Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-89165031-T-A n.417+3T>A splice_region AEN 2 2 1.0 1 1 0.613124
15-89169370-T-A c.-64-7T>A splice_region AEN 2 77756 2.57215E-5 38878 0 NA
15-89169389-T-C c.-52T>C 5_prime_UTR_premature_start_codon_gain AEN 3 79604 3.76866E-5 39802 0 6.25E-4
15-89169415-T-A c.-26T>A 5_prime_UTR_premature_start_codon_gain AEN 2 81026 2.46834E-5 40513 0 3.18512E-5
15-89169450-C-T p.Arg4Trp missense AEN 3 81684 3.67269E-5 40842 0 9.55475E-5
15-89169451-G-A p.Arg4Gln missense AEN 54 81662 6.61262E-4 40831 1 0.00175182
15-89169456-G-A p.Ala6Thr missense AEN 1 81690 1.22414E-5 40845 0 3.18573E-5
15-89169471-C-T p.Gln11* stop_gained AEN 3 81908 3.66265E-5 40954 0 2.03193E-5
15-89169479-G-C p.Leu13Leu synonymous AEN 5 81904 6.10471E-5 40952 0 2.42389E-5
15-89169482-C-A p.Cys14* stop_gained AEN 1 81844 1.22184E-5 40922 0 4.43711E-5
15-89169482-C-CCCTT p.Leu17fs frameshift AEN 1 81844 1.22184E-5 40922 0 8.87422E-6
15-89169484-C-T p.Pro15Leu missense AEN 5054 81792 0.0617909 40896 167 0.1025
15-89169489-C-T p.Leu17Phe missense AEN 1 81948 1.22029E-5 40974 0 3.1841E-5
15-89169506-C-T p.Ala22Ala synonymous AEN 1 82058 1.21865E-5 41029 0 8.81255E-5
15-89169519-C-T p.Arg27Trp missense AEN 3 82106 3.65381E-5 41053 0 8.60852E-6
15-89169520-G-A p.Arg27Gln missense AEN 12 82130 1.4611E-4 41065 0 1.27348E-4
15-89169530-C-T p.His30His synonymous AEN 3 82208 3.64928E-5 41104 0 8.6063E-6
15-89169543-C-T p.Arg35* stop_gained AEN 3 82340 3.64343E-5 41170 0 4.80931E-5
15-89169543-C-G p.Arg35Gly missense AEN 1 82340 1.21448E-5 41170 0 8.6195E-6
15-89169544-G-C p.Arg35Pro missense AEN 1 82370 1.21403E-5 41185 0 4.0076E-6
15-89169544-G-T p.Arg35Leu missense AEN 1 82370 1.21403E-5 41185 0 4.31012E-5
15-89169551-C-T p.His37His synonymous AEN 2 82428 2.42636E-5 41214 0 NA
15-89169555-C-T p.Arg39Trp missense AEN 1 82408 1.21347E-5 41204 0 3.60831E-5
15-89169556-G-A p.Arg39Gln missense AEN 4 82432 4.85248E-5 41216 0 1.59205E-4
15-89169567-C-T p.Arg43Trp missense AEN 5 82422 6.06634E-5 41211 0 3.18532E-5
15-89169575-C-G p.Ala45Ala synonymous AEN 1 82410 1.21345E-5 41205 0 8.70337E-6
15-89169576-T-A p.Leu46Met missense AEN 1 82416 1.21336E-5 41208 0 8.70337E-6
15-89169578-G-GCAGGAGCCC p.Leu46_Leu47insGlnGluPro disruptive_inframe_insertion AEN 1 82370 1.21403E-5 41185 0 8.71171E-6
15-89169584-G-A p.Gln48Gln synonymous AEN 9 82362 1.09274E-4 41181 0 1.91046E-4
15-89169586-A-G p.Glu49Gly missense AEN 2 82346 2.42878E-5 41173 0 4.03122E-6
15-89169592-G-C p.Gly51Ala missense AEN 4 82340 4.85791E-5 41170 0 0.00100806
15-89169598-T-C p.Leu53Pro missense AEN 1 82320 1.21477E-5 41160 0 NA
15-89169614-A-G p.Glu58Glu synonymous AEN 24335 81966 0.296891 40983 3838 0.296875
15-89169620-G-A p.Gly60Gly synonymous AEN 1 82328 1.21465E-5 41164 0 1.77465E-5
15-89169645-G-A p.Gly69Arg missense AEN 5 82374 6.06988E-5 41187 0 8.05139E-5
15-89169650-A-G p.Ala70Ala synonymous AEN 19 82426 2.3051E-4 41213 0 5.41505E-4
15-89169652-C-T p.Ala71Val missense AEN 5 82454 6.06399E-5 41227 0 4.47158E-5
15-89169653-G-A p.Ala71Ala synonymous AEN 3452 82428 0.041879 41214 80 0.0765358
15-89169664-A-T p.Glu75Val missense AEN 3 82664 3.62915E-5 41332 0 3.18715E-5
15-89169665-A-T p.Glu75Asp missense AEN 1 82672 1.2096E-5 41336 0 4.0247E-6
15-89169673-G-T p.Ser78Ile missense AEN 1 82688 1.20937E-5 41344 0 NA
15-89169674-C-T p.Ser78Ser synonymous AEN 1 82692 1.20931E-5 41346 0 NA
15-89169675-A-G p.Ser79Gly missense AEN 1 82718 1.20893E-5 41359 0 1.73295E-5
15-89169703-C-G p.Ser88Cys missense AEN 6288 82702 0.076032 41351 290 0.0997984
15-89169703-CTG-GTA p.SerGly88CysSer missense AEN 2 82846 2.41412E-5 41423 0 NA
15-89169703-C-T p.Ser88Phe missense AEN 1 82846 1.20706E-5 41423 0 NA
15-89169705-G-A p.Gly89Ser missense AEN 136 82874 0.00164105 41437 0 0.0012108
15-89169709-G-T p.Ser90Ile missense AEN 1 82894 1.20636E-5 41447 0 8.38659E-6
15-89169721-G-A p.Ser94Asn missense AEN 5 82952 6.02758E-5 41476 0 2.15069E-4
15-89169729-C-T p.Pro97Ser missense AEN 1 82968 1.20528E-5 41484 0 NA
15-89169734-T-C p.Ala98Ala synonymous AEN 1 82986 1.20502E-5 41493 0 8.30289E-6
15-89169738-G-A p.Gly100Arg missense AEN 204 83002 0.00245777 41501 0 0.00286569
15-89169738-G-T p.Gly100Trp missense AEN 1 83008 1.2047E-5 41504 0 3.1841E-5
15-89169745-C-T p.Ala102Val missense AEN 1 83036 1.2043E-5 41518 0 NA
15-89169769-G-A p.Cys110Tyr missense AEN 21 83112 2.52671E-4 41556 0 5.73066E-4
15-89169772-T-C p.Val111Ala missense AEN 2 83114 2.40633E-5 41557 0 9.91309E-5
15-89169779-C-T p.Ile113Ile synonymous AEN 1 83120 1.20308E-5 41560 0 3.1839E-5
15-89169799-C-T p.Thr120Met missense AEN 1 83088 1.20354E-5 41544 0 8.25573E-6
15-89169800-G-A p.Thr120Thr synonymous AEN 3 83064 3.61167E-5 41532 0 6.25E-4
15-89169803-A-G p.Gly121Gly synonymous AEN 1 83030 1.20438E-5 41515 0 8.25505E-6
15-89169804-C-T p.Pro122Ser missense AEN 3 83024 3.61341E-5 41512 0 6.36902E-5
15-89169805-C-G p.Pro122Arg missense AEN 1 83038 1.20427E-5 41519 0 NA
15-89169805-C-T p.Pro122Leu missense AEN 1 83038 1.20427E-5 41519 0 3.98276E-6
15-89169806-C-T p.Pro122Pro synonymous AEN 2 83040 2.40848E-5 41520 0 5.03525E-4
15-89169807-C-T p.Arg123* stop_gained AEN 3 83032 3.61306E-5 41516 0 1.65063E-5
15-89169809-A-C p.Arg123Arg synonymous AEN 1 83006 1.20473E-5 41503 0 3.18451E-5
15-89169813-C-T p.Arg125Trp missense AEN 3 82966 3.61594E-5 41483 0 6.37024E-5
15-89169815-G-T p.Arg125Arg synonymous AEN 1 83002 1.20479E-5 41501 0 3.98425E-6
15-89169822-G-A p.Glu128Lys missense AEN 3 82926 3.61768E-5 41463 0 6.6012E-5
15-89169829-C-T p.Ala130Val missense AEN 4 82822 4.82963E-5 41411 0 8.25069E-6
15-89169831-C-T p.Arg131Cys missense AEN 3 82790 3.62363E-5 41395 0 1.0771E-4
15-89169832-G-A p.Arg131His missense AEN 1 82768 1.2082E-5 41384 0 9.55414E-5
15-89169839-C-T p.Ser133Ser synonymous AEN 1 82742 1.20858E-5 41371 0 4.12507E-5
15-89169858-A-G p.Asn140Asp missense AEN 69598 80200 0.867805 40100 30733 0.891742
15-89169868-A-G p.Tyr143Cys missense AEN 1 82146 1.21734E-5 41073 0 NA
15-89169879-A-C p.Ile147Leu missense AEN 6 81820 7.33317E-5 40910 0 1.12335E-4
15-89169881-C-T p.Ile147Ile synonymous AEN 131 81772 0.00160202 40886 0 0.00398064
15-89169891-A-T p.Met151Leu missense AEN 16 81628 1.96011E-4 40814 0 6.25E-4
15-89169897-A-G p.Ile153Val missense AEN 1 81548 1.22627E-5 40774 0 8.03413E-6
15-89169900-G-A p.Ala154Thr missense AEN 4 81390 4.91461E-5 40695 0 7.23641E-5
15-89169909-C-T p.Arg157Cys missense AEN 5 81300 6.15006E-5 40650 0 1.57778E-4
15-89169914-C-G p.Thr158Thr synonymous AEN 3 81222 3.69358E-5 40611 0 9.55353E-5
15-89169916-G-A p.Arg159His missense AEN 1 81188 1.23171E-5 40594 0 3.32557E-5
15-89169929-C-A p.Ile163Ile synonymous AEN 1 80998 1.2346E-5 40499 0 NA
15-89169933-C-T p.Arg165Trp missense AEN 1 80850 1.23686E-5 40425 0 NA
15-89169934-G-A p.Arg165Gln missense AEN 82 80798 0.00101488 40399 4 0.00503502
15-89169945-C-A p.Arg169Ser missense AEN 1 80604 1.24063E-5 40302 0 NA
15-89169946-G-A p.Arg169His missense AEN 2 80542 2.48318E-5 40271 0 3.38816E-5
15-89169954-G-C p.Val172Leu missense AEN 1309 80210 0.0163197 40105 21 0.0375
15-89169956-C-T p.Val172Val synonymous AEN 4 80152 4.99052E-5 40076 0 3.18492E-5
15-89169956-CCCCTT-C p.Phe174fs frameshift AEN 1 80154 1.2476E-5 40077 0 NA
15-89169963-C-T p.Gln175* stop_gained AEN 1 79962 1.25059E-5 39981 0 NA
15-89172449-G-A c.541-8G>A splice_region AEN 2 82762 2.41657E-5 41381 0 NA
15-89172451-TCA-T c.541-3_541-2delCA splice_acceptor AEN 1 82822 1.20741E-5 41411 0 1.19499E-5
15-89172451-T-C c.541-6T>C splice_region AEN 2 82822 2.41482E-5 41411 0 1.6605E-4
15-89172452-C-G c.541-5C>G splice_region AEN 2 82846 2.41412E-5 41423 0 NA
15-89172454-C-T c.541-3C>T splice_region AEN 1 82884 1.20651E-5 41442 0 1.19494E-5
15-89172456-G-C c.541-1G>C splice_acceptor AEN 1 82936 1.20575E-5 41468 0 NA
15-89172465-G-A p.Lys183Lys synonymous AEN 2 83076 2.40743E-5 41538 0 3.18776E-5
15-89172474-G-A p.Lys186Lys synonymous AEN 1 83150 1.20265E-5 41575 0 NA
15-89172488-T-G p.Val191Gly missense AEN 1 83212 1.20175E-5 41606 0 3.9781E-6
15-89172491-G-A p.Gly192Glu missense AEN 1 83226 1.20155E-5 41613 0 NA
15-89172492-G-A p.Gly192Gly synonymous AEN 3 83222 3.60482E-5 41611 0 7.95551E-6
15-89172495-C-T p.His193His synonymous AEN 3 83238 3.60412E-5 41619 0 5.17104E-5
15-89172496-G-A p.Ala194Thr missense AEN 1 83236 1.2014E-5 41618 0 3.19081E-5
15-89172498-G-A p.Ala194Ala synonymous AEN 1 83248 1.20123E-5 41624 0 3.30306E-5
15-89172499-C-G p.Leu195Val missense AEN 2 83256 2.40223E-5 41628 0 NA
15-89172502-CACA-C p.Asn197del conservative_inframe_deletion AEN 1 83272 1.20088E-5 41636 0 NA
15-89172502-C-T p.His196Tyr missense AEN 1 83272 1.20088E-5 41636 0 NA
15-89172507-C-T p.Asn197Asn synonymous AEN 7 83290 8.40437E-5 41645 0 1.15546E-4
15-89172510-C-A p.Asp198Glu missense AEN 1 83300 1.20048E-5 41650 0 NA
15-89172517-G-A p.Ala201Thr missense AEN 1 83284 1.20071E-5 41642 0 3.97706E-6
15-89172518-C-T p.Ala201Val missense AEN 4 83288 4.80261E-5 41644 0 6.25E-4
15-89172519-G-A p.Ala201Ala synonymous AEN 24 83288 2.88157E-4 41644 0 3.82726E-4
15-89172531-C-T p.Val205Val synonymous AEN 1 83292 1.2006E-5 41646 0 3.18939E-5
15-89172536-C-G p.Pro207Arg missense AEN 1 83286 1.20068E-5 41643 0 1.64967E-5
15-89172537-T-G p.Pro207Pro synonymous AEN 1 83280 1.20077E-5 41640 0 NA
15-89172538-C-T p.Arg208Trp missense AEN 4 83290 4.8025E-5 41645 0 1.64965E-5
15-89172538-C-G p.Arg208Gly missense AEN 1 83290 1.20062E-5 41645 0 3.97731E-5
15-89172539-G-A p.Arg208Gln missense AEN 3 83286 3.60205E-5 41643 0 2.38633E-5
15-89172550-C-G p.Arg212Gly missense AEN 3 83286 3.60205E-5 41643 0 8.24688E-6
15-89172551-G-A p.Arg212Gln missense AEN 3 83288 3.60196E-5 41644 0 1.64946E-5
15-89172556-A-C p.Thr214Pro missense AEN 2 83280 2.40154E-5 41640 0 8.24674E-6
15-89172558-G-C p.Thr214Thr synonymous AEN 71653 83118 0.862064 41559 31424 0.88004
15-89172564-T-G p.Tyr216* stop_gained AEN 4 83282 4.80296E-5 41641 0 1.59096E-5
15-89172564-T-C p.Tyr216Tyr synonymous AEN 2 83282 2.40148E-5 41641 0 0.00125
15-89172570-A-C p.Pro218Pro synonymous AEN 1 83274 1.20085E-5 41637 0 3.97738E-6
15-89172577-C-T p.Leu221Phe missense AEN 1 83268 1.20094E-5 41634 0 3.97788E-6
15-89172581-G-GCGAGCCCGGCCTCCACACC p.Val232fs frameshift AEN 2 83252 2.40234E-5 41626 0 3.1904E-5
15-89172582-C-T p.Ser222Ser synonymous AEN 3 83238 3.60412E-5 41619 0 2.38717E-5
15-89172583-G-A p.Glu223Lys missense AEN 1 83244 1.20129E-5 41622 0 3.58049E-5
15-89172589-G-C p.Gly225Arg missense AEN 4 83216 4.80677E-5 41608 0 9.08896E-5
15-89172589-G-A p.Gly225Ser missense AEN 2 83216 2.40338E-5 41608 0 3.30508E-5
15-89172592-C-G p.Leu226Val missense AEN 2 83216 2.40338E-5 41608 0 7.96147E-6
15-89172598-A-T p.Thr228Ser missense AEN 1 83168 1.20239E-5 41584 0 0.00100908
15-89172601-C-T p.Arg229Trp missense AEN 3 83148 3.60802E-5 41574 0 6.25E-4
15-89172602-G-A p.Arg229Gln missense AEN 11 83122 1.32336E-4 41561 0 0.0025
15-89172607-C-T p.Arg231Trp missense AEN 2 83108 2.40651E-5 41554 0 7.96572E-6
15-89172608-G-A p.Arg231Gln missense AEN 4 83098 4.81359E-5 41549 0 2.48682E-5
15-89172619-A-G p.Lys235Glu missense AEN 1 83042 1.20421E-5 41521 0 2.38933E-5
15-89172620-A-G p.Lys235Arg missense AEN 1 83038 1.20427E-5 41519 0 6.38529E-5
15-89172630-C-T p.Ala238Ala synonymous AEN 151 82858 0.00182239 41429 0 0.00350922
15-89172632-T-C p.Leu239Pro missense AEN 4 82836 4.82882E-5 41418 0 9.56694E-5
15-89172633-G-A p.Leu239Leu synonymous AEN 16 82798 1.93241E-4 41399 0 1.1167E-4
15-89172639-G-A p.Leu241Leu synonymous AEN 1 82664 1.20972E-5 41332 0 4.16417E-5
15-89172647-A-G p.Lys244Arg missense AEN 8 82454 9.70238E-5 41227 0 1.91473E-4
15-89172661-C-T c.741+4C>T splice_region AEN 10 81766 1.223E-4 40883 0 5.04219E-5
15-89172662-G-A c.741+5G>A splice_region AEN 14 81746 1.71262E-4 40873 0 4.14647E-4
15-89173281-G-A c.742-8G>A splice_region AEN 1 82072 1.21844E-5 41036 0 2.8024E-5
15-89173290-TGG-AGT p.ValGly248GluCys missense+splice_region AEN 2 82202 2.43303E-5 41101 0 NA
15-89173292-G-A p.Gly249Ser missense AEN 81 82242 9.84898E-4 41121 2 0.00498471
15-89173295-C-CGTGAGT p.Gln250delinsArgGluTer stop_gained AEN 2 82304 2.43002E-5 41152 0 1.66063E-5
15-89173299-AC-A p.His251fs frameshift AEN 1 82370 1.21403E-5 41185 0 4.97744E-5
15-89173300-C-T p.His251His synonymous AEN 3 82398 3.64087E-5 41199 0 9.55901E-5
15-89173308-C-A p.Ser254* stop_gained AEN 18 82666 2.17744E-4 41333 0 1.15609E-4
15-89173327-G-A p.Thr260Thr synonymous AEN 4 82860 4.82742E-5 41430 0 3.18608E-5
15-89173342-C-T p.Leu265Leu synonymous AEN 3 82942 3.61699E-5 41471 0 3.18613E-5
15-89173345-C-T p.Tyr266Tyr synonymous AEN 27 82932 3.25568E-4 41466 0 1.63339E-4
15-89173346-C-T p.Arg267Trp missense AEN 2 82944 2.41127E-5 41472 0 6.37349E-5
15-89173356-A-G p.Glu270Gly missense AEN 10 82346 1.21439E-4 41173 0 0.0100436
15-89173359-T-G p.Val271Gly missense AEN 1 82350 1.21433E-5 41175 0 0.0131048
15-89173373-C-G p.Gln276Glu missense AEN 1 82608 1.21054E-5 41304 0 3.18817E-5
15-89173377-AG-A p.Ala278fs frameshift AEN 1 82646 1.20998E-5 41323 0 NA
15-89173382-C-T p.Arg279Cys missense AEN 9 82690 1.0884E-4 41345 0 5.04032E-4
15-89173383-G-A p.Arg279His missense AEN 3 82600 3.63196E-5 41300 0 4.01184E-6
15-89173386-G-C p.Ser280Thr missense AEN 17 82726 2.05498E-4 41363 0 5.03525E-4
15-89173389-T-C p.Leu281Pro missense AEN 1 82790 1.20788E-5 41395 0 NA
15-89173393-G-A p.Trp282* stop_gained AEN 1 82808 1.20761E-5 41404 0 NA
15-89173398-G-A p.Cys284Tyr missense AEN 629 82812 0.00759552 41406 6 0.02375
15-89173400-C-T p.Pro285Ser missense AEN 2 82848 2.41406E-5 41424 0 9.11893E-6
15-89173402-C-T p.Pro285Pro synonymous AEN 3 82844 3.62126E-5 41422 0 3.18735E-5
15-89173405-G-C p.Glu286Asp missense AEN 1 82870 1.20671E-5 41435 0 9.24676E-6
15-89173408-CAG-C p.Glu289fs frameshift AEN 1 82868 1.20674E-5 41434 0 NA
15-89173419-ACAG-A p.Ser293del disruptive_inframe_deletion AEN 2 82850 2.414E-5 41425 0 3.18654E-5
15-89173424-A-G p.Ser293Gly missense AEN 2 82838 2.41435E-5 41419 0 3.18532E-5
15-89173425-G-C p.Ser293Thr missense AEN 1 82836 1.2072E-5 41418 0 NA
15-89173430-G-A p.Asp295Asn missense AEN 2 82810 2.41517E-5 41405 0 4.06511E-6
15-89173446-TGGA-T p.Glu301del disruptive_inframe_deletion AEN 1 82636 1.21013E-5 41318 0 4.16129E-6
15-89173451-G-T p.Asp302Tyr missense AEN 25 82554 3.02832E-4 41277 0 2.45948E-4
15-89173465-C-G p.Pro306Pro synonymous AEN 1 82324 1.21471E-5 41162 0 2.15025E-4
15-89173465-C-T p.Pro306Pro synonymous AEN 3 82324 3.64414E-5 41162 0 4.8271E-5
15-89173466-G-A p.Asp307Asn missense AEN 4 82312 4.85956E-5 41156 0 8.79825E-6
15-89173468-T-C p.Asp307Asp synonymous AEN 1 82274 1.21545E-5 41137 0 5.05051E-4
15-89173478-C-A p.His311Asn missense AEN 1 82060 1.21862E-5 41030 0 NA
15-89173480-C-T p.His311His synonymous AEN 90 81988 0.00109772 40994 2 0.00928771
15-89173481-G-A p.Gly312Ser missense AEN 1 81984 1.21975E-5 40992 0 5.41594E-5
15-89173488-G-A p.Arg314Lys missense AEN 1 81840 1.2219E-5 40920 0 6.37186E-5
15-89173490-G-A p.Gly315Arg missense AEN 1 81808 1.22237E-5 40904 0 NA
15-89173494-G-A p.Gly316Glu missense AEN 6 81682 7.34556E-5 40841 0 4.33392E-5
15-89173513-C-G p.Asp322Glu missense AEN 1 81066 1.23356E-5 40533 0 NA
15-89173518-G-A p.Arg324Lys missense AEN 1 80940 1.23548E-5 40470 0 NA
15-89173525-A-C p.Ter326Cysext*? stop_lost AEN 1 80632 1.2402E-5 40316 0 NA
15-89173614-G-A p.Gln303Gln splice_region+synonymous AEN 1 77968 1.28258E-5 38984 0 NA
15-89173620-G-A c.909+6G>A splice_region AEN 1 77630 1.28816E-5 38815 0 NA
15-89174339-C-G p.Gln306Glu missense AEN 78 55292 0.00141069 27646 0 0.00315327
15-89174344-C-G p.Tyr307* stop_gained AEN 2 55294 3.61703E-5 27647 0 7.16846E-6
15-89174347-G-C p.Trp308Cys missense AEN 1 55294 1.80851E-5 27647 0 7.16877E-6
15-89174360-A-G p.Lys313Glu missense AEN 225 55294 0.00406916 27647 5 0.00681876
15-89174363-T-C p.Ser314Pro missense AEN 2 55296 3.6169E-5 27648 0 6.36983E-5
15-89174365-T-C p.Ser314Ser synonymous AEN 1 55294 1.80851E-5 27647 0 NA
15-89174368-G-T p.Glu315Asp missense AEN 2 55290 3.61729E-5 27645 0 NA
15-89174372-C-T p.Gln317* stop_gained AEN 4 55290 7.23458E-5 27645 0 7.05517E-5
15-89174382-G-C p.Gly320Ala missense AEN 1 55288 1.80871E-5 27644 0 NA
15-89174397-C-T p.Ala325Val missense AEN 6 55268 1.08562E-4 27634 0 6.25E-4
15-89174406-A-G p.Ter328Trpext*? stop_lost AEN 2 55256 3.61952E-5 27628 0 5.0185E-5
15-89175510-G-A n.5037G>A splice_region AEN 14 3072 0.00455729 1536 0 0.0238353