Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-148602339-C-T c.-383C>T 5_prime_UTR_premature_start_codon_gain ACVR2A 3 12516 2.39693E-4 6258 0 NA
2-148602484-G-C c.-238G>C 5_prime_UTR_premature_start_codon_gain ACVR2A 1 45876 2.17979E-5 22938 0 NA
2-148602498-T-G c.-224T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 1 48446 2.06415E-5 24223 0 NA
2-148602517-A-G c.-205A>G 5_prime_UTR_premature_start_codon_gain ACVR2A 1 52454 1.90643E-5 26227 0 NA
2-148602530-G-T c.-192G>T 5_prime_UTR_premature_start_codon_gain ACVR2A 3 55094 5.44524E-5 27547 0 0.0010855
2-148602537-T-G c.-185T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 31 57576 5.38419E-4 28788 0 9.43931E-5
2-148602563-G-T c.-159G>T 5_prime_UTR_premature_start_codon_gain ACVR2A 1 59432 1.6826E-5 29716 0 NA
2-148602582-T-G c.-140T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 1 63056 1.58589E-5 31528 0 0.00164474
2-148602585-T-G c.-137T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 17 62794 2.70727E-4 31397 0 1.54131E-4
2-148602586-T-G c.-136T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 2 62676 3.19101E-5 31338 0 NA
2-148602596-T-G c.-126T>G 5_prime_UTR_premature_start_codon_gain ACVR2A 2 61202 3.26787E-5 30601 0 NA
2-148602597-G-T c.-125G>T 5_prime_UTR_premature_start_codon_gain ACVR2A 12 50616 2.37079E-4 25308 0 0.084861
2-148602600-C-T c.-122C>T 5_prime_UTR_premature_start_codon_gain ACVR2A 12 51790 2.31705E-4 25895 0 0.0350392
2-148602638-A-G c.-79-5A>G splice_region ACVR2A 1 76776 1.30249E-5 38388 0 NA
2-148602640-C-T c.-79-3C>T splice_region ACVR2A 3 77362 3.87787E-5 38681 0 NA
2-148602640-CAGG-C c.-78_-76delAGG splice_region ACVR2A 1 77362 1.29262E-5 38681 0 NA
2-148602648-T-C c.-74T>C 5_prime_UTR_premature_start_codon_gain ACVR2A 1 78996 1.26589E-5 39498 0 NA
2-148602681-C-G c.-41C>G 5_prime_UTR_premature_start_codon_gain ACVR2A 1 81740 1.22339E-5 40870 0 7.9825E-6
2-148602698-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain ACVR2A 2 81694 2.44816E-5 40847 0 NA
2-148602707-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ACVR2A 1 81562 1.22606E-5 40781 0 8.28926E-6
2-148602728-G-A p.Ala3Thr missense ACVR2A 1 81346 1.22932E-5 40673 0 NA
2-148602731-G-A p.Ala4Thr missense ACVR2A 1 81244 1.23086E-5 40622 0 NA
2-148602737-A-G p.Lys6Glu missense ACVR2A 1 81128 1.23262E-5 40564 0 8.29669E-6
2-148602738-A-AGTTGGC p.Leu7_Ala8dup disruptive_inframe_insertion ACVR2A 1 81166 1.23204E-5 40583 0 NA
2-148602743-G-A p.Ala8Thr missense ACVR2A 1 81016 1.23432E-5 40508 0 NA
2-148602748-T-A p.Phe9Leu missense ACVR2A 1 80954 1.23527E-5 40477 0 NA
2-148602781-G-T c.55+5G>T splice_region ACVR2A 1 79634 1.25575E-5 39817 0 8.4052E-6
2-148653864-T-G c.56-6T>G splice_region ACVR2A 2 82984 2.4101E-5 41492 0 NA
2-148653884-A-G p.Arg24Gly missense ACVR2A 1 83084 1.2036E-5 41542 0 NA
2-148653889-A-C p.Ser25Ser synonymous ACVR2A 1 83094 1.20346E-5 41547 0 NA
2-148653932-G-T n.191-1G>T splice_acceptor ACVR2A 1 83204 1.20187E-5 41602 0 NA
2-148653943-T-C p.Asn43Asn synonymous ACVR2A 1 83226 1.20155E-5 41613 0 NA
2-148653953-G-A p.Val47Ile missense ACVR2A 1 83230 1.20149E-5 41615 0 NA
2-148653955-T-C p.Val47Val synonymous ACVR2A 1 83232 1.20146E-5 41616 0 8.23954E-6
2-148653958-A-T p.Glu48Asp missense ACVR2A 3 83226 3.60464E-5 41613 0 8.2394E-6
2-148653960-C-T p.Pro49Leu missense ACVR2A 3 83232 3.60438E-5 41616 0 1.59147E-5
2-148653961-G-T c.-178G>T 5_prime_UTR_premature_start_codon_gain ACVR2A 1 83234 1.20143E-5 41617 0 0.0025
2-148653987-G-A p.Arg58Gln missense ACVR2A 1 83282 1.20074E-5 41641 0 NA
2-148654026-T-C p.Ile71Thr missense ACVR2A 1 83274 1.20085E-5 41637 0 8.24008E-6
2-148654054-G-A p.Leu80Leu synonymous ACVR2A 1 83198 1.20195E-5 41599 0 3.29712E-5
2-148654061-A-G p.Ile83Val missense ACVR2A 1 83168 1.20239E-5 41584 0 3.97953E-6
2-148654069-C-T p.Cys85Cys synonymous ACVR2A 1 83122 1.20305E-5 41561 0 3.18552E-5
2-148654081-A-C c.263+4A>C splice_region ACVR2A 1 83030 1.20438E-5 41515 0 NA
2-148657022-TA-T c.264-4delA splice_region ACVR2A 1 82712 1.20901E-5 41356 0 NA
2-148657030-T-C p.Thr89Thr synonymous ACVR2A 2 82872 2.41336E-5 41436 0 NA
2-148657031-G-A p.Asp90Asn missense ACVR2A 1 82892 1.20639E-5 41446 0 4.02376E-6
2-148657033-T-C c.-55T>C 5_prime_UTR_premature_start_codon_gain ACVR2A 1 82900 1.20627E-5 41450 0 NA
2-148657040-GA-G p.Asp96fs frameshift ACVR2A 1 82920 1.20598E-5 41460 0 4.07824E-6
2-148657051-C-T p.Asp96Asp synonymous ACVR2A 1 83000 1.20482E-5 41500 0 6.3804E-5
2-148657096-T-C p.Asn111Asn synonymous ACVR2A 1 83164 1.20244E-5 41582 0 8.27486E-6
2-148657098-A-G p.Glu112Gly missense ACVR2A 1 83158 1.20253E-5 41579 0 3.18695E-5
2-148657099-A-G p.Glu112Glu synonymous ACVR2A 1 83160 1.2025E-5 41580 0 3.18715E-5
2-148657112-T-A p.Phe117Ile missense ACVR2A 52 83152 6.25361E-4 41576 0 0.0012987
2-148657117-G-A p.Pro118Pro synonymous ACVR2A 27530 82640 0.333132 41320 4668 0.4375
2-148657118-G-A p.Glu119Lys missense ACVR2A 1 83152 1.20262E-5 41576 0 NA
2-148657133-C-CTGACTACT p.Gln124fs frameshift ACVR2A 1 83158 1.20253E-5 41579 0 NA
2-148657305-T-C c.374-8T>C splice_region ACVR2A 2 83200 2.40385E-5 41600 0 NA
2-148657308-C-T c.374-5C>T splice_region ACVR2A 2 83210 2.40356E-5 41605 0 9.56389E-5
2-148657352-A-G p.Asn138Ser missense ACVR2A 1 83290 1.20062E-5 41645 0 NA
2-148657373-T-G p.Val145Gly missense ACVR2A 1 83296 1.20054E-5 41648 0 3.18613E-5
2-148657381-A-G p.Met148Val missense ACVR2A 2 83272 2.40177E-5 41636 0 7.95824E-6
2-148657382-T-C p.Met148Thr missense ACVR2A 2 83278 2.40159E-5 41639 0 3.18593E-5
2-148657386-A-T p.Leu149Phe missense ACVR2A 5 83280 6.00384E-5 41640 0 3.29582E-5
2-148657391-C-T p.Ala151Val missense ACVR2A 3 83282 3.60222E-5 41641 0 7.41522E-5
2-148657392-G-A p.Ala151Ala synonymous ACVR2A 2 83278 2.40159E-5 41639 0 9.56084E-5
2-148657399-G-A p.Val154Ile missense ACVR2A 3 83276 3.60248E-5 41638 0 3.18674E-5
2-148657404-T-C p.Ile155Ile synonymous ACVR2A 2 83276 2.40165E-5 41638 0 8.23954E-6
2-148657423-A-G p.Arg162Gly missense ACVR2A 14 83288 1.68091E-4 41644 0 9.15212E-5
2-148657424-G-A p.Arg162Lys missense ACVR2A 1 83282 1.20074E-5 41641 0 8.24171E-6
2-148657425-G-A p.Arg162Arg synonymous ACVR2A 1 83280 1.20077E-5 41640 0 6.3743E-5
2-148657451-T-A p.Val171Glu missense ACVR2A 1 83278 1.2008E-5 41639 0 3.18532E-5
2-148657452-A-C p.Val171Val synonymous ACVR2A 1 83276 1.20083E-5 41638 0 8.259E-6
2-148657457-T-C p.Val173Ala missense ACVR2A 1 83282 1.20074E-5 41641 0 NA
2-148657468-G-GACCCAGGACCACCCCCACCTTCTCCATTAC c.528+1_528+2insACCCAGGACCACCCCCACCTTCTCCATTAC splice_donor ACVR2A 4 83272 4.80354E-5 41636 2 NA
2-148672771-A-AC p.Pro183fs frameshift ACVR2A 1 82736 1.20866E-5 41368 0 NA
2-148672772-C-A p.Pro181Thr missense ACVR2A 1 82752 1.20843E-5 41376 0 3.19081E-5
2-148672774-C-T p.Pro181Pro synonymous ACVR2A 3 82750 3.62538E-5 41375 0 6.61507E-5
2-148672786-A-G p.Pro185Pro synonymous ACVR2A 2 82806 2.41528E-5 41403 0 3.19E-5
2-148672792-A-G p.Leu187Leu synonymous ACVR2A 1 82840 1.20715E-5 41420 0 8.262E-6
2-148672801-A-G p.Lys190Lys synonymous ACVR2A 11 82892 1.32703E-4 41446 0 2.14731E-4
2-148672810-G-A p.Gln193Gln synonymous ACVR2A 3 82924 3.61777E-5 41462 0 NA
2-148672835-A-G p.Arg202Gly missense ACVR2A 1 82924 1.20592E-5 41462 0 NA
2-148672845-G-T p.Cys205Phe missense ACVR2A 1 82920 1.20598E-5 41460 0 NA
2-148672882-T-C p.Ala217Ala synonymous ACVR2A 3 82756 3.62511E-5 41378 0 3.18817E-5
2-148674856-A-G p.Lys226Arg missense ACVR2A 1 82460 1.21271E-5 41230 0 6.78783E-5
2-148674879-G-A p.Glu234Lys missense ACVR2A 1 82454 1.2128E-5 41227 0 4.00407E-6
2-148674881-A-C p.Glu234Asp missense ACVR2A 2 82462 2.42536E-5 41231 0 8.37367E-6
2-148674941-A-T p.Lys254Asn missense ACVR2A 1 82406 1.2135E-5 41203 0 NA
2-148674953-T-G p.Ser258Arg missense ACVR2A 1 82354 1.21427E-5 41177 0 8.29628E-6
2-148674962-G-C p.Val261Val synonymous ACVR2A 25 82310 3.0373E-4 41155 0 6.06177E-4
2-148676010-T-G c.817-6T>G splice_region ACVR2A 1 82562 1.21121E-5 41281 0 4.28222E-6
2-148676020-C-A p.Ser274* stop_gained ACVR2A 1 82640 1.21007E-5 41320 0 NA
2-148676024-A-G p.Leu275Leu synonymous ACVR2A 9 82720 1.08801E-4 41360 0 6.25E-4
2-148676127-C-T p.Leu310Leu synonymous ACVR2A 2 82498 2.4243E-5 41249 0 1.66107E-5
2-148676135-T-C p.Asp312Asp synonymous ACVR2A 2 82550 2.42277E-5 41275 0 NA
2-148676137-G-C p.Gly313Ala missense ACVR2A 3 81534 3.67945E-5 40767 0 0.142641
2-148676138-C-T p.Gly313Gly synonymous ACVR2A 2 82560 2.42248E-5 41280 0 2.50067E-5
2-148676144-A-C p.Lys315Asn missense ACVR2A 4 72446 5.52135E-5 36223 0 0.427419
2-148676165-G-A c.962+4G>A splice_region ACVR2A 1 82566 1.21115E-5 41283 0 4.34798E-6
2-148676168-T-C c.962+7T>C splice_region ACVR2A 1 82472 1.21253E-5 41236 0 NA
2-148677791-T-C c.963-8T>C splice_region ACVR2A 15 81652 1.83706E-4 40826 0 2.26237E-4
2-148677802-C-T p.Asp322Asp synonymous ACVR2A 1 81980 1.21981E-5 40990 0 NA
2-148677811-T-C p.Ser325Ser synonymous ACVR2A 1 82158 1.21717E-5 41079 0 NA
2-148677817-T-C p.Asn327Asn synonymous ACVR2A 1 82282 1.21533E-5 41141 0 6.3678E-5
2-148677833-A-C p.Asn333His missense ACVR2A 3 82524 3.63531E-5 41262 0 NA
2-148677862-G-A p.Gly342Gly synonymous ACVR2A 1 82708 1.20907E-5 41354 0 3.98788E-6
2-148677880-G-A p.Glu348Glu synonymous ACVR2A 1 82710 1.20904E-5 41355 0 3.98823E-6
2-148677881-G-T p.Ala349Ser missense ACVR2A 2 82702 2.41832E-5 41351 0 3.18552E-5
2-148677894-C-T p.Ala353Val missense ACVR2A 1 82694 1.20928E-5 41347 0 3.99001E-6
2-148677898-C-T p.Gly354Gly synonymous ACVR2A 1 82638 1.2101E-5 41319 0 3.30671E-5
2-148677907-T-C p.His357His synonymous ACVR2A 1 82610 1.21051E-5 41305 0 7.44491E-5
2-148677918-GGAT-G c.1077+6_1077+8delGAT splice_region ACVR2A 1 82514 1.21192E-5 41257 0 NA
2-148680533-C-CT c.1078-9_1078-8insT splice_region ACVR2A 1 82898 1.2063E-5 41449 0 8.60208E-6
2-148680543-T-C p.Val360Ala missense+splice_region ACVR2A 1 82886 1.20648E-5 41443 0 NA
2-148680565-T-G p.Ala367Ala synonymous ACVR2A 1 82908 1.20616E-5 41454 0 NA
2-148680587-A-G p.Ile375Val missense ACVR2A 1 83018 1.20456E-5 41509 0 3.98403E-6
2-148680596-C-G p.Gln378Glu missense ACVR2A 1 83054 1.20404E-5 41527 0 NA
2-148680607-A-G p.Ala381Ala synonymous ACVR2A 5 83060 6.01974E-5 41530 0 NA
2-148680618-T-C p.Ile385Thr missense ACVR2A 2 83074 2.40749E-5 41537 0 NA
2-148680641-G-A p.Val393Ile missense ACVR2A 2 83038 2.40854E-5 41519 0 3.98893E-6
2-148680646-A-G p.Leu394Leu synonymous ACVR2A 2 83014 2.40923E-5 41507 0 1.31915E-4
2-148680658-T-G p.Ala398Ala synonymous ACVR2A 1 82956 1.20546E-5 41478 0 3.18674E-5
2-148680669-C-G p.Thr402Ser missense ACVR2A 2 82906 2.41237E-5 41453 0 1.65237E-5
2-148680680-G-GGACCT c.1216_1216+1insGACCT splice_donor ACVR2A 1 82740 1.20861E-5 41370 0 NA
2-148680681-G-GACCTGTAGATGAA c.1216+1_1216+2insACCTGTAGATGAA splice_donor ACVR2A 1 82726 1.20881E-5 41363 0 NA
2-148680681-G-GACCTGTAGATGAATACATGTTGCCATT c.1216+1_1216+2insACCTGTAGATGAATACATGTTGCCATT splice_donor ACVR2A 1 82726 1.20881E-5 41363 0 NA
2-148680687-GA-G c.1216+8delA splice_region ACVR2A 10 82512 1.21194E-4 41256 2 1.68472E-5
2-148683603-C-G p.Pro407Arg missense ACVR2A 1 82800 1.20773E-5 41400 0 4.04295E-6
2-148683649-T-C p.His422His synonymous ACVR2A 1 82928 1.20587E-5 41464 0 3.99125E-6
2-148683652-A-G p.Pro423Pro synonymous ACVR2A 2 82944 2.41127E-5 41472 0 4.12786E-5
2-148683684-A-T p.His434Leu missense ACVR2A 1 83010 1.20467E-5 41505 0 8.25818E-6
2-148683694-G-A p.Lys437Lys synonymous ACVR2A 2 83030 2.40877E-5 41515 0 1.99791E-5
2-148684641-C-T c.1348-8C>T splice_region ACVR2A 1 82412 1.21342E-5 41206 0 NA
2-148684642-C-G c.1348-7C>G splice_region ACVR2A 1 82432 1.21312E-5 41216 0 8.48695E-6
2-148684651-A-T p.Gly450Gly splice_region+synonymous ACVR2A 1 82566 1.21115E-5 41283 0 8.03103E-6
2-148684658-A-G p.Met453Val missense ACVR2A 3 82634 3.63047E-5 41317 0 0.001875
2-148684660-G-A p.Met453Ile missense ACVR2A 1 82632 1.21018E-5 41316 0 4.005E-6
2-148684696-C-T p.Asp465Asp synonymous ACVR2A 1 82702 1.20916E-5 41351 0 1.99776E-5
2-148684697-G-A p.Ala466Thr missense ACVR2A 2 82700 2.41838E-5 41350 0 8.29628E-6
2-148684727-G-C p.Gly476Arg missense ACVR2A 6 82516 7.27132E-5 41258 0 3.99568E-6
2-148684738-T-C p.Ile479Ile synonymous ACVR2A 1 82404 1.21353E-5 41202 0 6.37877E-5
2-148684761-ATAT-A p.Ile489del disruptive_inframe_deletion ACVR2A 1 82184 1.21678E-5 41092 0 7.99693E-6
2-148684764-T-C p.Ile488Thr missense ACVR2A 5 82136 6.08746E-5 41068 0 3.18715E-5
2-148684790-G-A p.Val497Met missense ACVR2A 2 81858 2.44326E-5 40929 0 NA
2-148684799-A-G p.Met500Val missense ACVR2A 7 81804 8.55704E-5 40902 0 1.59408E-4
2-148684837-TC-T p.Leu513fs frameshift ACVR2A 1 81898 1.22103E-5 40949 0 8.33792E-6
2-148685175-A-ATGTC c.*337_*340dupTGTC splice_region ACVR2A 1 43506 2.29853E-5 21753 0 3.18817E-5
2-148685496-C-T c.*653C>T splice_region ACVR2A 121 43492 0.00278212 21746 2 0.00194714
2-148685497-G-A c.*654G>A splice_region ACVR2A 1 43498 2.29896E-5 21749 0 NA