Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-53497324-C-T c.-38C>T 5_prime_UTR_premature_start_codon_gain SOAT2 1 55040 1.81686E-5 27520 0 3.56359E-5
12-53497356-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain SOAT2 2 55430 3.60815E-5 27715 0 6.48845E-5
12-53497365-G-A p.Glu2Lys missense SOAT2 1 55150 1.81324E-5 27575 0 NA
12-53497373-C-T p.Gly4Gly synonymous SOAT2 2 53890 3.71126E-5 26945 0 5.61506E-5
12-53497374-G-A p.Gly5Arg missense SOAT2 1 53890 1.85563E-5 26945 0 6.37267E-5
12-53497376-G-C p.Gly5Gly synonymous SOAT2 1 53650 1.86393E-5 26825 0 6.64717E-5
12-53497379-C-G p.Ala6Ala synonymous SOAT2 1 53192 1.87998E-5 26596 0 NA
12-53497380-C-T p.Arg7Cys missense SOAT2 109 53036 0.00205521 26518 1 0.00455995
12-53497381-G-A p.Arg7His missense SOAT2 14 52936 2.6447E-4 26468 0 2.86825E-4
12-53497381-G-C p.Arg7Pro missense SOAT2 3 52940 5.66679E-5 26470 1 1.12364E-4
12-53497383-C-A p.Leu8Met missense SOAT2 1 52650 1.89934E-5 26325 0 7.36377E-4
12-53497384-T-C p.Leu8Pro missense SOAT2 1 52482 1.90542E-5 26241 0 NA
12-53497387-G-A p.Arg9His missense SOAT2 1 51880 1.92753E-5 25940 0 6.80828E-5
12-53497390-T-G p.Leu10Arg missense SOAT2 1 51582 1.93866E-5 25791 0 NA
12-53497402-A-G p.Glu14Gly missense SOAT2 4072 49740 0.0818657 24870 201 0.126074
12-53497426-G-A p.Arg22His missense SOAT2 11 46078 2.38726E-4 23039 0 7.17103E-4
12-53497434-T-C p.Cys25Arg missense SOAT2 6 45464 1.31973E-4 22732 0 1.5616E-5
12-53497444-G-A c.82+1G>A splice_donor SOAT2 1 44790 2.23264E-5 22395 0 3.18918E-5
12-53497445-T-A c.82+2T>A splice_donor SOAT2 40 44674 8.95375E-4 22337 0 8.93278E-4
12-53497450-C-T c.82+7C>T splice_region SOAT2 41 44222 9.2714E-4 22111 0 0.00319343
12-53497451-G-A c.82+8G>A splice_region SOAT2 1 44130 2.26603E-5 22065 0 4.3201E-5
12-53497927-C-G c.83-8C>G splice_region SOAT2 7293 82294 0.0886213 41147 374 0.096875
12-53497942-T-C p.Thr30Thr synonymous SOAT2 2 82528 2.42342E-5 41264 0 NA
12-53497947-C-T p.Thr32Met missense SOAT2 1 82526 1.21174E-5 41263 0 6.37267E-5
12-53497953-G-A p.Arg34Lys missense SOAT2 1 82544 1.21148E-5 41272 0 3.18715E-5
12-53497955-G-A p.Ala35Thr missense SOAT2 2 82542 2.42301E-5 41271 0 8.23683E-6
12-53497959-C-T p.Pro36Leu missense SOAT2 2 82552 2.42272E-5 41276 0 5.03525E-4
12-53497960-G-A p.Pro36Pro synonymous SOAT2 5 82562 6.05605E-5 41281 0 5.03525E-4
12-53497979-C-T p.Arg43* stop_gained SOAT2 1 82604 1.2106E-5 41302 0 1.59056E-5
12-53497980-G-T p.Arg43Leu missense SOAT2 1 82618 1.21039E-5 41309 0 NA
12-53497985-A-T p.Met45Leu missense SOAT2 1 82590 1.2108E-5 41295 0 3.97627E-6
12-53497987-G-A p.Met45Ile missense SOAT2 1 82596 1.21071E-5 41298 0 NA
12-53497989-A-C p.Glu46Ala missense+splice_region SOAT2 17 82602 2.05806E-4 41301 0 0.004375
12-53497992-T-TGA c.138+2_138+3insGA splice_region SOAT2 11 82548 1.33256E-4 41274 0 3.2E-4
12-53497996-G-T c.138+6G>T splice_region SOAT2 1 82550 1.21139E-5 41275 0 2.78352E-5
12-53498886-C-T c.139-5C>T splice_region SOAT2 3 81974 3.6597E-5 40987 0 NA
12-53498887-G-A c.139-4G>A splice_region SOAT2 3 81986 3.65916E-5 40993 0 8.68294E-4
12-53498899-G-A p.Lys49Lys synonymous SOAT2 2 82040 2.43784E-5 41020 0 NA
12-53498908-G-T p.Leu52Phe missense SOAT2 1 82020 1.21921E-5 41010 0 NA
12-53498919-C-T p.Ala56Val missense SOAT2 5 82018 6.09622E-5 41009 0 8.15461E-5
12-53498920-G-A p.Ala56Ala synonymous SOAT2 1 82010 1.21936E-5 41005 0 5.60042E-6
12-53498926-A-C p.Gly58Gly synonymous SOAT2 2 82016 2.43855E-5 41008 0 NA
12-53498935-G-T p.Arg61Ser missense SOAT2 1 82050 1.21877E-5 41025 0 NA
12-53498949-G-A p.Arg66Gln missense SOAT2 4 82048 4.8752E-5 41024 0 1.60627E-4
12-53498951-G-A p.Ala67Thr missense SOAT2 1 82070 1.21847E-5 41035 0 0.00454545
12-53498953-C-T p.Ala67Ala synonymous SOAT2 32 82100 3.89769E-4 41050 2 0.0010101
12-53498957-C-T p.Arg69Trp missense SOAT2 1 82148 1.21732E-5 41074 0 5.6443E-5
12-53498962-G-C p.Glu70Asp missense SOAT2 6 82194 7.2998E-5 41097 0 1.53319E-4
12-53498964-C-A p.Ala71Asp missense SOAT2 1 82194 1.21663E-5 41097 0 NA
12-53498979-C-G p.Pro76Arg missense SOAT2 1 82334 1.21457E-5 41167 0 4.36464E-6
12-53498981-T-C p.Ser77Pro missense SOAT2 1 82320 1.21477E-5 41160 0 NA
12-53498987-G-A p.Asp79Asn missense SOAT2 1 82330 1.21462E-5 41165 0 NA
12-53499006-C-T p.Pro85Leu missense SOAT2 1 82356 1.21424E-5 41178 0 4.27855E-6
12-53499008-C-G p.Pro86Ala missense SOAT2 1 82410 1.21345E-5 41205 0 NA
12-53499010-C-T p.Pro86Pro synonymous SOAT2 2 82414 2.42677E-5 41207 0 3.19142E-5
12-53499028-G-T c.275+1G>T splice_donor SOAT2 1 82394 1.21368E-5 41197 0 1.71081E-5
12-53499337-CA-C c.276-7delA splice_region SOAT2 4 82862 4.8273E-5 41431 0 4.06283E-6
12-53499339-A-G c.276-6A>G splice_region SOAT2 1 82876 1.20662E-5 41438 0 3.50698E-4
12-53499345-G-A p.Arg92Arg splice_region+synonymous SOAT2 1 82922 1.20595E-5 41461 0 1.02575E-5
12-53499348-C-G p.Thr93Thr synonymous SOAT2 1 82942 1.20566E-5 41471 0 5.09911E-4
12-53499350-A-G p.Gln94Arg missense SOAT2 30 82960 3.6162E-4 41480 0 1.97806E-4
12-53499350-A-T p.Gln94Leu missense SOAT2 6 82962 7.23223E-5 41481 0 2.02914E-5
12-53499351-G-T p.Gln94His missense SOAT2 1 82984 1.20505E-5 41492 0 1.61473E-5
12-53499351-G-A p.Gln94Gln synonymous SOAT2 1 82984 1.20505E-5 41492 0 NA
12-53499388-C-T p.Arg107Cys missense SOAT2 4 82996 4.81951E-5 41498 0 0.00162462
12-53499389-G-A p.Arg107His missense SOAT2 2 82988 2.40999E-5 41494 0 3.18613E-5
12-53499390-C-A p.Arg107Arg synonymous SOAT2 1 82982 1.20508E-5 41491 0 NA
12-53499412-G-A c.335+8G>A splice_region SOAT2 2 82792 2.41569E-5 41396 0 3.72733E-5
12-53499693-A-G p.Glu113Gly missense+splice_region SOAT2 1 82896 1.20633E-5 41448 0 NA
12-53499701-G-A p.Glu116Lys missense SOAT2 26 82972 3.13359E-4 41486 0 6.25E-4
12-53499716-C-T p.Arg121Cys missense SOAT2 2 83014 2.40923E-5 41507 0 1.64853E-5
12-53499717-G-A p.Arg121His missense SOAT2 5 83022 6.0225E-5 41511 0 9.54722E-5
12-53499719-A-G p.Thr122Ala missense SOAT2 5 83038 6.02134E-5 41519 0 NA
12-53499740-G-A p.Ala129Thr missense SOAT2 1 83068 1.20383E-5 41534 0 3.97779E-6
12-53499741-C-A p.Ala129Asp missense SOAT2 3 83082 3.61089E-5 41541 0 2.38648E-5
12-53499748-G-A p.Leu131Leu synonymous SOAT2 1 83066 1.20386E-5 41533 0 NA
12-53499750-G-A p.Cys132Tyr missense SOAT2 25 83050 3.01023E-4 41525 0 8.60475E-4
12-53499778-C-T p.Ile141Ile synonymous SOAT2 3 82842 3.62135E-5 41421 0 3.97921E-6
12-53499783-T-A p.Phe143Tyr missense SOAT2 4 82790 4.8315E-5 41395 0 2.48748E-5
12-53499786-T-C p.Ile144Thr missense SOAT2 2 82746 2.41704E-5 41373 0 3.9795E-6
12-53509170-C-T c.444-4C>T splice_region SOAT2 1 81608 1.22537E-5 40804 0 NA
12-53509181-C-G p.Leu151Val missense SOAT2 3 81550 3.67872E-5 40775 0 NA
12-53509184-G-A p.Glu152Lys missense SOAT2 4 81576 4.9034E-5 40788 0 3.68068E-5
12-53509199-ATCT-A p.Phe158del conservative_inframe_deletion SOAT2 4 81838 4.8877E-5 40919 0 NA
12-53509205-A-G p.Ser159Gly missense SOAT2 2 81886 2.44242E-5 40943 0 NA
12-53509210-C-G p.Phe160Leu missense SOAT2 1 81932 1.22052E-5 40966 0 NA
12-53509211-G-A p.Gly161Arg missense SOAT2 9 81974 1.09791E-4 40987 0 1.27389E-4
12-53509223-T-C p.Leu165Leu synonymous SOAT2 5 82320 6.07386E-5 41160 0 0.00125
12-53509226-G-C p.Ala166Pro missense SOAT2 1 82332 1.21459E-5 41166 0 0.00100705
12-53509235-ACCTGGGTGC-A p.Trp170_Pro172del conservative_inframe_deletion SOAT2 2 82320 2.42954E-5 41160 0 NA
12-53509255-G-A p.Leu175Leu synonymous SOAT2 3 82472 3.6376E-5 41236 0 2.40979E-5
12-53509259-A-C p.Thr177Pro missense SOAT2 1 82450 1.21286E-5 41225 0 4.02259E-6
12-53509273-G-A p.Pro181Pro synonymous SOAT2 10 82314 1.21486E-4 41157 0 9.55536E-5
12-53509276-C-G p.Tyr182* stop_gained SOAT2 33 82292 4.01011E-4 41146 0 4.77737E-4
12-53509277-C-T p.Gln183* stop_gained SOAT2 1 82290 1.21521E-5 41145 0 3.18552E-5
12-53509288-G-A p.Arg186Arg synonymous SOAT2 1 82036 1.21898E-5 41018 0 NA
12-53509296-C-T p.Ala189Val missense SOAT2 1 81798 1.22252E-5 40899 0 3.18532E-5
12-53509298-AG-A p.Gly191fs frameshift SOAT2 8 81750 9.78593E-5 40875 0 3.10086E-4
12-53509299-G-C p.Arg170Thr missense+splice_region SOAT2 1 81772 1.22291E-5 40886 0 1.78221E-5
12-53509307-T-C p.Trp193Arg missense SOAT2 1 81644 1.22483E-5 40822 0 9.18949E-6
12-53509308-G-C p.Trp193Ser missense SOAT2 1 81644 1.22483E-5 40822 0 9.35594E-6
12-53509320-C-T p.Thr197Met missense SOAT2 8 80926 9.88557E-5 40463 0 5.05051E-4
12-53509338-T-C p.Leu203Pro missense SOAT2 1 80318 1.24505E-5 40159 0 1.07873E-5
12-53509339-GC-TT p.LeuLeu203LeuLeu synonymous SOAT2 10354 79608 0.130062 39804 556 NA
12-53509339-G-T p.Leu203Leu synonymous SOAT2 1388 80020 0.0173457 40010 461 0.199981
12-53509340-C-T p.Leu204Leu synonymous SOAT2 1395 79980 0.0174419 39990 465 0.199994
12-53509343-G-C p.Ala205Pro missense SOAT2 1 79990 1.25016E-5 39995 0 3.18593E-5
12-53509352-G-A p.Ala208Thr missense SOAT2 1 79230 1.26215E-5 39615 0 NA
12-53509362-T-A p.Leu211His missense SOAT2 3 78654 3.81417E-5 39327 0 4.22662E-5
12-53509363-C-T p.Leu211Leu synonymous SOAT2 1 78548 1.27311E-5 39274 0 4.73082E-6
12-53509366-C-T p.Cys212Cys synonymous SOAT2 3 78114 3.84054E-5 39057 0 5.06073E-4
12-53509369-G-A p.Ala213Ala synonymous SOAT2 2 77752 2.57228E-5 38876 0 4.83962E-6
12-53509370-C-G p.Leu214Val missense SOAT2 2 77812 2.5703E-5 38906 0 9.12619E-5
12-53509370-CT-GG p.Leu214Gly missense SOAT2 2 77812 2.5703E-5 38906 0 NA
12-53509382-G-A p.Val218Met missense SOAT2 1 77104 1.29695E-5 38552 0 NA
12-53509385-G-A p.Ala219Thr missense SOAT2 1 76730 1.30327E-5 38365 0 1.58013E-5
12-53509393-G-A p.Glu221Glu synonymous SOAT2 5 76376 6.54656E-5 38188 0 NA
12-53509405-G-A p.Pro225Pro synonymous SOAT2 61 75728 8.05514E-4 37864 0 0.00101911
12-53509405-G-T p.Pro225Pro synonymous SOAT2 4 75736 5.2815E-5 37868 0 1.80897E-5
12-53509407-C-T p.Pro226Leu missense SOAT2 1 75692 1.32114E-5 37846 0 3.18451E-5
12-53509415-C-G p.Arg229Gly missense SOAT2 2 75408 2.65224E-5 37704 0 NA
12-53509425-TG-T p.Val233fs frameshift SOAT2 1 75196 1.32986E-5 37598 0 NA
12-53509426-G-C p.Leu232Leu synonymous SOAT2 1 75172 1.33028E-5 37586 0 NA
12-53509430-TTCGAGCAGGTGAGGGCCGAGCCCTGCTGACGGACAGGAAGGAACCA-T p.Phe234fs frameshift SOAT2 1 74874 1.33558E-5 37437 0 NA
12-53509433-G-C p.Glu235Gln missense SOAT2 54 74338 7.26412E-4 37169 0 0.00115675
12-53509438-G-A p.Gln236Gln splice_region+synonymous SOAT2 6 73976 8.11074E-5 36988 0 4.32296E-5
12-53509440-T-A c.708+2T>A splice_donor SOAT2 1 73706 1.35674E-5 36853 0 2.09188E-5
12-53509442-A-G c.708+4A>G splice_region SOAT2 4 73568 5.43715E-5 36784 0 6.33794E-5
12-53509880-G-T c.709-1G>T splice_acceptor SOAT2 2 82934 2.41156E-5 41467 0 8.23778E-6
12-53509886-G-T p.Arg238Ser missense SOAT2 1 82952 1.20552E-5 41476 0 NA
12-53509917-G-A p.Glu249Lys missense SOAT2 2 82956 2.41092E-5 41478 0 4.94201E-5
12-53509917-G-C p.Glu249Gln missense SOAT2 1 82956 1.20546E-5 41478 0 NA
12-53509920-G-A p.Ala250Thr missense SOAT2 2 82934 2.41156E-5 41467 0 NA
12-53509933-C-T p.Thr254Ile missense SOAT2 16372 82546 0.198338 41273 1828 0.243031
12-53509934-C-T p.Thr254Thr synonymous SOAT2 1 82896 1.20633E-5 41448 0 6.36862E-5
12-53509938-C-T p.Arg256Cys missense SOAT2 2 82844 2.41418E-5 41422 0 1.64742E-5
12-53509942-C-G p.Ala257Gly missense SOAT2 1 82824 1.20738E-5 41412 0 NA
12-53509945-G-C p.Arg258Thr missense SOAT2 1 82772 1.20814E-5 41386 0 NA
12-53509947-C-G p.Arg259Gly missense SOAT2 3 82748 3.62547E-5 41374 0 0.0020141
12-53509948-G-A p.Arg259Gln missense+splice_region SOAT2 8 82726 9.67048E-5 41363 0 3.18451E-4
12-53509950-G-C p.Gly260Arg missense+splice_region SOAT2 1 82722 1.20887E-5 41361 0 5.76625E-5
12-53512130-C-A c.779-4C>A splice_region SOAT2 10 83088 1.20354E-4 41544 0 2.24115E-4
12-53512134-G-T p.Gly260Val missense+splice_region SOAT2 57 83136 6.85624E-4 41568 0 4.808E-4
12-53512141-G-C p.Gly262Gly synonymous SOAT2 2 83168 2.40477E-5 41584 0 8.2447E-6
12-53512147-G-C p.Gln264His missense SOAT2 2 83204 2.40373E-5 41602 0 NA
12-53512147-G-A p.Gln264Gln synonymous SOAT2 2 83204 2.40373E-5 41602 0 1.64886E-5
12-53512148-GC-G p.Ser267fs frameshift SOAT2 5 83196 6.0099E-5 41598 0 2.47325E-5
12-53512150-C-T p.Ala265Ala synonymous SOAT2 1 83204 1.20187E-5 41602 0 NA
12-53512151-C-T p.Pro266Ser missense SOAT2 1 83214 1.20172E-5 41607 0 NA
12-53512177-C-T p.Phe274Phe synonymous SOAT2 1 83242 1.20132E-5 41621 0 7.95437E-5
12-53512192-A-G p.Thr279Thr synonymous SOAT2 1 83214 1.20172E-5 41607 0 8.2481E-6
12-53512196-A-G p.Ile281Val missense SOAT2 11 83204 1.32205E-4 41602 0 0.00151057
12-53512204-G-A p.Arg283Arg synonymous SOAT2 1 83174 1.2023E-5 41587 0 9.57916E-5
12-53512207-G-C p.Glu284Asp missense SOAT2 2 83152 2.40523E-5 41576 0 3.97839E-6
12-53512666-C-T c.864-8C>T splice_region SOAT2 11 83354 1.31967E-4 41677 0 1.40024E-4
12-53512667-G-A c.864-7G>A splice_region SOAT2 1 83358 1.19964E-5 41679 0 1.98864E-5
12-53512668-C-G c.864-6C>G splice_region SOAT2 2 83360 2.39923E-5 41680 0 NA
12-53512674-G-T p.Arg288Ser missense+splice_region SOAT2 12 83356 1.43961E-4 41678 0 3.18634E-5
12-53512676-C-T p.Thr289Met missense+splice_region SOAT2 3 83352 3.59919E-5 41676 0 5.03525E-4
12-53512677-G-A p.Thr289Thr synonymous SOAT2 11 83360 1.31958E-4 41680 0 0.00151057
12-53512680-CT-C p.Tyr291fs frameshift SOAT2 15 83362 1.79938E-4 41681 0 1.64731E-4
12-53512690-T-G p.Trp294Gly missense SOAT2 1 83364 1.19956E-5 41682 0 3.97693E-6
12-53512699-G-A p.Val297Met missense SOAT2 21 83364 2.51907E-4 41682 0 0.003125
12-53512713-T-C p.Phe301Phe synonymous SOAT2 1 83366 1.19953E-5 41683 0 NA
12-53512900-C-T c.910-8C>T splice_region SOAT2 5 83128 6.01482E-5 41564 0 2.27122E-4
12-53512906-AG-A c.910-1delG splice_acceptor SOAT2 1 83152 1.20262E-5 41576 0 7.96432E-6
12-53512907-G-GGCCCTGGGATGTGTGCTCTATGCCTGCTTCATCCTGGGCCGCCTCTGTGTTCCTGTCTTTGCCAACATGAGCCGAGAGCCCTTCAGCACCCGT p.Gly306_Leu336dup disruptive_inframe_insertion SOAT2 1 83136 1.20285E-5 41568 0 NA
12-53512916-A-T p.Asp291Val missense SOAT2 1 83156 1.20256E-5 41578 0 5.03525E-4
12-53512925-C-G p.Ser294Cys missense SOAT2 1 83190 1.20207E-5 41595 0 8.24076E-6
12-53512925-C-T p.Ser294Phe missense SOAT2 2 83190 2.40414E-5 41595 0 NA
12-53512927-A-C p.Tyr310Ser missense SOAT2 1 83184 1.20215E-5 41592 0 8.24063E-6
12-53512928-T-C p.Met295Thr missense SOAT2 3 83200 3.60577E-5 41600 0 5.68622E-4
12-53512947-C-A p.Arg317Ser missense SOAT2 1 83182 1.20218E-5 41591 0 8.24035E-6
12-53512947-C-T p.Arg317Cys missense SOAT2 2 83182 2.40437E-5 41591 0 2.47211E-5
12-53512948-G-A p.Arg317His missense SOAT2 3 83184 3.60646E-5 41592 0 6.3857E-5
12-53512948-G-T p.Arg317Leu missense SOAT2 1 83184 1.20215E-5 41592 0 NA
12-53512949-C-T p.Ala302Val missense SOAT2 1 83202 1.20189E-5 41601 0 NA
12-53512974-A-G p.Met326Val missense SOAT2 5 83132 6.01453E-5 41566 0 3.29881E-5
12-53512975-T-G p.Ter311Glyext*? stop_lost SOAT2 1 83140 1.20279E-5 41570 0 NA
12-53512981-G-A p.Arg328Gln missense SOAT2 2 83098 2.4068E-5 41549 0 2.78465E-5
12-53512993-G-A p.Ser332Asn missense SOAT2 1 83032 1.20435E-5 41516 0 8.25777E-6
12-53512994-C-A p.Ser332Arg missense SOAT2 1 83026 1.20444E-5 41513 0 NA
12-53512998-C-T p.Arg334Cys missense SOAT2 3 82986 3.61507E-5 41493 0 2.47938E-5
12-53512999-G-A p.Arg334His missense SOAT2 3 82968 3.61585E-5 41484 0 4.13373E-5
12-53513002-C-T p.Ala335Val missense SOAT2 1 82956 1.20546E-5 41478 0 5.03525E-4
12-53513012-CTCTA-C p.Ile340fs frameshift SOAT2 20 82964 2.41068E-4 41482 0 0.00302115
12-53513012-C-T p.Leu338Leu synonymous SOAT2 1 82964 1.20534E-5 41482 0 NA
12-53513019-C-T p.Leu341Leu synonymous SOAT2 2 82938 2.41144E-5 41469 0 3.98349E-6
12-53513027-C-T p.Ala343Ala synonymous SOAT2 4 82856 4.82765E-5 41428 0 3.18735E-5
12-53513029-C-T p.Thr344Met missense SOAT2 6 82826 7.2441E-5 41413 0 3.98708E-5
12-53513030-G-A p.Thr344Thr synonymous SOAT2 23 82798 2.77784E-4 41399 0 0.00100705
12-53513037-G-A p.Gly347Ser missense+splice_region SOAT2 1 82734 1.20869E-5 41367 0 3.99061E-5
12-53514566-C-G c.1040-4C>G splice_region SOAT2 1 82616 1.21042E-5 41308 0 NA
12-53514570-G-C p.Gly347Ala missense+splice_region SOAT2 1 82690 1.20934E-5 41345 0 1.5908E-5
12-53514583-G-A p.Leu351Leu synonymous SOAT2 4 82902 4.82497E-5 41451 0 1.59297E-4
12-53514596-T-C p.Phe356Leu missense SOAT2 1 83012 1.20465E-5 41506 0 3.97627E-6
12-53514600-C-A p.Ala357Asp missense SOAT2 10 83032 1.20435E-4 41516 0 4.14118E-4
12-53514604-C-T p.Phe358Phe synonymous SOAT2 1 83044 1.20418E-5 41522 0 8.23683E-6
12-53514619-C-G p.Leu363Leu synonymous SOAT2 4 83094 4.81383E-5 41547 0 3.29473E-5
12-53514621-A-T p.Asn364Ile missense SOAT2 3 83096 3.61028E-5 41548 0 6.58946E-5
12-53514622-C-T p.Asn364Asn synonymous SOAT2 3 83088 3.61063E-5 41544 0 8.23683E-6
12-53514623-G-C p.Ala365Pro missense SOAT2 3 83096 3.61028E-5 41548 0 6.3743E-5
12-53514632-G-A p.Glu368Lys missense SOAT2 3 83072 3.61133E-5 41536 0 3.57873E-5
12-53514634-G-A p.Glu368Glu synonymous SOAT2 5 83070 6.01902E-5 41535 0 3.29468E-5
12-53514634-G-T p.Glu368Asp missense SOAT2 2 83070 2.40761E-5 41535 0 6.37064E-5
12-53514638-C-T p.Leu370Leu synonymous SOAT2 1 83058 1.20398E-5 41529 0 1.27437E-4
12-53514641-C-T p.Arg371* stop_gained SOAT2 1 83038 1.20427E-5 41519 0 2.47101E-5
12-53514642-G-A p.Arg371Gln missense SOAT2 2 83034 2.40865E-5 41517 0 3.18573E-5
12-53514652-C-T p.Asp374Asp synonymous SOAT2 1 82960 1.2054E-5 41480 0 3.18492E-5
12-53514663-A-G p.Tyr378Cys missense SOAT2 1 82864 1.2068E-5 41432 0 NA
12-53514665-C-T p.Arg379Trp missense+splice_region SOAT2 9 82782 1.08719E-4 41391 0 NA
12-53514666-G-A p.Arg379Gln missense+splice_region SOAT2 14 82794 1.69094E-4 41397 0 1.59236E-4
12-53514668-G-A c.1137+1G>A splice_donor SOAT2 1 82798 1.20776E-5 41399 0 NA
12-53514669-T-G c.1137+2T>G splice_donor SOAT2 2 82742 2.41715E-5 41371 0 3.18613E-5
12-53515091-G-A p.Trp381* stop_gained SOAT2 8 82810 9.66067E-5 41405 0 3.18552E-5
12-53515092-G-A p.Trp381* stop_gained SOAT2 9 82816 1.08675E-4 41408 0 6.37105E-5
12-53515101-A-G p.Ser384Ser synonymous SOAT2 3 82874 3.61995E-5 41437 0 7.41779E-5
12-53515102-A-G p.Thr385Ala missense SOAT2 1 82890 1.20642E-5 41445 0 3.97703E-6
12-53515103-C-T p.Thr385Met missense SOAT2 2 82898 2.4126E-5 41449 0 3.29652E-5
12-53515104-G-A p.Thr385Thr synonymous SOAT2 2 82910 2.41225E-5 41455 0 4.12052E-5
12-53515116-C-A p.Asn389Lys missense SOAT2 5 82888 6.03224E-5 41444 0 1.56582E-4
12-53515126-A-G p.Thr393Ala missense SOAT2 4 82908 4.82462E-5 41454 0 NA
12-53515127-C-G p.Thr393Ser missense SOAT2 2 82910 2.41225E-5 41455 0 NA
12-53515131-G-A p.Trp394* stop_gained SOAT2 3 82896 3.61899E-5 41448 0 3.18512E-5
12-53515134-C-T p.Asn395Asn synonymous SOAT2 3 82848 3.62109E-5 41424 0 6.59565E-5
12-53515144-C-T p.His399Tyr missense SOAT2 1 82780 1.20802E-5 41390 0 1.64946E-5
12-53515145-A-G p.His399Arg missense SOAT2 1 82766 1.20823E-5 41383 0 1.98875E-5
12-53515150-T-C p.Trp401Arg missense SOAT2 1 82678 1.20951E-5 41339 0 NA
12-53515155-G-C p.Leu402Leu synonymous SOAT2 98 82530 0.00118745 41265 0 0.00286588
12-53515158-C-T p.Tyr403Tyr synonymous SOAT2 15 82464 1.81898E-4 41232 0 0.003125
12-53515167-G-T p.Val406Val synonymous SOAT2 5 82180 6.08421E-5 41090 0 8.25996E-6
12-53515169-A-T p.Tyr407Phe missense SOAT2 1 82066 1.21853E-5 41033 0 NA
12-53515175-A-T p.Asp409Val missense SOAT2 1 81802 1.22246E-5 40901 0 2.47987E-5
12-53515183-C-T p.Arg412Trp missense+splice_region SOAT2 2 81186 2.46348E-5 40593 0 3.98362E-6
12-53515183-C-A p.Arg412Arg splice_region+synonymous SOAT2 4 81188 4.92684E-5 40594 0 3.18492E-5
12-53515184-G-A p.Arg412Gln missense+splice_region SOAT2 48 81208 5.91075E-4 40604 0 4.38597E-4
12-53515193-C-T c.1236+8C>T splice_region SOAT2 1 80292 1.24545E-5 40146 0 NA
12-53516857-C-T c.1237-8C>T splice_region SOAT2 2 82076 2.43677E-5 41038 0 NA
12-53516860-G-A c.1237-5G>A splice_region SOAT2 18 82190 2.19005E-4 41095 0 0.0010846
12-53516868-C-T p.Leu414Phe missense SOAT2 2 82384 2.42766E-5 41192 0 NA
12-53516868-C-G p.Leu414Val missense SOAT2 1 82384 1.21383E-5 41192 0 NA
12-53516869-T-C p.Leu414Pro missense SOAT2 36 82386 4.36967E-4 41193 0 0.00143522
12-53516870-T-C p.Leu414Leu synonymous SOAT2 2 82402 2.42713E-5 41201 0 2.82395E-5
12-53516876-C-T p.Ala416Ala synonymous SOAT2 1 82470 1.21256E-5 41235 0 3.18939E-5
12-53516877-C-A p.Arg417Arg synonymous SOAT2 2 82508 2.42401E-5 41254 0 3.18857E-5
12-53516877-C-T p.Arg417Trp missense SOAT2 2 82508 2.42401E-5 41254 0 3.62103E-5
12-53516877-C-G p.Arg417Gly missense SOAT2 1 82508 1.212E-5 41254 0 NA
12-53516878-G-A p.Arg417Gln missense SOAT2 55 82538 6.6636E-4 41269 0 0.00232855
12-53516884-G-A p.Arg419Gln missense SOAT2 4 82634 4.84062E-5 41317 0 4.20585E-5
12-53516900-G-A p.Leu424Leu synonymous SOAT2 1 82880 1.20656E-5 41440 0 6.37389E-5
12-53516910-C-T p.Leu428Leu synonymous SOAT2 2 82994 2.40981E-5 41497 0 1.5928E-5
12-53516919-G-A p.Ala431Thr missense SOAT2 22 83070 2.64837E-4 41535 0 0.00100705
12-53516930-T-A p.His434Gln missense SOAT2 37 83202 4.44701E-4 41601 0 8.93085E-4
12-53516934-T-G p.Tyr436Asp missense SOAT2 1 83208 1.20181E-5 41604 0 NA
12-53516935-A-G p.Tyr436Cys missense SOAT2 3 83218 3.60499E-5 41609 0 3.97905E-6
12-53516945-C-A p.Cys439* stop_gained SOAT2 1 83264 1.201E-5 41632 0 3.97867E-6
12-53516948-C-A p.Phe440Leu missense SOAT2 3 83270 3.60274E-5 41635 0 5.17195E-5
12-53516956-G-A p.Gly443Glu missense SOAT2 2 83274 2.40171E-5 41637 0 NA
12-53516957-G-T p.Gly443Gly synonymous SOAT2 2 83280 2.40154E-5 41640 0 3.18817E-5
12-53516972-C-T p.Val448Val synonymous SOAT2 1 83294 1.20057E-5 41647 0 NA
12-53516977-T-C p.Leu450Pro missense SOAT2 1 83286 1.20068E-5 41643 0 3.97874E-6
12-53516978-G-A p.Leu450Leu synonymous SOAT2 1 83282 1.20074E-5 41641 0 NA
12-53516982-C-T p.Leu452Phe missense SOAT2 1 83276 1.20083E-5 41638 0 6.37714E-5
12-53516992-T-C p.Val455Ala missense SOAT2 1 83254 1.20114E-5 41627 0 3.29516E-5
12-53516993-C-T p.Val455Val synonymous SOAT2 681 83230 0.00818215 41615 3 0.00540844
12-53516994-AT-A p.Ile456fs frameshift SOAT2 1 83240 1.20135E-5 41620 0 3.98038E-6
12-53516999-A-T p.Gly457Gly splice_region+synonymous SOAT2 2 83224 2.40315E-5 41612 0 NA
12-53517005-G-A c.1372+5G>A splice_region SOAT2 1 83180 1.20221E-5 41590 0 7.96235E-6
12-53517514-A-G p.Met459Val missense+splice_region SOAT2 1 83170 1.20236E-5 41585 0 8.24606E-6
12-53517516-G-T p.Met459Ile missense SOAT2 1 83188 1.2021E-5 41594 0 NA
12-53517525-C-T p.Phe462Phe synonymous SOAT2 1 83234 1.20143E-5 41617 0 NA
12-53517532-CA-C p.His465fs frameshift SOAT2 8 83244 9.6103E-5 41622 0 4.77933E-4
12-53517534-T-C p.His465His synonymous SOAT2 1 83244 1.20129E-5 41622 0 NA
12-53517539-A-G p.Gln467Arg missense SOAT2 1 83272 1.20088E-5 41636 0 NA
12-53517541-C-T p.Arg468Cys missense SOAT2 3 83282 3.60222E-5 41641 0 2.78525E-5
12-53517541-C-A p.Arg468Ser missense SOAT2 1 83282 1.20074E-5 41641 0 NA
12-53517542-G-A p.Arg468His missense SOAT2 1 83272 1.20088E-5 41636 0 2.78487E-5
12-53517547-G-A p.Gly470Ser missense SOAT2 4 83284 4.80284E-5 41642 0 3.18857E-5
12-53517551-C-T p.Pro471Leu missense SOAT2 7 83312 8.40215E-5 41656 0 4.94291E-5
12-53517552-G-A p.Pro471Pro synonymous SOAT2 1972 83274 0.0236809 41637 30 0.0241298
12-53517561-C-T p.Asn474Asn synonymous SOAT2 1 83322 1.20016E-5 41661 0 8.23737E-6
12-53517562-G-A p.Val475Met missense SOAT2 13 83322 1.56021E-4 41661 0 1.59408E-4
12-53517567-G-A p.Leu476Leu synonymous SOAT2 86 83328 0.00103207 41664 0 0.00100705
12-53517570-G-A p.Met477Ile missense SOAT2 1 83338 1.19993E-5 41669 0 3.29495E-5
12-53517576-C-G p.Thr479Thr synonymous SOAT2 1 83330 1.20005E-5 41665 0 NA
12-53517593-A-G p.Gln485Arg missense SOAT2 1 83328 1.20008E-5 41664 0 NA
12-53517596-G-A p.Gly486Glu missense SOAT2 2 83332 2.40004E-5 41666 0 NA
12-53517617-G-T p.Cys493Phe missense SOAT2 8 83328 9.60061E-5 41664 0 NA
12-53517632-C-T p.Ala498Val missense SOAT2 1 83280 1.20077E-5 41640 0 3.18817E-5
12-53517634-C-T p.Arg499Trp missense SOAT2 1 83274 1.20085E-5 41637 0 3.18756E-5
12-53517635-G-A p.Arg499Gln missense SOAT2 4 83268 4.80377E-5 41634 0 6.37959E-5
12-53517637-C-T p.Arg500Trp missense SOAT2 3 83264 3.603E-5 41632 0 1.64997E-5
12-53517850-G-A c.1519-7G>A splice_region SOAT2 1 83236 1.2014E-5 41618 0 3.18695E-5
12-53517865-C-G p.Phe509Leu missense SOAT2 1 83230 1.20149E-5 41615 0 2.47109E-5
12-53517874-G-A p.Leu512Leu synonymous SOAT2 1 83230 1.20149E-5 41615 0 NA
12-53517881-C-T p.Pro515Ser missense SOAT2 1 83228 1.20152E-5 41614 0 2.47093E-5
12-53517884-C-T p.Arg516* stop_gained SOAT2 1 83230 1.20149E-5 41615 0 3.29457E-5
12-53517885-G-C p.Arg516Pro missense SOAT2 1 83236 1.2014E-5 41618 0 NA
12-53517891-G-T p.Trp518Leu missense SOAT2 1 83220 1.20163E-5 41610 0 7.95564E-6
12-53517904-C-CT p.Ter523fs frameshift SOAT2 3 83236 3.60421E-5 41618 0 6.37349E-5
12-53518132-C-A c.*815C>A splice_region SOAT2 1 25714 3.88893E-5 12857 0 NA
12-53518134-C-G c.*817C>G splice_region SOAT2 1 25282 3.95538E-5 12641 0 NA
12-53518314-TATTCATTCATTC-T c.*408_*419delATTCATTCATTC splice_region SOAT2 29 3212 0.00902864 1606 0 0.0370583