Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-34824705-G-C c.-49+1G>C splice_donor AAR2 2 2630 7.60456E-4 1315 0 3.1841E-5
20-34827799-C-T p.Ala3Ala synonymous AAR2 1 83208 1.20181E-5 41604 0 1.77866E-5
20-34827800-G-A p.Val4Met missense AAR2 1 83214 1.20172E-5 41607 0 4.10105E-6
20-34827804-A-G p.Gln5Arg missense AAR2 3 83230 3.60447E-5 41615 0 2.63964E-5
20-34827828-G-A p.Arg13His missense AAR2 4 83298 4.80204E-5 41649 0 3.18512E-5
20-34827830-C-G p.Leu14Val missense AAR2 1 83314 1.20028E-5 41657 0 NA
20-34827838-T-C p.Phe16Phe synonymous AAR2 2 83326 2.40021E-5 41663 0 3.98651E-6
20-34827841-A-AG p.Ala19fs frameshift AAR2 1 83318 1.20022E-5 41659 0 NA
20-34827848-A-G p.Thr20Ala missense AAR2 1 83328 1.20008E-5 41664 0 1.19446E-5
20-34827854-G-A p.Val22Ile missense AAR2 2 83330 2.4001E-5 41665 0 1.74358E-4
20-34827859-C-T p.Ile23Ile synonymous AAR2 1 83330 1.20005E-5 41665 0 NA
20-34827865-C-T p.Asn25Asn synonymous AAR2 1 83344 1.19985E-5 41672 0 3.97836E-6
20-34827866-A-G p.Met26Val missense AAR2 1 83348 1.19979E-5 41674 0 NA
20-34827873-A-G p.Lys28Arg missense AAR2 3 83350 3.59928E-5 41675 0 2.47774E-5
20-34827876-G-A p.Gly29Glu missense AAR2 1 83344 1.19985E-5 41672 0 3.18471E-5
20-34827897-A-G p.Tyr36Cys missense AAR2 1 83344 1.19985E-5 41672 0 8.24865E-6
20-34827901-C-G p.Asn37Lys missense AAR2 1 83332 1.20002E-5 41666 0 NA
20-34827910-G-C p.Glu40Asp missense AAR2 1 83324 1.20013E-5 41662 0 7.95368E-6
20-34827913-C-T p.Val41Val synonymous AAR2 4 83324 4.80054E-5 41662 0 3.18613E-5
20-34827914-G-A p.Gly42Arg missense AAR2 3 83320 3.60058E-5 41660 0 3.18634E-5
20-34827921-A-G p.Lys44Arg missense AAR2 1 83312 1.20031E-5 41656 0 3.9769E-6
20-34827925-C-T p.Phe45Phe synonymous AAR2 1 83306 1.20039E-5 41653 0 NA
20-34827926-C-T p.Arg46Trp missense AAR2 2 83308 2.40073E-5 41654 0 2.38631E-5
20-34827927-G-A p.Arg46Gln missense AAR2 2 83306 2.40079E-5 41653 0 5.03525E-4
20-34827929-G-A p.Gly47Ser missense AAR2 1 83300 1.20048E-5 41650 0 NA
20-34827931-C-T p.Gly47Gly synonymous AAR2 1 83290 1.20062E-5 41645 0 2.473E-5
20-34827932-G-T p.Val48Leu missense AAR2 129 83282 0.00154895 41641 0 0.00474522
20-34827932-G-A p.Val48Met missense AAR2 6 83282 7.20444E-5 41641 0 3.18471E-5
20-34827947-C-G p.Pro53Ala missense AAR2 1 83262 1.20103E-5 41631 0 NA
20-34827958-C-A p.His56Gln missense AAR2 1 83240 1.20135E-5 41620 0 NA
20-34827961-C-T p.Phe57Phe synonymous AAR2 2 83218 2.40333E-5 41609 0 8.24198E-6
20-34827964-C-T p.Leu58Leu synonymous AAR2 1 83222 1.20161E-5 41611 0 NA
20-34827967-C-T p.His59His synonymous AAR2 24 83218 2.88399E-4 41609 0 0.00100705
20-34827968-T-C p.Tyr60His missense AAR2 1 83218 1.20166E-5 41609 0 8.24239E-6
20-34827969-A-G p.Tyr60Cys missense AAR2 1 83218 1.20166E-5 41609 0 1.64845E-5
20-34827980-G-A p.Asp64Asn missense AAR2 1 83202 1.20189E-5 41601 0 8.24294E-6
20-34827994-G-A p.Pro68Pro synonymous AAR2 3 83176 3.60681E-5 41588 0 1.5916E-5
20-34827997-G-A p.Lys69Lys synonymous AAR2 14 83154 1.68362E-4 41577 0 1.40144E-4
20-34828001-G-C p.Val71Leu missense AAR2 3 83124 3.60907E-5 41562 0 8.2447E-6
20-34828011-G-T p.Arg74Leu missense AAR2 1 83108 1.20325E-5 41554 0 8.24606E-6
20-34828011-G-A p.Arg74His missense AAR2 3 83108 3.60976E-5 41554 0 1.98994E-5
20-34828015-G-T p.Met75Ile missense AAR2 2 83082 2.40726E-5 41541 0 3.97966E-6
20-34828024-C-T p.Phe78Phe synonymous AAR2 1 83078 1.20369E-5 41539 0 8.24674E-6
20-34828040-C-T p.Arg84Trp missense AAR2 62 83008 7.46916E-4 41504 0 5.7722E-4
20-34828041-G-A p.Arg84Gln missense AAR2 10 83014 1.20462E-4 41507 0 6.37146E-5
20-34828042-G-C p.Arg84Arg synonymous AAR2 1 83014 1.20462E-5 41507 0 NA
20-34828047-T-C p.Leu86Pro missense AAR2 1 82992 1.20494E-5 41496 0 NA
20-34828055-C-T p.Leu89Leu synonymous AAR2 1 82952 1.20552E-5 41476 0 6.37267E-5
20-34828057-G-A p.Leu89Leu synonymous AAR2 1 82946 1.2056E-5 41473 0 3.18593E-5
20-34828058-C-T p.Arg90Cys missense AAR2 4 82936 4.823E-5 41468 0 5.03525E-4
20-34828059-G-C p.Arg90Pro missense AAR2 3 82934 3.61733E-5 41467 0 9.55657E-5
20-34828059-G-A p.Arg90His missense AAR2 1 82934 1.20578E-5 41467 0 0.00100705
20-34828064-A-G p.Ser92Gly missense AAR2 1 82968 1.20528E-5 41484 0 NA
20-34828094-C-G p.Pro102Ala missense AAR2 1 83016 1.20459E-5 41508 0 1.99045E-5
20-34828097-GC-G p.Pro104fs frameshift AAR2 1 83038 1.20427E-5 41519 0 2.47464E-5
20-34828110-A-T p.Glu107Val missense AAR2 4 83046 4.81661E-5 41523 0 1.03496E-4
20-34828131-A-G p.Asn114Ser missense AAR2 1 83076 1.20372E-5 41538 0 NA
20-34828133-C-G p.Leu115Val missense AAR2 9 83080 1.08329E-4 41540 0 1.39305E-4
20-34828141-G-GC p.Leu118fs frameshift AAR2 57 83082 6.86069E-4 41541 0 7.32577E-4
20-34828153-C-T p.Phe121Phe synonymous AAR2 1 83114 1.20317E-5 41557 0 3.9789E-6
20-34828156-G-A p.Leu122Leu synonymous AAR2 1 83118 1.20311E-5 41559 0 6.37064E-5
20-34828160-C-A p.Pro124Thr missense AAR2 89 83126 0.00107066 41563 0 0.00277176
20-34828174-C-T p.Ala128Ala synonymous AAR2 1 83142 1.20276E-5 41571 0 NA
20-34828207-C-T p.Phe139Phe synonymous AAR2 3 83186 3.60638E-5 41593 0 1.98904E-5
20-34828223-G-A p.Val145Met missense AAR2 9 83240 1.08121E-4 41620 0 2.10803E-4
20-34828224-T-C p.Val145Ala missense AAR2 3 83238 3.60412E-5 41619 0 6.37389E-5
20-34828224-T-G p.Val145Gly missense AAR2 1 83238 1.20137E-5 41619 0 1.64794E-5
20-34828235-C-A p.Gln149Lys missense AAR2 1 83286 1.20068E-5 41643 0 NA
20-34828235-C-T p.Gln149* stop_gained AAR2 1 83286 1.20068E-5 41643 0 NA
20-34828241-G-A p.Glu151Lys missense AAR2 4 83316 4.801E-5 41658 0 3.18512E-5
20-34828248-G-A p.Arg153Gln missense AAR2 1 83314 1.20028E-5 41657 0 8.23778E-6
20-34828250-C-G p.Gln154Glu missense AAR2 21 83328 2.52016E-4 41664 0 0.0020141
20-34828251-A-G p.Gln154Arg missense AAR2 1 83334 1.19999E-5 41667 0 3.18471E-5
20-34828252-G-C p.Gln154His missense AAR2 9 83336 1.07997E-4 41668 0 1.56513E-4
20-34828268-G-A p.Asp160Asn missense AAR2 2 83336 2.39992E-5 41668 0 3.18471E-5
20-34828270-T-C p.Asp160Asp synonymous AAR2 1 83334 1.19999E-5 41667 0 1.64753E-5
20-34828298-A-G p.Thr170Ala missense AAR2 1 83318 1.20022E-5 41659 0 NA
20-34828303-G-A p.Lys171Lys synonymous AAR2 59 83304 7.08249E-4 41652 0 0.00104189
20-34828307-C-T p.Arg173Cys missense AAR2 1 83286 1.20068E-5 41643 0 3.18512E-5
20-34828309-C-T p.Arg173Arg synonymous AAR2 3 83266 3.60291E-5 41633 0 1.59067E-5
20-34828310-G-A p.Val174Met missense AAR2 4 83276 4.8033E-5 41638 0 0.0020141
20-34828311-T-G p.Val174Gly missense AAR2 1 83272 1.20088E-5 41636 0 NA
20-34828316-C-G p.Gln176Glu missense AAR2 1 83240 1.20135E-5 41620 0 NA
20-34828328-C-T p.Arg180Cys missense AAR2 11 83176 1.3225E-4 41588 0 0.00125
20-34828328-C-G p.Arg180Gly missense AAR2 1 83176 1.20227E-5 41588 0 NA
20-34828329-G-A p.Arg180His missense AAR2 1 83116 1.20314E-5 41558 0 1.19314E-5
20-34828338-T-C p.Ile183Thr missense AAR2 2 83082 2.40726E-5 41541 0 3.18573E-5
20-34828344-G-A p.Cys185Tyr missense AAR2 5 83024 6.02235E-5 41512 0 8.25328E-6
20-34828356-AAG-A p.Glu190fs frameshift AAR2 1 82884 1.20651E-5 41442 0 NA
20-34828357-A-T p.Gln189His missense AAR2 1 82882 1.20653E-5 41441 0 NA
20-34828360-G-T p.Glu190Asp missense AAR2 1 82858 1.20688E-5 41429 0 NA
20-34828370-C-T p.Arg194Trp missense AAR2 3 82726 3.62643E-5 41363 0 1.27421E-4
20-34828371-G-A p.Arg194Gln missense AAR2 37 82706 4.47368E-4 41353 0 0.00125
20-34828371-G-T p.Arg194Leu missense AAR2 1 82706 1.2091E-5 41353 0 NA
20-34828373-C-T p.Leu195Leu synonymous AAR2 1 82682 1.20945E-5 41341 0 NA
20-34828396-C-T p.Ala202Ala synonymous AAR2 317 82494 0.0038427 41247 5 0.00876075
20-34828405-G-A p.Glu205Glu synonymous AAR2 2 82462 2.42536E-5 41231 0 NA
20-34828409-C-T p.Arg207Cys missense AAR2 2 82430 2.4263E-5 41215 0 3.18492E-5
20-34828428-C-T p.Thr213Met missense AAR2 2 82274 2.4309E-5 41137 0 1.19593E-5
20-34828429-G-A p.Thr213Thr synonymous AAR2 9 82236 1.09441E-4 41118 0 1.27413E-4
20-34828452-C-T p.Thr221Met missense AAR2 1 81958 1.22014E-5 40979 0 3.9938E-6
20-34828456-A-G p.Pro222Pro synonymous AAR2 4 81870 4.88579E-5 40935 0 3.18512E-5
20-34828459-T-C p.Ala223Ala synonymous AAR2 5441 81534 0.0667329 40767 777 0.12752
20-34828462-G-T p.Glu224Asp missense AAR2 1 81762 1.22306E-5 40881 0 NA
20-34828464-T-G p.Ile225Arg missense AAR2 1 81726 1.2236E-5 40863 0 3.18552E-5
20-34828471-G-A p.Lys227Lys synonymous AAR2 1 81586 1.2257E-5 40793 0 NA
20-34828486-G-A p.Leu232Leu synonymous AAR2 1 81234 1.23101E-5 40617 0 3.40223E-5
20-34828492-T-C p.Tyr234Tyr synonymous AAR2 4 81112 4.93145E-5 40556 0 1.27421E-4
20-34828493-G-A p.Ala235Thr missense AAR2 4 81094 4.93255E-5 40547 0 9.55475E-5
20-34828505-G-A p.Val239Met missense AAR2 3 80890 3.70874E-5 40445 0 3.18573E-5
20-34828511-A-T p.Asn241Tyr missense AAR2 2 80808 2.475E-5 40404 0 4.14224E-4
20-34828548-G-C c.757+1G>C splice_donor AAR2 1 79776 1.25351E-5 39888 0 NA
20-34828553-A-C c.757+6A>C splice_region AAR2 1 79534 1.25732E-5 39767 0 NA
20-34832617-A-G c.758-2A>G splice_acceptor AAR2 2 83254 2.40229E-5 41627 0 NA
20-34832627-C-T p.Gln256* stop_gained AAR2 1 83308 1.20036E-5 41654 0 4.77384E-5
20-34832638-T-C p.Phe259Phe synonymous AAR2 2 83346 2.39964E-5 41673 0 6.58946E-5
20-34832639-G-T p.Val260Leu missense AAR2 1 83348 1.19979E-5 41674 0 3.977E-6
20-34832641-G-T p.Val260Val synonymous AAR2 1 83350 1.19976E-5 41675 0 NA
20-34832648-C-T p.Leu263Leu synonymous AAR2 1 83364 1.19956E-5 41682 0 NA
20-34832654-G-T p.Gly265Trp missense AAR2 1 83368 1.1995E-5 41684 0 NA
20-34832665-C-T p.Tyr268Tyr synonymous AAR2 7 83380 8.3953E-5 41690 0 9.55779E-5
20-34832666-G-A p.Glu269Lys missense AAR2 15 83386 1.79886E-4 41693 1 4.53003E-4
20-34832681-T-C p.Trp274Arg missense AAR2 1 83392 1.19916E-5 41696 0 NA
20-34832687-C-T p.Arg276Trp missense AAR2 1 83392 1.19916E-5 41696 0 7.95279E-6
20-34832688-G-A p.Arg276Gln missense AAR2 5 83388 5.99607E-5 41694 0 1.1531E-4
20-34832689-G-T p.Arg276Arg synonymous AAR2 1 83386 1.19924E-5 41693 0 7.95273E-6
20-34832700-TCCTGTG-T p.Leu281_Cys282del disruptive_inframe_deletion AAR2 1 83382 1.1993E-5 41691 0 NA
20-34832708-C-T p.Arg283Trp missense AAR2 3 83380 3.59799E-5 41690 0 3.18532E-5
20-34832709-G-A p.Arg283Gln missense AAR2 70 83372 8.3961E-4 41686 0 0.0012105
20-34832724-T-C p.Met288Thr missense AAR2 3 83392 3.59747E-5 41696 0 1.59055E-5
20-34832734-C-G p.His291Gln missense AAR2 1 83382 1.1993E-5 41691 0 NA
20-34832743-C-T p.Leu294Leu synonymous AAR2 1 83382 1.1993E-5 41691 0 NA
20-34832745-A-G p.Tyr295Cys missense AAR2 13 83378 1.55916E-4 41689 0 8.74835E-5
20-34832746-C-T p.Tyr295Tyr synonymous AAR2 35 83382 4.19755E-4 41691 1 0.00151057
20-34832746-C-G p.Tyr295* stop_gained AAR2 1 83384 1.19927E-5 41692 0 2.47113E-5
20-34832755-C-G p.Leu298Leu synonymous AAR2 2 83372 2.39889E-5 41686 0 9.06125E-5
20-34832755-C-A p.Leu298Leu synonymous AAR2 23 83372 2.75872E-4 41686 0 0.00157336
20-34832765-CT-C p.Leu302fs frameshift AAR2 1 83346 1.19982E-5 41673 0 NA
20-34832791-C-T p.Pro310Pro synonymous AAR2 16 83232 1.92234E-4 41616 0 0.00125
20-34832797-C-T p.Asp312Asp synonymous AAR2 1 83188 1.2021E-5 41594 0 NA
20-34832803-C-T p.Phe314Phe synonymous AAR2 3 83124 3.60907E-5 41562 0 6.37064E-5
20-34832804-G-A p.Val315Ile missense AAR2 4 83100 4.81348E-5 41550 0 0.0020141
20-34832805-T-C p.Val315Ala missense AAR2 1 83090 1.20351E-5 41545 0 1.65093E-5
20-34832808-A-G p.Asp316Gly missense AAR2 1 83052 1.20406E-5 41526 0 NA
20-34832809-C-T p.Asp316Asp synonymous AAR2 1 83030 1.20438E-5 41515 0 NA
20-34832818-C-T p.Ser319Ser synonymous AAR2 4 82876 4.82649E-5 41438 0 1.59267E-5
20-34832826-A-G p.Asn322Ser missense AAR2 1 82666 1.20969E-5 41333 0 3.98368E-6
20-34832855-A-G c.987+7A>G splice_region AAR2 11 80890 1.35987E-4 40445 0 7.00414E-4
20-34843509-T-C p.Ser333Pro missense AAR2 1 82818 1.20747E-5 41409 0 NA
20-34843513-C-T p.Ser334Phe missense AAR2 6 82920 7.23589E-5 41460 0 NA
20-34843515-G-C p.Ala335Pro missense AAR2 1 82946 1.2056E-5 41473 0 3.9795E-6
20-34843523-C-CA p.Ile338fs frameshift AAR2 1 83114 1.20317E-5 41557 0 NA
20-34843528-C-CCGTGGAT p.Ala342fs frameshift AAR2 3 83162 3.60742E-5 41581 0 NA
20-34843565-C-G p.Phe351Leu missense AAR2 1 83378 1.19936E-5 41689 0 NA
20-34843580-C-T p.Thr356Thr synonymous AAR2 5 83392 5.99578E-5 41696 0 3.18573E-5
20-34843590-C-T p.Arg360Trp missense AAR2 6 83382 7.1958E-5 41691 0 0.00100705
20-34843591-G-A p.Arg360Gln missense AAR2 2 83386 2.39848E-5 41693 0 3.18552E-5
20-34843594-G-C p.Trp361Ser missense AAR2 1 83390 1.19918E-5 41695 0 8.23642E-6
20-34843602-GC-G p.Ala364fs frameshift AAR2 4 83384 4.79708E-5 41692 0 8.23642E-6
20-34843605-G-A p.Ala365Thr missense AAR2 519 83372 0.00622511 41686 6 0.019375
20-34843605-G-T p.Ala365Ser missense AAR2 2 83378 2.39871E-5 41689 0 8.23655E-6
20-34843607-G-A p.Ala365Ala synonymous AAR2 2 83370 2.39894E-5 41685 0 6.25E-4
20-34843607-G-T p.Ala365Ala synonymous AAR2 1 83370 1.19947E-5 41685 0 4.94201E-5
20-34843607-GG-TT p.AlaGlu365* stop_gained AAR2 1 83370 1.19947E-5 41685 0 NA
20-34843621-G-A p.Cys370Tyr missense AAR2 1 83366 1.19953E-5 41683 0 NA
20-34843624-C-T p.Ala371Val missense AAR2 16 83352 1.91957E-4 41676 0 0.00125
20-34843625-C-T p.Ala371Ala synonymous AAR2 2 83354 2.3994E-5 41677 0 NA
20-34843628-G-A p.Pro372Pro synonymous AAR2 2 83346 2.39964E-5 41673 0 4.37616E-5
20-34843647-G-A p.Glu379Lys missense AAR2 14 83304 1.68059E-4 41652 0 1.40125E-4
20-34843652-CA-C p.Ile381fs frameshift AAR2 1 83282 1.20074E-5 41641 0 NA
20-34843656-G-A p.Glu382Lys missense AAR2 4 83270 4.80365E-5 41635 0 6.25E-4
20-34843666-A-C p.Ter385Serext*? stop_lost AAR2 16 83256 1.92178E-4 41628 0 1.31486E-4
20-34858453-A-T c.988-2A>T splice_acceptor AAR2 2 6014 3.32557E-4 3007 0 3.95883E-4
20-34858458-CAG-C p.Leu333fs frameshift AAR2 5 6156 8.12216E-4 3078 0 0.00210526
20-34858467-G-A p.Ala334Thr missense AAR2 4 6786 5.89449E-4 3393 0 0.00112735
20-34858489-G-A p.Cys341Tyr missense AAR2 1 8036 1.2444E-4 4018 0 7.39844E-4
20-34858510-G-A p.Arg348His missense AAR2 1 8390 1.1919E-4 4195 0 6.34669E-5
20-34858541-T-G p.Asp358Glu missense AAR2 1 9016 1.10914E-4 4508 0 9.38262E-5
20-34858614-A-AAC p.Lys383fs frameshift AAR2 4 9476 4.22119E-4 4738 0 4.60047E-4
20-34858616-A-C p.Lys383Asn missense AAR2 1 9464 1.05664E-4 4732 0 3.19795E-5
20-34858631-T-C p.Asp388Asp synonymous AAR2 3 9458 3.17192E-4 4729 0 0.00113057
20-34858640-T-C p.Phe391Phe synonymous AAR2 1 9438 1.05955E-4 4719 0 1.88822E-4