Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-20471442-T-C c.-590T>C 5_prime_UTR_premature_start_codon_gain ACSM2A 79 81706 9.66881E-4 40853 2 0.00213498
16-20471448-G-A p.Leu4Leu synonymous ACSM2A 7 81710 8.56688E-5 40855 0 1.59357E-4
16-20471449-C-T p.Arg5* stop_gained ACSM2A 5 81712 6.11905E-5 40856 0 1.85282E-4
16-20471450-G-A p.Arg5Gln missense ACSM2A 8314 78030 0.106549 39015 513 0.156464
16-20471455-G-A p.Val7Ile missense ACSM2A 18 81698 2.20324E-4 40849 0 3.18654E-4
16-20471455-G-T p.Val7Phe missense ACSM2A 1 81704 1.22393E-5 40852 0 NA
16-20471457-T-C p.Val7Val synonymous ACSM2A 21 81686 2.57082E-4 40843 1 4.14329E-4
16-20471461-G-A p.Gly9Arg missense ACSM2A 1 81674 1.22438E-5 40837 0 6.69266E-5
16-20471480-G-T p.Gly15Val missense ACSM2A 1 81512 1.22681E-5 40756 0 NA
16-20471483-C-G p.Thr16Ser missense ACSM2A 2 81462 2.45513E-5 40731 0 8.36568E-6
16-20471487-G-C p.Gln17His missense ACSM2A 578 81282 0.00711105 40641 18 0.0161301
16-20471493-C-T p.Ser19Ser synonymous ACSM2A 3 81342 3.68813E-5 40671 0 4.01445E-6
16-20471498-G-A p.Arg21His missense ACSM2A 2 81160 2.46427E-5 40580 0 5.04058E-5
16-20471506-T-C p.Tyr24His missense ACSM2A 19 80906 2.3484E-4 40453 0 8.41354E-4
16-20471508-C-G p.Tyr24* stop_gained ACSM2A 12 80840 1.48441E-4 40420 0 2.27242E-4
16-20471524-C-T c.-508C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 80240 1.24626E-5 40120 0 8.45351E-6
16-20471543-GCCAC-G p.His37fs frameshift ACSM2A 1 80518 1.24196E-5 40259 0 NA
16-20471543-GCCA-G p.His37del disruptive_inframe_deletion ACSM2A 5 80516 6.20995E-5 40258 0 3.18654E-5
16-20471545-C-T p.His37Tyr missense ACSM2A 1 80628 1.24026E-5 40314 0 8.0601E-6
16-20471556-G-T p.Val40Val synonymous ACSM2A 18 81144 2.21828E-4 40572 0 0.00243902
16-20471558-C-A p.Pro41Gln missense ACSM2A 1 81270 1.23047E-5 40635 0 4.41129E-5
16-20471558-C-T p.Pro41Leu missense ACSM2A 2 81270 2.46093E-5 40635 0 6.37471E-5
16-20471559-G-A p.Pro41Pro synonymous ACSM2A 2 81314 2.4596E-5 40657 0 3.18573E-5
16-20471559-G-C p.Pro41Pro synonymous ACSM2A 2 81312 2.45966E-5 40656 0 2.40527E-5
16-20471568-T-C p.Phe44Phe synonymous ACSM2A 95 81422 0.00116676 40711 2 0.00910194
16-20471591-A-G p.Asp52Gly missense ACSM2A 2 81634 2.44996E-5 40817 0 8.33931E-6
16-20471595-C-T c.-437C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 81636 1.22495E-5 40818 0 6.78134E-5
16-20471605-A-G p.Met57Val missense ACSM2A 7 81636 8.57465E-5 40818 0 5.96659E-4
16-20476833-C-G c.178-6C>G splice_region ACSM2A 1 81714 1.22378E-5 40857 0 1.19665E-5
16-20476836-C-T c.178-3C>T splice_region ACSM2A 8 81722 9.78929E-5 40861 0 0.00438596
16-20476840-C-T p.Ala60Val missense+splice_region ACSM2A 48 81730 5.873E-4 40865 0 3.18492E-4
16-20476848-C-A p.Arg63Arg synonymous ACSM2A 7 81726 8.56521E-5 40863 0 1.59286E-4
16-20476848-C-T p.Arg63* stop_gained ACSM2A 1 81728 1.22357E-5 40864 0 5.82072E-4
16-20476850-A-T p.Arg63Arg synonymous ACSM2A 1 81746 1.2233E-5 40873 0 NA
16-20476851-C-T p.Leu64Phe missense ACSM2A 3 81750 3.66972E-5 40875 0 0.00173812
16-20476852-T-C p.Leu64Pro missense ACSM2A 25442 78096 0.325779 39048 4494 0.393819
16-20476862-A-C p.Pro67Pro synonymous ACSM2A 2 81792 2.44523E-5 40896 0 NA
16-20476889-G-A p.Gly76Gly synonymous ACSM2A 38 81766 4.64741E-4 40883 0 8.60092E-4
16-20476893-G-A p.Glu78Lys missense ACSM2A 1613 81584 0.019771 40792 15 0.0325
16-20476900-T-G p.Met1? start_lost ACSM2A 1 81760 1.22309E-5 40880 0 NA
16-20476905-A-C p.Asn82His missense ACSM2A 1 81766 1.223E-5 40883 0 NA
16-20476912-G-A p.Arg84Lys missense ACSM2A 17 81766 2.0791E-4 40883 0 7.96267E-6
16-20476914-G-C p.Glu85Gln missense ACSM2A 17 81756 2.07936E-4 40878 0 NA
16-20476917-C-A p.Leu86Met missense ACSM2A 1 81772 1.22291E-5 40886 0 3.29587E-5
16-20476935-C-T p.Gln92* stop_gained ACSM2A 1 81788 1.22267E-5 40894 0 NA
16-20476938-G-A p.Ala93Thr missense ACSM2A 24 81788 2.93442E-4 40894 0 3.18451E-4
16-20476946-C-T c.-311C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 2 81812 2.44463E-5 40906 0 5.64972E-4
16-20476947-G-A p.Val96Ile missense ACSM2A 5 81798 6.11262E-5 40899 0 0.0011325
16-20476954-C-A p.Ser98* stop_gained ACSM2A 2 81790 2.44529E-5 40895 0 3.98168E-6
16-20476954-C-T p.Ser98Leu missense ACSM2A 4 81790 4.89057E-5 40895 0 6.25E-4
16-20476955-G-A p.Ser98Ser synonymous ACSM2A 2 81788 2.44535E-5 40894 0 4.11963E-5
16-20476956-G-C p.Gly99Arg missense ACSM2A 2 81792 2.44523E-5 40896 0 5.67537E-4
16-20476960-C-T p.Ala100Val missense ACSM2A 22 81796 2.68962E-4 40898 0 0.00125
16-20476974-C-T p.Arg105Cys missense ACSM2A 212 81736 0.00259372 40868 0 0.00586062
16-20476975-G-A p.Arg105His missense ACSM2A 1 81754 1.22318E-5 40877 0 1.11487E-4
16-20476983-C-A p.Arg108Ser missense ACSM2A 6 81744 7.33999E-5 40872 0 9.07142E-5
16-20476983-C-T p.Arg108Cys missense ACSM2A 2 81744 2.44666E-5 40872 0 3.2987E-5
16-20476984-G-C p.Arg108Pro missense ACSM2A 14 81734 1.71287E-4 40867 0 6.37024E-4
16-20476986-G-GAAAGAATTAGAATAAAAAGGAAAATATCACTTTAGATTTATTTATATATGTATCTCTATCTATTTAC p.Val109fs frameshift ACSM2A 2 81746 2.4466E-5 40873 1 NA
16-20476988-G-A p.Val109Val synonymous ACSM2A 1 81748 1.22327E-5 40874 0 8.24906E-6
16-20476995-G-A p.Val112Met missense ACSM2A 21 81136 2.58825E-4 40568 0 0.36375
16-20477002-C-T p.Pro114Leu missense ACSM2A 5 81702 6.1198E-5 40851 0 7.96559E-6
16-20477004-C-T p.Arg115* stop_gained ACSM2A 981 81604 0.0120215 40802 43 0.0260426
16-20477005-G-A p.Arg115Gln missense ACSM2A 7 81692 8.56877E-5 40846 0 2.22987E-4
16-20477007-G-C p.Val116Leu missense ACSM2A 2 81692 2.44822E-5 40846 0 3.98286E-6
16-20477008-T-A p.Val116Glu missense ACSM2A 1 81680 1.22429E-5 40840 0 NA
16-20477019-TGGCTGGTGATCCTG-T p.Val122fs frameshift ACSM2A 3 81632 3.67503E-5 40816 0 NA
16-20477021-G-A p.Trp120* stop_gained ACSM2A 332 81574 0.00406992 40787 1 0.00519009
16-20477026-T-C p.Val122Ala missense ACSM2A 1 81542 1.22636E-5 40771 0 NA
16-20477029-T-A p.Ile123Asn missense ACSM2A 1 81526 1.2266E-5 40763 0 1.67367E-5
16-20477036-C-T c.-221C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 2 81448 2.45555E-5 40724 0 3.98998E-6
16-20477043-C-T p.Arg128* stop_gained ACSM2A 3 81406 3.68523E-5 40703 0 3.19652E-5
16-20477049-G-A p.Gly130Ser missense+splice_region ACSM2A 1 81352 1.22923E-5 40676 0 3.18532E-5
16-20477053-G-A c.388+4G>A splice_region ACSM2A 2 81312 2.45966E-5 40656 0 NA
16-20480827-TC-T c.389-6delC splice_region ACSM2A 2 81578 2.45164E-5 40789 0 8.28295E-6
16-20480828-C-A c.389-6C>A splice_region ACSM2A 1 81576 1.22585E-5 40788 0 1.20107E-5
16-20480837-T-C p.Leu131Pro missense ACSM2A 1 81580 1.22579E-5 40790 0 NA
16-20480863-A-T p.Met140Leu missense ACSM2A 3 81604 3.67629E-5 40802 0 3.18512E-5
16-20480870-C-T p.Ser142Phe missense ACSM2A 1 81582 1.22576E-5 40791 0 8.28514E-6
16-20480883-G-T p.Leu146Leu synonymous ACSM2A 1 81588 1.22567E-5 40794 0 3.98756E-6
16-20480886-T-C p.Tyr147Tyr synonymous ACSM2A 2 81584 2.45146E-5 40792 0 NA
16-20480894-A-T p.Gln150Leu missense ACSM2A 1 81556 1.22615E-5 40778 0 NA
16-20480895-G-A p.Gln150Gln synonymous ACSM2A 1 81552 1.22621E-5 40776 0 NA
16-20480905-G-A p.Ala154Thr missense ACSM2A 1 81562 1.22606E-5 40781 0 NA
16-20480922-T-C p.Ala159Ala synonymous ACSM2A 2 81638 2.44984E-5 40819 0 3.18451E-5
16-20480924-G-A p.Gly160Glu missense ACSM2A 1 81646 1.2248E-5 40823 0 3.18552E-5
16-20480942-A-G p.Glu166Gly missense ACSM2A 2 81710 2.44768E-5 40855 0 8.23913E-6
16-20480944-G-A p.Val167Met missense ACSM2A 5 81714 6.1189E-5 40857 0 1.07509E-4
16-20480953-G-A p.Val170Met missense ACSM2A 1 81738 1.22342E-5 40869 0 8.23737E-6
16-20480956-G-A p.Ala171Thr missense ACSM2A 6 81746 7.33981E-5 40873 0 3.58352E-5
16-20480960-C-T p.Ser172Phe missense ACSM2A 1 81762 1.22306E-5 40881 0 NA
16-20480964-A-C p.Glu173Asp missense ACSM2A 1 81762 1.22306E-5 40881 0 1.47321E-4
16-20480966-G-A p.Cys174Tyr missense ACSM2A 3 81776 3.66856E-5 40888 0 3.2649E-4
16-20480968-C-T p.Pro175Ser missense ACSM2A 2 81784 2.44547E-5 40892 0 7.16686E-5
16-20480978-G-T p.Arg178Ile missense ACSM2A 1 81800 1.22249E-5 40900 0 3.18512E-5
16-20480984-A-G p.Lys180Arg missense ACSM2A 1 81810 1.22234E-5 40905 0 3.18532E-5
16-20480988-A-G c.-53A>G 5_prime_UTR_premature_start_codon_gain ACSM2A 1 81804 1.22243E-5 40902 0 NA
16-20481004-A-T p.Ser187Cys missense ACSM2A 1 81830 1.22205E-5 40915 0 NA
16-20481005-G-T p.Ser187Ile missense ACSM2A 1 81828 1.22208E-5 40914 0 5.76549E-5
16-20481006-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ACSM2A 1 81836 1.22196E-5 40918 0 NA
16-20481008-G-A p.Cys188Tyr missense ACSM2A 2 81836 2.44391E-5 40918 0 5.76549E-5
16-20481009-T-C p.Cys188Cys synonymous ACSM2A 59 81752 7.21695E-4 40876 0 3.37749E-4
16-20481011-A-G p.Asp189Gly missense ACSM2A 1 81836 1.22196E-5 40918 0 8.23642E-6
16-20481012-T-C p.Asp189Asp synonymous ACSM2A 35 81834 4.27695E-4 40917 0 3.14548E-4
16-20481014-G-C p.Gly190Ala missense ACSM2A 1 81830 1.22205E-5 40915 0 1.64731E-5
16-20481018-G-T p.Trp191Cys missense ACSM2A 1 81828 1.22208E-5 40914 0 NA
16-20481021-G-A p.Leu192Leu synonymous ACSM2A 1 81828 1.22208E-5 40914 0 NA
16-20481027-C-G p.Phe194Leu missense ACSM2A 6 81814 7.33371E-5 40907 0 6.37674E-5
16-20481039-A-G c.-2A>G 5_prime_UTR_premature_start_codon_gain ACSM2A 1 81794 1.22258E-5 40897 0 NA
16-20481042-G-A c.596+1G>A splice_donor ACSM2A 3 81794 3.66775E-5 40897 0 1.40054E-4
16-20481045-A-G c.596+4A>G splice_region ACSM2A 1 81794 1.22258E-5 40897 0 NA
16-20481049-T-A c.596+8T>A splice_region ACSM2A 1 81798 1.22252E-5 40899 0 4.12031E-5
16-20482133-T-C c.597-5T>C splice_region ACSM2A 10 30598 3.26819E-4 15299 0 0.00114628
16-20482141-T-G p.Tyr200* stop_gained ACSM2A 1 34046 2.9372E-5 17023 0 1.5193E-5
16-20482143-A-G p.Lys201Arg missense ACSM2A 1 35096 2.84933E-5 17548 0 NA
16-20482153-C-G p.His204Gln missense ACSM2A 212 40236 0.00526891 20118 0 0.0103224
16-20482157-G-C p.Asp206His missense ACSM2A 1 42384 2.35938E-5 21192 0 4.51957E-5
16-20482158-A-T p.Asp206Val missense ACSM2A 3 42812 7.00738E-5 21406 0 2.2589E-4
16-20482159-C-A p.Asp206Glu missense ACSM2A 18 43282 4.15877E-4 21641 1 0.00124228
16-20482159-C-T p.Asp206Asp synonymous ACSM2A 1 43284 2.31032E-5 21642 0 0.00125078
16-20482160-G-A p.Val207Ile missense ACSM2A 2 43878 4.55809E-5 21939 0 8.5034E-5
16-20482281-G-T c.*112+1G>T splice_donor ACSM2A 2 73328 2.72747E-5 36664 0 3.1835E-5
16-20482283-G-A c.*112+3G>A splice_region ACSM2A 1 73706 1.35674E-5 36853 0 NA
16-20482288-C-A c.*112+8C>A splice_region ACSM2A 1 74518 1.34196E-5 37259 0 NA
16-20482388-C-T c.597-7C>T splice_region ACSM2A 9 82402 1.09221E-4 41201 0 7.44306E-5
16-20482400-C-G p.Ala201Gly missense ACSM2A 22 82550 2.66505E-4 41275 0 1.51577E-4
16-20482408-A-G p.Thr204Ala missense ACSM2A 1 82702 1.20916E-5 41351 0 NA
16-20482412-A-T p.His205Leu missense ACSM2A 1 82734 1.20869E-5 41367 0 3.18492E-5
16-20482415-A-G p.His206Arg missense ACSM2A 1 82772 1.20814E-5 41386 0 NA
16-20482420-G-A p.Val208Met missense ACSM2A 1 82788 1.2079E-5 41394 0 8.27198E-6
16-20482421-T-A p.Val208Glu missense ACSM2A 1 82782 1.20799E-5 41391 0 3.18552E-5
16-20482422-G-A p.Trp10* stop_gained ACSM2A 1 82798 1.20776E-5 41399 0 NA
16-20482423-G-A p.Trp10* stop_gained ACSM2A 1 82788 1.2079E-5 41394 0 3.98695E-6
16-20482432-A-G p.Ser212Gly missense ACSM2A 1 82886 1.20648E-5 41443 0 1.9938E-5
16-20482444-T-A p.Ser216Thr missense ACSM2A 1 82932 1.20581E-5 41466 0 NA
16-20482456-T-C p.Phe220Leu missense ACSM2A 1 82928 1.20587E-5 41464 0 NA
16-20482463-G-C p.Ser222Thr missense ACSM2A 135 82874 0.00162898 41437 1 8.25458E-4
16-20482464-TG-T p.Thr224fs frameshift ACSM2A 1 82926 1.20589E-5 41463 0 8.28679E-6
16-20482472-G-GATGCTAATGGATCAGTGCTTTTCAATCCTTTAGAGGACAATCC p.Ser225fs frameshift ACSM2A 1 82906 1.20619E-5 41453 0 NA
16-20482502-A-G p.Tyr235Cys missense ACSM2A 5 83014 6.02308E-5 41507 0 5.0813E-4
16-20482518-C-G c.40-4C>G splice_region ACSM2A 5 83058 6.01989E-5 41529 0 5.06073E-4
16-20482519-A-G p.Lys241Glu missense ACSM2A 1 83042 1.20421E-5 41521 0 4.17837E-5
16-20482529-T-A p.Met244Lys missense ACSM2A 2 83068 2.40767E-5 41534 0 8.37072E-6
16-20482539-G-A c.740+1G>A splice_donor ACSM2A 4 83064 4.81556E-5 41532 0 9.55718E-5
16-20482543-G-A c.740+5G>A splice_region ACSM2A 1 83052 1.20406E-5 41526 0 NA
16-20482544-C-T c.740+6C>T splice_region ACSM2A 1 83050 1.20409E-5 41525 0 NA
16-20482858-T-C p.Gly247Gly splice_region+synonymous ACSM2A 1 83206 1.20184E-5 41603 0 NA
16-20482895-A-G p.Ile260Val missense ACSM2A 5 83344 5.99923E-5 41672 0 3.18451E-5
16-20482896-T-C p.Ile260Thr missense ACSM2A 2 83342 2.39975E-5 41671 0 6.25E-4
16-20482901-G-C p.Asp262His missense ACSM2A 1 83354 1.1997E-5 41677 0 NA
16-20482913-A-C p.Ile266Leu missense ACSM2A 8 83368 9.59601E-5 41684 0 1.27397E-4
16-20482919-A-G p.Asn268Asp missense ACSM2A 3 83376 3.59816E-5 41688 0 5.76815E-5
16-20482920-A-G p.Asn268Ser missense ACSM2A 4 83378 4.79743E-5 41689 0 1.64802E-5
16-20482927-G-C p.Leu270Phe missense ACSM2A 53 83380 6.35644E-4 41690 0 0.00375
16-20482928-T-G p.Cys271Gly missense ACSM2A 75 83356 8.99755E-4 41678 1 0.00654582
16-20482934-CT-C p.Met274fs frameshift ACSM2A 6 83390 7.19511E-5 41695 0 3.18451E-5
16-20482943-C-A p.Pro276Thr missense ACSM2A 1 83396 1.1991E-5 41698 0 5.17034E-5
16-20482943-C-G p.Pro276Ala missense ACSM2A 1 83396 1.1991E-5 41698 0 NA
16-20482948-G-A p.Trp277* stop_gained ACSM2A 3 83388 3.59764E-5 41694 0 8.23995E-6
16-20482949-G-T p.Ala278Ser missense ACSM2A 7 83388 8.39449E-5 41694 0 5.03525E-4
16-20482952-T-C p.Leu279Leu synonymous ACSM2A 1 83386 1.19924E-5 41693 0 NA
16-20482959-C-T p.Ala281Val missense ACSM2A 3 83386 3.59773E-5 41693 0 6.25E-4
16-20482960-A-G p.Ala281Ala synonymous ACSM2A 1 83384 1.19927E-5 41692 0 NA
16-20482961-T-C p.Cys282Arg missense ACSM2A 1 83388 1.19921E-5 41694 0 3.97772E-6
16-20482969-T-C p.Phe284Phe synonymous ACSM2A 1 83378 1.19936E-5 41689 0 NA
16-20482970-G-C p.Val285Leu missense ACSM2A 1 83372 1.19944E-5 41686 0 8.24974E-6
16-20482973-C-T p.His286Tyr missense ACSM2A 1 83370 1.19947E-5 41685 0 1.19379E-5
16-20482985-A-C p.Lys290Gln missense ACSM2A 1 83364 1.19956E-5 41682 0 NA
16-20482993-C-A p.Asp292Glu missense ACSM2A 1 83360 1.19962E-5 41680 0 1.66622E-5
16-20483000-G-T p.Val295Phe missense ACSM2A 2 83354 2.3994E-5 41677 0 NA
16-20483006-C-T p.Leu297Leu synonymous ACSM2A 1 83346 1.19982E-5 41673 0 NA
16-20483011-G-A p.Lys298Lys splice_region+synonymous ACSM2A 1 83308 1.20036E-5 41654 0 4.05966E-6
16-20483016-G-A c.894+5G>A splice_region ACSM2A 1 83270 1.20091E-5 41635 0 3.18573E-5
16-20486702-A-G p.Ile305Val missense ACSM2A 1 80754 1.23833E-5 40377 0 0.00585374
16-20486718-G-A p.Gly310Asp missense ACSM2A 1 81562 1.22606E-5 40781 0 NA
16-20486720-G-GC p.Ile313fs frameshift ACSM2A 1 81582 1.22576E-5 40791 0 NA
16-20486725-C-T p.Pro312Pro synonymous ACSM2A 6 81594 7.35348E-5 40797 0 5.74053E-4
16-20486732-T-A p.Tyr315Asn missense ACSM2A 1 81572 1.22591E-5 40786 0 3.18451E-5
16-20486735-C-T p.Arg316Trp missense ACSM2A 1 81554 1.22618E-5 40777 0 1.48368E-4
16-20486736-G-A p.Arg316Gln missense ACSM2A 4 81550 4.90497E-5 40775 0 5.17718E-5
16-20486736-G-T p.Arg316Leu missense ACSM2A 1 81546 1.2263E-5 40773 0 NA
16-20486738-A-C p.Met317Leu missense ACSM2A 2 81534 2.45296E-5 40767 0 8.24321E-6
16-20486766-G-C c.974+3G>C splice_region ACSM2A 2 81162 2.46421E-5 40581 0 6.25E-4
16-20486768-T-C c.974+5T>C splice_region ACSM2A 5 81098 6.16538E-5 40549 0 1.19538E-5
16-20486964-T-G c.975-8T>G splice_region ACSM2A 2 83266 2.40194E-5 41633 0 6.25E-4
16-20486966-C-T c.975-6C>T splice_region ACSM2A 2 83260 2.40211E-5 41630 0 3.98241E-6
16-20486980-TC-T p.His330fs frameshift ACSM2A 1 83260 1.20106E-5 41630 0 1.19428E-5
16-20486980-T-TC p.His330fs frameshift ACSM2A 1 83258 1.20109E-5 41629 0 NA
16-20486983-C-T p.Pro329Leu missense ACSM2A 1 83272 1.20088E-5 41636 0 8.23968E-6
16-20486999-C-T p.Cys334Cys synonymous ACSM2A 94 83278 0.00112875 41639 0 0.00146786
16-20487000-G-A p.Val335Ile missense ACSM2A 23 83276 2.7619E-4 41638 0 2.22958E-4
16-20487003-A-C p.Thr336Pro missense ACSM2A 1 83284 1.20071E-5 41642 0 NA
16-20487009-G-A p.Gly338Arg missense ACSM2A 1 83282 1.20074E-5 41641 0 NA
16-20487011-G-C p.Gly338Gly synonymous ACSM2A 1 83280 1.20077E-5 41640 0 4.94242E-5
16-20487012-G-T p.Glu339* stop_gained ACSM2A 1 83280 1.20077E-5 41640 0 4.94234E-5
16-20487016-C-A p.Ser340Tyr missense ACSM2A 5 83278 6.00399E-5 41639 0 4.37501E-5
16-20487017-C-T p.Ser340Ser synonymous ACSM2A 5 83276 6.00413E-5 41638 0 5.76635E-5
16-20487018-C-T p.Leu341Phe missense ACSM2A 1 83272 1.20088E-5 41636 0 NA
16-20487019-T-C p.Leu341Pro missense ACSM2A 1 83266 1.20097E-5 41633 0 NA
16-20487033-C-T p.Leu346Leu synonymous ACSM2A 406 83252 0.00487676 41626 5 0.00971585
16-20487038-G-A p.Glu347Glu synonymous ACSM2A 1 83270 1.20091E-5 41635 0 5.03525E-4
16-20487041-C-T p.Asn348Asn synonymous ACSM2A 1 83272 1.20088E-5 41636 0 NA
16-20487058-G-T p.Gly354Val missense ACSM2A 2 83248 2.40246E-5 41624 0 9.55414E-5
16-20487065-C-T p.Asp356Asp synonymous ACSM2A 4 83256 4.80446E-5 41628 0 1.98881E-5
16-20487069-C-T p.Arg358* stop_gained ACSM2A 9 83242 1.08118E-4 41621 0 0.00100705
16-20487069-C-G p.Arg358Gly missense ACSM2A 2 83244 2.40258E-5 41622 0 1.98896E-5
16-20487070-G-C p.Arg358Pro missense ACSM2A 4 83242 4.80527E-5 41621 0 3.295E-5
16-20487070-G-A p.Arg358Gln missense ACSM2A 2 83242 2.40263E-5 41621 0 1.6475E-5
16-20487076-C-T p.Ser360Phe missense ACSM2A 3 83088 3.61063E-5 41544 0 0.00251762
16-20487086-G-A p.Gln363Gln synonymous ACSM2A 4 83224 4.80631E-5 41612 0 3.29576E-5
16-20487088-C-G p.Thr364Arg missense ACSM2A 1 83230 1.20149E-5 41615 0 6.36983E-5
16-20487093-A-G p.Thr366Ala missense+splice_region ACSM2A 1 83232 1.20146E-5 41616 0 NA
16-20487094-C-T p.Thr366Met missense+splice_region ACSM2A 42 83222 5.04674E-4 41611 0 4.03791E-4
16-20487095-G-A p.Thr366Thr splice_region+synonymous ACSM2A 1 83224 1.20158E-5 41612 0 3.18634E-5
16-20487096-G-C c.1098+1G>C splice_donor ACSM2A 1 83224 1.20158E-5 41612 0 NA
16-20487102-G-T c.1098+7G>T splice_region ACSM2A 1 83218 1.20166E-5 41609 0 NA
16-20487103-T-C c.1098+8T>C splice_region ACSM2A 1 83218 1.20166E-5 41609 0 7.97747E-6
16-20487979-G-A n.1291G>A splice_region ACSM2A 1 40382 2.47635E-5 20191 0 NA
16-20487986-G-C n.1293+5G>C splice_region ACSM2A 1 42320 2.36295E-5 21160 0 NA
16-20487988-G-C n.1293+7G>C splice_region ACSM2A 2 42872 4.66505E-5 21436 0 4.78225E-4
16-20487989-G-A n.1293+8G>A splice_region ACSM2A 4 43124 9.27558E-5 21562 0 4.14567E-4
16-20488694-T-C p.Leu368Leu synonymous ACSM2A 1 79130 1.26374E-5 39565 0 4.56729E-6
16-20488696-A-G p.Leu368Leu synonymous ACSM2A 25006 77456 0.322841 38728 4378 0.37496
16-20488702-C-T p.Cys370Cys synonymous ACSM2A 1 79440 1.25881E-5 39720 0 NA
16-20488704-T-C p.Met371Thr missense ACSM2A 1 79520 1.25755E-5 39760 0 NA
16-20488704-T-A p.Met371Lys missense ACSM2A 1 79520 1.25755E-5 39760 0 NA
16-20488708-T-C p.Val372Val synonymous ACSM2A 1 79558 1.25694E-5 39779 0 NA
16-20488715-A-G p.Thr375Ala missense ACSM2A 2 79702 2.50935E-5 39851 0 3.48736E-5
16-20488716-C-T p.Thr375Ile missense ACSM2A 1 79764 1.2537E-5 39882 0 NA
16-20488731-C-T p.Pro380Leu missense ACSM2A 2 80622 2.48071E-5 40311 0 1.68552E-5
16-20488732-A-G p.Pro380Pro synonymous ACSM2A 1 80742 1.23851E-5 40371 0 4.20801E-6
16-20488741-G-T p.Met383Ile missense ACSM2A 2 81244 2.46172E-5 40622 0 3.18573E-5
16-20488746-C-T p.Thr385Met missense ACSM2A 4 81334 4.91799E-5 40667 0 6.25E-4
16-20488747-G-T p.Thr385Thr synonymous ACSM2A 2 81382 2.45755E-5 40691 0 1.56631E-4
16-20488754-T-C p.Ser388Pro missense ACSM2A 2 81540 2.45278E-5 40770 0 3.18593E-5
16-20488755-C-T p.Ser388Phe missense ACSM2A 1 81540 1.22639E-5 40770 0 4.34892E-6
16-20488763-G-A p.Asp391Asn missense ACSM2A 1 81688 1.22417E-5 40844 0 NA
16-20488776-G-T c.1179+5G>T splice_region ACSM2A 6 81540 7.35835E-5 40770 0 8.6411E-6
16-20488779-C-G c.1179+8C>G splice_region ACSM2A 1 81460 1.2276E-5 40730 0 8.84956E-6
16-20488779-C-T c.1179+8C>T splice_region ACSM2A 3 81460 3.68279E-5 40730 1 3.4503E-4
16-20489890-T-C c.1180-8T>C splice_region ACSM2A 3 83034 3.61298E-5 41517 0 6.25E-4
16-20489896-A-C c.1180-2A>C splice_acceptor ACSM2A 3 83084 3.6108E-5 41542 0 9.55414E-5
16-20489898-A-C p.Ile394Leu missense+splice_region ACSM2A 1 83098 1.2034E-5 41549 0 1.65681E-5
16-20489899-T-G p.Ile394Ser missense+splice_region ACSM2A 3 83106 3.60985E-5 41553 0 3.58609E-5
16-20489906-T-C p.Asp396Asp synonymous ACSM2A 1 83104 1.20331E-5 41552 0 NA
16-20489911-AG-A p.Gly399fs frameshift ACSM2A 1 83110 1.20322E-5 41555 0 NA
16-20489913-G-A p.Gly399Ser missense ACSM2A 1 83108 1.20325E-5 41554 0 3.98289E-6
16-20489915-C-T p.Gly399Gly synonymous ACSM2A 2 83106 2.40657E-5 41553 0 7.96546E-6
16-20489918-C-T p.Asn400Asn synonymous ACSM2A 3 83132 3.60872E-5 41566 0 3.58392E-5
16-20489919-G-A p.Val401Ile missense ACSM2A 22 83124 2.64665E-4 41562 0 3.50388E-4
16-20489924-G-GC p.Gly405fs frameshift ACSM2A 2 83118 2.40622E-5 41559 0 8.26337E-6
16-20489924-GC-G p.Gly405fs frameshift ACSM2A 2 83132 2.40581E-5 41566 0 3.18512E-5
16-20489925-C-T p.Pro403Ser missense ACSM2A 1 83132 1.20291E-5 41566 0 8.26351E-6
16-20489929-C-T p.Pro404Leu missense ACSM2A 10 83158 1.20253E-4 41579 0 9.0843E-5
16-20489929-C-A p.Pro404His missense ACSM2A 6 83160 7.21501E-5 41580 0 1.91095E-4
16-20489930-C-T p.Pro404Pro synonymous ACSM2A 49 83156 5.89254E-4 41578 0 0.0025683
16-20489935-C-T p.Thr406Ile missense ACSM2A 4 83184 4.80862E-5 41592 0 8.25777E-6
16-20489936-A-T p.Thr406Thr synonymous ACSM2A 1 83190 1.20207E-5 41595 0 1.65153E-5
16-20489949-G-A p.Gly411Ser missense ACSM2A 2 83210 2.40356E-5 41605 0 NA
16-20489964-C-A p.Pro416Thr missense ACSM2A 1 83206 1.20184E-5 41603 0 NA
16-20489966-C-T p.Pro416Pro synonymous ACSM2A 5 83204 6.00933E-5 41602 1 1.65256E-5
16-20489973-C-A p.Pro419Thr missense ACSM2A 2 83192 2.40408E-5 41596 0 6.37024E-5
16-20489974-C-T p.Pro419Leu missense ACSM2A 3 83188 3.60629E-5 41594 1 3.9827E-6
16-20489979-G-C p.Gly421Arg missense ACSM2A 2 83152 2.40523E-5 41576 0 7.96737E-6
16-20489984-C-T p.Ile422Ile synonymous ACSM2A 1 83120 1.20308E-5 41560 0 NA
16-20491903-C-T p.Pro430Pro synonymous ACSM2A 2 81548 2.45254E-5 40774 0 6.25E-4
16-20491904-G-A p.Asp431Asn missense ACSM2A 1 81540 1.22639E-5 40770 0 4.12419E-5
16-20491921-C-T p.Asn436Asn synonymous ACSM2A 1 81414 1.22829E-5 40707 0 1.07527E-4
16-20491926-G-A p.Arg438Gln missense ACSM2A 66 80176 8.23189E-4 40088 1 0.0161373
16-20491943-C-T p.Leu444Phe missense ACSM2A 1 80888 1.23628E-5 40444 0 8.26583E-6
16-20491953-G-A p.Arg447Gln missense ACSM2A 1 80158 1.24754E-5 40079 0 0.00181598
16-20491990-G-A p.Met459Ile missense ACSM2A 1 66848 1.49593E-5 33424 0 2.88284E-4
16-20492000-A-G p.Asn463Asp missense ACSM2A 1702 13096 0.129963 6548 414 0.888274
16-20492009-A-G p.Ile466Val missense ACSM2A 1 71230 1.4039E-5 35615 0 0.00435323
16-20492143-G-A c.1410-1G>A splice_acceptor ACSM2A 1 81826 1.22211E-5 40913 0 NA
16-20492144-G-T p.Gly470Gly splice_region+synonymous ACSM2A 3 81820 3.66659E-5 40910 0 4.94527E-5
16-20492148-C-T p.Arg472Trp missense ACSM2A 1 81800 1.22249E-5 40900 0 9.88989E-5
16-20492148-C-G p.Arg472Gly missense ACSM2A 2 81808 2.44475E-5 40904 0 NA
16-20492149-G-C p.Arg472Pro missense ACSM2A 1 81808 1.22237E-5 40904 0 7.96483E-6
16-20492157-C-T p.Pro475Ser missense ACSM2A 1 81804 1.22243E-5 40902 0 7.96381E-6
16-20492157-C-A p.Pro475Thr missense ACSM2A 1 81804 1.22243E-5 40902 0 NA
16-20492158-C-A p.Pro475His missense ACSM2A 1 81802 1.22246E-5 40901 0 2.78738E-5
16-20492161-C-T p.Ser476Leu missense ACSM2A 1 81810 1.22234E-5 40905 0 5.7673E-5
16-20492162-G-A p.Ser476Ser synonymous ACSM2A 3 81812 3.66694E-5 40906 0 4.11916E-5
16-20492184-G-A p.Glu484Lys missense ACSM2A 1 81762 1.22306E-5 40881 0 6.43211E-4
16-20492193-G-T p.Ala487Ser missense ACSM2A 4 81810 4.88938E-5 40905 0 1.64769E-5
16-20492193-G-A p.Ala487Thr missense ACSM2A 1 81820 1.2222E-5 40910 0 NA
16-20492206-C-T p.Thr491Met missense ACSM2A 8 81762 9.7845E-5 40881 0 6.25E-4
16-20492207-G-A p.Thr491Thr synonymous ACSM2A 45 81738 5.5054E-4 40869 0 0.00369974
16-20492214-A-C p.Ile494Leu missense ACSM2A 1 81762 1.22306E-5 40881 0 NA
16-20492214-A-T p.Ile494Phe missense ACSM2A 2 81756 2.4463E-5 40878 0 0.00116009
16-20492228-C-T p.Asp498Asp synonymous ACSM2A 11 81742 1.3457E-4 40871 0 3.82555E-4
16-20492232-G-A p.Val500Ile missense ACSM2A 1 81748 1.22327E-5 40874 0 6.37836E-5
16-20492235-C-T p.Arg501* stop_gained ACSM2A 6 81736 7.34071E-5 40868 0 8.26214E-5
16-20492235-C-G p.Arg501Gly missense ACSM2A 1 81744 1.22333E-5 40872 0 1.27624E-4
16-20492250-G-A c.1509+7G>A splice_region ACSM2A 29 81644 3.55201E-4 40822 0 0.00125
16-20492330-C-T n.1525C>T splice_region ACSM2A 1 75990 1.31596E-5 37995 0 NA
16-20492330-C-A n.1525C>A splice_region ACSM2A 1 75990 1.31596E-5 37995 0 NA
16-20492469-G-C n.1910G>C splice_region ACSM2A 1 38696 2.58425E-5 19348 0 NA
16-20494380-G-A p.Val504Met missense+splice_region ACSM2A 1 83396 1.1991E-5 41698 0 NA
16-20494383-G-A p.Val505Met missense ACSM2A 1 83400 1.19904E-5 41700 0 NA
16-20494389-G-A p.Ala507Thr missense ACSM2A 2 83402 2.39802E-5 41701 0 8.23764E-6
16-20494392-T-C p.Phe508Leu missense ACSM2A 1 83406 1.19895E-5 41703 0 3.97668E-6
16-20494395-G-C p.Val509Leu missense ACSM2A 1 83400 1.19904E-5 41700 0 2.47113E-5
16-20494399-T-C p.Val510Ala missense ACSM2A 7 83410 8.39228E-5 41705 0 1.23554E-4
16-20494408-C-T p.Ser513Leu missense ACSM2A 9151 83244 0.10993 41622 560 0.214375
16-20494409-G-A p.Ser513Ser synonymous ACSM2A 7 83396 8.39369E-5 41698 0 9.56511E-5
16-20494409-G-T p.Ser513Ser synonymous ACSM2A 1 83396 1.1991E-5 41698 0 NA
16-20494418-G-A p.Leu516Leu synonymous ACSM2A 21 83382 2.51853E-4 41691 1 5.03525E-4
16-20494428-C-A p.Pro520Thr missense ACSM2A 1 83384 1.19927E-5 41692 0 NA
16-20494429-C-T p.Pro520Leu missense ACSM2A 1 83384 1.19927E-5 41692 0 3.97633E-6
16-20494432-A-T p.Glu521Val missense ACSM2A 1 83388 1.19921E-5 41694 0 NA
16-20494446-G-A p.Glu526Lys missense ACSM2A 17 83388 2.03866E-4 41694 0 2.88279E-4
16-20494448-G-A p.Glu526Glu synonymous ACSM2A 8 83392 9.59325E-5 41696 0 3.97636E-5
16-20494452-C-T p.Gln528* stop_gained ACSM2A 1 83390 1.19918E-5 41695 0 3.97636E-6
16-20494457-G-T p.Gln529His missense ACSM2A 1 83390 1.19918E-5 41695 0 NA
16-20494466-G-A p.Lys532Lys synonymous ACSM2A 1 83378 1.19936E-5 41689 0 NA
16-20494477-C-A p.Ala536Asp missense ACSM2A 1 83370 1.19947E-5 41685 0 7.9538E-6
16-20494479-C-G p.Pro537Ala missense ACSM2A 4 83374 4.79766E-5 41687 0 5.03525E-4
16-20494482-T-C p.Tyr538His missense ACSM2A 2 83368 2.399E-5 41684 0 8.23845E-6
16-20494484-C-T p.Tyr538Tyr synonymous ACSM2A 1 83366 1.19953E-5 41683 0 8.23873E-6
16-20494491-C-T p.Pro541Ser missense ACSM2A 3 83356 3.59902E-5 41678 0 4.77445E-5
16-20494497-A-G p.Lys543Glu missense+splice_region ACSM2A 1 83354 1.1997E-5 41677 0 3.9794E-6
16-20494501-T-G c.1629+2T>G splice_donor ACSM2A 4 83342 4.7995E-5 41671 0 1.64864E-5
16-20497897-T-G p.Ile544Arg missense+splice_region ACSM2A 1 83352 1.19973E-5 41676 0 NA
16-20497913-C-A p.Asn549Lys missense ACSM2A 1 83378 1.19936E-5 41689 0 NA
16-20497916-G-A p.Leu550Leu synonymous ACSM2A 71 83388 8.51441E-4 41694 0 0.00114635
16-20497925-T-C p.Thr553Thr synonymous ACSM2A 1 83404 1.19898E-5 41702 0 8.23669E-6
16-20497944-C-T p.Arg560* stop_gained ACSM2A 27 83406 3.23718E-4 41703 0 0.00146487
16-20497945-G-A p.Arg560Gln missense ACSM2A 3 83412 3.5966E-5 41706 0 6.36983E-5
16-20497947-G-A p.Ala561Thr missense ACSM2A 2 83414 2.39768E-5 41707 0 6.25E-4
16-20497948-C-A p.Ala561Asp missense ACSM2A 1 83412 1.19887E-5 41706 0 7.95286E-6
16-20497956-C-T p.Arg564* stop_gained ACSM2A 15 83412 1.7983E-4 41706 0 0.00251762
16-20497962-A-G p.Lys566Glu missense ACSM2A 2 83410 2.39779E-5 41705 0 NA
16-20497964-G-A p.Lys566Lys synonymous ACSM2A 1 83408 1.19893E-5 41704 0 3.18451E-5
16-20497976-G-T p.Met570Ile missense ACSM2A 1 83416 1.19881E-5 41708 0 3.97652E-6
16-20497979-C-T p.Ser571Ser synonymous ACSM2A 14 83412 1.67842E-4 41706 0 3.50408E-4
16-20497979-C-A p.Ser571Ser synonymous ACSM2A 1 83412 1.19887E-5 41706 0 NA
16-20497980-G-A p.Gly572Arg missense ACSM2A 1 83412 1.19887E-5 41706 0 7.41375E-5
16-20497981-GA-G p.Ala574fs frameshift ACSM2A 22 83410 2.63757E-4 41705 0 5.03525E-4
16-20497986-G-T p.Ala574Ser missense ACSM2A 1 83408 1.19893E-5 41704 0 7.95317E-6
16-20497989-C-T p.Arg575Cys missense ACSM2A 2 83402 2.39802E-5 41701 0 NA
16-20497990-G-A p.Arg575His missense ACSM2A 1 83404 1.19898E-5 41702 0 1.59072E-5
16-20497993-C-T p.Ala576Val missense ACSM2A 5 83402 5.99506E-5 41701 0 5.03525E-4
16-20497993-C-A p.Ala576Glu missense ACSM2A 1 83402 1.19901E-5 41701 0 3.18552E-5
16-20497994-G-A p.Ala576Ala synonymous ACSM2A 7 83402 8.39308E-5 41701 0 1.59256E-4
16-20497995-C-T p.Gln577* stop_gained ACSM2A 4 83400 4.79616E-5 41700 0 6.37064E-5
16-20498103-CATGAAT-C c.*106_*111delGAATAT splice_region ACSM2A 2 81492 2.45423E-5 40746 0 NA
16-20498112-A-C c.*112A>C splice_region ACSM2A 1 80460 1.24285E-5 40230 0 NA