Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-117864716-C-T c.-169C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 2 77068 2.59511E-5 38534 0 NA
7-117864732-A-G c.-153A>G 5_prime_UTR_premature_start_codon_gain ANKRD7 6 78320 7.66088E-5 39160 0 3.18695E-5
7-117864738-C-T c.-147C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 3 78652 3.81427E-5 39326 0 NA
7-117864795-C-T c.-90C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 1 81282 1.23028E-5 40641 0 NA
7-117864799-C-T c.-86C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 1 81494 1.22708E-5 40747 0 NA
7-117864891-A-C p.Lys3Gln missense ANKRD7 1 83268 1.20094E-5 41634 0 NA
7-117864893-G-A p.Lys3Lys synonymous ANKRD7 2 83276 2.40165E-5 41638 0 NA
7-117864894-CT-C p.Phe5fs frameshift ANKRD7 1 83280 1.20077E-5 41640 0 8.33181E-6
7-117864898-T-C p.Phe5Ser missense ANKRD7 1 83278 1.2008E-5 41639 0 3.18634E-5
7-117864906-T-C p.Trp8Arg missense ANKRD7 1 83284 1.20071E-5 41642 0 4.02272E-6
7-117864928-G-A p.Arg15His missense ANKRD7 1 83298 1.20051E-5 41649 0 NA
7-117864931-G-A p.Ser16Asn missense ANKRD7 2 83300 2.40096E-5 41650 0 3.18532E-5
7-117864944-C-A p.Asn20Lys missense ANKRD7 2 83340 2.39981E-5 41670 0 4.01794E-6
7-117864949-G-C p.Arg22Pro missense ANKRD7 53 83338 6.35964E-4 41669 0 6.29514E-4
7-117864949-G-A p.Arg22Gln missense ANKRD7 1 83338 1.19993E-5 41669 0 3.18532E-5
7-117864954-A-C p.Lys24Gln missense ANKRD7 2 83350 2.39952E-5 41675 0 4.02214E-6
7-117864957-G-C p.Asp25His missense ANKRD7 1 83354 1.1997E-5 41677 0 4.02285E-6
7-117864989-C-T c.-55C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 2 83298 2.40102E-5 41649 0 3.18695E-5
7-117864994-A-G p.Asp37Gly missense ANKRD7 1 83290 1.20062E-5 41645 0 NA
7-117865005-C-T c.-39C>T 5_prime_UTR_premature_start_codon_gain ANKRD7 1 83298 1.20051E-5 41649 0 3.18532E-5
7-117865006-T-C p.Leu41Pro missense ANKRD7 1 83282 1.20074E-5 41641 0 NA
7-117865017-C-T p.Leu45Phe missense ANKRD7 1 83246 1.20126E-5 41623 0 NA
7-117865028-G-T p.Lys48Asn missense ANKRD7 373 83164 0.00448511 41582 6 0.00857125
7-117865028-G-A p.Lys48Lys synonymous ANKRD7 1467 83138 0.0176454 41569 27 0.0292854
7-117865034-T-G p.Tyr50* stop_gained ANKRD7 1 83114 1.20317E-5 41557 0 NA
7-117865036-A-C p.Asp51Ala missense ANKRD7 1 83088 1.20354E-5 41544 0 NA
7-117865045-T-C p.Met1? start_lost ANKRD7 7 82896 8.44432E-5 41448 0 6.669E-5
7-117865052-CA-C p.Lys58fs frameshift ANKRD7 1 82704 1.20913E-5 41352 0 3.19693E-5
7-117865058-A-G p.Lys58Lys synonymous ANKRD7 1 82562 1.21121E-5 41281 0 NA
7-117865058-A-T p.Lys58Asn missense ANKRD7 1 82562 1.21121E-5 41281 0 2.02613E-5
7-117865069-C-T c.179+6C>T splice_region ANKRD7 2 82184 2.43356E-5 41092 0 NA
7-117867978-A-T c.180-8A>T splice_region ANKRD7 1 78046 1.2813E-5 39023 0 3.35909E-5
7-117867986-T-C p.Ser60Ser splice_region+synonymous ANKRD7 1 78206 1.27867E-5 39103 0 3.04275E-5
7-117867997-C-T p.Ser64Phe missense ANKRD7 50 78170 6.39632E-4 39085 1 0.00107824
7-117868000-C-T p.Ser65Phe missense ANKRD7 1 78262 1.27776E-5 39131 0 NA
7-117868001-T-C p.Ser65Ser synonymous ANKRD7 1 78262 1.27776E-5 39131 0 4.80257E-6
7-117868003-G-C p.Arg66Thr missense ANKRD7 82 78262 0.00104776 39131 1 0.00297541
7-117868024-C-T p.Thr73Ile missense ANKRD7 10 77808 1.28521E-4 38904 0 1.92012E-4
7-117868027-C-T p.Pro74Leu missense ANKRD7 209 77718 0.00268921 38859 1 0.0037962
7-117868028-G-A p.Pro74Pro synonymous ANKRD7 3 77312 3.88038E-5 38656 0 8.16771E-5
7-117868037-C-T p.Asp77Asp synonymous ANKRD7 2 77102 2.59397E-5 38551 0 3.19836E-5
7-117868045-G-A p.Arg80Lys missense+splice_region ANKRD7 3 76896 3.90137E-5 38448 0 6.25E-4
7-117874484-G-T c.180-1G>T splice_acceptor ANKRD7 1 82318 1.2148E-5 41159 0 NA
7-117874487-C-T p.Thr61Ile missense+splice_region ANKRD7 1 82376 1.21395E-5 41188 0 9.06043E-6
7-117874498-C-G p.Leu65Val missense ANKRD7 1 82852 1.20697E-5 41426 0 6.37105E-5
7-117874507-G-A p.Ala68Thr missense ANKRD7 8 82960 9.6432E-5 41480 0 1.0016E-4
7-117874516-C-A p.His71Asn missense ANKRD7 1 83018 1.20456E-5 41509 0 NA
7-117874517-A-G p.His71Arg missense ANKRD7 220 83006 0.00265041 41503 4 0.00487416
7-117874528-G-T p.Val75Leu missense ANKRD7 1 83078 1.20369E-5 41539 0 4.0191E-6
7-117874528-G-A p.Val75Ile missense ANKRD7 2 83078 2.40738E-5 41539 0 NA
7-117874541-T-C p.Ile79Thr missense ANKRD7 1 83106 1.20328E-5 41553 0 3.18492E-5
7-117874545-G-C p.Glu80Asp missense ANKRD7 1 83114 1.20317E-5 41557 0 NA
7-117874548-A-G p.Gln81Gln synonymous ANKRD7 4 83122 4.8122E-5 41561 0 4.0169E-6
7-117874551-A-G p.Gln82Gln synonymous ANKRD7 1 83128 1.20296E-5 41564 0 4.01677E-6
7-117874553-G-C p.Cys83Ser missense ANKRD7 1 83132 1.20291E-5 41566 0 NA
7-117874567-C-T p.Arg88Trp missense ANKRD7 2 83140 2.40558E-5 41570 0 0.00100806
7-117874568-G-A p.Arg88Gln missense ANKRD7 5 83136 6.01424E-5 41568 0 1.20831E-5
7-117874569-G-A p.Arg88Arg synonymous ANKRD7 19 83136 2.28541E-4 41568 1 1.59297E-4
7-117874575-T-C p.Ser90Ser synonymous ANKRD7 5 83142 6.01381E-5 41571 0 5.5362E-4
7-117874580-A-G p.Asn92Ser missense ANKRD7 1 83142 1.20276E-5 41571 0 3.18431E-5
7-117874585-T-A p.Ser94Thr missense ANKRD7 1 83104 1.20331E-5 41552 0 NA
7-117874593-G-C p.Leu96Phe missense ANKRD7 1 83114 1.20317E-5 41557 0 1.6909E-5
7-117874604-G-T c.294+5G>T splice_region ANKRD7 2 83086 2.40714E-5 41543 0 NA
7-117874747-A-G c.295-8A>G splice_region ANKRD7 1 83084 1.2036E-5 41542 0 NA
7-117874758-G-C p.Val100Leu missense ANKRD7 1 83096 1.20343E-5 41548 0 3.18471E-5
7-117874769-A-G p.Gln103Gln synonymous ANKRD7 1 83120 1.20308E-5 41560 0 3.1839E-5
7-117874773-G-T p.Glu105* stop_gained ANKRD7 1 83120 1.20308E-5 41560 0 4.10617E-6
7-117874775-G-A p.Glu105Glu synonymous ANKRD7 2 83122 2.4061E-5 41561 0 8.17281E-6
7-117874776-G-A p.Asp106Asn missense ANKRD7 2 83124 2.40604E-5 41562 0 1.8419E-4
7-117874788-A-C p.Ile110Leu missense ANKRD7 1 83164 1.20244E-5 41582 0 NA
7-117874789-T-C p.Ile110Thr missense ANKRD7 1 83168 1.20239E-5 41584 0 NA
7-117874795-TA-T p.Asn113fs frameshift ANKRD7 1 83168 1.20239E-5 41584 0 NA
7-117874809-G-A p.Asp117Asn missense ANKRD7 4 83198 4.80781E-5 41599 0 NA
7-117874830-C-T p.Arg124Cys missense ANKRD7 2 83212 2.4035E-5 41606 0 2.01524E-5
7-117874831-G-A p.Arg124His missense ANKRD7 10 83212 1.20175E-4 41606 0 4.46002E-4
7-117874841-T-C p.Thr127Thr synonymous ANKRD7 1 83222 1.20161E-5 41611 0 NA
7-117874889-A-G p.Lys143Lys synonymous ANKRD7 1 83200 1.20192E-5 41600 0 3.18512E-5
7-117874897-A-T p.Glu146Val missense ANKRD7 4 83192 4.80815E-5 41596 0 1.59246E-4
7-117874901-C-T p.Tyr147Tyr synonymous ANKRD7 3 83158 3.60759E-5 41579 0 1.26243E-5
7-117874908-G-C p.Asp150His missense ANKRD7 2 83064 2.40778E-5 41532 0 NA
7-117874918-C-G p.Ala153Gly missense ANKRD7 2 82858 2.41377E-5 41429 0 9.09355E-6
7-117874919-G-A p.Ala153Ala synonymous ANKRD7 22 82932 2.65278E-4 41466 0 7.35717E-4
7-117874919-G-T p.Ala153Ala synonymous ANKRD7 1 82932 1.20581E-5 41466 0 3.19877E-5
7-117874925-T-C p.Asn155Asn synonymous ANKRD7 1 82938 1.20572E-5 41469 0 9.67661E-6
7-117874931-A-G c.468+3A>G splice_region ANKRD7 1 82866 1.20677E-5 41433 0 NA
7-117874934-TTTCTA-T c.468+7_468+11delTTCTA splice_region ANKRD7 1 82804 1.20767E-5 41402 0 NA
7-117874936-T-C c.468+8T>C splice_region ANKRD7 64 82768 7.73246E-4 41384 1 0.00184843
7-117876087-T-A c.469-8T>A splice_region ANKRD7 1 80094 1.24853E-5 40047 0 NA
7-117876093-A-C c.469-2A>C splice_acceptor ANKRD7 1 80740 1.23854E-5 40370 0 NA
7-117876101-T-C p.Tyr159His missense ANKRD7 1 81622 1.22516E-5 40811 0 3.18512E-5
7-117876112-A-G p.Leu162Leu synonymous ANKRD7 1 82040 1.21892E-5 41020 0 NA
7-117876122-G-A p.Val166Ile missense ANKRD7 139 82174 0.00169153 41087 1 0.0026392
7-117876122-G-C p.Val166Leu missense ANKRD7 1 82180 1.21684E-5 41090 0 NA
7-117876124-T-C p.Val166Val synonymous ANKRD7 6 82280 7.29217E-5 41140 0 6.26566E-4
7-117876150-A-C p.Lys175Thr missense ANKRD7 1 82318 1.2148E-5 41159 0 8.30096E-6
7-117876160-G-A p.Leu178Leu synonymous ANKRD7 2 82224 2.43238E-5 41112 0 2.49107E-5
7-117876163-G-C p.Glu179Asp missense ANKRD7 1 82216 1.21631E-5 41108 0 4.02703E-6
7-117876176-G-A p.Val184Met missense ANKRD7 2 81944 2.44069E-5 40972 0 3.18817E-5
7-117876846-C-G p.Thr193Arg missense+splice_region ANKRD7 3 83214 3.60516E-5 41607 0 4.02405E-6
7-117876848-G-T p.Ala194Ser missense ANKRD7 1 83218 1.20166E-5 41609 0 NA
7-117876854-A-G p.Ile196Val missense ANKRD7 2 83230 2.40298E-5 41615 0 NA
7-117876862-T-C p.Ala198Ala synonymous ANKRD7 1 83250 1.2012E-5 41625 0 1.6584E-5
7-117876892-GCTT-G p.Leu211del disruptive_inframe_deletion ANKRD7 1 83262 1.20103E-5 41631 0 NA
7-117876913-G-T p.Val215Val synonymous ANKRD7 1 83260 1.20106E-5 41630 0 NA
7-117876920-T-C p.Cys218Arg missense ANKRD7 1 83270 1.20091E-5 41635 0 NA
7-117876925-C-T p.Tyr219Tyr synonymous ANKRD7 1 83258 1.20109E-5 41629 0 3.31274E-5
7-117876926-G-A p.Glu220Lys missense ANKRD7 41 83254 4.92469E-4 41627 0 0.00216519
7-117876929-G-C p.Gly221Arg missense ANKRD7 1 83266 1.20097E-5 41633 0 NA
7-117876935-G-A p.Val223Met missense ANKRD7 9 83270 1.08082E-4 41635 0 1.08236E-4
7-117876936-T-G p.Val223Gly missense ANKRD7 2 83266 2.40194E-5 41633 0 2.48472E-5
7-117876937-G-A p.Val223Val synonymous ANKRD7 5 83264 6.005E-5 41632 0 8.8206E-5
7-117876958-G-GT p.Ile232fs frameshift ANKRD7 4 83216 4.80677E-5 41608 0 5.04032E-4
7-117876969-T-C p.Met234Thr missense ANKRD7 1 83188 1.2021E-5 41594 0 6.36943E-5
7-117876970-G-A p.Met234Ile missense ANKRD7 1 83178 1.20224E-5 41589 0 4.0139E-6
7-117876980-C-T p.His238Tyr missense+splice_region ANKRD7 3 83154 3.60776E-5 41577 0 5.22697E-5
7-117876981-G-A c.712+1G>A splice_donor ANKRD7 2 83152 2.40523E-5 41576 0 0.0025
7-117879959-A-G c.713-4A>G splice_region ANKRD7 22 81068 2.71377E-4 40534 0 8.60256E-4
7-117879968-T-C p.Tyr240His missense ANKRD7 171 81220 0.00210539 40610 0 0.0020141
7-117879984-C-T p.Arg191* stop_gained ANKRD7 4 81618 4.90088E-5 40809 0 4.05413E-5
7-117879993-G-A p.Gly248Glu missense ANKRD7 1 81802 1.22246E-5 40901 0 4.04557E-6
7-117879999-A-G p.Lys250Arg missense ANKRD7 7 81898 8.54722E-5 40949 0 4.44552E-5
7-117880006-T-C p.Met198Thr missense ANKRD7 2 81840 2.44379E-5 40920 0 1.21573E-5
7-117880007-G-A p.Ala253Thr missense ANKRD7 4 81836 4.88782E-5 40918 0 1.69713E-4
7-117880016-A-G p.Arg201Arg synonymous ANKRD7 1 81598 1.22552E-5 40799 0 1.22274E-5