Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-89631425-A-T c.-476A>T 5_prime_UTR_premature_start_codon_gain ABHD2 8 2944 0.00271739 1472 0 0.0122768
15-89631645-G-A c.-256G>A 5_prime_UTR_premature_start_codon_gain ABHD2 2 2960 6.75676E-4 1480 0 1.27364E-4
15-89645727-G-A n.143-4G>A splice_region ABHD2 17 2942 0.00577838 1471 0 0.0176433
15-89645769-C-T c.-376C>T 5_prime_UTR_premature_start_codon_gain ABHD2 2 2948 6.78426E-4 1474 0 2.22916E-4
15-89645809-T-C c.-338+2T>C splice_donor ABHD2 2 2942 6.7981E-4 1471 0 NA
15-89647134-G-T c.-337G>T splice_region ABHD2 1 2948 3.39213E-4 1474 0 3.18898E-5
15-89647273-G-A c.-198G>A splice_region ABHD2 1 2954 3.38524E-4 1477 0 3.18512E-5
15-89647463-T-G c.-145T>G 5_prime_UTR_premature_start_codon_gain ABHD2 2 2916 6.85871E-4 1458 0 3.18756E-5
15-89659548-C-G c.-6-5C>G splice_region ABHD2 3 82726 3.62643E-5 41363 0 6.03165E-5
15-89659549-C-T c.-6-4C>T splice_region ABHD2 1 82750 1.20846E-5 41375 0 3.40067E-5
15-89659568-A-G p.Met4Val missense ABHD2 1 83060 1.20395E-5 41530 0 NA
15-89659570-G-A p.Met4Ile missense ABHD2 1 83090 1.20351E-5 41545 0 8.32917E-6
15-89659571-C-G p.Leu5Val missense ABHD2 1 83094 1.20346E-5 41547 0 1.66533E-5
15-89659577-A-G p.Thr7Ala missense ABHD2 2 83090 2.40703E-5 41545 0 9.97478E-5
15-89659582-C-T p.Pro8Pro synonymous ABHD2 6 83126 7.21796E-5 41563 0 6.37349E-5
15-89659594-C-T p.Ala12Ala synonymous ABHD2 3 83174 3.6069E-5 41587 0 0.00100705
15-89659607-G-A p.Val17Met missense ABHD2 3 83230 3.60447E-5 41615 0 3.29696E-5
15-89659634-C-T p.Leu26Leu synonymous ABHD2 1 83174 1.2023E-5 41587 0 NA
15-89659639-C-T p.Tyr27Tyr synonymous ABHD2 341 83176 0.00409974 41588 4 0.00898032
15-89659646-G-A p.Val30Ile missense ABHD2 1 83182 1.20218E-5 41591 0 2.47145E-5
15-89659652-T-A p.Cys32Ser missense ABHD2 3 83170 3.60707E-5 41585 0 8.23845E-6
15-89659669-C-T p.Ser37Ser synonymous ABHD2 1 83202 1.20189E-5 41601 0 3.97953E-6
15-89659708-G-A p.Gly50Gly synonymous ABHD2 1 83196 1.20198E-5 41598 0 8.25355E-6
15-89659711-C-T p.Leu51Leu synonymous ABHD2 1 83212 1.20175E-5 41606 0 NA
15-89659716-G-A p.Arg53His missense ABHD2 58 83200 6.97115E-4 41600 0 0.0014333
15-89659737-C-G p.Pro60Arg missense ABHD2 3 83212 3.60525E-5 41606 0 2.86533E-4
15-89659744-G-T p.Leu62Leu synonymous ABHD2 1 83176 1.20227E-5 41588 0 4.00112E-6
15-89659746-C-A p.Thr63Asn missense ABHD2 1 83170 1.20236E-5 41585 0 NA
15-89659747-C-T p.Thr63Thr synonymous ABHD2 1 83154 1.20259E-5 41577 0 8.37268E-6
15-89694920-G-A p.Pro69Pro synonymous ABHD2 10 83328 1.20008E-4 41664 0 0.00100705
15-89694938-T-C p.Ser75Ser synonymous ABHD2 2 83344 2.39969E-5 41672 0 NA
15-89694944-C-T p.His77His synonymous ABHD2 2 83340 2.39981E-5 41670 0 2.78503E-5
15-89694962-T-C p.Tyr83Tyr synonymous ABHD2 1 83346 1.19982E-5 41673 0 NA
15-89694983-G-T p.Arg90Ser missense ABHD2 3 83332 3.60006E-5 41666 0 6.37105E-5
15-89694986-G-A p.Ser91Ser synonymous ABHD2 50 83326 6.00053E-4 41663 0 0.00235589
15-89694986-G-C p.Ser91Ser synonymous ABHD2 24 83326 2.88025E-4 41663 0 6.25782E-4
15-89694996-T-A p.Tyr95Asn missense ABHD2 1 83342 1.19988E-5 41671 0 3.97646E-6
15-89695010-G-A p.Lys99Lys synonymous ABHD2 3 83362 3.59876E-5 41681 0 1.19297E-5
15-89695043-A-G p.Thr110Thr synonymous ABHD2 4 83356 4.79869E-5 41678 0 NA
15-89695043-A-T p.Thr110Thr synonymous ABHD2 1 83356 1.19967E-5 41678 0 2.78379E-5
15-89695046-C-T p.Phe111Phe synonymous ABHD2 6 83354 7.19821E-5 41677 0 5.03525E-4
15-89695051-T-G p.Leu113Arg missense ABHD2 2 83344 2.39969E-5 41672 0 NA
15-89695055-C-T p.Phe114Phe synonymous ABHD2 3 83338 3.5998E-5 41669 0 6.25E-4
15-89695056-G-A p.Glu115Lys missense ABHD2 1 83336 1.19996E-5 41668 0 8.25887E-6
15-89695064-G-A p.Leu117Leu synonymous ABHD2 2 83320 2.40038E-5 41660 0 NA
15-89695073-C-T p.His120His synonymous ABHD2 2 83298 2.40102E-5 41649 0 3.98108E-6
15-89695086-G-A c.370+3G>A splice_region ABHD2 2 83228 2.40304E-5 41614 0 NA
15-89695091-G-T c.370+8G>T splice_region ABHD2 3 83160 3.6075E-5 41580 0 1.67529E-5
15-89698590-C-T c.371-8C>T splice_region ABHD2 6 83236 7.20842E-5 41618 0 6.25E-4
15-89698591-G-C c.371-7G>C splice_region ABHD2 186 83238 0.00223456 41619 2 0.0044603
15-89698591-G-A c.371-7G>A splice_region ABHD2 1 83252 1.20117E-5 41626 0 3.99629E-5
15-89698594-A-G c.371-4A>G splice_region ABHD2 2 83272 2.40177E-5 41636 0 2.38973E-5
15-89698595-T-C c.371-3T>C splice_region ABHD2 6 83278 7.20478E-5 41639 0 1.27356E-4
15-89698601-A-T p.Asp125Val missense ABHD2 1 83302 1.20045E-5 41651 0 6.36699E-5
15-89698604-T-C p.Ile126Thr missense ABHD2 2 83302 2.4009E-5 41651 0 2.4832E-5
15-89698609-A-G p.Met128Val missense ABHD2 1 83318 1.20022E-5 41659 0 NA
15-89698610-T-C p.Met128Thr missense ABHD2 2 83318 2.40044E-5 41659 0 NA
15-89698641-C-T p.Ser138Ser synonymous ABHD2 2 83346 2.39964E-5 41673 0 1.6481E-5
15-89698647-G-A p.Lys140Lys synonymous ABHD2 1 83358 1.19964E-5 41679 0 3.97655E-6
15-89698664-T-C p.Phe146Ser missense ABHD2 1 83362 1.19959E-5 41681 0 8.23696E-6
15-89698675-G-A p.Ala150Thr missense ABHD2 1 83374 1.19941E-5 41687 0 8.23696E-6
15-89698693-C-T p.Arg156Trp missense ABHD2 1 83376 1.19939E-5 41688 0 8.23723E-6
15-89698695-G-A p.Arg156Arg synonymous ABHD2 2 83368 2.399E-5 41684 0 7.95336E-6
15-89698701-C-T p.Ala158Ala synonymous ABHD2 195 83362 0.0023392 41681 3 0.00445973
15-89698702-G-A p.Val159Met missense ABHD2 1 83366 1.19953E-5 41683 0 8.23723E-6
15-89698719-T-G p.Gly164Gly synonymous ABHD2 1 83364 1.19956E-5 41682 0 NA
15-89698733-T-C p.Ile169Thr missense ABHD2 2 83350 2.39952E-5 41675 0 1.59175E-5
15-89698734-T-C p.Ile169Ile synonymous ABHD2 1 83344 1.19985E-5 41672 0 NA
15-89698753-A-G p.Met176Val missense ABHD2 1 83298 1.20051E-5 41649 0 1.9947E-5
15-89698755-G-A p.Met176Ile missense ABHD2 3 83296 3.60161E-5 41648 0 4.3915E-5
15-89719040-C-T c.539-3C>T splice_region ABHD2 5 83330 6.00024E-5 41665 0 3.18451E-5
15-89719050-G-A p.Thr182Thr synonymous ABHD2 19 83344 2.27971E-4 41672 0 2.86588E-4
15-89719050-G-T p.Thr182Thr synonymous ABHD2 1 83346 1.19982E-5 41673 0 6.36862E-5
15-89719088-C-T p.Thr195Ile missense ABHD2 4 83366 4.79812E-5 41683 0 2.47101E-5
15-89719113-C-T p.Val203Val synonymous ABHD2 8 83364 9.59647E-5 41682 0 0.00100705
15-89719113-C-A p.Val203Val synonymous ABHD2 18 83364 2.15921E-4 41682 0 0.00101917
15-89719116-G-C p.Val204Val synonymous ABHD2 5 83360 5.99808E-5 41680 0 6.25E-4
15-89719167-G-C p.Gln221His missense ABHD2 3 83264 3.603E-5 41632 0 NA
15-89719169-C-G p.Ala222Gly missense ABHD2 1 83258 1.20109E-5 41629 0 1.19382E-5
15-89719170-A-T p.Ala222Ala synonymous ABHD2 3 83250 3.6036E-5 41625 0 5.57227E-5
15-89719188-G-T p.Leu228Leu synonymous ABHD2 1 83172 1.20233E-5 41586 0 NA
15-89719201-G-A p.Val233Met missense ABHD2 1 83044 1.20418E-5 41522 0 3.33868E-5
15-89719212-G-A p.Gly236Gly synonymous ABHD2 2 82882 2.41307E-5 41441 0 3.21409E-5
15-89719234-A-T c.722+8A>T splice_region ABHD2 3 82384 3.64148E-5 41192 0 3.18471E-5
15-89728661-G-A p.Gln243Gln synonymous ABHD2 1 83190 1.20207E-5 41595 0 NA
15-89728684-A-G p.Gln251Arg missense ABHD2 1 83296 1.20054E-5 41648 0 NA
15-89728687-G-A p.Cys252Tyr missense ABHD2 1 83302 1.20045E-5 41651 0 NA
15-89728700-C-G p.Tyr256* stop_gained ABHD2 2 83228 2.40304E-5 41614 0 NA
15-89728710-A-G p.Met260Val missense ABHD2 2 83200 2.40385E-5 41600 0 NA
15-89728736-C-T p.Ile268Ile synonymous ABHD2 1 83164 1.20244E-5 41582 0 8.2496E-6
15-89728741-C-T p.Ser270Leu missense ABHD2 1 83102 1.20334E-5 41551 0 8.25559E-6
15-89728742-G-A p.Ser270Ser synonymous ABHD2 6 83068 7.223E-5 41534 0 6.37755E-5
15-89731426-A-G p.Gln273Arg missense+splice_region ABHD2 1 83276 1.20083E-5 41638 0 NA
15-89731428-G-A p.Ala274Thr missense ABHD2 50 83282 6.0037E-4 41641 0 0.001624
15-89731429-C-G p.Ala274Gly missense ABHD2 1 83290 1.20062E-5 41645 0 NA
15-89731431-C-G p.Leu275Val missense ABHD2 1 83296 1.20054E-5 41648 0 3.97703E-6
15-89731445-T-C p.His279His synonymous ABHD2 1 83326 1.20011E-5 41663 0 3.97649E-6
15-89731449-A-G p.Lys281Glu missense ABHD2 13 83330 1.56006E-4 41665 0 0.00321636
15-89731459-A-G p.Gln284Arg missense ABHD2 2 83330 2.4001E-5 41665 0 NA
15-89731462-G-A p.Ser285Asn missense ABHD2 3 83320 3.60058E-5 41660 0 6.25E-4
15-89731478-C-A p.Asp290Glu missense ABHD2 1 83324 1.20013E-5 41662 0 NA
15-89731512-C-T p.Gln302* stop_gained ABHD2 1 83244 1.20129E-5 41622 0 NA
15-89731517-T-A p.Ile303Ile synonymous ABHD2 1 83204 1.20187E-5 41602 0 NA
15-89731526-T-C p.Asn306Asn synonymous ABHD2 1 83162 1.20247E-5 41581 0 NA
15-89731537-G-A c.926+3G>A splice_region ABHD2 1 83024 1.20447E-5 41512 0 3.98229E-6
15-89731538-T-A c.926+4T>A splice_region ABHD2 1 82992 1.20494E-5 41496 0 NA
15-89734308-C-T c.927-3C>T splice_region ABHD2 1 83026 1.20444E-5 41513 0 NA
15-89734320-C-T p.His312His synonymous ABHD2 427 83100 0.00513839 41550 3 0.0100064
15-89734321-G-A p.Gly313Ser missense ABHD2 1 83126 1.20299E-5 41563 0 3.9868E-6
15-89734333-C-T p.Leu317Leu synonymous ABHD2 1 83204 1.20187E-5 41602 0 3.98203E-6
15-89734335-G-A p.Leu317Leu synonymous ABHD2 1 83204 1.20187E-5 41602 0 NA
15-89734348-G-A p.Glu322Lys missense ABHD2 1 83232 1.20146E-5 41616 0 NA
15-89734363-A-G p.Met327Val missense ABHD2 9 83228 1.08137E-4 41614 0 8.28954E-5
15-89734366-C-A p.Arg328Arg synonymous ABHD2 1 83230 1.20149E-5 41615 0 3.98216E-6
15-89734367-G-A p.Arg328Gln missense ABHD2 7 83224 8.41104E-5 41612 0 3.18573E-5
15-89734386-T-C c.996+6T>C splice_region ABHD2 1 83128 1.20296E-5 41564 0 1.65813E-5
15-89736459-G-A c.997-7G>A splice_region ABHD2 1 83164 1.20244E-5 41582 0 NA
15-89736480-C-T p.Leu337Leu synonymous ABHD2 2 83246 2.40252E-5 41623 0 NA
15-89736486-G-A p.Leu339Leu synonymous ABHD2 1 83260 1.20106E-5 41630 0 3.97671E-6
15-89736497-C-T p.Ala343Val missense ABHD2 8 83274 9.60684E-5 41637 0 4.01632E-4
15-89736501-C-T p.Asp344Asp synonymous ABHD2 164 83266 0.00196959 41633 1 0.00359941
15-89736507-G-A p.Pro346Pro synonymous ABHD2 4 83288 4.80261E-5 41644 0 1.03392E-4
15-89736521-G-A p.Ser351Asn missense ABHD2 4 83278 4.80319E-5 41639 0 3.18451E-5
15-89736529-A-G p.Thr354Ala missense ABHD2 1 83268 1.20094E-5 41634 0 8.23737E-6
15-89736530-C-G p.Thr354Ser missense ABHD2 3 83266 3.60291E-5 41633 0 NA
15-89736538-A-G p.Lys357Glu missense ABHD2 1 83228 1.20152E-5 41614 0 NA
15-89736542-C-A p.Ser358Tyr missense ABHD2 1 83222 1.20161E-5 41611 0 3.9769E-6
15-89736556-T-C c.1081+6T>C splice_region ABHD2 1 83098 1.2034E-5 41549 0 NA
15-89736558-T-C c.1081+8T>C splice_region ABHD2 30631 82380 0.371826 41190 5781 0.39986
15-89738464-G-A p.Arg363Gln missense ABHD2 2 81824 2.44427E-5 40912 0 4.02178E-6
15-89738471-C-T p.Asn365Asn synonymous ABHD2 1 82050 1.21877E-5 41025 0 4.01687E-5
15-89738474-C-T p.Val366Val synonymous ABHD2 1 82186 1.21675E-5 41093 0 NA
15-89738475-A-C p.Met367Leu missense ABHD2 40 82214 4.86535E-4 41107 0 0.00136951
15-89738475-A-G p.Met367Val missense ABHD2 1 82214 1.21634E-5 41107 0 NA
15-89738495-T-C p.His373His synonymous ABHD2 2 82834 2.41447E-5 41417 0 2.47353E-5
15-89738500-G-T p.Gly375Val missense ABHD2 1 82894 1.20636E-5 41447 0 3.99192E-6
15-89738503-A-G p.His376Arg missense ABHD2 2 82986 2.41005E-5 41493 0 NA
15-89738504-C-T p.His376His synonymous ABHD2 11 83008 1.32517E-4 41504 0 1.2738E-4
15-89738528-G-A p.Val384Val synonymous ABHD2 2 83286 2.40136E-5 41643 0 NA
15-89738531-G-C p.Leu385Leu synonymous ABHD2 1 83300 1.20048E-5 41650 0 NA
15-89738531-G-A p.Leu385Leu synonymous ABHD2 1 83300 1.20048E-5 41650 0 3.9814E-6
15-89738537-C-T p.Pro387Pro synonymous ABHD2 2 83294 2.40113E-5 41647 0 9.88566E-5
15-89738538-G-A p.Glu388Lys missense ABHD2 9 83302 1.08041E-4 41651 0 2.86697E-4
15-89738538-G-C p.Glu388Gln missense ABHD2 1 83302 1.20045E-5 41651 0 NA
15-89738576-C-T p.Tyr400Tyr synonymous ABHD2 559 83316 0.0067094 41658 0 0.018125
15-89738580-A-C p.Asn402His missense ABHD2 2 83320 2.40038E-5 41660 0 3.9782E-6
15-89738582-C-T p.Asn402Asn synonymous ABHD2 2 83316 2.4005E-5 41658 0 8.7519E-5
15-89738586-A-G p.Ile404Val missense ABHD2 1 83322 1.20016E-5 41661 0 3.97842E-6
15-89738602-G-A p.Arg409His missense ABHD2 2 83312 2.40061E-5 41656 0 3.58089E-5
15-89738606-C-G p.Asn410Lys missense ABHD2 2 83294 2.40113E-5 41647 0 NA
15-89738610-T-C p.Leu412Leu synonymous ABHD2 1 83292 1.2006E-5 41646 0 1.98929E-5
15-89738612-GC-TT p.LeuGln412* stop_gained ABHD2 1 83288 1.20065E-5 41644 0 NA
15-89738627-G-C p.Thr417Thr synonymous ABHD2 51 83196 6.1301E-4 41598 0 0.00312695
15-89738627-G-A p.Thr417Thr synonymous ABHD2 4 83196 4.80792E-5 41598 0 6.26959E-4
15-89738633-G-A p.Gln419Gln synonymous ABHD2 1 83150 1.20265E-5 41575 0 8.31297E-6
15-89738636-G-A p.Val420Val synonymous ABHD2 849 83130 0.0102129 41565 30 0.0199235
15-89738643-G-A p.Asp423Asn missense ABHD2 6 83002 7.22874E-5 41501 0 0.00100705
15-89738646-C-T p.Leu424Leu synonymous ABHD2 1 82954 1.20549E-5 41477 0 NA
15-89738980-C-T c.*326C>T splice_region ABHD2 2 48264 4.14388E-5 24132 0 6.36943E-5