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Gene: ACOX2

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-58490864-C-G c.*87G>C splice_region ACOX2 1 80522 1.2419E-5 40261 0 NA
3-58490953-A-G p.Ter682Argext*? stop_lost ACOX2 1 83114 1.20317E-5 41557 0 3.98924E-6
3-58490986-T-C p.Arg671Gly missense ACOX2 1 83100 1.20337E-5 41550 0 8.23954E-6
3-58490992-A-G p.Tyr669His missense ACOX2 1 83076 1.20372E-5 41538 0 NA
3-58490993-T-A p.Glu668Asp missense ACOX2 2 83068 2.40767E-5 41534 0 1.64788E-5
3-58491010-TCTC-T p.Glu662del conservative_inframe_deletion ACOX2 2 83012 2.40929E-5 41506 0 6.36821E-5
3-58491011-C-T p.Glu662Glu splice_region+synonymous ACOX2 1 83022 1.2045E-5 41511 0 NA
3-58491013-C-A p.Glu662* stop_gained ACOX2 1 83006 1.20473E-5 41503 0 NA
3-58491017-T-G c.1984-4A>C splice_region ACOX2 1 83026 1.20444E-5 41513 0 2.01275E-5
3-58494612-T-C c.1983+8A>G splice_region ACOX2 1 83264 1.201E-5 41632 0 3.1835E-5
3-58494613-C-T c.1983+7G>A splice_region ACOX2 6 83268 7.20565E-5 41634 1 1.51232E-4
3-58494613-C-G c.1983+7G>C splice_region ACOX2 1 83268 1.20094E-5 41634 0 7.16361E-5
3-58494620-C-G p.Gln661His missense+splice_region ACOX2 1 83288 1.20065E-5 41644 0 NA
3-58494626-A-G p.Asn659Asn synonymous ACOX2 1 83304 1.20042E-5 41652 0 NA
3-58494641-C-T p.Gln654Gln synonymous ACOX2 2 83322 2.40033E-5 41661 0 3.1839E-5
3-58494643-G-A p.Gln654* stop_gained ACOX2 1 83320 1.20019E-5 41660 0 1.59096E-5
3-58494660-C-T p.Arg648His missense ACOX2 2 83316 2.4005E-5 41658 0 1.98867E-5
3-58494664-C-T p.Glu647Lys missense ACOX2 6 83320 7.20115E-5 41660 0 6.76127E-5
3-58494665-G-A p.Tyr646Tyr synonymous ACOX2 8 83316 9.602E-5 41658 0 4.11875E-5
3-58494671-G-A p.Asn644Asn synonymous ACOX2 5 83312 6.00154E-5 41656 0 2.47121E-5
3-58494675-C-T p.Gly643Glu missense ACOX2 1 83322 1.20016E-5 41661 0 8.23737E-6
3-58494680-A-G p.Tyr641Tyr synonymous ACOX2 11 83320 1.32021E-4 41660 0 1.90891E-4
3-58494682-A-G p.Tyr641His missense ACOX2 3 83322 3.60049E-5 41661 0 6.3674E-5
3-58494690-A-C p.Leu638Arg missense ACOX2 3 83318 3.60066E-5 41659 0 1.5908E-5
3-58494712-C-G p.Asp631His missense ACOX2 1 83282 1.20074E-5 41641 0 7.95507E-6
3-58494713-G-A p.Thr630Thr synonymous ACOX2 1 83284 1.20071E-5 41642 0 2.47117E-5
3-58494738-AG-A p.Leu622fs frameshift ACOX2 1 83238 1.20137E-5 41619 0 NA
3-58494740-G-A p.Pro91Ser missense ACOX2 1 83244 1.20129E-5 41622 0 NA
3-58494742-T-C p.Ile621Val missense ACOX2 1 83240 1.20135E-5 41620 0 NA
3-58494748-C-A p.Asp619Tyr missense ACOX2 5 83228 6.00759E-5 41614 0 NA
3-58496709-C-A p.Glu85Asp missense ACOX2 1 51310 1.94894E-5 25655 0 NA
3-58496738-C-T p.Val76Met missense ACOX2 1 51334 1.94803E-5 25667 0 7.43196E-6
3-58496743-C-T p.Gly74Glu missense ACOX2 1 51332 1.9481E-5 25666 0 NA
3-58496750-C-T p.Glu72Lys missense ACOX2 6 51332 1.16886E-4 25666 0 1.2747E-4
3-58496756-C-T p.Ala70Thr missense ACOX2 1 51340 1.9478E-5 25670 0 6.3743E-5
3-58496771-A-G p.Cys65Arg missense ACOX2 1 51490 1.94212E-5 25745 0 8.10898E-5
3-58502933-C-T p.Arg617Gln missense+splice_region ACOX2 4 83086 4.81429E-5 41543 0 5.04032E-4
3-58502934-G-A p.Arg617Trp missense+splice_region ACOX2 4 83116 4.81255E-5 41558 0 9.55597E-5
3-58502943-G-A p.Arg614Cys missense ACOX2 6 83192 7.21223E-5 41596 0 5.88741E-4
3-58502962-T-C p.Thr607Thr synonymous ACOX2 1 83276 1.20083E-5 41638 0 3.18152E-5
3-58502963-G-C p.Thr607Arg missense ACOX2 3 83278 3.60239E-5 41639 0 6.37227E-5
3-58502976-C-T p.Asp603Asn missense ACOX2 1 83300 1.20048E-5 41650 0 NA
3-58502999-G-C p.Ala595Gly missense ACOX2 3 83344 3.59954E-5 41672 0 3.18532E-5
3-58503000-C-A p.Ala595Ser missense ACOX2 1 83344 1.19985E-5 41672 0 NA
3-58503001-G-A p.Asp594Asp synonymous ACOX2 7 83342 8.39913E-5 41671 0 1.59317E-4
3-58503004-A-T p.His593Gln missense ACOX2 2 83346 2.39964E-5 41673 0 NA
3-58503005-T-C p.His593Arg missense ACOX2 3 83348 3.59937E-5 41674 0 3.18654E-5
3-58503006-GGA-G p.Leu592fs frameshift ACOX2 1 83352 1.19973E-5 41676 0 8.23683E-6
3-58503019-C-T p.Ser588Ser synonymous ACOX2 28 83344 3.35957E-4 41672 0 3.18613E-4
3-58503022-G-C p.Asn587Lys missense ACOX2 1 83350 1.19976E-5 41675 0 1.98826E-5
3-58503039-G-A p.His582Tyr missense ACOX2 2 83356 2.39935E-5 41678 0 NA
3-58503050-A-G p.Leu578Pro missense ACOX2 1 83342 1.19988E-5 41671 0 NA
3-58503062-C-T p.Arg574His missense ACOX2 2 83338 2.39987E-5 41669 0 3.18492E-5
3-58503063-G-A p.Arg574Cys missense ACOX2 44 83336 5.27983E-4 41668 0 7.0086E-4
3-58503075-G-A p.Gln570* stop_gained ACOX2 2 83352 2.39946E-5 41676 0 NA
3-58503081-TC-T p.Ile568fs frameshift ACOX2 1 83346 1.19982E-5 41673 0 NA
3-58503082-C-T p.Ala567Ala synonymous ACOX2 1 83346 1.19982E-5 41673 0 3.18532E-5
3-58503083-G-A p.Ala567Val missense ACOX2 3 83340 3.59971E-5 41670 0 1.19302E-5
3-58503083-G-GAAC p.Ala567delinsGlySer conservative_inframe_insertion ACOX2 1 83340 1.1999E-5 41670 0 NA
3-58503090-C-G p.Glu565Gln missense ACOX2 12 83346 1.43978E-4 41673 0 3.62414E-4
3-58503105-C-G p.Glu560Gln missense ACOX2 1 83334 1.19999E-5 41667 0 NA
3-58503123-C-T p.Gly554Ser missense ACOX2 1 83316 1.20025E-5 41658 0 NA
3-58503131-G-A p.Thr551Ile missense ACOX2 5 83312 6.00154E-5 41656 0 2.22958E-4
3-58503136-A-G p.Tyr549Tyr synonymous ACOX2 1 83300 1.20048E-5 41650 0 8.23873E-6
3-58503149-A-G p.Val545Ala missense+splice_region ACOX2 1 83236 1.2014E-5 41618 0 3.97836E-6
3-58508216-C-T c.1632+7G>A splice_region ACOX2 2 82892 2.41278E-5 41446 0 3.18674E-5
3-58508217-G-A c.1632+6C>T splice_region ACOX2 73 82922 8.80345E-4 41461 0 8.84328E-4
3-58508220-C-T c.1632+3G>A splice_region ACOX2 1 82968 1.20528E-5 41484 0 3.18654E-5
3-58508240-G-A p.His539Tyr missense ACOX2 1 83176 1.20227E-5 41588 0 NA
3-58508242-A-G p.Ile538Thr missense ACOX2 1 83216 1.20169E-5 41608 0 3.97671E-6
3-58508244-G-A p.Val537Val synonymous ACOX2 2 83220 2.40327E-5 41610 0 7.95336E-6
3-58508246-C-A p.Val537Phe missense ACOX2 1 83234 1.20143E-5 41617 0 3.97665E-6
3-58508262-A-C p.Ala531Ala synonymous ACOX2 1 83324 1.20013E-5 41662 0 8.23696E-6
3-58508267-C-T p.Glu530Lys missense ACOX2 3 83340 3.59971E-5 41670 0 3.18674E-5
3-58508267-C-G p.Glu530Gln missense ACOX2 4 83340 4.79962E-5 41670 0 3.18674E-5
3-58508268-G-A p.His529His synonymous ACOX2 1 83338 1.19993E-5 41669 0 5.76578E-5
3-58508273-G-C p.Gln528Glu missense ACOX2 79 83348 9.47833E-4 41674 1 6.08398E-4
3-58508283-G-A p.Ser524Ser synonymous ACOX2 2 83356 2.39935E-5 41678 0 1.27486E-4
3-58508289-C-T p.Thr522Thr synonymous ACOX2 2 83354 2.3994E-5 41677 0 1.98826E-5
3-58508304-A-G p.His517His synonymous ACOX2 1 83332 1.20002E-5 41666 0 NA
3-58508311-A-G p.Val515Ala missense ACOX2 1 83342 1.19988E-5 41671 0 8.23737E-6
3-58508316-G-A p.Asp513Asp synonymous ACOX2 1 83346 1.19982E-5 41673 0 8.2375E-6
3-58508318-C-T p.Asp513Asn missense ACOX2 3 83326 3.60032E-5 41663 0 8.23873E-6
3-58508322-T-C p.Ile511Met missense ACOX2 1 83322 1.20016E-5 41661 0 4.1195E-5
3-58508324-T-A p.Ile511Leu missense ACOX2 1 83322 1.20016E-5 41661 0 3.9769E-6
3-58510153-C-A p.Arg509Met missense+splice_region ACOX2 1 82958 1.20543E-5 41479 0 6.36902E-5
3-58510182-G-A p.Tyr499Tyr synonymous ACOX2 2 83132 2.40581E-5 41566 0 NA
3-58510187-G-A p.Leu498Phe missense ACOX2 2 83142 2.40552E-5 41571 0 8.29917E-6
3-58510189-T-C p.Glu497Gly missense ACOX2 1 83140 1.20279E-5 41570 0 NA
3-58510191-C-T c.*543G>A splice_region ACOX2 2 83138 2.40564E-5 41569 0 1.35217E-4
3-58510192-G-A p.Pro496Leu missense ACOX2 1 83142 1.20276E-5 41571 0 1.64894E-5
3-58510194-G-A p.Cys495Cys synonymous ACOX2 11 83136 1.32313E-4 41568 0 7.63875E-4
3-58510205-C-T p.Asp492Asn missense ACOX2 3 83146 3.60811E-5 41573 0 3.29641E-5
3-58510212-C-T p.Arg489Arg synonymous ACOX2 1 83146 1.2027E-5 41573 0 8.24008E-6
3-58510241-G-A p.Pro480Ser missense ACOX2 2 83146 2.40541E-5 41573 0 3.97769E-6
3-58510244-C-T p.Ala479Thr missense ACOX2 4 83154 4.81035E-5 41577 0 2.47194E-5
3-58510245-G-A p.Thr478Thr synonymous ACOX2 3 83148 3.60802E-5 41574 0 3.29592E-5
3-58510256-C-T p.Ala475Thr missense ACOX2 1 83126 1.20299E-5 41563 0 1.19336E-5
3-58510257-G-A p.Val474Val synonymous ACOX2 1 83126 1.20299E-5 41563 0 4.11991E-5
3-58510261-G-C p.Ser473Cys missense ACOX2 2 83132 2.40581E-5 41566 0 NA
3-58510269-G-A p.Leu470Leu synonymous ACOX2 1 83128 1.20296E-5 41564 0 3.97766E-6
3-58510284-C-T p.Thr465Thr synonymous ACOX2 1 83050 1.20409E-5 41525 0 6.37227E-5
3-58510319-T-C p.Ser454Gly missense ACOX2 1 82770 1.20817E-5 41385 0 6.37267E-5
3-58510320-C-T p.Lys453Lys synonymous ACOX2 1 82754 1.2084E-5 41377 0 NA
3-58510322-T-C p.Lys453Glu missense ACOX2 1 82686 1.20939E-5 41343 0 NA
3-58510326-C-T p.Leu451Leu synonymous ACOX2 1 82614 1.21045E-5 41307 0 6.36862E-5
3-58512185-G-C c.1346+8C>G splice_region ACOX2 1 81602 1.22546E-5 40801 0 NA
3-58512198-C-T p.Val447Val synonymous ACOX2 5 81910 6.10426E-5 40955 0 9.55657E-5
3-58512209-A-G p.Tyr444His missense ACOX2 1 82192 1.21666E-5 41096 0 4.00856E-6
3-58512210-G-A p.Leu443Leu synonymous ACOX2 2 82194 2.43327E-5 41097 1 5.04032E-4
3-58512219-GT-G p.Asn440fs frameshift ACOX2 1 82334 1.21457E-5 41167 0 NA
3-58512227-C-T p.Gly438Ser missense ACOX2 1 82410 1.21345E-5 41205 0 NA
3-58512230-C-T p.Glu437Lys missense ACOX2 2 82432 2.42624E-5 41216 0 1.99413E-5
3-58512233-AG-A p.Tyr436fs frameshift ACOX2 1 82498 1.21215E-5 41249 0 NA
3-58512234-G-A n.563C>T splice_region ACOX2 1 82532 1.21165E-5 41266 0 NA
3-58512237-A-G p.Cys434Cys synonymous ACOX2 14638 82024 0.17846 41012 2322 0.243907
3-58512240-G-A p.Ser433Ser synonymous ACOX2 1 82526 1.21174E-5 41263 0 8.29683E-6
3-58512243-G-C p.Ala432Ala synonymous ACOX2 2 82542 2.42301E-5 41271 0 NA
3-58512246-C-T p.Ser431Ser synonymous ACOX2 2 82510 2.42395E-5 41255 0 1.27494E-4
3-58512247-G-A p.Ser431Leu missense ACOX2 1 82514 1.21192E-5 41257 0 3.31126E-5
3-58512251-A-G p.Leu430Leu synonymous ACOX2 1 82570 1.21109E-5 41285 0 7.96318E-6
3-58512260-C-T p.Val427Ile missense ACOX2 3 82642 3.63012E-5 41321 0 1.65256E-5
3-58512267-T-C p.Pro424Pro synonymous ACOX2 1 82674 1.20957E-5 41337 0 3.98023E-6
3-58512285-T-C p.Ser418Ser synonymous ACOX2 4658 82500 0.0564606 41250 171 0.0650108
3-58512295-T-C p.His415Arg missense ACOX2 1 82792 1.20785E-5 41396 0 8.24457E-6
3-58512296-G-T p.His415Asn missense ACOX2 2 82800 2.41546E-5 41400 1 NA
3-58512302-C-T p.Gly413Ser missense ACOX2 3 82796 3.62336E-5 41398 0 3.97836E-6
3-58512313-C-T p.Arg409His missense ACOX2 7 82726 8.46167E-5 41363 0 1.91095E-4
3-58512314-G-A p.Arg409Cys missense ACOX2 3 82732 3.62617E-5 41366 0 5.76996E-5
3-58512323-C-G p.Glu406Gln missense ACOX2 11 82712 1.32992E-4 41356 0 2.86661E-4
3-58512353-T-C p.Met396Val missense ACOX2 9 82258 1.09412E-4 41129 0 6.16753E-4
3-58512363-G-A p.Gly392Gly synonymous ACOX2 1 81814 1.22228E-5 40907 0 NA
3-58512366-C-T p.Thr391Thr synonymous ACOX2 1 81696 1.22405E-5 40848 0 3.98311E-6
3-58512368-T-A p.Thr391Ser missense ACOX2 1 81618 1.22522E-5 40809 0 3.98238E-6
3-58512372-C-G p.Leu389Leu synonymous ACOX2 1 81488 1.22717E-5 40744 0 8.30786E-6
3-58512375-T-C p.Ala388Ala synonymous ACOX2 6923 80472 0.0860299 40236 491 0.14375
3-58512381-G-C p.Leu386Leu splice_region+synonymous ACOX2 1 80802 1.23759E-5 40401 0 1.19845E-5
3-58512384-C-A c.1156-1G>T splice_acceptor ACOX2 1 80554 1.2414E-5 40277 0 6.37105E-5
3-58512386-G-C c.1156-3C>G splice_region ACOX2 2 80424 2.48682E-5 40212 0 1.60056E-5
3-58512386-G-A c.1156-3C>T splice_region ACOX2 1 80424 1.24341E-5 40212 0 8.39123E-6
3-58512388-G-A c.1156-5C>T splice_region ACOX2 3 80260 3.73785E-5 40130 0 8.40477E-6
3-58512391-A-T c.1156-8T>A splice_region ACOX2 1 79986 1.25022E-5 39993 0 2.00293E-5
3-58514532-A-G p.Phe382Leu missense ACOX2 1 83340 1.1999E-5 41670 0 NA
3-58514542-T-G p.Gln378His missense ACOX2 1 83366 1.19953E-5 41683 0 4.02359E-6
3-58514553-T-C p.Ile375Val missense ACOX2 1 83370 1.19947E-5 41685 0 NA
3-58514557-A-G p.Thr373Thr synonymous ACOX2 2 83368 2.399E-5 41684 0 NA
3-58514571-G-A p.Gln369* stop_gained ACOX2 1 83378 1.19936E-5 41689 0 NA
3-58514581-C-T p.Leu365Leu synonymous ACOX2 2 83382 2.3986E-5 41691 0 NA
3-58514583-A-G p.Leu365Leu synonymous ACOX2 1 83380 1.19933E-5 41690 0 1.59307E-5
3-58514586-G-C p.Leu364Val missense ACOX2 8 83380 9.59463E-5 41690 0 9.5511E-5
3-58514589-T-A p.Ser363Cys missense ACOX2 1 83390 1.19918E-5 41695 0 6.25E-4
3-58514611-A-G p.Tyr355Tyr synonymous ACOX2 2 83392 2.39831E-5 41696 0 3.984E-6
3-58514614-A-T p.Ser354Arg missense ACOX2 1 83400 1.19904E-5 41700 0 3.18451E-5
3-58514619-T-C p.Ile353Val missense ACOX2 1 83400 1.19904E-5 41700 0 NA
3-58514623-C-T p.Leu351Leu synonymous ACOX2 9 83400 1.07914E-4 41700 0 0.00125
3-58514632-A-G p.Phe348Phe synonymous ACOX2 1 83406 1.19895E-5 41703 0 NA
3-58514646-G-A p.Gln344* stop_gained ACOX2 1 83400 1.19904E-5 41700 0 3.18532E-5
3-58514668-C-T p.Lys336Lys synonymous ACOX2 1 83382 1.1993E-5 41691 0 3.18512E-5
3-58516199-C-T p.Arg329Gln missense ACOX2 9 81614 1.10275E-4 40807 0 3.18532E-5
3-58516200-G-A p.Arg329Trp missense ACOX2 2 81740 2.44678E-5 40870 0 3.19977E-5
3-58516203-GC-G p.Leu328fs frameshift ACOX2 1 81864 1.22154E-5 40932 0 NA
3-58516205-C-G p.Arg327Pro missense ACOX2 1 81938 1.22043E-5 40969 0 NA
3-58516205-C-T p.Arg327Gln missense ACOX2 1 81938 1.22043E-5 40969 0 5.80922E-5
3-58516210-T-C p.Gln325Gln synonymous ACOX2 1 82226 1.21616E-5 41113 0 3.99227E-6
3-58516214-C-T p.Arg324His missense ACOX2 1 82266 1.21557E-5 41133 0 5.03525E-4
3-58516217-C-T p.Arg323His missense ACOX2 9 82292 1.09367E-4 41146 0 5.03525E-4
3-58516221-T-C p.Ile322Val missense ACOX2 2 82448 2.42577E-5 41224 0 3.30278E-5
3-58516223-A-T p.Val321Asp missense ACOX2 1 82510 1.21197E-5 41255 0 NA
3-58516225-C-T p.Ser320Ser synonymous ACOX2 1 82578 1.21098E-5 41289 0 1.19598E-5
3-58516227-A-G p.Ser320Pro missense ACOX2 1 82602 1.21062E-5 41301 0 NA
3-58516232-C-T p.Arg318His missense ACOX2 5 82688 6.04683E-5 41344 0 4.38244E-5
3-58516233-G-T p.Arg318Ser missense ACOX2 1 82736 1.20866E-5 41368 0 NA
3-58516235-A-G p.Met317Thr missense ACOX2 7 82806 8.45349E-5 41403 0 5.17747E-5
3-58516239-C-T p.Ala316Thr missense ACOX2 28 82836 3.38017E-4 41418 0 7.64867E-4
3-58516248-A-G p.Cys313Arg missense ACOX2 1 83010 1.20467E-5 41505 0 NA
3-58516250-G-T p.Ala312Asp missense ACOX2 2 83000 2.40964E-5 41500 0 8.24674E-6
3-58516258-C-T p.Leu309Leu synonymous ACOX2 1 83056 1.20401E-5 41528 0 NA
3-58516264-A-G p.Pro307Pro synonymous ACOX2 1 83092 1.20349E-5 41546 0 NA
3-58516267-G-A p.Leu306Leu synonymous ACOX2 1 83090 1.20351E-5 41545 0 6.37064E-5
3-58516288-CT-C p.Glu299fs frameshift ACOX2 1 83150 1.20265E-5 41575 0 NA
3-58516295-C-T p.Arg297Gln missense ACOX2 2 83148 2.40535E-5 41574 0 3.30491E-5
3-58516296-G-A p.Arg297Trp missense ACOX2 1 83150 1.20265E-5 41575 0 8.26269E-6
3-58516299-C-T p.Val296Met missense ACOX2 9 83160 1.08225E-4 41580 0 1.91119E-4
3-58516301-A-G p.Val295Ala missense ACOX2 3 83166 3.60724E-5 41583 0 NA
3-58516301-A-T p.Val295Glu missense ACOX2 2 83166 2.40483E-5 41583 0 NA
3-58516307-A-G p.Met293Thr missense ACOX2 1 83166 1.20241E-5 41583 0 2.48073E-5
3-58516318-G-A p.Asn289Asn synonymous ACOX2 19 83178 2.28426E-4 41589 1 9.94898E-4
3-58516335-C-T p.Gly284Ser missense ACOX2 37 83128 4.45097E-4 41564 1 8.91549E-4
3-58516336-G-A p.Leu283Leu synonymous ACOX2 4 83126 4.81197E-5 41563 0 7.9694E-6
3-58516344-C-T p.Val281Ile missense ACOX2 24 83084 2.88864E-4 41542 0 0.00125
3-58516345-G-A p.Tyr280Tyr synonymous ACOX2 11 83076 1.32409E-4 41538 0 3.35858E-4
3-58516349-G-T p.Thr279Asn missense ACOX2 17 83060 2.04671E-4 41530 2 1.43361E-4
3-58516355-T-C p.Asp277Gly missense ACOX2 3 83034 3.61298E-5 41517 0 3.99218E-6
3-58516973-G-A c.819+5C>T splice_region ACOX2 1 83088 1.20354E-5 41544 0 8.31767E-6
3-58516975-A-G c.819+3T>C splice_region ACOX2 1 83110 1.20322E-5 41555 0 1.19456E-5
3-58516976-AC-A c.819+1delG splice_donor ACOX2 1 83136 1.20285E-5 41568 0 NA
3-58516983-C-A p.Ala272Ser missense ACOX2 1 83196 1.20198E-5 41598 0 NA
3-58516986-A-AGC p.Phe271fs frameshift ACOX2 2 83236 2.40281E-5 41618 0 3.97883E-6
3-58516988-C-T p.Arg270His missense ACOX2 2 83226 2.4031E-5 41613 0 3.18552E-5
3-58516999-G-T p.Asn266Lys missense ACOX2 2 83304 2.40085E-5 41652 0 1.6494E-5
3-58517010-G-T p.Pro263Thr missense ACOX2 1 83324 1.20013E-5 41662 0 NA
3-58517016-G-A p.Arg261Trp missense ACOX2 31 83332 3.72006E-4 41666 0 6.25E-4
3-58517020-A-G p.His259His splice_region+synonymous ACOX2 1 83326 1.20011E-5 41663 0 7.95336E-6
3-58517035-G-C p.Phe254Leu missense ACOX2 1 83340 1.1999E-5 41670 0 NA
3-58517042-T-C p.Asn252Ser missense ACOX2 2 83346 2.39964E-5 41673 0 NA
3-58517048-G-A p.Gln101* stop_gained ACOX2 2 83330 2.4001E-5 41665 0 3.97655E-6
3-58517053-A-C p.Asp248Glu missense ACOX2 1 83332 1.20002E-5 41666 0 NA
3-58517063-A-C p.Met245Arg missense ACOX2 1 83320 1.20019E-5 41660 0 NA
3-58517065-C-T p.Arg95Lys missense ACOX2 1 83318 1.20022E-5 41659 0 3.97684E-6
3-58517073-C-T p.Gly242Arg missense ACOX2 5 83308 6.00182E-5 41654 0 6.60327E-5
3-58517074-G-A p.Ser92Leu missense ACOX2 2 83310 2.40067E-5 41655 0 9.55536E-5
3-58517078-T-G p.Asp240Ala missense ACOX2 1 83298 1.20051E-5 41649 0 3.97795E-6
3-58517084-A-G p.Ile238Thr missense ACOX2 258 83282 0.00309791 41641 0 0.00678171
3-58517095-T-C c.704-2A>G splice_acceptor ACOX2 2 83260 2.40211E-5 41630 0 NA
3-58517096-T-G p.Lys85Gln missense ACOX2 1 83260 1.20106E-5 41630 0 1.6794E-5
3-58517101-G-C p.Ser83Cys missense ACOX2 1 83226 1.20155E-5 41613 0 7.56586E-5
3-58517105-T-C p.Ile82Val missense ACOX2 1 83216 1.20169E-5 41608 0 1.27429E-4
3-58517112-G-A p.Leu79Leu synonymous ACOX2 5 83168 6.01193E-5 41584 0 1.73928E-5
3-58517117-C-T p.Val78Ile missense+splice_region ACOX2 94 83118 0.00113092 41559 0 0.00153666
3-58517449-C-T p.Arg225Gln missense ACOX2 7 83020 8.4317E-5 41510 0 1.15678E-4
3-58517450-G-A p.Arg225Trp missense ACOX2 47 83016 5.66156E-4 41508 0 3.18271E-4
3-58517467-G-T p.Ala219Asp missense ACOX2 1 82972 1.20523E-5 41486 0 NA
3-58517468-C-T p.Ala219Thr missense ACOX2 1 82960 1.2054E-5 41480 0 1.98916E-5
3-58517469-G-A p.His218His synonymous ACOX2 10 82964 1.20534E-4 41482 0 1.59307E-4
3-58517479-C-T p.Arg215Gln missense ACOX2 1 82918 1.20601E-5 41459 0 1.19359E-5
3-58517480-G-A p.Arg215Trp missense ACOX2 26 82934 3.13502E-4 41467 0 2.23163E-4
3-58517484-G-A p.Ala213Ala synonymous ACOX2 1 82910 1.20613E-5 41455 0 3.18573E-5
3-58517491-G-A p.Ser211Leu missense ACOX2 38 82894 4.58417E-4 41447 0 2.42717E-4
3-58517503-T-C p.Gln207Arg missense ACOX2 1 82820 1.20744E-5 41410 0 NA
3-58517519-C-A p.Ala202Ser missense ACOX2 1 82718 1.20893E-5 41359 0 NA
3-58517519-C-T p.Ala202Thr missense ACOX2 1 82718 1.20893E-5 41359 0 NA
3-58517520-A-G p.His201His synonymous ACOX2 3792 82602 0.0459069 41301 179 0.0790534
3-58517529-T-C p.Ser198Ser synonymous ACOX2 2 82594 2.42148E-5 41297 0 2.50534E-5
3-58517532-C-A p.Arg197Arg synonymous ACOX2 1 82554 1.21133E-5 41277 0 NA
3-58517533-C-T p.Arg197Gln missense ACOX2 5 82524 6.05884E-5 41262 0 1.67423E-5
3-58517534-G-A p.Arg197Trp missense ACOX2 19 82494 2.3032E-4 41247 0 2.68101E-4
3-58517537-C-T p.Gly196Arg missense+splice_region ACOX2 1 82452 1.21283E-5 41226 0 8.39391E-6
3-58517547-C-T c.584-8G>A splice_region ACOX2 4 82252 4.8631E-5 41126 1 NA
3-58519186-C-T p.Trp190* stop_gained ACOX2 1 83088 1.20354E-5 41544 0 NA
3-58519197-A-G p.Thr186Thr synonymous ACOX2 1 83150 1.20265E-5 41575 0 NA
3-58519203-C-T p.Thr184Thr synonymous ACOX2 3 83206 3.60551E-5 41603 0 4.94283E-5
3-58519204-G-A p.Thr184Met missense ACOX2 8 83216 9.61354E-5 41608 0 6.59011E-5
3-58519204-G-C p.Thr184Arg missense ACOX2 6 83216 7.21015E-5 41608 0 6.25E-4
3-58519216-A-G p.Ile180Thr missense ACOX2 1 83278 1.2008E-5 41639 0 NA
3-58519224-C-T p.Glu177Glu synonymous ACOX2 1 83298 1.20051E-5 41649 0 NA
3-58519227-CT-C p.Gln176fs frameshift ACOX2 1 83298 1.20051E-5 41649 0 NA
3-58519233-G-A p.Ala174Ala synonymous ACOX2 1 83282 1.20074E-5 41641 0 NA
3-58519239-G-A p.Asp172Asp synonymous ACOX2 3 83276 3.60248E-5 41638 0 9.56084E-5
3-58519267-T-G p.Gln163Pro missense ACOX2 2 83168 2.40477E-5 41584 0 1.64878E-5
3-58519274-A-G p.Tyr161His missense ACOX2 1 83104 1.20331E-5 41552 0 1.64924E-5
3-58519275-T-C p.Thr160Thr synonymous ACOX2 1 83108 1.20325E-5 41554 0 NA
3-58519276-G-A p.Thr160Ile missense ACOX2 1 83098 1.2034E-5 41549 0 NA
3-58519278-C-G p.Gly159Gly splice_region+synonymous ACOX2 1 83082 1.20363E-5 41541 0 3.98203E-6
3-58519717-T-G c.475+4A>C splice_region ACOX2 11 83278 1.32088E-4 41639 0 6.37146E-5
3-58519728-C-T p.Leu156Leu synonymous ACOX2 8 83306 9.60315E-5 41653 0 8.2481E-6
3-58519730-A-G p.Leu156Leu synonymous ACOX2 1 83316 1.20025E-5 41658 0 3.19101E-5
3-58519731-CTCTG-C p.Thr154fs frameshift ACOX2 147 83316 0.00176437 41658 1 0.00321656
3-58519746-C-T p.Thr150Thr synonymous ACOX2 4 83350 4.79904E-5 41675 0 5.03525E-4
3-58519746-C-A p.Thr150Thr synonymous ACOX2 1 83350 1.19976E-5 41675 0 NA
3-58519747-G-A p.Thr150Met missense ACOX2 2 83360 2.39923E-5 41680 0 4.9434E-5
3-58519751-C-T p.Ala149Thr missense ACOX2 3 83354 3.59911E-5 41677 0 2.54972E-4
3-58519752-G-A p.Ile148Ile synonymous ACOX2 2 83354 2.3994E-5 41677 0 3.57898E-5
3-58519764-G-A p.Asn144Asn synonymous ACOX2 3 83372 3.59833E-5 41686 0 6.58968E-5
3-58519766-T-C p.Asn144Asp missense ACOX2 1 83374 1.19941E-5 41687 0 8.23696E-6
3-58519773-G-A p.Leu141Leu synonymous ACOX2 2 83376 2.39877E-5 41688 0 1.35201E-4
3-58519776-T-G p.Pro140Pro synonymous ACOX2 1 83370 1.19947E-5 41685 0 6.3743E-5
3-58519777-G-A p.Pro140Leu missense ACOX2 1 83374 1.19941E-5 41687 0 3.9764E-6
3-58519778-G-A p.Pro140Ser missense ACOX2 1 83376 1.19939E-5 41688 0 NA
3-58519786-T-C p.Lys137Arg missense ACOX2 1 83388 1.19921E-5 41694 0 3.18613E-5
3-58519790-C-T p.Ala136Thr missense ACOX2 1 83390 1.19918E-5 41695 0 NA
3-58519796-G-T p.Gln134Lys missense ACOX2 3 83390 3.59755E-5 41695 0 8.23655E-6
3-58519799-C-A p.Glu133* stop_gained ACOX2 1 83388 1.19921E-5 41694 0 NA
3-58519807-C-T p.Gly130Asp missense ACOX2 10 83384 1.19927E-4 41692 0 8.23655E-6
3-58519809-C-A p.Leu129Leu synonymous ACOX2 1 83388 1.19921E-5 41694 0 NA
3-58519810-A-C p.Leu129Arg missense ACOX2 2 83386 2.39848E-5 41693 0 1.19292E-5
3-58519824-TCTCA-T p.Val123fs frameshift ACOX2 1 83376 1.19939E-5 41688 0 6.37389E-5
3-58519825-C-T p.Arg124Lys missense ACOX2 9 83380 1.0794E-4 41690 0 1.27437E-4
3-58519829-C-T p.Val123Met missense ACOX2 7 83376 8.3957E-5 41688 0 0.00125
3-58519829-C-G p.Val123Leu missense ACOX2 1 83376 1.19939E-5 41688 0 NA
3-58519830-G-A p.Phe122Phe synonymous ACOX2 1 83378 1.19936E-5 41689 0 NA
3-58519834-ACT-A p.Arg120fs frameshift ACOX2 1 83378 1.19936E-5 41689 0 5.03525E-4
3-58519834-A-G p.Val121Ala missense ACOX2 1 83378 1.19936E-5 41689 0 NA
3-58519854-C-T p.Val114Val synonymous ACOX2 1 83374 1.19941E-5 41687 0 NA
3-58519856-C-T p.Val114Met missense ACOX2 9 83356 1.07971E-4 41678 0 7.95678E-5
3-58519857-G-A p.Asp113Asp synonymous ACOX2 47 83352 5.63874E-4 41676 0 2.54891E-4
3-58519867-AG-A p.Leu110fs frameshift ACOX2 1 83332 1.20002E-5 41666 0 3.18593E-5
3-58519876-T-C c.324-4A>G splice_region ACOX2 10 83308 1.20036E-4 41654 0 8.25777E-5
3-58520084-C-CACCT c.322_323+2dupAGGT splice_donor ACOX2 2 83384 2.39854E-5 41692 0 1.65235E-5
3-58520085-A-G c.323+2T>C splice_donor ACOX2 4 83382 4.7972E-5 41691 1 2.47754E-5
3-58520091-A-G p.Tyr107His missense ACOX2 3 83388 3.59764E-5 41694 0 3.97801E-6
3-58520092-A-G p.Ala106Ala synonymous ACOX2 1 83392 1.19916E-5 41696 0 NA
3-58520093-G-A p.Ala106Val missense ACOX2 1 83390 1.19918E-5 41695 0 2.78441E-5
3-58520094-C-T p.Ala106Thr missense ACOX2 2 83392 2.39831E-5 41696 0 7.55894E-5
3-58520095-G-A p.Tyr105Tyr synonymous ACOX2 9 83392 1.07924E-4 41696 0 1.59378E-4
3-58520108-C-T p.Arg101His missense ACOX2 2 83406 2.39791E-5 41703 0 2.47202E-5
3-58520109-G-A p.Arg101Cys missense ACOX2 1 83402 1.19901E-5 41701 0 3.97697E-6
3-58520118-C-T p.Glu98Lys missense ACOX2 1 83406 1.19895E-5 41703 0 NA
3-58520119-T-C p.Leu97Leu synonymous ACOX2 4 83410 4.79559E-5 41705 0 8.23764E-6
3-58520120-A-C p.Leu97* stop_gained ACOX2 1 83408 1.19893E-5 41704 0 NA
3-58520125-A-G p.Gly95Gly synonymous ACOX2 1 83414 1.19884E-5 41707 0 NA
3-58520131-G-A p.Arg93Arg synonymous ACOX2 3 83408 3.59678E-5 41704 0 8.23723E-6
3-58520132-C-T p.Arg93His missense ACOX2 3 83408 3.59678E-5 41704 0 6.37267E-5
3-58520135-C-T p.Arg92Gln missense ACOX2 3 83408 3.59678E-5 41704 0 9.06066E-5
3-58520141-A-G p.Ile90Thr missense ACOX2 1 83408 1.19893E-5 41704 0 4.11841E-5
3-58520141-A-T p.Ile90Lys missense ACOX2 1 83408 1.19893E-5 41704 0 8.23683E-6
3-58520145-A-G p.Leu89Leu synonymous ACOX2 1 83412 1.19887E-5 41706 0 1.64737E-5
3-58520147-C-T p.Arg88Gln missense ACOX2 4 83412 4.79547E-5 41706 0 3.18119E-5
3-58520159-G-A p.Ala84Val missense ACOX2 1 83408 1.19893E-5 41704 0 3.18532E-5
3-58520162-C-T p.Arg83Lys missense ACOX2 1 83412 1.19887E-5 41706 0 8.23683E-6
3-58520165-C-T p.Arg82Gln missense ACOX2 7 83412 8.39208E-5 41706 0 5.03525E-4
3-58520166-G-A p.Arg82Trp missense ACOX2 3 83406 3.59686E-5 41703 0 3.29468E-5
3-58520166-G-C p.Arg82Gly missense ACOX2 2 83406 2.39791E-5 41703 1 NA
3-58520168-A-G p.Met81Thr missense ACOX2 1 83404 1.19898E-5 41702 0 3.97633E-6
3-58520180-T-C p.Tyr77Cys missense ACOX2 1 83410 1.1989E-5 41705 0 8.23655E-6
3-58520183-C-T p.Arg76His missense ACOX2 2 83406 2.39791E-5 41703 0 8.23655E-6
3-58520184-G-A p.Arg76Cys missense ACOX2 1 83408 1.19893E-5 41704 0 6.37064E-5
3-58520186-T-C p.Glu75Gly missense ACOX2 2 83402 2.39802E-5 41701 0 NA
3-58520187-C-G p.Glu75Gln missense ACOX2 1 83398 1.19907E-5 41699 0 4.11841E-5
3-58520207-T-C p.Asn68Ser missense ACOX2 1 83364 1.19956E-5 41682 0 NA
3-58520207-T-A p.Asn68Ile missense ACOX2 1 83364 1.19956E-5 41682 0 NA
3-58520226-C-T p.Glu62Lys missense ACOX2 2 83306 2.40079E-5 41653 0 3.29707E-5
3-58520227-C-T p.Pro61Pro synonymous ACOX2 3 83310 3.60101E-5 41655 0 0.00125
3-58520228-G-A p.Pro61Leu missense ACOX2 31 83292 3.72185E-4 41646 0 0.00151057
3-58520238-G-T p.His58Asn missense ACOX2 11 83232 1.32161E-4 41616 0 7.42599E-5
3-58520296-C-G n.338+7G>C splice_region ACOX2 210 81210 0.00258589 40605 0 0.00665605
3-58520306-G-C n.691C>G splice_region ACOX2 44389 53030 0.837054 26515 18710 0.924313
3-58520340-A-T n.309-5T>A splice_region ACOX2 1 75860 1.31822E-5 37930 0 NA
3-58520669-C-T c.160+5G>A splice_region ACOX2 20 83144 2.40547E-4 41572 0 4.61703E-4
3-58520674-C-A p.Glu54* stop_gained ACOX2 1 83174 1.2023E-5 41587 0 NA
3-58520684-G-A p.Arg50Arg synonymous ACOX2 2 83178 2.40448E-5 41589 0 NA
3-58520685-C-T p.Arg50His missense ACOX2 6 83174 7.21379E-5 41587 0 3.29663E-5
3-58520686-G-A p.Arg50Cys missense ACOX2 4 83188 4.80839E-5 41594 0 1.91156E-4
3-58520691-G-T p.Ala48Glu missense ACOX2 1 83198 1.20195E-5 41599 0 1.6714E-4
3-58520695-T-C p.Thr47Ala missense ACOX2 1 83212 1.20175E-5 41606 0 7.95735E-6
3-58520703-G-A p.Ala44Val missense ACOX2 1 83230 1.20149E-5 41615 0 3.97782E-6
3-58520725-T-C p.Thr37Ala missense ACOX2 1 83322 1.20016E-5 41661 0 1.19297E-5
3-58520730-C-T p.Arg35Gln missense ACOX2 15 83324 1.8002E-4 41662 0 4.78255E-4
3-58520731-G-A p.Arg35Trp missense ACOX2 56 83336 6.71979E-4 41668 0 6.91915E-4
3-58520736-A-G p.Val33Ala missense ACOX2 3 83348 3.59937E-5 41674 0 NA
3-58520737-C-T p.Val33Met missense ACOX2 61 83350 7.31854E-4 41675 1 0.00152973
3-58520738-G-A p.Asp32Asp synonymous ACOX2 4 83354 4.79881E-5 41677 0 2.7835E-5
3-58520739-T-A p.Asp32Val missense ACOX2 1 83356 1.19967E-5 41678 0 NA
3-58520740-CA-C p.Phe31fs frameshift ACOX2 1 83364 1.19956E-5 41682 0 3.57881E-5
3-58520755-A-G p.Tyr27His missense ACOX2 1 83372 1.19944E-5 41686 0 NA
3-58520770-T-C p.Ile22Val missense ACOX2 3 83382 3.5979E-5 41691 0 4.11848E-5
3-58520774-G-A p.Pro20Pro synonymous ACOX2 3 83384 3.59781E-5 41692 0 6.37105E-5
3-58520775-G-C p.Pro20Arg missense ACOX2 2 83384 2.39854E-5 41692 0 NA
3-58520792-C-T p.Trp14* stop_gained ACOX2 1 83388 1.19921E-5 41694 0 1.64734E-5
3-58520797-T-G p.Thr13Pro missense ACOX2 1 83388 1.19921E-5 41694 0 NA
3-58520800-C-T p.Asp12Asn missense ACOX2 7 83388 8.39449E-5 41694 0 3.18715E-5
3-58520806-A-G p.Leu10Leu synonymous ACOX2 87 83382 0.00104339 41691 0 0.00155673
3-58520811-A-T p.Val8Glu missense ACOX2 1 83384 1.19927E-5 41692 0 NA
3-58520814-C-T p.Arg7Gln missense ACOX2 1 83376 1.19939E-5 41688 0 6.25E-4
3-58520828-G-T p.Gly2Gly synonymous ACOX2 1 83348 1.19979E-5 41674 0 1.59276E-4
3-58520876-A-T c.-43T>A 5_prime_UTR_premature_start_codon_gain ACOX2 1 83124 1.20302E-5 41562 0 NA
3-58520880-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain ACOX2 69 83050 8.30825E-4 41525 0 0.00250627
3-58520889-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain ACOX2 7 82842 8.44982E-5 41421 0 9.5584E-5
3-58520926-T-G c.-91-2A>C splice_acceptor ACOX2 1 81182 1.2318E-5 40591 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



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