Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-12093922-G-T c.-95G>T 5_prime_UTR_premature_start_codon_gain ANKRD62 1 67556 1.48025E-5 33778 0 NA
18-12093954-C-T c.-63C>T 5_prime_UTR_premature_start_codon_gain ANKRD62 200 73252 0.0027303 36626 1 0.00648148
18-12093964-C-T c.-53C>T 5_prime_UTR_premature_start_codon_gain ANKRD62 1493 74180 0.0201267 37090 15 0.00785491
18-12094000-A-T c.-17A>T 5_prime_UTR_premature_start_codon_gain ANKRD62 2 76580 2.61165E-5 38290 0 NA
18-12094004-C-G c.-13C>G 5_prime_UTR_premature_start_codon_gain ANKRD62 2 76658 2.60899E-5 38329 0 6.58974E-5
18-12094006-C-T c.-11C>T 5_prime_UTR_premature_start_codon_gain ANKRD62 41601 70760 0.587917 35380 12064 0.628951
18-12094014-A-T c.-3A>T 5_prime_UTR_premature_start_codon_gain ANKRD62 12 76884 1.56079E-4 38442 0 1.31525E-4
18-12094021-A-T p.Glu2Val missense ANKRD62 1 76964 1.29931E-5 38482 0 NA
18-12094031-G-T p.Gly5Gly synonymous ANKRD62 19546 76078 0.256921 38039 2618 0.303354
18-12094034-G-C p.Ser6Ser synonymous ANKRD62 3 77096 3.89125E-5 38548 0 NA
18-12094042-C-T p.Ala9Val missense ANKRD62 2 77168 2.59175E-5 38584 0 3.20451E-5
18-12094043-G-A p.Ala9Ala synonymous ANKRD62 1 77194 1.29544E-5 38597 0 NA
18-12094044-G-T p.Ala10Ser missense ANKRD62 3 77208 3.88561E-5 38604 0 3.20061E-5
18-12094044-G-A p.Ala10Thr missense ANKRD62 1 77208 1.2952E-5 38604 0 7.27675E-6
18-12094045-C-A p.Ala10Asp missense ANKRD62 1 77204 1.29527E-5 38602 0 NA
18-12094048-G-T p.Cys11Phe missense ANKRD62 5 77242 6.47316E-5 38621 0 1.59928E-4
18-12094056-C-T p.Arg14Cys missense ANKRD62 1 77234 1.29477E-5 38617 0 7.27051E-6
18-12094057-G-A p.Arg14His missense ANKRD62 14 77244 1.81244E-4 38622 0 2.39902E-4
18-12094081-G-A p.Arg8His missense ANKRD62 1 77302 1.29363E-5 38651 0 NA
18-12094084-A-G p.Asp9Gly missense ANKRD62 1 77334 1.29309E-5 38667 0 NA
18-12094088-G-C p.Lys10Asn missense ANKRD62 47 77348 6.07643E-4 38674 1 9.78474E-4
18-12094088-G-A p.Lys10Lys synonymous ANKRD62 1 77348 1.29286E-5 38674 0 3.20184E-5
18-12094109-G-A p.Gly17Gly synonymous ANKRD62 1 77236 1.29473E-5 38618 0 NA
18-12094114-G-A p.Arg19Gln missense ANKRD62 113 77266 0.00146248 38633 0 0.00141252
18-12094124-G-A p.Gln22Gln synonymous ANKRD62 2 77292 2.58759E-5 38646 0 7.26712E-6
18-12094127-G-A p.Lys23Lys synonymous ANKRD62 162 77274 0.00209644 38637 1 0.00420627
18-12094133-G-A p.Leu25Leu synonymous ANKRD62 1 77276 1.29406E-5 38638 0 NA
18-12094157-C-T p.Ile33Ile synonymous ANKRD62 4 77288 5.17545E-5 38644 0 4.36376E-5
18-12094158-G-A p.Ala34Thr missense ANKRD62 2 77262 2.58859E-5 38631 0 3.50238E-4
18-12094167-G-A p.Val37Met missense ANKRD62 3 77252 3.88339E-5 38626 0 7.27707E-6
18-12094174-A-C p.Lys39Thr missense ANKRD62 2 77236 2.58947E-5 38618 0 4.36649E-5
18-12094190-C-G p.Ile44Met missense ANKRD62 1 77158 1.29604E-5 38579 0 NA
18-12094199-G-T p.Arg47Ser missense ANKRD62 1 77100 1.29702E-5 38550 0 NA
18-12094214-C-T p.Asn52Asn synonymous ANKRD62 1 76942 1.29968E-5 38471 0 2.18535E-5
18-12094218-A-G p.Arg54Gly missense ANKRD62 1 76912 1.30019E-5 38456 0 NA
18-12094223-CAAG-C p.Lys57del disruptive_inframe_deletion ANKRD62 2 76802 2.6041E-5 38401 0 1.45798E-5
18-12094237-A-G c.176+3A>G splice_region ANKRD62 3 76498 3.92167E-5 38249 0 5.83643E-5
18-12095178-T-C p.Leu62Pro missense ANKRD62 2 77840 2.56937E-5 38920 0 NA
18-12095185-G-A p.Leu64Leu synonymous ANKRD62 9 77846 1.15613E-4 38923 0 1.27706E-4
18-12095187-C-T p.Ala65Val missense ANKRD62 1 77844 1.28462E-5 38922 0 7.06594E-6
18-12095188-G-A p.Ala65Ala synonymous ANKRD62 3 77846 3.85376E-5 38923 0 3.19203E-5
18-12095196-A-T p.His68Leu missense ANKRD62 1 77876 1.28409E-5 38938 0 NA
18-12095196-A-G p.His68Arg missense ANKRD62 1 77876 1.28409E-5 38938 0 NA
18-12095201-C-T p.Arg70Cys missense ANKRD62 1 77874 1.28413E-5 38937 0 2.11661E-5
18-12095202-G-A p.Arg70His missense ANKRD62 2 77882 2.56799E-5 38941 0 NA
18-12095204-C-G p.Pro71Ala missense ANKRD62 2 77892 2.56766E-5 38946 0 2.81976E-5
18-12095204-C-T p.Pro71Ser missense ANKRD62 1 77892 1.28383E-5 38946 0 7.0494E-6
18-12095206-A-C p.Pro71Pro synonymous ANKRD62 6 77910 7.70119E-5 38955 0 NA
18-12095221-C-G p.Asp76Glu missense ANKRD62 3 77984 3.84694E-5 38992 0 NA
18-12095231-A-C p.Arg80Arg synonymous ANKRD62 2 78062 2.56207E-5 39031 0 NA
18-12095235-A-G p.Lys81Arg missense ANKRD62 4 78122 5.1202E-5 39061 0 2.23342E-4
18-12095278-G-C p.Leu95Leu synonymous ANKRD62 1 78518 1.27359E-5 39259 0 6.25E-4
18-12095465-A-G p.Ala107Ala synonymous ANKRD62 1 78298 1.27717E-5 39149 0 NA
18-12095467-C-G p.Ser108Cys missense ANKRD62 1 78290 1.2773E-5 39145 0 NA
18-12095487-G-A p.Ala115Thr missense ANKRD62 4 78272 5.11038E-5 39136 0 2.07594E-5
18-12095500-TTAGAGA-T p.Arg120_Asp121del disruptive_inframe_deletion ANKRD62 3 78298 3.83152E-5 39149 0 5.79374E-5
18-12095510-G-A p.Met122Ile missense ANKRD62 473 78274 0.00604287 39137 9 0.0115345
18-12095528-G-C p.Leu128Leu synonymous ANKRD62 41 78292 5.23681E-4 39146 0 6.9185E-4
18-12095528-G-T p.Leu128Leu synonymous ANKRD62 3 78294 3.83171E-5 39147 0 4.64722E-5
18-12095531-C-T p.His129His synonymous ANKRD62 1 78290 1.2773E-5 39145 0 NA
18-12095538-A-G p.Ile132Val missense ANKRD62 1 78278 1.2775E-5 39139 0 NA
18-12095551-A-G p.Asn136Ser missense ANKRD62 1 78292 1.27727E-5 39146 0 NA
18-12095587-C-T p.Ala148Val missense ANKRD62 1 78258 1.27782E-5 39129 0 NA
18-12095612-A-G c.465+3A>G splice_region ANKRD62 2 78184 2.55807E-5 39092 0 1.21536E-4
18-12096218-C-T p.Leu163Leu synonymous ANKRD62 2 77090 2.59437E-5 38545 0 NA
18-12096243-A-G p.Met172Val missense ANKRD62 1 77198 1.29537E-5 38599 0 NA
18-12096249-G-T p.Ala174Ser missense ANKRD62 47701 76458 0.623885 38229 15136 0.63125
18-12096266-A-G p.Lys179Lys synonymous ANKRD62 340 77076 0.00441123 38538 4 0.00888592
18-12096270-C-A p.Pro181Thr missense ANKRD62 8 77008 1.03885E-4 38504 0 4.37573E-5
18-12096300-A-G p.Arg191Gly missense+splice_region ANKRD62 1 76550 1.30634E-5 38275 0 7.71676E-6
18-12096304-A-G c.572+3A>G splice_region ANKRD62 1 76364 1.30952E-5 38182 0 NA
18-12097643-G-A p.Ala193Thr missense ANKRD62 1 77724 1.2866E-5 38862 0 NA
18-12097683-T-C p.Val206Ala missense ANKRD62 3 77870 3.85257E-5 38935 0 6.36821E-5
18-12097684-C-T p.Val206Val synonymous ANKRD62 3 77868 3.85267E-5 38934 0 3.1841E-5
18-12097701-A-G p.His212Arg missense ANKRD62 2 77882 2.56799E-5 38941 0 NA
18-12097705-T-C p.Asn213Asn synonymous ANKRD62 1 77902 1.28366E-5 38951 0 NA
18-12097708-T-C p.Ile214Ile synonymous ANKRD62 17 77906 2.18212E-4 38953 0 1.73837E-4
18-12097728-T-C p.Ile221Thr missense ANKRD62 2 77950 2.56575E-5 38975 0 NA
18-12097743-C-A p.Ala226Glu missense ANKRD62 1 77976 1.28245E-5 38988 0 NA
18-12097753-C-T p.Tyr229Tyr synonymous ANKRD62 6 77980 7.69428E-5 38990 0 7.93662E-5
18-12097754-G-A p.Ala230Thr missense ANKRD62 5 77990 6.41108E-5 38995 0 3.18471E-5
18-12097761-C-T p.Ala232Val missense ANKRD62 1 78036 1.28146E-5 39018 0 NA
18-12097764-C-T p.Ser233Phe missense ANKRD62 13 78038 1.66586E-4 39019 0 4.82426E-4
18-12097776-C-T p.Ala237Val missense+splice_region ANKRD62 2 78042 2.56272E-5 39021 0 NA
18-12099606-A-T c.711-8A>T splice_region ANKRD62 1 73712 1.35663E-5 36856 0 NA
18-12099618-C-T p.Arg239Cys missense ANKRD62 1 73910 1.353E-5 36955 0 8.82363E-6
18-12099624-ATGATTTC-A p.Ile242fs frameshift ANKRD62 1 74112 1.34931E-5 37056 0 NA
18-12099625-T-C p.Met241Thr missense ANKRD62 1 74150 1.34862E-5 37075 0 NA
18-12099647-CAA-C p.Lys249fs frameshift ANKRD62 1 74370 1.34463E-5 37185 0 7.08617E-5
18-12099654-T-C p.Cys251Arg missense ANKRD62 45239 73094 0.618915 36547 14380 0.631875
18-12099655-G-A p.Cys251Tyr missense ANKRD62 2 74084 2.69964E-5 37042 0 7.07014E-5
18-12099660-A-T p.Ser253Cys missense ANKRD62 18 74404 2.41922E-4 37202 0 1.27518E-4
18-12099671-T-G p.Asn256Lys missense ANKRD62 1 73896 1.35325E-5 36948 0 6.37836E-5
18-12099673-G-A p.Ser257Asn missense ANKRD62 4 73614 5.43375E-5 36807 0 2.88268E-4
18-12099676-A-G p.Asn258Ser missense ANKRD62 2 73678 2.71451E-5 36839 0 NA
18-12103149-G-A c.779-8G>A splice_region ANKRD62 71 74736 9.50011E-4 37368 0 0.00162514
18-12103149-G-T c.779-8G>T splice_region ANKRD62 1 74740 1.33797E-5 37370 0 NA
18-12103167-A-G p.Leu263Leu synonymous ANKRD62 1 75138 1.33088E-5 37569 0 NA
18-12103184-G-C p.Gly269Ala missense ANKRD62 1 75300 1.32802E-5 37650 0 NA
18-12103197-G-T p.Arg273Ser missense ANKRD62 1 75150 1.33067E-5 37575 0 NA
18-12103199-T-C p.Leu274Pro missense ANKRD62 1 75286 1.32827E-5 37643 0 6.21659E-5
18-12103201-G-C p.Glu275Gln missense ANKRD62 2 75220 2.65887E-5 37610 0 NA
18-12103205-G-A p.Gly276Glu missense ANKRD62 1 74886 1.33536E-5 37443 0 9.55962E-5
18-12103206-A-G p.Gly276Gly synonymous ANKRD62 2 74852 2.67194E-5 37426 0 3.18532E-5
18-12103210-G-A p.Glu278Lys missense ANKRD62 1 74858 1.33586E-5 37429 0 1.11797E-5
18-12103221-G-A p.Gln281Gln synonymous ANKRD62 1 74728 1.33819E-5 37364 0 NA
18-12103224-A-G p.Pro282Pro synonymous ANKRD62 1 74744 1.3379E-5 37372 0 NA
18-12103232-G-A c.849+5G>A splice_region ANKRD62 2 74298 2.69186E-5 37149 1 NA
18-12107289-T-C c.850-5T>C splice_region ANKRD62 1 75564 1.32338E-5 37782 0 NA
18-12107290-G-A c.850-4G>A splice_region ANKRD62 1 75568 1.32331E-5 37784 0 NA
18-12107310-A-T p.Lys289Met missense ANKRD62 2 76108 2.62784E-5 38054 0 NA
18-12107347-C-T p.Asn301Asn synonymous ANKRD62 35 76448 4.57828E-4 38224 1 9.90415E-4
18-12107348-G-A p.Val302Ile missense ANKRD62 17 76562 2.22042E-4 38281 0 0.00141735
18-12107363-A-G p.Ser307Gly missense ANKRD62 1 76878 1.30076E-5 38439 0 NA
18-12107369-A-G p.Asn309Asp missense ANKRD62 6 76956 7.79666E-5 38478 0 1.39762E-4
18-12107372-TATA-T p.Asn311del conservative_inframe_deletion ANKRD62 44 76946 5.7183E-4 38473 0 9.2445E-4
18-12107377-T-G p.Asn311Lys missense ANKRD62 1 76978 1.29907E-5 38489 0 7.64807E-6
18-12107384-G-A p.Val314Ile missense ANKRD62 1 76990 1.29887E-5 38495 0 NA
18-12107401-C-CA p.Ile321fs frameshift ANKRD62 2 77020 2.59673E-5 38510 1 NA
18-12107413-C-G p.Asn323Lys missense ANKRD62 2 76872 2.60173E-5 38436 0 1.5808E-5
18-12107432-C-T p.Gln330* stop_gained ANKRD62 1 76666 1.30436E-5 38333 0 NA
18-12107434-A-G p.Gln330Gln synonymous ANKRD62 2 76654 2.60913E-5 38327 0 8.18518E-6
18-12107454-G-A p.Gly337Asp missense ANKRD62 1 76484 1.30746E-5 38242 0 3.18654E-5
18-12107456-G-A p.Glu338Lys missense ANKRD62 4 76476 5.2304E-5 38238 0 1.73406E-5
18-12107458-G-T p.Glu338Asp missense ANKRD62 1 76462 1.30784E-5 38231 0 NA
18-12107463-A-G p.Asp340Gly missense ANKRD62 2 76408 2.61753E-5 38204 0 NA
18-12107464-T-C p.Asp340Asp splice_region+synonymous ANKRD62 1 76400 1.3089E-5 38200 0 8.88652E-6
18-12115104-C-G p.Ser347Cys missense ANKRD62 1 73044 1.36904E-5 36522 0 1.33308E-5
18-12115108-T-C p.Asn348Asn synonymous ANKRD62 1 73100 1.36799E-5 36550 0 NA
18-12115116-G-A p.Ser351Asn missense ANKRD62 1 73476 1.36099E-5 36738 0 NA
18-12115121-GTAT-G c.1056+2_1056+4delTAT splice_donor ANKRD62 2 73722 2.71289E-5 36861 0 NA
18-12115388-A-G c.1057-4A>G splice_region ANKRD62 1 77968 1.28258E-5 38984 0 7.45101E-6
18-12115389-T-C c.1057-3T>C splice_region ANKRD62 2 77968 2.56515E-5 38984 0 7.4366E-6
18-12115407-T-A p.Tyr358Asn missense ANKRD62 10 78478 1.27424E-4 39239 0 7.91208E-5
18-12115414-C-T p.Thr360Met missense ANKRD62 1 78592 1.27239E-5 39296 0 6.37389E-5
18-12115415-G-A p.Thr360Thr synonymous ANKRD62 94 78628 0.0011955 39314 1 0.001875
18-12115427-T-C p.Asn364Asn synonymous ANKRD62 17 79018 2.15141E-4 39509 0 2.23001E-4
18-12115429-A-G p.Asp365Gly missense ANKRD62 3 79042 3.79545E-5 39521 0 7.01518E-6
18-12115431-A-T p.Ile366Leu missense ANKRD62 4 79092 5.0574E-5 39546 0 0.00135501
18-12115431-A-C p.Ile366Leu missense ANKRD62 1 79092 1.26435E-5 39546 0 7.00457E-6
18-12115446-G-GA p.Thr373fs frameshift ANKRD62 2 79280 2.5227E-5 39640 1 NA
18-12115460-GGAT-G p.Asp377del disruptive_inframe_deletion ANKRD62 22 79556 2.76535E-4 39778 0 2.85943E-4
18-12115475-TT-AA p.ProTyr380ProAsn missense ANKRD62 1 80234 1.24635E-5 40117 0 NA
18-12115490-G-C p.Glu385Asp missense ANKRD62 65 80732 8.05133E-4 40366 0 0.005625
18-12115497-A-T p.Met388Leu missense ANKRD62 1 80868 1.23658E-5 40434 0 NA
18-12115507-T-A p.Ile391Asn missense ANKRD62 2 80974 2.46993E-5 40487 0 6.75256E-6
18-12115509-G-A p.Glu392Lys missense ANKRD62 49548 79718 0.621541 39859 15642 0.627034
18-12115537-G-A c.1198+4G>A splice_region ANKRD62 1 80636 1.24014E-5 40318 0 2.05742E-5
18-12115538-G-A c.1198+5G>A splice_region ANKRD62 2 80582 2.48194E-5 40291 0 6.84781E-6
18-12115539-A-T c.1198+6A>T splice_region ANKRD62 1 80562 1.24128E-5 40281 0 NA
18-12115541-C-A c.1198+8C>A splice_region ANKRD62 2 80540 2.48324E-5 40270 0 9.89609E-5
18-12122296-T-A c.1199-6T>A splice_region ANKRD62 1 76474 1.30763E-5 38237 0 NA
18-12122298-A-G c.1199-4A>G splice_region ANKRD62 1 76530 1.30668E-5 38265 0 NA
18-12122315-A-G p.Leu404Leu synonymous ANKRD62 2 76810 2.60383E-5 38405 0 1.4753E-5
18-12122318-G-A p.Ser405Ser synonymous ANKRD62 2 76904 2.60064E-5 38452 0 4.4221E-5
18-12122329-A-G p.Asn409Ser missense ANKRD62 2 77096 2.59417E-5 38548 0 NA
18-12122331-G-A p.Ala410Thr missense ANKRD62 1 77088 1.29722E-5 38544 0 NA
18-12122332-C-T p.Ala410Val missense ANKRD62 1 77092 1.29715E-5 38546 0 1.46625E-5
18-12122342-A-G p.Ala413Ala synonymous ANKRD62 1 77182 1.29564E-5 38591 0 7.0373E-5
18-12122356-T-C p.Ile418Thr missense ANKRD62 3 77226 3.8847E-5 38613 0 1.27413E-4
18-12122360-G-A p.Glu419Glu synonymous ANKRD62 14 77238 1.81258E-4 38619 0 0.00125
18-12122363-TCAAAA-T p.Gln421fs frameshift ANKRD62 1 77232 1.2948E-5 38616 0 NA
18-12122368-A-ATTTTG p.Lys422fs frameshift ANKRD62 1 77276 1.29406E-5 38638 0 NA
18-12122370-T-C p.Cys423Arg missense ANKRD62 2 77282 2.58792E-5 38641 0 3.65433E-5
18-12122382-C-T p.Arg427* stop_gained ANKRD62 2 77274 2.58819E-5 38637 0 NA
18-12122383-G-A p.Arg427Gln missense ANKRD62 1 77278 1.29403E-5 38639 0 NA
18-12122390-A-T p.Lys429Asn missense ANKRD62 6 77278 7.76418E-5 38639 0 3.1839E-5
18-12122391-G-A p.Val430Ile missense ANKRD62 8 77260 1.03546E-4 38630 0 9.56999E-5
18-12122408-G-T p.Met435Ile missense ANKRD62 4 77270 5.17665E-5 38635 0 7.02839E-5
18-12122411-AAAT-A p.Asn438del disruptive_inframe_deletion ANKRD62 1 77278 1.29403E-5 38639 0 NA
18-12122418-A-G p.Ile439Val missense ANKRD62 1 77294 1.29376E-5 38647 0 NA
18-12122419-T-C p.Ile439Thr missense ANKRD62 3 77302 3.88088E-5 38651 0 9.55901E-5
18-12122423-C-T p.Ser440Ser synonymous ANKRD62 240 77268 0.00310607 38634 0 0.00605867
18-12122423-C-G p.Ser440Arg missense ANKRD62 399 77264 0.00516411 38632 4 0.0103635
18-12122424-G-A p.Val441Ile missense ANKRD62 2 77284 2.58786E-5 38642 0 7.01656E-5
18-12122424-G-T p.Val441Leu missense ANKRD62 1 77286 1.2939E-5 38643 0 7.28651E-6
18-12122425-T-G p.Val441Gly missense ANKRD62 127 77296 0.00164303 38648 0 0.00318695
18-12122436-G-C p.Val445Leu missense ANKRD62 1 77284 1.29393E-5 38642 0 NA
18-12122439-C-T p.Leu446Leu synonymous ANKRD62 1 77294 1.29376E-5 38647 0 NA
18-12122444-T-C p.Ser447Ser synonymous ANKRD62 1 77308 1.29353E-5 38654 0 NA
18-12122458-C-T p.Thr452Ile missense ANKRD62 4 77300 5.17464E-5 38650 0 7.00378E-5
18-12122480-G-C p.Gln459His missense ANKRD62 2 77242 2.58926E-5 38621 0 7.48357E-6
18-12122484-C-A p.Leu461Ile missense ANKRD62 1 77218 1.29503E-5 38609 0 NA
18-12122492-GA-G p.Lys466fs frameshift ANKRD62 1 77170 1.29584E-5 38585 0 6.51126E-5
18-12124133-C-T c.1413-3C>T splice_region ANKRD62 2 67568 2.95998E-5 33784 0 1.27592E-4
18-12124146-C-A p.Gln475Lys missense ANKRD62 1 68108 1.46826E-5 34054 0 NA
18-12124152-C-G p.Gln477Glu missense ANKRD62 14382 57186 0.251495 28593 2262 0.305202
18-12124155-G-C p.Glu478Gln missense ANKRD62 1 68438 1.46118E-5 34219 0 9.06733E-6
18-12124196-T-C p.Asp491Asp synonymous ANKRD62 178 70658 0.00251918 35329 1 0.00605751
18-12124215-A-G p.Met498Val missense ANKRD62 1 69704 1.43464E-5 34852 0 3.18817E-5
18-12124217-G-A p.Met498Ile missense ANKRD62 2 69700 2.86944E-5 34850 0 1.41824E-4
18-12124228-A-G p.Tyr502Cys missense ANKRD62 1 69284 1.44333E-5 34642 0 3.18979E-5
18-12124231-G-A p.Arg503Lys missense ANKRD62 1 69080 1.4476E-5 34540 0 1.70323E-5
18-12124240-C-G p.Thr506Ser missense ANKRD62 1 68510 1.45964E-5 34255 0 1.28033E-4
18-12124257-TCTAAA-T p.Lys513fs frameshift ANKRD62 4 67198 5.95256E-5 33599 0 4.25194E-5
18-12124264-T-G p.Leu514Arg missense ANKRD62 2 66298 3.01668E-5 33149 0 3.19836E-5
18-12124269-C-G p.Leu516Val missense ANKRD62 1 65624 1.52383E-5 32812 0 NA
18-12124275-T-C p.Ser518Pro missense ANKRD62 1 64860 1.54178E-5 32430 0 NA
18-12124319-G-C p.Gln532His missense+splice_region ANKRD62 1 54494 1.83506E-5 27247 0 8.6103E-5
18-12124321-T-C c.1596+2T>C splice_donor ANKRD62 4 54362 7.35808E-5 27181 0 3.23939E-5
18-12125471-CA-C p.His537fs frameshift ANKRD62 3 74052 4.05121E-5 37026 0 NA
18-12125471-C-T p.His537Tyr missense ANKRD62 1 74052 1.3504E-5 37026 0 NA
18-12125481-A-G p.Glu540Gly missense ANKRD62 1 75086 1.33181E-5 37543 0 3.18654E-5
18-12125482-A-G p.Glu540Glu synonymous ANKRD62 2 75208 2.65929E-5 37604 0 NA
18-12125488-C-A p.Asp542Glu missense ANKRD62 1 75684 1.32128E-5 37842 0 1.11393E-5
18-12125488-C-T p.Asp542Asp synonymous ANKRD62 3 75682 3.96395E-5 37841 0 6.3804E-5
18-12125495-C-A p.Gln545Lys missense ANKRD62 1 76006 1.31569E-5 38003 0 2.18929E-5
18-12125509-G-A p.Leu549Leu synonymous ANKRD62 1 76530 1.30668E-5 38265 0 3.18654E-5
18-12125513-C-T p.Arg551Trp missense ANKRD62 1 76546 1.3064E-5 38273 0 3.19101E-5
18-12125534-A-G p.Arg558Gly missense ANKRD62 1 76948 1.29958E-5 38474 0 NA
18-12125542-A-G p.Glu560Glu synonymous ANKRD62 1 77248 1.29453E-5 38624 0 NA
18-12125543-A-G p.Ile561Val missense ANKRD62 1 77254 1.29443E-5 38627 0 NA
18-12125544-T-C p.Ile561Thr missense ANKRD62 2 77250 2.589E-5 38625 0 NA
18-12125548-C-T p.Asp562Asp synonymous ANKRD62 1 77326 1.29323E-5 38663 0 NA
18-12125550-C-T p.Thr563Ile missense ANKRD62 19 77378 2.45548E-4 38689 0 6.38978E-5
18-12125570-G-A p.Glu570Lys missense ANKRD62 4 77546 5.15823E-5 38773 0 1.27502E-4
18-12125576-G-C p.Glu572Gln missense ANKRD62 1 77568 1.28919E-5 38784 0 NA
18-12125578-A-G p.Glu572Glu synonymous ANKRD62 1 77616 1.28839E-5 38808 0 NA
18-12125588-T-C p.Phe576Leu missense ANKRD62 1 77680 1.28733E-5 38840 0 NA
18-12125595-A-C p.Asp578Ala missense ANKRD62 1 77788 1.28555E-5 38894 0 NA
18-12125612-G-A p.Glu584Lys missense ANKRD62 2 77942 2.56601E-5 38971 0 NA
18-12125626-C-T p.Asp588Asp synonymous ANKRD62 2 78224 2.55676E-5 39112 0 NA
18-12125645-C-T p.Arg595Trp missense ANKRD62 43 78420 5.48329E-4 39210 0 8.28923E-4
18-12125645-C-A p.Arg595Arg synonymous ANKRD62 1 78420 1.27518E-5 39210 0 NA
18-12125646-G-A p.Arg595Gln missense ANKRD62 2 78456 2.5492E-5 39228 0 1.3914E-4
18-12125657-G-A p.Ala599Thr missense ANKRD62 49179 77764 0.632413 38882 15741 0.630625
18-12125659-A-G p.Ala599Ala synonymous ANKRD62 4 78632 5.08699E-5 39316 0 1.59215E-4
18-12125674-A-G p.Ile604Met missense ANKRD62 1 78772 1.26949E-5 39386 0 NA
18-12125678-C-T p.Arg606Trp missense ANKRD62 11 78750 1.39683E-4 39375 0 2.54907E-4
18-12125696-A-T p.Asn612Tyr missense ANKRD62 4 78942 5.06701E-5 39471 0 6.27274E-5
18-12125697-A-G p.Asn612Ser missense ANKRD62 5 78958 6.33248E-5 39479 0 3.4627E-5
18-12125699-G-A p.Val613Ile missense ANKRD62 1 78990 1.26598E-5 39495 0 6.24922E-5
18-12125702-C-T p.Leu614Leu synonymous ANKRD62 2 79038 2.53043E-5 39519 0 6.37024E-5
18-12125720-A-G p.Met620Val missense ANKRD62 1 79178 1.26298E-5 39589 0 NA
18-12125722-G-A p.Met620Ile missense ANKRD62 11 79206 1.38878E-4 39603 0 2.86551E-4
18-12125722-G-T p.Met620Ile missense ANKRD62 1 79206 1.26253E-5 39603 0 NA
18-12125723-C-T p.Leu621Phe missense ANKRD62 2 79194 2.52544E-5 39597 0 NA
18-12125754-GC-G p.Ser631fs frameshift ANKRD62 1 79650 1.25549E-5 39825 0 1.31108E-5
18-12125754-G-A p.Ser631Asn missense ANKRD62 1 79650 1.25549E-5 39825 0 NA
18-12125758-G-A p.Met632Ile missense ANKRD62 4 79712 5.01806E-5 39856 0 6.53432E-6
18-12125773-A-G p.Thr637Thr synonymous ANKRD62 1 79922 1.25122E-5 39961 0 2.58562E-5
18-12125789-C-T p.Arg643Cys missense ANKRD62 4 80038 4.99763E-5 40019 0 6.37186E-5
18-12125800-G-A p.Leu646Leu synonymous ANKRD62 2 80074 2.49769E-5 40037 0 NA
18-12125803-T-C p.Ala647Ala synonymous ANKRD62 1 80078 1.24878E-5 40039 0 6.44313E-6
18-12125812-A-G p.Leu650Leu synonymous ANKRD62 1 79922 1.25122E-5 39961 0 5.0638E-5
18-12125821-T-C p.His653His synonymous ANKRD62 1 79912 1.25138E-5 39956 0 NA
18-12125827-A-G p.Gln655Gln synonymous ANKRD62 2 79844 2.50488E-5 39922 0 NA
18-12125828-C-T p.Arg656Cys missense ANKRD62 1 79804 1.25307E-5 39902 0 1.28177E-5
18-12125829-G-A p.Arg656His missense ANKRD62 3 79786 3.76006E-5 39893 0 NA
18-12125832-A-C p.Gln657Pro missense ANKRD62 1 79816 1.25288E-5 39908 0 NA
18-12125842-A-T p.Lys660Asn missense ANKRD62 4 79724 5.01731E-5 39862 0 3.18451E-5
18-12125855-C-T p.Leu665Phe missense ANKRD62 1 79478 1.25821E-5 39739 0 NA
18-12125860-T-C p.Ala666Ala synonymous ANKRD62 2 79432 2.51788E-5 39716 0 5.07202E-5
18-12125878-T-C p.Asn672Asn synonymous ANKRD62 1 79142 1.26355E-5 39571 0 NA
18-12125887-T-C p.Cys675Cys synonymous ANKRD62 2 78966 2.53274E-5 39483 0 2.00304E-5
18-12125896-A-G p.Gln678Gln synonymous ANKRD62 1 78856 1.26813E-5 39428 0 5.50116E-5
18-12125900-G-A p.Asp680Asn missense ANKRD62 1 78812 1.26884E-5 39406 0 NA
18-12125915-A-G p.Ile685Val missense ANKRD62 1 78610 1.2721E-5 39305 0 NA
18-12125918-C-G p.Gln686Glu missense ANKRD62 1 78568 1.27278E-5 39284 0 8.27495E-5
18-12125920-G-C p.Gln686His missense ANKRD62 2 78566 2.54563E-5 39283 0 5.86373E-5
18-12125933-C-A p.Gln691Lys missense ANKRD62 1 78488 1.27408E-5 39244 0 NA
18-12125945-G-T p.Ala695Ser missense ANKRD62 1 78440 1.27486E-5 39220 0 NA
18-12125948-G-GA p.Ser697fs frameshift ANKRD62 2 78442 2.54965E-5 39221 0 NA
18-12125948-G-C p.Glu696Gln missense ANKRD62 1 78442 1.27483E-5 39221 0 NA
18-12125968-G-C p.Leu702Leu synonymous ANKRD62 2 78350 2.55265E-5 39175 0 NA
18-12125969-G-A p.Glu703Lys missense ANKRD62 1 78334 1.27658E-5 39167 0 1.41583E-5
18-12125981-C-T p.His707Tyr missense ANKRD62 1 78314 1.27691E-5 39157 0 7.10601E-6
18-12126012-C-T p.Thr717Met missense ANKRD62 1 78136 1.27982E-5 39068 0 6.47203E-5
18-12126037-A-T p.Gly725Gly synonymous ANKRD62 1 78002 1.28202E-5 39001 0 NA
18-12126038-G-A p.Val726Ile missense ANKRD62 1 77996 1.28212E-5 38998 0 7.22209E-6
18-12126040-C-T p.Val726Val synonymous ANKRD62 5 77984 6.41157E-5 38992 0 2.88884E-5
18-12126051-C-T p.Thr730Ile missense ANKRD62 2 77944 2.56594E-5 38972 0 7.23087E-6
18-12126052-A-G p.Thr730Thr synonymous ANKRD62 1 77938 1.28307E-5 38969 0 4.3389E-5
18-12126056-C-T p.Arg732Cys missense ANKRD62 3 77918 3.8502E-5 38959 0 6.83807E-5
18-12126060-G-A p.Arg733Gln missense ANKRD62 1 77918 1.2834E-5 38959 0 6.84932E-5
18-12126071-A-G p.Ile737Val missense ANKRD62 1 77916 1.28343E-5 38958 0 1.45039E-5
18-12126078-A-G p.His739Arg missense ANKRD62 1 77906 1.2836E-5 38953 0 7.25847E-6
18-12126079-CAT-C p.Met740fs frameshift ANKRD62 1 77910 1.28353E-5 38955 0 2.17729E-5
18-12126080-A-G p.Met740Val missense ANKRD62 1 77902 1.28366E-5 38951 0 NA
18-12126081-T-C p.Met740Thr missense ANKRD62 1 77904 1.28363E-5 38952 0 NA
18-12126094-C-T p.Asp744Asp synonymous ANKRD62 1 77902 1.28366E-5 38951 0 NA
18-12126099-C-T p.Pro746Leu missense ANKRD62 1 77876 1.28409E-5 38938 0 NA
18-12126112-A-T p.Lys750Asn missense ANKRD62 2 77866 2.56852E-5 38933 0 NA
18-12126115-C-T p.Tyr751Tyr synonymous ANKRD62 3 77846 3.85376E-5 38923 0 2.10113E-4
18-12126116-G-T p.Val752Leu missense ANKRD62 1 77852 1.28449E-5 38926 0 NA
18-12126120-G-A p.Arg753Lys missense ANKRD62 3 77860 3.85307E-5 38930 0 1.23743E-4
18-12126124-G-A p.Lys754Lys synonymous ANKRD62 711 77848 0.00913318 38924 22 0.0177718
18-12126142-T-C p.Asp760Asp synonymous ANKRD62 1 77876 1.28409E-5 38938 0 NA
18-12126148-A-G p.Leu762Leu synonymous ANKRD62 1 77880 1.28403E-5 38940 0 7.28258E-6
18-12126152-C-G p.Gln764Glu missense ANKRD62 2 77870 2.56838E-5 38935 0 NA
18-12126156-T-A p.Leu765Gln missense ANKRD62 1 77878 1.28406E-5 38939 0 NA
18-12126170-C-T p.Leu770Leu synonymous ANKRD62 2 77876 2.56819E-5 38938 0 NA
18-12126170-C-G p.Leu770Val missense ANKRD62 1 77876 1.28409E-5 38938 0 3.18492E-5
18-12126187-G-A p.Gln775Gln synonymous ANKRD62 2 77918 2.5668E-5 38959 0 3.1841E-5
18-12126191-A-G p.Asn777Asp missense ANKRD62 2 77930 2.56641E-5 38965 0 7.26723E-6
18-12126192-A-G p.Asn777Ser missense ANKRD62 1 77926 1.28327E-5 38963 0 7.26744E-6
18-12126198-C-T p.Ala779Val missense ANKRD62 4 77930 5.13281E-5 38965 0 6.36983E-5
18-12126200-C-T p.Arg780Cys missense ANKRD62 1 77930 1.2832E-5 38965 0 3.18532E-5
18-12126219-A-G p.Gln786Arg missense ANKRD62 1 77930 1.2832E-5 38965 0 NA
18-12126262-T-C p.Thr800Thr synonymous ANKRD62 1 77884 1.28396E-5 38942 0 NA
18-12126263-G-A p.Val801Ile missense ANKRD62 16 77880 2.05444E-4 38940 0 2.54777E-4
18-12126265-A-C p.Val801Val synonymous ANKRD62 1 77868 1.28422E-5 38934 0 NA
18-12126304-C-G p.Asn814Lys missense ANKRD62 133 77852 0.00170837 38926 0 0.00232165
18-12126312-G-C p.Gly817Ala missense ANKRD62 1 77894 1.2838E-5 38947 0 NA
18-12126312-G-A p.Gly817Glu missense ANKRD62 1 77894 1.2838E-5 38947 0 4.93444E-4
18-12126323-G-C p.Glu821Gln missense ANKRD62 1 77946 1.28294E-5 38973 0 NA
18-12126327-GCAC-G p.Thr823del disruptive_inframe_deletion ANKRD62 1 77948 1.28291E-5 38974 0 NA
18-12126327-G-T p.Cys822Phe missense ANKRD62 1 77948 1.28291E-5 38974 0 7.60364E-6
18-12126351-G-A p.Cys830Tyr missense ANKRD62 4 78194 5.11548E-5 39097 0 1.65164E-5
18-12126356-T-C p.Tyr832His missense ANKRD62 1 78166 1.27933E-5 39083 0 8.37731E-6
18-12126371-GAAGA-G p.Arg839fs frameshift ANKRD62 1 78152 1.27956E-5 39076 0 NA
18-12127739-C-T c.2521-8C>T splice_region ANKRD62 666 73394 0.00907431 36697 21 0.0166284
18-12127746-G-GGTA p.Val842dup disruptive_inframe_insertion ANKRD62 1 73812 1.35479E-5 36906 0 1.65333E-5
18-12127769-G-T p.Arg848Leu missense ANKRD62 1 74888 1.33533E-5 37444 0 1.1829E-5
18-12127769-G-A p.Arg848Gln missense ANKRD62 2 74888 2.67065E-5 37444 0 NA
18-12127780-G-A p.Asp852Asn missense ANKRD62 2 75762 2.63985E-5 37881 0 9.83497E-6
18-12127786-C-T p.Leu854Leu synonymous ANKRD62 1 76216 1.31206E-5 38108 0 3.18532E-5
18-12127786-C-A p.Leu854Met missense ANKRD62 1 76216 1.31206E-5 38108 0 NA
18-12127787-T-G p.Leu854Arg missense ANKRD62 1 76274 1.31106E-5 38137 0 1.05485E-4
18-12127789-A-C p.Asn855His missense ANKRD62 6 76566 7.83638E-5 38283 0 1.13853E-4
18-12127795-C-A p.Gln857Lys missense ANKRD62 2 76602 2.6109E-5 38301 0 6.37186E-5
18-12127798-T-G p.Leu858Val missense ANKRD62 2 76628 2.61001E-5 38314 0 NA
18-12127813-A-G p.Met863Val missense ANKRD62 1 77126 1.29658E-5 38563 0 NA
18-12127830-A-G p.Ser868Ser synonymous ANKRD62 1 77222 1.29497E-5 38611 0 3.1839E-5
18-12127834-C-T p.Arg870Cys missense ANKRD62 2 77224 2.58987E-5 38612 0 NA
18-12127835-G-A p.Arg870His missense ANKRD62 6 77236 7.7684E-5 38618 0 3.83036E-5
18-12127837-C-T p.Arg871Cys missense ANKRD62 1 77220 1.295E-5 38610 0 NA
18-12127838-G-T p.Arg871Leu missense ANKRD62 2 77260 2.58866E-5 38630 0 4.30601E-4
18-12127838-G-A p.Arg871His missense ANKRD62 1 77260 1.29433E-5 38630 0 3.18654E-5
18-12127865-G-A p.Ser880Asn missense ANKRD62 1 77318 1.29336E-5 38659 0 1.52107E-5
18-12127874-A-C p.Lys883Thr missense ANKRD62 6 77308 7.76116E-5 38654 0 9.55414E-5
18-12127880-T-C p.Leu885Ser missense ANKRD62 810 77230 0.0104882 38615 5 0.0112818
18-12127889-T-C p.Met888Thr missense ANKRD62 1 77228 1.29487E-5 38614 0 7.79484E-6
18-12127921-T-C p.Ser899Pro missense ANKRD62 1 76138 1.3134E-5 38069 0 1.048E-4
18-12127927-G-T p.Val901Phe missense ANKRD62 1 75922 1.31714E-5 37961 0 NA
18-12129746-CAAAAAA-C n.3826_*4delAAAAAA splice_region ANKRD62 915 26896 0.0340199 13448 88 0.302304
18-12129746-CAAA-C n.3826_*1delAAA splice_region ANKRD62 69 27988 0.00246534 13994 8 0.214816
18-12129746-CAAAAA-C n.3826_*3delAAAAA splice_region ANKRD62 93 28034 0.0033174 14017 6 NA
18-12129746-CAAAAAAAA-C n.3826_*6delAAAAAAAA splice_region ANKRD62 60 28148 0.00213159 14074 0 NA
18-12129746-CAAAA-C n.3826_*2delAAAA splice_region ANKRD62 50 28082 0.0017805 14041 3 0.0197891
18-12129746-CAAAAAAA-C n.3826_*5delAAAAAAA splice_region ANKRD62 309 27888 0.01108 13944 3 NA
18-12129746-CAAAAAAAAAA-C n.3826_*8delAAAAAAAAAA splice_region ANKRD62 4 28246 1.41613E-4 14123 0 NA
18-12129746-CAAAAAAAAA-C n.3826_*7delAAAAAAAAA splice_region ANKRD62 9 28236 3.18742E-4 14118 0 NA