Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-24819600-A-T c.-275+4A>T splice_region ADORA2A 1 94 0.0106383 47 0 NA
22-24827602-G-A n.500G>A splice_region ADORA2A 1 45300 2.20751E-5 22650 0 NA
22-24827610-G-T n.500+8G>T splice_region ADORA2A 1 43022 2.32439E-5 21511 0 NA
22-24829179-C-G c.-194C>G 5_prime_UTR_premature_start_codon_gain ADORA2A 1 33110 3.02024E-5 16555 0 2.22958E-4
22-24829223-C-T c.-150C>T 5_prime_UTR_premature_start_codon_gain ADORA2A 1 48880 2.04583E-5 24440 0 NA
22-24829270-C-T c.-103C>T 5_prime_UTR_premature_start_codon_gain ADORA2A 4 64280 6.22278E-5 32140 0 7.20461E-4
22-24829321-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain ADORA2A 1 76834 1.30151E-5 38417 0 NA
22-24829338-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ADORA2A 2 78520 2.54712E-5 39260 0 2.23528E-4
22-24829345-G-T c.-28G>T 5_prime_UTR_premature_start_codon_gain ADORA2A 1 79488 1.25805E-5 39744 0 9.75039E-6
22-24829345-G-A c.-28G>A 5_prime_UTR_premature_start_codon_gain ADORA2A 7 79488 8.80636E-5 39744 0 1.05708E-4
22-24829362-C-T c.-11C>T 5_prime_UTR_premature_start_codon_gain ADORA2A 3 80446 3.72921E-5 40223 0 6.23649E-5
22-24829383-T-C p.Met4Thr missense ADORA2A 1 81072 1.23347E-5 40536 0 1.26429E-4
22-24829390-C-T p.Ser6Ser splice_region+synonymous ADORA2A 1 81310 1.22986E-5 40655 0 3.18735E-5
22-24829392-C-T p.Ser7Leu missense ADORA2A 3 81356 3.6875E-5 40678 0 2.41949E-5
22-24829393-G-A p.Ser7Ser synonymous ADORA2A 2 81426 2.45622E-5 40713 0 5.03525E-4
22-24829394-G-C p.Val8Leu missense ADORA2A 1 81484 1.22723E-5 40742 0 NA
22-24829404-C-T p.Thr11Met missense ADORA2A 1 81844 1.22184E-5 40922 0 3.18817E-5
22-24829405-G-A p.Thr11Thr synonymous ADORA2A 4 81904 4.88377E-5 40952 0 5.03525E-4
22-24829406-G-A p.Val12Met missense ADORA2A 2 81932 2.44105E-5 40966 0 3.18654E-5
22-24829409-G-A p.Glu13Lys missense ADORA2A 1 82000 1.21951E-5 41000 0 3.99214E-6
22-24829415-G-A p.Ala15Thr missense ADORA2A 5 82206 6.08228E-5 41103 0 5.03525E-4
22-24829416-C-T p.Ala15Val missense ADORA2A 2 82238 2.43197E-5 41119 0 7.97715E-6
22-24829429-G-A p.Leu19Leu synonymous ADORA2A 1 82466 1.21262E-5 41233 0 2.38947E-5
22-24829433-A-G p.Ile21Val missense ADORA2A 1 82606 1.21057E-5 41303 0 5.03525E-4
22-24829436-C-G p.Leu22Val missense ADORA2A 1 82648 1.20995E-5 41324 0 3.98108E-6
22-24829440-G-A p.Gly23Asp missense ADORA2A 1 82692 1.20931E-5 41346 0 8.312E-6
22-24829455-G-C p.Cys28Ser missense ADORA2A 2 82800 2.41546E-5 41400 0 1.19381E-5
22-24829463-G-A p.Val31Met missense ADORA2A 1 82910 1.20613E-5 41455 0 NA
22-24829465-G-T p.Val31Val synonymous ADORA2A 1 82918 1.20601E-5 41459 0 7.95691E-6
22-24829475-A-T p.Ser35Cys missense ADORA2A 1 82960 1.2054E-5 41480 0 NA
22-24829486-G-A p.Gln38Gln synonymous ADORA2A 1 82984 1.20505E-5 41492 0 NA
22-24829489-C-T p.Asn39Asn synonymous ADORA2A 2 82976 2.41034E-5 41488 0 5.03525E-4
22-24829490-G-A p.Val40Ile missense ADORA2A 4 82974 4.82079E-5 41487 0 1.89719E-4
22-24829509-T-C p.Val46Ala missense ADORA2A 2 82978 2.41028E-5 41489 0 NA
22-24829510-G-A p.Val46Val synonymous ADORA2A 1 82978 1.20514E-5 41489 0 NA
22-24829521-C-T p.Ala50Val missense ADORA2A 323 82760 0.00390285 41380 0 0.00956697
22-24829522-G-A p.Ala50Ala synonymous ADORA2A 8 82786 9.66347E-5 41393 0 0.0020141
22-24829531-C-T p.Ile53Ile synonymous ADORA2A 1 82762 1.20828E-5 41381 0 2.47594E-5
22-24829532-G-A p.Ala54Thr missense ADORA2A 2 82738 2.41727E-5 41369 0 8.25409E-6
22-24829539-G-A p.Gly56Asp missense ADORA2A 1 82768 1.2082E-5 41384 0 3.97931E-6
22-24829546-C-T p.Leu58Leu synonymous ADORA2A 1 82746 1.20852E-5 41373 0 3.97886E-6
22-24829576-C-T p.Thr68Thr synonymous ADORA2A 1 82694 1.20928E-5 41347 0 3.18423E-5
22-24829586-G-A p.Ala72Thr missense ADORA2A 1 82588 1.21083E-5 41294 0 2.47382E-5
22-24829597-C-T p.His75His synonymous ADORA2A 15 82712 1.81352E-4 41356 0 6.25E-4
22-24829598-G-A p.Gly76Ser missense ADORA2A 1 82696 1.20925E-5 41348 0 NA
22-24829604-CTCT-C p.Phe79del conservative_inframe_deletion ADORA2A 1 82718 1.20893E-5 41359 0 3.9821E-6
22-24829622-G-A p.Val84Ile missense ADORA2A 1 82592 1.21077E-5 41296 0 5.03525E-4
22-24829636-G-A p.Thr88Thr synonymous ADORA2A 3 82372 3.64201E-5 41186 0 9.55536E-5
22-24829639-G-C p.Gln89His missense ADORA2A 2 82396 2.4273E-5 41198 0 8.24226E-6
22-24829663-C-T p.Ala97Ala synonymous ADORA2A 1 82152 1.21726E-5 41076 0 9.07351E-5
22-24829691-C-T p.Arg107Cys missense ADORA2A 4 81686 4.8968E-5 40843 0 2.0348E-5
22-24829691-C-A p.Arg107Ser missense ADORA2A 1 81686 1.2242E-5 40843 0 NA
22-24836545-C-T c.333-6C>T splice_region ADORA2A 1 83172 1.20233E-5 41586 0 NA
22-24836569-C-T p.Thr117Thr synonymous ADORA2A 1 83250 1.2012E-5 41625 0 3.60179E-5
22-24836574-C-T p.Thr119Met missense ADORA2A 2 83256 2.40223E-5 41628 0 3.18715E-5
22-24836579-G-T p.Ala121Ser missense ADORA2A 1 83290 1.20062E-5 41645 0 8.96443E-6
22-24836592-T-C p.Ile125Thr missense ADORA2A 1 83286 1.20068E-5 41643 0 8.88368E-6
22-24836602-C-G p.Cys128Trp missense ADORA2A 1 83280 1.20077E-5 41640 0 NA
22-24836606-G-A p.Val130Met missense ADORA2A 1 83282 1.20074E-5 41641 0 5.7198E-5
22-24836609-C-T p.Leu131Leu synonymous ADORA2A 8 83276 9.60661E-5 41638 0 6.12552E-5
22-24836609-C-G p.Leu131Val missense ADORA2A 1 83276 1.20083E-5 41638 0 NA
22-24836613-C-T p.Ser132Leu missense ADORA2A 1 83288 1.20065E-5 41644 0 NA
22-24836614-G-A p.Ser132Ser synonymous ADORA2A 1 83286 1.20068E-5 41643 0 3.62959E-5
22-24836620-C-T p.Ala134Ala synonymous ADORA2A 1 83282 1.20074E-5 41641 0 8.58163E-6
22-24836623-C-T p.Ile135Ile synonymous ADORA2A 13 83276 1.56107E-4 41638 0 6.41308E-5
22-24836624-G-A p.Gly136Ser missense ADORA2A 2 83282 2.40148E-5 41641 0 3.18695E-5
22-24836642-G-A p.Gly142Ser missense ADORA2A 2 83250 2.4024E-5 41625 0 NA
22-24836650-C-T p.Asn144Asn synonymous ADORA2A 260 83226 0.00312402 41613 1 0.00625
22-24836657-G-A p.Gly147Ser missense ADORA2A 584 83204 0.00701889 41602 11 0.0135092
22-24836657-G-T p.Gly147Cys missense ADORA2A 7 83218 8.41164E-5 41609 0 3.18613E-5
22-24836658-GTCA-G p.Gln148del disruptive_inframe_deletion ADORA2A 1 83206 1.20184E-5 41603 0 NA
22-24836661-A-G p.Gln148Arg missense ADORA2A 1 83206 1.20184E-5 41603 0 0.00100705
22-24836671-G-A p.Glu151Glu synonymous ADORA2A 2 83210 2.40356E-5 41605 0 0.00100705
22-24836683-C-T p.His155His synonymous ADORA2A 1 83174 1.2023E-5 41587 0 6.25E-4
22-24836684-T-C p.Ser156Pro missense ADORA2A 1 83170 1.20236E-5 41585 0 NA
22-24836690-G-A p.Gly158Ser missense ADORA2A 2 83168 2.40477E-5 41584 0 8.24661E-6
22-24836695-C-T p.Cys159Cys synonymous ADORA2A 1 83170 1.20236E-5 41585 0 3.29837E-5
22-24836696-G-A p.Gly160Arg missense ADORA2A 17 83188 2.04356E-4 41594 0 2.23029E-4
22-24836699-G-A p.Glu161Lys missense ADORA2A 1 83184 1.20215E-5 41592 0 1.19321E-5
22-24836700-A-T p.Glu161Val missense ADORA2A 1 83180 1.20221E-5 41590 0 3.9775E-6
22-24836704-C-T p.Gly162Gly synonymous ADORA2A 1 83182 1.20218E-5 41591 0 5.03525E-4
22-24836707-A-G p.Gln163Gln synonymous ADORA2A 4 83188 4.80839E-5 41594 1 NA
22-24836711-G-T p.Ala165Ser missense ADORA2A 4 83172 4.80931E-5 41586 0 2.78394E-5
22-24836757-T-C p.Phe180Ser missense ADORA2A 1 83278 1.2008E-5 41639 0 8.23696E-6
22-24836768-G-A p.Ala184Thr missense ADORA2A 2 83268 2.40188E-5 41634 0 9.5584E-5
22-24836772-G-C p.Cys185Ser missense ADORA2A 1 83262 1.20103E-5 41631 0 NA
22-24836790-T-C p.Leu191Pro missense ADORA2A 1 83234 1.20143E-5 41617 0 3.97665E-6
22-24836796-T-C p.Met193Thr missense ADORA2A 1 83218 1.20166E-5 41609 0 NA
22-24836797-G-A p.Met193Ile missense ADORA2A 1 83220 1.20163E-5 41610 0 NA
22-24836802-G-C p.Gly195Ala missense ADORA2A 3 83182 3.60655E-5 41591 0 3.97693E-6
22-24836813-C-T p.Arg199Trp missense ADORA2A 1 83146 1.2027E-5 41573 0 3.18183E-5
22-24836827-G-A p.Ala203Ala synonymous ADORA2A 2 83016 2.40917E-5 41508 0 5.03525E-4
22-24836829-C-T p.Ala204Val missense ADORA2A 1 82980 1.20511E-5 41490 0 NA
22-24836830-G-A p.Ala204Ala synonymous ADORA2A 5 82962 6.02686E-5 41481 0 3.18776E-5
22-24836830-G-GC p.Arg205fs frameshift ADORA2A 1 82962 1.20537E-5 41481 0 NA
22-24836832-G-A p.Arg205Gln missense ADORA2A 6 82974 7.23118E-5 41487 0 1.64772E-5
22-24836833-A-G p.Arg205Arg synonymous ADORA2A 1 82978 1.20514E-5 41489 0 3.97826E-6
22-24836834-C-T p.Arg206* stop_gained ADORA2A 1 82974 1.2052E-5 41487 0 3.18634E-5
22-24836835-G-A p.Arg206Gln missense ADORA2A 15 82982 1.80762E-4 41491 0 4.77441E-5
22-24836861-C-T p.Pro215Ser missense ADORA2A 1 82896 1.20633E-5 41448 0 NA
22-24836862-C-T p.Pro215Leu missense ADORA2A 1 82922 1.20595E-5 41461 0 3.18532E-5
22-24836869-G-A p.Pro217Pro synonymous ADORA2A 4 82930 4.82335E-5 41465 0 7.41485E-5
22-24836871-G-A p.Gly218Glu missense ADORA2A 3 82946 3.61681E-5 41473 0 NA
22-24836878-G-A p.Arg220Arg synonymous ADORA2A 1 82952 1.20552E-5 41476 0 7.95691E-6
22-24836883-G-A p.Arg222Gln missense ADORA2A 5 82960 6.027E-5 41480 0 0.00125
22-24836899-G-A p.Lys227Lys synonymous ADORA2A 2 83026 2.40888E-5 41513 0 3.18634E-5
22-24836904-T-A p.Val229Asp missense ADORA2A 1 83022 1.2045E-5 41511 0 NA
22-24836917-G-A p.Lys233Lys synonymous ADORA2A 2 83052 2.40813E-5 41526 0 1.64766E-5
22-24836929-C-A p.Ile237Ile synonymous ADORA2A 443 83072 0.00533272 41536 8 0.00962642
22-24836946-C-T p.Ala243Val missense ADORA2A 1 83070 1.2038E-5 41535 0 3.18695E-5
22-24836959-G-A p.Leu247Leu synonymous ADORA2A 24 83056 2.88962E-4 41528 2 0.00352467
22-24836977-C-T p.Asn253Asn synonymous ADORA2A 2 83070 2.40761E-5 41535 0 NA
22-24836998-C-T p.Pro260Pro synonymous ADORA2A 22 83068 2.64843E-4 41534 0 0.00100705
22-24836999-G-A p.Asp261Asn missense ADORA2A 4 83084 4.8144E-5 41542 0 6.25E-4
22-24837003-G-A p.Cys262Tyr missense ADORA2A 2 83058 2.40796E-5 41529 0 NA
22-24837010-C-T p.His264His synonymous ADORA2A 1 83092 1.20349E-5 41546 0 5.03525E-4
22-24837013-C-T p.Ala265Ala synonymous ADORA2A 6 83098 7.22039E-5 41549 0 0.003125
22-24837013-C-A p.Ala265Ala synonymous ADORA2A 2 83098 2.4068E-5 41549 0 NA
22-24837037-C-T p.Ala273Ala synonymous ADORA2A 2 83142 2.40552E-5 41571 0 NA
22-24837041-G-A p.Val275Ile missense ADORA2A 11 83142 1.32304E-4 41571 0 2.5481E-4
22-24837043-C-T p.Val275Val synonymous ADORA2A 1 83154 1.20259E-5 41577 0 NA
22-24837052-C-T p.His278His synonymous ADORA2A 3 83130 3.60881E-5 41565 0 3.18431E-5
22-24837057-A-G p.Asn280Ser missense ADORA2A 1 83144 1.20273E-5 41572 0 8.23981E-6
22-24837083-G-A p.Ala289Thr missense ADORA2A 2 83064 2.40778E-5 41532 0 8.3033E-6
22-24837087-A-T p.Tyr290Phe missense ADORA2A 10 83156 1.20256E-4 41578 0 3.18492E-5
22-24837090-G-A p.Arg291His missense ADORA2A 1 83196 1.20198E-5 41598 0 8.24294E-6
22-24837096-G-A p.Arg293His missense ADORA2A 1 83200 1.20192E-5 41600 0 3.18492E-5
22-24837097-C-T p.Arg293Arg synonymous ADORA2A 3 83204 3.6056E-5 41602 0 4.1216E-5
22-24837103-C-T p.Phe295Phe synonymous ADORA2A 420 83214 0.00504723 41607 5 0.00474462
22-24837104-C-T p.Arg296Cys missense ADORA2A 1 83224 1.20158E-5 41612 0 3.97728E-6
22-24837117-G-A p.Arg300His missense ADORA2A 5 83228 6.00759E-5 41614 0 3.18532E-5
22-24837122-A-G p.Ile302Val missense ADORA2A 2 83224 2.40315E-5 41612 0 NA
22-24837125-A-T p.Ile303Phe missense ADORA2A 1 83214 1.20172E-5 41607 0 NA
22-24837128-C-T p.Arg304Cys missense ADORA2A 1 83222 1.20161E-5 41611 0 3.1841E-5
22-24837129-G-A p.Arg304His missense ADORA2A 6 83210 7.21067E-5 41605 0 1.59236E-4
22-24837136-C-T p.His306His synonymous ADORA2A 1 83208 1.20181E-5 41604 0 3.1841E-5
22-24837137-G-A p.Val307Ile missense ADORA2A 2 83200 2.40385E-5 41600 0 6.36862E-5
22-24837142-G-A p.Leu308Leu synonymous ADORA2A 1 83196 1.20198E-5 41598 0 NA
22-24837144-G-A p.Arg309Lys missense ADORA2A 2 83196 2.40396E-5 41598 0 8.25832E-6
22-24837170-GGCACCAGT-G p.Thr319fs frameshift ADORA2A 1 83038 1.20427E-5 41519 0 NA
22-24837175-C-T p.Thr319Thr synonymous ADORA2A 2 82972 2.41045E-5 41486 0 NA
22-24837182-C-T p.Arg322Trp missense ADORA2A 1 82890 1.20642E-5 41445 0 3.18512E-5
22-24837183-G-A p.Arg322Gln missense ADORA2A 2 82884 2.41301E-5 41442 0 5.03525E-4
22-24837185-G-A p.Val323Ile missense ADORA2A 1 82840 1.20715E-5 41420 0 NA
22-24837199-T-C p.His327His synonymous ADORA2A 1 82646 1.20998E-5 41323 0 1.19699E-5
22-24837207-A-G p.Asp330Gly missense ADORA2A 1 82452 1.21283E-5 41226 0 8.44381E-6
22-24837208-C-T p.Asp330Asp synonymous ADORA2A 1 82362 1.21415E-5 41181 0 8.4578E-6
22-24837209-G-A p.Gly331Arg missense ADORA2A 2 82396 2.4273E-5 41198 0 3.38341E-5
22-24837217-G-C p.Gln333His missense ADORA2A 2 82220 2.4325E-5 41110 0 NA
22-24837218-G-A p.Val334Ile missense ADORA2A 2 82180 2.43368E-5 41090 0 1.70343E-5
22-24837227-C-T p.Arg337Cys missense ADORA2A 1 82092 1.21815E-5 41046 0 8.56781E-6
22-24837228-G-A p.Arg337His missense ADORA2A 2 82094 2.43623E-5 41047 0 1.71374E-5
22-24837235-C-T p.Asn339Asn synonymous ADORA2A 2 81952 2.44045E-5 40976 0 1.72864E-5
22-24837236-G-A p.Gly340Ser missense ADORA2A 7 81924 8.5445E-5 40962 0 0.00100705
22-24837243-C-T p.Pro342Leu missense ADORA2A 2 82058 2.4373E-5 41029 0 1.69336E-4
22-24837244-G-A p.Pro342Pro synonymous ADORA2A 2 82004 2.43891E-5 41002 0 8.06822E-6
22-24837248-G-A p.Gly344Arg missense ADORA2A 1 82016 1.21927E-5 41008 0 1.20838E-5
22-24837262-C-T p.Asn348Asn synonymous ADORA2A 950 81882 0.0116021 40941 29 0.0231254
22-24837263-G-A p.Gly349Ser missense ADORA2A 1 81922 1.22067E-5 40961 0 1.75211E-5
22-24837273-C-T p.Pro352Leu missense ADORA2A 1 81762 1.22306E-5 40881 0 3.18552E-5
22-24837274-C-T p.Pro352Pro synonymous ADORA2A 2 81782 2.44553E-5 40891 0 8.84643E-6
22-24837284-C-T p.Arg356Trp missense ADORA2A 3 81674 3.67314E-5 40837 0 3.18695E-5
22-24837285-G-A p.Arg356Gln missense ADORA2A 6 81668 7.34682E-5 40834 0 6.25E-4
22-24837286-G-C p.Arg356Arg synonymous ADORA2A 1 81676 1.22435E-5 40838 0 NA
22-24837288-G-C p.Arg357Thr missense ADORA2A 1 81670 1.22444E-5 40835 0 NA
22-24837290-C-T p.Pro358Ser missense ADORA2A 5 81582 6.1288E-5 40791 0 6.37308E-5
22-24837291-C-G p.Pro358Arg missense ADORA2A 2 81560 2.45218E-5 40780 0 NA
22-24837294-A-G p.Asn359Ser missense ADORA2A 4 81592 4.90244E-5 40796 0 2.08172E-5
22-24837301-T-C p.Tyr361Tyr synonymous ADORA2A 38610 74272 0.519846 37136 9791 0.545259
22-24837302-G-A p.Ala362Thr missense ADORA2A 2 81384 2.45749E-5 40692 0 NA
22-24837307-G-A p.Leu363Leu synonymous ADORA2A 1 81292 1.23013E-5 40646 0 NA
22-24837309-G-T p.Gly364Val missense ADORA2A 1 81160 1.23213E-5 40580 0 3.18654E-5
22-24837316-G-A p.Val366Val synonymous ADORA2A 1 80762 1.23821E-5 40381 0 8.87343E-6
22-24837318-G-A p.Ser367Asn missense ADORA2A 1 80654 1.23986E-5 40327 0 3.96207E-5
22-24837321-G-C p.Gly368Ala missense ADORA2A 3 80466 3.72828E-5 40233 0 5.04032E-4
22-24837325-G-C p.Gly369Gly synonymous ADORA2A 2 80108 2.49663E-5 40054 0 0.00105156
22-24837329-G-A p.Ala371Thr missense ADORA2A 1 79626 1.25587E-5 39813 0 NA
22-24837357-T-TC p.Asp382fs frameshift ADORA2A 1 75918 1.31721E-5 37959 0 1.97052E-5
22-24837364-C-T p.Asp382Asp synonymous ADORA2A 8 74522 1.07351E-4 37261 0 0.00100806
22-24837365-G-A p.Val383Met missense ADORA2A 5 74192 6.73927E-5 37096 0 4.03714E-5
22-24837373-C-A p.Leu385Leu synonymous ADORA2A 1 72304 1.38305E-5 36152 0 1.97363E-5
22-24837380-C-T p.His388Tyr missense ADORA2A 1 70970 1.40905E-5 35485 0 1.96738E-5
22-24837387-T-C p.Leu390Pro missense ADORA2A 1 69528 1.43827E-5 34764 0 1.10611E-5
22-24837395-G-A p.Val393Met missense ADORA2A 1 67910 1.47254E-5 33955 0 NA
22-24837419-G-C p.Asp401His missense ADORA2A 2 61624 3.24549E-5 30812 0 NA
22-24837424-C-A p.Asp402Glu missense ADORA2A 213 59736 0.00356569 29868 0 0.00957661
22-24837425-C-T p.Pro403Ser missense ADORA2A 1 59478 1.68129E-5 29739 0 5.88644E-6
22-24837447-G-C p.Gly410Ala missense ADORA2A 1 54524 1.83405E-5 27262 0 3.18654E-5