Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-158390439-G-C p.Cys491Trp missense ACVR1C 2 82250 2.43161E-5 41125 0 NA
2-158390448-T-C p.Lys488Lys synonymous ACVR1C 1 82288 1.21524E-5 41144 0 4.49487E-6
2-158390453-C-T p.Val487Ile missense ACVR1C 17 82292 2.06581E-4 41146 0 8.92217E-4
2-158390460-T-C p.Gln484Gln synonymous ACVR1C 1 82514 1.21192E-5 41257 0 1.74656E-5
2-158390461-T-C p.Gln484Arg missense ACVR1C 1 82490 1.21227E-5 41245 0 NA
2-158390468-T-C p.Ile482Val missense ACVR1C 8064 82296 0.0979877 41148 771 0.152825
2-158390491-G-C p.Thr474Ser missense ACVR1C 3 82340 3.64343E-5 41170 0 3.18857E-5
2-158390497-C-T p.Arg472His missense ACVR1C 1 82214 1.21634E-5 41107 0 NA
2-158390502-C-T p.Ala470Ala synonymous ACVR1C 2 82176 2.4338E-5 41088 0 8.45623E-6
2-158390507-C-T p.Gly469Arg missense ACVR1C 1 82182 1.21681E-5 41091 0 NA
2-158390508-G-A p.Asn468Asn synonymous ACVR1C 1 82118 1.21776E-5 41059 0 3.19346E-5
2-158390522-A-T p.Cys464Ser missense ACVR1C 2 81924 2.44129E-5 40962 0 3.18837E-5
2-158390526-A-G p.Arg462Arg synonymous ACVR1C 1 81772 1.22291E-5 40886 0 NA
2-158390530-A-G p.Met461Thr missense ACVR1C 1 81744 1.22333E-5 40872 0 NA
2-158390546-C-A p.Val456Phe missense ACVR1C 1 81330 1.22956E-5 40665 0 NA
2-158390548-C-T p.Arg455Gln missense ACVR1C 2 81066 2.46713E-5 40533 0 1.67726E-5
2-158390549-G-C p.Arg455Gly missense ACVR1C 4 81126 4.9306E-5 40563 0 3.19652E-5
2-158390562-GAGAG-AAAAA c.1357-11_1357-7delCTCTCinsTTTTT splice_region ACVR1C 1 81004 1.23451E-5 40502 0 NA
2-158395079-C-G c.1356+6G>C splice_region ACVR1C 69474 80530 0.86271 40265 30007 0.871099
2-158395091-A-G p.Ser450Ser synonymous ACVR1C 6 82054 7.31226E-5 41027 1 4.1351E-5
2-158395120-G-A p.Arg441* stop_gained ACVR1C 1 82388 1.21377E-5 41194 0 8.26037E-6
2-158395121-A-C p.Phe440Leu missense ACVR1C 2 82434 2.42618E-5 41217 0 2.58659E-5
2-158395127-C-T p.Gln438Gln synonymous ACVR1C 1 82440 1.213E-5 41220 0 4.29472E-6
2-158395158-A-G p.Ile428Thr missense ACVR1C 2 82522 2.4236E-5 41261 0 8.5492E-6
2-158395160-C-T p.Ser427Ser synonymous ACVR1C 4 82506 4.84813E-5 41253 0 9.56267E-5
2-158395209-A-G p.Val411Ala missense ACVR1C 4 80354 4.97797E-5 40177 0 3.19122E-4
2-158395210-C-A p.Val411Phe missense ACVR1C 5 80320 6.2251E-5 40160 0 NA
2-158397595-AT-A c.1225+6delA splice_region ACVR1C 1 83182 1.20218E-5 41591 0 6.37186E-5
2-158397605-C-T p.Gly408Arg missense ACVR1C 2 83208 2.40361E-5 41604 0 6.03185E-5
2-158397606-G-A p.Val407Val synonymous ACVR1C 10 83210 1.20178E-4 41605 0 0.00100705
2-158397620-G-A p.Arg403Trp missense ACVR1C 1 83236 1.2014E-5 41618 0 6.37186E-5
2-158397648-A-G p.Ser393Ser synonymous ACVR1C 1 83226 1.20155E-5 41613 0 3.1835E-5
2-158397688-A-T p.Val380Glu missense ACVR1C 1 83144 1.20273E-5 41572 0 3.98206E-6
2-158397697-G-T p.Thr377Lys missense ACVR1C 4 83118 4.81244E-5 41559 0 9.0792E-5
2-158397705-A-G p.Leu374Leu synonymous ACVR1C 1 83102 1.20334E-5 41551 0 3.98337E-6
2-158399210-C-T c.1100+8G>A splice_region ACVR1C 2 83216 2.40338E-5 41608 0 8.07683E-6
2-158399211-G-A c.1100+7C>T splice_region ACVR1C 1 83222 1.20161E-5 41611 0 3.364E-5
2-158399250-G-A p.Asp356Asp synonymous ACVR1C 2 83316 2.4005E-5 41658 0 3.18492E-5
2-158399252-C-T p.Asp356Asn missense ACVR1C 1 83308 1.20036E-5 41654 0 1.6494E-5
2-158399254-A-C p.Ile355Ser missense ACVR1C 1 83320 1.20019E-5 41660 0 NA
2-158399255-T-C p.Ile355Val missense ACVR1C 30 83318 3.60066E-4 41659 1 0.00100705
2-158399257-G-A p.Thr354Ile missense ACVR1C 1 83330 1.20005E-5 41665 0 NA
2-158399264-G-A p.Leu352Leu synonymous ACVR1C 33 83334 3.95997E-4 41667 1 0.00151057
2-158399298-C-T p.Ala340Ala synonymous ACVR1C 149 83328 0.00178811 41664 1 0.00258171
2-158399303-T-C p.Ile339Val missense ACVR1C 2 83330 2.4001E-5 41665 0 3.97763E-6
2-158399305-G-C p.Ala338Gly missense ACVR1C 1 83320 1.20019E-5 41660 0 NA
2-158399331-G-A p.Ile329Ile synonymous ACVR1C 2 83268 2.40188E-5 41634 0 NA
2-158399342-A-C p.Ser326Ala missense ACVR1C 2 83230 2.40298E-5 41615 0 NA
2-158399343-T-A p.Lys325Asn missense ACVR1C 2 83232 2.40292E-5 41616 0 3.98051E-6
2-158399348-T-C p.Ile324Val missense ACVR1C 2 83208 2.40361E-5 41604 0 1.65155E-5
2-158399349-G-C p.Asp323Glu missense ACVR1C 1 83204 1.20187E-5 41602 0 3.98096E-6
2-158399357-G-A p.His321Tyr missense ACVR1C 1 83152 1.20262E-5 41576 0 NA
2-158399378-T-A c.944-4A>T splice_region ACVR1C 4 83024 4.81788E-5 41512 0 NA
2-158400953-A-G c.943+4T>C splice_region ACVR1C 214 83056 0.00257657 41528 3 0.00141024
2-158400955-A-G c.943+2T>C splice_donor ACVR1C 1 83066 1.20386E-5 41533 0 NA
2-158400962-G-A p.Thr313Ile missense ACVR1C 1 83182 1.20218E-5 41591 0 NA
2-158400984-G-A p.Leu306Phe missense ACVR1C 2 83232 2.40292E-5 41616 0 NA
2-158400985-G-A p.His305His synonymous ACVR1C 1 83242 1.20132E-5 41621 0 NA
2-158401005-T-C p.Ile299Val missense ACVR1C 5 83212 6.00875E-5 41606 0 9.56267E-5
2-158401013-G-A p.Ala296Val missense ACVR1C 1 83204 1.20187E-5 41602 0 6.25E-4
2-158401014-C-T p.Ala296Thr missense ACVR1C 5 83212 6.00875E-5 41606 0 1.64791E-5
2-158401015-C-T p.Leu295Leu synonymous ACVR1C 1 83216 1.20169E-5 41608 0 8.2394E-6
2-158401022-A-C p.Ile293Ser missense ACVR1C 2 83212 2.4035E-5 41606 0 3.18532E-5
2-158401026-T-C p.Met292Val missense ACVR1C 1 83216 1.20169E-5 41608 0 3.97798E-6
2-158401035-C-T p.Val289Met missense ACVR1C 12 83186 1.44255E-4 41593 0 6.76348E-5
2-158401036-G-A p.Thr288Thr synonymous ACVR1C 10 83182 1.20218E-4 41591 0 7.41644E-5
2-158401044-T-C p.Ile286Val missense ACVR1C 1 83172 1.20233E-5 41586 0 NA
2-158401057-A-G p.Tyr281Tyr synonymous ACVR1C 29 83152 3.48759E-4 41576 0 9.87764E-4
2-158401066-T-C p.Leu278Leu synonymous ACVR1C 1 83144 1.20273E-5 41572 0 6.25E-4
2-158401072-G-A p.Gly276Gly synonymous ACVR1C 1 83108 1.20325E-5 41554 0 1.64856E-5
2-158401087-T-A p.Glu271Asp missense ACVR1C 3 83086 3.61072E-5 41543 0 5.03525E-4
2-158401088-T-C p.Glu271Gly missense ACVR1C 1 83080 1.20366E-5 41540 0 NA
2-158401105-T-C p.Gln265Gln synonymous ACVR1C 553 83024 0.00666072 41512 7 0.0134463
2-158401119-C-T p.Gly261Arg missense ACVR1C 1 82992 1.20494E-5 41496 0 8.25423E-6
2-158401121-T-C p.Asn260Ser missense ACVR1C 4 82972 4.8209E-5 41486 0 9.55475E-5
2-158401129-C-A c.776-5G>T splice_region ACVR1C 1 82890 1.20642E-5 41445 0 8.35136E-6
2-158406687-A-C p.Ala254Ala synonymous ACVR1C 1 82190 1.21669E-5 41095 0 NA
2-158406702-G-A p.Ile249Ile synonymous ACVR1C 2 82808 2.41523E-5 41404 0 3.19224E-5
2-158406704-T-C p.Ile249Val missense ACVR1C 3 82832 3.62179E-5 41416 0 6.37999E-5
2-158406705-G-A p.Asn248Asn synonymous ACVR1C 1 82864 1.2068E-5 41432 0 8.23818E-6
2-158406726-C-G p.Thr241Thr synonymous ACVR1C 1 83166 1.20241E-5 41583 0 NA
2-158406748-C-T p.Arg234His missense ACVR1C 1 83320 1.20019E-5 41660 0 8.23696E-6
2-158406767-C-G p.Asp228His missense ACVR1C 1 83374 1.19941E-5 41687 0 3.18837E-5
2-158406768-T-C p.Arg227Arg synonymous ACVR1C 3 83376 3.59816E-5 41688 0 NA
2-158406777-G-A p.Phe224Phe synonymous ACVR1C 214 83372 0.00256681 41686 1 0.00554776
2-158406778-A-T p.Phe224Tyr missense ACVR1C 1 83384 1.19927E-5 41692 0 8.23818E-6
2-158406797-C-T p.Asp218Asn missense ACVR1C 1 83396 1.1991E-5 41698 0 NA
2-158406817-T-C p.His211Arg missense ACVR1C 1 83382 1.1993E-5 41691 0 8.23642E-6
2-158406826-T-G p.Glu208Ala missense ACVR1C 3 83372 3.59833E-5 41686 0 NA
2-158406838-C-T p.Gly204Asp missense ACVR1C 1 83356 1.19967E-5 41678 0 8.23642E-6
2-158406846-T-G p.Val201Val synonymous ACVR1C 1 83338 1.19993E-5 41669 0 3.18613E-5
2-158406849-T-G p.Ile200Ile synonymous ACVR1C 554 83316 0.00664938 41658 16 0.0150781
2-158406850-A-G p.Ile200Thr missense ACVR1C 1 83304 1.20042E-5 41652 0 8.23642E-6
2-158406865-A-G p.Ile195Thr missense ACVR1C 94 83206 0.00112973 41603 0 0.00149691
2-158406868-G-A p.Thr194Met missense ACVR1C 2 83154 2.40518E-5 41577 0 8.23669E-6
2-158406883-C-T p.Arg189Lys missense ACVR1C 3 82920 3.61795E-5 41460 0 1.59479E-4
2-158406884-TT-CG p.GlnArg188HisGly missense ACVR1C 1 82918 1.20601E-5 41459 0 NA
2-158412601-A-G c.544+4T>C splice_region ACVR1C 1 83326 1.20011E-5 41663 0 NA
2-158412615-T-C p.Gly178Gly synonymous ACVR1C 1 83364 1.19956E-5 41682 0 3.1839E-5
2-158412623-C-T p.Ala176Thr missense ACVR1C 1 83352 1.19973E-5 41676 0 3.98048E-6
2-158412624-G-A p.Thr175Thr synonymous ACVR1C 55 83358 6.59805E-4 41679 0 0.00152925
2-158412626-T-G p.Thr175Pro missense ACVR1C 2 83354 2.3994E-5 41677 0 3.9821E-6
2-158412632-C-T p.Asp173Asn missense ACVR1C 1 83362 1.19959E-5 41681 0 NA
2-158412644-C-A p.Asp169Tyr missense ACVR1C 1 83376 1.19939E-5 41688 0 NA
2-158412659-C-G p.Gly164Arg missense ACVR1C 3 83382 3.5979E-5 41691 0 1.11437E-4
2-158412660-A-G p.Ala163Ala synonymous ACVR1C 1 83378 1.19936E-5 41689 0 NA
2-158412668-C-T p.Val161Ile missense ACVR1C 1 83388 1.19921E-5 41694 0 5.03525E-4
2-158412669-C-T p.Leu160Leu synonymous ACVR1C 1 83386 1.19924E-5 41693 0 NA
2-158412672-A-C p.Asn159Lys missense ACVR1C 1 83390 1.19918E-5 41695 0 NA
2-158412674-T-C p.Asn159Asp missense ACVR1C 1 83386 1.19924E-5 41693 0 3.18471E-5
2-158412675-G-T p.Cys158* stop_gained ACVR1C 1 83386 1.19924E-5 41693 0 3.9808E-6
2-158412675-G-A p.Cys158Cys synonymous ACVR1C 3 83386 3.59773E-5 41693 0 3.18512E-5
2-158412678-C-T p.Glu157Glu synonymous ACVR1C 2 83384 2.39854E-5 41692 0 3.18573E-5
2-158412684-G-A p.Leu155Leu synonymous ACVR1C 1 83380 1.19933E-5 41690 0 NA
2-158412699-A-G p.Asn150Asn synonymous ACVR1C 420 83380 0.00503718 41690 8 0.0061811
2-158412701-T-G p.Asn150His missense ACVR1C 540 83374 0.00647684 41687 1 0.0060365
2-158412733-C-T p.Arg139Gln missense ACVR1C 1 83378 1.19936E-5 41689 0 4.3778E-5
2-158412737-C-G p.Gly138Arg missense ACVR1C 2 83386 2.39848E-5 41693 0 8.28061E-6
2-158412737-C-T p.Gly138Ser missense ACVR1C 1 83386 1.19924E-5 41693 0 8.28061E-6
2-158412749-A-G p.Trp134Arg missense ACVR1C 3 83382 3.5979E-5 41691 0 NA
2-158412753-T-C p.Thr132Thr synonymous ACVR1C 4 83382 4.7972E-5 41691 0 1.65216E-5
2-158412762-C-T p.Ala129Ala synonymous ACVR1C 2 83372 2.39889E-5 41686 0 0.00100705
2-158412763-G-A p.Ala129Val missense ACVR1C 1 83376 1.19939E-5 41688 0 6.25E-4
2-158412771-G-C p.Ser126Ser synonymous ACVR1C 2 83388 2.39843E-5 41694 0 2.22902E-4
2-158412785-C-T p.Val122Ile missense ACVR1C 2 83386 2.39848E-5 41693 0 2.47223E-5
2-158412788-G-C p.Pro121Ala missense ACVR1C 27 83382 3.23811E-4 41691 0 2.22902E-4
2-158412788-G-T p.Pro121Thr missense ACVR1C 2 83386 2.39848E-5 41693 0 NA
2-158412791-C-G p.Val120Leu missense ACVR1C 2 83392 2.39831E-5 41696 0 NA
2-158412795-A-G p.Ile118Ile synonymous ACVR1C 1 83390 1.19918E-5 41695 0 NA
2-158412808-A-T p.Leu114Gln missense ACVR1C 2 83392 2.39831E-5 41696 0 8.23995E-6
2-158412810-C-T p.Glu113Glu synonymous ACVR1C 4 83394 4.79651E-5 41697 0 9.23567E-4
2-158443691-C-A c.304+8G>T splice_region ACVR1C 1 83018 1.20456E-5 41509 0 NA
2-158443693-C-T c.304+6G>A splice_region ACVR1C 3 83068 3.6115E-5 41534 0 1.6506E-5
2-158443693-C-A c.304+6G>T splice_region ACVR1C 1 83068 1.20383E-5 41534 0 3.984E-6
2-158443703-T-G p.Pro100Pro synonymous ACVR1C 1 83160 1.2025E-5 41580 0 NA
2-158443708-G-T p.Leu99Ile missense ACVR1C 1 83174 1.2023E-5 41587 0 NA
2-158443709-G-A p.His98His synonymous ACVR1C 3 83176 3.60681E-5 41588 0 1.99026E-5
2-158443720-T-C p.Ile95Val missense ACVR1C 1 83220 1.20163E-5 41610 0 3.97861E-6
2-158443724-G-A p.Asn93Asn synonymous ACVR1C 6 83236 7.20842E-5 41618 0 2.47223E-5
2-158443748-T-C p.Glu85Glu synonymous ACVR1C 1 83242 1.20132E-5 41621 0 NA
2-158443751-G-T p.Thr84Thr synonymous ACVR1C 2 83264 2.402E-5 41632 0 4.77369E-5
2-158443751-G-A p.Thr84Thr synonymous ACVR1C 1 83264 1.201E-5 41632 0 8.23832E-6
2-158443763-A-G p.Asn80Asn synonymous ACVR1C 2 83264 2.402E-5 41632 0 8.23778E-6
2-158443775-A-G p.His76His synonymous ACVR1C 1 83282 1.20074E-5 41641 0 1.19324E-5
2-158443793-A-G p.Asn70Asn synonymous ACVR1C 2 83284 2.40142E-5 41642 0 3.18695E-5
2-158443806-A-G p.Leu66Pro missense ACVR1C 1 83284 1.20071E-5 41642 0 3.18674E-5
2-158443826-C-A p.Val59Val synonymous ACVR1C 2 83274 2.40171E-5 41637 0 8.23723E-6
2-158443831-G-C p.Gln58Glu missense ACVR1C 1 83274 1.20085E-5 41637 0 NA
2-158443834-C-T p.Glu57Lys missense ACVR1C 1 83280 1.20077E-5 41640 0 3.18776E-5
2-158443837-T-C p.Lys56Glu missense ACVR1C 3 83280 3.60231E-5 41640 0 1.19329E-5
2-158443883-G-A p.Cys40Cys synonymous ACVR1C 1 83254 1.20114E-5 41627 0 3.97864E-6
2-158443889-G-A p.Phe38Phe synonymous ACVR1C 34732 81944 0.42385 40972 7558 0.453314
2-158443892-G-A p.Asn37Asn synonymous ACVR1C 1 83234 1.20143E-5 41617 0 NA
2-158443908-A-T p.Leu32* stop_gained ACVR1C 2 83194 2.40402E-5 41597 0 1.48346E-4
2-158443922-C-T c.-70G>A 5_prime_UTR_premature_start_codon_gain ACVR1C 1 83114 1.20317E-5 41557 0 NA
2-158443926-A-C p.Leu26Arg missense ACVR1C 2 83106 2.40657E-5 41553 0 6.37227E-5
2-158454052-C-T c.-258G>A 5_prime_UTR_premature_start_codon_gain ACVR1C 3 26892 1.11557E-4 13446 0 NA
2-158485076-C-G c.73+8G>C splice_region ACVR1C 10 72180 1.38543E-4 36090 0 9.57365E-5
2-158485077-A-G c.73+7T>C splice_region ACVR1C 1 71996 1.38897E-5 35998 0 NA
2-158485079-C-A c.73+5G>T splice_region ACVR1C 1 71976 1.38935E-5 35988 0 NA
2-158485094-C-G p.Glu21Asp missense ACVR1C 1 70926 1.40992E-5 35463 0 NA
2-158485112-C-T p.Leu15Leu synonymous ACVR1C 9 68432 1.31517E-4 34216 0 9.56694E-5
2-158485118-G-A p.Leu13Leu synonymous ACVR1C 1 67638 1.47846E-5 33819 0 3.0499E-5
2-158485132-G-C p.Leu9Val missense ACVR1C 7 64594 1.08369E-4 32297 0 7.59907E-5
2-158485136-T-C p.Ser7Ser synonymous ACVR1C 1 63692 1.57006E-5 31846 0 3.19387E-5
2-158485145-C-A p.Ala4Ala synonymous ACVR1C 1 61374 1.62935E-5 30687 0 5.38202E-6
2-158485149-C-A p.Arg3Leu missense ACVR1C 1 60250 1.65975E-5 30125 0 1.11424E-5
2-158485149-C-G p.Arg3Pro missense ACVR1C 1 60250 1.65975E-5 30125 0 NA
2-158485150-G-T p.Arg3Arg synonymous ACVR1C 1 60218 1.66063E-5 30109 0 NA
2-158485199-G-C c.-43C>G 5_prime_UTR_premature_start_codon_gain ACVR1C 2 50696 3.94508E-5 25348 0 9.57182E-5
2-158485212-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain ACVR1C 4 47624 8.39913E-5 23812 0 NA
2-158485265-C-T c.-109G>A 5_prime_UTR_premature_start_codon_gain ACVR1C 1 36242 2.75923E-5 18121 0 NA
2-158485287-G-A c.-131C>T 5_prime_UTR_premature_start_codon_gain ACVR1C 1 30042 3.32867E-5 15021 0 NA
2-158485336-C-A c.-180G>T 5_prime_UTR_premature_start_codon_gain ACVR1C 3 12394 2.42053E-4 6197 0 1.30676E-4
2-158485389-G-A c.-233C>T 5_prime_UTR_premature_start_codon_gain ACVR1C 1 6758 1.47973E-4 3379 0 NA
2-158485475-T-A c.-319A>T 5_prime_UTR_premature_start_codon_gain ACVR1C 1 354 0.00282486 177 0 NA