Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-264720-C-A n.360-3C>A splice_region ACP1 1 23074 4.33388E-5 11537 0 NA
2-264870-C-T c.-95C>T 5_prime_UTR_premature_start_codon_gain ACP1 2 77536 2.57945E-5 38768 0 NA
2-264895-G-C c.-70G>C 5_prime_UTR_premature_start_codon_gain ACP1 32181 32212 0.999038 16106 16075 1.0
2-264913-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain ACP1 6 79906 7.50882E-5 39953 0 6.36943E-5
2-264937-G-A c.-28G>A 5_prime_UTR_premature_start_codon_gain ACP1 1 80806 1.23753E-5 40403 0 NA
2-264943-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain ACP1 2 81046 2.46773E-5 40523 0 3.18573E-5
2-264951-C-T c.-14C>T 5_prime_UTR_premature_start_codon_gain ACP1 1 81316 1.22977E-5 40658 0 8.08407E-6
2-264966-T-C p.Met1? start_lost ACP1 1 81654 1.22468E-5 40827 0 8.05484E-6
2-264968-G-A p.Ala2Thr missense ACP1 1 81646 1.2248E-5 40823 0 NA
2-264970-G-C p.Ala2Ala synonymous ACP1 1 81652 1.22471E-5 40826 0 NA
2-264975-A-G p.Gln4Arg missense ACP1 10 81662 1.22456E-4 40831 0 1.27453E-4
2-264976-G-A p.Gln4Gln synonymous ACP1 5 81676 6.12175E-5 40838 0 8.29917E-6
2-264978-C-T p.Ala5Val missense ACP1 1 81618 1.22522E-5 40809 0 1.6597E-5
2-264980-A-G p.Thr6Ala missense ACP1 4 81648 4.89908E-5 40824 0 3.18552E-5
2-264981-C-T p.Thr6Ile missense ACP1 1 81636 1.22495E-5 40818 0 3.01357E-4
2-264981-C-G p.Thr6Ser missense ACP1 1 81636 1.22495E-5 40818 0 4.0181E-6
2-264982-C-G p.Thr6Thr synonymous ACP1 61 81668 7.46927E-4 40834 1 0.00146562
2-264982-C-T p.Thr6Thr synonymous ACP1 1 81670 1.22444E-5 40835 0 8.29669E-6
2-264985-G-T p.Lys7Asn missense ACP1 166 81552 0.00203551 40776 0 0.00506466
2-264986-T-C p.Ser8Pro missense ACP1 2 81490 2.45429E-5 40745 0 NA
2-264988-C-T p.Ser8Ser synonymous ACP1 3 81482 3.68179E-5 40741 0 0.0020141
2-264989-G-A p.Val9Met missense ACP1 2 81440 2.4558E-5 40720 0 NA
2-264992-C-T p.Leu10Leu synonymous ACP1 5 81358 6.14568E-5 40679 0 4.01616E-6
2-265000-G-A p.Val12Val synonymous ACP1 1 81264 1.23056E-5 40632 0 NA
2-265010-A-G c.43+3A>G splice_region ACP1 20 81130 2.46518E-4 40565 0 4.78377E-4
2-265011-A-ACATTTGTCGATCACCCATTGCAGAAGCAGTTTTCAGGAAACTT c.43+4_43+5insCATTTGTCGATCACCCATTGCAGAAGCAGTTTTCAGGAAACTT splice_region ACP1 1 81138 1.23247E-5 40569 0 NA
2-265015-G-A c.43+8G>A splice_region ACP1 341 81084 0.00420552 40542 2 0.00700682
2-269329-C-T p.Tyr24Tyr synonymous ACP1 1 51314 1.94879E-5 25657 0 6.37024E-5
2-269332-T-A p.Ser25Arg missense ACP1 1 51320 1.94856E-5 25660 0 NA
2-269341-G-T p.Gly28Gly synonymous ACP1 29 51314 5.65148E-4 25657 0 3.83846E-4
2-269341-G-A p.Gly28Gly synonymous ACP1 3 51314 5.84636E-5 25657 0 2.05632E-5
2-269342-A-G p.Lys29Glu missense ACP1 28 51314 5.4566E-4 25657 0 9.55718E-4
2-269344-A-G p.Lys29Lys synonymous ACP1 4 51320 7.79423E-5 25660 0 1.36704E-5
2-269352-G-A c.90+5G>A splice_region ACP1 15829 51086 0.30985 25543 2564 0.328869
2-271870-C-G p.Asn16Lys missense ACP1 1 83280 1.20077E-5 41640 0 3.1953E-5
2-271877-C-T p.Arg19* stop_gained ACP1 2 83304 2.40085E-5 41652 0 5.03525E-4
2-271878-G-A p.Arg19Gln missense ACP1 2 83306 2.40079E-5 41653 0 6.39264E-5
2-271882-A-G p.His36Arg missense ACP1 2 83328 2.40015E-5 41664 0 3.97671E-6
2-271919-G-A p.Asp33Asn missense ACP1 7 83354 8.39792E-5 41677 0 6.76009E-5
2-271931-T-C p.Ser37Pro missense ACP1 2 83366 2.39906E-5 41683 0 3.97655E-6
2-271937-A-T p.Asn39Tyr missense+splice_region ACP1 2 83352 2.39946E-5 41676 0 8.23913E-6
2-271939-TGTAAGTACCATTCATTATCTTAAAGAGGCCAACCTGAACTCCTCTGGGCAGGAAATTGCAAAAAAAAAAAAAAAATTCCATGTTTCTTCCCCTGCAG-T c.117+1_118-1delGTAAGTACCATTCATTATCTTAAAGAGGCCAACCTGAACTCCTCTGGGCAGGAAATTGCAAAAAAAAAAAAAAAATTCCATGTTTCTTCCCCTGCAG splice_acceptor ACP1 13 83352 1.55965E-4 41676 6 NA
2-271939-T-G p.Asn39Lys missense+splice_region ACP1 1 83354 1.1997E-5 41677 0 NA
2-272031-C-T c.118-6C>T splice_region ACP1 3 83358 3.59893E-5 41679 0 8.24701E-6
2-272034-C-A c.118-3C>A splice_region ACP1 1 83354 1.1997E-5 41677 0 NA
2-272051-C-T p.Ser44Ser synonymous ACP1 3562 83210 0.0428074 41605 99 0.0463396
2-272052-G-A p.Ala45Thr missense ACP1 1 83354 1.1997E-5 41677 0 8.23818E-6
2-272053-C-T p.Ala45Val missense ACP1 2 83356 2.39935E-5 41678 0 1.59123E-5
2-272058-A-G p.Thr47Ala missense ACP1 1 83370 1.19947E-5 41685 0 1.19326E-5
2-272063-CG-C p.Tyr50fs frameshift ACP1 1 83390 1.19918E-5 41695 0 NA
2-272063-C-T p.Ser48Ser splice_region+synonymous ACP1 1 83390 1.19918E-5 41695 0 6.37755E-5
2-272065-G-A p.Gly49Asp missense+splice_region ACP1 4 83392 4.79662E-5 41696 0 3.18817E-5
2-272066-G-A c.146+1G>A splice_donor ACP1 2 83394 2.39825E-5 41697 0 3.977E-6
2-272077-G-A p.Gly53Glu missense ACP1 1 83398 1.19907E-5 41699 0 2.47101E-5
2-272078-G-A p.Gly53Gly synonymous ACP1 88 83394 0.00105523 41697 2 0.00309193
2-272101-A-T p.Gln61Leu missense ACP1 1 83402 1.19901E-5 41701 0 3.97662E-6
2-272104-G-A p.Ser62Asn missense ACP1 3 83398 3.59721E-5 41699 0 NA
2-272108-C-A p.Cys63* stop_gained ACP1 1 83404 1.19898E-5 41702 0 3.97649E-6
2-272121-G-A p.Gly68Ser missense ACP1 1 83400 1.19904E-5 41700 0 3.18593E-5
2-272124-A-G p.Ile69Val missense ACP1 1 83394 1.19913E-5 41697 0 2.38595E-5
2-272127-C-T p.Pro70Ser missense ACP1 1 83402 1.19901E-5 41701 0 8.23723E-6
2-272134-G-C p.Ser72Thr missense ACP1 4 83404 4.79593E-5 41702 0 2.47137E-5
2-272138-C-T p.His73His synonymous ACP1 2 83404 2.39797E-5 41702 0 7.95336E-6
2-272139-G-A p.Val74Ile missense ACP1 1 83406 1.19895E-5 41703 0 1.64766E-5
2-272145-C-T p.Arg76Trp missense ACP1 15 83408 1.79839E-4 41704 0 1.551E-4
2-272146-G-A p.Arg76Gln missense ACP1 7 83406 8.39268E-5 41703 0 1.07109E-4
2-272155-C-T p.Pro79Leu missense ACP1 23 83402 2.75773E-4 41701 0 3.70908E-4
2-272160-T-C p.Leu81Leu synonymous ACP1 1 83398 1.19907E-5 41699 0 NA
2-272163-G-T p.Asp82Tyr missense ACP1 1 83398 1.19907E-5 41699 0 8.24158E-6
2-272165-C-T p.Asp82Asp synonymous ACP1 1 83402 1.19901E-5 41701 0 NA
2-272178-G-T p.Val87Phe missense ACP1 1 83392 1.19916E-5 41696 0 NA
2-272190-A-G c.118-2A>G splice_acceptor ACP1 2 83396 2.3982E-5 41698 0 3.18634E-5
2-272198-A-G p.Ile42Val missense ACP1 1 83408 1.19893E-5 41704 0 8.25028E-6
2-272199-T-C p.Ile42Thr missense ACP1 2 83408 2.39785E-5 41704 0 3.18654E-5
2-272203-C-T p.Thr53Ile missense ACP1 23906 83192 0.287359 41596 3521 0.32375
2-272205-G-A p.Ser44Asn missense ACP1 2 83402 2.39802E-5 41701 0 3.18471E-5
2-272206-C-T p.Ala54Val missense ACP1 3 83402 3.59704E-5 41701 0 1.19334E-5
2-272207-G-A p.Gly45Ser missense ACP1 12 83400 1.43885E-4 41700 0 3.18512E-5
2-272209-T-C p.Val55Ala missense ACP1 4 83400 4.79616E-5 41700 0 8.27253E-6
2-272213-G-A p.Val47Ile missense ACP1 2 83398 2.39814E-5 41699 0 3.18431E-5
2-272213-G-C p.Val47Leu missense ACP1 2 83398 2.39814E-5 41699 0 NA
2-272218-T-G p.Leu58Arg missense ACP1 2 83388 2.39843E-5 41694 0 1.19328E-5
2-272234-C-T p.Arg54Trp missense ACP1 1 83356 1.19967E-5 41678 0 3.18431E-5
2-272235-G-A p.Arg54Gln missense ACP1 2 83360 2.39923E-5 41680 0 8.34279E-6
2-272240-C-T p.Pro56Ser missense ACP1 2 83344 2.39969E-5 41672 0 1.9895E-5
2-272240-C-G p.Pro56Ala missense ACP1 2 83344 2.39969E-5 41672 0 1.5916E-4
2-272246-C-G p.Pro58Ala missense ACP1 3 83334 3.59997E-5 41667 0 7.95843E-6
2-272260-C-T p.Ser62Ser synonymous ACP1 2 83266 2.40194E-5 41633 0 1.71113E-5
2-272266-A-G p.Leu64Leu synonymous ACP1 2 83234 2.40286E-5 41617 0 7.96394E-6
2-272267-A-G p.Arg65Gly missense ACP1 2 83218 2.40333E-5 41609 0 8.70443E-6
2-272278-C-T p.Gly68Gly synonymous ACP1 3 83098 3.6102E-5 41549 0 1.19685E-5
2-272307-T-C c.231+2T>C splice_donor ACP1 1 82614 1.21045E-5 41307 0 NA
2-272313-A-G p.Lys80Arg missense ACP1 7 82466 8.48835E-5 41233 0 2.50476E-5
2-272319-T-C p.Leu82Ser missense ACP1 1 82342 1.21445E-5 41171 0 NA
2-272324-A-C p.Asn84His missense ACP1 292 82194 0.00355257 41097 2 0.00595314
2-272331-A-G p.Ter86Ter stop_retained ACP1 1 82080 1.21832E-5 41040 0 3.19591E-5
2-275136-T-C c.232-4T>C splice_region ACP1 1 80272 1.24576E-5 40136 0 3.1835E-5
2-275146-AAAG-A p.Glu81del disruptive_inframe_deletion ACP1 4 80666 4.95872E-5 40333 0 NA
2-275146-A-G p.Lys80Glu missense ACP1 3 80666 3.71904E-5 40333 0 1.65821E-5
2-275168-A-T p.Asp87Val missense ACP1 1 81258 1.23065E-5 40629 0 3.18695E-5
2-275189-A-AT p.Glu94fs frameshift ACP1 2 81012 2.46877E-5 40506 0 4.05959E-6
2-275197-C-A p.Leu97Met missense ACP1 2 81016 2.46865E-5 40508 0 NA
2-275205-A-T c.293+4A>T splice_region ACP1 1 80906 1.236E-5 40453 0 8.27993E-6
2-276986-G-A p.Glu80Lys missense ACP1 15 82260 1.82349E-4 41130 0 0.00303337
2-276998-TAATC-T p.Asn105fs frameshift ACP1 1 82722 1.20887E-5 41361 0 NA
2-277003-A-G p.Gln106Arg missense ACP1 23776 81868 0.290419 40934 3438 0.321205
2-277031-A-ACT p.Leu117fs frameshift ACP1 1 83284 1.20071E-5 41642 0 NA
2-277044-T-C p.Tyr120His missense ACP1 1 83308 1.20036E-5 41654 0 NA
2-277052-A-T p.Pro122Pro synonymous ACP1 1 83314 1.20028E-5 41657 0 NA
2-277062-CTTA-C p.Ile128del conservative_inframe_deletion ACP1 4 83320 4.80077E-5 41660 0 1.91022E-4
2-277069-T-C p.Ile128Thr missense ACP1 1 83322 1.20016E-5 41661 0 NA
2-277077-C-T p.Pro131Ser missense ACP1 1 83320 1.20019E-5 41660 0 NA
2-277086-G-GGGAATGACTCTGAC c.399+1_399+2insGGAATGACTCTGAC splice_donor ACP1 1 83326 1.20011E-5 41663 0 NA
2-277219-C-G c.400-8C>G splice_region ACP1 1 83398 1.19907E-5 41699 0 3.97978E-6
2-277221-A-G c.400-6A>G splice_region ACP1 4 83404 4.79593E-5 41702 0 NA
2-277229-G-A p.Gly134Gly splice_region+synonymous ACP1 629 83388 0.00754305 41694 0 0.00542496
2-277232-T-C p.Asn135Asn synonymous ACP1 2 83408 2.39785E-5 41704 0 3.1839E-5
2-277234-ACT-A p.Ser137fs frameshift ACP1 1 83402 1.19901E-5 41701 0 3.9795E-6
2-277249-C-T p.Thr141Met missense ACP1 6 83400 7.19424E-5 41700 0 6.36943E-5
2-277250-G-A p.Thr141Thr synonymous ACP1 191 83400 0.00229017 41700 1 0.00748312
2-277252-T-C p.Val142Ala missense ACP1 1 83394 1.19913E-5 41697 0 8.23642E-6
2-277253-G-A p.Val142Val synonymous ACP1 1 83394 1.19913E-5 41697 0 3.98E-6
2-277257-C-T p.Gln144* stop_gained ACP1 1 83380 1.19933E-5 41690 0 3.98035E-6
2-277263-T-C p.Cys146Arg missense ACP1 1 83362 1.19959E-5 41681 0 8.23642E-6
2-277268-C-T p.Val147Val synonymous ACP1 2 83344 2.39969E-5 41672 0 NA
2-277269-A-G p.Arg148Gly missense ACP1 1 83346 1.19982E-5 41673 0 3.97928E-6
2-277281-G-A p.Ala152Thr missense ACP1 1 83162 1.20247E-5 41581 0 3.97924E-6
2-277286-C-G p.Phe153Leu missense ACP1 1 83062 1.20392E-5 41531 0 NA
2-277506-A-G c.*374A>G splice_region ACP1 1 52582 1.90179E-5 26291 0 3.18329E-5