Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-23442691-C-A p.Gln526His missense AJUBA 4 82970 4.82102E-5 41485 0 5.03525E-4
14-23442706-A-G p.His521His synonymous AJUBA 353 82966 0.00425476 41483 4 0.00726207
14-23442706-A-C p.His521Gln missense AJUBA 1 82978 1.20514E-5 41489 0 8.56208E-6
14-23442717-A-G p.Leu518Leu synonymous AJUBA 3 82936 3.61725E-5 41468 0 3.18634E-5
14-23442769-C-T p.Arg500Arg synonymous AJUBA 2 81834 2.44397E-5 40917 0 6.37064E-5
14-23442771-G-A p.Arg500Trp missense AJUBA 13 81674 1.59169E-4 40837 0 9.55657E-5
14-23442777-C-T p.Asp498Asn missense+splice_region AJUBA 1 81224 1.23116E-5 40612 0 NA
14-23442778-C-G c.1492-1G>C splice_acceptor AJUBA 1 81152 1.23226E-5 40576 0 4.02846E-6
14-23442779-T-C c.1492-2A>G splice_acceptor AJUBA 1 81082 1.23332E-5 40541 0 NA
14-23442781-G-T c.1492-4C>A splice_region AJUBA 1 80800 1.23762E-5 40400 0 NA
14-23442782-G-A c.1492-5C>T splice_region AJUBA 1 80654 1.23986E-5 40327 0 8.34362E-6
14-23443248-A-G c.1491+8T>C splice_region AJUBA 2 82814 2.41505E-5 41407 0 6.37674E-5
14-23443259-A-G p.Cys496Cys synonymous AJUBA 2 82860 2.41371E-5 41430 1 NA
14-23443303-C-A p.Val482Leu missense AJUBA 1 82978 1.20514E-5 41489 0 8.23818E-6
14-23443306-T-G p.Arg481Arg synonymous AJUBA 1 82984 1.20505E-5 41492 0 NA
14-23443309-C-T p.Val480Met missense AJUBA 2 82960 2.4108E-5 41480 0 3.18715E-5
14-23443310-G-A p.Ile479Ile synonymous AJUBA 5 82942 6.02831E-5 41471 0 5.03525E-4
14-23443320-C-G p.Cys476Ser missense AJUBA 33 82914 3.98003E-4 41457 0 6.69259E-4
14-23443321-A-G p.Cys476Arg missense AJUBA 3 82888 3.61934E-5 41444 0 1.64772E-5
14-23443865-C-T n.557G>A splice_region AJUBA 3 37830 7.93021E-5 18915 0 9.55475E-5
14-23443865-C-A n.557G>T splice_region AJUBA 1 37830 2.6434E-5 18915 0 NA
14-23444062-T-C p.Ile470Val missense AJUBA 5 83072 6.01888E-5 41536 0 8.33111E-6
14-23444084-C-T p.Lys462Lys synonymous AJUBA 3939 83044 0.0474327 41522 108 0.0511595
14-23444183-T-C p.Lys457Arg missense+splice_region AJUBA 3 83380 3.59799E-5 41690 0 2.39132E-4
14-23444206-T-C p.Val449Val synonymous AJUBA 2 83366 2.39906E-5 41683 0 8.24022E-6
14-23444247-G-A p.Leu436Leu synonymous AJUBA 1345 83286 0.0161492 41643 83 0.0351682
14-23444263-A-G p.Ile430Ile synonymous AJUBA 38 83262 4.56391E-4 41631 0 3.8219E-4
14-23444300-A-G p.Met1? start_lost AJUBA 1 82776 1.20808E-5 41388 0 NA
14-23444301-T-C p.Met1? start_lost AJUBA 85 82748 0.00102722 41374 0 0.0025
14-23444308-T-C c.-7A>G 5_prime_UTR_premature_start_codon_gain AJUBA 25 82516 3.02972E-4 41258 0 0.00100705
14-23444317-G-C c.1240-4C>G splice_region AJUBA 2 82094 2.43623E-5 41047 0 6.25E-4
14-23445721-C-G p.Gly395Arg missense AJUBA 1 83348 1.19979E-5 41674 0 NA
14-23445730-A-G c.1177-3T>C splice_region AJUBA 8 83350 9.59808E-5 41675 0 0.00125
14-23445879-G-C p.Ser384Cys missense AJUBA 1 83348 1.19979E-5 41674 0 NA
14-23445885-T-C p.Asn382Ser missense AJUBA 2 83344 2.39969E-5 41672 0 1.591E-5
14-23445909-C-T p.Arg374His missense AJUBA 2 83346 2.39964E-5 41673 0 1.19362E-5
14-23445934-G-C c.-156C>G 5_prime_UTR_premature_start_codon_gain AJUBA 2 83304 2.40085E-5 41652 0 NA
14-23445951-T-C c.-173A>G 5_prime_UTR_premature_start_codon_gain AJUBA 1 83202 1.20189E-5 41601 0 4.04037E-6
14-23446017-C-T c.-144+1G>A splice_donor AJUBA 1 80038 1.24941E-5 40019 0 0.00201072
14-23446091-A-G c.-313T>C 5_prime_UTR_premature_start_codon_gain AJUBA 1 57338 1.74404E-5 28669 0 NA
14-23446224-C-T c.-446G>A 5_prime_UTR_premature_start_codon_gain AJUBA 1 31340 3.19081E-5 15670 0 NA
14-23446247-G-A c.-469C>T 5_prime_UTR_premature_start_codon_gain AJUBA 8 29990 2.66756E-4 14995 0 3.18613E-5
14-23446259-G-A c.-481C>T 5_prime_UTR_premature_start_codon_gain AJUBA 11 29760 3.69624E-4 14880 0 3.18573E-4
14-23446315-G-A c.-537C>T 5_prime_UTR_premature_start_codon_gain AJUBA 83 27622 0.00300485 13811 1 0.00716561
14-23446679-C-A c.-144G>T 5_prime_UTR_premature_start_codon_gain AJUBA 3 3142 9.54806E-4 1571 0 5.73431E-4
14-23447550-C-T c.1108+3G>A splice_region AJUBA 2 82876 2.41324E-5 41438 0 1.64992E-5
14-23447557-A-G p.Ser368Ser synonymous AJUBA 6 83016 7.22752E-5 41508 0 9.07067E-5
14-23447592-T-C p.Ser357Gly missense AJUBA 1 83198 1.20195E-5 41599 0 NA
14-23447593-G-A p.Asp356Asp synonymous AJUBA 1 83198 1.20195E-5 41599 0 8.24266E-6
14-23447601-C-T p.Ala354Thr missense AJUBA 1 83202 1.20189E-5 41601 0 NA
14-23447608-G-A p.Ala351Ala synonymous AJUBA 2 83216 2.40338E-5 41608 0 6.3678E-5
14-23447648-C-G p.Cys338Ser missense AJUBA 1 83140 1.20279E-5 41570 0 NA
14-23447650-G-A p.Thr337Thr synonymous AJUBA 2 83126 2.40599E-5 41563 0 NA
14-23447656-TGAGAA-T c.1007-7_1007-3delTTCTC splice_region AJUBA 8 83084 9.62881E-5 41542 0 5.17281E-5
14-23448148-A-G p.Tyr141Tyr synonymous AJUBA 4 33268 1.20236E-4 16634 0 1.56196E-5
14-23448152-A-G p.Phe140Ser missense AJUBA 16 33268 4.80943E-4 16634 0 0.00383321
14-23448188-GA-G p.Ser128fs frameshift AJUBA 2 33262 6.01287E-5 16631 0 7.80616E-6
14-23448194-G-C p.Ser126Cys missense AJUBA 76 33260 0.00228503 16630 0 0.00280255
14-23448195-A-G p.Ser126Pro missense AJUBA 1 33262 3.00643E-5 16631 0 3.18532E-5
14-23448213-C-T p.Ala120Thr missense AJUBA 7 33260 2.10463E-4 16630 0 1.86012E-4
14-23448220-C-A p.Leu117Leu synonymous AJUBA 1 33262 3.00643E-5 16631 0 7.80652E-6
14-23448225-G-T p.Pro116Thr missense AJUBA 1 33258 3.0068E-5 16629 0 NA
14-23448250-G-A c.326-5C>T splice_region AJUBA 1 33258 3.0068E-5 16629 0 7.82301E-6
14-23448251-G-C c.326-6C>G splice_region AJUBA 3 33258 9.02039E-5 16629 0 1.56526E-5
14-23450462-T-G c.1006+8A>C splice_region AJUBA 1 80046 1.24928E-5 40023 0 8.43875E-6
14-23450486-G-A p.Ala330Ala synonymous AJUBA 1 81226 1.23113E-5 40613 0 NA
14-23450488-C-T p.Ala330Thr missense AJUBA 1 81266 1.23053E-5 40633 0 NA
14-23450492-T-C p.Pro328Pro synonymous AJUBA 8 81396 9.82849E-5 40698 0 2.23015E-4
14-23450498-C-T p.Arg326Arg synonymous AJUBA 1 81492 1.22711E-5 40746 0 2.02477E-5
14-23450505-C-G p.Arg324Pro missense AJUBA 1 81546 1.2263E-5 40773 0 NA
14-23450511-C-T p.Arg322Gln missense AJUBA 2 81588 2.45134E-5 40794 0 NA
14-23450512-G-A p.Arg322Trp missense AJUBA 1 81572 1.22591E-5 40786 0 NA
14-23450522-C-T p.Pro318Pro synonymous AJUBA 1 81720 1.22369E-5 40860 0 NA
14-23450531-A-G p.Pro315Pro synonymous AJUBA 1 81888 1.22118E-5 40944 0 4.03128E-6
14-23450533-G-C p.Pro315Ala missense AJUBA 1 81844 1.22184E-5 40922 0 1.71568E-5
14-23450536-C-G p.Gly314Arg missense AJUBA 1 81902 1.22097E-5 40951 0 NA
14-23450543-C-G p.Glu311Asp missense AJUBA 1 81864 1.22154E-5 40932 0 NA
14-23450545-C-T p.Glu311Lys missense AJUBA 1 81890 1.22115E-5 40945 0 8.63439E-6
14-23450548-C-G p.Glu310Gln missense AJUBA 1815 81858 0.0221725 40929 28 0.0208745
14-23450558-C-A p.Pro306Pro synonymous AJUBA 2 81864 2.44308E-5 40932 0 3.18695E-5
14-23450558-C-T p.Pro306Pro synonymous AJUBA 1 81864 1.22154E-5 40932 0 8.08774E-6
14-23450561-C-T p.Glu305Glu synonymous AJUBA 2 81922 2.44135E-5 40961 0 9.55536E-5
14-23450565-A-G p.Ile304Thr missense AJUBA 2 81978 2.43968E-5 40989 0 NA
14-23450573-G-C p.Pro301Pro synonymous AJUBA 1 82046 1.21883E-5 41023 0 8.85787E-6
14-23450575-G-T p.Pro301Thr missense AJUBA 6 82026 7.31475E-5 41013 0 1.27421E-4
14-23450575-G-A p.Pro301Ser missense AJUBA 2 82026 2.43825E-5 41013 0 NA
14-23450610-C-T p.Gly289Asp missense AJUBA 1 81864 1.22154E-5 40932 0 NA
14-23450611-C-T p.Gly289Ser missense AJUBA 1 81900 1.221E-5 40950 0 9.45877E-6
14-23450625-A-G p.Leu284Pro missense AJUBA 1 81790 1.22264E-5 40895 0 4.10597E-6
14-23450639-C-G p.Glu279Asp missense AJUBA 13 81578 1.59357E-4 40789 0 1.67511E-4
14-23450650-A-T p.Tyr276Asn missense AJUBA 1 81094 1.23314E-5 40547 0 NA
14-23450666-G-A p.Cys270Cys synonymous AJUBA 4 80476 4.97043E-5 40238 0 4.96253E-5
14-23450669-G-A p.Asp269Asp synonymous AJUBA 3 80416 3.7306E-5 40208 0 NA
14-23450672-C-G p.Gly268Gly synonymous AJUBA 1 80404 1.24372E-5 40202 0 4.30812E-6
14-23450681-G-A p.Thr265Thr synonymous AJUBA 6 79688 7.52936E-5 39844 0 6.89009E-5
14-23450701-G-T p.Pro259Thr missense AJUBA 9 77240 1.1652E-4 38620 0 0.0010142
14-23450702-T-C p.Gln258Gln synonymous AJUBA 1 77116 1.29675E-5 38558 0 4.89822E-6
14-23450711-C-A p.Arg255Arg synonymous AJUBA 25 77538 3.22423E-4 38769 0 0.0015213
14-23450711-C-G p.Arg255Arg synonymous AJUBA 4 77542 5.15849E-5 38771 0 1.12116E-4
14-23450712-C-T p.Arg255Gln missense AJUBA 1 77252 1.29446E-5 38626 0 NA
14-23450716-T-C p.Arg254Gly missense AJUBA 3 76022 3.94623E-5 38011 0 0.0101937
14-23450717-C-A p.Glu253Asp missense AJUBA 1 76732 1.30324E-5 38366 0 NA
14-23450722-A-G p.Leu252Leu synonymous AJUBA 1 76036 1.31517E-5 38018 0 0.0358607
14-23450734-C-T p.Ala248Thr missense AJUBA 1 77778 1.28571E-5 38889 0 NA
14-23450757-G-A p.Ala240Val missense AJUBA 1 77534 1.28976E-5 38767 0 NA
14-23450761-C-T p.Gly239Arg missense AJUBA 1 77518 1.29002E-5 38759 0 NA
14-23450766-C-A p.Ser237Ile missense AJUBA 2 77270 2.58833E-5 38635 0 NA
14-23450780-G-A p.Pro232Pro synonymous AJUBA 2 77218 2.59007E-5 38609 0 NA
14-23450798-T-C p.Glu226Glu synonymous AJUBA 1 76224 1.31192E-5 38112 0 1.0004E-4
14-23450848-C-T p.Ala210Thr missense AJUBA 8 73672 1.08589E-4 36836 0 2.95247E-4
14-23450849-G-C p.Ala209Ala synonymous AJUBA 1 73606 1.35858E-5 36803 0 1.46929E-4
14-23450850-G-C p.Ala209Gly missense AJUBA 5 73512 6.80161E-5 36756 0 1.47842E-4
14-23450852-G-A p.His208His synonymous AJUBA 4 73326 5.45509E-5 36663 0 0.00208551
14-23450852-G-T p.His208Gln missense AJUBA 1 73326 1.36377E-5 36663 0 1.523E-4
14-23450862-G-A p.Pro205Leu missense AJUBA 1 72736 1.37484E-5 36368 0 6.37308E-5
14-23450872-A-G p.Ser202Pro missense AJUBA 2 71288 2.80552E-5 35644 0 1.87266E-4
14-23450879-C-T p.Gly199Gly synonymous AJUBA 1 70522 1.418E-5 35261 0 0.00211864
14-23450887-G-C p.Pro197Ala missense AJUBA 1 69692 1.43488E-5 34846 0 3.18735E-5
14-23450887-G-T p.Pro197Thr missense AJUBA 1 69692 1.43488E-5 34846 0 NA
14-23450901-G-A p.Pro192Leu missense AJUBA 1 67732 1.47641E-5 33866 0 1.69087E-5
14-23450907-C-G p.Gly190Ala missense AJUBA 9 66792 1.34747E-4 33396 0 6.37227E-5
14-23450908-C-T p.Gly190Arg missense AJUBA 1 66464 1.50457E-5 33232 0 8.56164E-6
14-23450909-G-A p.Ala189Ala synonymous AJUBA 2 66328 3.01532E-5 33164 0 NA
14-23450934-G-A p.Pro181Leu missense AJUBA 1 61796 1.61823E-5 30898 0 7.87575E-6
14-23450938-C-T p.Gly180Arg missense AJUBA 1 61310 1.63106E-5 30655 0 NA
14-23450990-G-A p.Thr162Thr synonymous AJUBA 3 59638 5.03035E-5 29819 0 3.18695E-5
14-23451047-C-G p.Leu143Leu synonymous AJUBA 1 64050 1.56128E-5 32025 0 NA
14-23451051-A-T p.Leu142Gln missense AJUBA 1 64324 1.55463E-5 32162 0 NA
14-23451053-G-A p.Ser141Ser synonymous AJUBA 1 64352 1.55395E-5 32176 0 NA
14-23451073-G-A p.Pro135Ser missense AJUBA 1 66288 1.50857E-5 33144 0 NA
14-23451080-C-T p.Ala132Ala synonymous AJUBA 3 66994 4.47801E-5 33497 0 0.00105042
14-23451116-G-C p.Pro120Pro synonymous AJUBA 1 72314 1.38286E-5 36157 0 NA
14-23451124-G-A p.Leu118Phe missense AJUBA 1 73402 1.36236E-5 36701 0 NA
14-23451146-C-A p.Arg110Arg synonymous AJUBA 3 76482 3.92249E-5 38241 0 3.18918E-5
14-23451159-G-A p.Pro106Leu missense AJUBA 1 77810 1.28518E-5 38905 0 3.18898E-5
14-23451165-G-C p.Ser104Trp missense AJUBA 1 78302 1.27711E-5 39151 0 NA
14-23451167-C-G p.Gln103His missense AJUBA 1 78488 1.27408E-5 39244 0 1.01681E-5
14-23451173-T-C p.Leu101Leu synonymous AJUBA 1 78740 1.27E-5 39370 0 6.4082E-5
14-23451175-G-A p.Leu101Leu synonymous AJUBA 1 78960 1.26646E-5 39480 0 NA
14-23451178-G-A p.Pro100Ser missense AJUBA 1 79054 1.26496E-5 39527 0 NA
14-23451187-G-A p.Arg97Trp missense AJUBA 1 79630 1.25581E-5 39815 0 NA
14-23451188-G-T p.Thr96Thr synonymous AJUBA 1 79672 1.25515E-5 39836 0 NA
14-23451193-G-A p.Pro95Ser missense AJUBA 1 79712 1.25452E-5 39856 0 NA
14-23451198-G-C p.Pro93Arg missense AJUBA 3 79872 3.75601E-5 39936 0 5.01807E-6
14-23451204-G-C p.Ala91Gly missense AJUBA 1 80128 1.248E-5 40064 0 NA
14-23451205-C-T p.Ala91Thr missense AJUBA 2 80278 2.49134E-5 40139 0 6.37999E-5
14-23451216-C-G p.Gly87Ala missense AJUBA 3 81086 3.69978E-5 40543 0 3.19E-5
14-23451216-C-A p.Gly87Val missense AJUBA 6 81086 7.39955E-5 40543 0 0.00125471
14-23451221-G-A p.Tyr85Tyr synonymous AJUBA 1 81254 1.23071E-5 40627 0 3.18959E-5
14-23451223-A-C p.Tyr85Asp missense AJUBA 3 81352 3.68768E-5 40676 0 2.85943E-5
14-23451240-G-T p.Ser79Tyr missense AJUBA 1 81902 1.22097E-5 40951 0 6.26566E-4
14-23451244-C-T p.Gly78Ser missense AJUBA 1 81992 1.21963E-5 40996 0 6.38407E-5
14-23451276-T-C p.Gln67Arg missense AJUBA 3 82744 3.62564E-5 41372 0 7.25073E-5
14-23451282-C-G p.Arg65Pro missense AJUBA 5 82742 6.04288E-5 41371 0 3.19326E-5
14-23451293-C-A p.Leu61Phe missense AJUBA 1 82812 1.20755E-5 41406 0 NA
14-23451296-C-T p.Pro60Pro synonymous AJUBA 2 82812 2.41511E-5 41406 0 NA
14-23451313-C-T p.Gly55Arg missense AJUBA 1 82782 1.20799E-5 41391 0 NA
14-23451318-G-A p.Thr53Ile missense AJUBA 1 82750 1.20846E-5 41375 0 NA
14-23451342-C-T p.Arg45Lys missense AJUBA 1 82738 1.20863E-5 41369 0 NA
14-23451345-G-A p.Pro44Leu missense AJUBA 1058 82712 0.0127914 41356 11 0.0134635
14-23451348-C-G p.Gly43Ala missense AJUBA 20 82746 2.41704E-4 41373 0 1.24164E-4
14-23451353-C-G p.Leu41Phe missense AJUBA 8 82782 9.66394E-5 41391 0 3.66961E-5
14-23451364-G-A p.Leu38Leu synonymous AJUBA 3 82738 3.6259E-5 41369 0 8.61326E-6
14-23451367-G-T p.Arg37Ser missense AJUBA 8 82738 9.66908E-5 41369 0 6.87569E-5
14-23451376-C-G p.Gly34Arg missense AJUBA 3 82718 3.62678E-5 41359 0 NA
14-23451377-C-T p.Pro33Pro synonymous AJUBA 2 82722 2.41774E-5 41361 0 NA
14-23451377-C-G p.Pro33Pro synonymous AJUBA 1 82722 1.20887E-5 41361 0 NA
14-23451389-C-T p.Gly29Gly synonymous AJUBA 2 82716 2.41791E-5 41358 0 1.61041E-5
14-23451392-G-A p.Asp28Asp synonymous AJUBA 1 82734 1.20869E-5 41367 0 4.02068E-6
14-23451406-G-T p.Arg24Arg synonymous AJUBA 1 82742 1.20858E-5 41371 0 NA
14-23451409-T-C p.Ser23Gly missense AJUBA 3 82740 3.62582E-5 41370 0 2.234E-4
14-23451412-A-G p.Ser22Pro missense AJUBA 2 82718 2.41785E-5 41359 0 1.2049E-5
14-23451418-C-A p.Gly20Cys missense AJUBA 1 82706 1.2091E-5 41353 0 2.50363E-5
14-23451426-C-A p.Arg17Leu missense AJUBA 1 82596 1.21071E-5 41298 0 NA
14-23451427-G-A p.Arg17Cys missense AJUBA 3 82610 3.63152E-5 41305 0 5.84122E-5
14-23451430-C-T p.Gly16Ser missense AJUBA 1 82632 1.21018E-5 41316 0 NA
14-23451446-G-A p.Arg10Arg synonymous AJUBA 2 82590 2.4216E-5 41295 0 7.51365E-5
14-23451459-T-A p.Glu6Val missense AJUBA 2 82578 2.42195E-5 41289 0 NA
14-23451534-G-A c.-59C>T 5_prime_UTR_premature_start_codon_gain AJUBA 1 81110 1.23289E-5 40555 0 NA
14-23451712-G-A c.-237C>T 5_prime_UTR_premature_start_codon_gain AJUBA 10690 50036 0.213646 25018 779 0.241961
14-23451721-G-A c.-246C>T 5_prime_UTR_premature_start_codon_gain AJUBA 1 49530 2.01898E-5 24765 0 NA
14-23451732-T-C c.-257A>G 5_prime_UTR_premature_start_codon_gain AJUBA 1 46310 2.15936E-5 23155 0 NA
14-23451748-G-A c.-273C>T 5_prime_UTR_premature_start_codon_gain AJUBA 1 39952 2.503E-5 19976 0 NA
14-23451756-C-A c.-281G>T 5_prime_UTR_premature_start_codon_gain AJUBA 1 37568 2.66184E-5 18784 0 NA
14-23451798-C-T c.-323G>A 5_prime_UTR_premature_start_codon_gain AJUBA 1 31878 3.13696E-5 15939 0 NA