Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-109526019-T-C p.Lys260Glu missense ALKBH2 5 83132 6.01453E-5 41566 0 8.34126E-6
12-109526034-T-C p.Lys255Glu missense ALKBH2 1 83238 1.20137E-5 41619 0 NA
12-109526036-C-T p.Arg254His missense ALKBH2 7 83250 8.40841E-5 41625 0 NA
12-109526037-G-A p.Arg254Cys missense ALKBH2 3 83268 3.60282E-5 41634 0 5.92583E-5
12-109526044-C-T p.Leu251Leu synonymous ALKBH2 2 83300 2.40096E-5 41650 0 6.36943E-5
12-109526044-C-G p.Leu251Leu synonymous ALKBH2 2 83300 2.40096E-5 41650 0 1.66761E-5
12-109526045-A-G p.Leu251Pro missense ALKBH2 1 83318 1.20022E-5 41659 0 6.36618E-5
12-109526055-G-T p.Arg248Arg synonymous ALKBH2 1 83348 1.19979E-5 41674 0 3.82117E-4
12-109526055-G-A p.Arg248Trp missense ALKBH2 2 83348 2.39958E-5 41674 0 5.03525E-4
12-109526058-G-C p.Pro247Ala missense ALKBH2 1 83346 1.19982E-5 41673 0 8.30055E-6
12-109526067-C-T p.Val244Ile missense ALKBH2 55 83366 6.59741E-4 41683 1 5.21765E-4
12-109526067-C-G p.Val244Leu missense ALKBH2 3 83368 3.5985E-5 41684 0 1.19607E-5
12-109526079-C-T p.Val240Met missense ALKBH2 2 83366 2.39906E-5 41683 0 3.98267E-6
12-109526084-A-G p.Leu238Pro missense ALKBH2 2 83364 2.39912E-5 41682 0 NA
12-109526085-G-A p.Leu238Phe missense ALKBH2 1 83358 1.19964E-5 41679 0 3.97972E-6
12-109526098-G-A p.His233His synonymous ALKBH2 60 83352 7.19839E-4 41676 0 0.00352467
12-109526101-C-T p.Thr232Thr synonymous ALKBH2 3 83348 3.59937E-5 41674 0 2.22887E-4
12-109526102-G-A p.Thr232Met missense ALKBH2 5 83354 5.99851E-5 41677 0 6.3674E-5
12-109526111-G-A p.Pro229Leu missense ALKBH2 1 83344 1.19985E-5 41672 0 3.18613E-5
12-109526112-G-C p.Pro229Ala missense ALKBH2 3 83342 3.59963E-5 41671 0 1.91119E-4
12-109526128-T-C p.Tyr157Cys missense ALKBH2 1 83328 1.20008E-5 41664 0 NA
12-109526134-C-T p.Gly155Glu missense ALKBH2 4 83312 4.80123E-5 41656 0 1.6484E-5
12-109526137-G-T p.His220Gln missense ALKBH2 3 83308 3.60109E-5 41654 0 2.14277E-4
12-109526137-G-A p.Thr154Met missense ALKBH2 11 83308 1.3204E-4 41654 0 2.86917E-4
12-109526146-C-T p.Arg151His missense ALKBH2 1 83280 1.20077E-5 41640 0 3.18674E-5
12-109526152-C-G p.Arg215Ser missense ALKBH2 3 83274 3.60256E-5 41637 0 6.37105E-5
12-109526161-C-T p.Arg146Gln missense ALKBH2 2 83288 2.40131E-5 41644 0 3.18695E-5
12-109526162-G-A p.Ala212Val missense ALKBH2 1 83278 1.2008E-5 41639 0 9.56267E-5
12-109526189-C-T p.Arg203His missense ALKBH2 1057 83314 0.0126869 41657 14 0.0225
12-109526190-G-A p.Arg203Cys missense ALKBH2 1 83322 1.20016E-5 41661 0 5.03525E-4
12-109526195-T-C p.Asp201Gly missense ALKBH2 1 83332 1.20002E-5 41666 0 8.24022E-6
12-109526199-T-C p.Lys200Glu missense ALKBH2 1 83328 1.20008E-5 41664 0 NA
12-109526201-T-C p.His199Arg missense ALKBH2 4 83328 4.80031E-5 41664 0 6.37959E-5
12-109526204-C-T p.Arg198Gln missense ALKBH2 3 83328 3.60023E-5 41664 0 6.37999E-5
12-109526205-G-A p.Arg198Trp missense ALKBH2 1 83314 1.20028E-5 41657 0 6.25782E-4
12-109526230-G-A p.Ser123Leu missense ALKBH2 1 83296 1.20054E-5 41648 0 1.35228E-4
12-109526258-G-A p.Pro180Leu missense ALKBH2 4 83260 4.80423E-5 41630 0 NA
12-109526259-G-A p.Pro180Ser missense ALKBH2 4 83260 4.80423E-5 41630 0 1.91363E-4
12-109526262-C-A p.Ala179Ser missense ALKBH2 1 83262 1.20103E-5 41631 0 NA
12-109526269-T-C p.Glu110Gly missense ALKBH2 1 83258 1.20109E-5 41629 0 6.25E-4
12-109526283-G-A p.Arg172* stop_gained ALKBH2 2 83208 2.40361E-5 41604 0 2.50488E-5
12-109526293-G-A p.Ser102Leu missense ALKBH2 78 83168 9.37861E-4 41584 0 0.00178515
12-109526296-G-A p.Thr101Ile missense ALKBH2 1 83144 1.20273E-5 41572 0 NA
12-109526298-G-T p.His167Asn missense ALKBH2 1 83134 1.20288E-5 41567 0 NA
12-109526306-C-T p.Gly164Asp missense ALKBH2 1 83066 1.20386E-5 41533 0 1.23415E-5
12-109526310-C-CT p.Asp163fs frameshift ALKBH2 1 83006 1.20473E-5 41503 0 NA
12-109526320-G-GTTGATGAGCACAAAGTTGAAGGTCTGTCCAGT c.480-4_480-3insACTGGACAGACCTTCAACTTTGTGCTCATCAA splice_region ALKBH2 1 82806 1.20764E-5 41403 0 NA
12-109526321-C-T c.480-4G>A splice_region ALKBH2 309 82754 0.00373396 41377 0 0.004375
12-109526323-A-G c.480-6T>C splice_region ALKBH2 1 82760 1.20831E-5 41380 0 3.18735E-5
12-109527815-T-C p.Arg160Gly missense+splice_region ALKBH2 1 83252 1.20117E-5 41626 0 3.97807E-6
12-109527824-GCA-G p.Val156fs frameshift ALKBH2 1 83290 1.20062E-5 41645 0 3.18492E-5
12-109527851-C-A p.Val148Leu missense ALKBH2 1 83324 1.20013E-5 41662 0 NA
12-109527853-C-A p.Gly147Val missense ALKBH2 1 83324 1.20013E-5 41662 0 NA
12-109527860-C-T p.Val145Ile missense ALKBH2 1 83328 1.20008E-5 41664 0 2.47496E-5
12-109527868-C-T p.Arg142Gln missense ALKBH2 2 83330 2.4001E-5 41665 0 5.96535E-5
12-109527869-G-A p.Arg142Trp missense ALKBH2 2 83332 2.40004E-5 41666 0 3.18451E-5
12-109527872-T-C p.Ile141Val missense ALKBH2 1442 83302 0.0173105 41651 22 0.0220715
12-109527873-G-A p.Arg140Arg synonymous ALKBH2 2 83322 2.40033E-5 41661 0 NA
12-109527874-C-T p.Arg140His missense ALKBH2 6 83322 7.20098E-5 41661 0 1.64951E-5
12-109527875-G-A p.Arg140Cys missense ALKBH2 8 83322 9.60131E-5 41661 0 0.00100705
12-109527885-T-C p.Pro136Pro synonymous ALKBH2 2 83352 2.39946E-5 41676 0 NA
12-109527900-T-C p.Pro131Pro synonymous ALKBH2 1 83360 1.19962E-5 41680 0 8.24348E-6
12-109527901-G-C p.Pro131Arg missense ALKBH2 1 83358 1.19964E-5 41679 0 6.25E-4
12-109527910-G-A p.Thr128Met missense ALKBH2 80 83350 9.59808E-4 41675 2 0.0060423
12-109527913-A-G p.Leu127Pro missense ALKBH2 1 83344 1.19985E-5 41672 0 3.97643E-6
12-109527919-G-T p.Ser125* stop_gained ALKBH2 2 83348 2.39958E-5 41674 1 NA
12-109527924-T-G p.Thr123Thr synonymous ALKBH2 1 83350 1.19976E-5 41675 0 NA
12-109527937-C-G p.Gly119Ala missense ALKBH2 1 83354 1.1997E-5 41677 0 NA
12-109527940-G-C p.Ala118Gly missense ALKBH2 1 83342 1.19988E-5 41671 0 9.5584E-5
12-109527941-C-T p.Ala118Thr missense ALKBH2 8 83334 9.59992E-5 41667 0 5.03525E-4
12-109527942-G-A p.Asp117Asp synonymous ALKBH2 1395 83308 0.0167451 41654 58 0.0296537
12-109527944-C-T p.Asp117Asn missense ALKBH2 4 83330 4.80019E-5 41665 0 3.57893E-5
12-109527945-G-A p.Gly116Gly synonymous ALKBH2 3 83334 3.59997E-5 41667 0 7.95393E-5
12-109527951-C-T p.Thr114Thr synonymous ALKBH2 9 83346 1.07984E-4 41673 0 1.97827E-4
12-109527952-G-A p.Thr114Met missense ALKBH2 3 83334 3.59997E-5 41667 0 1.0716E-4
12-109527955-G-A p.Ala113Val missense ALKBH2 8 83330 9.60038E-5 41665 0 5.03525E-4
12-109527960-C-G p.Lys111Asn missense ALKBH2 2 83320 2.40038E-5 41660 0 8.24457E-6
12-109527974-T-G p.Ser107Arg missense ALKBH2 1 83280 1.20077E-5 41640 0 NA
12-109527986-C-T p.Gly103Arg missense ALKBH2 1 83212 1.20175E-5 41606 0 7.96058E-6
12-109527987-G-A p.Phe102Phe synonymous ALKBH2 2 83202 2.40379E-5 41601 0 8.36094E-5
12-109527997-A-G p.Val99Ala missense ALKBH2 1 83116 1.20314E-5 41558 0 3.19448E-5
12-109528007-G-A p.Leu96Leu synonymous ALKBH2 1 82984 1.20505E-5 41492 0 NA
12-109528014-T-C c.281-2A>G splice_acceptor ALKBH2 3 82824 3.62214E-5 41412 0 7.9968E-6
12-109528018-C-A c.281-6G>T splice_region ALKBH2 5620 82270 0.0683117 41135 186 0.07625
12-109528018-C-T c.281-6G>A splice_region ALKBH2 2 82694 2.41856E-5 41347 0 4.00843E-6
12-109530304-C-T c.280+8G>A splice_region ALKBH2 1 82004 1.21945E-5 41002 0 NA
12-109530312-C-G p.Gly94Arg missense+splice_region ALKBH2 1 82406 1.2135E-5 41203 0 3.64438E-5
12-109530315-T-G p.Thr93Pro missense ALKBH2 1 82550 1.21139E-5 41275 0 1.17867E-4
12-109530321-A-G p.Tyr91His missense ALKBH2 2 82738 2.41727E-5 41369 0 2.86402E-4
12-109530326-ACTT-A p.Glu88del disruptive_inframe_deletion ALKBH2 4 82794 4.83127E-5 41397 0 1.73157E-5
12-109530356-T-C p.Asp79Gly missense ALKBH2 1 83146 1.2027E-5 41573 0 3.18573E-5
12-109530366-C-T p.Ala76Thr missense ALKBH2 1 83226 1.20155E-5 41613 0 NA
12-109530377-AG-A p.Leu72fs frameshift ALKBH2 1 83278 1.2008E-5 41639 0 NA
12-109530378-G-A p.Leu72Leu synonymous ALKBH2 1 83278 1.2008E-5 41639 0 3.18451E-5
12-109530379-G-C p.Val71Val synonymous ALKBH2 1 83274 1.20085E-5 41637 0 NA
12-109530384-T-C p.Thr70Ala missense ALKBH2 1 83286 1.20068E-5 41643 0 3.98651E-6
12-109530386-T-C p.Tyr69Cys missense ALKBH2 2 83292 2.40119E-5 41646 0 9.55171E-5
12-109530390-T-G p.Ser68Arg missense ALKBH2 3 83300 3.60144E-5 41650 0 NA
12-109530405-C-T p.Glu63Lys missense ALKBH2 1 83310 1.20034E-5 41655 0 NA
12-109530409-C-G p.Arg61Arg synonymous ALKBH2 1 83314 1.20028E-5 41657 0 7.95843E-6
12-109530410-C-T p.Arg61Gln missense ALKBH2 1 83310 1.20034E-5 41655 0 3.1841E-5
12-109530411-G-A p.Arg61Trp missense ALKBH2 2 83320 2.40038E-5 41660 0 3.1835E-5
12-109530412-A-C p.Ile60Met missense ALKBH2 1 83308 1.20036E-5 41654 0 NA
12-109530417-G-C p.His59Asp missense ALKBH2 1 83322 1.20016E-5 41661 0 2.47317E-5
12-109530419-C-T p.Arg58Gln missense ALKBH2 4 83324 4.80054E-5 41662 0 1.19352E-5
12-109530420-G-A p.Arg58Trp missense ALKBH2 3 83326 3.60032E-5 41663 0 2.473E-5
12-109530423-A-C p.Trp57Gly missense ALKBH2 1 83334 1.19999E-5 41667 0 NA
12-109530429-G-A p.Pro55Ser missense ALKBH2 1 83336 1.19996E-5 41668 0 NA
12-109530435-C-A p.Ala53Ser missense ALKBH2 1 83334 1.19999E-5 41667 0 NA
12-109530443-C-T p.Gly50Asp missense ALKBH2 1 83342 1.19988E-5 41671 0 NA
12-109530449-T-C p.Asn48Ser missense ALKBH2 1 83356 1.19967E-5 41678 0 NA
12-109530456-G-A p.Pro46Ser missense ALKBH2 1 83356 1.19967E-5 41678 0 NA
12-109530458-G-A p.Ala45Val missense ALKBH2 1 83358 1.19964E-5 41679 0 NA
12-109530464-CTCCTGGGCCTCTT-C p.Lys39fs frameshift ALKBH2 1 83356 1.19967E-5 41678 0 NA
12-109530470-G-A p.Pro41Leu missense ALKBH2 80 83346 9.59854E-4 41673 0 0.0020141
12-109530475-C-T p.Lys39Lys synonymous ALKBH2 1 83342 1.19988E-5 41671 0 NA
12-109530476-T-C p.Lys39Arg missense ALKBH2 2 83340 2.39981E-5 41670 0 8.23845E-5
12-109530477-T-C p.Lys39Glu missense ALKBH2 4 83336 4.79985E-5 41668 0 8.23845E-6
12-109530479-C-A p.Arg38Met missense ALKBH2 1 83344 1.19985E-5 41672 0 NA
12-109530484-GCTTT-G p.Glu35fs frameshift ALKBH2 6 83342 7.19925E-5 41671 0 1.40058E-4
12-109530485-C-T p.Ser36Asn missense ALKBH2 1 83344 1.19985E-5 41672 0 3.97659E-6
12-109530486-T-C p.Ser36Gly missense ALKBH2 2 83338 2.39987E-5 41669 0 8.35056E-5
12-109530487-T-A p.Glu35Asp missense ALKBH2 1 83334 1.19999E-5 41667 0 3.97652E-6
12-109530493-G-C p.Asp33Glu missense ALKBH2 1 83322 1.20016E-5 41661 0 8.23995E-6
12-109530510-CTGGCTCTTCTCCAGT-C p.Thr23_Pro27del conservative_inframe_deletion ALKBH2 1 83260 1.20106E-5 41630 0 4.77224E-5
12-109530524-G-C p.Thr23Ser missense ALKBH2 1 83106 1.20328E-5 41553 0 NA
12-109530542-T-C p.Gln17Arg missense ALKBH2 2 82686 2.41879E-5 41343 0 7.96622E-6
12-109530550-CA-C p.Leu14fs frameshift ALKBH2 2 82178 2.43374E-5 41089 0 NA
12-109530556-G-A p.Gly12Gly synonymous ALKBH2 1 81694 1.22408E-5 40847 0 6.37592E-5
12-109530557-C-G p.Gly12Ala missense ALKBH2 1 81652 1.22471E-5 40826 0 NA
12-109530564-G-T p.Gln10Lys missense ALKBH2 2 80850 2.47372E-5 40425 0 1.27405E-4
12-109530572-T-G p.Lys7Thr missense ALKBH2 1 79854 1.25229E-5 39927 0 4.01526E-6
12-109530577-C-T p.Leu5Leu synonymous ALKBH2 1 79050 1.26502E-5 39525 0 NA
12-109530617-G-A c.-26C>T 5_prime_UTR_premature_start_codon_gain ALKBH2 1 71818 1.39241E-5 35909 0 1.75076E-5
12-109530626-G-A c.-35C>T 5_prime_UTR_premature_start_codon_gain ALKBH2 54 67996 7.94164E-4 33998 0 0.00167812
12-109530649-A-T c.-58T>A 5_prime_UTR_premature_start_codon_gain ALKBH2 1 60236 1.66014E-5 30118 0 NA
12-109530744-T-TCGCTGCCCCCCACCAGTGTTAAAATAGATC c.-151-3_-151-2insGATCTATTTTAACACTGGTGGGGGGCAGCG splice_region ALKBH2 1 36934 2.70753E-5 18467 0 NA
12-109530744-T-TCGCTGCCCCCCACC c.-151-3_-151-2insGGTGGGGGGCAGCG splice_region ALKBH2 1 36934 2.70753E-5 18467 0 NA
12-109530744-T-C c.-151-2A>G splice_acceptor ALKBH2 1 36934 2.70753E-5 18467 0 NA
12-109530772-G-A c.-181C>T 5_prime_UTR_premature_start_codon_gain ALKBH2 6 33896 1.77012E-4 16948 0 6.37024E-5
12-109530828-G-C c.-237C>G 5_prime_UTR_premature_start_codon_gain ALKBH2 1 26674 3.74897E-5 13337 0 NA