Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-107375238-A-T p.His224Gln missense ALKBH8 1 71840 1.39198E-5 35920 0 7.10601E-6
11-107375251-T-C p.Glu220Gly missense ALKBH8 1 73846 1.35417E-5 36923 0 NA
11-107375252-C-A p.Glu220* stop_gained ALKBH8 4 73944 5.4095E-5 36972 0 1.39813E-5
11-107375254-A-G p.Leu219Ser missense ALKBH8 97 74130 0.00130851 37065 0 9.87261E-4
11-107375324-TTC-T c.*858_*859delGA splice_region ALKBH8 3 81762 3.66919E-5 40881 0 NA
11-107375389-C-T p.Ala664Thr missense ALKBH8 1 82622 1.21033E-5 41311 0 NA
11-107375390-C-T p.Lys663Lys synonymous ALKBH8 1 82632 1.21018E-5 41316 0 3.18918E-5
11-107375401-T-A p.Ile660Phe missense ALKBH8 2 82638 2.42019E-5 41319 0 NA
11-107375404-C-G p.Val659Leu missense ALKBH8 2 82636 2.42025E-5 41318 0 NA
11-107375406-C-G p.Cys658Ser missense ALKBH8 1 82628 1.21024E-5 41314 0 4.54463E-5
11-107375413-T-G p.Asn656His missense ALKBH8 1 82640 1.21007E-5 41320 0 6.41429E-6
11-107375418-T-C p.Gln654Arg missense ALKBH8 27 82630 3.26758E-4 41315 0 2.54842E-4
11-107375422-C-A p.Asp653Tyr missense ALKBH8 1522 82590 0.0184284 41295 29 0.0357143
11-107375422-CGT-AGA p.TyrAsp652PheTyr missense ALKBH8 1 82628 1.21024E-5 41314 0 NA
11-107375424-T-C p.Tyr652Cys missense ALKBH8 1 82626 1.21027E-5 41313 0 6.35712E-6
11-107375425-A-G p.Tyr652His missense ALKBH8 1 82630 1.21021E-5 41315 0 NA
11-107375447-A-G p.Asp644Asp synonymous ALKBH8 8 82618 9.68312E-5 41309 0 3.18654E-5
11-107375449-C-T p.Asp644Asn missense ALKBH8 1 82598 1.21068E-5 41299 0 NA
11-107375455-C-G p.Val642Leu missense ALKBH8 1 82578 1.21098E-5 41289 0 6.32871E-6
11-107375482-C-T p.Gly633Arg missense ALKBH8 1 82480 1.21242E-5 41240 0 NA
11-107375487-C-T p.Arg631His missense ALKBH8 24 82472 2.91008E-4 41236 0 0.00611247
11-107375488-G-A p.Arg631Cys missense ALKBH8 6 82468 7.27555E-5 41234 2 3.16024E-5
11-107375493-A-G p.Val629Ala missense ALKBH8 1 82472 1.21253E-5 41236 0 NA
11-107375505-C-T p.Arg625His missense ALKBH8 2 82484 2.42471E-5 41242 0 6.37471E-5
11-107375520-C-A p.Ser620Ile missense ALKBH8 1 82512 1.21194E-5 41256 0 4.42713E-5
11-107375531-G-A p.Ser616Ser synonymous ALKBH8 1 82546 1.21145E-5 41273 0 6.34526E-6
11-107375538-A-G p.Ile614Thr missense ALKBH8 2 82562 2.42242E-5 41281 0 6.25E-4
11-107375545-C-A p.Gly612Cys missense ALKBH8 663 82566 0.00802994 41283 13 0.0173744
11-107375553-T-C p.Glu609Gly missense ALKBH8 1 82546 1.21145E-5 41273 0 NA
11-107375559-G-C p.Pro607Arg missense ALKBH8 49 82546 5.93608E-4 41273 1 0.00173558
11-107375565-C-T p.Gly605Asp missense ALKBH8 2 82514 2.42383E-5 41257 0 9.0009E-5
11-107375587-G-C p.Leu598Val missense ALKBH8 1 82478 1.21244E-5 41239 0 NA
11-107375590-G-A p.His597Tyr missense ALKBH8 2 82444 2.42589E-5 41222 0 4.49964E-5
11-107375597-A-C p.Val594Val synonymous ALKBH8 2 82426 2.42642E-5 41213 0 NA
11-107375599-C-T p.Val594Ile missense ALKBH8 1 82430 1.21315E-5 41215 0 NA
11-107375605-C-T p.Val592Ile missense ALKBH8 1 82408 1.21347E-5 41204 0 3.18573E-5
11-107375616-T-TA p.Tyr588fs frameshift ALKBH8 1 82404 1.21353E-5 41202 0 NA
11-107375617-A-T p.Tyr588Asn missense ALKBH8 1 82412 1.21342E-5 41206 0 6.36902E-5
11-107375637-T-G p.His581Pro missense ALKBH8 1 82442 1.21297E-5 41221 0 6.33714E-6
11-107375641-C-T p.Val580Ile missense ALKBH8 1 82450 1.21286E-5 41225 0 NA
11-107375652-G-A p.Ser576Phe missense ALKBH8 2 82518 2.42371E-5 41259 0 NA
11-107375667-C-T p.Arg571Lys missense ALKBH8 209 82580 0.00253088 41290 2 0.004842
11-107375670-G-A p.Ser570Leu missense ALKBH8 2 82592 2.42154E-5 41296 0 1.2663E-5
11-107375679-C-T p.Gly567Glu missense ALKBH8 317 82644 0.00383573 41322 1 0.00576653
11-107375686-C-T p.Glu565Lys missense ALKBH8 1 82676 1.20954E-5 41338 0 4.46389E-5
11-107375696-A-G p.Asn561Asn synonymous ALKBH8 1 82696 1.20925E-5 41348 0 NA
11-107375703-C-T p.Arg559His missense ALKBH8 134 82706 0.0016202 41353 1 0.00123457
11-107375704-G-A p.Arg559Cys missense ALKBH8 1 82698 1.20922E-5 41349 0 0.00123457
11-107375704-G-C p.Arg559Gly missense ALKBH8 1 82698 1.20922E-5 41349 0 NA
11-107375720-C-T p.Ser553Ser synonymous ALKBH8 3 82716 3.62687E-5 41358 0 4.50857E-5
11-107375721-G-A p.Ser553Leu missense ALKBH8 1 82722 1.20887E-5 41361 0 6.37064E-5
11-107375728-G-A p.Arg551* stop_gained ALKBH8 1 82732 1.20872E-5 41366 0 4.51753E-5
11-107375735-C-T p.Met548Ile missense ALKBH8 1 82744 1.20855E-5 41372 0 6.35623E-6
11-107375736-A-G p.Met548Thr missense ALKBH8 1 82744 1.20855E-5 41372 0 6.35316E-6
11-107375737-T-C p.Met548Val missense ALKBH8 1 82742 1.20858E-5 41371 0 1.2707E-5
11-107375742-C-T p.Arg546His missense ALKBH8 2 82740 2.41721E-5 41370 0 NA
11-107375743-G-A p.Arg546Cys missense ALKBH8 1 82736 1.20866E-5 41368 0 6.35728E-6
11-107375769-A-G p.Val537Ala missense ALKBH8 2 82714 2.41797E-5 41357 0 NA
11-107375782-T-C p.Ser533Gly missense ALKBH8 5 82694 6.04639E-5 41347 0 NA
11-107375784-T-G p.Asn532Thr missense ALKBH8 1 82698 1.20922E-5 41349 0 0.00125
11-107375788-TCTC-T p.Glu530del conservative_inframe_deletion ALKBH8 6 82680 7.25689E-5 41340 0 NA
11-107375789-C-T p.Glu530Glu synonymous ALKBH8 5 82684 6.04712E-5 41342 0 0.0025
11-107375799-T-C p.Lys527Arg missense ALKBH8 37 82664 4.47595E-4 41332 1 0.00244499
11-107375827-G-A p.Leu518Phe missense ALKBH8 16 82540 1.93845E-4 41270 0 8.6064E-4
11-107375832-T-C p.Lys516Arg missense ALKBH8 2 82528 2.42342E-5 41264 0 3.84192E-5
11-107375841-T-C p.Gln513Arg missense ALKBH8 2 82478 2.42489E-5 41239 0 4.62064E-5
11-107375857-G-T p.Gln508Lys missense ALKBH8 3 82378 3.64175E-5 41189 0 0.00236407
11-107375864-T-C p.Ala505Ala synonymous ALKBH8 4 82334 4.85826E-5 41167 0 3.18613E-5
11-107375868-C-A p.Trp504Leu missense ALKBH8 1 82334 1.21457E-5 41167 0 6.4096E-6
11-107375871-A-T p.Val503Asp missense ALKBH8 1 82326 1.21468E-5 41163 0 NA
11-107375885-C-T p.Lys498Lys synonymous ALKBH8 3 82294 3.64547E-5 41147 0 1.28394E-5
11-107375893-C-G p.Gly496Arg missense ALKBH8 8 82298 9.72077E-5 41149 0 1.0012E-4
11-107375903-G-A p.Leu492Leu synonymous ALKBH8 6 82252 7.29466E-5 41126 0 5.27426E-5
11-107375904-A-T p.Leu492His missense ALKBH8 2 82250 2.43161E-5 41125 0 3.18573E-5
11-107375909-A-T p.Val490Val synonymous ALKBH8 1 82188 1.21672E-5 41094 0 6.50643E-6
11-107375925-G-C p.Ala485Gly missense ALKBH8 4 81922 4.88269E-5 40961 0 0.00591017
11-107375927-T-C p.Ala484Ala synonymous ALKBH8 1 82134 1.21752E-5 41067 0 NA
11-107375933-T-G p.Arg482Ser missense ALKBH8 1 82082 1.21829E-5 41041 0 7.01311E-6
11-107375933-T-C p.Arg482Arg synonymous ALKBH8 5 82082 6.09147E-5 41041 0 NA
11-107375937-C-T p.Arg481His missense ALKBH8 29 82008 3.53624E-4 41004 0 0.00236407
11-107375938-G-A p.Arg481Cys missense ALKBH8 1 81972 1.21993E-5 40986 0 3.19224E-5
11-107375939-C-T p.Glu480Glu splice_region+synonymous ALKBH8 3 81964 3.66014E-5 40982 0 7.8456E-5
11-107375941-C-A p.Glu480* stop_gained ALKBH8 1 81878 1.22133E-5 40939 0 NA
11-107375947-G-GA c.*243-7_*243-6insT splice_region ALKBH8 7 81586 8.5799E-5 40793 0 2.80321E-4
11-107381618-T-C p.Thr478Ala missense ALKBH8 98 82294 0.00119085 41147 1 0.00566807
11-107381628-A-G p.His474His synonymous ALKBH8 2 82338 2.42901E-5 41169 0 9.55171E-5
11-107381630-G-T p.His474Asn missense ALKBH8 238 82348 0.00289017 41174 1 0.00356711
11-107381650-C-G p.Cys467Ser missense ALKBH8 40 82424 4.85296E-4 41212 2 0.00152837
11-107381650-C-T p.Cys467Tyr missense ALKBH8 1 82424 1.21324E-5 41212 0 NA
11-107381654-C-T p.Ala466Thr missense ALKBH8 1 82418 1.21333E-5 41209 0 NA
11-107381664-C-T p.Gly462Gly synonymous ALKBH8 3 82456 3.6383E-5 41228 0 0.00191606
11-107381665-C-T p.Gly462Glu missense ALKBH8 1 82458 1.21274E-5 41229 0 NA
11-107381671-C-T p.Arg460His missense ALKBH8 1 82486 1.21233E-5 41243 0 3.18451E-5
11-107381672-G-A p.Arg460Cys missense ALKBH8 3 82498 3.63645E-5 41249 0 4.53762E-5
11-107381679-T-C p.Val457Val synonymous ALKBH8 1 82528 1.21171E-5 41264 0 NA
11-107381682-T-C p.Ala456Ala synonymous ALKBH8 1 82548 1.21142E-5 41274 0 NA
11-107381715-CCT-C p.Arg445fs frameshift ALKBH8 1 82608 1.21054E-5 41304 0 NA
11-107381717-T-A p.Arg445Trp missense ALKBH8 10 82600 1.21065E-4 41300 0 8.86031E-5
11-107381738-G-T p.Leu438Ile missense ALKBH8 2 82578 2.42195E-5 41289 0 NA
11-107381750-G-A p.Arg434Cys missense ALKBH8 1 82530 1.21168E-5 41265 0 6.33706E-6
11-107381765-G-A c.1288-3C>T splice_region ALKBH8 38120 79740 0.478054 39870 9235 0.478632
11-107393016-A-AT c.1287+8_1287+9insA splice_region ALKBH8 1 81430 1.22805E-5 40715 0 NA
11-107393017-T-C c.1287+8A>G splice_region ALKBH8 1 81450 1.22775E-5 40725 0 NA
11-107393020-C-T c.1287+5G>A splice_region ALKBH8 1 81528 1.22657E-5 40764 0 NA
11-107393043-G-T p.Ile423Ile synonymous ALKBH8 1 81930 1.22055E-5 40965 0 NA
11-107393050-A-T p.Leu421His missense ALKBH8 1 82040 1.21892E-5 41020 0 NA
11-107393055-C-G p.Lys419Asn missense ALKBH8 1 82096 1.21809E-5 41048 0 NA
11-107393058-T-G p.Gly418Gly synonymous ALKBH8 3 82142 3.65221E-5 41071 0 NA
11-107393074-A-G p.Ile413Thr missense ALKBH8 11 82248 1.33742E-4 41124 0 8.28553E-4
11-107393105-C-G p.Ala403Pro missense ALKBH8 7 82408 8.49432E-5 41204 0 2.23072E-4
11-107393128-G-A p.Pro395Leu missense ALKBH8 2 82432 2.42624E-5 41216 0 4.55789E-5
11-107393133-A-G p.Pro393Pro synonymous ALKBH8 1 82428 1.21318E-5 41214 0 NA
11-107393139-A-G p.His391His synonymous ALKBH8 1 82432 1.21312E-5 41216 0 NA
11-107393142-T-C p.Arg390Arg synonymous ALKBH8 1 82430 1.21315E-5 41215 0 NA
11-107393154-G-A p.Phe386Phe synonymous ALKBH8 13 82402 1.57763E-4 41201 0 2.27355E-4
11-107393161-C-T p.Gly384Glu missense ALKBH8 1 82382 1.21386E-5 41191 0 1.90879E-5
11-107393168-T-C p.Ile382Val missense ALKBH8 1 82366 1.21409E-5 41183 0 6.25E-4
11-107393172-T-C p.Glu380Glu synonymous ALKBH8 1 82350 1.21433E-5 41175 0 9.09422E-5
11-107393176-T-C p.Tyr379Cys missense ALKBH8 1 82362 1.21415E-5 41181 0 3.18512E-5
11-107393181-C-G p.Gln377His missense ALKBH8 1 82360 1.21418E-5 41180 0 4.55249E-5
11-107393189-C-T p.Val375Ile missense ALKBH8 2 82328 2.42931E-5 41164 0 NA
11-107393191-T-A p.Tyr374Phe missense ALKBH8 1 82310 1.21492E-5 41155 0 6.36862E-5
11-107393191-T-C p.Tyr374Cys missense ALKBH8 2 82310 2.42984E-5 41155 0 9.13159E-5
11-107393208-T-A p.Ser368Ser synonymous ALKBH8 6 82304 7.29005E-5 41152 0 3.66972E-4
11-107393222-C-T p.Asp364Asn missense ALKBH8 1 82328 1.21465E-5 41164 0 NA
11-107393228-C-T p.Glu362Lys missense ALKBH8 2 82308 2.4299E-5 41154 0 NA
11-107393234-A-G p.Phe360Leu missense ALKBH8 1 82294 1.21516E-5 41147 0 4.62535E-5
11-107393241-G-T p.Pro357Pro synonymous ALKBH8 1 82272 1.21548E-5 41136 0 NA
11-107393243-G-C p.Pro357Ala missense ALKBH8 2 82266 2.43114E-5 41133 0 NA
11-107393268-G-A p.Val348Val synonymous ALKBH8 16 82152 1.94761E-4 41076 1 3.828E-4
11-107393274-C-T p.Pro346Pro synonymous ALKBH8 9 82112 1.09606E-4 41056 0 1.27689E-4
11-107393274-C-A p.Pro346Pro synonymous ALKBH8 1 82112 1.21785E-5 41056 0 4.82021E-5
11-107393275-G-C p.Pro346Arg missense ALKBH8 1 82100 1.21803E-5 41050 0 NA
11-107393275-G-A p.Pro346Leu missense ALKBH8 1 82100 1.21803E-5 41050 0 1.28771E-5
11-107393281-C-CTACAGTTACAAGGTGTTTGCCTCA c.1031-1_1031insTGAGGCAAACACCTTGTAACTGTA splice_acceptor ALKBH8 2 82056 2.43736E-5 41028 1 NA
11-107393281-C-T p.Ser344Asn missense+splice_region ALKBH8 2 82056 2.43736E-5 41028 0 6.38733E-5
11-107393287-T-C c.1031-6A>G splice_region ALKBH8 1 81948 1.22029E-5 40974 0 6.52477E-6
11-107396167-T-C p.Ser344Gly missense+splice_region ALKBH8 1 82266 1.21557E-5 41133 0 6.65522E-6
11-107396172-T-C p.Asn342Ser missense ALKBH8 72 82266 8.7521E-4 41133 0 0.00175204
11-107396177-A-AG p.Cys341fs frameshift ALKBH8 1 82296 1.21513E-5 41148 0 NA
11-107396196-C-G p.Arg334Thr missense ALKBH8 2 82350 2.42866E-5 41175 0 6.62296E-6
11-107396200-A-G p.Phe333Leu missense ALKBH8 1 82346 1.21439E-5 41173 0 1.32804E-5
11-107396232-A-G p.Leu322Ser missense ALKBH8 3 82280 3.64609E-5 41140 0 NA
11-107396235-G-T p.Thr321Asn missense ALKBH8 1 82276 1.21542E-5 41138 0 NA
11-107396247-A-G p.Val317Ala missense ALKBH8 1 82216 1.21631E-5 41108 0 6.98792E-6
11-107396256-G-A p.Thr314Ile missense ALKBH8 2 82176 2.4338E-5 41088 0 NA
11-107396285-T-C p.Ala304Ala synonymous ALKBH8 1 81970 1.21996E-5 40985 0 1.84488E-5
11-107396289-T-C p.Gln303Arg missense ALKBH8 6 81884 7.32744E-5 40942 0 1.27429E-4
11-107396298-T-C p.Asp300Gly missense ALKBH8 5 80882 6.18184E-5 40441 0 0.00126263
11-107396309-G-A p.Cys296Cys synonymous ALKBH8 2 79098 2.52851E-5 39549 0 7.05916E-5
11-107396311-A-C p.Cys296Gly missense ALKBH8 154 79350 0.00194077 39675 0 0.00886076
11-107396312-C-T p.Thr295Thr synonymous ALKBH8 1 78730 1.27016E-5 39365 0 NA
11-107396313-G-A p.Thr295Met missense ALKBH8 3 78862 3.80411E-5 39431 0 3.18939E-5
11-107396323-A-T c.*91-5T>A splice_region ALKBH8 3 78542 3.81961E-5 39271 0 9.55901E-5
11-107403018-A-G c.*90+8T>C splice_region ALKBH8 1 82668 1.20966E-5 41334 0 4.02541E-6
11-107403023-T-C c.*90+3A>G splice_region ALKBH8 6 82698 7.25531E-5 41349 0 3.18634E-5
11-107403026-C-T p.Gly293Glu missense+splice_region ALKBH8 1 82754 1.2084E-5 41377 0 1.73232E-5
11-107403029-T-C p.His292Arg missense ALKBH8 1 82790 1.20788E-5 41395 0 6.25E-4
11-107403034-C-A p.Trp290Cys missense ALKBH8 2 82832 2.41453E-5 41416 0 3.37918E-5
11-107403037-A-G p.Leu289Leu synonymous ALKBH8 1 82848 1.20703E-5 41424 0 NA
11-107403060-T-A p.Met282Leu missense ALKBH8 2 82888 2.41289E-5 41444 0 3.18471E-5
11-107403074-C-T p.Arg277Gln missense ALKBH8 14 82872 1.68935E-4 41436 0 1.19562E-4
11-107403075-G-A p.Arg277Trp missense ALKBH8 15 82850 1.8105E-4 41425 0 9.16714E-5
11-107403077-C-T p.Arg276His missense ALKBH8 11 82850 1.3277E-4 41425 0 2.39156E-5
11-107403077-C-A p.Arg276Leu missense ALKBH8 8 82852 9.65577E-5 41426 0 1.91131E-4
11-107403087-T-C p.Met273Val missense ALKBH8 2 82774 2.41622E-5 41387 0 3.18593E-5
11-107403100-A-G p.Ile268Ile synonymous ALKBH8 3 82660 3.62932E-5 41330 0 6.25E-4
11-107403108-C-G p.Asp266His missense ALKBH8 1 82622 1.21033E-5 41311 0 NA
11-107403112-G-C p.His264Gln missense ALKBH8 2 82550 2.42277E-5 41275 1 NA
11-107403126-T-G p.His236Pro missense ALKBH8 1 82398 1.21362E-5 41199 0 9.55536E-5
11-107403132-T-C p.Asp234Gly missense+splice_region ALKBH8 1 82330 1.21462E-5 41165 0 6.37267E-5
11-107403133-C-T c.701-1G>A splice_acceptor ALKBH8 1 82326 1.21468E-5 41163 0 8.29146E-6
11-107420473-A-G c.771+6T>C splice_region ALKBH8 2 81614 2.45056E-5 40807 0 6.41075E-6
11-107420481-C-G p.Glu257Gln missense+splice_region ALKBH8 1 81770 1.22294E-5 40885 0 6.40566E-6
11-107420484-A-AC p.Ser256fs frameshift ALKBH8 1 81786 1.2227E-5 40893 0 NA
11-107420489-A-G p.Leu254Ser missense ALKBH8 1 81814 1.22228E-5 40907 0 NA
11-107420502-C-T p.Val250Ile missense ALKBH8 1 81872 1.22142E-5 40936 0 4.6134E-5
11-107420503-G-A p.Ile249Ile synonymous ALKBH8 1 81850 1.22175E-5 40925 0 3.18532E-5
11-107420521-G-A p.Ser243Ser synonymous ALKBH8 3 81862 3.6647E-5 40931 0 1.28355E-5
11-107420528-G-A p.Thr241Ile missense ALKBH8 3 81878 3.66399E-5 40939 0 NA
11-107420530-A-G p.Asp240Asp synonymous ALKBH8 64583 81158 0.795769 40579 26102 0.83
11-107420542-G-A p.Pro236Pro synonymous ALKBH8 10 81734 1.22348E-4 40867 0 2.23015E-4
11-107422531-C-T c.700+3G>A splice_region ALKBH8 1 80504 1.24217E-5 40252 0 1.31529E-4
11-107422535-T-G p.Gln233His missense+splice_region ALKBH8 520 80678 0.00644538 40339 9 0.0151668
11-107422535-T-C p.Gln233Gln splice_region+synonymous ALKBH8 1 80710 1.239E-5 40355 0 NA
11-107422538-C-T p.Gly232Gly synonymous ALKBH8 1 80812 1.23744E-5 40406 0 3.22393E-5
11-107422550-C-G p.Gln228His missense ALKBH8 1 81188 1.23171E-5 40594 0 NA
11-107422558-T-C p.Ile226Val missense ALKBH8 1 81424 1.22814E-5 40712 0 8.60141E-6
11-107422573-G-A p.Pro221Ser missense ALKBH8 1 81666 1.2245E-5 40833 0 NA
11-107422585-T-C p.Ile217Val missense ALKBH8 1 81718 1.22372E-5 40859 0 8.4518E-6
11-107422592-T-C p.Lys214Lys splice_region+synonymous ALKBH8 2 81610 2.45068E-5 40805 0 3.21213E-5
11-107422617-C-A p.Ser206Ile missense ALKBH8 3 80618 3.72125E-5 40309 0 5.13435E-5
11-107422623-C-T p.Cys204Tyr missense ALKBH8 1 80144 1.24775E-5 40072 0 NA
11-107422630-C-T p.Asp202Asn missense ALKBH8 16 79994 2.00015E-4 39997 0 0.00151057
11-107422633-G-C p.Pro201Ala missense ALKBH8 1 79430 1.25897E-5 39715 0 NA
11-107422643-A-G c.596-5T>C splice_region ALKBH8 1 78408 1.27538E-5 39204 0 NA
11-107423829-C-T c.595+5G>A splice_region ALKBH8 7 80644 8.68013E-5 40322 0 1.59266E-4
11-107423857-T-C p.Asp191Gly missense ALKBH8 1 81692 1.22411E-5 40846 0 1.65363E-4
11-107423863-T-C p.Asn189Ser missense ALKBH8 2 81812 2.44463E-5 40906 0 1.25798E-4
11-107423873-C-T p.Glu186Lys missense ALKBH8 1 81908 1.22088E-5 40954 0 NA
11-107423875-T-TTTTACTGAATGATCC p.Tyr185delinsTrpIleIleGlnTerAsn stop_gained ALKBH8 1 81876 1.22136E-5 40938 0 NA
11-107423878-T-A p.His184Leu missense ALKBH8 1 81936 1.22046E-5 40968 0 3.18532E-5
11-107423880-G-A p.Phe183Phe synonymous ALKBH8 4 81930 4.88222E-5 40965 0 3.18776E-5
11-107423881-A-G p.Phe183Ser missense ALKBH8 1 81936 1.22046E-5 40968 0 2.47836E-5
11-107423884-T-G p.Glu182Ala missense ALKBH8 10 81952 1.22023E-4 40976 0 1.9118E-4
11-107423898-C-T p.Lys177Lys synonymous ALKBH8 1 81904 1.22094E-5 40952 0 8.26665E-6
11-107423911-T-G p.His173Pro missense ALKBH8 2 81792 2.44523E-5 40896 0 4.1364E-5
11-107423920-G-C p.Ser170Cys missense ALKBH8 1 81576 1.22585E-5 40788 0 8.28514E-6
11-107423922-T-C p.Lys169Lys synonymous ALKBH8 2 81506 2.45381E-5 40753 0 NA
11-107424569-T-C c.499+4A>G splice_region ALKBH8 4 82086 4.87294E-5 41043 0 4.92987E-5
11-107424572-C-T c.499+1G>A splice_donor ALKBH8 1 82118 1.21776E-5 41059 0 NA
11-107424590-T-A p.Asp161Val missense ALKBH8 2 82740 2.41721E-5 41370 0 8.0032E-6
11-107424605-A-C p.Val156Gly missense ALKBH8 2 82950 2.41109E-5 41475 0 3.98848E-6
11-107424613-C-T p.Leu153Leu synonymous ALKBH8 108 82994 0.0013013 41497 0 0.00755287
11-107424615-A-G p.Leu153Leu synonymous ALKBH8 1 83022 1.2045E-5 41511 0 3.18933E-5
11-107424618-G-C p.Leu152Val missense ALKBH8 1 83028 1.20441E-5 41514 0 NA
11-107424631-CTC-AGA p.Ter145Phe???ext*? stop_lost ALKBH8 3 83032 3.61306E-5 41516 0 NA
11-107424633-C-T p.Glu147Lys missense ALKBH8 1 83042 1.20421E-5 41521 0 NA
11-107424635-G-A p.Ser146Phe missense ALKBH8 38 83034 4.57644E-4 41517 0 8.08332E-4
11-107424635-G-C p.Ser146Cys missense ALKBH8 2 83034 2.40865E-5 41517 0 3.58757E-5
11-107424638-GA-TT p.Phe143* stop_gained ALKBH8 3 83038 3.6128E-5 41519 0 NA
11-107424644-AT-A p.Ile143fs frameshift ALKBH8 2 83042 2.40842E-5 41521 0 3.98489E-6
11-107424653-A-G p.Val140Ala missense ALKBH8 1 83040 1.20424E-5 41520 0 6.25E-4
11-107424661-G-A p.His136Tyr missense ALKBH8 6 83046 7.22491E-5 41523 0 5.03525E-4
11-107424667-T-C p.Arg134Gly missense ALKBH8 1 83022 1.2045E-5 41511 0 3.18512E-5
11-107424670-T-C p.Thr133Ala missense ALKBH8 3 83016 3.61376E-5 41508 0 3.18512E-5
11-107424677-G-A p.Ala132Val missense ALKBH8 1 82988 1.20499E-5 41494 0 8.39631E-6
11-107424685-C-T p.Ala128Thr missense ALKBH8 263 82976 0.00316959 41488 6 0.0115811
11-107424700-C-T c.368-1G>A splice_acceptor ALKBH8 1 82960 1.2054E-5 41480 0 6.74821E-5
11-107424704-A-C p.Val123Gly missense+splice_region ALKBH8 1 82934 1.20578E-5 41467 0 NA
11-107424709-G-A c.368-5C>T splice_region ALKBH8 471 82882 0.00568278 41441 3 0.00971957
11-107424711-G-A c.368-7C>T splice_region ALKBH8 4 82876 4.82649E-5 41438 0 6.37146E-5
11-107427484-G-A c.367+8C>T splice_region ALKBH8 1 76118 1.31375E-5 38059 0 NA
11-107427512-TACA-T p.Leu115_Tyr116delinsHis disruptive_inframe_deletion ALKBH8 4 77700 5.14801E-5 38850 0 6.2905E-6
11-107427513-A-G p.Tyr116His missense ALKBH8 1 77720 1.28667E-5 38860 0 NA
11-107427514-C-G p.Leu115Leu synonymous ALKBH8 15 77682 1.93095E-4 38841 0 1.59236E-4
11-107427516-G-A p.Leu115Leu synonymous ALKBH8 1 77904 1.28363E-5 38952 0 3.18451E-5
11-107427517-A-G p.Thr114Thr synonymous ALKBH8 4 77878 5.13624E-5 38939 0 1.83468E-5
11-107427519-TGA-T p.Ile113fs frameshift ALKBH8 5 77870 6.42096E-5 38935 0 6.10009E-6
11-107427522-TCTTTTGTCCTAAATCATCCACTACTTCTTTTCCATTGAG-T p.Leu100_Lys112del conservative_inframe_deletion ALKBH8 2 78006 2.56391E-5 39003 0 5.9848E-6
11-107427527-T-A p.Gln111Leu missense ALKBH8 1 78236 1.27818E-5 39118 0 NA
11-107427541-C-T p.Val106Val synonymous ALKBH8 31 79764 3.88646E-4 39882 0 5.03525E-4
11-107427543-C-T p.Val106Met missense ALKBH8 84 79808 0.00105253 39904 0 0.00209254
11-107427545-A-C p.Val105Gly missense ALKBH8 5 80112 6.24126E-5 40056 0 3.82166E-4
11-107427545-A-G p.Val105Ala missense ALKBH8 2 80112 2.4965E-5 40056 0 8.58413E-6
11-107427547-T-A p.Glu104Asp missense ALKBH8 2 80596 2.48151E-5 40298 0 9.5511E-5
11-107427557-T-C p.Asn101Ser missense ALKBH8 1 81530 1.22654E-5 40765 0 3.38198E-5
11-107427559-G-C p.Leu100Leu synonymous ALKBH8 1 81618 1.22522E-5 40809 0 1.68535E-5
11-107427572-G-T p.Ala96Asp missense ALKBH8 1 82212 1.21637E-5 41106 0 4.34881E-6
11-107427572-G-C p.Ala96Gly missense ALKBH8 3 82212 3.6491E-5 41106 0 6.37105E-5
11-107427575-C-T p.Arg95Lys missense ALKBH8 1 82510 1.21197E-5 41255 0 1.27413E-4
11-107427581-G-A p.Ser93Phe missense ALKBH8 10 82582 1.21092E-4 41291 0 0.00302115
11-107427589-T-C p.Thr90Thr synonymous ALKBH8 17 82674 2.05627E-4 41337 2 1.27364E-4
11-107427591-T-C p.Thr90Ala missense ALKBH8 1 82690 1.20934E-5 41345 0 NA
11-107427598-G-A p.Tyr87Tyr synonymous ALKBH8 1 82800 1.20773E-5 41400 0 NA
11-107427600-A-G p.Tyr87His missense ALKBH8 3 82818 3.6224E-5 41409 0 3.18674E-5
11-107427616-C-G p.Pro81Pro synonymous ALKBH8 3719 82800 0.0449155 41400 423 0.0913382
11-107427616-C-T p.Pro81Pro synonymous ALKBH8 1 82852 1.20697E-5 41426 0 4.94454E-5
11-107427617-G-A p.Pro81Leu missense ALKBH8 1 82872 1.20668E-5 41436 0 3.2963E-5
11-107427622-G-C p.Asn79Lys missense ALKBH8 260 82664 0.00314526 41332 6 0.00667902
11-107427626-G-T p.Pro78His missense ALKBH8 1 82630 1.21021E-5 41315 0 NA
11-107427634-TAAG-T p.Leu75del disruptive_inframe_deletion ALKBH8 2 82736 2.41733E-5 41368 0 5.76777E-5
11-107427644-T-C p.Asp72Gly missense ALKBH8 12 82716 1.45075E-4 41358 0 1.2379E-4
11-107427668-A-C p.Val64Gly missense ALKBH8 2 82620 2.42072E-5 41310 0 NA
11-107427669-C-G p.Val64Leu missense ALKBH8 1 82580 1.21095E-5 41290 0 3.18857E-5
11-107427670-C-T p.Pro63Pro synonymous ALKBH8 4 82560 4.84496E-5 41280 0 4.01387E-6
11-107427671-G-A p.Pro63Leu missense ALKBH8 1 82544 1.21148E-5 41272 0 2.47304E-5
11-107427673-G-A p.Leu62Leu synonymous ALKBH8 5 82550 6.05694E-5 41275 0 0.001875
11-107427676-C-G p.Leu61Leu synonymous ALKBH8 17 82542 2.05956E-4 41271 0 8.82212E-4
11-107427687-G-A p.Arg58Trp missense ALKBH8 26 82396 3.15549E-4 41198 0 8.92857E-4
11-107427687-G-T p.Arg58Arg synonymous ALKBH8 1 82396 1.21365E-5 41198 0 NA
11-107427693-C-T p.Val56Met missense ALKBH8 1 82428 1.21318E-5 41214 0 8.26556E-6
11-107427695-C-T p.Gly55Asp missense ALKBH8 1 82452 1.21283E-5 41226 0 NA
11-107427697-A-G p.Asn54Asn synonymous ALKBH8 2 82394 2.42736E-5 41197 0 NA
11-107427705-A-G p.Leu52Leu synonymous ALKBH8 4 82154 4.8689E-5 41077 0 NA
11-107427713-T-C p.Asn49Ser missense ALKBH8 145 81924 0.00176993 40962 0 0.00353819
11-107427727-G-C p.Ser44Arg missense+splice_region ALKBH8 5 81262 6.15294E-5 40631 0 8.39363E-5
11-107427731-T-TGAGTGGCA c.130-3_130-2insTGCCACTC splice_region ALKBH8 7 80952 8.6471E-5 40476 3 NA
11-107427735-A-AAAAC c.130-7_130-6insGTTT splice_region ALKBH8 1 80968 1.23506E-5 40484 0 1.69288E-5
11-107427735-AAAAC-A c.130-10_130-7delGTTT splice_region ALKBH8 2 80948 2.47072E-5 40474 0 1.75896E-4
11-107427737-A-G c.130-8T>C splice_region ALKBH8 254 80694 0.00314769 40347 6 0.00662758
11-107431514-C-T p.Glu36Lys missense ALKBH8 2 82852 2.41394E-5 41426 0 7.97512E-5
11-107431517-T-C p.Ile35Val missense ALKBH8 3 82844 3.62126E-5 41422 0 1.27397E-4
11-107431536-A-G p.Thr28Thr synonymous ALKBH8 7 82928 8.44106E-5 41464 0 1.27413E-4
11-107431538-T-C p.Thr28Ala missense ALKBH8 1 82940 1.20569E-5 41470 0 NA
11-107431568-ACTT-A p.Lys17del conservative_inframe_deletion ALKBH8 3 82958 3.61629E-5 41479 0 3.31868E-5
11-107431579-G-C p.Thr14Ser missense ALKBH8 3 82910 3.61838E-5 41455 0 6.38814E-5
11-107431587-G-A p.Leu11Leu synonymous ALKBH8 1 82888 1.20645E-5 41444 0 8.30855E-6
11-107431594-T-A p.Tyr9Phe missense ALKBH8 1 82864 1.2068E-5 41432 0 2.49352E-5
11-107431614-G-A p.Asp2Asp synonymous ALKBH8 1 82730 1.20875E-5 41365 0 6.38529E-5
11-107431618-A-G p.Met1? start_lost ALKBH8 2 82732 2.41744E-5 41366 0 3.18796E-4
11-107431622-C-G p.Ala3Pro missense ALKBH8 1 82706 1.2091E-5 41353 0 NA
11-107431629-T-TA c.-6-5_-6-4insT splice_region ALKBH8 8 82448 9.70309E-5 41224 0 0.00118901
11-107431629-TA-T c.-6-5delT splice_region ALKBH8 1 82524 1.21177E-5 41262 0 NA
11-107435943-G-A c.-367-3C>T splice_region ALKBH8 4 1454 0.00275103 727 0 4.45917E-4
11-107436326-C-A c.-7+1G>T splice_donor ALKBH8 1 37726 2.65069E-5 18863 0 NA
11-107436329-C-G c.-9G>C splice_region ALKBH8 3 37748 7.94744E-5 18874 0 1.98579E-4
11-107436401-G-C c.-81C>G 5_prime_UTR_premature_start_codon_gain ALKBH8 1 37734 2.65013E-5 18867 0 7.6379E-6
11-107436443-G-A c.-123C>T 5_prime_UTR_premature_start_codon_gain ALKBH8 1 37492 2.66724E-5 18746 0 3.18593E-5
11-107436455-G-C c.-135C>G 5_prime_UTR_premature_start_codon_gain ALKBH8 103 37378 0.00275563 18689 1 0.00652908
11-107436461-T-A c.-103A>T 5_prime_UTR_premature_start_codon_gain ALKBH8 13 37278 3.48731E-4 18639 0 6.36983E-4