Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-3053408-G-C n.273C>G splice_region AES 1 3464 2.88684E-4 1732 0 NA
19-3053461-C-T n.225-5G>A splice_region AES 1 6418 1.55812E-4 3209 0 9.56267E-5
19-3053820-A-G p.Asp264Asp synonymous AES 1 82020 1.21921E-5 41010 0 NA
19-3053823-C-T p.Ser263Ser synonymous AES 2 82054 2.43742E-5 41027 0 1.59317E-4
19-3053823-C-G p.Ser263Ser synonymous AES 5 82054 6.09355E-5 41027 0 3.18634E-5
19-3053824-G-A p.Ser263Leu missense AES 1 81990 1.21966E-5 40995 0 NA
19-3053829-C-T p.Glu261Glu synonymous AES 2 82122 2.4354E-5 41061 0 NA
19-3053831-C-T p.Glu261Lys missense AES 1 82146 1.21734E-5 41073 0 2.54712E-5
19-3053833-C-T p.Gly260Asp missense AES 2 82136 2.43499E-5 41068 0 NA
19-3053857-C-T p.Trp263* stop_gained AES 1 82030 1.21907E-5 41015 0 3.18776E-5
19-3053859-A-G p.Trp263Arg missense AES 1 82048 1.2188E-5 41024 0 NA
19-3053862-G-A p.Arg262* stop_gained AES 1 81996 1.21957E-5 40998 0 6.69985E-4
19-3053868-G-A p.Arg260Trp missense AES 2 81940 2.44081E-5 40970 0 5.03525E-4
19-3053874-G-A p.Gln258* stop_gained AES 1 81878 1.22133E-5 40939 0 8.43256E-6
19-3053904-C-T p.Gly248Arg missense AES 3 81336 3.6884E-5 40668 0 NA
19-3053907-C-T p.Ala247Thr missense AES 4 81148 4.92927E-5 40574 0 7.67041E-5
19-3053908-G-A p.Ala235Val missense AES 1 81094 1.23314E-5 40547 0 2.82263E-5
19-3053916-C-T p.Ala244Thr missense AES 2 80834 2.47421E-5 40417 0 8.57324E-6
19-3053918-AGAG-A p.Pro242del disruptive_inframe_deletion AES 1 80834 1.2371E-5 40417 0 3.1904E-5
19-3053925-G-A p.Pro241Ser missense AES 4 80614 4.96192E-5 40307 0 9.58973E-5
19-3053927-C-T p.Gly229Ser missense AES 6 80556 7.44823E-5 40278 0 2.03661E-5
19-3053928-G-A p.Arg240Trp missense AES 2 80548 2.48299E-5 40274 0 8.14405E-6
19-3053934-T-C p.Arg238Gly missense AES 4 80314 4.98045E-5 40157 0 3.18939E-5
19-3053938-C-G p.Ser225Thr missense AES 1 80126 1.24803E-5 40063 0 2.88624E-5
19-3053943-C-T p.Gly235Ser missense AES 85 80050 0.00106184 40025 0 6.92372E-4
19-3053946-C-T p.Gly234Ser missense AES 3 79860 3.75657E-5 39930 0 1.91424E-4
19-3053952-C-T p.Ala232Thr missense AES 3 79654 3.76629E-5 39827 0 9.56389E-5
19-3053958-C-T p.Ala230Thr missense AES 2 79354 2.52035E-5 39677 0 9.56633E-5
19-3053966-G-A p.Ala227Val missense AES 2 78972 2.53254E-5 39486 0 3.12611E-5
19-3053972-C-T p.Val214Met missense AES 8 78626 1.01748E-4 39313 0 1.07416E-4
19-3053973-G-A p.Arg225Cys missense AES 4 78828 5.07434E-5 39414 0 5.4534E-5
19-3053983-G-T p.Thr210Asn missense AES 1 78560 1.27291E-5 39280 0 NA
19-3053985-C-T p.Asp221Asn missense AES 1 78486 1.27411E-5 39243 0 NA
19-3054000-G-A p.Pro216Ser missense AES 4 77688 5.1488E-5 38844 0 5.20983E-5
19-3054038-GCTGCAGGGCGGGGGAGGGGAACATTAGCTGCCTGGGGCCCACCTGTCCCCCGCCCACCCGCCCAGGTCCCCATACATAC-G p.Val177fs frameshift AES 4 73868 5.41506E-5 36934 0 1.99968E-5
19-3054043-A-C c.574-5T>G splice_region AES 2 73014 2.7392E-5 36507 0 NA
19-3054047-C-T p.Arg200His missense AES 56 71186 7.86672E-4 35593 0 0.00114803
19-3054047-CGG-C p.Arg200fs frameshift AES 1 71194 1.40461E-5 35597 0 NA
19-3054048-G-A p.Arg200Cys missense AES 2 71008 2.81658E-5 35504 0 3.18857E-5
19-3054048-G-C p.Arg200Gly missense AES 1 71008 1.40829E-5 35504 0 3.18857E-5
19-3054073-G-A p.Pro191Pro synonymous AES 2 65758 3.04146E-5 32879 0 1.05611E-4
19-3054075-G-T p.Pro191Thr missense AES 1 65052 1.53723E-5 32526 0 7.04275E-5
19-3054081-C-G p.Gly189Arg missense AES 2 64228 3.11391E-5 32114 0 NA
19-3054084-T-TC p.Thr188fs frameshift AES 27 62852 4.29581E-4 31426 0 0.00116603
19-3054084-T-TCCCCCCCCCC p.Thr188fs frameshift AES 7 62698 1.11646E-4 31349 0 0.00136037
19-3054084-T-TCCCCCCCCCCCCC p.Thr188fs frameshift AES 3 62872 4.7716E-5 31436 0 5.50625E-4
19-3054084-T-TCC p.Thr188fs frameshift AES 13 62830 2.06908E-4 31415 0 NA
19-3054084-T-TCCCCCCCCCCC p.Thr188fs frameshift AES 4 62718 6.37775E-5 31359 0 0.00132798
19-3054084-T-TCCCCCCCCCCCC p.Gly187_Thr188insGlyGlyGlyGly conservative_inframe_insertion AES 7 62782 1.11497E-4 31391 0 0.00165188
19-3054084-T-TCCCCCCCCCCCCCC p.Thr188fs frameshift AES 3 62912 4.76857E-5 31456 0 3.23897E-4
19-3054084-T-TCCCCCCCCCCCCCCC p.Gly187_Thr188insGlyGlyGlyGlyGly conservative_inframe_insertion AES 1 62922 1.58927E-5 31461 0 NA
19-3054084-T-TCGGGGGGGGGCCCC p.Thr188fs frameshift AES 1 62886 1.59018E-5 31443 0 NA
19-3054084-T-TCGGGGGGGGGGCCCCCC p.Thr188fs frameshift AES 1 62890 1.59008E-5 31445 0 NA
19-3054084-T-TCGGGGGGGGGGCCCCCCC p.Gly187_Thr188insGlyGlyAlaProProPro conservative_inframe_insertion AES 1 62896 1.58993E-5 31448 0 NA
19-3054084-T-TCGGGGGGGGGGCCCCC p.Thr188fs frameshift AES 2 62902 3.17955E-5 31451 0 NA
19-3054084-T-TCGGGGGGGGGGCCCC p.Gly187_Thr188insGlyAlaProProPro conservative_inframe_insertion AES 1 62904 1.58972E-5 31452 0 NA
19-3054084-T-TCCCCCCCCCCCCCCCCCCCCCCC p.Thr188fs frameshift AES 1 62932 1.58902E-5 31466 0 NA
19-3054085-C-CGGGGGGGGGG p.Thr188fs frameshift AES 2 62726 3.18847E-5 31363 0 NA
19-3054085-C-T p.Gly187Gly synonymous AES 2 62822 3.1836E-5 31411 0 6.49224E-5
19-3054085-C-CGGGGGGG p.Thr188fs frameshift AES 1 62754 1.59352E-5 31377 0 NA
19-3054089-C-T p.Arg186Gln missense AES 10368 57158 0.181392 28579 665 0.513252
19-3054089-CG-TC p.Arg186Glu missense AES 1 60598 1.65022E-5 30299 0 NA
19-3054089-C-A p.Arg186Leu missense AES 3 60598 4.95066E-5 30299 0 6.72948E-6
19-3054089-CGC-TGT p.GlyArg185GlyGln missense AES 1 60600 1.65016E-5 30300 0 NA
19-3054089-C-G p.Arg186Pro missense AES 1 60600 1.65016E-5 30300 0 NA
19-3054090-G-C p.Arg186Gly missense AES 50 48046 0.00104067 24023 0 0.343726
19-3054090-G-A p.Arg186Trp missense AES 1 55022 1.81745E-5 27511 0 1.90288E-5
19-3054094-A-C p.Gly184Gly synonymous AES 75 48752 0.0015384 24376 0 0.323357
19-3054097-C-T p.Ala183Ala synonymous AES 2 56074 3.56672E-5 28037 0 6.93225E-5
19-3054098-G-C p.Ala183Gly missense AES 114 48880 0.00233224 24440 0 0.273331
19-3054098-G-A p.Ala183Val missense AES 6 54790 1.09509E-4 27395 0 3.50631E-4
19-3054099-C-A p.Ala183Ser missense AES 1 55594 1.79876E-5 27797 0 3.22144E-5
19-3054101-CAGGT-C p.Thr181fs frameshift AES 45 53640 8.38926E-4 26820 0 0.0738086
19-3054101-CAG-C p.Trp182fs frameshift AES 1 56768 1.76156E-5 28384 0 7.83331E-5
19-3054101-CAGG-C p.Thr181_Trp182delinsArg disruptive_inframe_deletion AES 1 56644 1.76541E-5 28322 0 0.00602347
19-3054101-C-CCCCCCCCCCCCCCCA p.Trp182delinsLeuGlyGlyGlyGlyGly conservative_inframe_insertion AES 1 56778 1.76125E-5 28389 0 NA
19-3054102-A-C p.Trp182Gly missense AES 5 56252 8.88857E-5 28126 0 0.00300046
19-3054102-A-G p.Trp182Arg missense AES 1 56462 1.7711E-5 28231 0 2.458E-4
19-3054103-G-GCCC p.Thr181dup disruptive_inframe_insertion AES 1 56406 1.77286E-5 28203 0 1.32679E-4
19-3054103-G-C p.Thr181Thr synonymous AES 2 56398 3.54622E-5 28199 0 2.08455E-5
19-3054104-G-A p.Thr181Ile missense AES 2 56820 3.51989E-5 28410 0 4.32152E-5
19-3054109-C-G p.Met179Ile missense AES 6 58762 1.02107E-4 29381 0 5.3339E-5
19-3054110-A-G p.Met179Thr missense AES 1 58826 1.69993E-5 29413 0 NA
19-3054139-G-A p.Pro184Pro synonymous AES 16 65254 2.45196E-4 32627 0 3.22435E-4
19-3054144-C-T p.Ala183Thr missense AES 1 65482 1.52714E-5 32741 0 3.22123E-5
19-3054177-A-G p.Leu172Leu synonymous AES 13 68518 1.89731E-4 34259 0 0.00106045
19-3054193-CTGGAAGGGGG-C c.499-11_499-2delCCCCCTTCCA splice_acceptor AES 1 68258 1.46503E-5 34129 0 NA
19-3054196-G-C c.499-4C>G splice_region AES 1938 68022 0.0284908 34011 50 0.0505765
19-3054199-G-A c.499-7C>T splice_region AES 1 68108 1.46826E-5 34054 0 1.65481E-5
19-3054200-G-C c.499-8C>G splice_region AES 1 68058 1.46933E-5 34029 0 1.03924E-5
19-3055658-T-C c.498+4A>G splice_region AES 1 82956 1.20546E-5 41478 0 4.24398E-6
19-3055662-C-T p.Glu166Glu splice_region+synonymous AES 1 82996 1.20488E-5 41498 0 4.17732E-6
19-3055701-G-A p.Asn153Asn synonymous AES 21 83108 2.52683E-4 41554 0 4.77829E-4
19-3055716-G-A p.Ser45Leu missense AES 8 83050 9.63275E-5 41525 0 2.23015E-4
19-3055729-AAC-A c.436-7_436-6delGT splice_region AES 1 82980 1.20511E-5 41490 0 8.59372E-6
19-3055731-C-T c.436-7G>A splice_region AES 1 82972 1.20523E-5 41486 0 NA
19-3056349-G-A p.Tyr132Tyr synonymous AES 2 44766 4.46768E-5 22383 0 7.10954E-6
19-3056361-G-T c.391-7C>A splice_region AES 1 45774 2.18465E-5 22887 0 7.74329E-6
19-3057672-G-A c.390+5C>T splice_region AES 18 73198 2.45908E-4 36599 0 1.16241E-4
19-3057683-A-G p.Tyr128Tyr synonymous AES 2 74780 2.67451E-5 37390 0 5.00927E-5
19-3057693-T-C p.Gln125Arg missense AES 1 74714 1.33844E-5 37357 0 NA
19-3057698-C-T p.Glu123Glu synonymous AES 1 74834 1.33629E-5 37417 0 NA
19-3057707-C-T p.Glu120Glu synonymous AES 1 74616 1.3402E-5 37308 0 NA
19-3057713-G-C p.Ala118Ala synonymous AES 1 73990 1.35153E-5 36995 0 NA
19-3057723-T-A p.Asp115Val missense AES 1 72892 1.37189E-5 36446 0 NA
19-3057731-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain AES 10 71186 1.40477E-4 35593 0 0.00100705
19-3057747-A-G c.327-7T>C splice_region AES 1 67644 1.47833E-5 33822 0 NA
19-3061150-C-G c.326+8G>C splice_region AES 1 80228 1.24645E-5 40114 0 NA
19-3061156-A-T c.326+2T>A splice_donor AES 1 80290 1.24549E-5 40145 0 NA
19-3061163-G-A p.Tyr107Tyr synonymous AES 6 80486 7.45471E-5 40243 0 1.65038E-5
19-3061171-C-T p.Ala105Thr missense AES 3 80610 3.72162E-5 40305 0 6.37267E-5
19-3061177-G-A c.-63C>T 5_prime_UTR_premature_start_codon_gain AES 2 80628 2.48053E-5 40314 0 NA
19-3061180-G-A p.Leu102Leu synonymous AES 92 80600 0.00114144 40300 0 0.003125
19-3061181-C-T p.Gln101Gln synonymous AES 7 80614 8.68336E-5 40307 0 1.65006E-5
19-3061202-G-A p.Asp94Asp synonymous AES 2 80734 2.47727E-5 40367 0 1.65057E-5
19-3061214-C-T p.Ser90Ser synonymous AES 1 80630 1.24023E-5 40315 0 3.18735E-5
19-3061244-G-A p.His80His synonymous AES 4 80148 4.99077E-5 40074 0 3.30633E-5
19-3061262-G-A c.229-7C>T splice_region AES 1 79204 1.26256E-5 39602 0 6.37796E-5
19-3061263-G-A c.229-8C>T splice_region AES 3 79140 3.79075E-5 39570 0 NA
19-3061271-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain AES 2 78472 2.54868E-5 39236 0 NA
19-3061306-C-A c.-192G>T 5_prime_UTR_premature_start_codon_gain AES 4 75096 5.32652E-5 37548 0 6.94609E-5
19-3061315-C-A c.-201G>T 5_prime_UTR_premature_start_codon_gain AES 3 73216 4.09746E-5 36608 0 NA
19-3061316-G-A c.-202C>T 5_prime_UTR_premature_start_codon_gain AES 8 73166 1.0934E-4 36583 0 9.57916E-5
19-3061319-T-A c.-205A>T 5_prime_UTR_premature_start_codon_gain AES 27 72294 3.73475E-4 36147 0 3.19611E-5
19-3061344-G-A c.-230C>T 5_prime_UTR_premature_start_codon_gain AES 14361 54594 0.263051 27297 641 0.334885
19-3061369-C-A c.-255G>T 5_prime_UTR_premature_start_codon_gain AES 1 52212 1.91527E-5 26106 0 NA
19-3062164-C-T c.27+8G>A splice_region AES 13 26702 4.86855E-4 13351 0 0.25
19-3062166-G-A c.27+6C>T splice_region AES 1 26772 3.73525E-5 13386 0 NA
19-3062178-C-T p.Arg7Arg synonymous AES 2 27582 7.25111E-5 13791 0 NA
19-3062693-C-T c.228+5G>A splice_region AES 1597 74672 0.0213869 37336 15 0.0974325
19-3062694-C-G c.228+4G>C splice_region AES 3 74842 4.00844E-5 37421 0 NA
19-3062708-GC-G p.Ala73fs frameshift AES 2 75436 2.65125E-5 37718 0 NA
19-3062710-C-T p.Pro72Pro synonymous AES 1 75662 1.32167E-5 37831 0 6.44496E-4
19-3062711-G-A p.Pro72Leu missense AES 1 75660 1.3217E-5 37830 0 8.02865E-6
19-3062726-C-T p.Trp67* stop_gained AES 1 76698 1.30381E-5 38349 0 2.25008E-4
19-3062731-G-C p.Asp65Glu missense AES 2 76836 2.60295E-5 38418 0 1.55063E-4
19-3062733-C-G p.Asp65His missense AES 1 76894 1.30049E-5 38447 0 NA
19-3062733-CAAAG-C p.Phe63fs frameshift AES 5 76894 6.50246E-5 38447 2 1.51883E-4
19-3062743-G-A p.Ser61Ser synonymous AES 1 77068 1.29756E-5 38534 0 NA
19-3062747-C-A p.Gly60Val missense AES 1 77116 1.29675E-5 38558 0 NA
19-3062756-C-T p.Arg57Gln missense AES 1 77250 1.2945E-5 38625 0 6.40246E-5
19-3062756-C-G p.Arg57Pro missense AES 1 77250 1.2945E-5 38625 0 NA
19-3062759-G-C p.Thr56Arg missense AES 1 77234 1.29477E-5 38617 0 NA
19-3062761-C-T p.Ser55Ser synonymous AES 4 77262 5.17719E-5 38631 0 6.25E-4
19-3062765-G-A p.Ala54Val missense AES 1 77278 1.29403E-5 38639 0 6.12445E-5
19-3062766-C-T p.Ala54Thr missense AES 1 77278 1.29403E-5 38639 0 NA
19-3062777-G-T p.Ala50Glu missense AES 1 77404 1.29192E-5 38702 0 NA
19-3062784-CACGACCTGGACGCGTG-C p.Thr43fs frameshift AES 2 77396 2.58411E-5 38698 0 NA
19-3062786-C-G p.Arg47Pro missense AES 12 77388 1.55063E-4 38694 0 1.05455E-4
19-3062788-ACCTGGAC-A p.Arg44fs frameshift AES 1 77362 1.29262E-5 38681 0 6.5566E-6
19-3062790-CTGGACGCGT-C p.Thr43_Pro45del conservative_inframe_deletion AES 1 77402 1.29196E-5 38701 0 3.19264E-5
19-3062790-C-A p.Gly46Cys missense AES 1 77402 1.29196E-5 38701 0 6.55351E-6
19-3062803-A-G p.Arg41Arg synonymous AES 1 77396 1.29206E-5 38698 0 3.19285E-5
19-3062814-C-T p.Glu38Lys missense AES 1 77456 1.29106E-5 38728 0 1.30506E-5
19-3062816-G-T p.Thr37Lys missense AES 1 77458 1.29102E-5 38729 0 NA
19-3062820-C-G p.Val36Leu missense AES 1 77480 1.29066E-5 38740 0 NA
19-3062827-T-C p.Arg33Arg synonymous AES 1 77480 1.29066E-5 38740 0 2.04228E-4
19-3062830-G-A p.Ala32Ala synonymous AES 3 77502 3.87087E-5 38751 0 9.57304E-5
19-3062838-G-A p.Arg30Cys missense AES 3 77496 3.87117E-5 38748 0 NA
19-3062842-G-A p.Asn28Asn synonymous AES 4 77506 5.16089E-5 38753 0 5.02765E-5
19-3062845-C-T p.Lys27Lys synonymous AES 2 77526 2.57978E-5 38763 0 NA
19-3062847-T-C p.Lys27Glu missense AES 1 77508 1.29019E-5 38754 0 NA
19-3062857-T-C p.Leu23Leu synonymous AES 28042 75118 0.373306 37559 5150 0.421612
19-3062869-C-G p.Gln19His missense AES 1 77418 1.29169E-5 38709 0 NA
19-3062870-TG-T p.Gln19fs frameshift AES 9 77370 1.16324E-4 38685 0 4.98008E-5
19-3062873-A-C p.Leu18Arg missense AES 14 77340 1.81019E-4 38670 0 0.00125
19-3062884-G-A p.Thr14Thr synonymous AES 2 77134 2.59289E-5 38567 0 5.15358E-5
19-3062892-C-T p.Gly12Ser missense AES 2 76796 2.6043E-5 38398 0 1.27787E-4
19-3062898-C-G p.Glu10Gln missense AES 9 76620 1.17463E-4 38310 0 5.03018E-4
19-3062903-G-A p.Pro8Leu missense AES 1 76184 1.31261E-5 38092 0 NA
19-3062904-GGAA-G p.Phe7del conservative_inframe_deletion AES 2 76066 2.6293E-5 38033 0 1.98918E-5
19-3062950-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain AES 206 67594 0.00304761 33797 3 0.00958711