Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-134127489-T-A p.Glu314Asp missense AKR1B1 7 83138 8.41974E-5 41569 0 5.96535E-5
7-134127495-G-A p.Phe312Phe synonymous AKR1B1 159 83178 0.00191156 41589 3 0.003125
7-134129980-GCTCA-G c.908+6_908+9delTGAG splice_region AKR1B1 1 81206 1.23144E-5 40603 0 2.09209E-5
7-134129998-G-A p.Ala300Ala synonymous AKR1B1 1 81494 1.22708E-5 40747 0 4.01332E-6
7-134130002-CA-C p.Cys299fs frameshift AKR1B1 2 81564 2.45206E-5 40782 0 NA
7-134130010-C-G p.Trp296Cys missense AKR1B1 3 81728 3.67071E-5 40864 0 3.75256E-5
7-134130034-G-A p.Thr288Thr synonymous AKR1B1 2 82376 2.42789E-5 41188 0 6.36983E-5
7-134130035-G-A p.Thr288Ile missense AKR1B1 8 82398 9.70897E-5 41199 0 1.59215E-4
7-134130045-C-T p.Asp285Asn missense AKR1B1 3 82512 3.63583E-5 41256 0 6.40425E-5
7-134130046-C-G p.Gln284His missense AKR1B1 1 82560 1.21124E-5 41280 0 4.00253E-6
7-134130049-G-A p.Ser283Ser synonymous AKR1B1 1 82560 1.21124E-5 41280 0 6.37186E-5
7-134130055-C-T p.Leu281Leu synonymous AKR1B1 1 82614 1.21045E-5 41307 0 9.74488E-6
7-134130058-T-G p.Glu280Asp missense AKR1B1 2 82582 2.42184E-5 41291 0 NA
7-134130061-A-G p.Phe279Phe synonymous AKR1B1 1 82588 1.21083E-5 41294 0 NA
7-134130073-C-T c.826-1G>A splice_acceptor AKR1B1 1 82492 1.21224E-5 41246 0 1.07229E-5
7-134132044-TCTTAC-T c.825+1_825+5delGTAAG splice_donor AKR1B1 1 83036 1.2043E-5 41518 0 NA
7-134132045-C-A c.825+5G>T splice_region AKR1B1 1 83062 1.20392E-5 41531 0 3.97829E-6
7-134132068-G-A p.Arg269Arg synonymous AKR1B1 17 83284 2.04121E-4 41642 0 1.27437E-4
7-134132072-T-C p.Glu268Gly missense AKR1B1 1 83298 1.20051E-5 41649 0 1.27453E-4
7-134132088-T-C p.Lys263Glu missense AKR1B1 12 83334 1.43999E-4 41667 0 1.97795E-4
7-134132096-A-G p.Val260Ala missense AKR1B1 1 83340 1.1999E-5 41670 0 NA
7-134132100-C-A p.Val259Leu missense AKR1B1 1 83336 1.19996E-5 41668 0 1.19324E-5
7-134132103-A-G p.Leu258Leu synonymous AKR1B1 1 83348 1.19979E-5 41674 0 NA
7-134132108-C-T p.Arg256Lys missense AKR1B1 1 83340 1.1999E-5 41670 0 2.86642E-4
7-134132123-C-T p.Arg251Gln missense AKR1B1 6 83338 7.1996E-5 41669 0 1.27462E-4
7-134132125-G-T p.Ile250Ile synonymous AKR1B1 4 83328 4.80031E-5 41664 0 5.77148E-5
7-134132132-A-G p.Val248Ala missense+splice_region AKR1B1 1 83326 1.20011E-5 41663 0 5.04541E-4
7-134132137-T-C c.742-4A>G splice_region AKR1B1 1 83324 1.20013E-5 41662 0 NA
7-134132209-C-A c.*468+4G>T splice_region AKR1B1 1 81036 1.23402E-5 40518 0 NA
7-134132211-A-G c.*468+2T>C splice_donor AKR1B1 1 80866 1.23661E-5 40433 0 NA
7-134132213-C-G c.*468G>C splice_region AKR1B1 1 80714 1.23894E-5 40357 0 NA
7-134132214-T-C c.*467A>G splice_region AKR1B1 1 80508 1.24211E-5 40254 0 NA
7-134132600-CTG-C n.858_*1delCA splice_region AKR1B1 1 76866 1.30097E-5 38433 0 NA
7-134132691-A-G p.Leu261Pro missense AKR1B1 288 82452 0.00349294 41226 4 0.00807327
7-134132692-G-A p.Leu261Leu synonymous AKR1B1 2 82480 2.42483E-5 41240 0 6.26566E-5
7-134132699-G-A p.His258His synonymous AKR1B1 1 82536 1.21159E-5 41268 0 NA
7-134132705-G-A p.Thr256Thr synonymous AKR1B1 5 82662 6.04873E-5 41331 0 2.23385E-4
7-134132707-T-C p.Thr256Ala missense AKR1B1 1 82582 1.21092E-5 41291 0 NA
7-134132710-G-C p.Leu255Val missense AKR1B1 1 82692 1.20931E-5 41346 0 8.39461E-6
7-134132710-G-A n.547C>T splice_region AKR1B1 2 82692 2.41861E-5 41346 0 4.19731E-6
7-134132711-C-A p.Leu254Phe missense AKR1B1 1 82704 1.20913E-5 41352 0 3.01305E-5
7-134132711-C-T p.Leu254Leu synonymous AKR1B1 1 82704 1.20913E-5 41352 0 1.50652E-5
7-134132716-C-T p.Val253Met missense AKR1B1 1 82792 1.20785E-5 41396 0 NA
7-134132721-A-G p.Leu251Pro missense AKR1B1 4 82846 4.82824E-5 41423 0 8.17909E-6
7-134132722-G-T p.Leu251Ile missense AKR1B1 1 82858 1.20688E-5 41429 0 1.26817E-5
7-134132737-C-T p.Ala246Thr missense AKR1B1 1 82966 1.20531E-5 41483 0 4.02372E-6
7-134132753-C-T p.Lys240Lys synonymous AKR1B1 401 83042 0.00482888 41521 2 0.00626697
7-134132761-C-T p.Ala238Thr missense AKR1B1 10 83070 1.2038E-4 41535 0 7.51724E-5
7-134132762-G-A p.Ile237Ile synonymous AKR1B1 1 83076 1.20372E-5 41538 0 4.687E-5
7-134132765-C-T p.Ala236Ala synonymous AKR1B1 8 83080 9.62927E-5 41540 0 1.27657E-4
7-134132780-A-G p.Asp231Asp synonymous AKR1B1 63 83108 7.5805E-4 41554 0 0.00151057
7-134132790-A-T p.Leu228His missense AKR1B1 4 83070 4.81522E-5 41535 0 3.19285E-5
7-134132796-G-A p.Pro226Leu missense AKR1B1 11 83022 1.32495E-4 41511 0 1.59632E-4
7-134132803-C-T p.Glu224Lys missense AKR1B1 3 82886 3.61943E-5 41443 0 1.20539E-5
7-134132805-G-T p.Pro223His missense AKR1B1 1 82814 1.20753E-5 41407 0 4.01664E-6
7-134132810-G-T p.Ala221Ala synonymous AKR1B1 1 82650 1.20992E-5 41325 0 NA
7-134132812-C-CCCAGGG p.Trp220_Ala221insProTrp conservative_inframe_insertion AKR1B1 2 82590 2.4216E-5 41295 1 NA
7-134133132-A-G c.659+7T>C splice_region AKR1B1 1 81760 1.22309E-5 40880 0 1.66298E-5
7-134133138-C-T c.659+1G>A splice_donor AKR1B1 1 81864 1.22154E-5 40932 0 NA
7-134133139-C-G p.Trp220Ser missense+splice_region AKR1B1 1 81878 1.22133E-5 40939 0 1.99232E-5
7-134133139-C-T p.Trp220* stop_gained AKR1B1 1 81878 1.22133E-5 40939 0 NA
7-134133142-G-A p.Pro219Leu missense AKR1B1 1 81930 1.22055E-5 40965 0 NA
7-134133146-T-C p.Arg218Gly missense AKR1B1 4 81986 4.87888E-5 40993 0 NA
7-134133155-A-C p.Ser215Ala missense AKR1B1 1 82070 1.21847E-5 41035 0 3.98213E-6
7-134133158-C-T p.Gly214Ser missense AKR1B1 1 82090 1.21818E-5 41045 0 3.9821E-6
7-134133159-G-A p.Leu213Leu synonymous AKR1B1 18 82128 2.1917E-4 41064 0 1.43334E-4
7-134133168-G-A p.Tyr210Tyr synonymous AKR1B1 1 82224 1.21619E-5 41112 0 6.37064E-5
7-134133169-T-C p.Tyr210Cys missense AKR1B1 4 82246 4.86346E-5 41123 0 9.5584E-5
7-134133173-C-T p.Ala209Thr missense AKR1B1 2 82252 2.43155E-5 41126 0 8.26583E-6
7-134133177-C-T p.Val207Val synonymous AKR1B1 1 82312 1.21489E-5 41156 0 NA
7-134133179-C-A p.Val207Leu missense AKR1B1 6 82330 7.28774E-5 41165 0 6.61091E-5
7-134133182-C-T p.Val206Met missense AKR1B1 64 82362 7.77057E-4 41181 0 8.92004E-4
7-134133182-C-G p.Val206Leu missense AKR1B1 1 82366 1.21409E-5 41183 0 NA
7-134133183-G-A p.Ile205Ile synonymous AKR1B1 1 82406 1.2135E-5 41203 0 5.0813E-4
7-134133195-C-A p.Gln201His missense AKR1B1 2 82552 2.42272E-5 41276 0 1.65232E-5
7-134133197-G-A p.Gln201* stop_gained AKR1B1 1 82592 1.21077E-5 41296 0 NA
7-134133199-C-A p.Cys200Phe missense AKR1B1 1 82620 1.21036E-5 41310 0 3.58049E-5
7-134133213-C-T p.Lys195Lys synonymous AKR1B1 19 82866 2.29286E-4 41433 1 0.00104168
7-134133218-C-T p.Glu194Lys missense AKR1B1 1 82936 1.20575E-5 41468 0 NA
7-134133228-A-AGGTTACCCGGGGAGAATCTCGCTCT p.Tyr190fs frameshift AKR1B1 1 83038 1.20427E-5 41519 0 NA
7-134133229-T-A p.Tyr190Phe missense AKR1B1 1 83044 1.20418E-5 41522 0 NA
7-134133246-C-CTGCAA c.553-2_553-1insTTGCA splice_acceptor AKR1B1 1 83124 1.20302E-5 41562 0 NA
7-134133248-G-GGTTAACTGCAGGCTTATACTTCAAGC c.553-4_553-3insGCTTGAAGTATAAGCCTGCAGTTAAC splice_region AKR1B1 2 83124 2.40604E-5 41562 1 NA
7-134133742-T-C c.552+7A>G splice_region AKR1B1 1 82898 1.2063E-5 41449 0 8.74835E-5
7-134133743-G-T c.552+6C>A splice_region AKR1B1 4 82922 4.82381E-5 41461 0 1.91205E-4
7-134133781-G-A p.Pro174Ser missense AKR1B1 1 83326 1.20011E-5 41663 0 NA
7-134133810-T-C p.His164Arg missense AKR1B1 3 83368 3.5985E-5 41684 0 NA
7-134133812-G-A n.1186C>T splice_region AKR1B1 1 83364 1.19956E-5 41682 0 NA
7-134133822-G-T p.Ser160Tyr missense AKR1B1 1 83364 1.19956E-5 41682 0 3.97627E-6
7-134133828-C-A p.Gly158Val missense AKR1B1 1 83360 1.19962E-5 41680 0 6.58913E-5
7-134133834-G-A p.Ala156Val missense AKR1B1 1 83348 1.19979E-5 41674 0 1.64728E-5
7-134133868-T-G p.Met145Leu missense AKR1B1 1 83300 1.20048E-5 41650 0 NA
7-134133884-GTGTC-G n.497-1_499delGACA splice_acceptor AKR1B1 504 83094 0.00606542 41547 6 0.0151341
7-134133886-G-A n.498C>T splice_region AKR1B1 1 83056 1.20401E-5 41528 0 8.28171E-6
7-134133893-T-C n.497-6A>G splice_region AKR1B1 2 82962 2.41074E-5 41481 0 NA
7-134133895-G-A n.497-8C>T splice_region AKR1B1 1 82928 1.20587E-5 41464 0 8.24103E-6
7-134134329-A-AC n.639dupG splice_region AKR1B1 3120 69152 0.045118 34576 113 0.0722297
7-134134331-C-T n.638G>A splice_region AKR1B1 2 70242 2.8473E-5 35121 0 4.02382E-5
7-134134439-A-G n.559T>C splice_region AKR1B1 1 82756 1.20837E-5 41378 0 NA
7-134134466-T-C c.429+6A>G splice_region AKR1B1 435 83244 0.0052256 41622 0 0.00952897
7-134134468-T-C c.429+4A>G splice_region AKR1B1 1 83276 1.20083E-5 41638 0 8.23981E-6
7-134134473-G-A p.Ala143Val missense+splice_region AKR1B1 5 83306 6.00197E-5 41653 0 6.25E-4
7-134134478-C-T p.Thr141Thr synonymous AKR1B1 551 83326 0.00661258 41663 14 0.0132594
7-134134479-G-A p.Thr141Met missense AKR1B1 4 83338 4.79973E-5 41669 0 1.39176E-4
7-134134480-T-A p.Thr141Ser missense AKR1B1 1 83352 1.19973E-5 41676 0 4.77164E-5
7-134134481-G-A p.Asp140Asp synonymous AKR1B1 2 83362 2.39917E-5 41681 0 6.59152E-5
7-134134512-T-C p.Asn130Ser missense AKR1B1 4 83394 4.79651E-5 41697 0 6.25E-4
7-134134517-C-T p.Ser128Ser synonymous AKR1B1 59 83392 7.07502E-4 41696 0 0.00121212
7-134134518-G-A p.Ser128Leu missense AKR1B1 1 83390 1.19918E-5 41695 0 2.47361E-5
7-134134541-C-G p.Lys120Asn missense AKR1B1 10 83342 1.19988E-4 41671 0 3.50542E-4
7-134134551-T-TTAAAGCCAGTCGGCCAGTGAATAAGGTA c.352-3_352-2insTACCTTATTCACTGGCCGACTGGCTTTA splice_region AKR1B1 1 83334 1.19999E-5 41667 0 NA
7-134134551-T-TTAAAGCCAGTCGGCCAGTGAATAAGGTAGAGGTCCAGGTA c.352-3_352-2insTACCTGGACCTCTACCTTATTCACTGGCCGACTGGCTTTA splice_region AKR1B1 1 83336 1.19996E-5 41668 0 NA
7-134135544-G-A p.Gly115Gly synonymous AKR1B1 1 83016 1.20459E-5 41508 0 3.97801E-6
7-134135550-C-T p.Pro113Pro synonymous AKR1B1 9 83082 1.08327E-4 41541 1 6.34769E-4
7-134135568-G-C p.Leu107Leu synonymous AKR1B1 3 83280 3.60231E-5 41640 0 6.36862E-5
7-134135571-G-A p.Asp106Asp synonymous AKR1B1 1 83288 1.20065E-5 41644 0 NA
7-134135581-T-A p.Asp103Val missense AKR1B1 106 83294 0.0012726 41647 1 0.00194329
7-134135586-C-T p.Lys101Lys synonymous AKR1B1 4 83300 4.80192E-5 41650 0 3.97706E-5
7-134135593-T-A p.Asp99Val missense AKR1B1 1 83300 1.20048E-5 41650 0 NA
7-134135595-G-A p.Ser98Ser synonymous AKR1B1 160 83298 0.00192081 41649 2 0.0060423
7-134135610-G-A p.Cys93Cys synonymous AKR1B1 17 83304 2.04072E-4 41652 0 5.03525E-4
7-134135621-T-C p.Lys90Glu missense AKR1B1 1164 83264 0.0139796 41632 17 0.0128527
7-134135643-C-T p.Val101Ile missense AKR1B1 24 83200 2.88462E-4 41600 0 6.25E-4
7-134135644-G-A p.Thr82Met missense AKR1B1 3 83194 3.60603E-5 41597 0 3.97912E-5
7-134135652-C-T p.Val98Met missense AKR1B1 5 83150 6.01323E-5 41575 0 1.19392E-5
7-134135661-C-T p.Gly95Ser missense AKR1B1 1 83060 1.20395E-5 41530 0 8.39899E-6
7-134135664-C-T p.Ala94Thr missense AKR1B1 2 82988 2.40999E-5 41494 0 1.99262E-5
7-134135665-G-A p.Leu93Leu synonymous AKR1B1 2 82994 2.40981E-5 41497 0 1.43442E-4
7-134135674-CAT-C p.Met90fs frameshift AKR1B1 80 82856 9.65531E-4 41428 2 6.6204E-4
7-134135676-T-C p.Met90Val missense AKR1B1 1 82822 1.20741E-5 41411 0 8.68101E-6
7-134135677-G-A p.Asp89Asp synonymous AKR1B1 1 82826 1.20735E-5 41413 0 NA
7-134135684-T-C p.Asn87Ser missense AKR1B1 17 82678 2.05617E-4 41339 0 2.86588E-4
7-134135695-A-G p.Leu83Leu synonymous AKR1B1 1 82266 1.21557E-5 41133 0 NA
7-134135704-T-G p.Gly80Gly synonymous AKR1B1 5 81838 6.10963E-5 40919 0 2.22958E-4
7-134135715-AAGAC-A c.235-10_235-7delGTCT splice_region AKR1B1 1 80916 1.23585E-5 40458 0 9.55901E-5
7-134136333-G-A c.234+5C>T splice_region AKR1B1 1 83122 1.20305E-5 41561 0 NA
7-134136335-T-C c.234+3A>G splice_region AKR1B1 2 83142 2.40552E-5 41571 0 1.19307E-5
7-134136335-T-A c.234+3A>T splice_region AKR1B1 1 83142 1.20276E-5 41571 0 NA
7-134136346-C-T p.Val76Ile missense AKR1B1 4 83204 4.80746E-5 41602 0 4.11936E-5
7-134136347-G-A p.Ile75Ile synonymous AKR1B1 15 83198 1.80293E-4 41599 0 5.03525E-4
7-134136353-G-A p.Leu73Leu synonymous AKR1B1 2 83224 2.40315E-5 41612 0 3.97652E-6
7-134136355-G-A p.Leu73Phe missense AKR1B1 1 83226 1.20155E-5 41613 0 NA
7-134136357-T-G p.Glu72Ala missense AKR1B1 1 83250 1.2012E-5 41625 0 8.23832E-6
7-134136357-T-C p.Glu72Gly missense AKR1B1 1 83250 1.2012E-5 41625 0 3.18959E-5
7-134136363-C-T p.Arg70His missense AKR1B1 4 83254 4.80457E-5 41627 0 3.18552E-5
7-134136364-G-A p.Arg70Cys missense AKR1B1 3 83248 3.60369E-5 41624 0 2.78363E-5
7-134136365-C-G p.Lys69Asn missense AKR1B1 2 83256 2.40223E-5 41628 0 2.47129E-5
7-134136365-C-T p.Lys69Lys synonymous AKR1B1 2 83256 2.40223E-5 41628 0 NA
7-134136366-T-C p.Lys69Arg missense AKR1B1 2 83256 2.40223E-5 41628 0 7.95286E-6
7-134136374-C-T p.Gln66Gln synonymous AKR1B1 1 83288 1.20065E-5 41644 0 6.68875E-4
7-134136381-C-T p.Arg64Lys missense AKR1B1 1 83288 1.20065E-5 41644 0 NA
7-134136386-C-G p.Lys62Asn missense AKR1B1 1 83288 1.20065E-5 41644 0 NA
7-134136393-T-G p.Gln60Pro missense AKR1B1 1 83292 1.2006E-5 41646 0 NA
7-134136404-C-G p.Gly56Gly synonymous AKR1B1 1 83274 1.20085E-5 41637 0 NA
7-134136405-C-G p.Gly56Ala missense AKR1B1 1 83290 1.20062E-5 41645 0 8.23764E-6
7-134136428-C-T p.Val48Val synonymous AKR1B1 1 83310 1.20034E-5 41655 0 3.97652E-5
7-134136439-A-G p.Cys45Arg missense AKR1B1 1 83302 1.20045E-5 41651 0 NA
7-134136445-T-C p.Ile43Val missense AKR1B1 2 83294 2.40113E-5 41647 0 NA
7-134136451-G-A p.Arg41Cys missense AKR1B1 4 83258 4.80434E-5 41629 0 5.03525E-4
7-134136457-C-T p.Gly39Arg missense AKR1B1 7 83254 8.408E-5 41627 0 6.76235E-5
7-134136458-G-A p.Val38Val synonymous AKR1B1 5 83222 6.00803E-5 41611 0 5.03525E-4
7-134136461-G-A p.Asp37Asp synonymous AKR1B1 5 83216 6.00846E-5 41608 0 5.03525E-4
7-134136467-G-A p.Ala35Ala synonymous AKR1B1 1 83226 1.20155E-5 41613 0 NA
7-134136478-C-T p.Val32Met missense AKR1B1 5 83216 6.00846E-5 41608 0 3.97867E-5
7-134136479-G-T p.Ala31Ala synonymous AKR1B1 1 83196 1.20198E-5 41598 0 8.3185E-6
7-134136486-G-A p.Thr29Ile missense AKR1B1 12 83188 1.44252E-4 41594 0 5.57063E-5
7-134136492-T-C p.Gln27Arg missense AKR1B1 1 83182 1.20218E-5 41591 0 6.36983E-5
7-134136493-G-A p.Gln27* stop_gained AKR1B1 1 83152 1.20262E-5 41576 0 NA
7-134136495-C-T p.Gly26Glu missense AKR1B1 1 83144 1.20273E-5 41572 0 3.98051E-6
7-134136499-G-T p.Pro25Thr missense AKR1B1 1 83110 1.20322E-5 41555 0 NA
7-134136501-G-A p.Pro24Leu missense AKR1B1 1 83102 1.20334E-5 41551 0 9.55597E-5
7-134136507-T-TTCCAGGTACCCAACCCCAGGATGGGCATCTTGGCGCCGTTGTTGAGCAG c.67-3_67-2insCTGCTCAACAACGGCGCCAAGATGCCCATCCTGGGGTTGGGTACCTGGA splice_region AKR1B1 2 83048 2.40825E-5 41524 1 NA
7-134136507-T-C c.67-2A>G splice_acceptor AKR1B1 1 83048 1.20412E-5 41524 0 NA
7-134143744-C-T c.66+5G>A splice_region AKR1B1 1 78816 1.26878E-5 39408 0 NA
7-134143746-T-C c.66+3A>G splice_region AKR1B1 1 78814 1.26881E-5 39407 0 NA
7-134143757-T-C p.Thr20Ala missense AKR1B1 5 78918 6.33569E-5 39459 0 1.40111E-5
7-134143758-A-T p.Gly19Gly synonymous AKR1B1 1 78998 1.26585E-5 39499 0 1.39696E-5
7-134143766-C-T p.Gly17Arg missense AKR1B1 2 79202 2.52519E-5 39601 0 NA
7-134143778-T-C p.Met13Val missense AKR1B1 1 79366 1.25999E-5 39683 0 NA
7-134143781-T-C p.Lys12Glu missense AKR1B1 2 79374 2.51972E-5 39687 0 1.36429E-5
7-134143785-GC-AT p.Gly10Asp missense AKR1B1 1 79422 1.2591E-5 39711 0 NA
7-134143789-T-C p.Asn9Ser missense AKR1B1 8 79530 1.00591E-4 39765 0 5.53541E-5
7-134143794-G-C p.Leu7Leu synonymous AKR1B1 1 79618 1.256E-5 39809 0 NA
7-134143799-G-A p.Leu6Leu synonymous AKR1B1 7 79840 8.76753E-5 39920 0 9.56877E-5
7-134143805-G-A p.Arg4Cys missense AKR1B1 2 79850 2.5047E-5 39925 0 4.37136E-6
7-134143806-G-A p.Ser3Ser synonymous AKR1B1 3 79858 3.75667E-5 39929 0 1.52142E-5
7-134143812-C-T p.Met1? start_lost AKR1B1 1 79902 1.25153E-5 39951 0 NA
7-134143813-A-G p.Met1? start_lost AKR1B1 3 79914 3.75404E-5 39957 0 1.55386E-5
7-134143814-T-C p.Met1? start_lost AKR1B1 2 79904 2.503E-5 39952 0 9.36271E-5
7-134143838-C-A c.-24G>T 5_prime_UTR_premature_start_codon_gain AKR1B1 4 79688 5.01958E-5 39844 0 7.04002E-5
7-134143844-G-A c.-30C>T 5_prime_UTR_premature_start_codon_gain AKR1B1 2 79538 2.51452E-5 39769 0 1.84243E-5
7-134143848-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain AKR1B1 1 79458 1.25853E-5 39729 0 NA
7-134143853-G-A c.-39C>T 5_prime_UTR_premature_start_codon_gain AKR1B1 1 79356 1.26014E-5 39678 0 3.18756E-5
7-134143867-C-CG n.163+6dupC splice_region AKR1B1 1 78796 1.2691E-5 39398 0 NA
7-134143870-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain AKR1B1 1 78718 1.27036E-5 39359 0 3.18654E-5
7-134143873-C-A n.163+1G>T splice_donor AKR1B1 1 78630 1.27178E-5 39315 0 NA
7-134143887-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain AKR1B1 3 77372 3.87737E-5 38686 0 3.18654E-5