Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-32254442-A-G c.-862A>G 5_prime_UTR_premature_start_codon_gain ACTL10 5 3414 0.00146456 1707 0 0.0058595
20-32254567-G-T c.-737G>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 13842 7.22439E-5 6921 0 3.18492E-5
20-32254596-G-T c.-708G>T 5_prime_UTR_premature_start_codon_gain ACTL10 3 20796 1.44259E-4 10398 0 3.18471E-5
20-32254812-C-T c.-492C>T 5_prime_UTR_premature_start_codon_gain ACTL10 2 44620 4.4823E-5 22310 0 NA
20-32254885-C-T c.-419C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 43748 2.28582E-5 21874 0 NA
20-32254911-C-T c.-393C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 42974 2.32699E-5 21487 0 3.18796E-5
20-32254917-G-A c.-387G>A 5_prime_UTR_premature_start_codon_gain ACTL10 2 42792 4.67377E-5 21396 0 NA
20-32254935-C-T c.-369C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 42532 2.35117E-5 21266 0 NA
20-32254946-C-T c.-358C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 42180 2.37079E-5 21090 0 3.18857E-5
20-32255034-T-C c.-270T>C 5_prime_UTR_premature_start_codon_gain ACTL10 12362 38216 0.323477 19108 1942 0.422247
20-32255075-G-T c.-229G>T 5_prime_UTR_premature_start_codon_gain ACTL10 9 39342 2.28763E-4 19671 0 3.19346E-5
20-32255104-G-T c.-200G>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 38216 2.61671E-5 19108 0 NA
20-32255135-G-T c.-169G>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 40528 2.46743E-5 20264 0 NA
20-32255159-G-C c.-145G>C 5_prime_UTR_premature_start_codon_gain ACTL10 3 42186 7.11136E-5 21093 0 NA
20-32255192-G-A c.-112G>A 5_prime_UTR_premature_start_codon_gain ACTL10 1 43768 2.28477E-5 21884 0 3.19407E-5
20-32255192-G-C c.-112G>C 5_prime_UTR_premature_start_codon_gain ACTL10 1 43768 2.28477E-5 21884 0 NA
20-32255227-C-T c.-77C>T 5_prime_UTR_premature_start_codon_gain ACTL10 2 45978 4.34991E-5 22989 0 NA
20-32255230-C-T c.-74C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 45948 2.17637E-5 22974 0 NA
20-32255250-C-T c.-54C>T 5_prime_UTR_premature_start_codon_gain ACTL10 1 46330 2.15843E-5 23165 0 NA
20-32255308-C-G p.Ala2Gly missense ACTL10 2 50290 3.97693E-5 25145 0 1.05241E-4
20-32255314-C-T p.Thr4Ile missense ACTL10 2 50324 3.97425E-5 25162 0 2.08887E-5
20-32255316-G-A p.Ala5Thr missense ACTL10 1 50096 1.99617E-5 25048 0 7.02375E-6
20-32255326-C-A p.Ala8Glu missense ACTL10 1 50334 1.98673E-5 25167 0 NA
20-32255330-C-G p.Leu9Leu synonymous ACTL10 1 50800 1.9685E-5 25400 0 5.11771E-4
20-32255348-C-G p.Phe15Leu missense ACTL10 2 51116 3.91267E-5 25558 0 4.7081E-4
20-32255353-G-T p.Gly17Val missense ACTL10 1 50958 1.9624E-5 25479 0 6.49815E-6
20-32255362-T-C p.Val20Ala missense ACTL10 1 50886 1.96518E-5 25443 0 2.53585E-5
20-32255367-G-T p.Ala22Ser missense ACTL10 2 50908 3.92866E-5 25454 0 1.91375E-4
20-32255370-G-A p.Gly23Ser missense ACTL10 1 50796 1.96866E-5 25398 0 4.82005E-4
20-32255377-G-A p.Gly25Asp missense ACTL10 1 50762 1.96998E-5 25381 0 6.26151E-6
20-32255404-C-A p.Ala34Glu missense ACTL10 7 53372 1.31155E-4 26686 0 9.56938E-5
20-32255406-G-A p.Gly35Ser missense ACTL10 15 53940 2.78087E-4 26970 0 5.9972E-4
20-32255406-G-C p.Gly35Arg missense ACTL10 1 53942 1.85384E-5 26971 0 1.05905E-5
20-32255412-T-A p.Ser37Thr missense ACTL10 2 54778 3.6511E-5 27389 0 NA
20-32255413-C-T p.Ser37Leu missense ACTL10 1 55000 1.81818E-5 27500 0 NA
20-32255420-C-T p.His39His synonymous ACTL10 1 56254 1.77765E-5 28127 0 0.0025
20-32255432-C-T p.Phe43Phe synonymous ACTL10 1 58838 1.69958E-5 29419 0 2.03716E-5
20-32255441-C-A p.Asn46Lys missense ACTL10 205 60574 0.00338429 30287 2 0.00875
20-32255441-C-T p.Asn46Asn synonymous ACTL10 2 60586 3.30109E-5 30293 0 5.13751E-5
20-32255450-C-T p.Gly49Gly synonymous ACTL10 1 61502 1.62596E-5 30751 0 NA
20-32255456-C-A p.Thr51Thr synonymous ACTL10 1 63306 1.57963E-5 31653 0 NA
20-32255468-C-T p.Tyr55Tyr synonymous ACTL10 3 65934 4.55E-5 32967 0 6.37633E-5
20-32255473-G-C p.Arg57Pro missense ACTL10 1 66636 1.50069E-5 33318 0 1.02783E-5
20-32255473-G-A p.Arg57Gln missense ACTL10 1 66636 1.50069E-5 33318 0 3.19E-5
20-32255480-G-C p.Leu59Leu synonymous ACTL10 2 68070 2.93815E-5 34035 0 6.25E-4
20-32255488-C-T p.Ala62Val missense ACTL10 1 68512 1.4596E-5 34256 0 NA
20-32255493-A-T p.Asn64Tyr missense ACTL10 1 69282 1.44338E-5 34641 0 NA
20-32255497-C-A p.Pro65His missense ACTL10 3 70294 4.26779E-5 35147 0 8.15554E-6
20-32255505-T-C p.Leu68Leu synonymous ACTL10 1 71102 1.40643E-5 35551 0 4.06888E-6
20-32255515-C-T p.Ala71Val missense ACTL10 1 71874 1.39132E-5 35937 0 NA
20-32255520-C-A p.Pro73Thr missense ACTL10 1 72316 1.38282E-5 36158 0 NA
20-32255524-G-C p.Arg74Pro missense ACTL10 25 72278 3.45887E-4 36139 0 3.18796E-5
20-32255529-G-A p.Ala76Thr missense ACTL10 1 72932 1.37114E-5 36466 0 4.05703E-6
20-32255531-C-T p.Ala76Ala synonymous ACTL10 3 73238 4.09623E-5 36619 0 8.60556E-6
20-32255533-TCA-T p.His79fs frameshift ACTL10 3 73336 4.09076E-5 36668 0 8.60289E-6
20-32255534-C-T p.Ile77Ile synonymous ACTL10 1 73510 1.36036E-5 36755 0 NA
20-32255543-CAAG-C p.Lys82del conservative_inframe_deletion ACTL10 1 73848 1.35413E-5 36924 0 NA
20-32255543-C-G p.Leu80Leu synonymous ACTL10 1 73848 1.35413E-5 36924 0 4.05334E-6
20-32255561-C-A p.Tyr86* stop_gained ACTL10 1 73632 1.35811E-5 36816 0 NA
20-32255562-G-A p.Val87Met missense ACTL10 1 73632 1.35811E-5 36816 0 NA
20-32255564-G-A p.Val87Val synonymous ACTL10 1 73640 1.35796E-5 36820 0 NA
20-32255566-C-G p.Ser88Cys missense ACTL10 1 73890 1.35336E-5 36945 0 3.18654E-5
20-32255567-C-T p.Ser88Ser synonymous ACTL10 2 73990 2.70307E-5 36995 0 6.37349E-5
20-32255571-G-T p.Asp90Tyr missense ACTL10 1 73724 1.35641E-5 36862 0 3.19E-5
20-32255583-G-A p.Asp94Asn missense ACTL10 1 72494 1.37942E-5 36247 0 4.10203E-6
20-32255589-C-T p.Arg96Cys missense ACTL10 2 72562 2.75626E-5 36281 0 3.18776E-5
20-32255602-G-A p.Arg100His missense ACTL10 2 73188 2.73269E-5 36594 0 8.98844E-6
20-32255606-C-T p.His101His synonymous ACTL10 1 73526 1.36006E-5 36763 0 NA
20-32255607-C-A p.His102Asn missense ACTL10 154 73500 0.00209524 36750 1 0.00436834
20-32255611-C-T p.Pro103Leu missense ACTL10 1 73492 1.36069E-5 36746 0 9.0919E-6
20-32255611-C-A p.Pro103Gln missense ACTL10 1 73492 1.36069E-5 36746 0 NA
20-32255625-G-C p.Val108Leu missense ACTL10 1 72314 1.38286E-5 36157 0 4.11804E-6
20-32255641-G-A p.Cys113Tyr missense ACTL10 1 70414 1.42017E-5 35207 0 1.06817E-5
20-32255643-G-A p.Val114Ile missense ACTL10 18 70154 2.56578E-4 35077 0 3.50653E-4
20-32255676-G-A p.Glu125Lys missense ACTL10 3 65524 4.57847E-5 32762 0 4.58716E-6
20-32255676-G-C p.Glu125Gln missense ACTL10 2 65524 3.05232E-5 32762 0 3.31279E-5
20-32255678-A-T p.Glu125Asp missense ACTL10 1 65390 1.52929E-5 32695 0 1.84908E-5
20-32255694-G-A p.Gly131Ser missense ACTL10 1 63478 1.57535E-5 31739 0 3.18552E-5
20-32255701-T-C p.Leu133Pro missense ACTL10 1 63270 1.58053E-5 31635 0 0.00101626
20-32255710-C-T p.Ala136Val missense ACTL10 2 62730 3.18827E-5 31365 0 NA
20-32255715-C-A p.Gln138Lys missense ACTL10 1 62488 1.60031E-5 31244 0 5.78797E-6
20-32255715-C-T p.Gln138* stop_gained ACTL10 2 62488 3.20061E-5 31244 0 NA
20-32255726-C-T p.Pro141Pro synonymous ACTL10 2 61512 3.2514E-5 30756 0 6.36983E-5
20-32255727-G-A p.Ala142Thr missense ACTL10 1 61320 1.63079E-5 30660 0 NA
20-32255733-G-C p.Ala144Pro missense ACTL10 2 61782 3.23719E-5 30891 0 NA
20-32255739-C-T p.Arg146Trp missense ACTL10 2 62048 3.22331E-5 31024 0 6.4957E-6
20-32255777-C-T p.Arg158Arg synonymous ACTL10 1 63464 1.5757E-5 31732 0 NA
20-32255784-G-A p.Asp161Asn missense ACTL10 2 64024 3.12383E-5 32012 0 2.71426E-5
20-32255787-A-C p.Thr162Pro missense ACTL10 2 64160 3.11721E-5 32080 0 3.18431E-5
20-32255791-T-C p.Val163Ala missense ACTL10 2 64366 3.10723E-5 32183 0 1.59276E-4
20-32255792-G-A p.Val163Val synonymous ACTL10 1 64468 1.55116E-5 32234 0 NA
20-32255797-T-C p.Leu165Pro missense ACTL10 1 64812 1.54292E-5 32406 0 NA
20-32255802-G-A p.Gly167Ser missense ACTL10 1 64842 1.54221E-5 32421 0 3.18552E-5
20-32255804-C-A p.Gly167Gly synonymous ACTL10 1 64994 1.5386E-5 32497 0 NA
20-32255810-C-T p.Ser169Ser synonymous ACTL10 1 66428 1.50539E-5 33214 0 NA
20-32255813-ACT-A p.Leu171fs frameshift ACTL10 3 66986 4.47855E-5 33493 0 7.81372E-5
20-32255815-T-A p.Leu171Gln missense ACTL10 3 67226 4.46256E-5 33613 0 NA
20-32255820-C-T p.Pro173Ser missense ACTL10 1 67680 1.47754E-5 33840 0 7.91515E-5
20-32255822-T-C p.Pro173Pro synonymous ACTL10 3 67846 4.42178E-5 33923 0 1.09604E-4
20-32255831-C-G p.Ala176Ala synonymous ACTL10 1 69022 1.44881E-5 34511 0 6.78187E-6
20-32255832-G-C p.Glu177Gln missense ACTL10 1 69310 1.44279E-5 34655 0 2.29288E-4
20-32255839-T-G p.Leu179Arg missense ACTL10 4 71066 5.62857E-5 35533 0 6.54999E-6
20-32255845-A-C p.Lys181Thr missense ACTL10 1 72170 1.38562E-5 36085 0 NA
20-32255855-G-T p.Glu184Asp missense ACTL10 1 73408 1.36225E-5 36704 0 NA
20-32255857-C-T p.Ala185Val missense ACTL10 3 73116 4.10307E-5 36558 0 9.55962E-5
20-32255857-C-G p.Ala185Gly missense ACTL10 1 73116 1.36769E-5 36558 0 3.18654E-5
20-32255861-G-C p.Gln186His missense ACTL10 2 74316 2.69121E-5 37158 0 NA
20-32255866-G-C p.Arg188Pro missense ACTL10 12 74816 1.60393E-4 37408 0 5.23396E-4
20-32255866-G-A p.Arg188Gln missense ACTL10 1 74816 1.33661E-5 37408 0 NA
20-32255869-G-A p.Arg189Gln missense ACTL10 2 75072 2.66411E-5 37536 0 9.85707E-5
20-32255873-C-T p.His190His synonymous ACTL10 178 75382 0.00236131 37691 3 0.00511771
20-32255879-C-CGCGGCCCT p.His198fs frameshift ACTL10 1 76284 1.31089E-5 38142 0 NA
20-32255882-G-T p.Ala193Ala synonymous ACTL10 197 76404 0.0025784 38202 1 0.00506563
20-32255882-G-A p.Ala193Ala synonymous ACTL10 2 76428 2.61684E-5 38214 0 5.10428E-6
20-32255888-G-A p.Leu195Leu synonymous ACTL10 1 77322 1.29329E-5 38661 0 NA
20-32255889-C-T p.Arg196Trp missense ACTL10 1 77330 1.29316E-5 38665 0 NA
20-32255892-C-A p.Pro197Thr missense ACTL10 1 77710 1.28684E-5 38855 0 2.7767E-5
20-32255895-C-T p.His198Tyr missense ACTL10 1 78304 1.27707E-5 39152 0 NA
20-32255913-G-C p.Gly204Arg missense ACTL10 3 79810 3.75893E-5 39905 0 1.16928E-4
20-32255923-T-C p.Met207Thr missense ACTL10 2 80480 2.48509E-5 40240 0 2.78319E-5
20-32255929-T-G p.Val209Gly missense ACTL10 2 80668 2.4793E-5 40334 0 NA
20-32255934-A-T p.Thr211Ser missense ACTL10 53 80854 6.55502E-4 40427 0 0.005625
20-32255935-C-T p.Thr211Ile missense ACTL10 3 80936 3.70663E-5 40468 0 6.32399E-5
20-32255936-C-A p.Thr211Thr synonymous ACTL10 2 80926 2.47139E-5 40463 0 1.66743E-5
20-32255938-G-C p.Gly212Ala missense ACTL10 1 81104 1.23298E-5 40552 0 NA
20-32255947-T-A p.Met215Lys missense ACTL10 1 81238 1.23095E-5 40619 0 1.23298E-5
20-32255961-C-CA p.His220fs frameshift ACTL10 4 81688 4.89668E-5 40844 0 NA
20-32255969-C-T p.Phe222Phe synonymous ACTL10 1 82016 1.21927E-5 41008 0 6.37227E-5
20-32255973-C-T p.Arg224Cys missense ACTL10 1 82056 1.21868E-5 41028 0 8.97924E-6
20-32255976-C-G p.Arg225Gly missense ACTL10 3 82160 3.65141E-5 41080 0 4.05314E-5
20-32256000-C-T p.Gln233* stop_gained ACTL10 1 82514 1.21192E-5 41257 0 1.23464E-5
20-32256003-G-A p.Glu234Lys missense ACTL10 1 82530 1.21168E-5 41265 0 NA
20-32256007-G-A p.Cys235Tyr missense ACTL10 1 82518 1.21186E-5 41259 0 NA
20-32256014-C-A p.Ser237Ser synonymous ACTL10 3 82496 3.63654E-5 41248 0 4.17453E-6
20-32256019-T-C p.Leu239Pro missense ACTL10 4 82386 4.85519E-5 41193 0 4.23804E-6
20-32256026-C-T p.Tyr241Tyr synonymous ACTL10 20 82238 2.43197E-4 41119 0 1.19858E-4
20-32256027-G-C p.Asp242His missense ACTL10 1 82212 1.21637E-5 41106 0 1.80986E-5
20-32256031-T-C p.Val243Ala missense ACTL10 2 82146 2.43469E-5 41073 0 NA