Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-38227832-G-A c.*118C>T splice_region ANKRD54 1 70590 1.41663E-5 35295 0 NA
22-38227963-A-G p.Met297Thr missense ANKRD54 3 79832 3.75789E-5 39916 0 8.04751E-6
22-38227966-C-T p.Ser296Asn missense ANKRD54 2 79832 2.50526E-5 39916 0 6.37267E-5
22-38227967-T-C p.Ser296Gly missense ANKRD54 2 79880 2.50376E-5 39940 0 4.02285E-6
22-38227989-G-A p.Thr288Thr synonymous ANKRD54 1 80160 1.2475E-5 40080 0 3.18573E-5
22-38227989-G-T p.Thr288Thr synonymous ANKRD54 2 80162 2.49495E-5 40081 0 NA
22-38227995-G-A p.Ser286Ser synonymous ANKRD54 2 80242 2.49246E-5 40121 0 4.02269E-6
22-38227996-C-T p.Ser286Asn missense ANKRD54 2 80236 2.49265E-5 40118 0 9.23805E-6
22-38228024-C-CCTGCTCTTTGGTACTGGTCAT c.829-1_829insATGACCAGTACCAAAGAGCAG splice_acceptor ANKRD54 2 80100 2.49688E-5 40050 1 NA
22-38228031-GA-G c.829-8delT splice_region ANKRD54 1 79990 1.25016E-5 39995 0 4.10351E-6
22-38228634-TGC-T c.828+8_828+9delGC splice_region ANKRD54 184 81072 0.00226959 40536 3 0.00519605
22-38228636-C-T c.828+8G>A splice_region ANKRD54 1 80910 1.23594E-5 40455 0 3.18796E-5
22-38228636-C-A c.828+8G>T splice_region ANKRD54 1 80908 1.23597E-5 40454 0 NA
22-38228644-C-T p.Gln276Gln splice_region+synonymous ANKRD54 469 81792 0.00573406 40896 2 0.0272452
22-38228656-A-G p.Ser272Ser synonymous ANKRD54 1 82352 1.2143E-5 41176 0 9.56999E-5
22-38228671-G-A p.Arg267Arg synonymous ANKRD54 2 82754 2.4168E-5 41377 0 2.47938E-5
22-38228673-G-A p.Arg267Cys missense ANKRD54 2 82806 2.41528E-5 41403 0 2.47885E-5
22-38228677-G-A p.Cys265Cys synonymous ANKRD54 2 82758 2.41668E-5 41379 0 6.37227E-5
22-38228691-G-C p.Leu261Val missense ANKRD54 3 82932 3.61742E-5 41466 0 8.25587E-6
22-38228691-G-A p.Leu261Leu synonymous ANKRD54 1 82932 1.20581E-5 41466 0 NA
22-38228693-C-T p.Arg260His missense ANKRD54 2 82934 2.41156E-5 41467 0 8.25478E-5
22-38228694-G-A p.Arg260Cys missense ANKRD54 12 82956 1.44655E-4 41478 0 1.23824E-4
22-38228699-C-T p.Arg258Gln missense ANKRD54 1 83004 1.20476E-5 41502 0 3.97801E-6
22-38228720-C-T p.Arg251His missense ANKRD54 3 83056 3.61202E-5 41528 0 3.18756E-5
22-38228721-G-A p.Arg251Cys missense ANKRD54 4 83078 4.81475E-5 41539 0 0.00151057
22-38228724-C-T p.Glu250Lys missense ANKRD54 1 83082 1.20363E-5 41541 0 NA
22-38228730-A-G p.Tyr248His missense ANKRD54 3 83096 3.61028E-5 41548 0 3.19448E-5
22-38228744-T-C p.His243Arg missense ANKRD54 1 83096 1.20343E-5 41548 0 3.97902E-6
22-38228745-G-A p.His243Tyr missense ANKRD54 6 83094 7.22074E-5 41547 0 7.42991E-5
22-38228747-A-G p.Ile242Thr missense ANKRD54 1 83088 1.20354E-5 41544 0 3.97918E-6
22-38228981-C-T p.Arg235His missense ANKRD54 60 83160 7.21501E-4 41580 0 0.0040282
22-38228982-G-A p.Arg235Cys missense ANKRD54 1 83154 1.20259E-5 41577 0 8.25627E-6
22-38228997-A-T p.Cys230Ser missense ANKRD54 1 83136 1.20285E-5 41568 0 NA
22-38229004-A-G p.His227His synonymous ANKRD54 2 83132 2.40581E-5 41566 0 3.98061E-6
22-38229016-C-T p.Leu90Leu splice_region+synonymous ANKRD54 5 83096 6.01714E-5 41548 0 2.5481E-4
22-38229016-C-G p.Leu90Leu splice_region+synonymous ANKRD54 2 83096 2.40685E-5 41548 0 6.25E-4
22-38229050-G-A p.Pro212Leu missense ANKRD54 1 82930 1.20584E-5 41465 0 NA
22-38229056-C-T p.Arg210His missense ANKRD54 1 82896 1.20633E-5 41448 0 3.98429E-6
22-38229057-G-A p.Arg210Cys missense ANKRD54 3 82892 3.61917E-5 41446 0 1.65884E-4
22-38229061-A-G p.Trp213Arg missense ANKRD54 4 82870 4.82684E-5 41435 0 4.94028E-4
22-38229065-C-T p.Arg207Gln missense ANKRD54 1 82804 1.20767E-5 41402 0 3.18715E-5
22-38229066-G-T p.Pro211Gln missense ANKRD54 1 82810 1.20758E-5 41405 0 NA
22-38229083-C-T p.Arg201His missense ANKRD54 3 82608 3.63161E-5 41304 0 3.18552E-5
22-38229084-G-A p.Arg201Cys missense ANKRD54 1 82578 1.21098E-5 41289 0 3.33084E-5
22-38229086-G-A p.Ala200Val missense ANKRD54 1 82542 1.2115E-5 41271 0 NA
22-38229086-G-T p.Ala200Asp missense ANKRD54 1 82542 1.2115E-5 41271 0 3.1839E-5
22-38229088-CCCTGCAGGTACCAGCTGAGGTGAGCATTCTGGGGGTGAGGGGGAGAAAGAGGACAGAGAGGGGAAGAAACCACATA-C p.Ala200fs frameshift ANKRD54 7 82526 8.48218E-5 41263 0 NA
22-38229096-G-A p.Thr201Ile missense ANKRD54 1 82446 1.21292E-5 41223 0 NA
22-38229110-G-A p.Ser107Leu missense ANKRD54 1 82056 1.21868E-5 41028 0 2.00545E-4
22-38229114-A-G p.Cys106Arg missense+splice_region ANKRD54 1 81874 1.22139E-5 40937 0 3.98794E-6
22-38229120-G-A c.314-4C>T splice_region ANKRD54 2 81474 2.45477E-5 40737 0 3.99074E-6
22-38229176-C-T p.Cys44Tyr missense ANKRD54 8 68572 1.16666E-4 34286 0 9.56267E-5
22-38229188-G-C p.Ser40* stop_gained ANKRD54 1 64532 1.54962E-5 32266 0 4.03548E-6
22-38229191-A-G p.Leu39Pro missense ANKRD54 1 63382 1.57774E-5 31691 0 8.57427E-6
22-38229196-C-T p.Val189Ile missense ANKRD54 8 61088 1.30959E-4 30544 0 6.25E-4
22-38229197-G-A p.Thr37Met missense ANKRD54 4 60806 6.5783E-5 30403 0 5.03525E-4
22-38229212-C-T p.Arg32Gln missense+splice_region ANKRD54 3 56270 5.33144E-5 28135 0 8.75626E-6
22-38229214-C-CCAGG c.548-2_548-1insCCTG splice_acceptor ANKRD54 2 55546 3.60062E-5 27773 0 NA
22-38229216-G-GCAGTGGCGTGTTCCCCAGCCCATCTCGCTGGTT c.548-4_548-3insAACCAGCGAGATGGGCTGGGGAACACGCCACTG splice_region ANKRD54 1 55186 1.81205E-5 27593 0 NA
22-38229693-A-G p.Leu182Pro missense+splice_region ANKRD54 1 83072 1.20378E-5 41536 0 NA
22-38229698-C-G p.Cys29Ser missense ANKRD54 2 83104 2.40662E-5 41552 0 NA
22-38229704-C-T p.Arg27His missense ANKRD54 3 83126 3.60898E-5 41563 0 3.97826E-6
22-38229722-T-G p.Glu21Ala missense ANKRD54 1 83158 1.20253E-5 41579 0 2.50627E-4
22-38229723-C-T p.Arg172Gln missense ANKRD54 2 83168 2.40477E-5 41584 0 9.55536E-5
22-38229739-C-T p.Ala167Thr missense ANKRD54 1 83122 1.20305E-5 41561 0 NA
22-38229744-T-C p.His165Arg missense ANKRD54 4 83104 4.81325E-5 41552 0 NA
22-38229751-G-A p.Pro173Leu missense ANKRD54 28 83076 3.37041E-4 41538 0 0.00352467
22-38229754-G-A p.Leu162Phe missense ANKRD54 1 83084 1.2036E-5 41542 0 3.98029E-6
22-38229763-C-CAATCTGGTCATTGCCATTGCATGAGGCAAAGTGTAGAGCTG c.476-2_476-1insCAGCTCTACACTTTGCCTCATGCAATGGCAATGACCAGATT splice_acceptor ANKRD54 3 83008 3.61411E-5 41504 1 NA
22-38229917-T-C n.812+7A>G splice_region ANKRD54 157 54848 0.00286246 27424 0 0.00588947
22-38229925-A-G n.811T>C splice_region ANKRD54 1 51126 1.95595E-5 25563 0 NA
22-38234498-AG-A c.475+8delC splice_region ANKRD54 1 81704 1.22393E-5 40852 0 NA
22-38234501-A-C c.475+6T>G splice_region ANKRD54 3 81776 3.66856E-5 40888 0 8.22402E-6
22-38234543-G-C p.Leu147Val missense ANKRD54 2 82160 2.43427E-5 41080 0 NA
22-38234573-A-G p.Cys137Arg missense ANKRD54 1 81658 1.22462E-5 40829 0 1.03389E-5
22-38234577-A-G p.Ile4Thr missense ANKRD54 1 81468 1.22748E-5 40734 0 NA
22-38234580-C-T p.Arg3Gln missense ANKRD54 2 81276 2.46075E-5 40638 0 5.23758E-5
22-38234580-C-A p.Arg3Leu missense ANKRD54 24 81276 2.9529E-4 40638 1 0.00140367
22-38234581-G-A p.Ala134Val missense ANKRD54 2 81130 2.46518E-5 40565 0 1.67926E-4
22-38234586-A-G p.Met1? start_lost ANKRD54 48 80924 5.93149E-4 40462 0 9.07267E-4
22-38234597-G-C p.Leu129Val missense ANKRD54 1 80272 1.24576E-5 40136 0 3.70334E-5
22-38236188-A-G c.376+6T>C splice_region ANKRD54 1 83386 1.19924E-5 41693 0 8.23655E-6
22-38236189-C-T c.376+5G>A splice_region ANKRD54 1 83388 1.19921E-5 41694 0 NA
22-38236213-A-G p.Met1? start_lost ANKRD54 6 83406 7.19373E-5 41703 0 5.03525E-4
22-38236219-C-T p.Ser117Ser synonymous ANKRD54 1 83398 1.19907E-5 41699 0 3.97684E-6
22-38236234-C-T p.Lys112Lys synonymous ANKRD54 1 83404 1.19898E-5 41702 0 9.55475E-5
22-38236241-G-A p.Ala110Val missense+splice_region ANKRD54 1 83392 1.19916E-5 41696 0 NA
22-38239732-T-C c.-136A>G 5_prime_UTR_premature_start_codon_gain ANKRD54 1 15384 6.50026E-5 7692 0 NA
22-38239907-GCGCCGCTCA-G c.328+2_328+10delTGAGCGGCG splice_donor ANKRD54 1 30742 3.25288E-5 15371 0 NA
22-38239911-C-G c.328+7G>C splice_region ANKRD54 2 31034 6.44454E-5 15517 0 6.50111E-5
22-38239937-G-C p.Pro103Pro synonymous ANKRD54 1 35462 2.81992E-5 17731 0 0.00161987
22-38239966-C-G p.Ala94Pro missense ANKRD54 2 36852 5.42711E-5 18426 0 1.82615E-4
22-38239987-G-A p.Pro87Ser missense ANKRD54 2 37770 5.29521E-5 18885 0 1.52462E-5
22-38240008-C-T p.Asp80Asn missense ANKRD54 1 38566 2.59296E-5 19283 0 NA
22-38240023-C-T p.Asp75Asn missense ANKRD54 1 39062 2.56003E-5 19531 0 3.21564E-5
22-38240033-C-A c.-177G>T 5_prime_UTR_premature_start_codon_gain ANKRD54 3 39476 7.59955E-5 19738 0 0.00318134
22-38240036-G-A p.Val70Val synonymous ANKRD54 1 39572 2.52704E-5 19786 0 NA
22-38240048-G-C p.Arg66Arg synonymous ANKRD54 2 39772 5.02866E-5 19886 0 5.08992E-4
22-38240054-C-T p.Pro64Pro synonymous ANKRD54 2 39800 5.02513E-5 19900 0 NA
22-38240064-G-T p.Ala61Asp missense ANKRD54 1 39876 2.50777E-5 19938 0 3.99377E-5
22-38240080-G-A p.Arg56Trp missense ANKRD54 1 39794 2.51294E-5 19897 0 NA
22-38240093-C-T p.Ala51Ala synonymous ANKRD54 1 40120 2.49252E-5 20060 0 1.66495E-5
22-38240094-G-GCGC p.Gly50dup conservative_inframe_insertion ANKRD54 2 39960 5.00501E-5 19980 0 3.21254E-4
22-38240111-C-A p.Ala45Ala synonymous ANKRD54 1 40698 2.45712E-5 20349 0 1.92037E-4
22-38240117-C-A p.Gly43Gly synonymous ANKRD54 5 40896 1.22261E-4 20448 0 0.00131846
22-38240135-G-A p.Phe37Phe synonymous ANKRD54 2 41340 4.83793E-5 20670 0 NA
22-38240135-G-C p.Phe37Leu missense ANKRD54 1 41340 2.41896E-5 20670 0 NA
22-38240148-G-A p.Ala33Val missense ANKRD54 1 41660 2.40038E-5 20830 0 3.19366E-5
22-38240156-C-G p.Leu30Leu synonymous ANKRD54 1 41902 2.38652E-5 20951 0 1.04E-5
22-38240156-C-T p.Leu30Leu synonymous ANKRD54 2 41902 4.77304E-5 20951 0 NA
22-38240169-G-C p.Ala26Gly missense ANKRD54 1 42066 2.37722E-5 21033 0 NA
22-38240170-C-T p.Ala26Thr missense ANKRD54 6 42090 1.42552E-4 21045 0 2.23556E-4
22-38240183-G-A p.Gly21Gly synonymous ANKRD54 1 42242 2.36731E-5 21121 0 3.19305E-5
22-38240189-C-A p.Ser19Ser synonymous ANKRD54 2 42430 4.71365E-5 21215 0 NA
22-38240194-T-C p.Ser18Gly missense ANKRD54 1 42454 2.35549E-5 21227 0 NA
22-38240203-C-T p.Gly15Ser missense ANKRD54 5 42568 1.17459E-4 21284 0 1.5952E-4
22-38240213-C-T p.Glu11Glu synonymous ANKRD54 1 42244 2.3672E-5 21122 0 NA
22-38240267-T-G p.Pro5Pro synonymous ANKRD54 59 43638 0.00135203 21819 1 0.00484848
22-38240277-A-G p.Leu2Pro missense ANKRD54 1 44190 2.26296E-5 22095 0 NA
22-38240280-C-T p.Arg1Lys missense ANKRD54 13 44414 2.92701E-4 22207 0 0.00231949
22-38240337-G-C c.-92C>G 5_prime_UTR_premature_start_codon_gain ANKRD54 1 46036 2.17221E-5 23018 0 NA
22-38240345-G-A c.-100C>T 5_prime_UTR_premature_start_codon_gain ANKRD54 1 45462 2.19964E-5 22731 0 2.23186E-4
22-38240368-G-A c.-123C>T 5_prime_UTR_premature_start_codon_gain ANKRD54 3 43222 6.94091E-5 21611 0 NA
22-38240379-G-A c.-134C>T 5_prime_UTR_premature_start_codon_gain ANKRD54 2 42336 4.72411E-5 21168 0 NA
22-38240413-C-A c.-168G>T 5_prime_UTR_premature_start_codon_gain ANKRD54 1 35696 2.80143E-5 17848 0 1.45964E-4
22-38245295-G-A c.-379C>T 5_prime_UTR_premature_start_codon_gain ANKRD54 1 73526 1.36006E-5 36763 0 3.18492E-5