Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-102096687-T-C c.*1154A>G splice_region ALKBH4 1 45108 2.2169E-5 22554 0 NA
7-102097280-AT-A c.*1249delA splice_region ALKBH4 3 346 0.00867052 173 0 0.0206758
7-102097846-C-T p.Val302Met missense ALKBH4 2 82182 2.43362E-5 41091 0 6.37024E-5
7-102097847-G-A p.Pro301Pro synonymous ALKBH4 14 82198 1.7032E-4 41099 0 1.54374E-4
7-102097850-T-C p.Arg300Arg synonymous ALKBH4 1 82246 1.21586E-5 41123 0 NA
7-102097871-G-A p.Ile293Ile synonymous ALKBH4 2 82392 2.42742E-5 41196 0 8.40958E-6
7-102097875-C-T p.Arg292Gln missense ALKBH4 4 82410 4.85378E-5 41205 0 2.79499E-5
7-102097876-G-C p.Arg292Gly missense ALKBH4 1 82424 1.21324E-5 41212 0 3.99249E-6
7-102097901-C-T p.Gln283Gln synonymous ALKBH4 1 82330 1.21462E-5 41165 0 9.55292E-5
7-102097907-C-T p.Gly281Gly synonymous ALKBH4 1 82380 1.21389E-5 41190 0 NA
7-102097923-T-C p.Glu276Gly missense ALKBH4 2 82266 2.43114E-5 41133 0 3.18654E-5
7-102097929-G-A p.Ser274Leu missense ALKBH4 1 82234 1.21604E-5 41117 0 2.52169E-5
7-102097939-G-A p.Arg271Trp missense ALKBH4 2 82218 2.43256E-5 41109 0 1.20055E-5
7-102097948-C-T p.Val268Ile missense ALKBH4 1 82124 1.21767E-5 41062 0 2.53721E-5
7-102097949-G-A p.Cys267Cys synonymous ALKBH4 4 82102 4.87199E-5 41051 0 3.18756E-5
7-102097954-C-T p.Val266Ile missense ALKBH4 1 82002 1.21948E-5 41001 0 1.96914E-4
7-102097955-G-A p.Arg265Arg synonymous ALKBH4 1 81966 1.22002E-5 40983 0 1.02136E-4
7-102097956-C-T p.Arg265His missense ALKBH4 2 81930 2.44111E-5 40965 0 6.37552E-5
7-102097957-G-A p.Arg265Cys missense ALKBH4 4 81928 4.88234E-5 40964 0 8.53577E-6
7-102097962-G-A p.Ala263Val missense ALKBH4 1 81750 1.22324E-5 40875 0 0.00125
7-102097966-C-G p.Glu262Gln missense ALKBH4 40 81568 4.90388E-4 40784 2 2.09416E-4
7-102097967-G-T p.Ile261Ile synonymous ALKBH4 1 81488 1.22717E-5 40744 0 8.55886E-6
7-102097970-G-A p.His260His synonymous ALKBH4 37 81546 4.53732E-4 40773 0 3.17509E-4
7-102097977-C-T p.Arg258His missense ALKBH4 3 81348 3.68786E-5 40674 0 0.00251762
7-102097985-G-A p.Ala255Ala synonymous ALKBH4 2 81450 2.45549E-5 40725 0 6.37146E-5
7-102098002-G-A p.His250Tyr missense ALKBH4 2 81238 2.4619E-5 40619 0 NA
7-102098005-G-A p.Arg249Trp missense ALKBH4 2 81148 2.46463E-5 40574 0 0.00100806
7-102098010-G-A p.Ala247Val missense ALKBH4 11264 80768 0.139461 40384 868 0.1775
7-102098014-C-T p.Gly246Arg missense ALKBH4 14 81114 1.72597E-4 40557 0 1.38722E-4
7-102098014-C-G p.Gly246Arg missense ALKBH4 4 81114 4.93133E-5 40557 0 6.36983E-5
7-102098015-G-A p.Thr245Thr synonymous ALKBH4 3 81134 3.69759E-5 40567 0 3.70048E-5
7-102098027-C-A p.Leu241Leu synonymous ALKBH4 2 81156 2.46439E-5 40578 0 NA
7-102098033-G-A p.Arg239Arg synonymous ALKBH4 1 81086 1.23326E-5 40543 0 NA
7-102098034-C-T p.Arg239His missense ALKBH4 1 80952 1.2353E-5 40476 0 2.11945E-5
7-102098035-G-A p.Arg239Cys missense ALKBH4 64 81008 7.90045E-4 40504 0 0.00124259
7-102098038-C-A p.Ala238Ser missense ALKBH4 2 80900 2.47219E-5 40450 0 4.38366E-5
7-102098039-G-A p.Pro237Pro synonymous ALKBH4 3 80940 3.70645E-5 40470 0 2.20882E-5
7-102098055-AC-A p.Val232fs frameshift ALKBH4 1 80480 1.24254E-5 40240 0 4.4131E-6
7-102098060-C-T p.Val230Val synonymous ALKBH4 1 80630 1.24023E-5 40315 0 NA
7-102098073-A-G p.Leu226Pro missense ALKBH4 1 80428 1.24335E-5 40214 0 4.65653E-6
7-102098074-G-C p.Leu226Val missense ALKBH4 2 80362 2.48874E-5 40181 0 4.76009E-6
7-102098083-G-A p.Arg223Trp missense ALKBH4 6 80176 7.48354E-5 40088 0 1.86713E-5
7-102098098-C-T p.Val218Met missense ALKBH4 3 79808 3.75902E-5 39904 0 2.29674E-4
7-102098106-A-G p.Val215Ala missense ALKBH4 1 79606 1.25619E-5 39803 0 NA
7-102098111-G-A p.Ala213Ala synonymous ALKBH4 1 79670 1.25518E-5 39835 0 3.18613E-5
7-102098117-C-T p.Pro211Pro synonymous ALKBH4 2 79206 2.52506E-5 39603 0 3.18715E-5
7-102098118-G-A p.Pro211Leu missense ALKBH4 1 79252 1.2618E-5 39626 0 6.9913E-5
7-102098126-C-T p.Ser208Ser synonymous ALKBH4 3 78770 3.80856E-5 39385 0 9.48827E-5
7-102098127-GA-TC p.Ser208Glu missense ALKBH4 1 78854 1.26817E-5 39427 0 NA
7-102098129-C-T p.Pro207Pro synonymous ALKBH4 1 78746 1.26991E-5 39373 0 3.18188E-5
7-102098131-G-A p.Pro207Ser missense ALKBH4 1 78706 1.27055E-5 39353 0 3.18634E-5
7-102098135-C-T p.Ser205Ser synonymous ALKBH4 3 78340 3.82946E-5 39170 0 3.17078E-5
7-102098145-A-T p.Leu202His missense ALKBH4 2 78068 2.56187E-5 39034 0 NA
7-102098147-C-T p.Leu201Leu synonymous ALKBH4 314 77904 0.0040306 38952 7 0.00819097
7-102098156-G-A p.Pro198Pro synonymous ALKBH4 5 77352 6.46396E-5 38676 0 3.18613E-5
7-102098158-G-A p.Pro198Ser missense ALKBH4 1 77062 1.29766E-5 38531 0 5.83942E-6
7-102098159-C-T p.Ala197Ala synonymous ALKBH4 20 76908 2.60051E-4 38454 0 4.46116E-4
7-102098166-C-T p.Arg195Gln missense ALKBH4 1 77294 1.29376E-5 38647 0 NA
7-102098170-A-C p.Cys194Gly missense ALKBH4 2 77240 2.58933E-5 38620 0 5.06586E-4
7-102098177-C-T p.Leu191Leu synonymous ALKBH4 106 77262 0.00137196 38631 1 0.013664
7-102098180-C-CA p.Leu191fs frameshift ALKBH4 1 77052 1.29782E-5 38526 0 NA
7-102098182-C-T p.Val190Met missense ALKBH4 2 76816 2.60362E-5 38408 0 3.18796E-5
7-102098183-G-A p.Thr189Thr synonymous ALKBH4 2 77066 2.59518E-5 38533 0 2.41103E-5
7-102098186-G-C p.Pro188Pro synonymous ALKBH4 6 77166 7.77544E-5 38583 0 2.45305E-5
7-102098188-G-A p.Pro188Ser missense ALKBH4 1 77128 1.29655E-5 38564 0 6.37308E-5
7-102098188-G-C p.Pro188Ala missense ALKBH4 1 77128 1.29655E-5 38564 0 4.88806E-6
7-102098194-G-A p.Leu186Leu synonymous ALKBH4 1 77190 1.2955E-5 38595 0 4.76717E-6
7-102098204-G-A p.Ser182Ser synonymous ALKBH4 90 77048 0.0011681 38524 0 0.00606673
7-102098223-C-A p.Trp176Leu missense ALKBH4 5 78406 6.37706E-5 39203 0 3.18715E-5
7-102098234-G-A p.Asp172Asp synonymous ALKBH4 4 78578 5.09048E-5 39289 0 6.37389E-5
7-102098237-G-A p.Asp171Asp synonymous ALKBH4 7 78760 8.88776E-5 39380 0 0.00125
7-102098247-G-T p.Pro168His missense ALKBH4 1 79260 1.26167E-5 39630 0 1.99041E-5
7-102098252-A-T p.Ile166Ile synonymous ALKBH4 2 79450 2.51731E-5 39725 0 NA
7-102098253-A-C p.Ile166Ser missense ALKBH4 110 79466 0.00138424 39733 0 0.00132914
7-102098253-A-G p.Ile166Thr missense ALKBH4 1 79478 1.25821E-5 39739 0 8.32161E-6
7-102098256-G-A p.Ala165Val missense ALKBH4 1 79544 1.25717E-5 39772 0 NA
7-102098259-G-A p.Ser164Phe missense ALKBH4 1 79692 1.25483E-5 39846 0 NA
7-102098262-C-T p.Gly163Asp missense ALKBH4 1 79718 1.25442E-5 39859 0 2.83897E-5
7-102098263-C-A p.Gly163Cys missense ALKBH4 1 79866 1.2521E-5 39933 0 NA
7-102098265-C-T p.Arg162Gln missense ALKBH4 3 79906 3.75441E-5 39953 0 8.27588E-6
7-102098266-G-A p.Arg162Trp missense ALKBH4 16 79924 2.0019E-4 39962 0 1.39904E-4
7-102098269-C-T p.Glu161Lys missense ALKBH4 1 80096 1.2485E-5 40048 0 9.25052E-6
7-102098270-G-A p.Pro160Pro synonymous ALKBH4 6 80184 7.48279E-5 40092 0 1.84101E-5
7-102098290-A-G p.Cys154Arg missense ALKBH4 4 81354 4.91678E-5 40677 0 1.21834E-5
7-102098296-C-T p.Glu152Lys missense ALKBH4 4 81588 4.90268E-5 40794 0 9.56511E-5
7-102098297-G-A p.Val151Val synonymous ALKBH4 17 81702 2.08073E-4 40851 0 0.00100705
7-102098299-C-T p.Val151Ile missense ALKBH4 5 81786 6.11352E-5 40893 0 3.64573E-5
7-102098300-G-A p.Pro150Pro synonymous ALKBH4 6 81892 7.32672E-5 40946 0 3.64157E-5
7-102098305-G-A p.Arg149Trp missense ALKBH4 2 82140 2.43487E-5 41070 0 2.8273E-5
7-102098317-G-T p.Leu145Met missense ALKBH4 36 82410 4.3684E-4 41205 0 0.00302419
7-102098321-C-T p.Pro143Pro synonymous ALKBH4 2 82488 2.4246E-5 41244 0 4.42535E-5
7-102098322-G-A p.Pro143Leu missense ALKBH4 2 82516 2.42377E-5 41258 0 4.2914E-5
7-102098334-A-G p.Met139Thr missense ALKBH4 1 82770 1.20817E-5 41385 0 NA
7-102098340-C-T p.Arg137Gln missense ALKBH4 57 82806 6.88356E-4 41403 0 9.66511E-4
7-102098341-G-A p.Arg137Trp missense ALKBH4 2 82806 2.41528E-5 41403 0 8.4717E-6
7-102098344-C-T p.Val136Met missense ALKBH4 1 82872 1.20668E-5 41436 0 1.69262E-5
7-102098349-T-C p.Glu134Gly missense ALKBH4 1 82890 1.20642E-5 41445 0 NA
7-102098352-C-T p.Arg133Gln missense ALKBH4 7 82922 8.44167E-5 41461 0 6.00548E-5
7-102098353-G-A p.Arg133Trp missense ALKBH4 2 82928 2.41173E-5 41464 0 5.06346E-5
7-102098372-G-A p.Cys126Cys synonymous ALKBH4 5 83082 6.01815E-5 41541 0 6.00702E-5
7-102098373-C-A p.Cys126Phe missense ALKBH4 1 83082 1.20363E-5 41541 0 4.00375E-6
7-102098382-T-TA p.Glu123fs frameshift ALKBH4 1 83114 1.20317E-5 41557 0 NA
7-102098382-T-C p.Glu123Gly missense ALKBH4 1 83114 1.20317E-5 41557 0 NA
7-102098383-C-G p.Glu123Gln missense ALKBH4 1 83110 1.20322E-5 41555 0 NA
7-102098390-T-C p.Leu120Leu synonymous ALKBH4 1 83126 1.20299E-5 41563 0 3.18471E-5
7-102098403-C-T p.Arg116Gln missense ALKBH4 1 83070 1.2038E-5 41535 0 6.84978E-5
7-102098403-C-G p.Arg116Pro missense ALKBH4 1 83070 1.2038E-5 41535 0 NA
7-102098404-G-A p.Arg116Trp missense ALKBH4 2 83076 2.40743E-5 41538 0 1.71268E-5
7-102098407-A-T p.Phe115Ile missense ALKBH4 1 83082 1.20363E-5 41541 0 NA
7-102098417-G-C p.Pro111Pro synonymous ALKBH4 2 83030 2.40877E-5 41515 0 NA
7-102098424-T-C p.Tyr109Cys missense ALKBH4 1 82960 1.2054E-5 41480 0 4.08343E-6
7-102098433-A-G c.322-5T>C splice_region ALKBH4 1 82886 1.20648E-5 41443 0 3.18451E-5
7-102100043-C-T c.321+8G>A splice_region ALKBH4 1 82486 1.21233E-5 41243 0 3.24049E-5
7-102100044-G-A c.321+7C>T splice_region ALKBH4 30 82562 3.63363E-4 41281 0 9.69235E-5
7-102100061-C-T p.Arg104Gln missense ALKBH4 1 82926 1.20589E-5 41463 0 1.68053E-5
7-102100062-G-A p.Arg104Trp missense ALKBH4 6 82948 7.23345E-5 41474 0 0.00125
7-102100080-T-C p.Lys98Glu missense ALKBH4 1 83112 1.2032E-5 41556 0 5.03525E-4
7-102100087-G-A p.Asp95Asp synonymous ALKBH4 6 83148 7.21605E-5 41574 0 1.32385E-4
7-102100091-C-T p.Arg94His missense ALKBH4 4 83146 4.81081E-5 41573 0 7.56255E-5
7-102100092-G-A p.Arg94Cys missense ALKBH4 1 83168 1.20239E-5 41584 0 NA
7-102100103-C-T p.Arg90Gln missense ALKBH4 4 83234 4.80573E-5 41617 0 6.25E-4
7-102100107-C-G p.Val89Leu missense ALKBH4 1 83230 1.20149E-5 41615 0 NA
7-102100113-C-T p.Glu87Lys missense ALKBH4 3 83270 3.60274E-5 41635 0 3.18471E-5
7-102100114-G-A p.Ala86Ala synonymous ALKBH4 1 83264 1.201E-5 41632 0 8.25437E-6
7-102100127-C-T p.Arg82Gln missense ALKBH4 2 83278 2.40159E-5 41639 0 9.55414E-5
7-102100128-G-A p.Arg82Trp missense ALKBH4 2 83264 2.402E-5 41632 0 0.00100705
7-102100130-G-A p.Thr81Ile missense ALKBH4 2 83280 2.40154E-5 41640 0 NA
7-102100130-G-T p.Thr81Asn missense ALKBH4 1 83280 1.20077E-5 41640 0 NA
7-102100140-C-G p.Asp78His missense ALKBH4 1 83268 1.20094E-5 41634 0 1.98888E-5
7-102100142-T-C p.Glu77Gly missense ALKBH4 1 83278 1.2008E-5 41639 0 7.95564E-6
7-102100146-T-A p.Ile76Phe missense ALKBH4 1 83262 1.20103E-5 41631 0 3.97795E-6
7-102100147-C-T p.Leu75Leu synonymous ALKBH4 1 83250 1.2012E-5 41625 0 3.9782E-6
7-102100159-T-C c.124-2A>G splice_acceptor ALKBH4 1 83266 1.20097E-5 41633 0 NA
7-102100168-G-A p.Phe68Phe synonymous ALKBH4 2 83286 2.40136E-5 41643 0 6.36902E-5
7-102100197-C-G p.Glu59Gln missense ALKBH4 1 83246 1.20126E-5 41623 0 NA
7-102100199-G-A p.Thr58Ile missense ALKBH4 1 83226 1.20155E-5 41613 0 3.18431E-5
7-102100202-C-T p.Gly57Asp missense ALKBH4 1 83240 1.20135E-5 41620 0 NA
7-102100206-C-T p.Val56Met missense ALKBH4 1 83216 1.20169E-5 41608 0 6.36983E-5
7-102100207-G-A p.Ala55Ala synonymous ALKBH4 10 83222 1.20161E-4 41611 0 4.82447E-5
7-102100216-G-A p.Thr52Thr synonymous ALKBH4 10 83248 1.20123E-4 41624 0 2.3451E-4
7-102100221-C-G p.Asp51His missense ALKBH4 1 83228 1.20152E-5 41614 0 1.21775E-5
7-102100221-C-T p.Asp51Asn missense ALKBH4 1 83226 1.20155E-5 41613 0 3.18654E-5
7-102100221-C-A p.Asp51Tyr missense ALKBH4 1 83228 1.20152E-5 41614 0 4.05917E-6
7-102100222-G-A p.Ser50Ser synonymous ALKBH4 6 83234 7.20859E-5 41617 0 2.55306E-5
7-102100228-G-A p.Tyr48Tyr synonymous ALKBH4 1 83224 1.20158E-5 41612 0 6.25E-4
7-102100238-C-T p.Arg45His missense ALKBH4 1 83144 1.20273E-5 41572 0 1.68291E-5
7-102100240-G-A p.Tyr44Tyr synonymous ALKBH4 2 83104 2.40662E-5 41552 0 2.96296E-5
7-102100243-T-A p.Thr43Thr synonymous ALKBH4 2 83090 2.40703E-5 41545 0 8.74309E-6
7-102105153-C-T c.123+8G>A splice_region ALKBH4 1 78436 1.27492E-5 39218 0 NA
7-102105170-C-A p.Leu38Leu synonymous ALKBH4 1 79174 1.26304E-5 39587 0 5.03525E-4
7-102105175-C-T p.Glu37Lys missense ALKBH4 1 79276 1.26142E-5 39638 0 NA
7-102105187-C-G p.Asp33His missense ALKBH4 2 79266 2.52315E-5 39633 0 NA
7-102105196-G-A p.Arg30Cys missense ALKBH4 8 79284 1.00903E-4 39642 0 4.92233E-5
7-102105197-C-A p.Gln29His missense ALKBH4 1 79348 1.26027E-5 39674 0 NA
7-102105201-C-T p.Arg28Gln missense ALKBH4 1 79334 1.26049E-5 39667 0 NA
7-102105207-C-G p.Cys26Ser missense ALKBH4 4 79330 5.04223E-5 39665 0 6.37389E-5
7-102105213-A-G p.Leu24Pro missense ALKBH4 1 79346 1.2603E-5 39673 0 NA
7-102105217-A-G p.Cys23Arg missense ALKBH4 5 79202 6.31297E-5 39601 0 6.3743E-5
7-102105218-G-A p.Thr22Thr synonymous ALKBH4 1 79160 1.26326E-5 39580 0 NA
7-102105222-C-T p.Arg21Gln missense ALKBH4 1 79016 1.26557E-5 39508 0 4.95756E-6
7-102105232-T-C p.Lys18Glu missense ALKBH4 1 78624 1.27188E-5 39312 0 NA
7-102105234-C-T p.Cys17Tyr missense ALKBH4 13 78420 1.65774E-4 39210 0 2.96675E-4
7-102105235-A-G p.Cys17Arg missense ALKBH4 2 78342 2.55291E-5 39171 0 NA
7-102105238-C-T p.Gly16Ser missense ALKBH4 16 78196 2.04614E-4 39098 0 6.25782E-4
7-102105256-C-T p.Glu10Lys missense ALKBH4 1 76544 1.30644E-5 38272 0 2.16957E-5
7-102105265-C-G p.Glu7Gln missense ALKBH4 1 75310 1.32784E-5 37655 0 3.05493E-5
7-102105266-G-A p.Ala6Ala synonymous ALKBH4 1 75284 1.3283E-5 37642 0 NA
7-102105268-C-T p.Ala6Thr missense ALKBH4 1 74752 1.33776E-5 37376 0 6.78841E-5
7-102105269-G-A p.Ala5Ala synonymous ALKBH4 1 74782 1.33722E-5 37391 0 7.82767E-6
7-102105274-C-T p.Ala4Thr missense ALKBH4 10 74174 1.34818E-4 37087 1 0.00126263
7-102105274-C-G p.Ala4Pro missense ALKBH4 1 74174 1.34818E-5 37087 0 7.89827E-5
7-102105275-C-G p.Ala3Ala synonymous ALKBH4 5 73990 6.75767E-5 36995 0 0.00100654
7-102105290-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ALKBH4 1 72700 1.37552E-5 36350 0 NA
7-102105296-G-A c.-13C>T 5_prime_UTR_premature_start_codon_gain ALKBH4 72 72064 9.99112E-4 36032 4 0.0017536
7-102105315-G-A c.-32C>T 5_prime_UTR_premature_start_codon_gain ALKBH4 1 68142 1.46752E-5 34071 0 NA