Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-62492694-C-T c.-200C>T 5_prime_UTR_premature_start_codon_gain ABHD16B 8 37080 2.1575E-4 18540 0 5.10465E-4
20-62492813-C-T c.-81C>T 5_prime_UTR_premature_start_codon_gain ABHD16B 16 75592 2.11663E-4 37796 0 6.37511E-5
20-62492850-C-T c.-44C>T 5_prime_UTR_premature_start_codon_gain ABHD16B 1 77902 1.28366E-5 38951 0 NA
20-62492861-C-T c.-33C>T 5_prime_UTR_premature_start_codon_gain ABHD16B 3 78472 3.82302E-5 39236 0 6.22123E-5
20-62492881-A-G c.-13A>G 5_prime_UTR_premature_start_codon_gain ABHD16B 2 79290 2.52239E-5 39645 0 6.67343E-6
20-62492885-C-CCACCGCTCATGTGCGT p.Ile4fs frameshift ABHD16B 1 79340 1.2604E-5 39670 0 1.32196E-5
20-62492894-A-C p.Met1? initiator_codon ABHD16B 1 79770 1.2536E-5 39885 0 NA
20-62492895-T-C p.Met1? start_lost ABHD16B 1 79792 1.25326E-5 39896 0 8.87446E-5
20-62492896-G-A p.Met1? start_lost ABHD16B 1 79816 1.25288E-5 39908 0 5.43596E-5
20-62492897-T-G p.Cys2Gly missense ABHD16B 1 79850 1.25235E-5 39925 0 NA
20-62492899-C-T p.Cys2Cys synonymous ABHD16B 1 79864 1.25213E-5 39932 0 NA
20-62492900-G-A p.Val3Ile missense ABHD16B 2 79904 2.503E-5 39952 0 1.85268E-5
20-62492903-A-C p.Ile4Leu missense ABHD16B 1 80018 1.24972E-5 40009 0 NA
20-62492912-G-A p.Val7Met missense ABHD16B 34 80090 4.24522E-4 40045 0 0.00571726
20-62492920-G-A p.Ala9Ala synonymous ABHD16B 2 80158 2.49507E-5 40079 0 NA
20-62492921-C-T p.Leu10Leu synonymous ABHD16B 7 80188 8.72949E-5 40094 0 2.8732E-4
20-62492922-T-A p.Leu10Gln missense ABHD16B 5363 80066 0.0669822 40033 217 0.123106
20-62492927-C-T p.Arg12Cys missense ABHD16B 5 80130 6.23986E-5 40065 0 6.38692E-5
20-62492928-G-A p.Arg12His missense ABHD16B 5 80110 6.24142E-5 40055 0 0.00104384
20-62492944-C-T p.Tyr17Tyr synonymous ABHD16B 1 80184 1.24713E-5 40092 0 NA
20-62492982-C-T p.Pro30Leu missense ABHD16B 1 79168 1.26314E-5 39584 0 9.60246E-5
20-62492983-C-A p.Pro30Pro synonymous ABHD16B 1 79150 1.26342E-5 39575 0 NA
20-62492984-G-A p.Val31Met missense ABHD16B 31 79154 3.91642E-4 39577 0 9.60553E-4
20-62492994-G-T p.Arg34Leu missense ABHD16B 1 78678 1.271E-5 39339 0 NA
20-62493001-TG-T p.Asp37fs frameshift ABHD16B 1 78434 1.27496E-5 39217 0 NA
20-62493005-G-A p.Val38Met missense ABHD16B 5 78040 6.40697E-5 39020 0 1.29685E-4
20-62493009-G-A p.Arg39His missense ABHD16B 1 77674 1.28743E-5 38837 0 NA
20-62493011-G-A p.Ala40Thr missense ABHD16B 2 77454 2.58218E-5 38727 0 1.42365E-5
20-62493018-G-C p.Gly42Ala missense ABHD16B 1 77096 1.29708E-5 38548 0 9.67867E-5
20-62493020-C-T p.Arg43Trp missense ABHD16B 8 76960 1.0395E-4 38480 0 1.29057E-4
20-62493020-CGG-C p.Arg43fs frameshift ABHD16B 1 76960 1.29938E-5 38480 0 NA
20-62493021-G-A p.Arg43Gln missense ABHD16B 1 76920 1.30005E-5 38460 0 7.32032E-6
20-62493022-G-A p.Arg43Arg synonymous ABHD16B 1 76872 1.30086E-5 38436 0 NA
20-62493022-G-C p.Arg43Arg synonymous ABHD16B 10 76872 1.30086E-4 38436 0 1.93486E-4
20-62493023-A-ACCCC p.Ser44fs frameshift ABHD16B 1 76806 1.30198E-5 38403 0 NA
20-62493024-G-GCC p.Ser45fs frameshift ABHD16B 1 76736 1.30317E-5 38368 0 NA
20-62493028-C-T p.Ser45Ser synonymous ABHD16B 1 76548 1.30637E-5 38274 0 NA
20-62493029-A-G p.Ser46Gly missense ABHD16B 68 76462 8.89331E-4 38231 0 0.00279642
20-62493033-A-G p.His47Arg missense ABHD16B 1 76050 1.31492E-5 38025 0 7.59255E-6
20-62493035-C-G p.Arg48Gly missense ABHD16B 1 75874 1.31797E-5 37937 0 NA
20-62493035-C-T p.Arg48Trp missense ABHD16B 5 75874 6.58987E-5 37937 0 6.26566E-4
20-62493036-G-A p.Arg48Gln missense ABHD16B 71 75732 9.37517E-4 37866 0 0.00395928
20-62493044-A-G p.Thr51Ala missense ABHD16B 3 74894 4.00566E-5 37447 0 6.49098E-5
20-62493048-G-A p.Cys52Tyr missense ABHD16B 1 74428 1.34358E-5 37214 0 NA
20-62493051-C-T p.Ala53Val missense ABHD16B 1 73916 1.35289E-5 36958 0 NA
20-62493060-CGGCGGGCGT-C p.Ala57_Val59del conservative_inframe_deletion ABHD16B 2 72814 2.74672E-5 36407 0 7.9694E-4
20-62493063-C-T p.Ala57Val missense ABHD16B 8 72570 1.10238E-4 36285 0 0.00263158
20-62493068-G-A p.Val59Met missense ABHD16B 2 72278 2.76709E-5 36139 0 6.53808E-5
20-62493070-G-T p.Val59Val synonymous ABHD16B 1 72256 1.38397E-5 36128 0 NA
20-62493080-C-T p.Arg63Trp missense ABHD16B 3 71872 4.17409E-5 35936 0 NA
20-62493083-G-C p.Asp64His missense ABHD16B 2 71790 2.7859E-5 35895 0 NA
20-62493083-G-A p.Asp64Asn missense ABHD16B 2 71790 2.7859E-5 35895 0 NA
20-62493093-T-C p.Leu67Pro missense ABHD16B 2 70908 2.82056E-5 35454 0 NA
20-62493094-G-T p.Leu67Leu synonymous ABHD16B 1 70938 1.40968E-5 35469 0 NA
20-62493098-G-A p.Gly69Arg missense ABHD16B 18 70556 2.55116E-4 35278 0 0.00420757
20-62493101-G-T p.Asp70Tyr missense ABHD16B 2 70434 2.83954E-5 35217 0 5.65131E-5
20-62493102-A-T p.Asp70Val missense ABHD16B 1 70286 1.42276E-5 35143 0 NA
20-62493114-G-A p.Arg74Gln missense ABHD16B 1 68846 1.45252E-5 34423 0 0.00102599
20-62493121-A-G p.Pro76Pro synonymous ABHD16B 3 68410 4.38532E-5 34205 0 NA
20-62493129-C-T p.Ala79Val missense ABHD16B 1 67382 1.48408E-5 33691 0 6.28141E-4
20-62493130-G-A p.Ala79Ala synonymous ABHD16B 1 67188 1.48836E-5 33594 0 NA
20-62493130-G-C p.Ala79Ala synonymous ABHD16B 1 67188 1.48836E-5 33594 0 3.09789E-4
20-62493132-G-A p.Arg80His missense ABHD16B 1 66928 1.49414E-5 33464 0 NA
20-62493145-G-A p.Gln84Gln synonymous ABHD16B 30 65796 4.55955E-4 32898 0 0.00138085
20-62493155-C-G p.Gln88Glu missense ABHD16B 1 64908 1.54064E-5 32454 0 2.23629E-5
20-62493166-C-T p.Arg91Arg synonymous ABHD16B 1 62314 1.60478E-5 31157 0 NA
20-62493166-C-G p.Arg91Arg synonymous ABHD16B 2 62314 3.20955E-5 31157 0 NA
20-62493167-G-T p.Glu92* stop_gained ABHD16B 2 62216 3.21461E-5 31108 0 NA
20-62493175-C-CGGCCAGCTCGCTAGCTACGCGCT p.His104fs frameshift ABHD16B 517 60858 0.00849519 30429 5 0.0104847
20-62493175-CGGCCAGCTCGCTAGCTACGCGCT-C p.Gln96fs frameshift ABHD16B 1 61026 1.63865E-5 30513 0 NA
20-62493176-G-T p.Gly95Cys missense ABHD16B 1 60882 1.64252E-5 30441 0 1.6835E-5
20-62493177-G-C p.Gly95Ala missense ABHD16B 1 60672 1.64821E-5 30336 0 NA
20-62493198-T-C p.Leu102Pro missense ABHD16B 26 57376 4.53151E-4 28688 0 5.15464E-4
20-62493201-C-T p.Ala103Val missense ABHD16B 2 56800 3.52113E-5 28400 0 NA
20-62493208-G-C p.Ser105Ser synonymous ABHD16B 5 55350 9.03342E-5 27675 0 5.73394E-4
20-62493212-G-A p.Gly107Ser missense ABHD16B 1 54766 1.82595E-5 27383 0 NA
20-62493223-C-T p.Leu110Leu synonymous ABHD16B 1 53190 1.88005E-5 26595 0 3.47705E-5
20-62493224-G-A p.Val111Met missense ABHD16B 15 53054 2.82731E-4 26527 0 0.00101553
20-62493232-C-G p.Pro113Pro synonymous ABHD16B 1 52352 1.91015E-5 26176 0 2.70285E-5
20-62493238-C-T p.Ser115Ser synonymous ABHD16B 22 51252 4.29252E-4 25626 0 0.00140431
20-62493249-T-A p.Met119Lys missense ABHD16B 2 50566 3.95523E-5 25283 0 2.92512E-4
20-62493252-C-A p.Thr120Lys missense ABHD16B 2 49878 4.00978E-5 24939 0 3.25415E-5
20-62493255-G-A p.Arg121His missense ABHD16B 3 49152 6.10352E-5 24576 0 1.52504E-5
20-62493257-GCGCTGCTGC-G p.Pro125_Leu127del disruptive_inframe_deletion ABHD16B 2 48890 4.09082E-5 24445 0 NA
20-62493258-C-T p.Ala122Val missense ABHD16B 2 48832 4.09568E-5 24416 0 NA
20-62493266-C-T p.Pro125Ser missense ABHD16B 7 48702 1.43731E-4 24351 0 8.36244E-4
20-62493268-G-A p.Pro125Pro synonymous ABHD16B 1 48344 2.06851E-5 24172 0 NA
20-62493281-G-A p.Gly130Ser missense ABHD16B 1 48714 2.0528E-5 24357 0 6.25E-4
20-62493282-G-A p.Gly130Asp missense ABHD16B 2 48636 4.11218E-5 24318 0 NA
20-62493303-G-A p.Arg137His missense ABHD16B 2 48472 4.12609E-5 24236 0 6.51721E-5
20-62493311-G-A p.Gly140Ser missense ABHD16B 1 49086 2.03724E-5 24543 0 3.26627E-5
20-62493340-C-T p.Asp149Asp synonymous ABHD16B 1 50878 1.96549E-5 25439 0 3.38868E-5
20-62493352-C-T p.Ile153Ile synonymous ABHD16B 1 53974 1.85274E-5 26987 0 NA
20-62493353-G-A p.Asp154Asn missense ABHD16B 2 54104 3.69658E-5 27052 0 3.33667E-5
20-62493357-C-T p.Thr155Ile missense ABHD16B 3 55378 5.41731E-5 27689 0 6.48424E-5
20-62493371-C-T p.Arg160Cys missense ABHD16B 299 57148 0.00523203 28574 3 0.0122403
20-62493374-C-T p.Arg161Cys missense ABHD16B 2 57746 3.46344E-5 28873 0 1.70838E-5
20-62493384-C-T p.Pro164Leu missense ABHD16B 420 59492 0.00705977 29746 7 0.0212121
20-62493395-G-A p.Val168Met missense ABHD16B 1 61138 1.63564E-5 30569 0 1.26331E-5
20-62493400-C-T p.His169His synonymous ABHD16B 1 61840 1.61708E-5 30920 0 9.25684E-5
20-62493405-C-T p.Pro171Leu missense ABHD16B 1 63140 1.58378E-5 31570 0 8.94358E-6
20-62493407-C-T p.Arg172Cys missense ABHD16B 2 63692 3.14011E-5 31846 0 8.92634E-6
20-62493412-C-A p.Leu173Leu synonymous ABHD16B 2 65550 3.05111E-5 32775 0 1.65637E-5
20-62493421-C-T p.Cys176Cys synonymous ABHD16B 2 67606 2.95832E-5 33803 0 8.8397E-6
20-62493422-T-C p.Cys177Arg missense ABHD16B 1 67724 1.47658E-5 33862 0 NA
20-62493445-C-T p.Tyr184Tyr synonymous ABHD16B 4 71470 5.59675E-5 35735 0 1.55562E-4
20-62493450-T-C p.Met186Thr missense ABHD16B 3 72364 4.14571E-5 36182 0 NA
20-62493453-GCTGT-G p.Ser190fs frameshift ABHD16B 2 72554 2.75657E-5 36277 0 6.39264E-5
20-62493457-T-G p.Cys188Trp missense ABHD16B 1 72948 1.37084E-5 36474 0 NA
20-62493466-A-C p.Ala191Ala synonymous ABHD16B 2 73446 2.72309E-5 36723 0 NA
20-62493468-C-T p.Pro192Leu missense ABHD16B 5 73590 6.7944E-5 36795 0 6.38651E-5
20-62493486-C-G p.Ser198Cys missense ABHD16B 2 75224 2.65873E-5 37612 0 3.55114E-5
20-62493488-G-A p.Val199Met missense ABHD16B 1 75216 1.3295E-5 37608 0 3.55473E-5
20-62493489-T-A p.Val199Glu missense ABHD16B 1 75416 1.32598E-5 37708 0 NA
20-62493503-C-T p.His204Tyr missense ABHD16B 3 75946 3.95018E-5 37973 0 4.11123E-6
20-62493521-A-T p.Ser210Cys missense ABHD16B 1 76448 1.30808E-5 38224 0 NA
20-62493524-A-G p.Thr211Ala missense ABHD16B 1 76480 1.30753E-5 38240 0 NA
20-62493527-G-A p.Gly212Ser missense ABHD16B 2 76478 2.61513E-5 38239 0 8.86729E-6
20-62493530-G-A p.Val213Met missense ABHD16B 5 76504 6.53561E-5 38252 0 1.59581E-4
20-62493542-C-G p.Gln217Glu missense ABHD16B 4 76882 5.20278E-5 38441 0 NA
20-62493543-A-T p.Gln217Leu missense ABHD16B 1 76788 1.30229E-5 38394 0 NA
20-62493561-T-C p.Met223Thr missense ABHD16B 2 77474 2.58151E-5 38737 0 8.80406E-6
20-62493563-G-A p.Asp224Asn missense ABHD16B 2 77414 2.58351E-5 38707 0 5.05561E-4
20-62493565-C-T p.Asp224Asp synonymous ABHD16B 1 77348 1.29286E-5 38674 0 8.8115E-6
20-62493567-T-G p.Val225Gly missense ABHD16B 3 77464 3.87277E-5 38732 0 1.22446E-5
20-62493572-G-A p.Val227Ile missense ABHD16B 1 77530 1.28982E-5 38765 0 NA
20-62493574-C-T p.Val227Val synonymous ABHD16B 4 77476 5.16289E-5 38738 0 2.04322E-5
20-62493575-G-A p.Glu228Lys missense ABHD16B 26 77640 3.34879E-4 38820 0 6.70113E-4
20-62493580-C-A p.Tyr229* stop_gained ABHD16B 2 78030 2.56312E-5 39015 0 3.26688E-5
20-62493580-C-T p.Tyr229Tyr synonymous ABHD16B 2 78030 2.56312E-5 39015 0 3.19101E-5
20-62493585-T-C p.Leu231Pro missense ABHD16B 1 78326 1.27672E-5 39163 0 NA
20-62493585-T-TGCACCGCCTGCAC p.Phe236fs frameshift ABHD16B 1 78326 1.27672E-5 39163 0 NA
20-62493587-C-G p.His232Asp missense ABHD16B 1 78318 1.27685E-5 39159 0 1.22393E-5
20-62493598-C-T p.His235His synonymous ABHD16B 1 79186 1.26285E-5 39593 0 NA
20-62493604-G-A p.Pro237Pro synonymous ABHD16B 3 79234 3.78625E-5 39617 0 1.62974E-5
20-62493607-C-T p.Pro238Pro synonymous ABHD16B 2 79700 2.50941E-5 39850 0 8.1416E-6
20-62493618-T-C p.Val242Ala missense ABHD16B 2 80276 2.4914E-5 40138 0 6.37877E-5
20-62493623-T-C p.Tyr244His missense ABHD16B 1 80430 1.24332E-5 40215 0 NA
20-62493626-G-C p.Gly245Arg missense ABHD16B 2 80476 2.48521E-5 40238 0 3.19E-5
20-62493626-G-A p.Gly245Ser missense ABHD16B 1 80476 1.24261E-5 40238 0 4.09125E-6
20-62493635-G-A p.Val248Ile missense ABHD16B 1 80220 1.24657E-5 40110 0 NA
20-62493641-G-A p.Gly250Ser missense ABHD16B 2 80198 2.49383E-5 40099 0 5.05051E-4
20-62493642-G-A p.Gly250Asp missense ABHD16B 3 80316 3.73525E-5 40158 0 8.32393E-5
20-62493646-C-T p.Phe251Phe synonymous ABHD16B 2 80250 2.49221E-5 40125 0 9.23685E-6
20-62493649-G-A p.Thr252Thr synonymous ABHD16B 8 80150 9.98129E-5 40075 0 6.3804E-5
20-62493658-G-A p.Trp255* stop_gained ABHD16B 12 80678 1.48739E-4 40339 0 2.1163E-4
20-62493659-G-A p.Ala256Thr missense ABHD16B 3 80714 3.71683E-5 40357 0 3.18837E-5
20-62493676-G-A p.Pro261Pro synonymous ABHD16B 4 81040 4.93583E-5 40520 0 3.18776E-5
20-62493700-C-G p.Asp269Glu missense ABHD16B 10 81248 1.2308E-4 40624 0 5.69722E-5
20-62493710-G-A p.Asp273Asn missense ABHD16B 2 81100 2.46609E-5 40550 0 0.00101112
20-62493721-G-A p.Val276Val synonymous ABHD16B 1 80942 1.23545E-5 40471 0 1.18256E-5
20-62493730-G-A p.Ala279Ala synonymous ABHD16B 1 80740 1.23854E-5 40370 0 3.18613E-5
20-62493733-G-T p.Leu280Leu synonymous ABHD16B 2 80762 2.47641E-5 40381 0 NA
20-62493736-G-C p.Lys281Asn missense ABHD16B 2 80726 2.47752E-5 40363 0 NA
20-62493737-G-C p.Val282Leu missense ABHD16B 4 80702 4.95651E-5 40351 0 4.10509E-5
20-62493770-C-T p.Arg293Cys missense ABHD16B 2 80090 2.49719E-5 40045 0 6.33526E-5
20-62493771-G-A p.Arg293His missense ABHD16B 4 80088 4.99451E-5 40044 0 0.00202429
20-62493779-C-T p.Arg296Cys missense ABHD16B 1 80004 1.24994E-5 40002 0 NA
20-62493779-C-A p.Arg296Ser missense ABHD16B 1 80004 1.24994E-5 40002 0 6.25E-4
20-62493780-G-A p.Arg296His missense ABHD16B 1 79990 1.25016E-5 39995 0 5.15895E-6
20-62493781-C-T p.Arg296Arg synonymous ABHD16B 2 79996 2.50013E-5 39998 0 9.62186E-5
20-62493787-C-T p.His298His synonymous ABHD16B 1 79982 1.25028E-5 39991 0 5.23977E-6
20-62493787-C-G p.His298Gln missense ABHD16B 1 79982 1.25028E-5 39991 0 2.09591E-5
20-62493792-A-G p.Asn300Ser missense ABHD16B 4 79870 5.00814E-5 39935 0 0.00252781
20-62493794-C-T p.Leu301Phe missense ABHD16B 1 79866 1.2521E-5 39933 0 NA
20-62493804-C-A p.Ala304Asp missense ABHD16B 1 79534 1.25732E-5 39767 0 3.36508E-5
20-62493806-G-A p.Glu305Lys missense ABHD16B 1 79490 1.25802E-5 39745 0 NA
20-62493806-G-C p.Glu305Gln missense ABHD16B 1 79490 1.25802E-5 39745 0 3.07844E-5
20-62493807-A-C p.Glu305Ala missense ABHD16B 2 79486 2.51617E-5 39743 0 NA
20-62493816-G-A p.Cys308Tyr missense ABHD16B 4 79280 5.04541E-5 39640 0 3.21357E-5
20-62493820-C-T p.Cys309Cys synonymous ABHD16B 1 79248 1.26186E-5 39624 0 NA
20-62493825-C-T p.Pro311Leu missense ABHD16B 2 79072 2.52934E-5 39536 0 1.01999E-4
20-62493825-CG-C p.Pro313fs frameshift ABHD16B 4 79072 5.05868E-5 39536 0 NA
20-62493826-G-A p.Pro311Pro synonymous ABHD16B 4 79034 5.06111E-5 39517 0 2.89801E-5
20-62493836-C-T p.Leu315Leu synonymous ABHD16B 1 78918 1.26714E-5 39459 0 0.00101729
20-62493838-G-A p.Leu315Leu synonymous ABHD16B 2 78912 2.53447E-5 39456 0 3.18674E-5
20-62493840-T-G p.Leu316Arg missense ABHD16B 1 78930 1.26695E-5 39465 0 3.49382E-5
20-62493840-T-C p.Leu316Pro missense ABHD16B 1 78930 1.26695E-5 39465 0 NA
20-62493846-G-A p.Arg318Gln missense ABHD16B 2 78778 2.53878E-5 39389 0 NA
20-62493852-C-T p.Thr320Met missense ABHD16B 3 78674 3.8132E-5 39337 0 5.66669E-6
20-62493855-A-G p.Gln321Arg missense ABHD16B 12 78606 1.5266E-4 39303 0 0.00203046
20-62493861-A-AC p.Val324fs frameshift ABHD16B 1 78470 1.27437E-5 39235 0 NA
20-62493861-A-C p.Asp323Ala missense ABHD16B 1 78470 1.27437E-5 39235 0 NA
20-62493863-G-T p.Val324Leu missense ABHD16B 1 78438 1.27489E-5 39219 0 3.5241E-5
20-62493863-G-A p.Val324Met missense ABHD16B 1 78438 1.27489E-5 39219 0 NA
20-62493864-T-C p.Val324Ala missense ABHD16B 2 78482 2.54836E-5 39241 0 NA
20-62493865-G-A p.Val324Val synonymous ABHD16B 249 78430 0.00317481 39215 3 0.00732904
20-62493871-C-T p.Ser326Ser synonymous ABHD16B 7 78326 8.93701E-5 39163 0 3.51617E-4
20-62493871-C-A p.Ser326Arg missense ABHD16B 1 78328 1.27668E-5 39164 0 NA
20-62493872-A-C p.Thr327Pro missense ABHD16B 1 78250 1.27796E-5 39125 0 1.09658E-5
20-62493876-C-T p.Ser328Leu missense ABHD16B 3 78092 3.84162E-5 39046 0 3.51964E-5
20-62493876-C-A p.Ser328* stop_gained ABHD16B 1 78092 1.28054E-5 39046 0 7.03928E-5
20-62493877-G-C p.Ser328Ser synonymous ABHD16B 4 78042 5.12545E-5 39021 0 3.50361E-5
20-62493888-G-A p.Arg332His missense ABHD16B 1 77436 1.29139E-5 38718 0 NA
20-62493892-CCT-C p.Leu334fs frameshift ABHD16B 7 77680 9.01133E-5 38840 0 1.69022E-4
20-62493893-CT-C p.Leu334fs frameshift ABHD16B 1 77692 1.28713E-5 38846 0 3.38685E-5
20-62493904-T-C p.Gly337Gly synonymous ABHD16B 796 77242 0.0103053 38621 17 0.0225708
20-62493911-G-A p.Glu340Lys missense ABHD16B 1 76934 1.29982E-5 38467 0 6.71727E-5
20-62493914-G-A p.Gly341Ser missense ABHD16B 3 76744 3.9091E-5 38372 0 2.39447E-4
20-62493924-G-A p.Gly344Asp missense ABHD16B 3 75984 3.9482E-5 37992 0 5.51675E-6
20-62493928-T-C p.Asn345Asn synonymous ABHD16B 5 75912 6.58657E-5 37956 0 3.1902E-5
20-62493940-G-A p.Leu349Leu synonymous ABHD16B 1 74910 1.33494E-5 37455 0 0.00102354
20-62493942-G-A p.Arg350His missense ABHD16B 2 74614 2.68046E-5 37307 0 3.87958E-5
20-62493952-G-A p.Glu353Glu synonymous ABHD16B 1 74004 1.35128E-5 37002 0 NA
20-62493953-C-T p.His354Tyr missense ABHD16B 1 73980 1.35172E-5 36990 0 6.12828E-6
20-62493956-C-A p.Arg355Ser missense ABHD16B 1 73796 1.35509E-5 36898 0 0.0020555
20-62493961-C-T p.Tyr356Tyr synonymous ABHD16B 1 73640 1.35796E-5 36820 0 NA
20-62493964-C-A p.Pro357Pro synonymous ABHD16B 1 73492 1.36069E-5 36746 0 0.00257467
20-62493968-G-T p.Val359Leu missense ABHD16B 1 73268 1.36485E-5 36634 0 3.18857E-5
20-62493968-G-A p.Val359Met missense ABHD16B 1 73268 1.36485E-5 36634 0 6.64575E-6
20-62493972-T-C p.Met360Thr missense ABHD16B 1 73080 1.36836E-5 36540 0 NA
20-62493977-C-T p.Arg362* stop_gained ABHD16B 6 72378 8.28981E-5 36189 0 NA
20-62493977-C-A p.Arg362Arg synonymous ABHD16B 7 72378 9.67145E-5 36189 0 2.233E-4
20-62493978-G-A p.Arg362Gln missense ABHD16B 4753 72284 0.0657545 36142 199 0.105415
20-62493989-G-C p.Ala366Pro missense ABHD16B 1 71716 1.39439E-5 35858 0 NA
20-62493995-G-A p.Val368Ile missense ABHD16B 1 71644 1.39579E-5 35822 0 NA
20-62493996-T-C p.Val368Ala missense ABHD16B 1 71720 1.39431E-5 35860 0 NA
20-62494001-C-A p.Arg370Ser missense ABHD16B 189 71796 0.00263246 35898 1 0.00417676
20-62494001-C-T p.Arg370Cys missense ABHD16B 2 71806 2.78528E-5 35903 0 1.45163E-5
20-62494006-G-A p.Trp371* stop_gained ABHD16B 1 71684 1.39501E-5 35842 0 NA
20-62494007-C-A p.Leu372Met missense ABHD16B 2 71712 2.78893E-5 35856 0 NA
20-62494008-T-C p.Leu372Pro missense ABHD16B 3 71756 4.18084E-5 35878 0 1.45313E-5
20-62494026-C-T p.Ala378Val missense ABHD16B 3 71938 4.17026E-5 35969 0 7.27167E-5
20-62494027-G-C p.Ala378Ala synonymous ABHD16B 4905 71868 0.0682501 35934 199 0.098125
20-62494030-G-A p.Gln379Gln synonymous ABHD16B 8 72350 1.10574E-4 36175 0 1.59408E-4
20-62494033-G-A p.Glu380Glu synonymous ABHD16B 1 72516 1.37901E-5 36258 0 NA
20-62494036-C-T p.Ala381Ala synonymous ABHD16B 14 72584 1.9288E-4 36292 0 2.552E-4
20-62494037-G-A p.Ala382Thr missense ABHD16B 1 72668 1.37612E-5 36334 0 NA
20-62494051-C-G p.Arg386Arg synonymous ABHD16B 1 74122 1.34913E-5 37061 0 7.29789E-6
20-62494055-C-G p.Arg388Gly missense ABHD16B 1 74572 1.34099E-5 37286 0 0.0011325
20-62494060-G-A p.Val389Val synonymous ABHD16B 1 75174 1.33025E-5 37587 0 7.37354E-6
20-62494064-G-A p.Glu391Lys missense ABHD16B 1 75540 1.3238E-5 37770 0 NA
20-62494067-G-C p.Asp392His missense ABHD16B 1 75888 1.31773E-5 37944 0 NA
20-62494071-G-A p.Trp393* stop_gained ABHD16B 1 76028 1.3153E-5 38014 0 1.68716E-4
20-62494080-C-T p.Ala396Val missense ABHD16B 2 76320 2.62055E-5 38160 0 7.397E-6
20-62494090-C-T p.Arg399Arg synonymous ABHD16B 1 76916 1.30012E-5 38458 0 2.20378E-5
20-62494108-C-T p.Cys405Cys synonymous ABHD16B 1 77426 1.29156E-5 38713 0 7.65697E-5
20-62494109-G-A p.Glu406Lys missense ABHD16B 1 77492 1.29046E-5 38746 0 3.18796E-5
20-62494117-G-C p.Glu408Asp missense ABHD16B 1 77570 1.28916E-5 38785 0 NA
20-62494126-C-T p.Gly411Gly synonymous ABHD16B 3 77498 3.87107E-5 38749 0 9.56938E-5
20-62494131-AG-A p.Ala414fs frameshift ABHD16B 2 77608 2.57705E-5 38804 0 7.2898E-6
20-62494132-G-A p.Glu413Glu synonymous ABHD16B 2 77692 2.57427E-5 38846 0 6.38162E-5
20-62494139-G-GGGCCACACGGACCCGCCTTCCCATGGCTGGTGGGCCAGGGCCTGA p.Leu430_Ser431insArgProHisGlyProAlaPheProTrpLeuValGlyGlnGlyLeu disruptive_inframe_insertion ABHD16B 2 77618 2.57672E-5 38809 0 7.22846E-6
20-62494148-G-A p.Gly419Arg missense ABHD16B 1 77572 1.28912E-5 38786 0 7.20575E-6
20-62494150-AC-A p.Ala421fs frameshift ABHD16B 9 77498 1.16132E-4 38749 0 0.00116686
20-62494154-G-A p.Ala421Thr missense ABHD16B 1 77576 1.28906E-5 38788 0 7.31743E-5
20-62494162-A-G p.Pro423Pro synonymous ABHD16B 1 77642 1.28796E-5 38821 0 NA
20-62494166-C-G p.Leu425Val missense ABHD16B 1 77588 1.28886E-5 38794 0 1.4361E-5
20-62494170-T-C p.Val426Ala missense ABHD16B 38 77506 4.90285E-4 38753 0 7.27167E-4
20-62494172-G-C p.Gly427Arg missense ABHD16B 1 77512 1.29012E-5 38756 0 NA
20-62494181-C-T p.Leu430Leu synonymous ABHD16B 1 77564 1.28926E-5 38782 0 7.26216E-5
20-62494183-G-C p.Leu430Leu synonymous ABHD16B 1 77566 1.28922E-5 38783 0 NA
20-62494189-G-C p.Ser432Ser synonymous ABHD16B 3 77444 3.87377E-5 38722 0 3.19081E-5
20-62494190-C-G p.Arg433Gly missense ABHD16B 1 77432 1.29146E-5 38716 0 NA
20-62494191-G-C p.Arg433Pro missense ABHD16B 25 77478 3.22672E-4 38739 0 0.00753475
20-62494191-G-A p.Arg433Gln missense ABHD16B 1 77478 1.29069E-5 38739 0 NA
20-62494192-G-GCGGCGC p.Arg436_Arg437dup disruptive_inframe_insertion ABHD16B 3 77498 3.87107E-5 38749 0 NA
20-62494196-C-T p.Arg435Cys missense ABHD16B 3 77404 3.87577E-5 38702 0 1.43563E-5
20-62494199-C-T p.Arg436Trp missense ABHD16B 5 77470 6.45411E-5 38735 0 2.8754E-4
20-62494200-G-A p.Arg436Gln missense ABHD16B 2 77402 2.58391E-5 38701 0 NA
20-62494210-A-G p.Ala439Ala synonymous ABHD16B 11 77706 1.41559E-4 38853 0 0.00375
20-62494213-G-A p.Leu440Leu synonymous ABHD16B 1 77826 1.28492E-5 38913 0 3.19163E-5
20-62494216-CCTGG-C p.Ala443fs frameshift ABHD16B 5 77870 6.42096E-5 38935 0 6.79412E-6
20-62494223-C-CA p.Arg444fs frameshift ABHD16B 5 77884 6.4198E-5 38942 0 6.71917E-6
20-62494224-G-A p.Arg444Gln missense ABHD16B 6 77826 7.70951E-5 38913 0 3.71637E-4
20-62494224-G-T p.Arg444Leu missense ABHD16B 16 77828 2.05582E-4 38914 0 5.20291E-4
20-62494226-A-AAC p.Lys445fs frameshift ABHD16B 5 77774 6.42888E-5 38887 0 6.72242E-6
20-62494241-G-A p.Val450Met missense ABHD16B 11 78010 1.41008E-4 39005 0 0.00109512
20-62494249-G-C p.Ala452Ala synonymous ABHD16B 1 77986 1.28228E-5 38993 0 6.64487E-6
20-62494254-AC-A p.Phe455fs frameshift ABHD16B 1 78080 1.28074E-5 39040 0 NA
20-62494266-T-C p.Leu458Pro missense ABHD16B 1 78050 1.28123E-5 39025 0 8.55725E-5
20-62494268-G-C p.Glu459Gln missense ABHD16B 1 78014 1.28182E-5 39007 0 7.85756E-6
20-62494272-C-T p.Pro460Leu missense ABHD16B 1 78006 1.28195E-5 39003 0 8.93336E-5
20-62494286-T-C p.Leu465Leu synonymous ABHD16B 8 77730 1.0292E-4 38865 0 1.04559E-4
20-62494295-C-A p.Arg468Arg synonymous ABHD16B 15 77560 1.93399E-4 38780 0 0.0036157
20-62494295-C-T p.Arg468Trp missense ABHD16B 1 77560 1.28932E-5 38780 0 3.71839E-4