+3G>C splice_region ACOT11 1 80824 1.23726E-5 40412 0 NA
1-55073745-AG-A c.1629+5delG splice_region ACOT11 1 80746 1.23845E-5 40373 0 NA
1-55073749-C-T c.1629+8C>T splice_region ACOT11 4 80480 4.97018E-5 40240 0 8.14505E-6
1-55074622-C-T c.1630-8C>T splice_region ACOT11 1 82072 1.21844E-5 41036 0 NA
1-55074633-TCCTACTACAACCAGGCCACCCCAG-T p.Ser545_Gly553delinsCys disruptive_inframe_deletion ACOT11 2 82240 2.43191E-5 41120 0 3.19101E-5
1-55074635-CTACTACA-C p.Tyr546fs frameshift ACOT11 18 82276 2.18776E-4 41138 0 NA
1-55074635-C-T p.Ser545Ser synonymous ACOT11 3 82276 3.64626E-5 41138 0 1.99914E-5
1-55074644-C-T p.Asn548Asn synonymous ACOT11 2 82466 2.42524E-5 41233 0 1.99559E-5
1-55074645-C-T p.Gln549* stop_gained ACOT11 9 82484 1.09112E-4 41242 0 4.12841E-5
1-55074647-G-A p.Gln549Gln synonymous ACOT11 641 82476 0.00777196 41238 2 0.00800842
1-55074650-C-T p.Ala550Ala synonymous ACOT11 2 82582 2.42184E-5 41291 0 3.98775E-6
1-55074666-A-C p.Asn556His missense ACOT11 1 82970 1.20525E-5 41485 0 3.19509E-5
1-55074675-A-G p.Thr559Ala missense ACOT11 4 83076 4.81487E-5 41538 0 2.78523E-5
1-55074683-C-T p.Asn561Asn synonymous ACOT11 97 83128 0.00116688 41564 1 0.00322255
1-55074683-C-A p.Asn561Lys missense ACOT11 10 83134 1.20288E-4 41567 0 5.1898E-4
1-55074686-G-A p.Val562Val synonymous ACOT11 4 83176 4.80908E-5 41588 0 3.29663E-5
1-55074689-C-T p.Ala563Ala synonymous ACOT11 476 83164 0.00572363 41582 9 0.0119458
1-55074690-G-A p.Gly564Ser missense ACOT11 1 83166 1.20241E-5 41583 0 3.24696E-5
1-55074690-G-C p.Gly564Arg missense ACOT11 1 83166 1.20241E-5 41583 0 NA
1-55074694-TCTC-T p.Ser567del disruptive_inframe_deletion ACOT11 1 83190 1.20207E-5 41595 0 NA
1-55074697-C-T p.Ser566Phe missense ACOT11 1 83210 1.20178E-5 41605 0 3.19448E-5
1-55074705-T-A p.Phe569Ile missense ACOT11 1 83220 1.20163E-5 41610 0 3.9769E-6
1-55074715-C-A p.Thr572Asn missense ACOT11 2 83228 2.40304E-5 41614 0 8.23859E-6
1-55074734-GT-G p.Leu580fs frameshift ACOT11 2 83014 2.40923E-5 41507 0 1.6484E-5
1-55074740-C-A p.Leu580Leu synonymous ACOT11 1 82898 1.2063E-5 41449 0 NA
1-55074743-G-A p.Leu581Leu synonymous ACOT11 2 82802 2.4154E-5 41401 0 3.18918E-5
1-55074749-C-G p.Asn583Lys missense ACOT11 1 82614 1.21045E-5 41307 0 3.18878E-5
1-55074750-C-T p.Arg584Trp missense ACOT11 2 82584 2.42178E-5 41292 0 4.12194E-5
1-55074750-C-G p.Arg584Gly missense ACOT11 1 82584 1.21089E-5 41292 0 NA
1-55074753-A-T p.Asn585Tyr missense ACOT11 2 82502 2.42418E-5 41251 0 8.24429E-6
1-55074762-G-A p.Ala588Thr missense ACOT11 1 82154 1.21723E-5 41077 0 NA
1-55074765-CCCAGCCT-C p.Ser590fs frameshift ACOT11 1 82180 1.21684E-5 41090 0 6.37796E-5
1-55074777-A-C p.Thr593Pro missense ACOT11 3 81690 3.67242E-5 40845 0 5.03525E-4
1-55074784-A-G p.Ter595Trpext*? stop_lost ACOT11 2 81580 2.45158E-5 40790 0 1.19595E-5
1-55075795-G-A n.2873G>A splice_region ACOT11 1 78440 1.27486E-5 39220 0 NA
1-55096415-G-T p.Trp546Cys missense ACOT11 1 56628 1.76591E-5 28314 0 NA
1-55096422-G-T p.Val549Phe missense ACOT11 1 57026 1.75359E-5 28513 0 6.36618E-4
1-55096434-G-A p.Glu553Lys missense ACOT11 65 57910 0.00112243 28955 0 0.00375748
1-55096439-G-A p.Leu554Leu synonymous ACOT11 1 58300 1.71527E-5 29150 0 4.06851E-5
1-55096444-C-T p.Ser556Leu missense ACOT11 3 58594 5.11998E-5 29297 0 5.70494E-5
1-55096472-C-T p.Leu565Leu synonymous ACOT11 3 59666 5.02799E-5 29833 0 6.37267E-5
1-55096473-G-A p.Glu566Lys missense ACOT11 1 59668 1.67594E-5 29834 0 6.27353E-4
1-55096473-G-C p.Glu566Gln missense ACOT11 1 59672 1.67583E-5 29836 0 4.33806E-6
1-55096476-T-A p.Ser567Thr missense ACOT11 1 59788 1.67258E-5 29894 0 4.32593E-6
1-55096481-G-C p.Arg568Ser missense ACOT11 309 59882 0.00516015 29941 8 0.0102236
1-55096483-C-G p.Ser569* stop_gained ACOT11 1 59882 1.66995E-5 29941 0 NA
1-55096484-A-T p.Ser569Ser synonymous ACOT11 4 59878 6.68025E-5 29939 0 NA
1-55096491-C-T p.Arg572Cys missense ACOT11 3 59812 5.01572E-5 29906 0 7.35294E-5
1-55096492-G-A p.Arg572His missense ACOT11 2 59780 3.3456E-5 29890 0 5.28541E-4
1-55096492-G-C p.Arg572Pro missense ACOT11 1 59780 1.6728E-5 29890 0 NA
1-55096499-C-T p.Ser574Ser synonymous ACOT11 1 59660 1.67616E-5 29830 0 6.00132E-5
1-55096500-G-C p.Asp575His missense ACOT11 5 59654 8.38167E-5 29827 0 6.31313E-4
1-55096500-G-A p.Asp575Asn missense ACOT11 6 59652 1.00583E-4 29826 0 2.23044E-4
1-55096502-C-G p.Asp575Glu missense ACOT11 9 59590 1.51032E-4 29795 0 0.00159067
1-55096502-C-T p.Asp575Asp synonymous ACOT11 5 59588 8.39095E-5 29794 0 1.91241E-4
1-55096504-G-GT p.Trp577fs frameshift ACOT11 1 59528 1.67988E-5 29764 0 4.54023E-5
1-55096537-G-A p.Ser587Asn missense ACOT11 5 58434 8.55666E-5 29217 0 1.51774E-4
1-55096548-G-A p.Ala591Thr missense ACOT11 1 58006 1.72396E-5 29003 0 4.45276E-5
1-55096555-C-G p.Pro593Arg missense ACOT11 1 57608 1.73587E-5 28804 0 2.51724E-5
1-55096557-G-A p.Val594Met missense+splice_region ACOT11 8 57544 1.39024E-4 28772 0 2.5481E-4
1-55096559-GGTGA-G c.1782+1_1782+4delGTGA splice_donor ACOT11 2 57534 3.47621E-5 28767 0 NA
1-55096564-G-C c.1782+5G>C splice_region ACOT11 1 57270 1.74611E-5 28635 0 NA
1-55100375-C-A p.Ser599Arg missense ACOT11 2 50090 3.99281E-5 25045 0 NA
1-55100377-G-A p.Arg600Gln missense ACOT11 1 50192 1.99235E-5 25096 0 6.37024E-5
1-55100386-AC-A p.Leu604fs frameshift ACOT11 1 50572 1.97738E-5 25286 0 NA
1-55100396-C-T p.Asp606Asp synonymous ACOT11 1 50814 1.96796E-5 25407 0 NA
1-55100397-A-T p.Thr607Ser missense ACOT11 2 50882 3.93066E-5 25441 0 1.04984E-4
1-55100397-AC-A p.Ter608fs frameshift ACOT11 2 50882 3.93066E-5 25441 0 3.74942E-5