Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-29248845-C-G c.-188C>G 5_prime_UTR_premature_start_codon_gain ADAP2 1 15610 6.40615E-5 7805 0 NA
17-29248897-G-T c.-136G>T 5_prime_UTR_premature_start_codon_gain ADAP2 3 23184 1.294E-4 11592 0 NA
17-29248954-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain ADAP2 11 27986 3.93054E-4 13993 0 0.00147219
17-29248984-G-T c.-49G>T 5_prime_UTR_premature_start_codon_gain ADAP2 2 31470 6.35526E-5 15735 0 NA
17-29249036-G-C p.Gly2Arg missense ADAP2 2 35146 5.69055E-5 17573 0 NA
17-29249045-G-C p.Glu5Gln missense ADAP2 2 35428 5.64525E-5 17714 0 NA
17-29249049-G-A p.Arg6His missense ADAP2 1 35512 2.81595E-5 17756 0 NA
17-29249065-G-A p.Leu11Leu synonymous ADAP2 1 35820 2.79174E-5 17910 0 3.20472E-5
17-29249077-G-C p.Leu15Leu synonymous ADAP2 1 35802 2.79314E-5 17901 0 NA
17-29249082-C-G p.Ala17Gly missense ADAP2 1 35616 2.80773E-5 17808 0 NA
17-29249085-C-G p.Pro18Arg missense ADAP2 17 35614 4.7734E-4 17807 0 0.00316456
17-29249092-A-C p.Thr20Thr synonymous ADAP2 29 35482 8.17316E-4 17741 0 0.00179476
17-29249098-C-T c.-78C>T 5_prime_UTR_premature_start_codon_gain ADAP2 1 35348 2.82901E-5 17674 0 3.20328E-4
17-29249099-G-C p.Ala23Pro missense ADAP2 2 35262 5.67183E-5 17631 0 NA
17-29249101-G-A p.Ala23Ala synonymous ADAP2 1 35244 2.83736E-5 17622 0 NA
17-29249109-C-A p.Ala26Asp missense ADAP2 2 34776 5.75109E-5 17388 1 NA
17-29249110-C-G p.Ala26Ala synonymous ADAP2 2 34610 5.77868E-5 17305 0 NA
17-29249110-C-A p.Ala26Ala synonymous ADAP2 1 34610 2.88934E-5 17305 0 NA
17-29249111-G-A p.Asp27Asn missense ADAP2 1 34586 2.89134E-5 17293 0 NA
17-29249126-G-GATCCCGACTGGGCCTCTTACAAGCTGGGGATCTTCATCTGTCTCAACTGCT c.94_94+1insATCCCGACTGGGCCTCTTACAAGCTGGGGATCTTCATCTGTCTCAACTGCT splice_donor ADAP2 4 34118 1.1724E-4 17059 2 NA
17-29249954-GCAGATCCCGA-G p.Asp32fs frameshift ADAP2 2 83254 2.40229E-5 41627 0 NA
17-29249957-G-A c.95-1G>A splice_acceptor ADAP2 1 83274 1.20085E-5 41637 0 NA
17-29249971-C-T p.Ala36Ala synonymous ADAP2 2 83300 2.40096E-5 41650 0 8.2371E-6
17-29249977-C-A p.Tyr38* stop_gained ADAP2 2 83312 2.40061E-5 41656 0 NA
17-29249978-A-C p.Lys39Gln missense ADAP2 2 83306 2.40079E-5 41653 0 NA
17-29249993-A-C p.Ile44Leu missense ADAP2 1 83336 1.19996E-5 41668 0 3.18715E-5
17-29249995-C-T p.Ile44Ile synonymous ADAP2 1 83344 1.19985E-5 41672 0 3.18492E-5
17-29250015-TC-T p.His52fs frameshift ADAP2 4 83354 4.79881E-5 41677 0 NA
17-29250024-A-G p.Asn54Ser missense ADAP2 1 83358 1.19964E-5 41679 0 NA
17-29250030-C-T p.Pro56Leu missense ADAP2 1 83366 1.19953E-5 41683 0 7.95608E-6
17-29250033-A-G p.Asp57Gly missense ADAP2 1 83366 1.19953E-5 41683 0 NA
17-29250053-G-C p.Val64Leu missense ADAP2 1 83370 1.19947E-5 41685 0 NA
17-29250077-A-G p.Ser72Gly missense ADAP2 1 83340 1.1999E-5 41670 0 NA
17-29250081-T-C p.Ile73Thr missense ADAP2 2 83334 2.39998E-5 41667 0 8.2375E-6
17-29250088-G-GTTTATGATCCACAATGGAAACCTCC c.225_225+1insTTTATGATCCACAATGGAAACCTCC splice_donor ADAP2 2 83312 2.40061E-5 41656 0 NA
17-29250089-G-A c.225+1G>A splice_donor ADAP2 13 83304 1.56055E-4 41652 0 1.56533E-4
17-29253822-C-T c.226-5C>T splice_region ADAP2 1 83202 1.20189E-5 41601 0 NA
17-29253827-G-A p.Val76Ile missense+splice_region ADAP2 1 83238 1.20137E-5 41619 0 NA
17-29253833-G-C p.Val78Leu missense ADAP2 1 83280 1.20077E-5 41640 0 NA
17-29253834-T-C p.Val78Ala missense ADAP2 84 83276 0.00100869 41638 0 0.00285976
17-29253837-T-C p.Val79Ala missense ADAP2 3 83312 3.60092E-5 41656 0 6.36821E-5
17-29253856-C-T p.His79His synonymous ADAP2 3 83364 3.59868E-5 41682 0 4.37438E-5
17-29253858-A-G p.Asn80Ser missense ADAP2 3 83364 3.59868E-5 41682 0 3.97681E-6
17-29253869-C-T p.Arg84Cys missense ADAP2 19 83354 2.27943E-4 41677 0 0.0020141
17-29253870-G-A p.Arg84His missense ADAP2 3 83356 3.59902E-5 41678 0 1.23579E-4
17-29253877-G-A p.Lys86Lys synonymous ADAP2 12 83374 1.4393E-4 41687 0 2.4719E-5
17-29253877-G-T p.Lys86Asn missense ADAP2 1 83374 1.19941E-5 41687 0 1.64794E-5
17-29253886-C-T p.Phe89Phe synonymous ADAP2 1 83362 1.19959E-5 41681 0 4.12038E-5
17-29253891-C-A p.Ala91Asp missense ADAP2 1 83362 1.19959E-5 41681 0 3.97665E-6
17-29253911-T-G p.Tyr98Asp missense ADAP2 2 83332 2.40004E-5 41666 0 3.30147E-5
17-29253928-C-A p.Asn103Lys missense ADAP2 1 83266 1.20097E-5 41633 0 3.97779E-6
17-29253935-C-G p.Leu106Val missense+splice_region ADAP2 4 83224 4.80631E-5 41612 0 3.35121E-5
17-29253937-G-A c.317+1G>A splice_donor ADAP2 2 83210 2.40356E-5 41605 0 NA
17-29253939-G-T c.317+3G>T splice_region ADAP2 1 83178 1.20224E-5 41589 0 8.42176E-6
17-29253941-G-A c.317+5G>A splice_region ADAP2 1 83170 1.20236E-5 41585 0 NA
17-29258930-G-A p.Arg114Gln missense ADAP2 1 83202 1.20189E-5 41601 0 4.94218E-5
17-29258933-C-T p.Ala115Val missense ADAP2 2 83240 2.40269E-5 41620 0 NA
17-29258947-C-T p.Arg120Trp missense ADAP2 1 83226 1.20155E-5 41613 0 6.3857E-5
17-29258948-G-A p.Arg120Gln missense ADAP2 3 83224 3.60473E-5 41612 0 4.94242E-5
17-29258972-C-T p.Thr128Ile missense ADAP2 1 83204 1.20187E-5 41602 0 NA
17-29258972-C-A p.Thr128Asn missense ADAP2 1 83204 1.20187E-5 41602 0 1.19318E-5
17-29258990-A-ACCGAGAAGGATTCCTGTGGAAGCGAGGAAGGG c.397+4_397+5insCCGAGAAGGATTCCTGTGGAAGCGAGGAAGGG splice_region ADAP2 1 83126 1.20299E-5 41563 0 NA
17-29258990-A-ACCGAGAAGGATTCCTGTGGAAGCGAGGAAGGGACAACTCAC c.397+4_397+5insCCGAGAAGGATTCCTGTGGAAGCGAGGAAGGGACAACTCAC splice_region ADAP2 1 83124 1.20302E-5 41562 0 NA
17-29261209-G-A p.Arg135Gln missense ADAP2 2 83242 2.40263E-5 41621 0 1.66556E-5
17-29261221-T-C p.Leu139Pro missense ADAP2 1 83306 1.20039E-5 41653 0 1.65848E-5
17-29261229-C-T p.Arg142* stop_gained ADAP2 1 83316 1.20025E-5 41658 0 3.97804E-6
17-29261230-G-A p.Arg142Gln missense ADAP2 1 83322 1.20016E-5 41661 0 8.27732E-6
17-29261233-G-A p.Gly143Glu missense ADAP2 1 83328 1.20008E-5 41664 0 3.97747E-6
17-29261239-A-G p.Asp145Gly missense ADAP2 50 83326 6.00053E-4 41663 0 3.89764E-4
17-29261277-G-A p.Ala158Thr missense ADAP2 1 83254 1.20114E-5 41627 0 8.35017E-6
17-29261286-G-C p.Gly161Arg missense ADAP2 1 83222 1.20161E-5 41611 0 NA
17-29261287-G-T p.Gly161Val missense ADAP2 4 83222 4.80642E-5 41611 0 5.05612E-5
17-29261287-G-A p.Gly161Asp missense ADAP2 4 83222 4.80642E-5 41611 0 3.1841E-5
17-29261298-T-A p.Tyr165Asn missense ADAP2 1 83156 1.20256E-5 41578 0 NA
17-29261309-G-A p.Lys168Lys synonymous ADAP2 2 83012 2.40929E-5 41506 0 NA
17-29271925-G-A p.Gly171Ser missense+splice_region ADAP2 1 82040 1.21892E-5 41020 0 8.29132E-6
17-29271932-G-T p.Ser173Ile missense ADAP2 9 82080 1.09649E-4 41040 0 9.55292E-5
17-29271934-C-T p.Pro174Ser missense ADAP2 1 82128 1.21761E-5 41064 0 NA
17-29271949-A-C p.Ser179Arg missense ADAP2 9 82348 1.09292E-4 41174 0 1.91083E-4
17-29271951-C-A p.Ser179Arg missense ADAP2 5 82386 6.06899E-5 41193 0 3.18471E-5
17-29271966-T-C p.Asn184Asn synonymous ADAP2 1 82646 1.20998E-5 41323 0 3.98178E-6
17-29271997-C-A p.Pro195Thr missense ADAP2 1 82996 1.20488E-5 41498 0 3.97845E-6
17-29272001-A-G p.His196Arg missense ADAP2 3 83042 3.61263E-5 41521 0 8.24498E-6
17-29272008-G-T p.Leu198Leu synonymous ADAP2 1 83070 1.2038E-5 41535 0 7.95678E-6
17-29272012-A-G p.Ile200Val missense ADAP2 2 83102 2.40668E-5 41551 0 6.37227E-5
17-29272014-C-T p.Ile200Ile synonymous ADAP2 1 83116 1.20314E-5 41558 0 NA
17-29272020-C-T p.Tyr202Tyr synonymous ADAP2 1 83116 1.20314E-5 41558 0 2.47325E-5
17-29272054-T-C p.Tyr214His missense ADAP2 10 82948 1.20557E-4 41474 0 3.58617E-5
17-29272060-G-C p.Glu216Gln missense ADAP2 1 82874 1.20665E-5 41437 0 NA
17-29272072-G-T c.657+1G>T splice_donor ADAP2 2 82658 2.41961E-5 41329 0 8.30013E-6
17-29272078-T-C c.657+7T>C splice_region ADAP2 2 82528 2.42342E-5 41264 0 NA
17-29276300-C-T c.658-5C>T splice_region ADAP2 104 82972 0.00125343 41486 1 0.00401248
17-29276301-G-A c.658-4G>A splice_region ADAP2 4 82898 4.82521E-5 41449 0 8.24701E-6
17-29276324-A-G p.Asn226Ser missense ADAP2 1 83184 1.20215E-5 41592 0 8.239E-6
17-29276331-C-T p.Leu228Leu synonymous ADAP2 1 83208 1.20181E-5 41604 0 NA
17-29276333-G-A p.Arg229His missense ADAP2 2 83196 2.40396E-5 41598 0 NA
17-29276341-C-T p.Arg232Cys missense ADAP2 2 83238 2.40275E-5 41619 0 7.9533E-6
17-29276342-G-A p.Arg232His missense ADAP2 3 83222 3.60482E-5 41611 0 4.94275E-5
17-29276351-A-G p.Tyr235Cys missense ADAP2 3 83234 3.6043E-5 41617 0 NA
17-29276365-T-C p.Phe240Leu missense ADAP2 1 83240 1.20135E-5 41620 0 3.97659E-6
17-29280308-C-T p.Leu248Leu splice_region+synonymous ADAP2 2 83162 2.40494E-5 41581 0 4.37588E-5
17-29280314-A-C p.Pro250Pro synonymous ADAP2 1 83216 1.20169E-5 41608 0 NA
17-29280347-C-T p.Phe261Phe synonymous ADAP2 1 83258 1.20109E-5 41629 0 3.97753E-6
17-29280349-T-C p.Met262Thr missense ADAP2 2 83266 2.40194E-5 41633 0 6.37633E-5
17-29280368-G-C p.Lys268Asn missense+splice_region ADAP2 1 83208 1.20181E-5 41604 0 NA
17-29280372-C-A c.804+4C>A splice_region ADAP2 3 83168 3.60716E-5 41584 0 2.56472E-5
17-29280372-C-G c.804+4C>G splice_region ADAP2 1 83168 1.20239E-5 41584 0 3.18857E-5
17-29281505-C-A p.Pro272Thr missense ADAP2 1 83214 1.20172E-5 41607 0 1.64758E-5
17-29281510-CA-C p.Lys274fs frameshift ADAP2 2 83212 2.4035E-5 41606 0 5.96478E-5
17-29281510-C-G p.Phe273Leu missense ADAP2 1 83212 1.20175E-5 41606 0 NA
17-29281524-T-C p.Phe278Ser missense ADAP2 1 83252 1.20117E-5 41626 0 NA
17-29281525-C-T p.Phe278Phe synonymous ADAP2 18 83254 2.16206E-4 41627 0 0.00251762
17-29281526-G-A p.Ala279Thr missense ADAP2 2 83228 2.40304E-5 41614 0 5.76625E-5
17-29281544-C-T p.Arg285Trp missense ADAP2 2 83214 2.40344E-5 41607 0 3.18613E-5
17-29281552-G-T p.Leu287Leu synonymous ADAP2 4 83186 4.8085E-5 41593 0 2.47133E-5
17-29281572-T-C p.Leu294Pro missense+splice_region ADAP2 1 83102 1.20334E-5 41551 0 1.6481E-5
17-29281573-G-C p.Leu294Leu splice_region+synonymous ADAP2 1 83116 1.20314E-5 41558 0 NA
17-29281574-G-GA c.882+1_882+2insA splice_donor ADAP2 1 83118 1.20311E-5 41559 0 NA
17-29281578-G-A c.882+5G>A splice_region ADAP2 12 83054 1.44484E-4 41527 0 6.25E-4
17-29281581-C-A c.882+8C>A splice_region ADAP2 1 83010 1.20467E-5 41505 0 3.18471E-5
17-29283259-G-T p.Asp295Tyr missense+splice_region ADAP2 1 82288 1.21524E-5 41144 0 1.19858E-5
17-29283260-A-T p.Asp295Val missense+splice_region ADAP2 1 82290 1.21521E-5 41145 0 8.32279E-6
17-29283263-C-A p.Ala296Asp missense ADAP2 2 82302 2.43007E-5 41151 0 3.99345E-6
17-29283263-C-G p.Ala296Gly missense ADAP2 1 82302 1.21504E-5 41151 0 NA
17-29283264-C-T p.Ala296Ala synonymous ADAP2 1 82346 1.21439E-5 41173 0 8.30096E-6
17-29283267-C-T p.Phe297Phe synonymous ADAP2 1 82328 1.21465E-5 41164 0 2.48645E-5
17-29283268-G-A p.Glu298Lys missense ADAP2 3 82360 3.64254E-5 41180 0 9.93756E-5
17-29283280-GT-G p.Asn306fs frameshift ADAP2 1 82528 1.21171E-5 41264 0 NA
17-29283316-T-C p.Tyr314His missense ADAP2 1 83042 1.20421E-5 41521 0 NA
17-29283318-C-T p.Tyr314Tyr synonymous ADAP2 3 83078 3.61106E-5 41539 0 1.15361E-4
17-29283330-C-A p.Pro318Pro synonymous ADAP2 1 83230 1.20149E-5 41615 0 8.23927E-6
17-29283341-G-A p.Arg322Gln missense ADAP2 1 83276 1.20083E-5 41638 0 6.37024E-5
17-29283342-A-G p.Arg322Arg synonymous ADAP2 19 83278 2.28151E-4 41639 0 7.4151E-5
17-29283349-C-T p.Arg325Cys missense ADAP2 2 83320 2.40038E-5 41660 0 7.95317E-6
17-29283350-G-A p.Arg325His missense ADAP2 2 83326 2.40021E-5 41663 0 3.18512E-5
17-29283355-A-C p.Lys327Gln missense ADAP2 1 83348 1.19979E-5 41674 0 NA
17-29283360-C-T p.Ala328Ala synonymous ADAP2 1 83352 1.19973E-5 41676 0 4.94315E-5
17-29283361-G-A p.Gly329Arg missense ADAP2 1 83362 1.19959E-5 41681 0 NA
17-29283370-A-G p.Ile332Val missense ADAP2 1 83378 1.19936E-5 41689 0 8.23832E-6
17-29283397-C-T p.Leu341Phe missense ADAP2 2 83374 2.39883E-5 41687 0 7.95292E-6
17-29283399-C-T p.Leu341Leu synonymous ADAP2 1 83368 1.1995E-5 41684 0 7.95292E-6
17-29283400-A-G p.Thr342Ala missense ADAP2 1 83370 1.19947E-5 41685 0 2.3858E-5
17-29283411-T-C c.400+2T>C splice_donor ADAP2 23 83342 2.75971E-4 41671 0 1.07118E-4
17-29283419-A-T p.Glu348Val missense ADAP2 5 83324 6.00067E-5 41662 0 NA
17-29283432-G-A p.Trp352* stop_gained ADAP2 1 83228 1.20152E-5 41614 0 NA
17-29283443-T-C p.Leu356Ser missense ADAP2 1 83118 1.20311E-5 41559 0 NA
17-29283445-C-T p.Arg357Trp missense ADAP2 3 83062 3.61176E-5 41531 0 3.18451E-5
17-29283446-G-A p.Arg357Gln missense ADAP2 22 83042 2.64926E-4 41521 1 2.22958E-4
17-29283463-C-T p.Pro363Ser missense ADAP2 5 82706 6.04551E-5 41353 0 NA
17-29283465-C-A p.Pro363Pro synonymous ADAP2 1 82682 1.20945E-5 41341 0 NA
17-29283471-G-A p.Thr365Thr synonymous ADAP2 4 82482 4.84954E-5 41241 0 3.18471E-5
17-29283473-C-T p.Pro366Leu missense ADAP2 2 82492 2.42448E-5 41246 0 NA
17-29283488-GT-G c.1111+2delT splice_donor ADAP2 26 82190 3.1634E-4 41095 0 4.4491E-4
17-29283490-A-G c.1111+3A>G splice_region ADAP2 1 82160 1.21714E-5 41080 0 NA
17-29283491-A-G c.1111+4A>G splice_region ADAP2 2 82144 2.43475E-5 41072 0 NA
17-29284853-C-T p.Thr371Ile missense+splice_region ADAP2 1 82082 1.21829E-5 41041 0 3.99971E-6
17-29284858-T-C p.Ser373Pro missense ADAP2 2 82146 2.43469E-5 41073 0 NA
17-29284862-CAGAGAGTGGCCG-C p.Glu375_Arg378del disruptive_inframe_deletion ADAP2 2 82230 2.4322E-5 41115 0 NA
17-29284862-C-T p.Thr374Ile missense ADAP2 1 82230 1.2161E-5 41115 0 3.18532E-5
17-29284864-G-A p.Glu375Lys missense ADAP2 1 82270 1.21551E-5 41135 0 4.00461E-6
17-29284873-C-A p.Arg378Ser missense ADAP2 2 82266 2.43114E-5 41133 0 NA
17-29284874-G-A p.Arg378His missense ADAP2 47 82238 5.71512E-4 41119 0 6.3743E-4
17-29284877-G-A p.Ser379Asn missense ADAP2 1 82280 1.21536E-5 41140 0 NA
17-29284880-G-C p.Ser380Thr missense ADAP2 7 82348 8.50051E-5 41174 0 6.37471E-5