Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-73975897-G-A c.-28+1G>A splice_donor ANAPC16 1 2430 4.11523E-4 1215 0 6.37633E-5
10-73975901-G-A c.-28+5G>A splice_region ANAPC16 1 2372 4.21585E-4 1186 0 NA
10-73983636-TTC-T c.-27-6_-27-5delCT splice_region ANAPC16 1 81408 1.22838E-5 40704 0 3.18512E-5
10-73983638-C-G c.-27-8C>G splice_region ANAPC16 2 81446 2.45561E-5 40723 0 5.15393E-5
10-73983673-A-G p.Met1? start_lost ANAPC16 3 83238 3.60412E-5 41619 0 5.03525E-4
10-73983675-G-A p.Met1? start_lost ANAPC16 1 83240 1.20135E-5 41620 0 NA
10-73983690-A-C p.Ser6Ser synonymous ANAPC16 111 83304 0.00133247 41652 0 9.65297E-4
10-73983693-C-A p.Ser7Ser synonymous ANAPC16 22 83318 2.64049E-4 41659 0 0.0016652
10-73983698-C-T p.Ser9Leu missense ANAPC16 89 83318 0.0010682 41659 0 0.0020141
10-73983699-A-G p.Ser9Ser synonymous ANAPC16 2 83326 2.40021E-5 41663 0 1.1978E-5
10-73983725-T-C p.Val18Ala missense ANAPC16 1 83364 1.19956E-5 41682 0 NA
10-73983732-A-G p.Gly20Gly synonymous ANAPC16 4 83372 4.79777E-5 41686 0 3.58198E-5
10-73983736-GG-TC p.Gly22Ser missense ANAPC16 1 83374 1.19941E-5 41687 0 NA
10-73983746-T-A p.Val25Asp missense ANAPC16 1 83364 1.19956E-5 41682 0 NA
10-73983754-C-G p.Leu28Val missense ANAPC16 1 83352 1.19973E-5 41676 0 NA
10-73983758-C-A p.Ala29Asp missense ANAPC16 13 83342 1.55984E-4 41671 0 5.57507E-5
10-73983767-G-A p.Arg32Gln missense ANAPC16 40 83356 4.79869E-4 41678 0 0.00133826
10-73983771-A-G p.Lys33Lys synonymous ANAPC16 1 83360 1.19962E-5 41680 0 NA
10-73983783-C-G p.Thr37Thr synonymous ANAPC16 2 83332 2.40004E-5 41666 0 3.98422E-6
10-73983786-C-A p.Tyr38* stop_gained ANAPC16 1 83320 1.20019E-5 41660 0 NA
10-73983787-C-T p.Pro39Ser missense ANAPC16 1 83322 1.20016E-5 41661 0 3.98683E-6
10-73983787-C-A p.Pro39Thr missense ANAPC16 1 83322 1.20016E-5 41661 0 NA
10-73983800-G-A p.Gly43Glu missense ANAPC16 11 83234 1.32158E-4 41617 0 2.22958E-4
10-73983811-G-A p.Glu47Lys missense ANAPC16 1 83030 1.20438E-5 41515 0 NA
10-73983814-G-A p.Asp48Asn missense+splice_region ANAPC16 1 82962 1.20537E-5 41481 0 NA
10-73990118-T-C c.143-6T>C splice_region ANAPC16 1 82566 1.21115E-5 41283 0 NA
10-73990126-G-A p.Gly49Ser missense+splice_region ANAPC16 4 82688 4.83746E-5 41344 0 1.19377E-5
10-73990132-G-A p.Glu51Lys missense ANAPC16 1 82780 1.20802E-5 41390 0 NA
10-73990151-C-A p.Ser57Tyr missense ANAPC16 1 82924 1.20592E-5 41462 0 NA
10-73990159-A-C p.Ser60Arg missense ANAPC16 1 82950 1.20555E-5 41475 0 NA
10-73990164-T-G p.Tyr61* stop_gained ANAPC16 1 82974 1.2052E-5 41487 0 NA
10-73990167-A-G p.Gln62Gln synonymous ANAPC16 5 82978 6.02569E-5 41489 0 3.18451E-5
10-73990179-G-A p.Thr66Thr synonymous ANAPC16 2 82902 2.41249E-5 41451 0 5.03525E-4
10-73992756-C-T c.218-3C>T splice_region ANAPC16 1 82534 1.21162E-5 41267 0 NA
10-73992766-A-G p.Gln75Gln synonymous ANAPC16 1 82560 1.21124E-5 41280 0 3.19305E-5
10-73992767-G-A p.Val76Ile missense ANAPC16 17 82548 2.05941E-4 41274 0 NA
10-73992770-GC-TT p.Ala77Phe missense ANAPC16 6 82580 7.26568E-5 41290 0 NA
10-73992773-C-T p.Arg78Trp missense ANAPC16 1 82580 1.21095E-5 41290 0 1.65106E-5
10-73992774-G-A p.Arg78Gln missense ANAPC16 9 82586 1.08977E-4 41293 0 6.25E-4
10-73992780-A-G p.Glu80Gly missense ANAPC16 2 82690 2.41867E-5 41345 0 3.18451E-5
10-73992781-A-T p.Glu80Asp missense ANAPC16 1 82718 1.20893E-5 41359 0 NA
10-73992783-A-G p.Lys81Arg missense ANAPC16 1 82698 1.20922E-5 41349 0 3.9854E-6
10-73992817-C-A p.Asp92Glu missense ANAPC16 1 83100 1.20337E-5 41550 0 3.97928E-6
10-73992817-C-G p.Asp92Glu missense ANAPC16 3 83100 3.61011E-5 41550 0 2.47394E-5
10-73992819-A-C p.Glu93Ala missense ANAPC16 1 83120 1.20308E-5 41560 0 NA
10-73992824-C-T p.Arg95Trp missense ANAPC16 1 83138 1.20282E-5 41569 0 1.61981E-5
10-73992825-G-A p.Arg95Gln missense ANAPC16 3 83168 3.60716E-5 41584 0 6.81594E-5
10-73992835-C-T p.Pro98Pro synonymous ANAPC16 1 83100 1.20337E-5 41550 0 8.25123E-6
10-73992839-G-A p.Glu100Lys missense ANAPC16 1 83100 1.20337E-5 41550 0 3.18532E-5
10-73992843-A-T p.Gln101Leu missense ANAPC16 2 83154 2.40518E-5 41577 0 8.25505E-6
10-73992861-C-A p.Pro107His missense ANAPC16 5 83152 6.01308E-5 41576 0 2.56504E-4
10-73992862-C-G p.Pro107Pro synonymous ANAPC16 2544 83110 0.03061 41555 205 0.0569644
10-73992871-T-C p.Gly110Gly synonymous ANAPC16 8 83096 9.62742E-5 41548 0 5.73248E-4
10-73993363-CT-C n.734delT splice_region ANAPC16 107 44572 0.00240061 22286 0 0.0011904
10-73993586-A-G n.1827A>G splice_region ANAPC16 1 44710 2.23664E-5 22355 0 NA