Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-20548508-G-C c.*72C>G splice_region ACSM2B 1 83012 1.20465E-5 41506 0 NA
16-20548509-T-G c.*71A>C splice_region ACSM2B 23 83028 2.77015E-4 41514 0 6.69088E-4
16-20548583-C-G p.Gln577His missense ACSM2B 2 83396 2.3982E-5 41698 0 1.27421E-4
16-20548586-C-T p.Ala576Ala synonymous ACSM2B 7 83398 8.39349E-5 41699 0 0.00125156
16-20548586-C-A p.Ala576Ala synonymous ACSM2B 7 83398 8.39349E-5 41699 0 1.27429E-4
16-20548587-G-A p.Ala576Val missense ACSM2B 4 83396 4.79639E-5 41698 0 6.59228E-5
16-20548587-G-T p.Ala576Glu missense ACSM2B 1 83396 1.1991E-5 41698 0 3.9769E-6
16-20548589-A-G p.Arg575Arg synonymous ACSM2B 1 83396 1.1991E-5 41698 0 8.23981E-6
16-20548590-C-T p.Arg575His missense ACSM2B 2 83400 2.39808E-5 41700 0 5.03525E-4
16-20548591-G-C p.Arg575Gly missense ACSM2B 3 83400 3.59712E-5 41700 0 1.98832E-5
16-20548591-G-A p.Arg575Cys missense ACSM2B 2 83400 2.39808E-5 41700 0 7.41559E-5
16-20548601-G-A p.Ser571Ser synonymous ACSM2B 2 83404 2.39797E-5 41702 0 6.25782E-4
16-20548613-C-T p.Glu567Glu synonymous ACSM2B 1 83408 1.19893E-5 41704 0 8.23791E-6
16-20548621-C-A p.Asp565Tyr missense ACSM2B 2 83406 2.39791E-5 41703 0 3.97652E-6
16-20548624-G-C p.Arg564Gly missense ACSM2B 12 83404 1.43878E-4 41702 1 3.18634E-5
16-20548624-G-A p.Arg564* stop_gained ACSM2B 2 83404 2.39797E-5 41702 0 5.76654E-5
16-20548627-GT-G p.Lys562fs frameshift ACSM2B 5 83404 5.99492E-5 41702 0 1.64753E-5
16-20548630-TG-T p.Lys562fs frameshift ACSM2B 7 83404 8.39288E-5 41702 0 8.2375E-6
16-20548633-TTCGTTG-T p.Gln559_Arg560del conservative_inframe_deletion ACSM2B 7 83404 8.39288E-5 41702 0 8.23791E-6
16-20548635-C-T p.Arg560Gln missense ACSM2B 5 83404 5.99492E-5 41702 0 1.98839E-5
16-20548636-G-A p.Arg560* stop_gained ACSM2B 6 83404 7.1939E-5 41702 0 6.25782E-4
16-20548655-A-T p.Thr553Thr synonymous ACSM2B 7 83394 8.39389E-5 41697 0 2.06797E-4
16-20548656-G-A p.Thr553Ile missense ACSM2B 3 83392 3.59747E-5 41696 0 3.18613E-5
16-20548660-T-A p.Lys552* stop_gained ACSM2B 1 83388 1.19921E-5 41694 0 NA
16-20548663-G-T p.Pro551Thr missense ACSM2B 5 83392 5.99578E-5 41696 0 4.37518E-5
16-20548691-A-G c.1630-7T>C splice_region ACSM2B 1 83364 1.19956E-5 41682 0 4.12126E-5
16-20551969-G-C c.1629+7C>G splice_region ACSM2B 1 83350 1.19976E-5 41675 0 NA
16-20551975-C-T c.1629+1G>A splice_donor ACSM2B 3 83366 3.59859E-5 41683 0 4.77597E-5
16-20551976-C-G p.Lys543Asn missense+splice_region ACSM2B 3 83360 3.59885E-5 41680 0 6.25782E-4
16-20551978-T-C p.Lys543Glu missense+splice_region ACSM2B 1 83366 1.19953E-5 41683 0 8.24049E-6
16-20551984-G-A p.Pro541Ser missense ACSM2B 1 83362 1.19959E-5 41681 0 8.239E-6
16-20551985-G-T p.Tyr540* stop_gained ACSM2B 2 83358 2.39929E-5 41679 0 NA
16-20551987-A-T p.Tyr540Asn missense ACSM2B 254 83352 0.00304732 41676 0 0.00251689
16-20551995-G-A p.Pro537Leu missense ACSM2B 98 83374 0.00117543 41687 0 0.00358728
16-20552008-A-G p.Ser533Pro missense ACSM2B 1 83392 1.19916E-5 41696 0 NA
16-20552010-T-A p.Lys532Met missense ACSM2B 1 83396 1.1991E-5 41698 0 NA
16-20552039-C-A p.Gln522His missense ACSM2B 4 83406 4.79582E-5 41703 0 NA
16-20552039-C-T p.Gln522Gln synonymous ACSM2B 2 83406 2.39791E-5 41703 0 2.90284E-4
16-20552057-T-C p.Leu516Leu synonymous ACSM2B 1 83402 1.19901E-5 41701 0 0.00100705
16-20552057-T-TA p.Ser517fs frameshift ACSM2B 1 83404 1.19898E-5 41702 0 3.97649E-6
16-20552060-G-A p.Phe515Phe synonymous ACSM2B 1 83406 1.19895E-5 41703 0 NA
16-20552064-T-G p.Gln514Pro missense ACSM2B 1 83406 1.19895E-5 41703 0 NA
16-20552066-C-T p.Ser513Ser synonymous ACSM2B 153 83396 0.00183462 41698 1 0.00423675
16-20552067-G-A p.Ser513Leu missense ACSM2B 1 83404 1.19898E-5 41702 0 5.16952E-5
16-20552071-C-A p.Ala512Ser missense ACSM2B 4 83402 4.79605E-5 41701 0 0.00151057
16-20552074-G-A p.Leu511Leu synonymous ACSM2B 2 83408 2.39785E-5 41704 0 1.64731E-5
16-20552075-G-T p.Ile510Ile synonymous ACSM2B 66944 82818 0.808327 41409 27159 0.797583
16-20552080-C-T p.Val509Met missense ACSM2B 1 83410 1.1989E-5 41705 0 NA
16-20552094-A-G p.Val504Ala missense+splice_region ACSM2B 2 83396 2.3982E-5 41698 0 2.22958E-4
16-20554229-C-T c.1509+7G>A splice_region ACSM2B 2 81722 2.44732E-5 40861 0 6.25E-4
16-20554243-C-T p.Arg501Gln missense ACSM2B 2 81782 2.44553E-5 40891 0 7.17189E-5
16-20554244-G-A p.Arg501* stop_gained ACSM2B 1 81788 1.22267E-5 40894 0 3.19142E-5
16-20554248-G-A p.Pro499Pro synonymous ACSM2B 2782 79750 0.034884 39875 112 0.0877193
16-20554266-C-G p.Val493Val synonymous ACSM2B 2 81824 2.44427E-5 40912 0 7.9647E-6
16-20554273-G-A p.Thr491Met missense ACSM2B 1 81828 1.22208E-5 40914 0 0.00177096
16-20554285-G-T p.Ala487Asp missense ACSM2B 1 81842 1.22187E-5 40921 0 3.19163E-5
16-20554289-G-A p.Pro486Ser missense ACSM2B 1 81844 1.22184E-5 40922 0 8.24131E-6
16-20554290-G-A p.His485His synonymous ACSM2B 3 81846 3.66542E-5 40923 0 1.64823E-5
16-20554295-T-C p.Lys484Glu missense ACSM2B 13 81574 1.59364E-4 40787 0 0.0102973
16-20554305-A-G p.Asn480Asn synonymous ACSM2B 4 81854 4.88675E-5 40927 0 9.57732E-5
16-20554308-C-T p.Glu479Glu synonymous ACSM2B 2 81850 2.44349E-5 40925 0 7.96438E-5
16-20554317-C-T p.Ser476Ser synonymous ACSM2B 117 81698 0.0014321 40849 0 0.0025
16-20554318-G-A p.Ser476Leu missense ACSM2B 2 81848 2.44355E-5 40924 0 3.19326E-5
16-20554331-G-A p.Arg472Trp missense ACSM2B 19 81834 2.32177E-4 40917 0 0.00119048
16-20554453-T-C c.1409+4A>G splice_region ACSM2B 2 81880 2.4426E-5 40940 0 3.98156E-6
16-20554453-T-G c.1409+4A>C splice_region ACSM2B 1 81882 1.22127E-5 40941 0 NA
16-20554455-AC-A c.1409+1delG splice_donor ACSM2B 1 81882 1.22127E-5 40941 0 NA
16-20554458-C-T p.Gly470Arg missense+splice_region ACSM2B 3 81890 3.66345E-5 40945 0 1.59337E-4
16-20554459-G-A p.Ser469Ser splice_region+synonymous ACSM2B 5 81884 6.1062E-5 40942 0 0.00233372
16-20554471-G-A p.Ile465Ile synonymous ACSM2B 1 81886 1.22121E-5 40943 0 3.29462E-5
16-20554478-T-A p.Asp463Val missense ACSM2B 2 81878 2.44266E-5 40939 0 0.00113663
16-20554484-C-T p.Arg38Gln missense+splice_region ACSM2B 6 81868 7.32887E-5 40934 0 1.07073E-4
16-20554485-G-A p.Arg38Trp missense+splice_region ACSM2B 10 81874 1.22139E-4 40937 0 5.76701E-4
16-20554488-C-G p.Gly460Arg missense ACSM2B 2 81880 2.4426E-5 40940 0 1.19435E-5
16-20554497-G-A p.Gln457* stop_gained ACSM2B 1 81878 1.22133E-5 40939 0 1.19436E-5
16-20554509-C-T p.Asp453Asn missense ACSM2B 1 81874 1.22139E-5 40937 0 3.98118E-6
16-20554512-C-T p.Glu452Lys missense ACSM2B 1 81864 1.22154E-5 40932 0 NA
16-20554513-A-G p.Asp451Asp synonymous ACSM2B 2 81850 2.44349E-5 40925 0 3.06563E-4
16-20554527-G-A p.Arg447Trp missense ACSM2B 6 81822 7.33299E-5 40911 0 6.25E-4
16-20554542-A-G p.Trp442Arg missense ACSM2B 39 81590 4.78E-4 40795 0 0.00592961
16-20554551-C-T p.Gly439Arg missense ACSM2B 5 81784 6.11367E-5 40892 0 2.82751E-4
16-20554560-T-A p.Asn436Tyr missense ACSM2B 55 81702 6.73178E-4 40851 1 0.00298053
16-20554573-G-A p.Asp431Asp synonymous ACSM2B 1 81658 1.22462E-5 40829 0 NA
16-20554576-G-A p.Pro430Pro synonymous ACSM2B 2 81538 2.45284E-5 40769 0 3.35008E-5
16-20554577-G-T p.Pro430His missense ACSM2B 1 81514 1.22678E-5 40757 0 NA
16-20554582-T-G p.Glu428Asp missense+splice_region ACSM2B 165 77020 0.0021423 38510 5 0.126924
16-20555850-A-G n.883T>C splice_region ACSM2B 1 23952 4.17502E-5 11976 0 6.36943E-5
16-20555852-T-G n.881A>C splice_region ACSM2B 4 24000 1.66667E-4 12000 0 6.3678E-5
16-20556144-C-G n.589G>C splice_region ACSM2B 1 25624 3.90259E-5 12812 0 NA
16-20556147-A-C n.589-3T>G splice_region ACSM2B 1 25612 3.90442E-5 12806 0 NA
16-20556148-G-C n.589-4C>G splice_region ACSM2B 2 25628 7.80396E-5 12814 0 3.18471E-5
16-20556471-T-C c.1281+8A>G splice_region ACSM2B 2 83056 2.40801E-5 41528 0 3.99703E-6
16-20556483-T-A p.Tyr426Phe missense ACSM2B 1 83120 1.20308E-5 41560 0 NA
16-20556494-G-T p.Ile422Ile synonymous ACSM2B 11 83180 1.32243E-4 41590 0 9.09407E-5
16-20556496-T-C p.Ile422Val missense ACSM2B 1 83176 1.20227E-5 41588 0 NA
16-20556498-C-T p.Gly421Asp missense ACSM2B 12 83188 1.44252E-4 41594 0 2.22944E-4
16-20556505-G-A p.Pro419Ser missense ACSM2B 3 83216 3.60508E-5 41608 0 8.25928E-6
16-20556506-C-T p.Arg418Arg synonymous ACSM2B 2 83216 2.40338E-5 41608 0 8.25873E-6
16-20556508-T-A p.Arg418Trp missense ACSM2B 1 83224 1.20158E-5 41612 0 3.98089E-6
16-20556516-T-A p.Lys415Ile missense ACSM2B 1 83242 1.20132E-5 41621 0 NA
16-20556521-C-T p.Arg413Arg synonymous ACSM2B 1 83238 1.20137E-5 41619 0 1.65066E-5
16-20556522-C-G p.Arg413Thr missense ACSM2B 1 83236 1.2014E-5 41618 0 NA
16-20556526-T-C p.Ile412Val missense ACSM2B 1 83220 1.20163E-5 41610 0 3.30093E-5
16-20556528-C-T p.Gly411Asp missense ACSM2B 101 83206 0.00121385 41603 0 0.00391695
16-20556534-T-C p.Asp409Gly missense ACSM2B 1 83220 1.20163E-5 41610 0 1.19405E-5
16-20556547-C-CG p.Gly405fs frameshift ACSM2B 3 83182 3.60655E-5 41591 0 8.25382E-6
16-20556547-C-T p.Gly405Ser missense ACSM2B 17 83174 2.04391E-4 41587 0 2.86642E-4
16-20556549-G-C p.Pro404Arg missense ACSM2B 1 83184 1.20215E-5 41592 0 1.65076E-5
16-20556550-G-A p.Pro404Ser missense ACSM2B 72 83156 8.65843E-4 41578 2 0.00203822
16-20556557-G-C p.Val401Val synonymous ACSM2B 1 83152 1.20262E-5 41576 0 3.98146E-6
16-20556563-G-T p.Gly399Gly synonymous ACSM2B 5 83116 6.01569E-5 41558 0 7.96533E-5
16-20556564-C-T p.Gly399Asp missense ACSM2B 2 83112 2.40639E-5 41556 0 2.47856E-5
16-20556564-C-A p.Gly399Val missense ACSM2B 1 83112 1.2032E-5 41556 0 NA
16-20556565-C-T p.Gly399Ser missense ACSM2B 2 83106 2.40657E-5 41553 0 NA
16-20556567-T-C p.Lys398Arg missense ACSM2B 1 83096 1.20343E-5 41548 0 9.55049E-5
16-20556578-A-G p.Val394Val splice_region+synonymous ACSM2B 3 83078 3.61106E-5 41539 0 3.18512E-5
16-20556580-C-T p.Val394Ile missense+splice_region ACSM2B 2 83068 2.40767E-5 41534 0 3.18492E-5
16-20556586-G-A c.1180-6C>T splice_region ACSM2B 2 82978 2.41028E-5 41489 0 3.18431E-5
16-20557711-C-A c.1179+5G>T splice_region ACSM2B 1 81716 1.22375E-5 40858 0 8.61059E-6
16-20557719-T-C p.Val392Val synonymous ACSM2B 1 81806 1.2224E-5 40903 0 NA
16-20557731-G-A p.Ser388Ser synonymous ACSM2B 3 81694 3.67224E-5 40847 0 9.55475E-5
16-20557741-G-A p.Thr385Met missense ACSM2B 17 81406 2.0883E-4 40703 0 0.00101943
16-20557743-T-C p.Gly384Gly synonymous ACSM2B 2 81378 2.45767E-5 40689 0 1.74444E-5
16-20557749-G-A p.Tyr382Tyr synonymous ACSM2B 3 81128 3.69786E-5 40564 0 1.30272E-4
16-20557754-C-T p.Gly381Arg missense ACSM2B 4 80916 4.9434E-5 40458 0 8.73347E-6
16-20557755-T-C p.Pro380Pro synonymous ACSM2B 1 80872 1.23652E-5 40436 0 0.00101317
16-20557759-T-G p.Lys379Thr missense ACSM2B 1 80464 1.24279E-5 40232 0 NA
16-20557774-T-C p.Lys374Arg missense ACSM2B 1 79794 1.25323E-5 39897 0 4.23137E-6
16-20557786-C-A p.Cys370Phe missense ACSM2B 1 79488 1.25805E-5 39744 0 3.18532E-5
16-20557791-T-C p.Leu368Leu synonymous ACSM2B 99 79316 0.00124817 39658 1 0.00471698
16-20557791-T-G p.Leu368Phe missense ACSM2B 2 79354 2.52035E-5 39677 0 8.87186E-6
16-20557798-T-C c.1099-2A>G splice_acceptor ACSM2B 1 78900 1.26743E-5 39450 0 3.18613E-5
16-20557803-A-T c.1099-7T>A splice_region ACSM2B 14 78580 1.78162E-4 39290 0 1.51876E-4
16-20558490-T-C n.1293+8A>G splice_region ACSM2B 2 56890 3.51556E-5 28445 0 1.59266E-4
16-20558491-G-C n.1293+7C>G splice_region ACSM2B 2 56632 3.53157E-5 28316 0 1.59286E-4
16-20558494-C-T n.1293+4G>A splice_region ACSM2B 2 56102 3.56494E-5 28051 0 NA
16-20558497-C-A n.1293+1G>T splice_donor ACSM2B 1 55654 1.79682E-5 27827 0 NA
16-20559376-A-G c.1098+8T>C splice_region ACSM2B 2 83212 2.4035E-5 41606 0 3.1837E-5
16-20559377-C-G c.1098+7G>C splice_region ACSM2B 1 83216 1.20169E-5 41608 0 1.59199E-5
16-20559379-G-A c.1098+5C>T splice_region ACSM2B 2 83220 2.40327E-5 41610 0 3.97947E-6
16-20559381-T-C c.1098+3A>G splice_region ACSM2B 2 83224 2.40315E-5 41612 0 NA
16-20559385-G-A p.Thr366Met missense+splice_region ACSM2B 3 83230 3.60447E-5 41615 0 4.12045E-5
16-20559393-C-G p.Gln363His missense ACSM2B 3 83242 3.60395E-5 41621 0 NA
16-20559395-G-T p.Gln363Lys missense ACSM2B 2 83244 2.40258E-5 41622 0 NA
16-20559398-C-G p.Gly362Arg missense ACSM2B 45 83240 5.40605E-4 41620 1 6.59055E-4
16-20559400-T-C p.Tyr361Cys missense ACSM2B 1 83248 1.20123E-5 41624 0 NA
16-20559403-A-G p.Phe360Ser missense ACSM2B 22 83234 2.64315E-4 41617 0 2.06896E-4
16-20559409-C-T p.Arg358Gln missense ACSM2B 6 83254 7.20686E-5 41627 0 1.07399E-4
16-20559409-C-G p.Arg358Pro missense ACSM2B 1 83254 1.20114E-5 41627 0 NA
16-20559410-G-A p.Arg358* stop_gained ACSM2B 1 83256 1.20111E-5 41628 0 1.27413E-4
16-20559411-G-A p.Ile357Ile synonymous ACSM2B 1 83262 1.20103E-5 41631 0 7.95551E-6
16-20559417-C-G p.Leu355Leu synonymous ACSM2B 1 83260 1.20106E-5 41630 0 NA
16-20559418-A-G p.Leu355Pro missense ACSM2B 2 83266 2.40194E-5 41633 0 3.18431E-5
16-20559433-C-T p.Arg350Lys missense ACSM2B 2 83278 2.40159E-5 41639 0 8.23764E-6
16-20559441-C-T p.Glu347Glu synonymous ACSM2B 2 83284 2.40142E-5 41642 0 NA
16-20559447-A-T p.Thr345Thr synonymous ACSM2B 6 83290 7.20375E-5 41645 0 9.14789E-5
16-20559455-G-A p.Pro343Ser missense ACSM2B 1 83296 1.20054E-5 41648 0 NA
16-20559457-A-G p.Leu342Pro missense ACSM2B 4 83304 4.80169E-5 41652 0 8.23737E-6
16-20559458-G-A p.Leu342Phe missense ACSM2B 3 83310 3.60101E-5 41655 0 1.19319E-5
16-20559460-A-T p.Leu341His missense ACSM2B 2 83312 2.40061E-5 41656 0 NA
16-20559465-C-T p.Glu339Glu synonymous ACSM2B 4 83306 4.80158E-5 41653 0 3.29495E-5
16-20559466-T-G p.Glu339Ala missense ACSM2B 4 83306 4.80158E-5 41653 0 9.55718E-5
16-20559467-C-A p.Glu339* stop_gained ACSM2B 54 83298 6.48275E-4 41649 1 0.00136995
16-20559467-C-T p.Glu339Lys missense ACSM2B 9 83298 1.08046E-4 41649 0 6.25391E-4
16-20559472-C-A p.Gly337Val missense ACSM2B 7 82932 8.44065E-5 41466 0 6.37267E-4
16-20559472-C-T p.Gly337Glu missense ACSM2B 1 83302 1.20045E-5 41651 0 NA
16-20559476-C-T p.Ala336Thr missense ACSM2B 12 82938 1.44686E-4 41469 0 7.01262E-4
16-20559477-G-A p.Leu335Leu synonymous ACSM2B 1 83296 1.20054E-5 41648 0 2.47129E-5
16-20559479-G-C p.Leu335Val missense ACSM2B 7 82942 8.43963E-5 41471 0 6.3743E-4
16-20559481-C-T p.Cys334Tyr missense ACSM2B 2 83302 2.4009E-5 41651 0 2.30658E-4
16-20559482-A-C p.Cys334Gly missense ACSM2B 1 83304 1.20042E-5 41652 0 8.23778E-6
16-20559485-T-C p.Asn333Asp missense ACSM2B 1 83298 1.20051E-5 41649 0 8.23778E-6
16-20559489-T-C p.Leu331Leu synonymous ACSM2B 1 83294 1.20057E-5 41647 0 3.57998E-5
16-20559496-G-A p.Pro329Leu missense ACSM2B 1 83284 1.20071E-5 41642 0 0.00100705
16-20559500-A-G p.Phe328Leu missense ACSM2B 1 83272 1.20088E-5 41636 0 1.64796E-5
16-20559501-C-T p.Lys327Lys synonymous ACSM2B 88 83272 0.00105678 41636 0 8.40488E-4
16-20559505-T-C p.Tyr326Cys missense+splice_region ACSM2B 1 83280 1.20077E-5 41640 0 1.19354E-5
16-20559512-A-C c.975-5T>G splice_region ACSM2B 1 83268 1.20094E-5 41634 0 NA
16-20559514-A-T c.975-7T>A splice_region ACSM2B 1 83266 1.20097E-5 41633 0 NA
16-20559515-A-C c.975-8T>G splice_region ACSM2B 4 83262 4.80411E-5 41631 0 1.19388E-5
16-20559702-C-T c.*504G>A splice_region ACSM2B 1 80788 1.23781E-5 40394 0 NA
16-20559719-G-C p.Ser324Cys missense ACSM2B 3 81284 3.69076E-5 40642 0 3.18735E-5
16-20559726-C-T p.Asp322Asn missense ACSM2B 518 80750 0.00641486 40375 3 0.011875
16-20559743-C-T p.Arg316Gln missense ACSM2B 1 81506 1.2269E-5 40753 0 6.3743E-5
16-20559744-G-A p.Arg316Trp missense ACSM2B 1 81508 1.22687E-5 40754 0 9.56206E-5
16-20559745-GT-G p.Tyr315fs frameshift ACSM2B 1 81514 1.22678E-5 40757 0 8.24457E-6
16-20559754-A-G p.Pro312Pro synonymous ACSM2B 215 80698 0.00266425 40349 2 0.021191
16-20559757-G-T p.Ala311Ala synonymous ACSM2B 1 81546 1.2263E-5 40773 0 6.77145E-5
16-20559758-G-A p.Ala311Val missense ACSM2B 1 81538 1.22642E-5 40769 0 NA
16-20559762-C-A p.Gly310Cys missense ACSM2B 1 81516 1.22675E-5 40758 0 NA
16-20559763-C-A p.Met309Ile missense ACSM2B 1 81510 1.22684E-5 40755 0 NA
16-20559777-T-C p.Ile305Val missense ACSM2B 853 79904 0.0106753 39952 62 0.0436961
16-20559801-A-G c.895-6T>C splice_region ACSM2B 1 80306 1.24524E-5 40153 0 1.99402E-5
16-20561077-A-G p.Ter150Argext*? stop_lost ACSM2B 1 8024 1.24626E-4 4012 0 0.00239091
16-20561086-T-C p.Lys147Glu missense ACSM2B 1 8028 1.24564E-4 4014 0 0.00105074
16-20561087-A-T p.Phe146Leu missense ACSM2B 102 8024 0.0127119 4012 2 0.0112463
16-20561118-G-A p.Pro136Leu missense ACSM2B 1 8032 1.24502E-4 4016 0 NA
16-20561131-C-T p.Ala132Thr missense ACSM2B 2 8020 2.49377E-4 4010 0 3.81549E-4
16-20561146-TA-T p.Tyr126fs frameshift ACSM2B 24 8020 0.00299252 4010 0 0.0065995
16-20561190-G-T p.Ser112* stop_gained ACSM2B 1954 7468 0.26165 3734 310 0.430328
16-20561204-G-T c.325-4C>A splice_region ACSM2B 1 7976 1.25376E-4 3988 0 2.29663E-5
16-20563457-CT-C c.894+8delA splice_region ACSM2B 20 83216 2.40338E-4 41608 0 2.29552E-4
16-20563459-C-T c.894+7G>A splice_region ACSM2B 11 83240 1.32148E-4 41620 0 6.6084E-4
16-20563465-C-G c.894+1G>C splice_donor ACSM2B 1 83286 1.20068E-5 41643 0 2.62628E-5
16-20563493-TG-T p.Pro289fs frameshift ACSM2B 7 83330 8.40034E-5 41665 0 2.67165E-4
16-20563498-A-G p.Leu288Leu synonymous ACSM2B 4 83342 4.7995E-5 41671 0 NA
16-20563504-G-T p.His286Asn missense ACSM2B 1 83348 1.19979E-5 41674 0 NA
16-20563504-GAAC-G p.Val285del conservative_inframe_deletion ACSM2B 1 83348 1.19979E-5 41674 0 NA
16-20563520-T-A p.Gly280Gly synonymous ACSM2B 2 83358 2.39929E-5 41679 0 3.18593E-5
16-20563522-C-T p.Gly280Arg missense ACSM2B 6 83356 7.19804E-5 41678 0 6.37267E-5
16-20563528-T-C p.Thr278Ala missense ACSM2B 5423 81872 0.0662375 40936 471 0.119335
16-20563534-A-C p.Ser276Ala missense ACSM2B 1 83362 1.19959E-5 41681 0 8.24348E-6
16-20563535-T-C p.Glu275Glu synonymous ACSM2B 1 83364 1.19956E-5 41682 0 1.64872E-5
16-20563537-C-A p.Glu275* stop_gained ACSM2B 1 83360 1.19962E-5 41680 0 3.97836E-6
16-20563544-T-G p.Ser272Ser synonymous ACSM2B 640 83332 0.00768012 41666 4 0.00872999
16-20563555-T-C p.Ile269Val missense ACSM2B 4 83342 4.7995E-5 41671 0 8.75287E-5
16-20563556-G-A p.Asn268Asn synonymous ACSM2B 1 83336 1.19996E-5 41668 0 8.24457E-6
16-20563568-AC-A p.Gly264fs frameshift ACSM2B 1 83320 1.20019E-5 41660 0 3.97956E-6
16-20563581-A-G p.Ile260Thr missense ACSM2B 1 83294 1.20057E-5 41647 0 1.19427E-5
16-20563590-A-G p.Met257Thr missense ACSM2B 1 83276 1.20083E-5 41638 0 8.29545E-6
16-20563594-T-C p.Ile256Val missense ACSM2B 1 83258 1.20109E-5 41629 0 NA
16-20563603-C-A p.Ala253Ser missense ACSM2B 1 83198 1.20195E-5 41599 0 0.00100705
16-20563610-G-C p.Gly250Gly synonymous ACSM2B 2 83154 2.40518E-5 41577 0 4.20571E-5
16-20563611-C-T p.Gly250Asp missense ACSM2B 1 83148 1.20267E-5 41574 0 NA
16-20565094-C-T c.740+5G>A splice_region ACSM2B 1 83050 1.20409E-5 41525 0 8.39899E-6
16-20565115-C-T p.Ala242Thr missense ACSM2B 2 83112 2.40639E-5 41556 0 2.80393E-5
16-20565127-G-C p.Leu238Val missense ACSM2B 1 83108 1.20325E-5 41554 0 NA
16-20565131-C-T p.Ser236Ser synonymous ACSM2B 4 83108 4.81301E-5 41554 0 8.33236E-6
16-20565132-G-A p.Ser236Leu missense ACSM2B 2 83120 2.40616E-5 41560 0 5.04032E-4
16-20565134-G-C p.Tyr235* stop_gained ACSM2B 2 83124 2.40604E-5 41562 0 NA
16-20565155-G-A p.Pro228Pro synonymous ACSM2B 1 83074 1.20375E-5 41537 0 NA
16-20565160-G-A p.Leu227Phe missense ACSM2B 22 83092 2.64767E-4 41546 0 0.00151515
16-20565177-G-A p.Thr221Ile missense ACSM2B 1 83084 1.2036E-5 41542 0 NA
16-20565185-G-A p.Ile218Ile synonymous ACSM2B 6 83068 7.223E-5 41534 0 8.26692E-6
16-20565195-G-A p.Ala215Val missense ACSM2B 7 83034 8.43028E-5 41517 0 1.07413E-4
16-20565201-T-G p.Gln213Pro missense ACSM2B 1 83016 1.20459E-5 41508 0 NA
16-20565205-T-C p.Ser212Gly missense ACSM2B 1 82972 1.20523E-5 41486 0 NA
16-20565211-T-C p.Thr210Ala missense ACSM2B 1 82930 1.20584E-5 41465 0 3.98241E-6
16-20565221-G-A p.His206His synonymous ACSM2B 1 82874 1.20665E-5 41437 0 3.98327E-6
16-20565223-G-T p.His206Asn missense ACSM2B 1 82848 1.20703E-5 41424 0 8.25573E-6
16-20565226-G-A p.His205Tyr missense ACSM2B 3 82830 3.62188E-5 41415 0 9.55475E-5
16-20565228-G-C p.Thr204Ser missense ACSM2B 3 82808 3.62284E-5 41404 0 3.18471E-5
16-20565235-A-C p.Ser202Ala missense ACSM2B 1 82672 1.2096E-5 41336 0 NA
16-20565242-A-C p.Asn199Lys missense+splice_region ACSM2B 2 82524 2.42354E-5 41262 0 3.18552E-5
16-20565249-A-G c.597-7T>C splice_region ACSM2B 37 82270 4.49739E-4 41135 0 0.00125
16-20565467-ACTT-A p.Ter209fs frameshift ACSM2B 2 53904 3.7103E-5 26952 0 1.27397E-4
16-20565477-C-G p.Val207Leu missense ACSM2B 12 49902 2.40471E-4 24951 0 4.77677E-4
16-20565498-A-G p.Tyr200His missense+splice_region ACSM2B 4 39210 1.02015E-4 19605 0 4.02136E-5
16-20565500-C-A c.597-1G>T splice_acceptor ACSM2B 1 38490 2.59808E-5 19245 0 3.19428E-5
16-20566584-T-A c.596+7A>T splice_region ACSM2B 1 81754 1.22318E-5 40877 0 NA
16-20566617-C-G p.Gly190Gly synonymous ACSM2B 1 81808 1.22237E-5 40904 0 NA
16-20566617-C-T p.Gly190Gly synonymous ACSM2B 1 81808 1.22237E-5 40904 0 3.18573E-5
16-20566617-C-A p.Gly190Gly synonymous ACSM2B 1 81808 1.22237E-5 40904 0 NA
16-20566618-C-G p.Gly190Ala missense ACSM2B 1 81808 1.22237E-5 40904 0 NA
16-20566619-C-T p.Gly190Arg missense ACSM2B 1 81814 1.22228E-5 40907 0 3.98149E-6
16-20566620-A-T p.Asp189Glu missense ACSM2B 2 81816 2.44451E-5 40908 0 NA
16-20566621-T-A p.Asp189Val missense ACSM2B 2 81818 2.44445E-5 40909 0 1.59255E-5
16-20566622-C-T p.Asp189Asn missense ACSM2B 3 81818 3.66667E-5 40909 0 3.98137E-6
16-20566623-G-A p.Cys188Cys synonymous ACSM2B 9 81802 1.10022E-4 40901 0 3.18756E-4
16-20566644-T-C p.Leu181Leu synonymous ACSM2B 3 81802 3.66739E-5 40901 0 4.11821E-5
16-20566652-T-A p.Ile179Phe missense ACSM2B 7 81790 8.5585E-5 40895 0 3.1841E-5
16-20566661-A-C p.Ser176Ala missense ACSM2B 1 81776 1.22285E-5 40888 0 NA
16-20566662-A-G p.Pro175Pro synonymous ACSM2B 1 81780 1.22279E-5 40890 0 NA
16-20566666-C-T p.Cys174Tyr missense ACSM2B 1 81768 1.22297E-5 40884 0 8.23655E-6
16-20566699-A-G p.Val163Ala missense ACSM2B 1 81656 1.22465E-5 40828 0 3.98226E-6
16-20566702-T-G p.Glu162Ala missense ACSM2B 1 81658 1.22462E-5 40829 0 NA
16-20566712-C-A p.Ala159Ser missense ACSM2B 3 81646 3.6744E-5 40823 0 1.19488E-5
16-20566718-T-C p.Ile157Val missense ACSM2B 1 81638 1.22492E-5 40819 0 8.24729E-6
16-20566721-C-G p.Ala156Pro missense ACSM2B 1 81606 1.2254E-5 40803 0 NA
16-20566735-A-T p.Met151Lys missense ACSM2B 2 81578 2.45164E-5 40789 0 8.25805E-6
16-20566740-C-T p.Leu149Leu synonymous ACSM2B 1 81588 1.22567E-5 40794 0 3.18471E-5
16-20566745-T-C p.Arg148Gly missense ACSM2B 2 81618 2.45044E-5 40809 0 1.07456E-4
16-20566750-A-G p.Leu146Pro missense ACSM2B 1 81624 1.22513E-5 40812 0 NA
16-20566761-G-A p.Ser142Ser synonymous ACSM2B 20 81598 2.45104E-4 40799 0 1.27413E-4
16-20566772-G-T p.Gln139Lys missense ACSM2B 4 81634 4.89992E-5 40817 0 1.99649E-5
16-20566775-T-C p.Ile138Val missense ACSM2B 1 81636 1.22495E-5 40818 0 3.99151E-6
16-20566806-A-G c.389-8T>C splice_region ACSM2B 1 81588 1.22567E-5 40794 0 NA
16-20570558-C-A c.388+1G>T splice_donor ACSM2B 1 79854 1.25229E-5 39927 0 NA
16-20570564-C-T p.Arg128Gln missense ACSM2B 1 80078 1.24878E-5 40039 0 1.18912E-5
16-20570565-G-A p.Arg128* stop_gained ACSM2B 2 80162 2.49495E-5 40081 0 6.37349E-5
16-20570569-G-A p.Cys126Cys synonymous ACSM2B 1 80282 1.24561E-5 40141 0 1.03868E-5
16-20570577-G-A p.Leu124Leu synonymous ACSM2B 220 80450 0.00273462 40225 0 0.00712589
16-20570596-A-T p.Pro117Pro synonymous ACSM2B 48 80724 5.94619E-4 40362 0 0.00301996
16-20570598-G-A p.Pro117Ser missense ACSM2B 1 80710 1.239E-5 40355 0 3.18817E-5
16-20570603-C-T p.Arg115Gln missense ACSM2B 17 80730 2.10578E-4 40365 0 8.49012E-6
16-20570603-C-G p.Arg115Pro missense ACSM2B 11 80730 1.36257E-4 40365 0 6.78182E-5
16-20570607-G-C p.Pro114Ala missense ACSM2B 1 80748 1.23842E-5 40374 0 NA
16-20570613-T-C p.Met112Val missense ACSM2B 16 80830 1.97946E-4 40415 0 2.24258E-4
16-20570613-T-G p.Met112Leu missense ACSM2B 1 80856 1.23677E-5 40428 0 NA
16-20570620-C-T p.Val109Val synonymous ACSM2B 1 80732 1.23867E-5 40366 0 3.99026E-6
16-20570624-C-T p.Arg108His missense ACSM2B 4 80606 4.96241E-5 40303 0 2.79566E-5
16-20570625-G-A p.Arg108Cys missense ACSM2B 3 80594 3.72236E-5 40297 0 5.97372E-4
16-20570633-C-T p.Arg105His missense ACSM2B 1 80344 1.24465E-5 40172 0 1.20149E-5
16-20570634-G-A p.Arg105Cys missense ACSM2B 9 80222 1.12189E-4 40111 0 1.5953E-4
16-20570642-C-A p.Gly102Val missense ACSM2B 1 79850 1.25235E-5 39925 0 NA
16-20570652-CCG-C p.Ser98fs frameshift ACSM2B 1 79182 1.26291E-5 39591 0 NA
16-20570654-G-A p.Ser98Leu missense ACSM2B 5 78994 6.32959E-5 39497 0 6.08273E-4
16-20570655-A-C p.Ser98Ala missense ACSM2B 2 78836 2.53691E-5 39418 0 2.65411E-4
16-20570661-T-C p.Ile96Val missense ACSM2B 70566 73468 0.9605 36734 34069 0.973067
16-20570667-C-T p.Ala94Thr missense ACSM2B 1 78998 1.26585E-5 39499 0 3.19101E-5
16-20570684-T-C p.Glu88Gly missense ACSM2B 1 80072 1.24888E-5 40036 0 4.10018E-6
16-20570686-A-G p.Ser87Ser synonymous ACSM2B 2 80112 2.4965E-5 40056 0 0.00120919
16-20570687-C-T p.Ser87Asn missense ACSM2B 1 80144 1.24775E-5 40072 0 1.22709E-5
16-20570691-G-C p.Leu86Val missense ACSM2B 2 80264 2.49178E-5 40132 0 1.03964E-4
16-20570700-A-T p.Phe83Ile missense ACSM2B 1 80696 1.23922E-5 40348 0 1.21239E-5
16-20570716-CT-C p.Lys77fs frameshift ACSM2B 1 81122 1.23271E-5 40561 0 NA
16-20570722-C-G p.Lys75Asn missense ACSM2B 1 81288 1.23019E-5 40644 0 NA
16-20570725-C-G p.Gly74Gly synonymous ACSM2B 1 81338 1.22944E-5 40669 0 3.18939E-5
16-20570726-C-T p.Gly74Glu missense ACSM2B 1 81364 1.22904E-5 40682 0 NA
16-20570731-C-G p.Val72Val synonymous ACSM2B 1 81382 1.22877E-5 40691 0 NA
16-20570731-C-T p.Val72Val synonymous ACSM2B 1 81384 1.22874E-5 40692 0 NA
16-20570740-C-G c.-31G>C 5_prime_UTR_premature_start_codon_gain ACSM2B 2 81466 2.45501E-5 40733 0 NA
16-20570747-G-A p.Pro67Leu missense ACSM2B 1 81502 1.22696E-5 40751 0 NA
16-20570748-G-C p.Pro67Ala missense ACSM2B 1 81510 1.22684E-5 40755 0 8.57162E-6
16-20570748-G-T p.Pro67Thr missense ACSM2B 1 81512 1.22681E-5 40756 0 NA
16-20570756-A-G p.Leu64Pro missense ACSM2B 10 81366 1.22901E-4 40683 0 0.00595948
16-20570760-G-A p.Arg63* stop_gained ACSM2B 3 81510 3.68053E-5 40755 0 1.27649E-4
16-20570769-C-A p.Ala60Ser missense+splice_region ACSM2B 4 81514 4.90713E-5 40757 0 6.25782E-4
16-20570769-C-T p.Ala60Thr missense+splice_region ACSM2B 3 81514 3.68035E-5 40757 0 NA
16-20570774-G-C c.178-5C>G splice_region ACSM2B 2 81518 2.45345E-5 40759 0 3.19122E-5
16-20570774-G-A c.178-5C>T splice_region ACSM2B 1 81518 1.22672E-5 40759 0 3.99434E-6
16-20570775-G-T c.178-6C>A splice_region ACSM2B 1646 81396 0.0202221 40698 101 0.043338
16-20575983-C-G c.177+8G>C splice_region ACSM2B 5 81656 6.12325E-5 40828 0 3.36797E-5
16-20575988-T-G c.177+3A>C splice_region ACSM2B 1 81672 1.22441E-5 40836 0 3.98918E-6
16-20575995-T-G p.Glu58Ala missense ACSM2B 1 81672 1.22441E-5 40836 0 NA
16-20576010-T-A p.His53Leu missense ACSM2B 3 81640 3.67467E-5 40820 0 8.37788E-6
16-20576015-C-T p.Leu51Leu synonymous ACSM2B 1 81640 1.22489E-5 40820 0 NA
16-20576026-T-C p.Ser48Gly missense ACSM2B 1 81600 1.22549E-5 40800 0 1.19806E-5
16-20576030-A-G p.Phe46Phe synonymous ACSM2B 2 81584 2.45146E-5 40792 0 NA
16-20576039-C-T p.Lys43Lys synonymous ACSM2B 1 81506 1.2269E-5 40753 0 NA
16-20576042-G-C p.Ala42Ala synonymous ACSM2B 1 81476 1.22736E-5 40738 0 4.00811E-6
16-20576045-C-A p.Pro41Pro synonymous ACSM2B 182 81254 0.00223989 40627 0 0.00710553
16-20576045-C-T p.Pro41Pro synonymous ACSM2B 2 81386 2.45743E-5 40693 0 3.37992E-5
16-20576048-C-A p.Val40Val synonymous ACSM2B 11372 72794 0.156222 36397 1474 0.241875
16-20576066-C-G p.Gln34His missense ACSM2B 1 80582 1.24097E-5 40291 0 3.62833E-5
16-20576080-G-C p.Leu30Val missense ACSM2B 1 80312 1.24514E-5 40156 0 3.18715E-5
16-20576106-C-T p.Arg21His missense ACSM2B 207 80994 0.00255574 40497 1 0.00610501
16-20576107-G-A p.Arg21Cys missense ACSM2B 1 81138 1.23247E-5 40569 0 2.51644E-5
16-20576112-G-C p.Ser19Cys missense ACSM2B 1 81280 1.23031E-5 40640 0 NA
16-20576123-A-G p.Gly15Gly synonymous ACSM2B 2 81426 2.45622E-5 40713 0 6.37836E-5
16-20576129-C-T p.Leu13Leu synonymous ACSM2B 1 81510 1.22684E-5 40755 0 NA
16-20576132-G-T p.Thr12Thr synonymous ACSM2B 1 81530 1.22654E-5 40765 0 8.03943E-6
16-20576145-TG-T p.Gln8fs frameshift ACSM2B 3 81612 3.67593E-5 40806 0 NA
16-20576150-T-A p.Lys6Asn missense ACSM2B 2 81640 2.44978E-5 40820 0 5.64261E-5
16-20576154-C-T p.Arg5Gln missense ACSM2B 16 81648 1.95963E-4 40824 0 0.00238379
16-20576155-G-A p.Arg5* stop_gained ACSM2B 2 81660 2.44918E-5 40830 0 3.18593E-5
16-20576161-A-T p.Trp3Arg missense ACSM2B 4 81684 4.89692E-5 40842 0 3.3653E-5