Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-145916535-G-A p.Ser183Leu missense ANAPC10 7 82622 8.47232E-5 41311 0 2.24667E-4
4-145916552-A-G p.Asp177Asp synonymous ANAPC10 1 82794 1.20782E-5 41397 0 NA
4-145916580-C-T p.Gly168Asp missense ANAPC10 5 82964 6.02671E-5 41482 0 8.28954E-6
4-145916586-G-C p.Ser166Cys missense ANAPC10 1 82990 1.20496E-5 41495 0 4.01419E-6
4-145916597-T-C p.Val162Val synonymous ANAPC10 4 83042 4.81684E-5 41521 0 6.25E-4
4-145916602-G-GT p.Pro161fs frameshift ANAPC10 1 83056 1.20401E-5 41528 0 NA
4-145916614-T-C p.Lys157Glu missense ANAPC10 1 83082 1.20363E-5 41541 0 NA
4-145916642-A-G p.Asn147Asn synonymous ANAPC10 3 83116 3.60941E-5 41558 0 1.59307E-4
4-145916648-G-A p.His145His synonymous ANAPC10 2 83094 2.40691E-5 41547 0 2.40647E-5
4-145916660-A-ATGT p.Val141_Leu142insHis disruptive_inframe_insertion ANAPC10 1 83078 1.20369E-5 41539 0 NA
4-145916666-A-C p.Ile139Met missense ANAPC10 115 83064 0.00138447 41532 0 0.00254826
4-145916668-T-C p.Ile139Val missense ANAPC10 1 83054 1.20404E-5 41527 0 NA
4-145916688-G-A p.Thr132Ile missense ANAPC10 3 83030 3.61315E-5 41515 0 NA
4-145916690-T-C p.Pro131Pro synonymous ANAPC10 2 83018 2.40912E-5 41509 0 NA
4-145916692-G-A p.Pro131Ser missense ANAPC10 1 83006 1.20473E-5 41503 0 3.18756E-5
4-145916692-G-C p.Pro131Ala missense ANAPC10 1 83006 1.20473E-5 41503 0 8.28844E-6
4-145916700-T-A p.His128Leu missense ANAPC10 1 82974 1.2052E-5 41487 0 NA
4-145916703-T-C p.Asn127Ser missense ANAPC10 1 82944 1.20563E-5 41472 0 4.01506E-6
4-145916707-C-T p.Asp126Asn missense ANAPC10 7 82916 8.44228E-5 41458 0 NA
4-145916709-G-A p.Thr125Ile missense ANAPC10 1 82900 1.20627E-5 41450 0 4.01887E-6
4-145916716-G-C p.Pro123Ala missense ANAPC10 110 82862 0.00132751 41431 0 0.00111564
4-145916729-G-A p.Gly118Gly synonymous ANAPC10 3 82722 3.6266E-5 41361 0 3.18552E-5
4-145916731-C-T p.Gly118Ser missense ANAPC10 2 82718 2.41785E-5 41359 0 NA
4-145916755-GCTGCC-G c.328-5_328-1delGGCAG splice_acceptor ANAPC10 1 82380 1.21389E-5 41190 0 NA
4-145916762-AGGG-A c.328-10_328-8delCCC splice_region ANAPC10 1 82250 1.21581E-5 41125 0 NA
4-145916763-G-C c.328-8C>G splice_region ANAPC10 3 82210 3.64919E-5 41105 0 3.18433E-4
4-145974892-T-G p.Gln123Pro missense ANAPC10 294 8634 0.0340514 4317 8 0.0619524
4-145974899-T-C p.Asn121Asp missense ANAPC10 1 8760 1.14155E-4 4380 0 NA
4-145974904-G-C p.Ser119* stop_gained ANAPC10 1 8738 1.14443E-4 4369 0 NA
4-145974918-A-G p.His114His synonymous ANAPC10 1 9046 1.10546E-4 4523 0 NA
4-145974928-T-C p.His111Arg missense ANAPC10 1 9046 1.10546E-4 4523 0 0.00140337
4-145974935-GA-G c.328-4delT splice_region ANAPC10 72 7866 0.00915332 3933 0 0.288831
4-145974935-G-GA c.328-4_328-3insT splice_region ANAPC10 35 8520 0.00410798 4260 0 0.169413
4-145974935-GAA-G c.328-5_328-4delTT splice_region ANAPC10 4 8870 4.50958E-4 4435 0 0.00765223
4-145974935-GAAA-G c.328-6_328-4delTTT splice_region ANAPC10 1 8884 1.12562E-4 4442 0 5.15027E-4
4-145985521-T-C n.374-8A>G splice_region ANAPC10 1 46194 2.16478E-5 23097 0 NA
4-145985728-AT-A p.Ile108fs frameshift ANAPC10 1 82612 1.21048E-5 41306 0 NA
4-145985740-T-C p.Asn104Ser missense ANAPC10 2 82738 2.41727E-5 41369 0 6.38081E-5
4-145985742-G-A p.His103His synonymous ANAPC10 14 82748 1.69188E-4 41374 0 1.16507E-4
4-145985759-C-A p.Val98Leu missense ANAPC10 2 82816 2.41499E-5 41408 0 2.49468E-5
4-145985778-T-C p.Pro91Pro synonymous ANAPC10 1 82840 1.20715E-5 41420 0 NA
4-146002695-G-C n.815C>G splice_region ANAPC10 22 68102 3.23045E-4 34051 0 1.59724E-4
4-146002856-C-T p.Trp54* stop_gained ANAPC10 1 83108 1.20325E-5 41554 0 4.01146E-6
4-146002859-A-G p.Tyr53Tyr synonymous ANAPC10 10 83112 1.2032E-4 41556 0 6.37308E-5
4-146002880-T-C p.Arg46Arg synonymous ANAPC10 1 83114 1.20317E-5 41557 0 NA
4-146002881-C-T p.Arg46Gln missense ANAPC10 5 83100 6.01685E-5 41550 0 7.62128E-5
4-146002894-C-G p.Val42Leu missense ANAPC10 2 83078 2.40738E-5 41539 0 4.017E-6
4-146002907-A-G c.116-5T>C splice_region ANAPC10 2 82984 2.4101E-5 41492 0 NA
4-146002909-A-G c.116-7T>C splice_region ANAPC10 1 82948 1.20557E-5 41474 0 4.05131E-6
4-146002910-C-G c.116-8G>C splice_region ANAPC10 1 82960 1.2054E-5 41480 0 4.04809E-6
4-146017139-G-A p.Pro38Leu missense+splice_region ANAPC10 3 83286 3.60205E-5 41643 0 1.20211E-5
4-146017152-A-T p.Ser34Thr missense ANAPC10 1 83342 1.19988E-5 41671 0 NA
4-146017168-T-C p.Gln28Gln synonymous ANAPC10 1 83376 1.19939E-5 41688 0 NA
4-146017174-C-A p.Gly26Gly synonymous ANAPC10 4 83380 4.79731E-5 41690 0 5.60942E-5
4-146017182-C-T p.Glu24Lys missense ANAPC10 3 83388 3.59764E-5 41694 0 NA
4-146017184-C-T p.Arg23Gln missense ANAPC10 5 83394 5.99564E-5 41697 0 6.37105E-5
4-146017185-G-A p.Arg23Trp missense ANAPC10 2 83396 2.3982E-5 41698 0 6.25E-4
4-146017192-TC-T p.Gly20fs frameshift ANAPC10 1 83396 1.1991E-5 41698 0 NA
4-146017206-A-G p.Leu16Leu synonymous ANAPC10 1 83394 1.19913E-5 41697 0 NA
4-146017215-G-T p.Pro13Thr missense ANAPC10 2 83392 2.39831E-5 41696 0 NA
4-146017219-A-G p.Ala11Ala synonymous ANAPC10 2 83396 2.3982E-5 41698 0 NA
4-146017229-G-A p.Pro8Leu missense ANAPC10 1 83392 1.19916E-5 41696 0 3.18431E-5
4-146017229-G-T p.Pro8His missense ANAPC10 1 83392 1.19916E-5 41696 0 NA
4-146018397-A-G c.-13T>C splice_region ANAPC10 2 21856 9.15081E-5 10928 0 3.1839E-5
4-146018641-G-T c.-13+6C>A splice_region ANAPC10 1 32316 3.09444E-5 16158 0 NA
4-146018644-T-C c.-13+3A>G splice_region ANAPC10 6 32316 1.85667E-4 16158 0 6.65779E-4
4-146018675-G-A c.-41C>T 5_prime_UTR_premature_start_codon_gain ANAPC10 2 32318 6.1885E-5 16159 0 NA
4-146018675-G-C c.-41C>G 5_prime_UTR_premature_start_codon_gain ANAPC10 1 32318 3.09425E-5 16159 0 NA
4-146018696-C-G c.-62G>C 5_prime_UTR_premature_start_codon_gain ANAPC10 1 32312 3.09483E-5 16156 0 NA
4-146018712-T-C c.-78A>G splice_region ANAPC10 2 32300 6.19195E-5 16150 0 4.64339E-4
4-146018713-T-C c.-79A>G splice_region ANAPC10 1 32298 3.09617E-5 16149 0 1.56235E-5
4-146018848-T-C c.-21A>G 5_prime_UTR_premature_start_codon_gain ANAPC10 1 24544 4.07432E-5 12272 0 NA
4-146018899-G-C c.-72C>G 5_prime_UTR_premature_start_codon_gain ANAPC10 2 18738 1.06735E-4 9369 0 NA
4-146019031-G-T c.-154+8C>A splice_region ANAPC10 2 9204 2.17297E-4 4602 0 NA
4-146019033-A-G c.-154+6T>C splice_region ANAPC10 1 9204 1.08648E-4 4602 0 NA
4-146019277-C-A c.-13+6G>T splice_region ANAPC10 1 2952 3.38753E-4 1476 0 3.18431E-5
4-146019311-G-A c.-41C>T 5_prime_UTR_premature_start_codon_gain ANAPC10 1 2950 3.38983E-4 1475 0 NA
4-146019494-C-T c.-119G>A 5_prime_UTR_premature_start_codon_gain ANAPC10 1 2960 3.37838E-4 1480 0 NA