Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-23721794-T-C n.1295A>G splice_region ACOT9 3 24700 1.21457E-4 12350 0 9.14202E-5
X-23722015-G-A p.Pro439Leu missense ACOT9 1 82310 1.21492E-5 41155 0 NA
X-23722019-C-T p.Glu438Lys missense ACOT9 1 82360 1.21418E-5 41180 0 5.46364E-6
X-23722026-G-A p.Tyr435Tyr synonymous ACOT9 12 82454 1.45536E-4 41227 2 7.09789E-5
X-23722045-G-A p.Ala429Val missense ACOT9 48 82492 5.81875E-4 41246 9 4.96842E-4
X-23722048-G-A p.Pro428Leu missense ACOT9 1 82560 1.21124E-5 41280 0 NA
X-23722062-G-A p.Asn423Asn synonymous ACOT9 2 82610 2.42101E-5 41305 1 1.09141E-5
X-23722064-T-G p.Asn423His missense ACOT9 3 82608 3.63161E-5 41304 0 2.32051E-5
X-23722067-AAT-A p.His421fs frameshift ACOT9 1 82594 1.21074E-5 41297 0 4.59601E-5
X-23722072-C-G p.Arg420Pro missense ACOT9 1 82510 1.21197E-5 41255 0 1.16267E-5
X-23722096-G-C p.Ser412Cys missense ACOT9 2 82050 2.43754E-5 41025 1 1.09688E-5
X-23722102-G-A c.1232-3C>T splice_region ACOT9 1 81908 1.22088E-5 40954 0 NA
X-23722835-A-G p.Leu403Leu synonymous ACOT9 13568 82736 0.163991 41368 4101 0.160727
X-23722841-C-T p.Val401Met missense ACOT9 1 83054 1.20404E-5 41527 0 NA
X-23722851-C-T p.Ser397Ser synonymous ACOT9 2 83036 2.40859E-5 41518 1 5.45837E-6
X-23722885-G-A p.Thr386Ile missense ACOT9 3 82936 3.61725E-5 41468 1 7.0917E-5
X-23722886-T-C p.Thr386Ala missense ACOT9 2 82926 2.41179E-5 41463 1 1.36808E-4
X-23722896-C-T p.Glu382Glu synonymous ACOT9 1 82886 1.20648E-5 41443 0 5.45399E-6
X-23722902-C-A p.Leu380Leu synonymous ACOT9 93 82850 0.00112251 41425 18 0.00196625
X-23722906-G-C p.Ser379Cys missense ACOT9 1 82846 1.20706E-5 41423 0 1.14038E-5
X-23722917-A-C p.Ser375Arg missense ACOT9 1 82774 1.20811E-5 41387 0 1.14089E-5
X-23722923-T-C p.Val373Val synonymous ACOT9 3 82750 3.62538E-5 41375 1 1.1417E-5
X-23722963-T-TGTGAAGAAAGAAAGAGCAATGAGCCAACCTC c.1081-3_1081-2insGAGGTTGGCTCATTGCTCTTTCTTTCTTCAC splice_region ACOT9 4 82316 4.85932E-5 41158 2 NA
X-23723102-A-C c.1080+8T>G splice_region ACOT9 6 82666 7.25812E-5 41333 2 5.59578E-6
X-23723122-A-G p.Phe356Phe synonymous ACOT9 2 82880 2.41313E-5 41440 1 NA
X-23723139-C-T p.Val351Ile missense ACOT9 2 82914 2.41214E-5 41457 1 6.87758E-4
X-23723146-A-G p.Pro348Pro synonymous ACOT9 1 82974 1.2052E-5 41487 0 NA
X-23723168-T-C p.Asp341Gly missense ACOT9 2 82866 2.41354E-5 41433 1 4.55125E-5
X-23723178-C-A p.Val338Leu missense ACOT9 2 82748 2.41698E-5 41374 1 3.29806E-5
X-23723185-C-T p.Pro335Pro synonymous ACOT9 2 82664 2.41943E-5 41332 1 2.28167E-5
X-23723186-G-A p.Pro335Leu missense ACOT9 4 82592 4.84308E-5 41296 0 4.56355E-5
X-23723198-C-CCAAAGCTACAAGCAGTAGCCCACGCAAGTTCATATGCCTTCCTCA c.993-2_993-1insTGAGGAAGGCATATGAACTTGCGTGGGCTACTGCTTGTAGCTTTG splice_acceptor ACOT9 2 82350 2.42866E-5 41175 1 NA
X-23723202-TG-T c.993-6delC splice_region ACOT9 4 82266 4.86228E-5 41133 0 2.73511E-4
X-23723622-T-G c.992+4A>C splice_region ACOT9 1 81700 1.22399E-5 40850 0 NA
X-23723641-G-C p.Thr326Ser missense ACOT9 1 82206 1.21646E-5 41103 0 NA
X-23723649-C-T p.Ala323Ala synonymous ACOT9 12 82290 1.45826E-4 41145 3 3.464E-5
X-23723665-T-C p.Lys318Arg missense ACOT9 2 82470 2.42512E-5 41235 1 NA
X-23723680-C-T p.Gly313Asp missense ACOT9 1 82488 1.2123E-5 41244 0 1.09783E-5
X-23723691-C-A p.Arg309Arg synonymous ACOT9 1 82434 1.21309E-5 41217 0 2.19916E-5
X-23723693-G-A p.Arg309Trp missense ACOT9 1 82364 1.21412E-5 41182 0 3.44978E-5
X-23723696-T-G p.Asn308His missense ACOT9 2 82380 2.42777E-5 41190 0 5.49617E-6
X-23723703-G-A p.Asn305Asn synonymous ACOT9 2 82384 2.42766E-5 41192 1 5.48932E-6
X-23723711-C-G p.Glu303Gln missense+splice_region ACOT9 2643 82268 0.0321267 41134 678 0.0894869
X-23723715-C-T c.907-4G>A splice_region ACOT9 1 82278 1.21539E-5 41139 0 2.31217E-5
X-23723878-A-G c.906+7T>C splice_region ACOT9 1 81644 1.22483E-5 40822 0 4.70182E-4
X-23723890-G-C p.Pro301Ala missense ACOT9 1 81796 1.22255E-5 40898 0 NA
X-23723891-G-A p.His300His synonymous ACOT9 5 81806 6.11202E-5 40903 0 6.87758E-4
X-23723893-G-C p.His300Asp missense ACOT9 1 81858 1.22163E-5 40929 0 2.18319E-5
X-23723925-T-C p.Glu289Gly missense ACOT9 5 82004 6.09726E-5 41002 1 4.56522E-5
X-23723935-C-T p.Val286Met missense ACOT9 2 81956 2.44033E-5 40978 0 9.04773E-5
X-23723956-G-A p.Arg279* stop_gained ACOT9 4 81492 4.90846E-5 40746 1 1.14257E-5
X-23723962-G-A p.Arg277Trp missense ACOT9 3 81430 3.68415E-5 40715 0 2.2646E-4
X-23723975-C-CTTTGGATCCAGTGTGCTGAGAAACATCTCATGTATGGTGGTCCTCT c.816-1_816insAGAGGACCACCATACATGAGATGTTTCTCAGCACACTGGATCCAAA splice_acceptor ACOT9 2 80826 2.47445E-5 40413 1 NA
X-23723975-C-CTTTGGAT c.816-1_816insATCCAAA splice_acceptor ACOT9 2 80826 2.47445E-5 40413 1 NA
X-23723975-C-A p.Lys272Asn missense+splice_region ACOT9 2 80826 2.47445E-5 40413 0 6.87758E-4
X-23723975-C-CTTTGGATCCAGTGTGCTGAGAAACATCTCATGTATGGTGGTCCT c.816-1_816insAGGACCACCATACATGAGATGTTTCTCAGCACACTGGATCCAAA splice_acceptor ACOT9 2 80826 2.47445E-5 40413 1 NA
X-23724771-C-T p.Glu263Glu synonymous ACOT9 1 80878 1.23643E-5 40439 0 9.42907E-5
X-23724783-G-C p.Thr259Thr synonymous ACOT9 2 81462 2.45513E-5 40731 1 NA
X-23724797-C-T p.Ala255Thr missense ACOT9 3 81730 3.67062E-5 40865 0 9.3668E-5
X-23724798-G-A p.Ser254Ser synonymous ACOT9 130 81624 0.00159267 40812 35 0.00620262
X-23724798-G-T p.Ser254Arg missense ACOT9 1 81626 1.2251E-5 40813 0 NA
X-23724806-C-A p.Ala252Ser missense ACOT9 2 81636 2.4499E-5 40818 0 4.64943E-5
X-23724819-C-T p.Ser247Ser synonymous ACOT9 1 81410 1.22835E-5 40705 0 NA
X-23724820-G-A p.Ser247Leu missense ACOT9 1 81334 1.2295E-5 40667 0 1.11972E-5
X-23724822-C-G p.Thr246Thr synonymous ACOT9 1 81322 1.22968E-5 40661 0 NA
X-23724823-G-A p.Thr246Met missense ACOT9 17 81270 2.09179E-4 40635 5 6.87758E-4
X-23724826-G-C p.Ser245Cys missense ACOT9 3 81276 3.69113E-5 40638 1 1.15439E-5
X-23724828-G-A p.Ser244Ser synonymous ACOT9 87 81208 0.00107132 40604 17 0.00269154
X-23724837-A-C p.Ile241Met missense ACOT9 1 80764 1.23818E-5 40382 0 NA
X-23724855-C-T p.Leu235Leu splice_region+synonymous ACOT9 2 79052 2.52998E-5 39526 0 NA
X-23724860-G-A c.704-4C>T splice_region ACOT9 6 78608 7.63281E-5 39304 1 9.46342E-5
X-23725950-A-C c.*82T>G splice_region ACOT9 9 76782 1.17215E-4 38391 3 7.02247E-4
X-23725999-C-G p.Gly233Ala missense ACOT9 5 80820 6.18659E-5 40410 2 NA
X-23726013-C-T p.Glu228Glu synonymous ACOT9 6 81230 7.38643E-5 40615 2 9.21065E-5
X-23726016-C-T p.Glu227Glu synonymous ACOT9 2 81266 2.46105E-5 40633 1 NA
X-23726040-GA-G p.Leu219fs frameshift ACOT9 1 81276 1.23038E-5 40638 0 5.65355E-6
X-23726044-G-A p.Pro218Leu missense ACOT9 9 81252 1.10767E-4 40626 3 2.32547E-4
X-23726045-G-C p.Pro218Ala missense ACOT9 2 81218 2.46251E-5 40609 0 1.70244E-5
X-23726056-G-A p.Ala214Val missense ACOT9 1 81012 1.23439E-5 40506 0 NA
X-23726069-G-A c.636-8C>T splice_region ACOT9 2 80674 2.47911E-5 40337 0 6.02526E-6
X-23731254-T-G p.Lys211Asn missense+splice_region ACOT9 1 80902 1.23606E-5 40451 0 2.37029E-5
X-23731271-G-A p.Arg206Cys missense ACOT9 3 81334 3.68849E-5 40667 1 1.10679E-5
X-23731304-G-A p.Pro195Ser missense ACOT9 3 81610 3.67602E-5 40805 1 NA
X-23731315-T-C p.Asp191Gly missense ACOT9 3 81384 3.68623E-5 40692 1 NA
X-23731321-T-C p.His189Arg missense ACOT9 324 81212 0.00398956 40606 69 0.00315148
X-23731327-T-C c.562-2A>G splice_acceptor ACOT9 1 80972 1.23499E-5 40486 0 NA
X-23740004-C-T p.Met185Ile missense ACOT9 10 82066 1.21853E-4 41033 2 5.75851E-5
X-23740028-T-C p.Thr177Thr synonymous ACOT9 1 82416 1.21336E-5 41208 0 5.48564E-6
X-23740037-G-A p.Val174Val synonymous ACOT9 10 82514 1.21192E-4 41257 2 1.0964E-4
X-23740050-T-C p.His170Arg missense ACOT9 25 82552 3.02839E-4 41276 6 2.39712E-4
X-23740805-C-T p.Ala147Thr missense ACOT9 3 80410 3.73088E-5 40205 0 2.2871E-5
X-23740812-T-G p.Ile144Ile synonymous ACOT9 4 80514 4.96808E-5 40257 2 5.71252E-5
X-23740814-T-C p.Ile144Val missense ACOT9 17 80580 2.1097E-4 40290 6 0.00137646
X-23740815-C-T p.Ser143Ser synonymous ACOT9 3 80622 3.72107E-5 40311 1 2.28441E-5
X-23740830-C-A p.Lys138Asn missense ACOT9 3 80974 3.70489E-5 40487 0 NA
X-23740833-G-A p.Ala137Ala synonymous ACOT9 6 80964 7.4107E-5 40482 2 5.58809E-6
X-23740835-C-G p.Ala137Pro missense ACOT9 1 80852 1.23683E-5 40426 0 5.58747E-5
X-23740836-G-A p.Ser136Ser synonymous ACOT9 4 80850 4.94743E-5 40425 1 4.5754E-5
X-23740871-C-A c.374-1G>T splice_acceptor ACOT9 2 79544 2.51433E-5 39772 0 NA
X-23748660-A-G p.Asp119Asp synonymous ACOT9 1 81582 1.22576E-5 40791 0 NA
X-23748682-C-A c.336-1G>T splice_acceptor ACOT9 1 81468 1.22748E-5 40734 0 5.5014E-6
X-23748927-T-C c.335+6A>G splice_region ACOT9 2 82492 2.42448E-5 41246 0 2.49856E-5
X-23748937-C-T p.Val111Ile missense ACOT9 13 82624 1.57339E-4 41312 3 0.00207182
X-23748938-G-A p.Thr110Thr synonymous ACOT9 6 82630 7.26128E-5 41315 3 4.8367E-5
X-23748949-C-A p.Val107Phe missense ACOT9 1 82814 1.20753E-5 41407 0 NA
X-23748966-C-T p.Arg101Gln missense ACOT9 5 82914 6.03034E-5 41457 1 4.50938E-5
X-23748972-T-C p.Glu99Gly missense ACOT9 155 82956 0.00186846 41478 33 0.00345304
X-23748981-C-G p.Ser96Thr missense ACOT9 1 82974 1.2052E-5 41487 0 5.53009E-6
X-23748995-G-A p.Leu91Leu synonymous ACOT9 10 83000 1.20482E-4 41500 1 4.94604E-4
X-23749007-A-G p.Tyr87Tyr synonymous ACOT9 1 83018 1.20456E-5 41509 0 NA
X-23749010-A-G p.Ser86Ser synonymous ACOT9 5 83012 6.02323E-5 41506 2 NA
X-23749016-C-T p.Lys84Lys synonymous ACOT9 1 82978 1.20514E-5 41489 0 4.52182E-5
X-23749036-G-A p.Leu78Leu synonymous ACOT9 1 82934 1.20578E-5 41467 0 NA
X-23749037-T-C p.Gly77Gly synonymous ACOT9 2 82928 2.41173E-5 41464 0 2.18811E-5
X-23749048-A-G p.Ser74Pro missense ACOT9 2 82898 2.4126E-5 41449 1 1.82838E-4
X-23749058-G-A p.Phe70Phe synonymous ACOT9 1 82848 1.20703E-5 41424 0 NA
X-23749079-T-C p.Glu63Glu synonymous ACOT9 3 82622 3.63099E-5 41311 1 2.31924E-5
X-23749080-T-C p.Glu63Gly missense ACOT9 100 82564 0.00121118 41282 20 0.0014105
X-23749084-C-T p.Glu62Lys missense ACOT9 1 82524 1.21177E-5 41262 0 NA
X-23749096-C-T p.Val58Met missense ACOT9 1 82216 1.21631E-5 41108 0 NA
X-23749100-G-T p.Asp56Glu missense ACOT9 2 82088 2.43641E-5 41044 1 NA
X-23749109-AAG-A c.165-8_165-7delCT splice_region ACOT9 1 81678 1.22432E-5 40839 0 NA
X-23751282-T-C c.164+7A>G splice_region ACOT9 3 81514 3.68035E-5 40757 1 4.56204E-5
X-23751289-C-T p.Arg55Lys missense+splice_region ACOT9 4 81700 4.89596E-5 40850 1 NA
X-23751324-C-T p.Lys43Lys synonymous ACOT9 1 81784 1.22273E-5 40892 0 NA
X-23751332-G-A p.Arg41* stop_gained ACOT9 2 81498 2.45405E-5 40749 1 4.59137E-5
X-23752457-C-T c.145+1G>A splice_donor ACOT9 7 80662 8.67819E-5 40331 3 5.76548E-5
X-23752457-CCAT-C p.His48_Val49delinsLeu disruptive_inframe_deletion ACOT9 1 80664 1.23971E-5 40332 0 NA
X-23752471-T-C p.Ile44Met missense ACOT9 2 80772 2.47611E-5 40386 1 4.76477E-5
X-23752481-C-T p.Cys41Tyr missense ACOT9 2 80476 2.48521E-5 40238 1 NA
X-23752491-GAATA-G c.119-11_119-8delTATT splice_region ACOT9 4 80240 4.98504E-5 40120 2 NA
X-23754005-C-T c.*8G>A splice_region ACOT9 2 81612 2.45062E-5 40806 1 2.35502E-5
X-23754013-TCAAA-T p.Val46fs frameshift ACOT9 4 82036 4.87591E-5 41018 1 4.53248E-5
X-23754017-A-G p.Val46Ala missense ACOT9 5 82174 6.08465E-5 41087 0 1.81645E-4
X-23754026-C-A p.Gly43Val missense ACOT9 9 82408 1.09213E-4 41204 1 1.38956E-4
X-23754026-C-G p.Gly43Ala missense ACOT9 1 82408 1.21347E-5 41204 0 1.15797E-5
X-23754027-C-T p.Gly43Ser missense ACOT9 2 82408 2.42695E-5 41204 1 NA
X-23754031-C-T c.118+5G>A splice_region ACOT9 1 82508 1.212E-5 41254 0 NA
X-23754045-T-A p.Ile37Phe missense ACOT9 5 82694 6.04639E-5 41347 2 NA
X-23754049-G-T p.Phe35Leu missense ACOT9 2 82712 2.41803E-5 41356 0 1.36444E-4
X-23754052-G-A p.Ile34Ile synonymous ACOT9 2 82750 2.41692E-5 41375 1 4.54814E-5
X-23754078-G-A p.Pro26Ser missense ACOT9 2 82844 2.41418E-5 41422 0 4.592E-5
X-23754107-A-T p.Leu16His missense ACOT9 3 82712 3.62704E-5 41356 1 NA
X-23754116-T-C p.Lys13Arg missense ACOT9 12 82430 1.45578E-4 41215 2 0.00145499
X-23754119-C-T p.Gly12Asp missense ACOT9 2 82382 2.42771E-5 41191 1 5.58656E-6
X-23754121-CA-C p.Leu11fs frameshift ACOT9 2 82310 2.42984E-5 41155 1 NA
X-23754123-A-G c.-150T>C 5_prime_UTR_premature_start_codon_gain ACOT9 1 82270 1.21551E-5 41135 0 NA
X-23754124-G-T p.Ala10Ala synonymous ACOT9 1 82220 1.21625E-5 41110 0 NA
X-23761276-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain ACOT9 3 68308 4.39187E-5 34154 1 NA
X-23761284-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain ACOT9 1 67272 1.4865E-5 33636 0 NA
X-23761295-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain ACOT9 1 65634 1.5236E-5 32817 0 1.02291E-4
X-23761382-G-C c.-121C>G 5_prime_UTR_premature_start_codon_gain ACOT9 2 40668 4.91787E-5 20334 0 4.53309E-5
X-23784468-C-A c.-1294G>T 5_prime_UTR_premature_start_codon_gain ACOT9 2 4 0.5 2 1 0.443473