Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-107236868-A-G c.-659A>G 5_prime_UTR_premature_start_codon_gain AIMP1 485 2940 0.164966 1470 37 0.174034
4-107237329-G-T c.-198G>T 5_prime_UTR_premature_start_codon_gain AIMP1 1 3526 2.83607E-4 1763 0 NA
4-107237395-C-T c.-132C>T 5_prime_UTR_premature_start_codon_gain AIMP1 1438 10456 0.137529 5228 43 0.156236
4-107237442-G-C c.-85G>C 5_prime_UTR_premature_start_codon_gain AIMP1 1 28960 3.45304E-5 14480 0 3.18837E-5
4-107237473-C-T c.-54C>T 5_prime_UTR_premature_start_codon_gain AIMP1 4 45062 8.87666E-5 22531 0 3.20472E-5
4-107237484-A-G c.-43A>G 5_prime_UTR_premature_start_codon_gain AIMP1 1 53550 1.86741E-5 26775 0 NA
4-107237500-A-T c.-27A>T splice_region AIMP1 1 59238 1.68811E-5 29619 0 NA
4-107237503-T-G c.-26+2T>G splice_donor AIMP1 6 59968 1.00053E-4 29984 0 1.01557E-4
4-107237504-G-GC c.-26+3_-26+4insC splice_region AIMP1 2 60790 3.29001E-5 30395 0 NA
4-107237507-G-C c.-26+6G>C splice_region AIMP1 1 61850 1.61681E-5 30925 0 NA
4-107237682-A-G c.-23A>G 5_prime_UTR_premature_start_codon_gain AIMP1 4 81634 4.89992E-5 40817 0 NA
4-107237689-G-T c.-16G>T 5_prime_UTR_premature_start_codon_gain AIMP1 2 81646 2.4496E-5 40823 0 NA
4-107237703-A-G c.-2A>G 5_prime_UTR_premature_start_codon_gain AIMP1 1 81738 1.22342E-5 40869 0 NA
4-107237705-A-G p.Met1? start_lost AIMP1 3 81746 3.6699E-5 40873 0 6.37918E-5
4-107237705-A-C p.Met1? initiator_codon AIMP1 1 81746 1.2233E-5 40873 0 6.40156E-6
4-107237705-A-T p.Met1? initiator_codon AIMP1 2 81746 2.4466E-5 40873 0 6.40156E-6
4-107237707-G-C p.Met1? start_lost AIMP1 1 81750 1.22324E-5 40875 0 NA
4-107237709-T-C p.Leu2Pro missense AIMP1 2 81764 2.44606E-5 40882 0 4.79157E-5
4-107237710-T-G p.Leu2Leu synonymous AIMP1 2 81742 2.44672E-5 40871 0 4.79249E-5
4-107237713-T-C p.Pro3Pro synonymous AIMP1 3 81760 3.66928E-5 40880 0 6.37186E-5
4-107237717-G-A p.Val5Met missense AIMP1 1 81740 1.22339E-5 40870 0 4.79662E-5
4-107237718-T-C p.Val5Ala missense AIMP1 1 81732 1.22351E-5 40866 0 6.40492E-6
4-107237720-G-C p.Ala6Pro missense AIMP1 1 81716 1.22375E-5 40858 0 NA
4-107237723-G-A p.Val7Ile missense AIMP1 5 81652 6.12355E-5 40826 0 8.16366E-4
4-107237727-C-G p.Ser8Trp missense AIMP1 1 81606 1.2254E-5 40803 0 NA
4-107237727-C-T p.Ser8Leu missense AIMP1 1 81606 1.2254E-5 40803 0 NA
4-107237733-C-T p.Pro10Leu missense AIMP1 1 81568 1.22597E-5 40784 0 0.00359712
4-107237734-C-T p.Pro10Pro synonymous AIMP1 2 81548 2.45254E-5 40774 0 NA
4-107237739-T-C p.Val12Ala missense AIMP1 1 81516 1.22675E-5 40758 0 NA
4-107237740-C-T p.Val12Val synonymous AIMP1 2 81502 2.45393E-5 40751 0 4.86523E-5
4-107237743-C-T p.Leu13Leu synonymous AIMP1 9 81526 1.10394E-4 40763 0 6.41881E-6
4-107237750-A-C p.Met16Leu missense+splice_region AIMP1 1 81432 1.22802E-5 40716 0 6.42327E-6
4-107237752-G-GATTTTCTGCCGTCTCTTGGCAAAAATGGCAAATAATGATGC c.47+1_47+2insATTTTCTGCCGTCTCTTGGCAAAAATGGCAAATAATGATGC splice_donor AIMP1 2 81418 2.45646E-5 40709 0 NA
4-107237752-G-C c.47+1G>C splice_donor AIMP1 1 81426 1.22811E-5 40713 0 6.4288E-6
4-107237755-A-T c.47+4A>T splice_region AIMP1 2 81358 2.45827E-5 40679 0 1.28758E-5
4-107246136-C-A c.-25-6C>A splice_region AIMP1 12774 81322 0.157079 40661 966 0.220189
4-107246138-A-G c.-25-4A>G splice_region AIMP1 1 82104 1.21797E-5 41052 0 4.21653E-6
4-107246141-G-A c.-25-1G>A splice_acceptor AIMP1 3 82206 3.64937E-5 41103 0 9.91965E-6
4-107246143-A-T p.Ile17Phe missense+splice_region AIMP1 1 82268 1.21554E-5 41134 0 9.69932E-6
4-107246153-G-A p.Arg20His missense AIMP1 2 82274 2.4309E-5 41137 0 4.46796E-5
4-107246153-G-T p.Arg20Leu missense AIMP1 1 82274 1.21545E-5 41137 0 NA
4-107246160-G-T p.Leu22Phe missense AIMP1 1 82504 1.21206E-5 41252 0 NA
4-107246172-AAAT-A p.Asn4del conservative_inframe_deletion AIMP1 5 82698 6.0461E-5 41349 0 6.37146E-5
4-107246174-A-C p.Asn3Thr missense AIMP1 1 82716 1.20896E-5 41358 0 NA
4-107246176-A-G p.Asn4Asp missense AIMP1 1 82822 1.20741E-5 41411 0 8.46539E-6
4-107246183-C-G p.Ala6Gly missense AIMP1 5 82898 6.03151E-5 41449 0 NA
4-107246190-G-C p.Leu8Leu synonymous AIMP1 3610 82952 0.0435191 41476 93 0.0506059
4-107246197-C-G p.Leu11Val missense AIMP1 1 83068 1.20383E-5 41534 0 3.98702E-6
4-107246213-C-T p.Ala16Val missense AIMP1 1 83088 1.20354E-5 41544 0 NA
4-107246218-G-A p.Ala18Thr missense AIMP1 1 83080 1.20366E-5 41540 0 3.98368E-6
4-107246221-G-A p.Asp19Asn missense AIMP1 1 83080 1.20366E-5 41540 0 NA
4-107246235-A-C p.Glu23Asp missense AIMP1 3 83024 3.61341E-5 41512 0 9.16978E-5
4-107246237-A-T p.Tyr24Phe missense AIMP1 2 83004 2.40952E-5 41502 0 2.54181E-5
4-107246239-C-A p.Leu25Ile missense AIMP1 7 82996 8.43414E-5 41498 0 NA
4-107246251-G-C p.Val29Leu missense AIMP1 6 82976 7.23101E-5 41488 0 2.59363E-5
4-107246255-C-G p.Ser30Cys missense AIMP1 2 82946 2.41121E-5 41473 0 NA
4-107246259-A-G p.Leu31Leu synonymous AIMP1 2 82938 2.41144E-5 41469 0 3.18532E-5
4-107246277-TAAG-T c.109+3_109+5delAAG splice_region AIMP1 1 82772 1.20814E-5 41386 0 NA
4-107246281-A-T c.109+6A>T splice_region AIMP1 2 82704 2.41826E-5 41352 0 3.74513E-5
4-107246283-A-G c.109+8A>G splice_region AIMP1 1 82640 1.21007E-5 41320 0 NA
4-107248614-A-G p.Gln39Arg missense AIMP1 1 83124 1.20302E-5 41562 0 3.98267E-6
4-107248619-A-C p.Thr41Pro missense AIMP1 1 83148 1.20267E-5 41574 0 NA
4-107248643-C-T p.Arg49* stop_gained AIMP1 4 83226 4.80619E-5 41613 0 5.03525E-4
4-107248644-G-A p.Arg49Gln missense AIMP1 5 83226 6.00774E-5 41613 0 5.03525E-4
4-107248648-T-G p.Val50Val synonymous AIMP1 1 83242 1.20132E-5 41621 0 NA
4-107248657-TA-T p.Lys54fs frameshift AIMP1 3 83244 3.60386E-5 41622 0 3.18532E-5
4-107248680-A-G p.Glu61Gly missense AIMP1 1 83192 1.20204E-5 41596 0 3.98467E-6
4-107248688-CAA-C p.Gln64fs frameshift AIMP1 1 83176 1.20227E-5 41588 0 1.99206E-5
4-107248710-T-A p.Ile71Asn missense AIMP1 4 83006 4.81893E-5 41503 0 6.37267E-5
4-107248712-C-G p.Gln72Glu missense AIMP1 1 83010 1.20467E-5 41505 0 NA
4-107248722-G-A c.223+1G>A splice_donor AIMP1 1 82844 1.20709E-5 41422 0 4.00776E-6
4-107248722-G-T c.223+1G>T splice_donor AIMP1 1 82844 1.20709E-5 41422 0 NA
4-107248723-T-G c.223+2T>G splice_donor AIMP1 1 82818 1.20747E-5 41409 0 NA
4-107249228-C-T c.224-5C>T splice_region AIMP1 1 83040 1.20424E-5 41520 0 NA
4-107249232-G-A c.224-1G>A splice_acceptor AIMP1 1 83064 1.20389E-5 41532 0 NA
4-107249241-A-T p.Ile78Leu missense AIMP1 1 83094 1.20346E-5 41547 0 NA
4-107249244-C-G p.Pro79Ala missense AIMP1 2287 83060 0.0275343 41530 183 0.0679495
4-107249244-C-T p.Pro79Ser missense AIMP1 2 83096 2.40685E-5 41548 0 3.98321E-6
4-107249248-TTCCATCTGGTAC-T p.Ser82_Pro85del conservative_inframe_deletion AIMP1 3 83100 3.61011E-5 41550 0 NA
4-107249248-T-C p.Phe80Ser missense AIMP1 1 83100 1.20337E-5 41550 0 NA
4-107249254-C-G p.Ser82Cys missense AIMP1 2 83096 2.40685E-5 41548 0 6.25E-4
4-107249257-G-A p.Gly83Asp missense AIMP1 10 83110 1.20322E-4 41555 0 7.16658E-5
4-107249260-C-T p.Thr84Ile missense AIMP1 1 83122 1.20305E-5 41561 0 3.98127E-6
4-107249261-TC-T p.Pro85fs frameshift AIMP1 1 83126 1.20299E-5 41563 0 3.18431E-5
4-107249262-C-A p.Pro85Thr missense AIMP1 1 83126 1.20299E-5 41563 0 3.18593E-5
4-107249270-C-T p.His87His synonymous AIMP1 3 83130 3.60881E-5 41565 0 1.65243E-5
4-107249271-G-T p.Ala88Ser missense AIMP1 2 83130 2.40587E-5 41565 0 NA
4-107249275-A-G p.Asn89Ser missense AIMP1 7 83130 8.42055E-5 41565 0 0.00151057
4-107249277-T-G p.Ser90Ala missense AIMP1 1 83138 1.20282E-5 41569 0 NA
4-107249280-A-G p.Met91Val missense AIMP1 2 83142 2.40552E-5 41571 0 2.38878E-5
4-107249282-G-A p.Met91Ile missense AIMP1 1 83136 1.20285E-5 41568 0 NA
4-107249294-T-C p.Asn95Asn synonymous AIMP1 1 83158 1.20253E-5 41579 0 NA
4-107249298-A-C p.Ile97Leu missense AIMP1 2 83148 2.40535E-5 41574 0 1.65579E-5
4-107249307-A-G p.Thr100Ala missense AIMP1 1 83142 1.20276E-5 41571 0 3.98238E-6
4-107249309-A-G p.Thr100Thr synonymous AIMP1 2 83152 2.40523E-5 41576 0 9.95702E-5
4-107249316-A-G p.Thr103Ala missense AIMP1 2 83160 2.405E-5 41580 0 NA
4-107249318-A-C p.Thr103Thr synonymous AIMP1 68 83166 8.17642E-4 41583 1 0.008125
4-107249319-A-G p.Thr104Ala missense AIMP1 344 83164 0.0041364 41582 4 0.00942675
4-107249322-G-A p.Val105Ile missense AIMP1 2 83170 2.40471E-5 41585 0 NA
4-107249347-T-C p.Ile113Thr missense AIMP1 1 83136 1.20285E-5 41568 0 NA
4-107249348-A-G p.Ile113Met missense AIMP1 1 83138 1.20282E-5 41569 0 NA
4-107249358-A-G p.Thr117Ala missense AIMP1 1022 83102 0.0122981 41551 34 0.0256941
4-107249366-C-T p.Asp119Asp synonymous AIMP1 61 83070 7.3432E-4 41535 0 0.00102093
4-107249367-G-A p.Glu120Lys missense AIMP1 1 83060 1.20395E-5 41530 0 1.86491E-5
4-107249368-A-G p.Glu120Gly missense AIMP1 6 83060 7.22369E-5 41530 0 2.22887E-4
4-107249372-G-C p.Lys121Asn missense AIMP1 40 83030 4.81754E-4 41515 0 9.56389E-4
4-107249372-G-T p.Lys121Asn missense AIMP1 3 83030 3.61315E-5 41515 0 1.60618E-5
4-107249378-G-A p.Ala123Ala synonymous AIMP1 1 82972 1.20523E-5 41486 0 2.07056E-5
4-107249379-A-G p.Lys124Glu missense AIMP1 2 82958 2.41086E-5 41479 0 3.18451E-5
4-107249384-G-C p.Glu125Asp missense AIMP1 2 82860 2.41371E-5 41430 0 NA
4-107249389-T-C p.Ile127Thr missense AIMP1 1 82760 1.20831E-5 41380 0 NA
4-107249392-A-T p.Glu128Val missense AIMP1 1 82702 1.20916E-5 41351 0 NA
4-107249392-A-C p.Glu128Ala missense AIMP1 2 82702 2.41832E-5 41351 0 2.22859E-4
4-107249396-GAA-G p.Lys130fs frameshift AIMP1 1 82608 1.21054E-5 41304 0 NA
4-107249400-G-A p.Gly131Arg missense+splice_region AIMP1 1 82506 1.21203E-5 41253 0 4.24784E-6
4-107249408-T-G c.391+8T>G splice_region AIMP1 2 82162 2.43422E-5 41081 0 9.55414E-5
4-107252821-C-A c.392-8C>A splice_region AIMP1 2 82982 2.41016E-5 41491 0 NA
4-107252831-G-C p.Glu132Gln missense+splice_region AIMP1 1 83112 1.2032E-5 41556 0 8.29641E-6
4-107252838-A-C p.Lys134Thr missense AIMP1 1 83162 1.20247E-5 41581 0 1.65651E-5
4-107252842-G-GA p.Gln138fs frameshift AIMP1 1 83186 1.20213E-5 41593 0 NA
4-107252849-C-G p.Gln138Glu missense AIMP1 1 83228 1.20152E-5 41614 0 8.26911E-6
4-107252855-T-A p.Ser140Thr missense AIMP1 1 83252 1.20117E-5 41626 0 NA
4-107252869-T-A p.Ser144Arg missense AIMP1 2 83300 2.40096E-5 41650 0 1.64902E-5
4-107252872-C-T p.Ala145Ala synonymous AIMP1 2 83302 2.4009E-5 41651 0 8.24511E-6
4-107252873-G-A p.Asp146Asn missense AIMP1 1 83304 1.20042E-5 41652 0 4.94625E-5
4-107252885-A-G p.Ile150Val missense+splice_region AIMP1 1 83336 1.19996E-5 41668 0 8.2409E-6
4-107252896-C-A p.Ser153Ser synonymous AIMP1 9 83340 1.07991E-4 41670 0 4.37498E-5
4-107252897-C-T p.Arg154Cys missense AIMP1 3 83338 3.5998E-5 41669 0 4.94405E-5
4-107252898-G-A p.Arg154His missense AIMP1 1 83340 1.1999E-5 41670 0 2.78403E-5
4-107252903-G-A p.Asp156Asn missense AIMP1 1 83338 1.19993E-5 41669 0 8.23845E-6
4-107252909-C-T p.Arg158* stop_gained AIMP1 1 83342 1.19988E-5 41671 0 8.23859E-6
4-107252910-G-A p.Arg158Gln missense AIMP1 1 83340 1.1999E-5 41670 0 1.64766E-5
4-107252920-C-G p.Cys161Trp missense AIMP1 1 83336 1.19996E-5 41668 0 NA
4-107252925-T-A p.Ile163Lys missense AIMP1 4 83336 4.79985E-5 41668 0 8.23791E-6
4-107252928-C-T p.Thr164Ile missense AIMP1 3 83334 3.59997E-5 41667 0 3.29511E-5
4-107252941-C-T p.His168His synonymous AIMP1 1 83316 1.20025E-5 41658 0 NA
4-107252942-C-G p.Pro169Ala missense AIMP1 2 83312 2.40061E-5 41656 0 NA
4-107252979-T-A p.Val181Asp missense AIMP1 1 83258 1.20109E-5 41629 0 NA
4-107252980-C-T p.Val181Val synonymous AIMP1 3 83256 3.60334E-5 41628 0 9.06111E-5
4-107252981-G-A p.Gly182Arg missense AIMP1 6 83256 7.20669E-5 41628 0 1.19333E-4
4-107252988-T-C p.Ile184Thr missense AIMP1 1 83230 1.20149E-5 41615 0 NA
4-107253011-G-A p.Gly192Ser missense AIMP1 1 83176 1.20227E-5 41588 0 NA
4-107253015-T-A p.Leu193Gln missense AIMP1 2 83146 2.40541E-5 41573 0 9.88843E-5
4-107253016-G-C p.Leu193Leu synonymous AIMP1 1 83144 1.20273E-5 41572 0 3.18573E-5
4-107253019-G-A p.Val194Val synonymous AIMP1 5 83124 6.01511E-5 41562 0 2.47215E-5
4-107253029-C-T p.Pro198Ser missense AIMP1 84 83086 0.001011 41543 1 0.005
4-107258036-G-A p.Arg205Gln missense AIMP1 1 82980 1.20511E-5 41490 0 3.295E-5
4-107258039-T-A p.Met206Lys missense AIMP1 1 83024 1.20447E-5 41512 0 3.97988E-6
4-107258058-C-T p.Asn212Asn synonymous AIMP1 9 83128 1.08267E-4 41564 0 4.11841E-5
4-107258059-C-T p.Leu213Leu synonymous AIMP1 1 83134 1.20288E-5 41567 0 NA
4-107258075-TG-GA p.Met218Arg missense AIMP1 1 83204 1.20187E-5 41602 0 NA
4-107258083-G-C p.Val221Leu missense AIMP1 2 83226 2.4031E-5 41613 0 NA
4-107258112-T-C p.Ala230Ala synonymous AIMP1 1 83268 1.20094E-5 41634 0 NA
4-107258113-A-C p.Ser231Arg missense AIMP1 1 83262 1.20103E-5 41631 0 NA
4-107258115-T-C p.Ser231Ser synonymous AIMP1 2 83272 2.40177E-5 41636 0 7.95501E-6
4-107258120-C-T p.Pro233Leu missense AIMP1 1 83282 1.20074E-5 41641 0 NA
4-107258129-T-C p.Ile236Thr missense AIMP1 28 83286 3.36191E-4 41643 0 2.7445E-4
4-107258149-A-G p.Asn243Asp missense AIMP1 2 83264 2.402E-5 41632 0 3.97741E-6
4-107258150-A-G p.Asn243Ser missense AIMP1 1 83266 1.20097E-5 41633 0 NA
4-107258191-C-G p.Pro257Ala missense AIMP1 1 83158 1.20253E-5 41579 0 NA
4-107258195-G-GAGAGCC c.772+1_772+2insAGAGCC splice_donor AIMP1 1 83128 1.20296E-5 41564 0 NA
4-107258201-A-G c.772+7A>G splice_region AIMP1 1 83072 1.20378E-5 41536 0 7.56171E-5
4-107268681-A-C c.773-2A>C splice_acceptor AIMP1 3 82418 3.63998E-5 41209 0 4.19273E-5
4-107268689-C-T p.Pro260Leu missense AIMP1 2 82444 2.42589E-5 41222 0 NA
4-107268703-A-G p.Asn265Asp missense AIMP1 1 82472 1.21253E-5 41236 0 NA
4-107268708-T-C p.Pro266Pro synonymous AIMP1 3 82470 3.63769E-5 41235 0 1.65843E-5
4-107268736-C-A p.Pro276Thr missense AIMP1 1 82482 1.21239E-5 41241 0 NA
4-107268736-C-G p.Pro276Ala missense AIMP1 1 82482 1.21239E-5 41241 0 5.03525E-4
4-107268737-CT-C p.Asp277fs frameshift AIMP1 1 82490 1.21227E-5 41245 0 6.37308E-5
4-107268746-A-T p.His279Leu missense AIMP1 3 82492 3.63672E-5 41246 0 NA
4-107268755-A-T p.Asp282Val missense AIMP1 1 82476 1.21247E-5 41238 0 8.28212E-6
4-107268763-G-T p.Val285Leu missense AIMP1 1 82460 1.21271E-5 41230 0 NA
4-107268769-A-G p.Thr287Ala missense AIMP1 1 82416 1.21336E-5 41208 0 3.99087E-6
4-107268770-C-T p.Thr287Ile missense AIMP1 1 82418 1.21333E-5 41209 0 3.99125E-6
4-107268771-A-G p.Thr287Thr synonymous AIMP1 3 82408 3.64042E-5 41204 0 NA
4-107268783-T-A p.Val291Val synonymous AIMP1 1 82374 1.21398E-5 41187 0 NA
4-107268785-C-T p.Pro292Leu missense AIMP1 1 82366 1.21409E-5 41183 0 6.25E-4
4-107268793-G-A p.Val295Met missense AIMP1 2 82342 2.42889E-5 41171 0 4.15413E-5
4-107268807-A-G p.Gly299Gly synonymous AIMP1 2 82390 2.42748E-5 41195 0 NA
4-107268808-G-A p.Val300Ile missense AIMP1 1 82394 1.21368E-5 41197 0 7.98805E-6
4-107268811-T-C p.Cys301Arg missense AIMP1 1 82406 1.2135E-5 41203 0 NA
4-107268830-G-A p.Ser307Asn missense AIMP1 3 82516 3.63566E-5 41258 0 3.99626E-6
4-107268846-A-T p.Lys312Asn missense AIMP1 1 82526 1.21174E-5 41263 0 NA