Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-90581889-A-T c.*809T>A splice_region ANKRD22 1 3086 3.24044E-4 1543 0 9.55536E-5
10-90581891-C-T c.*807G>A splice_region ANKRD22 31 3086 0.0100454 1543 0 0.0157905
10-90582719-T-G p.Leu185Phe missense ANKRD22 1 82852 1.20697E-5 41426 0 3.97728E-6
10-90582740-T-C p.Leu178Leu synonymous ANKRD22 1 82940 1.20569E-5 41470 0 3.97731E-6
10-90582744-C-A p.Arg177Ile missense ANKRD22 1133 82842 0.0136766 41421 45 0.0294343
10-90582748-G-A p.Arg176Trp missense ANKRD22 1 82852 1.20697E-5 41426 0 3.18878E-5
10-90582750-G-A p.Ala175Val missense ANKRD22 1 82960 1.2054E-5 41480 0 3.30115E-5
10-90582767-C-A p.Glu169Asp missense ANKRD22 6 82942 7.23397E-5 41471 0 1.59307E-4
10-90582769-C-T p.Glu169Lys missense ANKRD22 1 82930 1.20584E-5 41465 0 NA
10-90582774-T-C p.His167Arg missense+splice_region ANKRD22 3 82874 3.61995E-5 41437 0 8.26515E-6
10-90582783-G-A c.499-8C>T splice_region ANKRD22 4 82808 4.83045E-5 41404 0 4.13606E-5
10-90583040-A-T p.Asn165Lys missense ANKRD22 1 82852 1.20697E-5 41426 0 NA
10-90583068-T-G p.Glu156Ala missense ANKRD22 1 83036 1.2043E-5 41518 0 8.2371E-6
10-90583070-CAAGAGCAGAGGGAT-C p.Ile151fs frameshift ANKRD22 1 83060 1.20395E-5 41530 0 NA
10-90583080-G-T p.Pro152His missense ANKRD22 1 83102 1.20334E-5 41551 0 NA
10-90583085-A-G p.Leu150Leu synonymous ANKRD22 26 83106 3.12853E-4 41553 0 1.39173E-4
10-90583086-A-G p.Leu150Pro missense ANKRD22 1 83106 1.20328E-5 41553 0 NA
10-90583087-G-A p.Leu150Phe missense ANKRD22 1 83110 1.20322E-5 41555 0 NA
10-90583092-T-G p.Gln148Pro missense ANKRD22 5483 82962 0.0660905 41481 300 0.093246
10-90583111-C-A p.Ala142Ser missense ANKRD22 1 83056 1.20401E-5 41528 0 3.97652E-6
10-90583116-T-A p.His140Leu missense ANKRD22 1 83010 1.20467E-5 41505 0 3.18573E-5
10-90583123-C-T p.Ala138Thr missense ANKRD22 2 82898 2.4126E-5 41449 0 8.24362E-6
10-90583132-C-T p.Gly135Ser missense ANKRD22 2 82838 2.41435E-5 41419 0 8.24729E-6
10-90583132-C-G p.Gly135Arg missense ANKRD22 1 82838 1.20718E-5 41419 0 NA
10-90583137-T-A c.400-2A>T splice_acceptor ANKRD22 2 82742 2.41715E-5 41371 0 NA
10-90585797-A-G p.Cys133Arg missense+splice_region ANKRD22 2 82008 2.43879E-5 41004 0 4.98538E-5
10-90585801-TGTAGCATTAACTTCGACGCCAGCATCAA-T p.Leu122fs frameshift ANKRD22 2 82126 2.43528E-5 41063 0 NA
10-90585804-A-G p.Ala130Ala synonymous ANKRD22 2 82204 2.43297E-5 41102 0 8.2982E-6
10-90585815-C-T p.Glu127Lys missense ANKRD22 3 82326 3.64405E-5 41163 0 1.19904E-5
10-90585816-G-A p.Val126Val synonymous ANKRD22 2 82334 2.42913E-5 41167 0 5.03525E-4
10-90585818-C-T p.Val126Ile missense ANKRD22 7 82352 8.5001E-5 41176 0 5.03525E-4
10-90585819-G-A p.Gly125Gly synonymous ANKRD22 29497 81464 0.362086 40732 5502 0.435625
10-90585831-T-G p.Leu121Leu synonymous ANKRD22 1 82430 1.21315E-5 41215 0 3.59172E-5
10-90585832-A-G p.Leu121Pro missense ANKRD22 1 82434 1.21309E-5 41217 0 5.03525E-4
10-90585838-C-T p.Arg119Gln missense ANKRD22 1 82418 1.21333E-5 41209 0 3.18492E-5
10-90585839-G-A p.Arg119* stop_gained ANKRD22 2 82418 2.42665E-5 41209 0 0.0025
10-90585839-G-T p.Arg119Arg synonymous ANKRD22 2 82420 2.4266E-5 41210 0 6.37308E-5
10-90585850-T-C p.Glu115Gly missense ANKRD22 1 82440 1.213E-5 41220 0 NA
10-90585851-C-A p.Glu115* stop_gained ANKRD22 1 82438 1.21303E-5 41219 0 1.19823E-5
10-90585871-A-G p.Val108Ala missense+splice_region ANKRD22 4 82240 4.86381E-5 41120 0 1.63312E-4
10-90585875-A-G c.322-3T>C splice_region ANKRD22 1 82110 1.21788E-5 41055 0 3.18471E-5
10-90588318-T-C p.Met107Val missense+splice_region ANKRD22 1 82234 1.21604E-5 41117 0 4.13907E-4
10-90588324-A-C p.Phe105Val missense ANKRD22 4 82352 4.8572E-5 41176 0 5.03525E-4
10-90588331-A-G p.Ile102Ile synonymous ANKRD22 1 82460 1.21271E-5 41230 0 NA
10-90588336-G-A p.Leu101Phe missense ANKRD22 1 82500 1.21212E-5 41250 0 8.26392E-6
10-90588339-G-A p.Leu100Leu synonymous ANKRD22 1 82524 1.21177E-5 41262 0 3.99917E-6
10-90588342-C-T p.Val99Ile missense ANKRD22 1 82570 1.21109E-5 41285 0 NA
10-90588345-G-C p.Pro98Ala missense ANKRD22 1 82612 1.21048E-5 41306 0 5.78503E-5
10-90588346-C-T p.Met97Ile missense ANKRD22 1 82628 1.21024E-5 41314 0 NA
10-90588357-T-C p.Ile94Val missense ANKRD22 1 82696 1.20925E-5 41348 0 NA
10-90588364-T-C p.Leu91Leu synonymous ANKRD22 1 82678 1.20951E-5 41339 0 8.26433E-6
10-90588366-GATA-G p.Tyr90del conservative_inframe_deletion ANKRD22 1 82696 1.20925E-5 41348 0 NA
10-90588367-A-G p.Tyr90Tyr synonymous ANKRD22 1 82700 1.20919E-5 41350 0 1.65314E-5
10-90588380-G-A p.Thr86Ile missense ANKRD22 53 82660 6.41181E-4 41330 0 0.00108301
10-90588398-G-A p.Ala80Val missense ANKRD22 1 82528 1.21171E-5 41264 0 8.09297E-6
10-90588418-CTCTTTCTAAAAATTAAGAAAAGGA-C p.Lys72fs frameshift ANKRD22 1 82238 1.21598E-5 41119 0 8.34613E-6
10-90588418-CTCTT-C p.Lys72fs frameshift ANKRD22 1 82238 1.21598E-5 41119 0 6.36821E-5
10-90588419-T-C p.Glu73Gly missense ANKRD22 17 82192 2.06833E-4 41096 0 6.08177E-4
10-90588430-A-G c.214-7T>C splice_region ANKRD22 1 81762 1.22306E-5 40881 0 4.47171E-6
10-90591587-C-T c.213+5G>A splice_region ANKRD22 1 83282 1.20074E-5 41641 0 8.68116E-6
10-90591590-A-G c.213+2T>C splice_donor ANKRD22 1 83284 1.20071E-5 41642 0 NA
10-90591591-C-T c.213+1G>A splice_donor ANKRD22 1 83286 1.20068E-5 41643 0 NA
10-90591595-G-GT p.Asn70fs frameshift ANKRD22 1 83306 1.20039E-5 41653 0 NA
10-90591611-T-C p.Asn65Ser missense ANKRD22 2 83346 2.39964E-5 41673 0 4.044E-6
10-90591626-A-G p.Leu60Ser missense ANKRD22 1 83352 1.19973E-5 41676 0 NA
10-90591640-G-A p.Ile55Ile synonymous ANKRD22 2 83360 2.39923E-5 41680 0 9.55962E-5
10-90591647-ACATGC-A p.His52fs frameshift ANKRD22 1 83362 1.19959E-5 41681 0 6.36983E-5
10-90591656-C-T p.Arg50Gln missense ANKRD22 1 83366 1.19953E-5 41683 0 2.23001E-4
10-90591657-G-A p.Arg50* stop_gained ANKRD22 5 83370 5.99736E-5 41685 0 2.47264E-5
10-90591659-C-T p.Arg49Lys missense ANKRD22 27 83374 3.23842E-4 41687 0 0.00171422
10-90591659-C-A p.Arg49Met missense ANKRD22 1 83374 1.19941E-5 41687 0 NA
10-90591661-G-C p.Cys48Trp missense ANKRD22 1 83376 1.19939E-5 41688 0 NA
10-90591662-C-T p.Cys48Tyr missense ANKRD22 2 83376 2.39877E-5 41688 1 NA
10-90591669-A-G p.Cys46Arg missense ANKRD22 1 83372 1.19944E-5 41686 0 NA
10-90591673-CA-C p.Leu44fs frameshift ANKRD22 1 83360 1.19962E-5 41680 0 3.18593E-5
10-90591679-C-T p.Thr42Thr synonymous ANKRD22 4 83360 4.79846E-5 41680 0 2.38686E-5
10-90591680-G-A p.Thr42Met missense ANKRD22 2 83364 2.39912E-5 41682 0 3.18735E-5
10-90591683-T-A p.Asp41Val missense ANKRD22 1 83366 1.19953E-5 41683 0 NA
10-90591688-A-G p.Asn39Asn synonymous ANKRD22 1 83368 1.1995E-5 41684 0 1.19332E-5
10-90591705-C-T p.Val34Ile missense ANKRD22 4 83348 4.79916E-5 41674 0 5.03525E-4
10-90591706-G-A p.Asn33Asn synonymous ANKRD22 18 83348 2.15962E-4 41674 0 1.07447E-4
10-90591710-G-C p.Ala32Gly missense ANKRD22 8 83346 9.59854E-5 41673 0 9.55718E-5
10-90591723-C-T p.Asp28Asn missense ANKRD22 2 83320 2.40038E-5 41660 0 1.83058E-4
10-90591729-T-C p.Lys26Glu missense ANKRD22 1 83304 1.20042E-5 41652 0 NA
10-90591731-A-C p.Val25Gly missense ANKRD22 2 83188 2.40419E-5 41594 0 0.0357503
10-90591737-C-T p.Arg23Gln missense ANKRD22 9 83334 1.07999E-4 41667 0 0.00125
10-90591738-G-A p.Arg23Trp missense ANKRD22 119 83334 0.00142799 41667 1 0.00151057
10-90591751-A-G p.Phe18Phe synonymous ANKRD22 1 83318 1.20022E-5 41659 0 2.00186E-5
10-90591754-G-A p.Asp17Asp synonymous ANKRD22 1 83310 1.20034E-5 41655 0 4.00176E-6
10-90591781-G-T p.Pro8Pro splice_region+synonymous ANKRD22 1 83206 1.20184E-5 41603 0 3.18593E-5
10-90591791-G-A c.22-8C>T splice_region ANKRD22 9 82946 1.08504E-4 41473 0 1.60294E-4
10-90611347-A-G p.Ser6Ser synonymous ANKRD22 2 82504 2.42412E-5 41252 0 NA
10-90611415-G-C c.-51C>G 5_prime_UTR_premature_start_codon_gain ANKRD22 1 81196 1.23159E-5 40598 0 3.59612E-5
10-90611432-T-C c.-68A>G 5_prime_UTR_premature_start_codon_gain ANKRD22 1 80002 1.24997E-5 40001 0 NA
10-90611515-C-T c.-151G>A 5_prime_UTR_premature_start_codon_gain ANKRD22 1 65418 1.52863E-5 32709 0 NA
10-90611545-G-A c.-181C>T 5_prime_UTR_premature_start_codon_gain ANKRD22 4 54354 7.35916E-5 27177 0 3.18431E-5
10-90611553-C-G c.-189G>C 5_prime_UTR_premature_start_codon_gain ANKRD22 1 51280 1.95008E-5 25640 0 NA
10-90611574-A-G c.-210T>C 5_prime_UTR_premature_start_codon_gain ANKRD22 1 43502 2.29874E-5 21751 0 3.18573E-5