Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-18087564-G-T p.Ala3Ser missense ALKBH5 1 53868 1.85639E-5 26934 0 NA
17-18087578-C-T p.Tyr7Tyr synonymous ALKBH5 1 56652 1.76516E-5 28326 0 6.39141E-5
17-18087611-G-A p.Thr18Thr synonymous ALKBH5 4 60624 6.59805E-5 30312 0 9.5584E-5
17-18087620-C-T p.Asp21Asp synonymous ALKBH5 1 61744 1.61959E-5 30872 0 3.19857E-5
17-18087628-A-G p.Lys24Arg missense ALKBH5 2 62948 3.17723E-5 31474 0 NA
17-18087640-G-A p.Arg28Gln missense ALKBH5 2 64164 3.11701E-5 32082 0 NA
17-18087644-G-GGCCGCC p.Ala32_Ala33dup disruptive_inframe_insertion ALKBH5 2 64650 3.09358E-5 32325 0 NA
17-18087644-GGCCGCC-G p.Ala32_Ala33del disruptive_inframe_deletion ALKBH5 1 64650 1.54679E-5 32325 0 1.87878E-5
17-18087647-CGCCGCCGCT-C p.Ala33_Ala35del disruptive_inframe_deletion ALKBH5 10 64696 1.54569E-4 32348 0 4.04447E-4
17-18087647-CGCCGCCGCTGCCGCAGCCGCCGTA-C p.Ala34_Ala41del disruptive_inframe_deletion ALKBH5 3 64696 4.63707E-5 32348 0 3.2002E-5
17-18087650-C-T p.Ala31Ala synonymous ALKBH5 1 65100 1.5361E-5 32550 0 6.39959E-5
17-18087651-G-T p.Ala32Ser missense ALKBH5 1 65116 1.53572E-5 32558 0 9.49199E-6
17-18087656-TGCCGCAGCCGCCGTAGCCGCCGCA-T p.Val38_Ala45del disruptive_inframe_deletion ALKBH5 2 66284 3.01732E-5 33142 0 6.47333E-5
17-18087656-T-A p.Ala33Ala synonymous ALKBH5 1 66284 1.50866E-5 33142 0 9.80969E-5
17-18087656-TGCCGCAGCC-T p.Ala35_Ala37del disruptive_inframe_deletion ALKBH5 1 66284 1.50866E-5 33142 0 9.24761E-6
17-18087659-C-T p.Ala34Ala synonymous ALKBH5 2 66524 3.00643E-5 33262 0 9.78857E-5
17-18087670-TAGCCGCCGC-T p.Ala41_Ala43del disruptive_inframe_deletion ALKBH5 1 68582 1.45811E-5 34291 0 2.60186E-5
17-18087670-T-TAGCCGCCGCAGCCGC p.Ala42_Ala46dup disruptive_inframe_insertion ALKBH5 1 68584 1.45807E-5 34292 0 1.73458E-5
17-18087670-T-TAGCCGCCGC p.Ala41_Ala43dup disruptive_inframe_insertion ALKBH5 7 68582 1.02068E-4 34291 0 9.5057E-5
17-18087670-TA-CT p.Val38Ala missense ALKBH5 2 68584 2.91613E-5 34292 0 NA
17-18087670-T-C p.Val38Ala missense ALKBH5 2 68584 2.91613E-5 34292 0 NA
17-18087671-AGCCGCC-A p.Ala40_Ala41del disruptive_inframe_deletion ALKBH5 6 68856 8.71384E-5 34428 0 NA
17-18087672-G-A p.Ala39Thr missense ALKBH5 1 68944 1.45045E-5 34472 0 NA
17-18087673-C-T p.Ala39Val missense ALKBH5 1 69098 1.44722E-5 34549 0 NA
17-18087674-CGCCGCA-C p.Ala44_Ala45del disruptive_inframe_deletion ALKBH5 3 69348 4.32601E-5 34674 0 1.88324E-4
17-18087674-C-A p.Ala39Ala synonymous ALKBH5 8 69346 1.15364E-4 34673 0 9.4162E-5
17-18087674-C-T p.Ala39Ala synonymous ALKBH5 2 69348 2.88401E-5 34674 0 9.4162E-5
17-18087674-C-CGCCGCA p.Ala44_Ala45dup disruptive_inframe_insertion ALKBH5 1 69348 1.442E-5 34674 0 8.77655E-6
17-18087677-C-T p.Ala40Ala synonymous ALKBH5 4 69750 5.73477E-5 34875 0 3.20123E-5
17-18087680-A-T p.Ala41Ala synonymous ALKBH5 3 70526 4.25375E-5 35263 0 NA
17-18087680-AGCCGCAGCC-A p.Ala44_Ala46del disruptive_inframe_deletion ALKBH5 4 70526 5.67167E-5 35263 0 9.60492E-5
17-18087683-C-A p.Ala42Ala synonymous ALKBH5 1 70912 1.4102E-5 35456 0 NA
17-18087684-G-A p.Ala43Thr missense ALKBH5 1 71008 1.40829E-5 35504 0 8.86054E-6
17-18087686-AGCCGCCGCT-A p.Ala46_Ala48del disruptive_inframe_deletion ALKBH5 1 71630 1.39606E-5 35815 0 2.6344E-5
17-18087687-G-T p.Ala44Ser missense ALKBH5 1 71814 1.39249E-5 35907 0 NA
17-18087690-G-C p.Ala45Pro missense ALKBH5 1 72812 1.3734E-5 36406 0 NA
17-18087695-T-TGCCGCC p.Ala47_Ala48dup disruptive_inframe_insertion ALKBH5 1 73978 1.35175E-5 36989 0 NA
17-18087696-G-A p.Ala47Thr missense ALKBH5 2 74114 2.69855E-5 37057 0 8.39349E-5
17-18087698-C-T p.Ala47Ala synonymous ALKBH5 2 74562 2.68233E-5 37281 0 7.59694E-6
17-18087702-G-T p.Glu49* stop_gained ALKBH5 1 75396 1.32633E-5 37698 0 NA
17-18087710-C-T p.Tyr51Tyr synonymous ALKBH5 1 76936 1.29978E-5 38468 0 6.37836E-5
17-18087711-C-T p.Pro52Ser missense ALKBH5 4 77076 5.18968E-5 38538 0 3.18918E-5
17-18087714-G-A p.Val53Met missense ALKBH5 1 77398 1.29202E-5 38699 0 5.91926E-6
17-18087741-G-A p.Glu62Lys missense ALKBH5 2 79886 2.50357E-5 39943 0 NA
17-18087748-C-G p.Ser64Trp missense ALKBH5 1 80172 1.24732E-5 40086 0 NA
17-18087753-C-A p.Pro66Thr missense ALKBH5 10 80368 1.24428E-4 40184 0 1.91461E-4
17-18087755-C-T p.Pro66Pro synonymous ALKBH5 6 80426 7.46027E-5 40213 0 6.37796E-5
17-18087758-G-T p.Glu67Asp missense ALKBH5 1 80520 1.24193E-5 40260 0 NA
17-18087759-C-A p.Arg68Ser missense ALKBH5 1 80488 1.24242E-5 40244 0 NA
17-18087764-C-T p.Ser69Ser synonymous ALKBH5 2 80784 2.47574E-5 40392 0 8.42765E-6
17-18087769-A-G p.Tyr71Cys missense ALKBH5 1 81034 1.23405E-5 40517 0 6.38064E-5
17-18087773-G-A p.Glu72Glu synonymous ALKBH5 1 81098 1.23308E-5 40549 0 4.13729E-6
17-18087783-C-T p.Leu76Leu synonymous ALKBH5 7 81090 8.63238E-5 40545 0 0.00125
17-18087783-C-G p.Leu76Val missense ALKBH5 3 81090 3.69959E-5 40545 0 NA
17-18087789-AAGG-A p.Glu81del disruptive_inframe_deletion ALKBH5 4 81142 4.92963E-5 40571 0 0.00256674
17-18087799-A-C p.Glu81Ala missense ALKBH5 1 81094 1.23314E-5 40547 0 3.64817E-5
17-18087800-G-A p.Glu81Glu synonymous ALKBH5 1 81144 1.23238E-5 40572 0 NA
17-18087805-G-A p.Arg83His missense ALKBH5 1 80982 1.23484E-5 40491 0 NA
17-18087808-A-G p.Lys84Arg missense ALKBH5 2 81032 2.46816E-5 40516 0 6.37511E-5
17-18087809-G-A p.Lys84Lys synonymous ALKBH5 1 81032 1.23408E-5 40516 0 4.06369E-6
17-18087835-G-A p.Arg93His missense ALKBH5 10 80750 1.23839E-4 40375 0 1.27478E-4
17-18087839-C-T p.Leu94Leu synonymous ALKBH5 1 80736 1.2386E-5 40368 0 1.19931E-4
17-18087844-G-A p.Ser96Asn missense ALKBH5 2 80578 2.48207E-5 40289 0 1.71174E-5
17-18087860-C-G p.Ala101Ala synonymous ALKBH5 50 80438 6.21597E-4 40219 0 3.93563E-4
17-18087862-A-G p.Lys102Arg missense ALKBH5 2 80478 2.48515E-5 40239 0 NA
17-18087874-G-T p.Arg106Leu missense ALKBH5 2 80418 2.48701E-5 40209 0 8.52457E-6
17-18087875-C-T p.Arg106Arg synonymous ALKBH5 3 80442 3.7294E-5 40221 0 NA
17-18087882-G-A p.Glu109Lys missense ALKBH5 1 80640 1.24008E-5 40320 0 NA
17-18087892-C-G p.Ser112Cys missense ALKBH5 1 80834 1.2371E-5 40417 0 NA
17-18087896-C-T p.Arg113Arg synonymous ALKBH5 1 80910 1.23594E-5 40455 0 NA
17-18087908-C-T p.Gly117Gly synonymous ALKBH5 5 81356 6.14583E-5 40678 0 3.40263E-5
17-18087914-C-T p.Tyr119Tyr synonymous ALKBH5 1 81486 1.2272E-5 40743 0 3.40327E-5
17-18087918-G-C p.Glu121Gln missense ALKBH5 1 81558 1.22612E-5 40779 0 8.50991E-6
17-18087922-A-G p.His122Arg missense ALKBH5 16 81612 1.9605E-4 40806 0 0.00100705
17-18087941-A-G p.Pro128Pro synonymous ALKBH5 6 81796 7.33532E-5 40898 0 5.11902E-5
17-18087956-C-T p.Tyr133Tyr synonymous ALKBH5 1 81904 1.22094E-5 40952 0 6.36943E-5
17-18087959-C-T p.Phe134Phe synonymous ALKBH5 44 81878 5.37385E-4 40939 0 5.73285E-4
17-18087971-C-T p.Gly138Gly synonymous ALKBH5 1 81864 1.22154E-5 40932 0 NA
17-18088001-C-T p.Arg148Arg synonymous ALKBH5 1 81662 1.22456E-5 40831 0 NA
17-18088007-C-T p.Pro150Pro synonymous ALKBH5 2 81680 2.44858E-5 40840 0 3.18796E-5
17-18088028-G-A p.Pro157Pro synonymous ALKBH5 3 81728 3.67071E-5 40864 0 8.58207E-6
17-18088034-C-G p.Gly159Gly synonymous ALKBH5 2 81726 2.4472E-5 40863 0 4.05927E-6
17-18088094-C-T p.His179His synonymous ALKBH5 17979 82082 0.219037 41041 2039 0.299597
17-18088096-G-A p.Arg180His missense ALKBH5 4 82312 4.85956E-5 41156 0 6.25E-4
17-18088119-A-G p.Asn188Asp missense ALKBH5 1 82764 1.20825E-5 41382 0 NA
17-18088127-C-T p.Ala190Ala synonymous ALKBH5 42 82810 5.07185E-4 41405 0 2.84262E-4
17-18088130-C-A p.Val191Val synonymous ALKBH5 2 82862 2.41365E-5 41431 0 NA
17-18088169-C-T p.His204His synonymous ALKBH5 3 83028 3.61324E-5 41514 0 6.3674E-5
17-18088187-C-T p.Ile210Ile synonymous ALKBH5 5 83088 6.01772E-5 41544 0 1.91071E-4
17-18088202-C-T p.Ile215Ile synonymous ALKBH5 1 83120 1.20308E-5 41560 0 8.31587E-6
17-18088208-C-T p.Ser217Ser synonymous ALKBH5 1 83154 1.20259E-5 41577 0 NA
17-18088211-G-A p.Val218Val synonymous ALKBH5 1 83172 1.20233E-5 41586 0 NA
17-18088214-C-T p.Ser219Ser synonymous ALKBH5 1 83172 1.20233E-5 41586 0 4.00937E-6
17-18088217-C-T p.Phe220Phe synonymous ALKBH5 3 83190 3.6062E-5 41595 0 6.36943E-5
17-18088223-C-T p.Ser222Ser synonymous ALKBH5 5 83162 6.01236E-5 41581 0 8.30717E-5
17-18088229-T-C p.Ser224Ser synonymous ALKBH5 3 83170 3.60707E-5 41585 0 8.3062E-6
17-18088241-C-T p.Phe228Phe synonymous ALKBH5 2 83172 2.40466E-5 41586 0 NA
17-18088261-A-G p.Lys235Arg missense ALKBH5 1 83120 1.20308E-5 41560 0 1.6616E-5
17-18088304-C-A p.Arg249Arg synonymous ALKBH5 1 82594 1.21074E-5 41297 0 NA
17-18088316-G-T p.Val253Val synonymous ALKBH5 1 82200 1.21655E-5 41100 0 3.18573E-5
17-18098261-C-T c.771-8C>T splice_region ALKBH5 2 82014 2.43861E-5 41007 0 8.45995E-6
17-18098262-T-G c.771-7T>G splice_region ALKBH5 1 82042 1.21889E-5 41021 0 NA
17-18098272-A-G p.Gly258Gly synonymous ALKBH5 7 82366 8.49865E-5 41183 0 4.13907E-4
17-18098287-A-C p.Glu263Asp missense ALKBH5 1 82562 1.21121E-5 41281 0 1.66911E-5
17-18098296-C-T c.-226C>T 5_prime_UTR_premature_start_codon_gain ALKBH5 1 82644 1.21001E-5 41322 0 4.01171E-6
17-18098344-C-T p.Leu282Leu synonymous ALKBH5 2 82258 2.43137E-5 41129 0 6.36902E-5
17-18110121-C-T c.852-8C>T splice_region ALKBH5 3 83038 3.6128E-5 41519 0 1.59049E-4
17-18110133-A-G p.Arg286Gly missense ALKBH5 1 83214 1.20172E-5 41607 0 NA
17-18110166-C-A p.Leu297Met missense ALKBH5 1 83332 1.20002E-5 41666 0 4.00824E-6
17-18110171-C-T p.Ser298Ser synonymous ALKBH5 5 83326 6.00053E-5 41663 0 1.59205E-4
17-18110194-A-G p.Tyr306Cys missense ALKBH5 1 83296 1.20054E-5 41648 0 8.01417E-6
17-18110196-G-A p.Ala307Thr missense ALKBH5 1 83290 1.20062E-5 41645 0 NA
17-18110200-C-T p.Ser308Leu missense ALKBH5 2 83288 2.40131E-5 41644 0 NA
17-18110219-C-G p.Asn314Lys missense ALKBH5 2 83220 2.40327E-5 41610 0 3.60661E-5
17-18110231-T-G p.Pro318Pro synonymous ALKBH5 1 83150 1.20265E-5 41575 0 NA
17-18110243-C-T p.Pro322Pro synonymous ALKBH5 1 83064 1.20389E-5 41532 0 8.29201E-6
17-18110245-A-G p.Lys323Arg missense ALKBH5 1 83042 1.20421E-5 41521 0 NA
17-18110252-C-T p.Ser325Ser synonymous ALKBH5 1 82946 1.2056E-5 41473 0 NA
17-18110257-G-A p.Arg327His missense ALKBH5 3 82870 3.62013E-5 41435 0 NA
17-18110261-G-A p.Lys328Lys synonymous ALKBH5 2 82816 2.41499E-5 41408 0 8.3062E-6
17-18110264-A-T c.-37A>T 5_prime_UTR_premature_start_codon_gain ALKBH5 2 82744 2.41709E-5 41372 0 9.5511E-5
17-18110285-G-GCCACGGA c.1007+1_1007+2insCCACGGA splice_donor ALKBH5 1 82170 1.21699E-5 41085 0 NA
17-18110291-A-G c.1007+7A>G splice_region ALKBH5 1 81906 1.22091E-5 40953 0 1.42164E-4
17-18111528-T-C c.1008-5T>C splice_region ALKBH5 5 83216 6.00846E-5 41608 0 4.37928E-5
17-18111535-C-T p.Pro337Leu missense+splice_region ALKBH5 4 83244 4.80515E-5 41622 0 2.86695E-5
17-18111538-G-A p.Arg338Gln missense ALKBH5 1 83256 1.20111E-5 41628 0 4.09621E-6
17-18111557-G-A p.Lys344Lys synonymous ALKBH5 1 83316 1.20025E-5 41658 0 NA
17-18111566-C-T p.Asn347Asn synonymous ALKBH5 9 83304 1.08038E-4 41652 0 NA
17-18111573-T-C p.Ser350Pro missense ALKBH5 1 83304 1.20042E-5 41652 0 NA
17-18111574-C-T p.Ser350Leu missense ALKBH5 1 83300 1.20048E-5 41650 0 8.36764E-6
17-18111575-G-A p.Ser350Ser synonymous ALKBH5 7 83298 8.40356E-5 41649 0 1.00313E-4
17-18111587-C-T p.Pro354Pro synonymous ALKBH5 2 83300 2.40096E-5 41650 0 5.03525E-4
17-18111594-C-T p.Arg357Trp missense ALKBH5 1 83280 1.20077E-5 41640 0 1.20295E-5
17-18111597-C-T p.Arg358Trp missense ALKBH5 1 83264 1.201E-5 41632 0 6.25E-4
17-18111598-G-A p.Arg358Gln missense ALKBH5 4 83264 4.804E-5 41632 0 2.80667E-5
17-18111605-T-C p.Gly360Gly synonymous ALKBH5 1 83232 1.20146E-5 41616 0 4.01004E-6
17-18111620-G-C p.Glu365Asp missense ALKBH5 1 83254 1.20114E-5 41627 0 NA
17-18111630-C-T p.Arg369Cys missense ALKBH5 1 83222 1.20161E-5 41611 0 1.66667E-5
17-18111631-G-A p.Arg369His missense ALKBH5 1 83216 1.20169E-5 41608 0 4.01017E-6
17-18111642-G-A p.Glu373Lys missense ALKBH5 3 83198 3.60586E-5 41599 0 1.66925E-5
17-18111653-G-A p.Glu376Glu synonymous ALKBH5 2 83160 2.405E-5 41580 0 1.20381E-5
17-18111665-G-A p.Glu380Glu synonymous ALKBH5 1 83098 1.2034E-5 41549 0 4.0169E-6
17-18111667-C-T p.Ala381Val missense ALKBH5 1 83076 1.20372E-5 41538 0 NA
17-18111669-G-C p.Ala382Pro missense ALKBH5 1 83080 1.20366E-5 41540 0 NA
17-18111677-C-T p.Ser384Ser synonymous ALKBH5 1 83010 1.20467E-5 41505 0 8.39772E-6
17-18111685-G-A p.Arg387Gln missense ALKBH5 1 82936 1.20575E-5 41468 0 5.03525E-4
17-18111699-C-T p.Arg392Trp missense ALKBH5 5 82614 6.05224E-5 41307 0 1.27494E-4
17-18111700-G-A p.Arg392Gln missense ALKBH5 2 82604 2.42119E-5 41302 0 4.0423E-6
17-18111702-C-T p.Arg393Trp missense ALKBH5 2 82442 2.42595E-5 41221 0 NA
17-18112706-CCTT-C c.*999_*1001delTCT splice_region ALKBH5 6 42606 1.40825E-4 21303 0 3.18878E-5
17-18112711-T-C c.*1001T>C splice_region ALKBH5 304 42244 0.00719629 21122 0 0.00570536