Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-58666816-C-T c.-120C>T 5_prime_UTR_premature_start_codon_gain ACTR10 1 35852 2.78924E-5 17926 0 NA
14-58666832-C-T c.-104C>T 5_prime_UTR_premature_start_codon_gain ACTR10 1 49210 2.03211E-5 24605 0 NA
14-58666897-G-T c.-39G>T 5_prime_UTR_premature_start_codon_gain ACTR10 1 73958 1.35212E-5 36979 0 9.95857E-6
14-58666939-C-G p.Pro2Ala missense ACTR10 1 79304 1.26097E-5 39652 0 5.2761E-6
14-58666959-G-C p.Gly8Gly synonymous ACTR10 1 79320 1.26072E-5 39660 0 NA
14-58666967-G-C p.Gly11Ala missense ACTR10 3 78932 3.80074E-5 39466 0 2.70416E-5
14-58666977-G-A p.Thr14Thr synonymous ACTR10 1 77236 1.29473E-5 38618 0 3.3071E-5
14-58666984-G-C p.Val17Leu missense ACTR10 3 77234 3.8843E-5 38617 0 NA
14-58666996-G-GGA p.Ala23fs frameshift ACTR10 2 77480 2.58131E-5 38740 0 1.21103E-5
14-58666999-G-A p.Glu22Lys missense ACTR10 2 77496 2.58078E-5 38748 0 NA
14-58667002-G-T p.Ala23Ser missense ACTR10 5 77388 6.46095E-5 38694 0 NA
14-58667012-A-G p.Lys26Arg missense+splice_region ACTR10 86 77048 0.00111619 38524 0 0.00213717
14-58667019-GGCCGTGAC-G c.77+8_77+15delGCCGTGAC splice_region ACTR10 1 76956 1.29944E-5 38478 0 NA
14-58669603-A-T p.Arg36Ser missense ACTR10 2 82614 2.4209E-5 41307 0 6.37186E-5
14-58669618-T-C p.Ser41Ser synonymous ACTR10 2 82636 2.42025E-5 41318 1 NA
14-58669634-G-A p.Gly47Arg missense ACTR10 1 82452 1.21283E-5 41226 0 NA
14-58669637-A-C p.Met48Leu missense ACTR10 61 82440 7.39932E-4 41220 0 0.0010757
14-58669641-C-A p.Pro49His missense ACTR10 1 82350 1.21433E-5 41175 0 NA
14-58669651-TA-T c.150+7delA splice_region ACTR10 3 81796 3.66766E-5 40898 0 6.01948E-4
14-58673907-C-T c.*12+6C>T splice_region ACTR10 102 342 0.298246 171 20 0.424242
14-58674651-C-T c.151-3C>T splice_region ACTR10 4 72770 5.49677E-5 36385 0 4.27577E-5
14-58674685-C-G p.Thr61Arg missense ACTR10 1 77222 1.29497E-5 38611 0 5.64124E-6
14-58674707-AAAGG-A p.Lys69fs frameshift ACTR10 1 77668 1.28753E-5 38834 0 NA
14-58674716-C-T p.Phe71Phe synonymous ACTR10 4 77688 5.1488E-5 38844 0 NA
14-58674719-C-T p.Ile72Ile synonymous ACTR10 2 77750 2.57235E-5 38875 0 NA
14-58674720-C-G p.His73Asp missense ACTR10 1 77684 1.28727E-5 38842 0 8.32044E-6
14-58674720-C-T p.His73Tyr missense ACTR10 1 77684 1.28727E-5 38842 0 NA
14-58674723-A-G p.Ile74Val missense ACTR10 1 77580 1.28899E-5 38790 0 2.81427E-5
14-58674734-C-T p.Phe77Phe splice_region+synonymous ACTR10 1 77006 1.2986E-5 38503 0 NA
14-58675709-C-G c.234-8C>G splice_region ACTR10 1 82876 1.20662E-5 41438 0 3.18613E-5
14-58675738-A-G p.Arg85Arg synonymous ACTR10 1 83166 1.20241E-5 41583 0 NA
14-58675745-C-T p.Arg88* stop_gained ACTR10 1 83174 1.2023E-5 41587 0 3.19678E-5
14-58675747-A-G p.Arg88Arg synonymous ACTR10 1 83180 1.20221E-5 41590 0 1.19778E-5
14-58675760-G-C p.Glu93Gln missense ACTR10 1 83196 1.20198E-5 41598 0 3.18573E-5
14-58675764-C-T p.Ser94Leu missense ACTR10 1 83192 1.20204E-5 41596 0 8.239E-6
14-58675765-G-A p.Ser94Ser synonymous ACTR10 2 83194 2.40402E-5 41597 0 3.59439E-5
14-58675768-A-T p.Val95Val synonymous ACTR10 1 83202 1.20189E-5 41601 0 1.59778E-5
14-58675795-A-C p.Thr104Thr synonymous ACTR10 2 83048 2.40825E-5 41524 0 NA
14-58675795-A-G p.Thr104Thr synonymous ACTR10 1 83048 1.20412E-5 41524 0 NA
14-58675798-C-T p.Leu105Leu synonymous ACTR10 1 83004 1.20476E-5 41502 0 1.64859E-5
14-58675802-C-G p.Arg107Gly missense ACTR10 5 82966 6.02657E-5 41483 0 1.67486E-5
14-58675803-G-A p.Arg107His missense ACTR10 7 82964 8.43739E-5 41482 0 1.59266E-4
14-58675809-T-C p.Leu109Pro missense ACTR10 1 82368 1.21406E-5 41184 0 1.35915E-5
14-58675815-A-G p.Lys111Arg missense ACTR10 2 82336 2.42907E-5 41168 0 3.18451E-5
14-58675825-G-A p.Glu114Glu splice_region+synonymous ACTR10 1 82248 1.21584E-5 41124 0 NA
14-58675826-G-C c.342+1G>C splice_donor ACTR10 1 82224 1.21619E-5 41112 0 NA
14-58675829-C-T c.342+4C>T splice_region ACTR10 4 82062 4.87436E-5 41031 0 5.7308E-4
14-58675830-C-T c.342+5C>T splice_region ACTR10 1 82164 1.21708E-5 41082 0 4.47652E-6
14-58675832-G-A c.342+7G>A splice_region ACTR10 3 82310 3.64476E-5 41155 0 3.18593E-5
14-58675975-C-T n.540C>T splice_region ACTR10 1 54696 1.82829E-5 27348 0 6.38203E-5
14-58678017-C-A p.Ser117Tyr missense ACTR10 1 83042 1.20421E-5 41521 0 NA
14-58678031-C-A p.Pro122Thr missense ACTR10 1 83118 1.20311E-5 41559 0 NA
14-58678039-T-C p.His124His synonymous ACTR10 1 83130 1.20294E-5 41565 0 NA
14-58678040-C-T p.Leu125Leu synonymous ACTR10 1 83128 1.20296E-5 41564 0 NA
14-58678041-T-C p.Leu125Pro missense ACTR10 1 83130 1.20294E-5 41565 0 NA
14-58678042-A-G p.Leu125Leu synonymous ACTR10 13 83132 1.56378E-4 41566 0 2.54793E-4
14-58678052-C-T p.Leu129Leu synonymous ACTR10 1 83160 1.2025E-5 41580 0 NA
14-58678056-C-T p.Thr130Met missense ACTR10 1 83138 1.20282E-5 41569 0 1.98864E-5
14-58678057-G-A p.Thr130Thr synonymous ACTR10 2327 83076 0.0280105 41538 40 0.0605449
14-58678057-G-T p.Thr130Thr synonymous ACTR10 2 83140 2.40558E-5 41570 0 1.64739E-5
14-58678068-A-C p.Asn134Thr missense ACTR10 1 83146 1.2027E-5 41573 0 NA
14-58678079-G-T p.Val138Phe missense ACTR10 1 83148 1.20267E-5 41574 0 NA
14-58678082-C-G p.Leu139Val missense ACTR10 2 83138 2.40564E-5 41569 0 NA
14-58678095-A-T p.Tyr143Phe missense ACTR10 1 83104 1.20331E-5 41552 0 NA
14-58678098-G-A p.Arg144Lys missense ACTR10 6 83118 7.21865E-5 41559 0 NA
14-58678101-A-G p.Glu145Gly missense ACTR10 1 83100 1.20337E-5 41550 0 NA
14-58678111-G-T c.443+1G>T splice_donor ACTR10 2 83000 2.40964E-5 41500 0 1.64739E-5
14-58678118-A-G c.450+1A>G splice_donor ACTR10 10 82938 1.20572E-4 41469 0 9.55292E-5
14-58680344-T-C c.451-5T>C splice_region ACTR10 6 82458 7.27643E-5 41229 0 0.00125
14-58680345-A-T c.451-4A>T splice_region ACTR10 2 82422 2.42654E-5 41211 0 3.18451E-5
14-58680352-T-C p.Tyr152His missense ACTR10 1 82576 1.21101E-5 41288 0 0.003125
14-58680363-C-T p.Pro156Ser missense ACTR10 1 82666 1.20969E-5 41333 0 3.38702E-5
14-58680366-A-G p.Ser157Gly missense ACTR10 6 82662 7.25847E-5 41331 0 4.39353E-5
14-58680371-T-A p.Leu158Gln missense ACTR10 1 82674 1.20957E-5 41337 0 NA
14-58680371-T-C p.Leu158Pro missense ACTR10 2 82674 2.41914E-5 41337 0 2.79359E-5
14-58680384-A-G p.Ser163Gly missense ACTR10 5 82618 6.05195E-5 41309 0 5.04032E-4
14-58680387-A-G p.Thr164Ala missense ACTR10 1 82656 1.20983E-5 41328 0 NA
14-58680396-A-G p.Arg167Gly missense ACTR10 1 82604 1.2106E-5 41302 0 NA
14-58680406-G-C p.Ala170Pro missense ACTR10 2 82570 2.42219E-5 41285 0 1.71212E-5
14-58680407-CT-C p.Leu171fs frameshift ACTR10 1 82574 1.21103E-5 41287 0 8.56854E-6
14-58680413-A-G p.His172Arg missense ACTR10 3 82498 3.63645E-5 41249 0 1.72995E-5
14-58680420-A-C c.518+4A>C splice_region ACTR10 1 82402 1.21356E-5 41201 0 NA
14-58681944-G-A p.Gly181Arg missense ACTR10 1 83016 1.20459E-5 41508 0 NA
14-58681948-C-G p.Gln182Glu missense ACTR10 1 83022 1.2045E-5 41511 0 NA
14-58681950-A-G p.Met183Val missense ACTR10 2 83068 2.40767E-5 41534 0 1.68574E-5
14-58681956-T-G p.Cys185Gly missense ACTR10 1 83100 1.20337E-5 41550 0 0.001875
14-58681964-C-A p.Thr187Lys missense ACTR10 1 83088 1.20354E-5 41544 0 1.9151E-4
14-58681967-G-A p.Ser188Asn missense ACTR10 2 83082 2.40726E-5 41541 0 3.18939E-5
14-58681982-A-AGAGCCATC p.Leu195fs frameshift ACTR10 3 83066 3.61159E-5 41533 0 NA
14-58681992-C-G p.Pro196Pro synonymous ACTR10 1 83034 1.20433E-5 41517 0 NA
14-58682001-G-A p.Met199Ile missense+splice_region ACTR10 1 82962 1.20537E-5 41481 0 8.67799E-6
14-58686421-C-T p.Pro203Leu missense ACTR10 23 80298 2.86433E-4 40149 0 2.79211E-4
14-58686422-G-A p.Pro203Pro synonymous ACTR10 6 80228 7.47869E-5 40114 0 2.23056E-4
14-58686435-G-C p.Glu208Gln missense ACTR10 2 80680 2.47893E-5 40340 0 2.47164E-5
14-58686437-G-A p.Glu208Glu synonymous ACTR10 1 80656 1.23983E-5 40328 0 5.07619E-6
14-58690337-A-C c.635-3A>C splice_region ACTR10 1 83240 1.20135E-5 41620 0 4.09907E-6
14-58690340-C-T p.Ala212Val missense+splice_region ACTR10 7 83236 8.40982E-5 41618 0 1.63112E-5
14-58690341-G-A p.Ala212Ala splice_region+synonymous ACTR10 20 83230 2.40298E-4 41615 0 5.50612E-5
14-58690342-C-T p.Arg213Cys missense+splice_region ACTR10 6 83248 7.20738E-5 41624 0 9.56816E-5
14-58690343-G-C p.Arg213Pro missense ACTR10 3 83252 3.60352E-5 41626 0 1.06694E-5
14-58690343-G-A p.Arg213His missense ACTR10 6 83252 7.20703E-5 41626 0 1.59765E-4
14-58690345-A-C p.Thr214Pro missense ACTR10 1 83272 1.20088E-5 41636 0 NA
14-58690351-T-C p.Phe216Leu missense ACTR10 1 83284 1.20071E-5 41642 0 NA
14-58690368-G-A p.Lys221Lys synonymous ACTR10 1 83310 1.20034E-5 41655 0 9.20437E-6
14-58690390-G-T p.Ala229Ser missense ACTR10 2 83304 2.40085E-5 41652 0 6.46621E-5
14-58690406-A-T p.Asp234Val missense ACTR10 24 83284 2.88171E-4 41642 0 4.48919E-4
14-58690412-A-G p.Asn236Ser missense ACTR10 2 83288 2.40131E-5 41644 0 NA
14-58690417-GAGGTAAGTTTAAAAAAAAAAAAGGCATCTTTTTGCAAAGGTTACAACATGTGTGGACTTATGTTTATGATATTTATATTTC-G c.714+1_715-1delGTAAGTTTAAAAAAAAAAAAGGCATCTTTTTGCAAAGGTTACAACATGTGTGGACTTATGTTTATGATATTTATATTTCAG splice_acceptor ACTR10 8 83270 9.6073E-5 41635 0 NA
14-58690424-G-A c.714+5G>A splice_region ACTR10 2 83226 2.4031E-5 41613 0 3.51519E-5
14-58690493-T-C c.715-8T>C splice_region ACTR10 1 83152 1.20262E-5 41576 0 NA
14-58690502-G-A p.Arg239His missense+splice_region ACTR10 3 83138 3.60846E-5 41569 0 2.47492E-5
14-58690506-C-G p.Pro240Pro synonymous ACTR10 9 83152 1.08236E-4 41576 0 4.94854E-5
14-58690513-C-T p.Pro243Ser missense ACTR10 13 83144 1.56355E-4 41572 0 1.35337E-4
14-58690520-A-T p.Asn245Ile missense ACTR10 1 83128 1.20296E-5 41564 0 3.18857E-5
14-58690533-A-G p.Pro249Pro synonymous ACTR10 1 83166 1.20241E-5 41583 0 NA
14-58690541-G-A p.Gly252Glu missense ACTR10 1 83156 1.20256E-5 41578 0 NA
14-58690570-A-G p.Ile262Val missense ACTR10 1 83116 1.20314E-5 41558 0 7.0086E-4
14-58690571-T-C p.Ile262Thr missense ACTR10 1 83112 1.2032E-5 41556 0 NA
14-58690580-A-T c.788+6A>T splice_region ACTR10 2 83014 2.40923E-5 41507 0 NA
14-58697109-C-G c.789-8C>G splice_region ACTR10 10 80146 1.24772E-4 40073 0 NA
14-58697112-A-G c.789-5A>G splice_region ACTR10 5 80380 6.22045E-5 40190 0 3.19264E-5
14-58697141-T-C p.Ter35Argext*? stop_lost ACTR10 1 81136 1.2325E-5 40568 0 NA
14-58697154-G-A p.Glu276Lys missense ACTR10 1 81334 1.2295E-5 40667 0 8.28858E-6
14-58697159-G-A p.Glu277Glu synonymous ACTR10 2 81294 2.46021E-5 40647 0 NA
14-58697190-C-T p.Leu288Phe missense ACTR10 1 80858 1.23674E-5 40429 0 NA
14-58697198-G-GTGTCCGATAGACACCAGGAAGCAACTAGCAGAGAATTTGGTAGTCATA c.870_870+1insTGTCCGATAGACACCAGGAAGCAACTAGCAGAGAATTTGGTAGTCATA splice_donor ACTR10 2 78838 2.53685E-5 39419 1 NA
14-58697198-GGTATTT-G c.870+1_870+6delGTATTT splice_donor ACTR10 1 78838 1.26842E-5 39419 0 NA
14-58697198-G-GT c.870_870+1insT splice_donor ACTR10 2 78838 2.53685E-5 39419 1 NA
14-58697198-GGTATTTTATCT-G c.870+1_870+11delGTATTTTATCT splice_donor ACTR10 4 78838 5.0737E-5 39419 1 NA
14-58697795-C-CAG c.868-3_868-2insAG splice_acceptor ACTR10 2029 4160 0.48774 2080 605 0.618149
14-58697797-G-GAA p.Cys290fs frameshift ACTR10 1 4592 2.1777E-4 2296 0 2.01993E-4
14-58698786-T-G p.Cys291Trp missense+splice_region ACTR10 1 83006 1.20473E-5 41503 0 3.99036E-6
14-58698789-G-A p.Pro292Pro synonymous ACTR10 2 83032 2.40871E-5 41516 0 5.183E-5
14-58698791-T-C p.Ile293Thr missense ACTR10 1 83058 1.20398E-5 41529 0 3.58603E-5
14-58698795-C-T p.Asp294Asp synonymous ACTR10 1 83078 1.20369E-5 41539 0 3.19326E-5
14-58698814-G-A p.Glu301Lys missense ACTR10 1 83152 1.20262E-5 41576 0 3.9794E-6
14-58698816-G-T p.Glu301Asp missense ACTR10 1 83160 1.2025E-5 41580 0 NA
14-58698826-G-A p.Val305Ile missense ACTR10 1 83182 1.20218E-5 41591 0 NA
14-58698844-A-G p.Met311Val missense ACTR10 10 83212 1.20175E-4 41606 0 0.00137363
14-58698862-C-T p.His317Tyr missense ACTR10 2 83202 2.40379E-5 41601 0 NA
14-58698869-T-G p.Leu319Trp missense ACTR10 2 83214 2.40344E-5 41607 0 8.23886E-6
14-58698885-G-A p.Arg324Arg synonymous ACTR10 1 83184 1.20215E-5 41592 0 NA
14-58698895-G-A p.Glu328Lys missense ACTR10 4 83142 4.81105E-5 41571 0 NA
14-58698900-A-G p.Lys329Lys synonymous ACTR10 1 83138 1.20282E-5 41569 0 NA
14-58698902-C-A p.Pro330Gln missense ACTR10 7 83140 8.41953E-5 41570 0 3.21523E-5
14-58698926-C-T p.Thr338Ile missense ACTR10 1 83100 1.20337E-5 41550 0 NA
14-58698929-A-G p.Lys339Arg missense ACTR10 1 83094 1.20346E-5 41547 0 NA
14-58698938-G-A p.Arg342Gln missense ACTR10 10 83020 1.20453E-4 41510 0 0.00100806
14-58698953-C-T p.Pro347Leu missense ACTR10 2 82992 2.40987E-5 41496 0 NA
14-58698962-C-T p.Ala350Val missense ACTR10 1 82988 1.20499E-5 41494 0 3.21048E-5
14-58698982-G-T p.Gly357* stop_gained ACTR10 2 82910 2.41225E-5 41455 0 3.19734E-5
14-58698986-G-T c.1072+1G>T splice_donor ACTR10 2 82854 2.41388E-5 41427 0 NA
14-58698986-G-GGGC c.1072+1_1072+2insGGC splice_donor ACTR10 1 82852 1.20697E-5 41426 0 NA
14-58698993-T-C c.1072+8T>C splice_region ACTR10 1 82698 1.20922E-5 41349 0 NA
14-58701085-CAG-C c.1073-2_1073-1delAG splice_acceptor ACTR10 1 81070 1.2335E-5 40535 0 4.4678E-6
14-58701088-G-C p.Gly358Ala missense+splice_region ACTR10 1 81062 1.23362E-5 40531 0 9.5584E-5
14-58701091-C-T p.Ala359Val missense ACTR10 3 81088 3.69968E-5 40544 0 0.00100705
14-58701127-G-A p.Arg371His missense ACTR10 3 82988 3.61498E-5 41494 0 1.6494E-5
14-58701132-G-A p.Val373Ile missense ACTR10 2 83064 2.40778E-5 41532 0 NA
14-58701151-A-G p.Asn379Ser missense ACTR10 1 83196 1.20198E-5 41598 0 NA
14-58701157-C-T p.Thr381Met missense ACTR10 1 83198 1.20195E-5 41599 0 1.99106E-5
14-58701158-G-A p.Thr381Thr synonymous ACTR10 1 83206 1.20184E-5 41603 0 3.98216E-6
14-58701162-C-T p.Arg383Cys missense ACTR10 1 83204 1.20187E-5 41602 0 3.9807E-6
14-58701163-G-A p.Arg383His missense ACTR10 1 83210 1.20178E-5 41605 0 6.36943E-5
14-58701164-T-C p.Arg383Arg synonymous ACTR10 2 83216 2.40338E-5 41608 0 2.47117E-5
14-58701183-C-G p.Leu390Val missense ACTR10 1 83216 1.20169E-5 41608 0 NA
14-58701185-C-G p.Leu390Leu synonymous ACTR10 3 83208 3.60542E-5 41604 0 8.2375E-6
14-58701187-A-G p.Asn391Ser missense ACTR10 4 83210 4.80711E-5 41605 0 8.35701E-5
14-58701203-AATG-A p.Met398del conservative_inframe_deletion ACTR10 1 83214 1.20172E-5 41607 0 1.19371E-5
14-58701204-A-G p.Met397Val missense ACTR10 1 83222 1.20161E-5 41611 0 1.6478E-5
14-58701206-G-A p.Met397Ile missense ACTR10 1 83210 1.20178E-5 41605 0 8.23886E-6
14-58701218-C-T p.Val401Val synonymous ACTR10 1 83200 1.20192E-5 41600 0 1.64818E-5
14-58701218-C-G p.Val401Val synonymous ACTR10 1 83200 1.20192E-5 41600 0 3.18634E-5
14-58701219-G-A p.Gly402Arg missense ACTR10 3 83196 3.60594E-5 41598 0 3.18593E-5
14-58701230-A-G p.Gln405Gln synonymous ACTR10 2 83190 2.40414E-5 41595 0 3.18471E-5
14-58701234-C-T p.Pro407Ser missense ACTR10 3 83180 3.60664E-5 41590 0 NA
14-58701251-A-G p.Ala412Ala synonymous ACTR10 1 83120 1.20308E-5 41560 0 NA