Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-99993573-T-C p.Ile374Val missense ADH5 1 82166 1.21705E-5 41083 0 8.46754E-6
4-99993574-C-G p.Lys373Asn missense ADH5 1 82184 1.21678E-5 41092 0 2.01238E-5
4-99993577-T-C p.Val372Val synonymous ADH5 1 82204 1.21649E-5 41102 0 4.02389E-6
4-99993587-C-T p.Arg369Gln missense ADH5 1 82298 1.2151E-5 41149 0 1.69119E-5
4-99993588-G-A p.Arg369* stop_gained ADH5 2 82300 2.43013E-5 41150 0 1.20725E-5
4-99993594-T-TCTTTCCAGAATGCATCA c.1101-3_1101-2insTGATGCATTCTGGAAAG splice_region ADH5 1 82374 1.21398E-5 41187 0 NA
4-99993596-T-TTC c.1101-5_1101-4insGA splice_region ADH5 1 82394 1.21368E-5 41197 0 NA
4-99993599-A-G c.1101-7T>C splice_region ADH5 1 82416 1.21336E-5 41208 0 NA
4-99993730-CC-TT p.Gly365Lys missense ADH5 1 82224 1.21619E-5 41112 0 NA
4-99993738-C-G p.Met362Ile missense ADH5 1 82170 1.21699E-5 41085 0 4.05383E-6
4-99993748-A-G p.Phe359Ser missense ADH5 1 82106 1.21794E-5 41053 0 4.02875E-6
4-99993759-G-T p.Ile355Ile synonymous ADH5 1 82008 1.21939E-5 41004 0 NA
4-99993786-C-A p.Val346Val synonymous ADH5 1 81882 1.22127E-5 40941 0 0.00101112
4-99993787-A-T p.Val346Glu missense ADH5 59 81878 7.20584E-4 40939 0 0.00125156
4-99993797-C-T p.Asp343Asn missense ADH5 2 81856 2.44332E-5 40928 0 NA
4-99993800-C-CAAAA p.Val342fs frameshift ADH5 1 81824 1.22214E-5 40912 0 1.66174E-5
4-99993808-T-G p.Lys339Thr missense ADH5 1 81758 1.22312E-5 40879 0 4.0211E-6
4-99993808-T-C p.Lys339Arg missense ADH5 1 81758 1.22312E-5 40879 0 3.18451E-5
4-99993811-T-A p.Lys338Ile missense ADH5 1 81744 1.22333E-5 40872 0 NA
4-99993825-A-G p.Ser333Ser synonymous ADH5 1 81538 1.22642E-5 40769 0 NA
4-99993833-A-G p.Leu331Leu synonymous ADH5 3599 81358 0.0442366 40679 118 0.0624363
4-99993869-G-T c.962-7C>A splice_region ADH5 7561 80718 0.0936718 40359 394 0.0788887
4-99996058-G-A c.961+7C>T splice_region ADH5 16 81994 1.95136E-4 40997 0 1.40703E-4
4-99996059-A-C c.961+6T>G splice_region ADH5 1 82096 1.21809E-5 41048 0 7.56392E-5
4-99996076-G-T p.Thr317Asn missense ADH5 1 82528 1.21171E-5 41264 0 NA
4-99996096-T-C p.Thr310Thr synonymous ADH5 1 82644 1.21001E-5 41322 0 NA
4-99996101-C-G p.Val309Leu missense ADH5 1 82662 1.20975E-5 41331 0 NA
4-99996115-C-T p.Arg304His missense ADH5 2 82670 2.41926E-5 41335 0 0.00625
4-99996146-C-T p.Val294Ile missense ADH5 1 82642 1.21004E-5 41321 0 2.0091E-5
4-99996149-C-T p.Gly293Arg missense ADH5 1 82650 1.20992E-5 41325 0 NA
4-99996152-C-A p.Val292Phe missense ADH5 1 82650 1.20992E-5 41325 0 NA
4-99996155-C-T p.Val291Met missense ADH5 1 82632 1.21018E-5 41316 0 1.65719E-5
4-99996156-G-A p.Val290Val synonymous ADH5 1 82630 1.21021E-5 41315 0 NA
4-99996159-G-A p.Ser289Ser synonymous ADH5 3 82620 3.63108E-5 41310 0 1.65739E-5
4-99996165-GC-G p.Gly287fs frameshift ADH5 1 82570 1.21109E-5 41285 0 NA
4-99996201-CTGCAGGCACAGAGAT-C c.826-16_826-2delATCTCTGTGCCTGCA splice_acceptor ADH5 1 82172 1.21696E-5 41086 0 NA
4-99996206-G-A c.826-6C>T splice_region ADH5 2 82060 2.43724E-5 41030 0 3.18776E-5
4-99996208-C-A c.826-8G>T splice_region ADH5 25 81974 3.04975E-4 40987 0 3.50564E-4
4-99996208-C-T c.826-8G>A splice_region ADH5 2 81974 2.4398E-5 40987 0 8.39363E-6
4-99996372-TGTTG-T n.1909_*3delCAAC splice_region ADH5 10 48828 2.04801E-4 24414 0 NA
4-99996374-TTG-T n.1909_*1delCA splice_region ADH5 17 46778 3.63419E-4 23389 0 0.00190814
4-99996375-TG-T n.1909delC splice_region ADH5 13 45672 2.84638E-4 22836 0 0.0010917
4-99996376-GTT-G n.1907_1908delAA splice_region ADH5 4996 41660 0.119923 20830 716 0.160315
4-99996376-GT-G n.1908delA splice_region ADH5 19635 35192 0.557939 17596 7017 0.789269
4-99996376-GTTT-G n.1906_1908delAAA splice_region ADH5 51 42800 0.00119159 21400 4 1.54297E-4
4-99996376-G-T n.1909C>A splice_region ADH5 15 42798 3.50484E-4 21399 1 0.00397315
4-99996376-GT-TG n.1908_1909delACinsCA splice_region ADH5 6 42814 1.40141E-4 21407 0 NA
4-99996376-G-GTT n.1907_1908dupAA splice_region ADH5 2 42816 4.67115E-5 21408 0 NA
4-99996376-GTT-TTG n.1907_1909delAACinsCAA splice_region ADH5 1 42816 2.33558E-5 21408 0 NA
4-99996377-T-G n.1908A>C splice_region ADH5 35 17658 0.0019821 8829 0 4.37254E-4
4-99996378-T-G n.1907A>C splice_region ADH5 23 36644 6.27661E-4 18322 0 NA
4-99997466-A-C p.Cys268Gly missense ADH5 1 83116 1.20314E-5 41558 0 NA
4-99997471-A-C p.Phe266Cys missense ADH5 2 83146 2.40541E-5 41573 0 NA
4-99997493-C-T p.Asp259Asn missense ADH5 5 83222 6.00803E-5 41611 0 8.01745E-6
4-99997494-G-A p.Thr258Thr synonymous ADH5 1 83224 1.20158E-5 41612 0 2.00422E-5
4-99997516-TG-T p.Gln251fs frameshift ADH5 1 83258 1.20109E-5 41629 0 NA
4-99997525-T-A p.Lys248Ile missense ADH5 1 83244 1.20129E-5 41622 0 NA
4-99997538-G-T p.Gln244Lys missense ADH5 2 83310 2.40067E-5 41655 0 1.65629E-5
4-99997542-G-T p.Asn242Lys missense ADH5 1 83318 1.20022E-5 41659 0 8.28157E-6
4-99997557-G-A p.Ala237Ala synonymous ADH5 71 83344 8.51891E-4 41672 1 0.00361065
4-99997558-G-C p.Ala237Gly missense ADH5 8 83346 9.59854E-5 41673 0 5.7365E-4
4-99997558-G-A p.Ala237Val missense ADH5 1 83346 1.19982E-5 41673 0 4.00525E-6
4-99997568-C-G p.Glu234Gln missense ADH5 2 83346 2.39964E-5 41673 0 8.28199E-6
4-99997575-C-T p.Arg231Arg synonymous ADH5 1 83344 1.19985E-5 41672 0 4.00564E-6
4-99997580-C-T p.Ala230Thr missense ADH5 1 83334 1.19999E-5 41667 0 NA
4-99997586-T-A p.Lys228* stop_gained ADH5 4 83342 4.7995E-5 41671 0 6.37267E-5
4-99997586-T-C p.Lys228Glu missense ADH5 1 83342 1.19988E-5 41671 0 2.15349E-4
4-99997599-G-A p.Asp223Asp synonymous ADH5 1 83308 1.20036E-5 41654 0 NA
4-99997608-A-C p.Ile220Met missense ADH5 1 83304 1.20042E-5 41652 0 NA
4-99997615-C-T p.Arg218Gln missense ADH5 1 83264 1.201E-5 41632 0 2.48711E-5
4-99997616-G-A p.Arg218Trp missense ADH5 2 83288 2.40131E-5 41644 0 8.28926E-6
4-99997624-C-G p.Gly215Ala missense ADH5 2 83334 2.39998E-5 41667 0 8.01494E-6
4-99997624-C-A p.Gly215Val missense ADH5 1 83334 1.19999E-5 41667 0 3.20598E-5
4-99997625-C-T p.Gly215Ser missense ADH5 2 83346 2.39964E-5 41673 0 3.18512E-5
4-99997627-G-A p.Ala214Val missense ADH5 1 83352 1.19973E-5 41676 0 1.2738E-4
4-99997645-A-G p.Ile208Thr missense ADH5 4 83346 4.79927E-5 41673 0 9.55231E-5
4-99997655-A-G p.Leu205Leu synonymous ADH5 1 83334 1.19999E-5 41667 0 6.25E-4
4-99997658-C-T p.Gly204Arg missense ADH5 2 83324 2.40027E-5 41662 0 1.65928E-5
4-99997659-G-A p.Val203Val synonymous ADH5 3 83324 3.6004E-5 41662 0 8.29889E-6
4-99997670-G-GAACAA p.Gly201fs frameshift ADH5 1 83334 1.19999E-5 41667 0 NA
4-99997679-C-T p.Val197Ile missense ADH5 2 83320 2.40038E-5 41660 0 3.33344E-5
4-99997687-A-G p.Val194Ala missense ADH5 2 83318 2.40044E-5 41659 0 2.51235E-5
4-99997694-C-A p.Gly192Cys missense ADH5 1 83296 1.20054E-5 41648 0 NA
4-99997856-T-A p.Lys188Met missense+splice_region ADH5 2 82870 2.41342E-5 41435 0 NA
4-99997861-A-G p.Thr186Thr synonymous ADH5 1 82870 1.20671E-5 41435 0 NA
4-99997863-T-C p.Thr186Ala missense ADH5 2 82864 2.41359E-5 41432 0 2.53088E-5
4-99997874-G-C p.Ala182Gly missense ADH5 1 82866 1.20677E-5 41433 0 8.38223E-6
4-99997877-C-A p.Gly181Val missense ADH5 1 82868 1.20674E-5 41434 0 NA
4-99997883-C-T p.Gly179Asp missense ADH5 1 82862 1.20683E-5 41431 0 NA
4-99997884-C-T p.Gly179Ser missense ADH5 1 82858 1.20688E-5 41429 0 1.67143E-5
4-99997885-G-A p.Thr178Thr synonymous ADH5 152 82860 0.00183442 41430 0 0.00302115
4-99997920-C-A p.Asp167Tyr missense ADH5 100 82854 0.00120694 41427 0 0.00251762
4-99997931-A-G p.Leu163Ser missense ADH5 427 82828 0.00515526 41414 10 0.0078329
4-99997936-A-G p.Asp161Asp synonymous ADH5 1 82840 1.20715E-5 41420 0 NA
4-99997946-G-C p.Ala158Gly missense ADH5 1 82814 1.20753E-5 41407 0 NA
4-99997955-A-G p.Ile155Thr missense ADH5 6 82800 7.24638E-5 41400 0 6.67824E-5
4-99997985-G-A p.Thr145Ile missense ADH5 1 82732 1.20872E-5 41366 0 8.4052E-6
4-99997987-G-A p.Ser144Ser synonymous ADH5 1 82724 1.20884E-5 41362 0 3.18532E-5
4-99997988-C-G p.Ser144Thr missense ADH5 3 82722 3.6266E-5 41361 0 1.68362E-5
4-99997998-T-C p.Met141Val missense ADH5 3 82682 3.62836E-5 41341 0 6.25E-4
4-99998017-T-C p.Gly134Gly synonymous ADH5 6 82520 7.27096E-5 41260 0 4.01868E-5
4-99998019-C-T p.Gly134Arg missense ADH5 1 82480 1.21242E-5 41240 0 4.01923E-6
4-99998025-A-C p.Cys132Gly missense ADH5 2 82410 2.42689E-5 41205 0 NA
4-99998028-T-C p.Thr131Ala missense ADH5 6 82368 7.28438E-5 41184 0 0.0025
4-99998039-G-A p.Thr127Ile missense ADH5 2 82132 2.4351E-5 41066 0 4.028E-6
4-99998048-G-A p.Pro124Leu missense ADH5 2 81968 2.43998E-5 40984 0 4.03574E-6
4-99998060-T-C p.Lys120Arg missense ADH5 1 81672 1.22441E-5 40836 0 4.65584E-5
4-99998075-C-T c.345-1G>A splice_acceptor ADH5 1 81108 1.23292E-5 40554 0 NA
4-99998080-G-GA c.345-7_345-6insT splice_region ADH5 4 80676 4.9581E-5 40338 0 0.00384988
4-99998080-GAAAA-G c.345-10_345-7delTTTT splice_region ADH5 14 80808 1.7325E-4 40404 0 8.93804E-5
4-99998080-GA-G c.345-7delT splice_region ADH5 1 80806 1.23753E-5 40403 0 9.42279E-4
4-100002510-A-G c.344+6T>C splice_region ADH5 1 81974 1.2199E-5 40987 0 NA
4-100002532-GGTTA-G p.Asn109fs frameshift ADH5 3 82444 3.63883E-5 41222 0 3.18492E-5
4-100002532-G-A p.Leu110Phe missense ADH5 3 82444 3.63883E-5 41222 0 7.09799E-5
4-100002537-G-C p.Thr108Ser missense ADH5 9 82466 1.09136E-4 41233 0 0.001875
4-100002545-A-G p.Ser95Pro missense ADH5 1 82522 1.2118E-5 41261 0 6.3678E-5
4-100002562-A-T p.Cys100Ser missense ADH5 1 82586 1.21086E-5 41293 0 NA
4-100002564-T-C p.Glu99Gly missense ADH5 1 82582 1.21092E-5 41291 0 NA
4-100002596-A-G p.Leu41Pro missense ADH5 1 82556 1.2113E-5 41278 0 5.23149E-5
4-100003127-C-T p.Ala85Ala splice_region+synonymous ADH5 4 81692 4.89644E-5 40846 0 6.36943E-5
4-100003128-G-A p.Ala85Val missense+splice_region ADH5 1 81720 1.22369E-5 40860 0 1.66273E-5
4-100003153-C-T p.Gly73Ser missense+splice_region ADH5 1 82238 1.21598E-5 41119 0 NA
4-100003160-T-C p.Glu74Glu synonymous ADH5 1 82326 1.21468E-5 41163 0 1.65791E-5
4-100003178-T-C p.Glu68Glu synonymous ADH5 2 82532 2.4233E-5 41266 0 6.3678E-5
4-100003193-C-A p.Val63Val synonymous ADH5 5 82604 6.05298E-5 41302 0 8.285E-6
4-100003210-C-CTATTTATGA p.Pro57_Glu58insSerTerIle stop_gained ADH5 1 82692 1.20931E-5 41346 0 NA
4-100003233-T-C p.Tyr50Cys missense ADH5 2 82750 2.41692E-5 41375 0 4.01284E-6
4-100003241-G-A p.Thr47Thr synonymous ADH5 1 82754 1.2084E-5 41377 0 4.14415E-5
4-100003253-C-T p.Ala43Ala synonymous ADH5 45 82748 5.4382E-4 41374 0 4.77494E-4
4-100006260-CATT-C c.114+3_114+5delAAT splice_region ADH5 3 78704 3.81175E-5 39352 1 NA
4-100006265-C-T c.114+1G>A splice_donor ADH5 1 79046 1.26509E-5 39523 0 NA
4-100006273-C-T p.Arg36Gln missense ADH5 8 79364 1.00801E-4 39682 0 1.1869E-4
4-100006273-C-A p.Arg36Leu missense ADH5 2 79364 2.52003E-5 39682 0 NA
4-100006274-G-A p.Arg36* stop_gained ADH5 1 79220 1.26231E-5 39610 0 3.86458E-5
4-100006274-G-C p.Arg36Gly missense ADH5 2 79220 2.52462E-5 39610 0 NA
4-100006297-G-A p.Ala28Val missense ADH5 1 80554 1.2414E-5 40277 0 NA
4-100006310-C-A p.Glu24* stop_gained ADH5 1 81174 1.23192E-5 40587 0 1.04902E-5
4-100006316-T-C p.Ile22Val missense ADH5 1 81220 1.23122E-5 40610 0 3.18471E-5
4-100006335-C-A p.Glu15Asp missense ADH5 1 81148 1.23232E-5 40574 0 3.18471E-5
4-100006358-A-C p.Cys8Gly missense ADH5 2 80816 2.47476E-5 40408 0 6.66018E-6
4-100006367-C-T p.Val5Ile missense+splice_region ADH5 3 80122 3.74429E-5 40061 0 2.14946E-4
4-100006367-C-A p.Val5Phe missense+splice_region ADH5 1 80124 1.24807E-5 40062 0 NA
4-100006368-CTG-C c.13-3_13-2delCA splice_acceptor ADH5 1 80188 1.24707E-5 40094 0 7.71724E-6
4-100006372-AGTGGGG-A c.13-11_13-6delCCCCAC splice_region ADH5 1 79892 1.25169E-5 39946 0 1.62973E-5
4-100006561-T-C c.*184+4A>G splice_region ADH5 8 34490 2.31951E-4 17245 0 1.59205E-4
4-100006562-T-C c.*184+3A>G splice_region ADH5 1 34096 2.9329E-5 17048 0 3.18431E-5
4-100006770-C-T p.Pro9Pro synonymous ADH5 1 7220 1.38504E-4 3610 0 1.59215E-4
4-100006776-G-A p.Thr7Thr synonymous ADH5 1 6804 1.46972E-4 3402 0 NA
4-100006780-C-T p.Cys6Tyr missense ADH5 2 6810 2.93686E-4 3405 0 3.18512E-4
4-100009832-G-A c.12+8C>T splice_region ADH5 1 79930 1.25109E-5 39965 0 3.18878E-5
4-100009832-G-C c.12+8C>G splice_region ADH5 2 79930 2.50219E-5 39965 0 NA
4-100009833-G-A c.12+7C>T splice_region ADH5 1 79898 1.2516E-5 39949 0 4.08861E-6
4-100009834-C-A c.12+6G>T splice_region ADH5 7 79990 8.75109E-5 39995 0 8.493E-5
4-100009834-C-T c.12+6G>A splice_region ADH5 4 79990 5.00063E-5 39995 0 2.5479E-5
4-100009835-C-G c.12+5G>C splice_region ADH5 2 80038 2.49881E-5 40019 0 8.49271E-6
4-100009837-T-C c.12+3A>G splice_region ADH5 2 80038 2.49881E-5 40019 0 1.10441E-4
4-100009839-C-T c.12+1G>A splice_donor ADH5 7 80060 8.74344E-5 40030 0 1.63582E-5
4-100009844-T-C p.Asn3Ser missense ADH5 1 80124 1.24807E-5 40062 0 8.18284E-6
4-100009846-C-T p.Ala2Ala synonymous ADH5 1 80142 1.24779E-5 40071 0 7.65306E-5
4-100009851-T-C p.Met1? start_lost ADH5 5 80160 6.23752E-5 40080 0 3.68611E-5
4-100009851-T-A p.Met1? initiator_codon ADH5 3 80160 3.74252E-5 40080 0 NA
4-100009859-G-C c.-8C>G 5_prime_UTR_premature_start_codon_gain ADH5 7 80208 8.72731E-5 40104 0 9.5645E-5
4-100009869-G-A c.-18C>T 5_prime_UTR_premature_start_codon_gain ADH5 64 79904 8.00961E-4 39952 2 0.0125