Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-48773417-C-T p.Ala350Thr missense ANKRD40 1 83374 1.19941E-5 41687 0 3.18431E-5
17-48773421-A-G p.Asn348Asn synonymous ANKRD40 2 83366 2.39906E-5 41683 0 3.18512E-5
17-48773466-C-T p.Leu333Leu synonymous ANKRD40 1 83298 1.20051E-5 41649 0 3.18451E-5
17-48773484-G-A p.Leu327Leu synonymous ANKRD40 4 83294 4.80227E-5 41647 0 2.14731E-4
17-48773488-C-T p.Arg326Gln missense ANKRD40 2 83278 2.40159E-5 41639 0 NA
17-48773489-G-A p.Arg326* stop_gained ANKRD40 1 83278 1.2008E-5 41639 0 8.26925E-6
17-48773506-T-TTCCTTAACAGAGTATTGGGTAACTTTCTGATCTTCTCCACTTGATCTGG c.961-3_961-2insCCAGATCAAGTGGAGAAGATCAGAAAGTTACCCAATACTCTGTTAAGGA splice_region ANKRD40 1 83210 1.20178E-5 41605 0 NA
17-48774316-A-G p.Asn315Asn synonymous ANKRD40 3 83218 3.60499E-5 41609 0 NA
17-48774319-G-A p.Pro314Pro synonymous ANKRD40 1393 83224 0.016738 41612 39 0.0295242
17-48774362-A-G p.Leu300Pro missense ANKRD40 1 83338 1.19993E-5 41669 0 1.31878E-4
17-48774364-C-G p.Glu299Asp missense ANKRD40 1 83340 1.1999E-5 41670 0 NA
17-48774393-G-T p.Gln290Lys missense ANKRD40 4 83342 4.7995E-5 41671 0 3.18471E-5
17-48774410-C-T p.Arg284Gln missense ANKRD40 2 83316 2.4005E-5 41658 0 1.19358E-5
17-48774412-G-A p.Asp283Asp synonymous ANKRD40 1 83320 1.20019E-5 41660 0 8.24226E-6
17-48774466-C-T p.Val265Val synonymous ANKRD40 2 83284 2.40142E-5 41642 0 NA
17-48774484-T-TTGCATATTAAATGGAAATGCTCCAGTGA c.779-3_779-2insTCACTGGAGCATTTCCATTTAATATGCA splice_region ANKRD40 1 83256 1.20111E-5 41628 0 NA
17-48774486-G-C c.779-4C>G splice_region ANKRD40 11 83238 1.32151E-4 41619 0 7.95541E-4
17-48774486-GA-G c.779-5delT splice_region ANKRD40 2 83238 2.40275E-5 41619 0 5.21893E-5
17-48776755-G-T c.778+5C>A splice_region ANKRD40 2 82874 2.4133E-5 41437 0 1.59205E-4
17-48776800-C-T p.Gln246Gln synonymous ANKRD40 1 83348 1.19979E-5 41674 0 8.23873E-6
17-48776813-G-A p.Ala242Val missense ANKRD40 1 83370 1.19947E-5 41685 0 3.97728E-5
17-48776822-G-A p.Ala239Val missense ANKRD40 2 83384 2.39854E-5 41692 0 1.64731E-5
17-48776827-C-T p.Thr237Thr synonymous ANKRD40 1 83390 1.19918E-5 41695 0 8.23669E-6
17-48776828-G-A p.Thr237Met missense ANKRD40 1 83390 1.19918E-5 41695 0 3.29462E-5
17-48776831-C-G p.Gly236Ala missense ANKRD40 1 83396 1.1991E-5 41698 0 8.23655E-6
17-48776834-T-C p.Asn235Ser missense ANKRD40 3 83402 3.59704E-5 41701 0 4.11821E-5
17-48776836-T-C p.Gln234Gln synonymous ANKRD40 4 83402 4.79605E-5 41701 0 3.18471E-5
17-48776853-T-C p.Met229Val missense ANKRD40 4 83400 4.79616E-5 41700 0 9.06006E-5
17-48776864-G-C p.Ser225Cys missense ANKRD40 1 83394 1.19913E-5 41697 0 NA
17-48776866-C-T p.Pro224Pro synonymous ANKRD40 1 83398 1.19907E-5 41699 0 6.25E-4
17-48776869-G-A p.Val223Val synonymous ANKRD40 7 83398 8.39349E-5 41699 0 2.54728E-4
17-48776874-A-G p.Ser222Pro missense ANKRD40 74 83404 8.87248E-4 41702 0 0.0025
17-48776883-G-A p.Leu219Leu synonymous ANKRD40 1 83412 1.19887E-5 41706 0 3.1841E-5
17-48776886-A-G p.Ser218Pro missense ANKRD40 157 83402 0.00188245 41701 2 0.00640975
17-48776887-G-A p.Arg217Arg synonymous ANKRD40 21 83404 2.51786E-4 41702 0 5.73321E-4
17-48776888-C-T p.Arg217His missense ANKRD40 2 83402 2.39802E-5 41701 0 8.23642E-6
17-48776889-G-A p.Arg217Cys missense ANKRD40 3 83404 3.59695E-5 41702 0 4.94185E-5
17-48776906-G-A p.Pro211Leu missense ANKRD40 1 83410 1.1989E-5 41705 0 NA
17-48776917-A-G p.Pro207Pro synonymous ANKRD40 6 83404 7.1939E-5 41702 0 2.38582E-5
17-48776923-C-T p.Pro205Pro synonymous ANKRD40 2 83404 2.39797E-5 41702 0 5.03525E-4
17-48776924-G-A p.Pro205Leu missense ANKRD40 12 83404 1.43878E-4 41702 0 5.76625E-5
17-48776949-G-A p.Leu197Phe missense ANKRD40 1 83416 1.19881E-5 41708 0 NA
17-48776961-G-C p.Pro193Ala missense ANKRD40 1 83408 1.19893E-5 41704 0 8.23642E-6
17-48776965-C-T p.Ser191Ser synonymous ANKRD40 4 83402 4.79605E-5 41701 0 1.64728E-5
17-48776966-G-A p.Ser191Leu missense ANKRD40 3 83404 3.59695E-5 41702 0 4.11821E-5
17-48776969-A-G p.Val190Ala missense ANKRD40 1 83408 1.19893E-5 41704 0 3.97709E-6
17-48776969-A-T p.Val190Glu missense ANKRD40 3 83408 3.59678E-5 41704 0 2.2293E-4
17-48776998-G-C p.Thr180Thr synonymous ANKRD40 1 83392 1.19916E-5 41696 0 8.23655E-6
17-48777000-T-G p.Thr180Pro missense ANKRD40 63 83380 7.55577E-4 41690 0 0.00141071
17-48777008-C-T p.Arg177Gln missense ANKRD40 3 83360 3.59885E-5 41680 0 2.86716E-4
17-48777009-G-A p.Arg177Trp missense ANKRD40 2 83362 2.39917E-5 41681 0 7.95621E-6
17-48777023-A-G p.Leu172Ser missense ANKRD40 1 83336 1.19996E-5 41668 0 2.47219E-5
17-48777034-T-C p.Glu168Glu synonymous ANKRD40 1 83312 1.20031E-5 41656 0 8.24661E-6
17-48777041-G-A p.Pro166Leu missense ANKRD40 2 83278 2.40159E-5 41639 0 NA
17-48777064-A-G p.Asp158Asp synonymous ANKRD40 6 83140 7.21674E-5 41570 0 2.86734E-4
17-48777064-A-T p.Asp158Glu missense ANKRD40 1 83140 1.20279E-5 41570 0 NA
17-48777066-C-CTGCAGGGGGTGA p.Ala157_Asp158insSerProProAla conservative_inframe_insertion ANKRD40 1 83140 1.20279E-5 41570 0 NA
17-48777069-C-T p.Ala157Thr missense ANKRD40 2 83094 2.40691E-5 41547 0 NA
17-48777072-G-C p.Pro156Ala missense ANKRD40 1 83070 1.2038E-5 41535 0 3.98991E-6
17-48777072-G-T p.Pro156Thr missense ANKRD40 1 83070 1.2038E-5 41535 0 1.66678E-5
17-48777073-G-C p.Pro155Pro synonymous ANKRD40 2 83058 2.40796E-5 41529 0 2.92227E-4
17-48777077-G-A p.Ser154Leu missense ANKRD40 10 82990 1.20496E-4 41495 0 9.19763E-5
17-48777079-T-C p.Ala153Ala synonymous ANKRD40 1 82972 1.20523E-5 41486 0 3.18837E-5
17-48777084-G-C p.Pro152Ala missense ANKRD40 3 82860 3.62056E-5 41430 0 4.00083E-6
17-48777087-G-A p.Pro151Ser missense ANKRD40 3 82802 3.6231E-5 41401 0 1.99938E-5
17-48777094-G-A p.Pro148Pro synonymous ANKRD40 1 82558 1.21127E-5 41279 0 NA
17-48777104-T-C p.Asn145Ser missense ANKRD40 3 82094 3.65435E-5 41047 0 NA
17-48777118-T-G p.Ser140Ser synonymous ANKRD40 7 81150 8.626E-5 40575 0 1.7155E-5
17-48777122-T-G p.Asp139Ala missense ANKRD40 1 80744 1.23848E-5 40372 0 3.43944E-5
17-48777128-G-T p.Ala137Glu missense ANKRD40 1 80008 1.24988E-5 40004 0 NA
17-48777137-G-A p.Thr134Ile missense ANKRD40 2 78842 2.53672E-5 39421 0 1.23421E-5
17-48777144-T-C p.Ile132Val missense ANKRD40 1 77600 1.28866E-5 38800 0 NA
17-48777190-T-G p.Glu116Asp missense ANKRD40 4 63658 6.28358E-5 31829 0 7.32265E-5
17-48777198-CCTT-C p.Lys113del conservative_inframe_deletion ANKRD40 1 61308 1.63111E-5 30654 0 5.58223E-6
17-48777211-G-C p.Pro109Pro synonymous ANKRD40 2 57350 3.48736E-5 28675 0 1.14052E-5
17-48777220-GTCA-G p.Asp106del disruptive_inframe_deletion ANKRD40 27 54974 4.91141E-4 27487 2 9.34083E-4
17-48777220-G-GTCA p.Asp106dup disruptive_inframe_insertion ANKRD40 906 55068 0.0164524 27534 23 0.032023
17-48777220-G-GTCATCA p.Asp105_Asp106dup disruptive_inframe_insertion ANKRD40 3 55134 5.44129E-5 27567 0 1.47487E-4
17-48777223-A-T p.Asp105Glu missense ANKRD40 1 54024 1.85103E-5 27012 0 NA
17-48777228-C-T p.Asp104Asn missense ANKRD40 1 53068 1.88437E-5 26534 0 NA
17-48777241-A-T p.Asp99Glu missense ANKRD40 7 49566 1.41226E-4 24783 0 1.9356E-4
17-48777241-ATCT-A p.Glu98del disruptive_inframe_deletion ANKRD40 83 49566 0.00167453 24783 0 0.00553877
17-48777244-T-A p.Glu98Asp missense ANKRD40 1 48820 2.04834E-5 24410 0 0.0040282
17-48777993-AAGAAT-A p.Ile72fs frameshift ANKRD40 1 83246 1.20126E-5 41623 0 NA
17-48778001-C-A p.Glu71* stop_gained ANKRD40 1 83260 1.20106E-5 41630 0 NA
17-48778040-G-A p.Gln58* stop_gained ANKRD40 1 83236 1.2014E-5 41618 0 NA
17-48778043-C-T p.Gly57Ser missense ANKRD40 1 83242 1.20132E-5 41621 0 1.64848E-5
17-48778059-T-C p.Ala51Ala synonymous ANKRD40 1 83210 1.20178E-5 41605 0 3.18512E-5
17-48778062-C-G p.Trp50Cys missense ANKRD40 1 83196 1.20198E-5 41598 0 NA
17-48778065-G-A c.-88C>T 5_prime_UTR_premature_start_codon_gain ANKRD40 1 83188 1.2021E-5 41594 0 NA
17-48778072-C-T p.Cys47Tyr missense ANKRD40 1 83160 1.2025E-5 41580 0 NA
17-48778077-C-CCAGCCGTTGACCTCATTTTGGGAGTTCACATCCACCCCGCTCTCCACCAGTTT c.135-1_135insAAACTGGTGGAGAGCGGGGTGGATGTGAACTCCCAAAATGAGGTCAACGGCTG splice_acceptor ANKRD40 1 83150 1.20265E-5 41575 0 NA
17-48778083-C-A c.135-6G>T splice_region ANKRD40 1 83088 1.20354E-5 41544 0 NA
17-48778093-T-C c.-116A>G 5_prime_UTR_premature_start_codon_gain ANKRD40 1 82820 1.20744E-5 41410 0 3.32022E-5
17-48778298-T-C c.-321A>G 5_prime_UTR_premature_start_codon_gain ANKRD40 5156 23722 0.217351 11861 20 0.298067
17-48784885-C-T p.Gly44Asp missense ANKRD40 1 80202 1.24685E-5 40101 0 3.19163E-5
17-48784891-A-C p.Val42Gly missense ANKRD40 3 80184 3.74139E-5 40092 0 4.14879E-6
17-48784899-T-C p.Gln39Gln synonymous ANKRD40 1 80378 1.24412E-5 40189 0 5.03525E-4
17-48784905-G-C p.Asn37Lys missense ANKRD40 3 80374 3.73255E-5 40187 0 1.65076E-5
17-48784915-A-G p.Val34Ala missense ANKRD40 1 80160 1.2475E-5 40080 0 NA
17-48784920-G-T p.Ser32Arg missense ANKRD40 1 80440 1.24316E-5 40220 0 3.20307E-5
17-48784934-T-C p.Lys28Glu missense ANKRD40 36 80846 4.45291E-4 40423 0 0.00188116
17-48784972-C-G p.Arg15Pro missense ANKRD40 1 81204 1.23147E-5 40602 0 NA
17-48784978-C-T p.Arg13Lys missense ANKRD40 1 81192 1.23165E-5 40596 0 2.48328E-5
17-48784979-TCTCCTGCTG-T p.Gln10_Glu12del conservative_inframe_deletion ANKRD40 1 81114 1.23283E-5 40557 0 NA
17-48784982-C-T p.Glu12Lys missense ANKRD40 3 81162 3.69631E-5 40581 0 5.03525E-4
17-48784984-T-A p.Gln11Leu missense ANKRD40 18 81108 2.21926E-4 40554 0 5.63791E-4
17-48784987-T-C p.Gln10Arg missense ANKRD40 1 80990 1.23472E-5 40495 0 4.38431E-6
17-48784992-C-T p.Lys8Lys synonymous ANKRD40 1 80814 1.23741E-5 40407 0 4.39275E-6
17-48785000-C-T p.Glu6Lys missense ANKRD40 1 80312 1.24514E-5 40156 0 NA
17-48785006-G-C p.Leu4Val missense ANKRD40 1 79992 1.25013E-5 39996 0 6.54365E-5
17-48785007-G-A p.Ala3Ala synonymous ANKRD40 1 79756 1.25382E-5 39878 0 8.429E-6
17-48785008-G-A p.Ala3Val missense ANKRD40 1 79646 1.25556E-5 39823 0 4.99955E-6
17-48785015-T-A p.Met1? initiator_codon ANKRD40 1 78988 1.26602E-5 39494 0 NA
17-48785066-G-A c.-51C>T 5_prime_UTR_premature_start_codon_gain ANKRD40 1 67742 1.47619E-5 33871 0 NA
17-48785100-C-A c.-85G>T 5_prime_UTR_premature_start_codon_gain ANKRD40 13230 57186 0.23135 28593 373 0.326613
17-48785153-T-A c.-138A>T 5_prime_UTR_premature_start_codon_gain ANKRD40 1 40144 2.49103E-5 20072 0 NA
17-48785169-G-A c.-154C>T 5_prime_UTR_premature_start_codon_gain ANKRD40 3 30180 9.94036E-5 15090 0 NA
17-48785200-T-A c.-185A>T 5_prime_UTR_premature_start_codon_gain ANKRD40 1 13214 7.56773E-5 6607 0 NA