Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-58490864-C-G c.*87G>C splice_region ACOX2 1 78440 1.27486E-5 39220 0 NA
3-58490953-A-G p.Ter682Argext*? stop_lost ACOX2 1 80806 1.23753E-5 40403 0 3.98924E-6
3-58490986-T-C p.Arg671Gly missense ACOX2 1 80790 1.23778E-5 40395 0 8.23954E-6
3-58490992-A-G p.Tyr669His missense ACOX2 1 80770 1.23808E-5 40385 0 NA
3-58490993-T-A p.Glu668Asp missense ACOX2 2 80760 2.47647E-5 40380 0 1.64788E-5
3-58491010-TCTC-T p.Glu662del conservative_inframe_deletion ACOX2 2 80716 2.47782E-5 40358 0 6.36821E-5
3-58491011-C-T p.Glu662Glu splice_region+synonymous ACOX2 1 80726 1.23876E-5 40363 0 NA
3-58491013-C-A p.Glu662* stop_gained ACOX2 1 80710 1.239E-5 40355 0 NA
3-58491017-T-G c.1984-4A>C splice_region ACOX2 1 80724 1.23879E-5 40362 0 2.01275E-5
3-58494612-T-C c.1983+8A>G splice_region ACOX2 1 80962 1.23515E-5 40481 0 3.1835E-5
3-58494613-C-T c.1983+7G>A splice_region ACOX2 6 80966 7.41052E-5 40483 1 1.51232E-4
3-58494613-C-G c.1983+7G>C splice_region ACOX2 1 80966 1.23509E-5 40483 0 7.16361E-5
3-58494620-C-G p.Gln661His missense+splice_region ACOX2 1 80986 1.23478E-5 40493 0 NA
3-58494626-A-G p.Asn659Asn synonymous ACOX2 1 80998 1.2346E-5 40499 0 NA
3-58494641-C-T p.Gln654Gln synonymous ACOX2 1 81014 1.23435E-5 40507 0 3.1839E-5
3-58494643-G-A p.Gln654* stop_gained ACOX2 1 81010 1.23442E-5 40505 0 1.59096E-5
3-58494660-C-T p.Arg648His missense ACOX2 2 81010 2.46883E-5 40505 0 1.98867E-5
3-58494664-C-T p.Glu647Lys missense ACOX2 6 81012 7.40631E-5 40506 0 6.76127E-5
3-58494665-G-A p.Tyr646Tyr synonymous ACOX2 7 81006 8.64134E-5 40503 0 4.11875E-5
3-58494675-C-T p.Gly643Glu missense ACOX2 1 81010 1.23442E-5 40505 0 8.23737E-6
3-58494680-A-G p.Tyr641Tyr synonymous ACOX2 11 81008 1.35789E-4 40504 0 1.90891E-4
3-58494682-A-G p.Tyr641His missense ACOX2 3 81012 3.70316E-5 40506 0 6.3674E-5
3-58494690-A-C p.Leu638Arg missense ACOX2 3 81010 3.70325E-5 40505 0 1.5908E-5
3-58494712-C-G p.Asp631His missense ACOX2 1 80974 1.23496E-5 40487 0 7.95507E-6
3-58494713-G-A p.Thr630Thr synonymous ACOX2 1 80974 1.23496E-5 40487 0 2.47117E-5
3-58494738-AG-A p.Leu622fs frameshift ACOX2 1 80930 1.23564E-5 40465 0 NA
3-58494740-G-A p.Pro91Ser missense ACOX2 1 80936 1.23554E-5 40468 0 NA
3-58494742-T-C p.Ile621Val missense ACOX2 1 80932 1.23561E-5 40466 0 NA
3-58494748-C-A p.Asp619Tyr missense ACOX2 5 80920 6.17894E-5 40460 0 NA
3-58496709-C-A p.Glu85Asp missense ACOX2 1 51956 1.92471E-5 25978 0 NA
3-58496738-C-T p.Val76Met missense ACOX2 1 51980 1.92382E-5 25990 0 7.43196E-6
3-58496743-C-T p.Gly74Glu missense ACOX2 1 51978 1.92389E-5 25989 0 NA
3-58496750-C-T p.Glu72Lys missense ACOX2 6 51978 1.15433E-4 25989 0 1.2747E-4
3-58496756-C-T p.Ala70Thr missense ACOX2 1 51986 1.92359E-5 25993 0 6.3743E-5
3-58496771-A-G p.Cys65Arg missense ACOX2 1 52136 1.91806E-5 26068 0 8.10898E-5
3-58502933-C-T p.Arg617Gln missense+splice_region ACOX2 4 80784 4.95148E-5 40392 0 5.04032E-4
3-58502934-G-A p.Arg617Trp missense+splice_region ACOX2 4 80814 4.94964E-5 40407 0 9.55597E-5
3-58502943-G-A p.Arg614Cys missense ACOX2 7 80890 8.65373E-5 40445 0 5.88741E-4
3-58502962-T-C p.Thr607Thr synonymous ACOX2 1 80972 1.23499E-5 40486 0 3.18152E-5
3-58502963-G-C p.Thr607Arg missense ACOX2 3 80976 3.7048E-5 40488 0 6.37227E-5
3-58502976-C-T p.Asp603Asn missense ACOX2 1 80994 1.23466E-5 40497 0 NA
3-58502999-G-C p.Ala595Gly missense ACOX2 3 81038 3.70197E-5 40519 0 3.18532E-5
3-58503000-C-A p.Ala595Ser missense ACOX2 1 81036 1.23402E-5 40518 0 NA
3-58503001-G-A p.Asp594Asp synonymous ACOX2 7 81034 8.63835E-5 40517 0 1.59317E-4
3-58503004-A-T p.His593Gln missense ACOX2 2 81040 2.46792E-5 40520 0 NA
3-58503005-T-C p.His593Arg missense ACOX2 3 81038 3.70197E-5 40519 0 3.18654E-5
3-58503019-C-T p.Ser588Ser synonymous ACOX2 28 81036 3.45525E-4 40518 0 3.18613E-4
3-58503022-G-C p.Asn587Lys missense ACOX2 1 81040 1.23396E-5 40520 0 1.98826E-5
3-58503039-G-A p.His582Tyr missense ACOX2 2 81044 2.4678E-5 40522 0 NA
3-58503050-A-G p.Leu578Pro missense ACOX2 1 81036 1.23402E-5 40518 0 NA
3-58503062-C-T p.Arg574His missense ACOX2 2 81034 2.4681E-5 40517 0 3.18492E-5
3-58503063-G-A p.Arg574Cys missense ACOX2 44 81032 5.42995E-4 40516 0 7.0086E-4
3-58503075-G-A p.Gln570* stop_gained ACOX2 2 81044 2.4678E-5 40522 0 NA
3-58503081-TC-T p.Ile568fs frameshift ACOX2 1 81040 1.23396E-5 40520 0 NA
3-58503082-C-T p.Ala567Ala synonymous ACOX2 1 81042 1.23393E-5 40521 0 3.18532E-5
3-58503083-G-A p.Ala567Val missense ACOX2 3 81036 3.70206E-5 40518 0 1.19302E-5
3-58503083-G-GAAC p.Ala567delinsGlySer conservative_inframe_insertion ACOX2 1 81036 1.23402E-5 40518 0 NA
3-58503090-C-G p.Glu565Gln missense ACOX2 12 81042 1.48071E-4 40521 0 3.62414E-4
3-58503105-C-G p.Glu560Gln missense ACOX2 1 81026 1.23417E-5 40513 0 NA
3-58503123-C-T p.Gly554Ser missense ACOX2 1 81016 1.23432E-5 40508 0 NA
3-58503131-G-A p.Thr551Ile missense ACOX2 4 81012 4.93754E-5 40506 0 2.22958E-4
3-58503136-A-G p.Tyr549Tyr synonymous ACOX2 1 81006 1.23448E-5 40503 0 8.23873E-6
3-58503149-A-G p.Val545Ala missense+splice_region ACOX2 1 80946 1.23539E-5 40473 0 3.97836E-6
3-58508216-C-T c.1632+7G>A splice_region ACOX2 2 80630 2.48047E-5 40315 0 3.18674E-5
3-58508217-G-A c.1632+6C>T splice_region ACOX2 71 80656 8.80282E-4 40328 0 8.84328E-4
3-58508220-C-T c.1632+3G>A splice_region ACOX2 1 80694 1.23925E-5 40347 0 3.18654E-5
3-58508240-G-A p.His539Tyr missense ACOX2 1 80886 1.23631E-5 40443 0 NA
3-58508242-A-G p.Ile538Thr missense ACOX2 1 80916 1.23585E-5 40458 0 3.97671E-6
3-58508244-G-A p.Val537Val synonymous ACOX2 2 80918 2.47164E-5 40459 0 7.95336E-6
3-58508246-C-A p.Val537Phe missense ACOX2 1 80932 1.23561E-5 40466 0 3.97665E-6
3-58508262-A-C p.Ala531Ala synonymous ACOX2 1 81016 1.23432E-5 40508 0 8.23696E-6
3-58508267-C-T p.Glu530Lys missense ACOX2 3 81032 3.70224E-5 40516 0 3.18674E-5
3-58508267-C-G p.Glu530Gln missense ACOX2 4 81032 4.93632E-5 40516 0 3.18674E-5
3-58508268-G-A p.His529His synonymous ACOX2 1 81030 1.23411E-5 40515 0 5.76578E-5
3-58508273-G-C p.Gln528Glu missense ACOX2 77 81038 9.50171E-4 40519 1 6.08398E-4
3-58508283-G-A p.Ser524Ser synonymous ACOX2 2 81044 2.4678E-5 40522 0 1.27486E-4
3-58508289-C-T p.Thr522Thr synonymous ACOX2 2 81042 2.46786E-5 40521 0 1.98826E-5
3-58508304-A-G p.His517His synonymous ACOX2 1 81026 1.23417E-5 40513 0 NA
3-58508311-A-G p.Val515Ala missense ACOX2 1 81034 1.23405E-5 40517 0 8.23737E-6
3-58508316-G-A p.Asp513Asp synonymous ACOX2 1 81036 1.23402E-5 40518 0 8.2375E-6
3-58508318-C-T p.Asp513Asn missense ACOX2 3 81016 3.70297E-5 40508 0 8.23873E-6
3-58508322-T-C p.Ile511Met missense ACOX2 1 81012 1.23439E-5 40506 0 4.1195E-5
3-58508324-T-A p.Ile511Leu missense ACOX2 1 81014 1.23435E-5 40507 0 3.9769E-6
3-58510153-C-A p.Arg509Met missense+splice_region ACOX2 1 80720 1.23885E-5 40360 0 6.36902E-5
3-58510182-G-A p.Tyr499Tyr synonymous ACOX2 2 80864 2.47329E-5 40432 0 NA
3-58510187-G-A p.Leu498Phe missense ACOX2 2 80874 2.47298E-5 40437 0 8.29917E-6
3-58510189-T-C p.Glu497Gly missense ACOX2 1 80866 1.23661E-5 40433 0 NA
3-58510191-C-T c.*543G>A splice_region ACOX2 3 80866 3.70984E-5 40433 0 1.35217E-4
3-58510192-G-A p.Pro496Leu missense ACOX2 1 80866 1.23661E-5 40433 0 1.64894E-5
3-58510194-G-A p.Cys495Cys synonymous ACOX2 11 80860 1.36038E-4 40430 0 7.63875E-4
3-58510212-C-T p.Arg489Arg synonymous ACOX2 1 80878 1.23643E-5 40439 0 8.24008E-6
3-58510244-C-T p.Ala479Thr missense ACOX2 2 80872 2.47304E-5 40436 0 2.47194E-5
3-58510245-G-A p.Thr478Thr synonymous ACOX2 3 80864 3.70993E-5 40432 0 3.29592E-5
3-58510256-C-T p.Ala475Thr missense ACOX2 1 80840 1.23701E-5 40420 0 1.19336E-5
3-58510257-G-A p.Val474Val synonymous ACOX2 1 80844 1.23695E-5 40422 0 4.11991E-5
3-58510261-G-C p.Ser473Cys missense ACOX2 2 80856 2.47353E-5 40428 0 NA
3-58510269-G-A p.Leu470Leu synonymous ACOX2 1 80852 1.23683E-5 40426 0 3.97766E-6
3-58510284-C-T p.Thr465Thr synonymous ACOX2 1 80776 1.23799E-5 40388 0 6.37227E-5
3-58510319-T-C p.Ser454Gly missense ACOX2 1 80552 1.24143E-5 40276 0 6.37267E-5
3-58510320-C-T p.Lys453Lys synonymous ACOX2 1 80544 1.24156E-5 40272 0 NA
3-58510322-T-C p.Lys453Glu missense ACOX2 1 80482 1.24251E-5 40241 0 NA
3-58510326-C-T p.Leu451Leu synonymous ACOX2 1 80422 1.24344E-5 40211 0 6.36862E-5
3-58512185-G-C c.1346+8C>G splice_region ACOX2 1 79460 1.25849E-5 39730 0 NA
3-58512198-C-T p.Val447Val synonymous ACOX2 5 79698 6.27368E-5 39849 0 9.55657E-5
3-58512209-A-G p.Tyr444His missense ACOX2 1 79926 1.25116E-5 39963 0 4.00856E-6
3-58512219-GT-G p.Asn440fs frameshift ACOX2 1 80064 1.249E-5 40032 0 NA
3-58512227-C-T p.Gly438Ser missense ACOX2 1 80124 1.24807E-5 40062 0 NA
3-58512230-C-T p.Glu437Lys missense ACOX2 2 80146 2.49545E-5 40073 0 1.99413E-5
3-58512233-AG-A p.Tyr436fs frameshift ACOX2 1 80208 1.24676E-5 40104 0 NA
3-58512234-G-A n.563C>T splice_region ACOX2 1 80242 1.24623E-5 40121 0 NA
3-58512237-A-G p.Cys434Cys synonymous ACOX2 14190 79748 0.177935 39874 2264 0.243907
3-58512240-G-A p.Ser433Ser synonymous ACOX2 1 80238 1.24629E-5 40119 0 8.29683E-6
3-58512246-C-T p.Ser431Ser synonymous ACOX2 2 80220 2.49314E-5 40110 0 1.27494E-4
3-58512247-G-A p.Ser431Leu missense ACOX2 1 80228 1.24645E-5 40114 0 3.31126E-5
3-58512251-A-G p.Leu430Leu synonymous ACOX2 1 80282 1.24561E-5 40141 0 7.96318E-6
3-58512260-C-T p.Val427Ile missense ACOX2 3 80346 3.73385E-5 40173 0 1.65256E-5
3-58512267-T-C p.Pro424Pro synonymous ACOX2 1 80380 1.24409E-5 40190 0 3.98023E-6
3-58512285-T-C p.Ser418Ser synonymous ACOX2 4546 80214 0.0566734 40107 159 0.0650108
3-58512293-CA-AT p.HisGly415GlnCys missense ACOX2 1 80500 1.24224E-5 40250 0 NA
3-58512295-T-C p.His415Arg missense ACOX2 1 80500 1.24224E-5 40250 0 8.24457E-6
3-58512302-C-T p.Gly413Ser missense ACOX2 3 80506 3.72643E-5 40253 0 3.97836E-6
3-58512313-C-T p.Arg409His missense ACOX2 7 80430 8.70322E-5 40215 0 1.91095E-4
3-58512314-G-A p.Arg409Cys missense ACOX2 3 80436 3.72967E-5 40218 0 5.76996E-5
3-58512323-C-G p.Glu406Gln missense ACOX2 11 80416 1.36789E-4 40208 0 2.86661E-4
3-58512353-T-C p.Met396Val missense ACOX2 9 79966 1.12548E-4 39983 0 6.16753E-4
3-58512363-G-A p.Gly392Gly synonymous ACOX2 1 79530 1.25739E-5 39765 0 NA
3-58512366-C-T p.Thr391Thr synonymous ACOX2 1 79412 1.25926E-5 39706 0 3.98311E-6
3-58512368-T-A p.Thr391Ser missense ACOX2 1 79334 1.26049E-5 39667 0 3.98238E-6
3-58512375-T-C p.Ala388Ala synonymous ACOX2 6624 78206 0.0846994 39103 475 0.14375
3-58512381-G-C p.Leu386Leu splice_region+synonymous ACOX2 1 78534 1.27333E-5 39267 0 1.19845E-5
3-58512384-C-A c.1156-1G>T splice_acceptor ACOX2 1 78292 1.27727E-5 39146 0 6.37105E-5
3-58512386-G-C c.1156-3C>G splice_region ACOX2 2 78158 2.55892E-5 39079 0 1.60056E-5
3-58512386-G-A c.1156-3C>T splice_region ACOX2 1 78158 1.27946E-5 39079 0 8.39123E-6
3-58512388-G-A c.1156-5C>T splice_region ACOX2 3 77992 3.84655E-5 38996 0 8.40477E-6
3-58512391-A-T c.1156-8T>A splice_region ACOX2 1 77728 1.28654E-5 38864 0 2.00293E-5
3-58514532-A-G p.Phe382Leu missense ACOX2 1 81038 1.23399E-5 40519 0 NA
3-58514542-T-G p.Gln378His missense ACOX2 1 81062 1.23362E-5 40531 0 4.02359E-6
3-58514553-T-C p.Ile375Val missense ACOX2 1 81066 1.23356E-5 40533 0 NA
3-58514557-A-G p.Thr373Thr synonymous ACOX2 2 81062 2.46725E-5 40531 0 NA
3-58514571-G-A p.Gln369* stop_gained ACOX2 1 81072 1.23347E-5 40536 0 NA
3-58514581-C-T p.Leu365Leu synonymous ACOX2 2 81074 2.46688E-5 40537 0 NA
3-58514583-A-G p.Leu365Leu synonymous ACOX2 1 81072 1.23347E-5 40536 0 1.59307E-5
3-58514584-GA-G p.Leu364fs frameshift ACOX2 1 81074 1.23344E-5 40537 0 NA
3-58514586-G-C p.Leu364Val missense ACOX2 8 81072 9.86777E-5 40536 0 9.5511E-5
3-58514589-T-A p.Ser363Cys missense ACOX2 1 81080 1.23335E-5 40540 0 6.25E-4
3-58514611-A-G p.Tyr355Tyr synonymous ACOX2 2 81078 2.46676E-5 40539 0 3.984E-6
3-58514614-A-T p.Ser354Arg missense ACOX2 1 81086 1.23326E-5 40543 0 3.18451E-5
3-58514619-T-C p.Ile353Val missense ACOX2 1 81090 1.2332E-5 40545 0 NA
3-58514623-C-T p.Leu351Leu synonymous ACOX2 8 81090 9.86558E-5 40545 0 0.00125
3-58514632-A-G p.Phe348Phe synonymous ACOX2 1 81096 1.23311E-5 40548 0 NA
3-58514646-G-A p.Gln344* stop_gained ACOX2 1 81086 1.23326E-5 40543 0 3.18532E-5
3-58514668-C-T p.Lys336Lys synonymous ACOX2 1 81070 1.2335E-5 40535 0 3.18512E-5
3-58516199-C-T p.Arg329Gln missense ACOX2 9 79336 1.13442E-4 39668 0 3.18532E-5
3-58516200-G-A p.Arg329Trp missense ACOX2 2 79462 2.51693E-5 39731 0 3.19977E-5
3-58516203-GC-G p.Leu328fs frameshift ACOX2 1 79586 1.2565E-5 39793 0 NA
3-58516205-C-G p.Arg327Pro missense ACOX2 1 79652 1.25546E-5 39826 0 NA
3-58516205-C-T p.Arg327Gln missense ACOX2 1 79652 1.25546E-5 39826 0 5.80922E-5
3-58516210-T-C p.Gln325Gln synonymous ACOX2 1 79940 1.25094E-5 39970 0 3.99227E-6
3-58516214-C-T p.Arg324His missense ACOX2 1 79974 1.25041E-5 39987 0 5.03525E-4
3-58516217-C-T p.Arg323His missense ACOX2 11 79998 1.37503E-4 39999 0 5.03525E-4
3-58516221-T-C p.Ile322Val missense ACOX2 2 80156 2.49513E-5 40078 0 3.30278E-5
3-58516223-A-T p.Val321Asp missense ACOX2 1 80220 1.24657E-5 40110 0 NA
3-58516225-C-T p.Ser320Ser synonymous ACOX2 1 80286 1.24555E-5 40143 0 1.19598E-5
3-58516227-A-G p.Ser320Pro missense ACOX2 1 80308 1.24521E-5 40154 0 NA
3-58516232-C-T p.Arg318His missense ACOX2 6 80394 7.46324E-5 40197 0 4.38244E-5
3-58516233-G-T p.Arg318Ser missense ACOX2 1 80442 1.24313E-5 40221 0 NA
3-58516235-A-G p.Met317Thr missense ACOX2 7 80508 8.69479E-5 40254 0 5.17747E-5
3-58516239-C-T p.Ala316Thr missense ACOX2 29 80536 3.60087E-4 40268 0 7.64867E-4
3-58516248-A-G p.Cys313Arg missense ACOX2 1 80716 1.23891E-5 40358 0 NA
3-58516250-G-T p.Ala312Asp missense ACOX2 2 80704 2.47819E-5 40352 0 8.24674E-6
3-58516258-C-T p.Leu309Leu synonymous ACOX2 1 80760 1.23824E-5 40380 0 NA
3-58516264-A-G p.Pro307Pro synonymous ACOX2 1 80796 1.23769E-5 40398 0 NA
3-58516267-G-A p.Leu306Leu synonymous ACOX2 1 80790 1.23778E-5 40395 0 6.37064E-5
3-58516288-CT-C p.Glu299fs frameshift ACOX2 1 80848 1.23689E-5 40424 0 NA
3-58516295-C-T p.Arg297Gln missense ACOX2 2 80846 2.47384E-5 40423 0 3.30491E-5
3-58516296-G-A p.Arg297Trp missense ACOX2 1 80848 1.23689E-5 40424 0 8.26269E-6
3-58516299-C-T p.Val296Met missense ACOX2 9 80858 1.11306E-4 40429 0 1.91119E-4
3-58516301-A-G p.Val295Ala missense ACOX2 3 80864 3.70993E-5 40432 0 NA
3-58516301-A-T p.Val295Glu missense ACOX2 2 80864 2.47329E-5 40432 0 NA
3-58516307-A-G p.Met293Thr missense ACOX2 1 80866 1.23661E-5 40433 0 2.48073E-5
3-58516318-G-A p.Asn289Asn synonymous ACOX2 15 80876 1.85469E-4 40438 1 9.94898E-4
3-58516335-C-T p.Gly284Ser missense ACOX2 37 80828 4.57762E-4 40414 1 8.91549E-4
3-58516336-G-A p.Leu283Leu synonymous ACOX2 4 80824 4.94902E-5 40412 0 7.9694E-6
3-58516344-C-T p.Val281Ile missense ACOX2 24 80786 2.97081E-4 40393 0 0.00125
3-58516345-G-A p.Tyr280Tyr synonymous ACOX2 11 80778 1.36176E-4 40389 0 3.35858E-4
3-58516349-G-T p.Thr279Asn missense ACOX2 10 80766 1.23814E-4 40383 0 1.43361E-4
3-58516355-T-C p.Asp277Gly missense ACOX2 2 80746 2.4769E-5 40373 0 3.99218E-6
3-58516973-G-A c.819+5C>T splice_region ACOX2 1 80806 1.23753E-5 40403 0 8.31767E-6
3-58516975-A-G c.819+3T>C splice_region ACOX2 1 80824 1.23726E-5 40412 0 1.19456E-5
3-58516976-AC-A c.819+1delG splice_donor ACOX2 1 80852 1.23683E-5 40426 0 NA
3-58516983-C-A p.Ala272Ser missense ACOX2 1 80906 1.236E-5 40453 0 NA
3-58516986-A-AGC p.Phe271fs frameshift ACOX2 2 80946 2.47078E-5 40473 0 3.97883E-6
3-58516988-C-T p.Arg270His missense ACOX2 2 80936 2.47109E-5 40468 0 3.18552E-5
3-58516999-G-T p.Asn266Lys missense ACOX2 2 81020 2.46853E-5 40510 0 1.6494E-5
3-58517010-G-T p.Pro263Thr missense ACOX2 1 81036 1.23402E-5 40518 0 NA
3-58517016-G-A p.Arg261Trp missense ACOX2 31 81044 3.82508E-4 40522 0 6.25E-4
3-58517020-A-G p.His259His splice_region+synonymous ACOX2 1 81038 1.23399E-5 40519 0 7.95336E-6
3-58517035-G-C p.Phe254Leu missense ACOX2 1 81050 1.23381E-5 40525 0 NA
3-58517042-T-C p.Asn252Ser missense ACOX2 2 81052 2.46755E-5 40526 0 NA
3-58517048-G-A p.Gln101* stop_gained ACOX2 2 81040 2.46792E-5 40520 0 3.97655E-6
3-58517053-A-C p.Asp248Glu missense ACOX2 1 81042 1.23393E-5 40521 0 NA
3-58517063-A-C p.Met245Arg missense ACOX2 1 81036 1.23402E-5 40518 0 NA
3-58517065-C-T p.Arg95Lys missense ACOX2 1 81034 1.23405E-5 40517 0 3.97684E-6
3-58517073-C-T p.Gly242Arg missense ACOX2 5 81026 6.17086E-5 40513 0 6.60327E-5
3-58517074-G-A p.Ser92Leu missense ACOX2 2 81026 2.46834E-5 40513 0 9.55536E-5
3-58517078-T-G p.Asp240Ala missense ACOX2 1 81018 1.23429E-5 40509 0 3.97795E-6
3-58517084-A-G p.Ile238Thr missense ACOX2 252 81006 0.00311088 40503 0 0.00678171
3-58517095-T-C c.704-2A>G splice_acceptor ACOX2 2 80988 2.4695E-5 40494 0 NA
3-58517096-T-G p.Lys85Gln missense ACOX2 1 80992 1.23469E-5 40496 0 1.6794E-5
3-58517101-G-C p.Ser83Cys missense ACOX2 1 80964 1.23512E-5 40482 0 7.56586E-5
3-58517105-T-C p.Ile82Val missense ACOX2 1 80956 1.23524E-5 40478 0 1.27429E-4
3-58517112-G-A p.Leu79Leu synonymous ACOX2 5 80910 6.17971E-5 40455 0 1.73928E-5
3-58517117-C-T p.Val78Ile missense+splice_region ACOX2 94 80868 0.00116239 40434 0 0.00153666
3-58517449-C-T p.Arg225Gln missense ACOX2 7 80762 8.66744E-5 40381 0 1.15678E-4
3-58517450-G-A p.Arg225Trp missense ACOX2 47 80754 5.82015E-4 40377 0 3.18271E-4
3-58517467-G-T p.Ala219Asp missense ACOX2 1 80710 1.239E-5 40355 0 NA
3-58517468-C-T p.Ala219Thr missense ACOX2 1 80698 1.23919E-5 40349 0 1.98916E-5
3-58517469-G-A p.His218His synonymous ACOX2 10 80704 1.2391E-4 40352 0 1.59307E-4
3-58517479-C-T p.Arg215Gln missense ACOX2 1 80660 1.23977E-5 40330 0 1.19359E-5
3-58517480-G-A p.Arg215Trp missense ACOX2 27 80678 3.34664E-4 40339 0 2.23163E-4
3-58517491-G-A p.Ser211Leu missense ACOX2 34 80658 4.21533E-4 40329 0 2.42717E-4
3-58517503-T-C p.Gln207Arg missense ACOX2 1 80598 1.24073E-5 40299 0 NA
3-58517519-C-A p.Ala202Ser missense ACOX2 1 80506 1.24214E-5 40253 0 NA
3-58517519-C-T p.Ala202Thr missense ACOX2 1 80506 1.24214E-5 40253 0 NA
3-58517520-A-G p.His201His synonymous ACOX2 3648 80396 0.0453754 40198 171 0.0790534
3-58517529-T-C p.Ser198Ser synonymous ACOX2 2 80404 2.48744E-5 40202 0 2.50534E-5
3-58517532-C-A p.Arg197Arg synonymous ACOX2 1 80362 1.24437E-5 40181 0 NA
3-58517533-C-T p.Arg197Gln missense ACOX2 5 80338 6.2237E-5 40169 0 1.67423E-5
3-58517534-G-A p.Arg197Trp missense ACOX2 18 80310 2.24131E-4 40155 0 2.68101E-4
3-58517537-C-T p.Gly196Arg missense+splice_region ACOX2 1 80278 1.24567E-5 40139 0 8.39391E-6
3-58517547-C-T c.584-8G>A splice_region ACOX2 4 80094 4.99413E-5 40047 1 NA
3-58519186-C-T p.Trp190* stop_gained ACOX2 1 80798 1.23765E-5 40399 0 NA
3-58519197-A-G p.Thr186Thr synonymous ACOX2 1 80858 1.23674E-5 40429 0 NA
3-58519203-C-T p.Thr184Thr synonymous ACOX2 3 80910 3.70782E-5 40455 0 4.94283E-5
3-58519204-G-A p.Thr184Met missense ACOX2 9 80918 1.11224E-4 40459 0 6.59011E-5
3-58519204-G-C p.Thr184Arg missense ACOX2 6 80918 7.41491E-5 40459 0 6.25E-4
3-58519216-A-G p.Ile180Thr missense ACOX2 1 80980 1.23487E-5 40490 0 NA
3-58519224-C-T p.Glu177Glu synonymous ACOX2 1 81000 1.23457E-5 40500 0 NA
3-58519227-CT-C p.Gln176fs frameshift ACOX2 1 81000 1.23457E-5 40500 0 NA
3-58519233-G-A p.Ala174Ala synonymous ACOX2 1 80986 1.23478E-5 40493 0 NA
3-58519239-G-A p.Asp172Asp synonymous ACOX2 3 80982 3.70453E-5 40491 0 9.56084E-5
3-58519267-T-G p.Gln163Pro missense ACOX2 2 80872 2.47304E-5 40436 0 1.64878E-5
3-58519274-A-G p.Tyr161His missense ACOX2 1 80808 1.2375E-5 40404 0 1.64924E-5
3-58519275-T-C p.Thr160Thr synonymous ACOX2 1 80810 1.23747E-5 40405 0 NA
3-58519276-G-A p.Thr160Ile missense ACOX2 1 80800 1.23762E-5 40400 0 NA
3-58519278-C-G p.Gly159Gly splice_region+synonymous ACOX2 1 80784 1.23787E-5 40392 0 3.98203E-6
3-58519717-T-G c.475+4A>C splice_region ACOX2 11 80986 1.35826E-4 40493 0 6.37146E-5
3-58519728-C-T p.Leu156Leu synonymous ACOX2 8 81010 9.87532E-5 40505 0 8.2481E-6
3-58519730-A-G p.Leu156Leu synonymous ACOX2 1 81018 1.23429E-5 40509 0 3.19101E-5
3-58519731-CTCTG-C p.Thr154fs frameshift ACOX2 142 81018 0.0017527 40509 0 0.00321656
3-58519739-G-A p.Gln153* stop_gained ACOX2 1 81032 1.23408E-5 40516 0 3.97684E-6
3-58519744-T-A p.Tyr151Phe missense ACOX2 1 81036 1.23402E-5 40518 0 3.18573E-5
3-58519746-C-T p.Thr150Thr synonymous ACOX2 4 81046 4.93547E-5 40523 0 5.03525E-4
3-58519746-C-A p.Thr150Thr synonymous ACOX2 1 81046 1.23387E-5 40523 0 NA
3-58519747-G-A p.Thr150Met missense ACOX2 2 81050 2.46761E-5 40525 0 4.9434E-5
3-58519751-C-T p.Ala149Thr missense ACOX2 3 81044 3.70169E-5 40522 0 2.54972E-4
3-58519752-G-A p.Ile148Ile synonymous ACOX2 1 81048 1.23384E-5 40524 0 3.57898E-5
3-58519764-G-A p.Asn144Asn synonymous ACOX2 3 81062 3.70087E-5 40531 0 6.58968E-5
3-58519766-T-C p.Asn144Asp missense ACOX2 1 81062 1.23362E-5 40531 0 8.23696E-6
3-58519773-G-A p.Leu141Leu synonymous ACOX2 2 81068 2.46706E-5 40534 0 1.35201E-4
3-58519776-T-G p.Pro140Pro synonymous ACOX2 1 81066 1.23356E-5 40533 0 6.3743E-5
3-58519777-G-A p.Pro140Leu missense ACOX2 1 81070 1.2335E-5 40535 0 3.9764E-6
3-58519778-G-A p.Pro140Ser missense ACOX2 1 81070 1.2335E-5 40535 0 NA
3-58519786-T-C p.Lys137Arg missense ACOX2 1 81076 1.23341E-5 40538 0 3.18613E-5
3-58519796-G-T p.Gln134Lys missense ACOX2 3 81080 3.70005E-5 40540 0 8.23655E-6
3-58519799-C-A p.Glu133* stop_gained ACOX2 1 81078 1.23338E-5 40539 0 NA
3-58519807-C-T p.Gly130Asp missense ACOX2 10 81076 1.23341E-4 40538 0 8.23655E-6
3-58519810-A-C p.Leu129Arg missense ACOX2 2 81074 2.46688E-5 40537 0 1.19292E-5
3-58519824-TCTCA-T p.Val123fs frameshift ACOX2 1 81064 1.23359E-5 40532 0 6.37389E-5
3-58519825-C-T p.Arg124Lys missense ACOX2 9 81068 1.11018E-4 40534 0 1.27437E-4
3-58519829-C-T p.Val123Met missense ACOX2 7 81062 8.63537E-5 40531 0 0.00125
3-58519829-C-G p.Val123Leu missense ACOX2 1 81062 1.23362E-5 40531 0 NA
3-58519830-G-A p.Phe122Phe synonymous ACOX2 1 81066 1.23356E-5 40533 0 NA
3-58519834-ACT-A p.Arg120fs frameshift ACOX2 1 81066 1.23356E-5 40533 0 5.03525E-4
3-58519834-A-G p.Val121Ala missense ACOX2 1 81066 1.23356E-5 40533 0 NA
3-58519854-C-T p.Val114Val synonymous ACOX2 1 81060 1.23365E-5 40530 0 NA
3-58519856-C-T p.Val114Met missense ACOX2 8 81044 9.87118E-5 40522 0 7.95678E-5
3-58519857-G-A p.Asp113Asp synonymous ACOX2 49 81042 6.04625E-4 40521 0 2.54891E-4
3-58519867-AG-A p.Leu110fs frameshift ACOX2 1 81022 1.23423E-5 40511 0 3.18593E-5
3-58519876-T-C c.324-4A>G splice_region ACOX2 12 80998 1.48152E-4 40499 0 8.25777E-5
3-58520084-C-CACCT c.322_323+2dupAGGT splice_donor ACOX2 2 81068 2.46706E-5 40534 0 1.65235E-5
3-58520085-A-G c.323+2T>C splice_donor ACOX2 4 81066 4.93425E-5 40533 1 2.47754E-5
3-58520091-A-G p.Tyr107His missense ACOX2 3 81072 3.70041E-5 40536 0 3.97801E-6
3-58520092-A-G p.Ala106Ala synonymous ACOX2 1 81076 1.23341E-5 40538 0 NA
3-58520093-G-A p.Ala106Val missense ACOX2 1 81074 1.23344E-5 40537 0 2.78441E-5
3-58520094-C-T p.Ala106Thr missense ACOX2 2 81076 2.46682E-5 40538 0 7.55894E-5
3-58520095-G-A p.Tyr105Tyr synonymous ACOX2 9 81076 1.11007E-4 40538 0 1.59378E-4
3-58520108-C-T p.Arg101His missense ACOX2 1 81088 1.23323E-5 40544 0 2.47202E-5
3-58520109-G-A p.Arg101Cys missense ACOX2 1 81084 1.23329E-5 40542 0 3.97697E-6
3-58520119-T-C p.Leu97Leu synonymous ACOX2 4 81094 4.93255E-5 40547 0 8.23764E-6
3-58520120-A-C p.Leu97* stop_gained ACOX2 1 81092 1.23317E-5 40546 0 NA
3-58520125-A-G p.Gly95Gly synonymous ACOX2 1 81098 1.23308E-5 40549 0 NA
3-58520131-G-A p.Arg93Arg synonymous ACOX2 3 81092 3.6995E-5 40546 0 8.23723E-6
3-58520132-C-T p.Arg93His missense ACOX2 3 81092 3.6995E-5 40546 0 6.37267E-5
3-58520135-C-T p.Arg92Gln missense ACOX2 3 81092 3.6995E-5 40546 0 9.06066E-5
3-58520141-A-G p.Ile90Thr missense ACOX2 1 81092 1.23317E-5 40546 0 4.11841E-5
3-58520141-A-T p.Ile90Lys missense ACOX2 1 81092 1.23317E-5 40546 0 8.23683E-6
3-58520145-A-G p.Leu89Leu synonymous ACOX2 1 81098 1.23308E-5 40549 0 1.64737E-5
3-58520147-C-T p.Arg88Gln missense ACOX2 4 81098 4.9323E-5 40549 0 3.18119E-5
3-58520159-G-A p.Ala84Val missense ACOX2 1 81094 1.23314E-5 40547 0 3.18532E-5
3-58520162-C-T p.Arg83Lys missense ACOX2 1 81098 1.23308E-5 40549 0 8.23683E-6
3-58520165-C-T p.Arg82Gln missense ACOX2 7 81098 8.63153E-5 40549 0 5.03525E-4
3-58520166-G-A p.Arg82Trp missense ACOX2 3 81092 3.6995E-5 40546 0 3.29468E-5
3-58520166-G-C p.Arg82Gly missense ACOX2 2 81092 2.46633E-5 40546 1 NA
3-58520168-A-G p.Met81Thr missense ACOX2 1 81090 1.2332E-5 40545 0 3.97633E-6
3-58520180-T-C p.Tyr77Cys missense ACOX2 1 81096 1.23311E-5 40548 0 8.23655E-6
3-58520183-C-T p.Arg76His missense ACOX2 2 81092 2.46633E-5 40546 0 8.23655E-6
3-58520184-G-A p.Arg76Cys missense ACOX2 1 81094 1.23314E-5 40547 0 6.37064E-5
3-58520186-T-C p.Glu75Gly missense ACOX2 2 81088 2.46646E-5 40544 0 NA
3-58520187-C-G p.Glu75Gln missense ACOX2 1 81084 1.23329E-5 40542 0 4.11841E-5
3-58520207-T-C p.Asn68Ser missense ACOX2 1 81048 1.23384E-5 40524 0 NA
3-58520207-T-A p.Asn68Ile missense ACOX2 1 81048 1.23384E-5 40524 0 NA
3-58520226-C-T p.Glu62Lys missense ACOX2 2 80990 2.46944E-5 40495 0 3.29707E-5
3-58520227-C-T p.Pro61Pro synonymous ACOX2 2 80994 2.46932E-5 40497 0 0.00125
3-58520228-G-A p.Pro61Leu missense ACOX2 30 80976 3.7048E-4 40488 0 0.00151057
3-58520238-G-T p.His58Asn missense ACOX2 10 80916 1.23585E-4 40458 0 7.42599E-5
3-58520296-C-G n.338+7G>C splice_region ACOX2 209 78900 0.00264892 39450 0 0.00665605
3-58520306-G-C n.691C>G splice_region ACOX2 42864 51228 0.83673 25614 18050 0.924313
3-58520340-A-T n.309-5T>A splice_region ACOX2 1 73330 1.3637E-5 36665 0 NA
3-58520669-C-T c.160+5G>A splice_region ACOX2 20 80842 2.47396E-4 40421 0 4.61703E-4
3-58520674-C-A p.Glu54* stop_gained ACOX2 1 80872 1.23652E-5 40436 0 NA
3-58520684-G-A p.Arg50Arg synonymous ACOX2 2 80876 2.47292E-5 40438 0 NA
3-58520685-C-T p.Arg50His missense ACOX2 6 80872 7.41913E-5 40436 0 3.29663E-5
3-58520686-G-A p.Arg50Cys missense ACOX2 4 80886 4.94523E-5 40443 0 1.91156E-4
3-58520691-G-T p.Ala48Glu missense ACOX2 1 80896 1.23616E-5 40448 0 1.6714E-4
3-58520695-T-C p.Thr47Ala missense ACOX2 1 80914 1.23588E-5 40457 0 7.95735E-6
3-58520703-G-A p.Ala44Val missense ACOX2 1 80928 1.23567E-5 40464 0 3.97782E-6
3-58520725-T-C p.Thr37Ala missense ACOX2 1 81018 1.23429E-5 40509 0 1.19297E-5
3-58520730-C-T p.Arg35Gln missense ACOX2 14 81022 1.72793E-4 40511 0 4.78255E-4
3-58520731-G-A p.Arg35Trp missense ACOX2 55 81032 6.78744E-4 40516 0 6.91915E-4
3-58520736-A-G p.Val33Ala missense ACOX2 3 81046 3.7016E-5 40523 0 NA
3-58520737-C-T p.Val33Met missense ACOX2 60 81046 7.4032E-4 40523 1 0.00152973
3-58520738-G-A p.Asp32Asp synonymous ACOX2 4 81050 4.93523E-5 40525 0 2.7835E-5
3-58520740-CA-C p.Phe31fs frameshift ACOX2 1 81060 1.23365E-5 40530 0 3.57881E-5
3-58520755-A-G p.Tyr27His missense ACOX2 1 81064 1.23359E-5 40532 0 NA
3-58520770-T-C p.Ile22Val missense ACOX2 3 81074 3.70032E-5 40537 0 4.11848E-5
3-58520774-G-A p.Pro20Pro synonymous ACOX2 3 81076 3.70023E-5 40538 0 6.37105E-5
3-58520775-G-C p.Pro20Arg missense ACOX2 2 81078 2.46676E-5 40539 0 NA
3-58520792-C-T p.Trp14* stop_gained ACOX2 1 81080 1.23335E-5 40540 0 1.64734E-5
3-58520797-T-G p.Thr13Pro missense ACOX2 1 81084 1.23329E-5 40542 0 NA
3-58520800-C-T p.Asp12Asn missense ACOX2 7 81084 8.63302E-5 40542 0 3.18715E-5
3-58520806-A-G p.Leu10Leu synonymous ACOX2 84 81078 0.00103604 40539 0 0.00155673
3-58520811-A-T p.Val8Glu missense ACOX2 1 81084 1.23329E-5 40542 0 NA
3-58520814-C-T p.Arg7Gln missense ACOX2 1 81074 1.23344E-5 40537 0 6.25E-4
3-58520828-G-T p.Gly2Gly synonymous ACOX2 1 81052 1.23378E-5 40526 0 1.59276E-4
3-58520876-A-T c.-43T>A 5_prime_UTR_premature_start_codon_gain ACOX2 1 80854 1.2368E-5 40427 0 NA
3-58520880-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain ACOX2 46 80796 5.69335E-4 40398 0 0.00250627
3-58520889-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain ACOX2 7 80618 8.68292E-5 40309 0 9.5584E-5
3-58520926-T-G c.-91-2A>C splice_acceptor ACOX2 1 79182 1.26291E-5 39591 0 3.18634E-5
3-58522898-G-A c.-144C>T 5_prime_UTR_premature_start_codon_gain ACOX2 2 2964 6.74764E-4 1482 0 1.27405E-4
3-58522954-T-G c.-200A>C 5_prime_UTR_premature_start_codon_gain ACOX2 2848 2854 0.997898 1427 1421 0.984867