Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-247004111-C-T p.Leu2275Leu synonymous AHCTF1 1 80536 1.24168E-5 40268 0 0.00191327
1-247004124-C-T p.Arg2271His missense AHCTF1 1 80598 1.24073E-5 40299 0 8.28706E-6
1-247004125-G-A p.Arg2271Cys missense AHCTF1 8 80598 9.9258E-5 40299 0 8.28459E-5
1-247004160-C-G p.Arg2259Thr missense AHCTF1 1 81118 1.23277E-5 40559 0 NA
1-247004175-C-A p.Gly2254Val missense AHCTF1 2 81208 2.46281E-5 40604 0 NA
1-247004184-G-A p.Thr2251Ile missense AHCTF1 1 81360 1.22911E-5 40680 0 NA
1-247004186-C-T p.Val2250Val synonymous AHCTF1 96 81378 0.00117968 40689 1 8.92061E-4
1-247004195-A-G p.Thr2247Thr synonymous AHCTF1 2 81628 2.45014E-5 40814 0 NA
1-247004197-T-TTTTTCTTGG p.Lys2246_Thr2247insProArgLys conservative_inframe_insertion AHCTF1 1 81684 1.22423E-5 40842 0 3.98759E-6
1-247004201-T-C p.Arg2245Arg synonymous AHCTF1 19 81768 2.32365E-4 40884 0 1.91403E-4
1-247004205-G-A p.Pro2244Leu missense AHCTF1 2 81862 2.44314E-5 40931 0 2.47692E-5
1-247004222-G-A p.Asp2238Asp synonymous AHCTF1 2 82120 2.43546E-5 41060 0 1.20082E-5
1-247004226-G-T p.Ala2237Asp missense AHCTF1 1 82216 1.21631E-5 41108 0 4.00138E-6
1-247004231-G-A p.Ser2235Ser synonymous AHCTF1 2 82250 2.43161E-5 41125 0 NA
1-247004253-C-T p.Arg2228Gln missense AHCTF1 18 82476 2.18245E-4 41238 0 0.005
1-247004254-G-C p.Arg2228Gly missense AHCTF1 1 82502 1.21209E-5 41251 0 8.30013E-6
1-247004263-T-G p.Ile2225Leu missense AHCTF1 1 82552 1.21136E-5 41276 0 4.03734E-6
1-247004271-G-C p.Pro2222Arg missense AHCTF1 1 82576 1.21101E-5 41288 0 1.62044E-5
1-247004277-C-G p.Trp2220Ser missense AHCTF1 1 82558 1.21127E-5 41279 0 NA
1-247004280-G-A p.Ala2219Val missense AHCTF1 1 82578 1.21098E-5 41289 0 NA
1-247004286-T-C p.Glu2217Gly missense AHCTF1 3 82512 3.63583E-5 41256 0 1.69321E-5
1-247004290-T-C p.Lys2216Glu missense AHCTF1 3 82456 3.6383E-5 41228 0 1.29871E-5
1-247004295-G-T p.Thr2214Lys missense AHCTF1 41 82374 4.9773E-4 41187 0 0.00154433
1-247004300-T-TTTGCTTGCTTGTTTTGTTTTTGACGTC c.6636-1_6636insGACGTCAAAAACAAAACAAGCAAGCAA splice_acceptor AHCTF1 1 82268 1.21554E-5 41134 0 NA
1-247004302-T-TG c.6636-3_6636-2insC splice_region AHCTF1 2 82234 2.43208E-5 41117 0 3.29012E-5
1-247004303-G-GA c.6636-4_6636-3insT splice_region AHCTF1 1408 82156 0.0171381 41078 67 0.0380363
1-247004303-G-GAA c.6636-4_6636-3insTT splice_region AHCTF1 3 82256 3.64715E-5 41128 0 6.90942E-5
1-247004303-G-T c.6636-3C>A splice_region AHCTF1 1 82256 1.21572E-5 41128 0 NA
1-247004303-GAAA-G c.6636-6_6636-4delTTT splice_region AHCTF1 1 82256 1.21572E-5 41128 0 NA
1-247005993-T-C c.6635+3A>G splice_region AHCTF1 1 80976 1.23493E-5 40488 0 4.01368E-6
1-247005994-ACTTG-A p.Ser2211_Lys2212delinsArg splice_donor AHCTF1 3 81022 3.7027E-5 40511 0 8.02794E-6
1-247005999-C-T p.Ser2211Asn missense AHCTF1 1 81256 1.23068E-5 40628 0 8.33153E-6
1-247006007-TTTTG-T p.Thr2207fs frameshift AHCTF1 1 81646 1.2248E-5 40823 0 NA
1-247006011-G-GT p.Thr2207fs frameshift AHCTF1 1 81762 1.22306E-5 40881 0 NA
1-247006019-C-T p.Thr2204Thr synonymous AHCTF1 130 81870 0.00158788 40935 0 0.0018905
1-247006020-G-A p.Thr2204Met missense AHCTF1 7 81910 8.54597E-5 40955 0 3.18654E-5
1-247006026-A-T p.Ile2202Asn missense AHCTF1 2 82154 2.43445E-5 41077 0 3.99818E-6
1-247006029-C-A p.Arg2201Leu missense AHCTF1 10 82194 1.21663E-4 41097 0 5.19713E-5
1-247006029-C-T p.Arg2201Gln missense AHCTF1 2 82198 2.43315E-5 41099 0 4.16237E-5
1-247006030-G-A p.Arg2201* stop_gained AHCTF1 1 82218 1.21628E-5 41109 0 NA
1-247006034-C-T p.Ala2199Ala synonymous AHCTF1 2 82302 2.43007E-5 41151 0 3.32917E-5
1-247006035-G-A p.Ala2199Val missense AHCTF1 54 82314 6.56024E-4 41157 0 0.0015121
1-247006040-T-A p.Pro2197Pro synonymous AHCTF1 1 82452 1.21283E-5 41226 0 8.32154E-6
1-247006041-G-C p.Pro2197Arg missense AHCTF1 1 82460 1.21271E-5 41230 0 NA
1-247006044-T-C p.Lys2196Arg missense AHCTF1 1 82498 1.21215E-5 41249 0 NA
1-247006047-C-T p.Gly2195Glu missense AHCTF1 1 82508 1.212E-5 41254 0 4.99176E-5
1-247006049-CAG-C p.Leu2194fs frameshift AHCTF1 1 82520 1.21183E-5 41260 0 3.99068E-6
1-247006051-G-C p.Leu2194Val missense AHCTF1 17889 82010 0.218132 41005 2165 0.249688
1-247006051-G-A p.Leu2194Leu synonymous AHCTF1 2 82528 2.42342E-5 41264 0 3.19163E-5
1-247006072-C-T p.Asp2187Asn missense AHCTF1 2 82632 2.42037E-5 41316 0 7.97626E-6
1-247006084-G-T c.6553-6C>A splice_region AHCTF1 1 82558 1.21127E-5 41279 0 NA
1-247007113-T-C p.Lys2179Arg missense AHCTF1 264 77664 0.00339926 38832 5 0.0126761
1-247007122-T-C p.Asn2176Ser missense AHCTF1 1 78220 1.27845E-5 39110 0 5.19378E-6
1-247007124-G-C p.Ser2175Ser synonymous AHCTF1 1 78346 1.27639E-5 39173 0 NA
1-247007142-G-T p.Ser2169Arg missense AHCTF1 1 79126 1.26381E-5 39563 0 4.89558E-6
1-247007151-A-C p.Ala2166Ala synonymous AHCTF1 1 79456 1.25856E-5 39728 0 9.21846E-6
1-247007165-T-C p.Ile2162Val missense AHCTF1 5 79420 6.29564E-5 39710 0 6.37877E-5
1-247007165-T-A p.Ile2162Phe missense AHCTF1 1 79420 1.25913E-5 39710 0 7.16089E-5
1-247007178-A-T p.Ser2157Ser synonymous AHCTF1 321 79498 0.00403784 39749 1 0.00351572
1-247007187-C-T p.Ser2154Ser synonymous AHCTF1 6 79302 7.56601E-5 39651 0 3.19918E-5
1-247007195-A-G p.Leu2152Leu synonymous AHCTF1 1 79332 1.26053E-5 39666 0 NA
1-247007202-C-G p.Leu2149Leu synonymous AHCTF1 1 79210 1.26247E-5 39605 0 NA
1-247007217-C-T p.Glu2144Glu synonymous AHCTF1 1 78010 1.28189E-5 39005 0 8.61831E-6
1-247007221-A-AT p.Ile2143fs frameshift AHCTF1 5 77916 6.41717E-5 38958 0 3.19387E-5
1-247007222-T-C p.Ile2143Val missense AHCTF1 1 77940 1.28304E-5 38970 0 5.48607E-6
1-247007223-T-C p.Lys2142Lys synonymous AHCTF1 1 77934 1.28314E-5 38967 0 3.1904E-5
1-247007232-T-A c.6419-2A>T splice_acceptor AHCTF1 488 77370 0.00630735 38685 4 0.00694863
1-247007233-A-G c.6419-3T>C splice_region AHCTF1 1 77406 1.29189E-5 38703 0 NA
1-247012919-T-C p.Lys2139Arg missense+splice_region AHCTF1 8 81610 9.80272E-5 40805 0 2.62583E-4
1-247012921-T-C p.Ala2138Ala synonymous AHCTF1 1 81622 1.22516E-5 40811 0 NA
1-247012935-C-T p.Val2134Ile missense AHCTF1 1 81716 1.22375E-5 40858 0 1.65656E-5
1-247012942-C-T p.Ala2131Ala synonymous AHCTF1 1 81746 1.2233E-5 40873 0 3.18431E-5
1-247012943-G-A p.Ala2131Val missense AHCTF1 364 81716 0.00445445 40858 13 0.018125
1-247012943-G-C p.Ala2131Gly missense AHCTF1 1 81740 1.22339E-5 40870 0 8.25777E-6
1-247012956-A-G p.Leu2127Leu synonymous AHCTF1 1 81814 1.22228E-5 40907 0 NA
1-247012960-C-T p.Glu2125Glu synonymous AHCTF1 2 81814 2.44457E-5 40907 0 8.24389E-6
1-247012960-C-A p.Glu2125Asp missense AHCTF1 2 81814 2.44457E-5 40907 0 3.98991E-6
1-247012964-T-C p.Asn2124Ser missense AHCTF1 1 81826 1.22211E-5 40913 0 3.18431E-5
1-247012965-T-C p.Asn2124Asp missense AHCTF1 2 81834 2.44397E-5 40917 0 1.64823E-5
1-247012970-G-A p.Pro2122Leu missense AHCTF1 1 81848 1.22178E-5 40924 0 NA
1-247012971-G-A p.Pro2122Ser missense AHCTF1 2 81848 2.44355E-5 40924 0 3.18431E-5
1-247012979-A-G p.Leu2119Pro missense AHCTF1 1 81862 1.22157E-5 40931 0 8.23913E-6
1-247012985-G-A p.Pro2117Leu missense AHCTF1 3 81860 3.66479E-5 40930 0 3.18471E-5
1-247012997-G-A p.Ala2113Val missense AHCTF1 1 81880 1.2213E-5 40940 0 3.98184E-6
1-247013003-C-T p.Ser2111Asn missense AHCTF1 1 81878 1.22133E-5 40939 0 NA
1-247013009-C-T p.Arg2109Gln missense AHCTF1 1 81880 1.2213E-5 40940 0 9.55049E-5
1-247013009-C-G p.Arg2109Pro missense AHCTF1 1 81882 1.22127E-5 40941 0 NA
1-247013010-G-A p.Arg2109Trp missense AHCTF1 2 81880 2.4426E-5 40940 0 9.54988E-5
1-247013012-G-C p.Thr2108Ser missense AHCTF1 1 81884 1.22124E-5 40942 0 NA
1-247013017-G-A p.Ser2106Ser synonymous AHCTF1 1 81878 1.22133E-5 40939 0 3.98156E-6
1-247013024-C-T p.Arg2104His missense AHCTF1 4 81880 4.8852E-5 40940 0 2.22962E-4
1-247013025-G-A p.Arg2104Cys missense AHCTF1 3 81878 3.66399E-5 40939 0 2.47113E-5
1-247013025-G-C p.Arg2104Gly missense AHCTF1 1 81878 1.22133E-5 40939 0 3.18471E-5
1-247013037-T-A p.Thr2100Ser missense AHCTF1 1 81862 1.22157E-5 40931 0 NA
1-247013048-G-A p.Thr2096Ile missense AHCTF1 8 81866 9.77207E-5 40933 0 0.00120192
1-247013052-C-T p.Ala2095Thr missense AHCTF1 5 81862 6.10784E-5 40931 0 4.77798E-5
1-247013057-A-C p.Leu2093Trp missense AHCTF1 2 81862 2.44314E-5 40931 0 2.38901E-5
1-247013087-T-C p.His2083Arg missense AHCTF1 1 81860 1.2216E-5 40930 0 3.98187E-6
1-247013101-T-C p.Thr2078Thr synonymous AHCTF1 1 81844 1.22184E-5 40922 0 NA
1-247013106-G-A p.Arg2077Cys missense AHCTF1 19 81836 2.32172E-4 40918 0 4.11909E-5
1-247013127-A-G p.Leu2070Leu synonymous AHCTF1 1 81842 1.22187E-5 40921 0 3.98362E-6
1-247013128-T-C p.Ser2069Ser synonymous AHCTF1 6 81844 7.33102E-5 40922 0 6.3678E-5
1-247013131-A-T p.Arg2068Arg synonymous AHCTF1 1 81840 1.2219E-5 40920 0 NA
1-247013133-G-A p.Arg2068Cys missense AHCTF1 2 81840 2.44379E-5 40920 0 2.39021E-5
1-247013135-T-C p.Lys2067Arg missense AHCTF1 1 81836 1.22196E-5 40918 0 NA
1-247013147-C-CT p.Ser2063fs frameshift AHCTF1 1 81824 1.22214E-5 40912 0 NA
1-247013152-A-C p.Thr2061Thr synonymous AHCTF1 2 81810 2.44469E-5 40905 0 3.58583E-5
1-247013155-C-T p.Lys2060Lys synonymous AHCTF1 2 81808 2.44475E-5 40904 0 0.00120482
1-247013158-T-C p.Lys2059Lys synonymous AHCTF1 7 81808 8.55662E-5 40904 0 3.29538E-5
1-247013162-G-A p.Thr2058Ile missense AHCTF1 2 81796 2.44511E-5 40898 0 1.64772E-5
1-247013188-C-T p.Met2049Ile missense AHCTF1 2 81712 2.44762E-5 40856 0 3.1839E-5
1-247013191-C-A p.Ser2048Ser synonymous AHCTF1 1 81694 1.22408E-5 40847 0 6.37024E-5
1-247013191-C-T p.Ser2048Ser synonymous AHCTF1 3 81694 3.67224E-5 40847 0 0.00125
1-247013193-A-G p.Ser2048Pro missense AHCTF1 1 81690 1.22414E-5 40845 0 1.19614E-5
1-247013197-TTCC-T p.Glu2046del disruptive_inframe_deletion AHCTF1 4 81694 4.89632E-5 40847 0 6.77885E-5
1-247013200-C-A p.Glu2045Asp missense AHCTF1 1 81682 1.22426E-5 40841 0 NA
1-247013202-C-T p.Glu2045Lys missense AHCTF1 5 81674 6.1219E-5 40837 0 0.00121359
1-247013203-G-A p.Asn2044Asn synonymous AHCTF1 1323 81504 0.0162323 40752 67 0.0347408
1-247013224-T-C p.Gly2037Gly synonymous AHCTF1 2 81470 2.45489E-5 40735 0 1.65494E-5
1-247013225-C-T p.Gly2037Glu missense AHCTF1 1 81478 1.22733E-5 40739 0 NA
1-247013230-A-G p.Ala2035Ala synonymous AHCTF1 1 81534 1.22648E-5 40767 0 NA
1-247013239-T-C p.Gly2032Gly synonymous AHCTF1 3 81622 3.67548E-5 40811 0 NA
1-247013243-A-G p.Val2031Ala missense AHCTF1 1 81638 1.22492E-5 40819 0 1.65544E-5
1-247013245-A-G p.Asp2030Asp synonymous AHCTF1 1 81662 1.22456E-5 40831 0 3.18431E-5
1-247013247-C-G p.Asp2030His missense AHCTF1 1 81676 1.22435E-5 40838 0 3.98953E-6
1-247013269-G-C p.Thr2022Thr synonymous AHCTF1 2 81736 2.4469E-5 40868 0 8.27198E-6
1-247013277-T-C p.Arg2020Gly missense AHCTF1 1 81748 1.22327E-5 40874 0 NA
1-247013280-T-C p.Thr2019Ala missense AHCTF1 2 81756 2.4463E-5 40878 0 3.1839E-5
1-247013287-CCTT-C p.Arg2016del disruptive_inframe_deletion AHCTF1 2 81756 2.4463E-5 40878 0 8.26952E-6
1-247013288-C-T p.Arg2016Lys missense AHCTF1 1 81760 1.22309E-5 40880 0 2.79E-5
1-247013291-C-G p.Arg2015Thr missense AHCTF1 2 81766 2.446E-5 40883 0 1.91534E-4
1-247013315-T-C p.Lys2007Arg missense AHCTF1 2 81738 2.44684E-5 40869 0 NA
1-247013321-C-T p.Ser2005Asn missense AHCTF1 1 81710 1.22384E-5 40855 0 NA
1-247013322-T-G p.Ser2005Arg missense AHCTF1 9 81706 1.10151E-4 40853 0 NA
1-247013329-T-C p.Glu2002Glu synonymous AHCTF1 2 81692 2.44822E-5 40846 0 NA
1-247013340-C-G p.Ala1999Pro missense AHCTF1 1 81656 1.22465E-5 40828 0 NA
1-247013377-T-G p.Pro1986Pro synonymous AHCTF1 1 81512 1.22681E-5 40756 0 3.18512E-5
1-247013383-A-G p.Gly1984Gly synonymous AHCTF1 1 81492 1.22711E-5 40746 0 NA
1-247013388-G-A p.Arg1983Cys missense AHCTF1 1 81488 1.22717E-5 40744 0 6.25E-4
1-247013394-T-C p.Arg1981Gly missense AHCTF1 2 81490 2.45429E-5 40745 0 NA
1-247013408-A-G p.Met1976Thr missense AHCTF1 8 81512 9.81451E-5 40756 0 3.1841E-5
1-247013412-C-A p.Asp1975Tyr missense AHCTF1 1 81530 1.22654E-5 40765 0 1.59399E-5
1-247013412-C-T p.Asp1975Asn missense AHCTF1 2 81530 2.45308E-5 40765 0 NA
1-247013443-C-T p.Glu1964Glu synonymous AHCTF1 1 81606 1.2254E-5 40803 0 3.98464E-6
1-247013445-C-T p.Glu1964Lys missense AHCTF1 56 81606 6.86224E-4 40803 0 6.25598E-4
1-247013449-G-A p.Asn1962Asn synonymous AHCTF1 1 81612 1.22531E-5 40806 0 NA
1-247013450-T-C p.Asn1962Ser missense AHCTF1 6 81610 7.35204E-5 40805 0 3.18451E-5
1-247013452-G-A p.Ser1961Ser synonymous AHCTF1 1 81618 1.22522E-5 40809 0 NA
1-247013454-A-G p.Ser1961Pro missense AHCTF1 1 81618 1.22522E-5 40809 0 NA
1-247013456-TCTTCTCTCACATCTGATGGACTAA-T p.Val1952_Glu1959del disruptive_inframe_deletion AHCTF1 3 81622 3.67548E-5 40811 0 2.47308E-5
1-247013468-T-C p.Asp1956Gly missense AHCTF1 2 81648 2.44954E-5 40824 0 NA
1-247013478-T-A p.Ser1953Cys missense AHCTF1 2 81640 2.44978E-5 40820 0 NA
1-247013488-C-T p.Gly1949Gly synonymous AHCTF1 1 81624 1.22513E-5 40812 0 NA
1-247013492-C-T p.Arg1948Lys missense AHCTF1 199 81612 0.00243837 40806 3 0.00248471
1-247013501-C-G p.Arg1945Thr missense AHCTF1 2 81624 2.45026E-5 40812 0 NA
1-247013502-T-C p.Arg1945Gly missense AHCTF1 1 81620 1.22519E-5 40810 0 4.12296E-5
1-247013507-T-C p.His1943Arg missense AHCTF1 1 81602 1.22546E-5 40801 0 3.18471E-5
1-247013516-C-T p.Arg1940His missense AHCTF1 2 81564 2.45206E-5 40782 0 6.59772E-5
1-247013533-G-A p.Ser1934Ser synonymous AHCTF1 8 81580 9.80633E-5 40790 0 0.00240674
1-247013543-T-C p.Asp1931Gly missense AHCTF1 463 81562 0.00567666 40781 7 0.011875
1-247013548-C-T p.Lys1929Lys synonymous AHCTF1 1 81594 1.22558E-5 40797 0 3.18471E-5
1-247013549-T-G p.Lys1929Thr missense AHCTF1 3 81604 3.67629E-5 40802 0 3.50341E-4
1-247013562-T-G p.Asn1925His missense AHCTF1 1 81616 1.22525E-5 40808 0 1.23836E-4
1-247013576-A-G p.Leu1920Ser missense AHCTF1 69 81636 8.45215E-4 40818 0 0.00607533
1-247013580-T-G p.Asn1919His missense AHCTF1 1 81634 1.22498E-5 40817 0 8.26446E-6
1-247013595-T-C p.Lys1914Glu missense AHCTF1 38 81640 4.65458E-4 40820 0 6.36862E-4
1-247013615-C-T p.Ser1907Asn missense AHCTF1 2 81610 2.45068E-5 40805 0 3.18431E-5
1-247013623-C-T p.Thr1904Thr synonymous AHCTF1 2 81584 2.45146E-5 40792 0 0.00121951
1-247013634-T-C p.Lys1901Glu missense AHCTF1 1 81556 1.22615E-5 40778 0 4.00644E-6
1-247013636-A-G p.Leu1900Pro missense AHCTF1 1 81548 1.22627E-5 40774 0 4.00628E-6
1-247013646-TAATTTC-T p.Glu1895_Ile1896del conservative_inframe_deletion AHCTF1 2 81510 2.45369E-5 40755 0 NA
1-247013647-A-C p.Ile1896Met missense AHCTF1 1 81498 1.22702E-5 40749 0 NA
1-247013650-T-G p.Glu1895Asp missense AHCTF1 1 81488 1.22717E-5 40744 0 NA
1-247013657-CTTTCCTGAT-C p.Asn1890_Glu1892del disruptive_inframe_deletion AHCTF1 24 81426 2.94746E-4 40713 0 3.18492E-4
1-247013660-T-G p.Glu1892Ala missense AHCTF1 1 81400 1.2285E-5 40700 0 NA
1-247013661-C-T p.Glu1892Lys missense AHCTF1 2 81404 2.45688E-5 40702 0 8.37563E-6
1-247013667-T-C p.Asn1890Asp missense AHCTF1 1 81340 1.22941E-5 40670 0 3.18593E-5
1-247013685-T-C p.Ile1884Val missense AHCTF1 1 81208 1.23141E-5 40604 0 NA
1-247013704-T-A p.Thr1877Thr synonymous AHCTF1 51 80912 6.30314E-4 40456 0 0.001875
1-247013705-G-A p.Thr1877Ile missense AHCTF1 1 80926 1.2357E-5 40463 0 NA
1-247013717-A-G p.Val1873Ala missense AHCTF1 5 80620 6.20194E-5 40310 0 1.78307E-5
1-247013719-C-A p.Lys1872Asn missense AHCTF1 2 80564 2.4825E-5 40282 0 NA
1-247013733-T-C p.Lys1868Glu missense AHCTF1 1236 79600 0.0155276 39800 51 0.0347895
1-247013735-G-C p.Thr1867Ser missense AHCTF1 1 79738 1.25411E-5 39869 0 0.00123305
1-247013753-G-A p.Pro1861Leu missense AHCTF1 4 77852 5.13795E-5 38926 0 3.82726E-4
1-247013754-G-C p.Pro1861Ala missense AHCTF1 1 77680 1.28733E-5 38840 0 4.83957E-6
1-247013768-G-A p.Ser1856Phe missense AHCTF1 2 74884 2.6708E-5 37442 0 NA
1-247013771-G-A p.Ser1855Leu missense AHCTF1 1 73970 1.3519E-5 36985 0 1.37552E-5
1-247013784-T-C p.Lys1851Glu missense AHCTF1 1 70306 1.42235E-5 35153 0 1.39509E-5
1-247013796-C-A p.Gly1847Cys missense AHCTF1 1 66276 1.50884E-5 33138 0 6.41478E-5
1-247013796-C-G p.Gly1847Arg missense AHCTF1 2 66274 3.01777E-5 33137 0 8.51813E-5
1-247013815-T-C p.Gln1840Gln synonymous AHCTF1 1 61526 1.62533E-5 30763 0 NA
1-247013823-C-G p.Val1838Leu missense AHCTF1 1 59220 1.68862E-5 29610 0 2.78071E-5
1-247013850-G-C p.Gln1829Glu missense AHCTF1 1 54248 1.84339E-5 27124 0 2.56898E-5
1-247013859-C-T p.Glu1826Lys missense AHCTF1 1 54068 1.84952E-5 27034 0 4.56884E-6
1-247013882-G-A p.Pro1818Leu missense AHCTF1 1 54758 1.82622E-5 27379 0 4.2882E-6
1-247013885-G-C p.Thr1817Arg missense AHCTF1 1 54782 1.82542E-5 27391 0 4.27716E-6
1-247013885-G-T p.Thr1817Lys missense AHCTF1 1 54774 1.82568E-5 27387 0 1.10023E-5
1-247013892-A-C p.Ser1815Ala missense AHCTF1 1 55820 1.79147E-5 27910 0 NA
1-247013916-G-C p.Gln1807Glu missense AHCTF1 6 64634 9.28304E-5 32317 0 6.69557E-4
1-247013938-A-G p.Tyr1799Tyr synonymous AHCTF1 1 71782 1.39311E-5 35891 0 NA
1-247013941-G-C p.Ile1798Met missense AHCTF1 2 72602 2.75475E-5 36301 0 6.25E-4
1-247013980-A-C p.Thr1785Thr synonymous AHCTF1 1 79592 1.25641E-5 39796 0 3.98276E-6
1-247014026-TCTG-T p.Ala1769del disruptive_inframe_deletion AHCTF1 3 79166 3.78951E-5 39583 0 6.37064E-5
1-247014036-C-G p.Ala1767Pro missense AHCTF1 1 78658 1.27133E-5 39329 0 3.18451E-5
1-247014047-GCTGATTTGACAT-G p.Asn1759_Ala1763delinsThr disruptive_inframe_deletion AHCTF1 1 78026 1.28162E-5 39013 0 1.66094E-5
1-247014064-G-A p.Asn1757Asn synonymous AHCTF1 114 76234 0.0014954 38117 0 0.00445379
1-247014075-G-A p.Arg1754Cys missense AHCTF1 1 75600 1.32275E-5 37800 0 8.33556E-6
1-247014076-T-C p.Gln1753Gln synonymous AHCTF1 4 75460 5.30082E-5 37730 0 9.56938E-5
1-247014083-C-T p.Arg1751Lys missense AHCTF1 1 75998 1.31582E-5 37999 0 NA
1-247014085-C-T p.Thr1750Thr synonymous AHCTF1 1 76098 1.31409E-5 38049 0 5.10237E-4
1-247014086-G-A p.Thr1750Met missense AHCTF1 1 76412 1.30869E-5 38206 0 1.27689E-4
1-247014086-G-C p.Thr1750Arg missense AHCTF1 2 76428 2.61684E-5 38214 0 4.99742E-5
1-247014091-A-C p.Thr1748Thr synonymous AHCTF1 1 76762 1.30273E-5 38381 0 3.99591E-6
1-247014109-G-A p.Asp1742Asp synonymous AHCTF1 125 78460 0.00159317 39230 1 0.00669344
1-247014127-A-G p.Asn1736Asn synonymous AHCTF1 1 80314 1.24511E-5 40157 0 NA
1-247014135-T-G p.Thr1734Pro missense AHCTF1 1 80626 1.24029E-5 40313 0 NA
1-247014138-T-C p.Met1733Val missense AHCTF1 1 80738 1.23857E-5 40369 0 6.25E-4
1-247014142-G-A p.Ser1731Ser synonymous AHCTF1 1 80810 1.23747E-5 40405 0 NA
1-247014199-G-A p.Asn1712Asn synonymous AHCTF1 2 81206 2.46287E-5 40603 0 1.64802E-5
1-247014211-T-C p.Leu1708Leu synonymous AHCTF1 1 81290 1.23016E-5 40645 0 NA
1-247014216-G-T p.Pro1707Thr missense AHCTF1 1 81318 1.22974E-5 40659 0 1.64959E-5
1-247014220-T-C p.Thr1705Thr synonymous AHCTF1 1 81370 1.22895E-5 40685 0 8.24906E-6
1-247014221-G-C p.Thr1705Arg missense AHCTF1 2 81378 2.45767E-5 40689 0 1.99354E-5
1-247014230-A-C p.Ile1702Ser missense AHCTF1 1 81420 1.2282E-5 40710 0 8.25055E-6
1-247014231-T-C p.Ile1702Val missense AHCTF1 1 81420 1.2282E-5 40710 0 6.25E-4
1-247014233-G-A p.Ser1701Phe missense AHCTF1 1 81430 1.22805E-5 40715 0 2.47549E-5
1-247014236-T-A p.Gln1700Leu missense AHCTF1 1 81456 1.22766E-5 40728 0 NA
1-247014241-C-T p.Met1698Ile missense AHCTF1 11 81472 1.35016E-4 40736 0 9.55536E-5
1-247014243-T-C p.Met1698Val missense AHCTF1 3 81488 3.68152E-5 40744 0 1.65046E-5
1-247014309-C-T p.Ala1676Thr missense AHCTF1 1 81570 1.22594E-5 40785 0 3.30077E-5
1-247014318-T-G p.Ile1673Leu missense AHCTF1 1 81562 1.22606E-5 40781 0 3.98556E-6
1-247014319-A-T p.Pro1672Pro synonymous AHCTF1 3 81568 3.67791E-5 40784 0 7.97118E-6
1-247014327-G-A p.Pro1670Ser missense AHCTF1 1 81584 1.22573E-5 40792 0 NA
1-247014328-C-T p.Val1669Val synonymous AHCTF1 2 81578 2.45164E-5 40789 1 NA
1-247014329-A-C p.Val1669Gly missense AHCTF1 1 81582 1.22576E-5 40791 0 NA
1-247014341-G-T p.Thr1665Asn missense AHCTF1 2 81582 2.45152E-5 40791 0 NA
1-247014342-T-G p.Thr1665Pro missense AHCTF1 1 81592 1.22561E-5 40796 0 NA
1-247014362-T-C p.Gln1658Arg missense AHCTF1 1 81634 1.22498E-5 40817 0 1.64967E-5
1-247014372-T-C p.Thr1655Ala missense AHCTF1 1 81642 1.22486E-5 40821 0 NA
1-247014376-G-A p.Ala1653Ala synonymous AHCTF1 2 81642 2.44972E-5 40821 0 0.00121507
1-247014382-T-C p.Pro1651Pro synonymous AHCTF1 2 81652 2.44942E-5 40826 0 NA
1-247014384-G-A p.Pro1651Ser missense AHCTF1 2 81650 2.44948E-5 40825 0 NA
1-247014403-A-G p.His1644His synonymous AHCTF1 2 81686 2.4484E-5 40843 0 3.585E-5
1-247014404-T-C p.His1644Arg missense AHCTF1 1 81684 1.22423E-5 40842 0 NA
1-247014407-T-C p.Asn1643Ser missense AHCTF1 8 81686 9.7936E-5 40843 0 9.55779E-5
1-247014409-A-G p.Asp1642Asp synonymous AHCTF1 1 81682 1.22426E-5 40841 0 9.55718E-5
1-247014423-T-C p.Ser1638Gly missense AHCTF1 32 81656 3.91888E-4 40828 0 2.23063E-4
1-247014432-G-A p.Leu1635Phe missense AHCTF1 1 81620 1.22519E-5 40810 0 8.24239E-6
1-247014437-T-C p.Glu1633Gly missense AHCTF1 6 81612 7.35186E-5 40806 0 3.82068E-4
1-247014444-T-C p.Thr1631Ala missense AHCTF1 1 81560 1.22609E-5 40780 0 2.47292E-5
1-247014445-T-G p.Ala1630Ala synonymous AHCTF1 1 81554 1.22618E-5 40777 0 NA
1-247014449-G-A p.Thr1629Ile missense AHCTF1 1 81536 1.22645E-5 40768 0 6.36821E-5
1-247014464-G-A p.Pro1624Leu missense AHCTF1 1 81416 1.22826E-5 40708 0 8.24212E-6
1-247014471-C-T p.Val1622Met missense AHCTF1 2 81434 2.45598E-5 40717 0 1.64837E-5
1-247014477-A-C p.Ser1620Ala missense AHCTF1 1 81492 1.22711E-5 40746 0 3.98346E-6
1-247014494-G-A p.Pro1614Leu missense AHCTF1 1 81588 1.22567E-5 40794 0 3.18593E-5
1-247014503-TCTC-T p.Gly1610del disruptive_inframe_deletion AHCTF1 1 81658 1.22462E-5 40829 0 1.64804E-5
1-247014509-T-C p.Glu1609Gly missense AHCTF1 2 81692 2.44822E-5 40846 0 3.98333E-6
1-247014520-C-T p.Leu1605Leu synonymous AHCTF1 2 81762 2.44612E-5 40881 0 8.23954E-6
1-247014522-A-G p.Leu1605Leu synonymous AHCTF1 1 81772 1.22291E-5 40886 0 NA
1-247014541-T-C p.Gln1598Gln synonymous AHCTF1 3 81862 3.6647E-5 40931 0 6.3678E-5
1-247014552-A-G p.Phe1595Leu missense AHCTF1 2 81906 2.44182E-5 40953 0 1.64761E-5
1-247014577-G-C p.Asp1586Glu missense AHCTF1 1 82098 1.21806E-5 41049 0 1.64761E-5
1-247014580-A-G p.Cys1585Cys synonymous AHCTF1 1 82114 1.21782E-5 41057 0 0.001875
1-247014585-C-G p.Glu1584Gln missense AHCTF1 1 82174 1.21693E-5 41087 0 3.1839E-5
1-247014587-G-C p.Ala1583Gly missense AHCTF1 1 82198 1.21657E-5 41099 0 6.36862E-5
1-247014597-T-C p.Lys1580Glu missense AHCTF1 1 82282 1.21533E-5 41141 0 3.1839E-5
1-247014604-A-T p.Ala1577Ala synonymous AHCTF1 15 82348 1.82154E-4 41174 0 4.45746E-4
1-247014624-G-C p.Gln1571Glu missense AHCTF1 1 82596 1.21071E-5 41298 0 3.18552E-5
1-247014630-T-C p.Ile1569Val missense AHCTF1 2 82680 2.41896E-5 41340 0 6.3674E-5
1-247014632-G-C p.Thr1568Ser missense AHCTF1 7 82698 8.46453E-5 41349 0 5.05561E-4
1-247014647-T-C p.Gln1563Arg missense AHCTF1 26 82816 3.13949E-4 41408 0 2.86533E-4
1-247014669-G-A p.Pro1556Ser missense AHCTF1 1 82908 1.20616E-5 41454 0 NA
1-247014678-C-G p.Glu1553Gln missense AHCTF1 3 82906 3.61856E-5 41453 0 9.55475E-5
1-247014679-A-G p.Asn1552Asn synonymous AHCTF1 14 82902 1.68874E-4 41451 0 2.81136E-5
1-247014709-T-C p.Ser1542Ser synonymous AHCTF1 1 82918 1.20601E-5 41459 0 NA
1-247014740-A-G p.Ile1532Thr missense AHCTF1 2 82930 2.41167E-5 41465 0 NA
1-247014752-A-G c.4591-8T>C splice_region AHCTF1 1 82860 1.20685E-5 41430 0 NA
1-247015341-CT-C n.1746-2delA splice_acceptor AHCTF1 2 41708 4.79524E-5 20854 0 NA
1-247016386-T-C c.4590+7A>G splice_region AHCTF1 1510 81038 0.0186332 40519 16 0.0263027
1-247016407-T-C p.Thr1526Ala missense AHCTF1 1 81504 1.22693E-5 40752 0 4.14731E-6
1-247016409-T-A p.Asp1525Val missense AHCTF1 1 81538 1.22642E-5 40769 0 NA
1-247016431-G-A p.Pro1518Ser missense AHCTF1 1 81766 1.223E-5 40883 0 3.18552E-5
1-247016438-T-G p.Glu1515Asp missense AHCTF1 1 81828 1.22208E-5 40914 0 4.12086E-6
1-247016446-G-T p.Pro1513Thr missense AHCTF1 2 81938 2.44087E-5 40969 0 4.06101E-6
1-247016472-C-A p.Gly1504Val missense AHCTF1 7 82430 8.49205E-5 41215 0 8.07735E-6
1-247016476-C-T p.Val1503Ile missense AHCTF1 1 82488 1.2123E-5 41244 0 1.21011E-5
1-247016493-T-A p.Glu1497Val missense AHCTF1 1 82680 1.20948E-5 41340 0 NA
1-247016497-T-G p.Lys1496Gln missense AHCTF1 1 82704 1.20913E-5 41352 0 NA
1-247016507-C-T p.Ala1492Ala synonymous AHCTF1 33 82710 3.98984E-4 41355 0 0.00187735
1-247016508-G-A p.Ala1492Val missense AHCTF1 2 82718 2.41785E-5 41359 0 4.35116E-5
1-247016519-G-T p.Asn1488Lys missense AHCTF1 2 82828 2.41464E-5 41414 0 8.58443E-6
1-247016529-C-T p.Arg1485His missense AHCTF1 72 82816 8.69397E-4 41408 0 8.28131E-4
1-247016529-C-A p.Arg1485Leu missense AHCTF1 4 82818 4.82987E-5 41409 0 6.37024E-5
1-247016530-G-A p.Arg1485Cys missense AHCTF1 2 82830 2.41458E-5 41415 0 2.5482E-5
1-247016533-C-T p.Glu1484Lys missense AHCTF1 2 82866 2.41354E-5 41433 0 1.1953E-5
1-247016548-C-A p.Gly1479Cys missense AHCTF1 4 82858 4.82754E-5 41429 0 7.56984E-5
1-247016549-T-C p.Glu1478Glu synonymous AHCTF1 1 82862 1.20683E-5 41431 0 2.53109E-5
1-247016560-T-C p.Thr1475Ala missense AHCTF1 2 82852 2.41394E-5 41426 0 1.69417E-5
1-247016564-C-T p.Ser1473Ser synonymous AHCTF1 1 82832 1.20726E-5 41416 0 2.39166E-5
1-247016564-C-CGAG p.Ser1473dup disruptive_inframe_insertion AHCTF1 1 82832 1.20726E-5 41416 0 7.97219E-6
1-247016565-G-A p.Ser1473Leu missense AHCTF1 2 82844 2.41418E-5 41422 0 1.70175E-5
1-247016580-T-C p.Asp1468Gly missense AHCTF1 30 82816 3.62249E-4 41408 0 1.7452E-5
1-247016587-G-A p.Leu1466Phe missense AHCTF1 3 82804 3.62301E-5 41402 0 5.21732E-5
1-247019025-T-C c.4381+7A>G splice_region AHCTF1 1 82184 1.21678E-5 41092 0 NA
1-247019043-T-C p.Asn1457Ser missense AHCTF1 1 82722 1.20887E-5 41361 0 3.18451E-5
1-247019049-C-G p.Arg1455Thr missense AHCTF1 2 82838 2.41435E-5 41419 0 4.12446E-5
1-247019056-C-T p.Ala1453Thr missense AHCTF1 1 82924 1.20592E-5 41462 0 4.40271E-5
1-247019057-A-G p.Pro1452Pro synonymous AHCTF1 1 82944 1.20563E-5 41472 0 6.80229E-5
1-247019060-G-C p.Thr1451Thr synonymous AHCTF1 1 82968 1.20528E-5 41484 0 NA
1-247019061-G-A p.Thr1451Ile missense AHCTF1 342 82960 0.00412247 41480 9 0.00872834
1-247019066-G-T p.Thr1449Thr synonymous AHCTF1 18 82996 2.16878E-4 41498 0 5.11087E-4
1-247019089-C-T p.Glu1442Lys missense AHCTF1 2 82994 2.40981E-5 41497 0 1.19742E-4
1-247019090-G-A p.Asp1441Asp synonymous AHCTF1 15 82968 1.80793E-4 41484 0 1.27405E-4
1-247019098-C-A p.Val1439Leu missense AHCTF1 1 82954 1.20549E-5 41477 0 3.99316E-6
1-247019101-G-A p.Pro1438Ser missense AHCTF1 1 82930 1.20584E-5 41465 0 1.64891E-5
1-247019113-T-C p.Lys1434Glu missense AHCTF1 1 82892 1.20639E-5 41446 0 3.99834E-6
1-247019123-G-C p.Ile1430Met missense AHCTF1 69 82858 8.3275E-4 41429 0 8.76395E-4
1-247020997-C-T p.Glu1427Lys missense AHCTF1 1 82696 1.20925E-5 41348 0 NA
1-247020998-A-G p.Tyr1426Tyr synonymous AHCTF1 1 82722 1.20887E-5 41361 0 NA
1-247020999-T-A p.Tyr1426Phe missense AHCTF1 4 82732 4.83489E-5 41366 0 5.04541E-4
1-247021035-T-C p.Gln1414Arg missense AHCTF1 1 83172 1.20233E-5 41586 0 3.97896E-6
1-247021044-C-T p.Ser1411Asn missense AHCTF1 1 83206 1.20184E-5 41603 0 NA
1-247021046-T-C p.Leu1410Leu synonymous AHCTF1 1 83206 1.20184E-5 41603 0 NA
1-247021055-C-G p.Leu1407Phe missense AHCTF1 13 83214 1.56224E-4 41607 0 2.42703E-4
1-247021056-A-C p.Leu1407Trp missense AHCTF1 1 83218 1.20166E-5 41609 0 NA
1-247021072-C-G p.Glu1402Gln missense AHCTF1 5 83206 6.00918E-5 41603 0 1.98965E-5
1-247021073-T-C p.Ala1401Ala synonymous AHCTF1 2 83198 2.4039E-5 41599 0 6.36689E-5
1-247021074-G-A p.Ala1401Val missense AHCTF1 1 83198 1.20195E-5 41599 0 3.97934E-6
1-247021076-T-G p.Ala1400Ala synonymous AHCTF1 1 83204 1.20187E-5 41602 0 6.36943E-5
1-247021085-G-C p.Leu1397Leu synonymous AHCTF1 10115 82858 0.122076 41429 1046 0.175515
1-247024201-C-G p.Gly1387Arg missense+splice_region AHCTF1 2 81750 2.44648E-5 40875 0 1.20625E-5
1-247024201-C-A p.Gly1387Cys missense+splice_region AHCTF1 2 81756 2.4463E-5 40878 0 NA
1-247024214-T-C p.Leu1382Leu synonymous AHCTF1 1 81746 1.2233E-5 40873 0 NA
1-247024225-G-T p.Pro1379Thr missense AHCTF1 1 81754 1.22318E-5 40877 0 8.36344E-6
1-247024231-C-A p.Val1377Leu missense AHCTF1 6 81762 7.33837E-5 40881 0 1.20305E-5
1-247024235-T-G p.Ser1375Ser synonymous AHCTF1 1 81764 1.22303E-5 40882 0 5.01035E-5
1-247024235-T-C p.Ser1375Ser synonymous AHCTF1 1 81764 1.22303E-5 40882 0 4.00924E-6
1-247024238-T-G p.Ala1374Ala synonymous AHCTF1 1 81766 1.223E-5 40883 0 NA
1-247024252-T-C p.Lys1370Glu missense AHCTF1 1 81768 1.22297E-5 40884 0 2.0024E-5
1-247024259-A-G p.Asp1367Asp synonymous AHCTF1 1 81744 1.22333E-5 40872 0 NA
1-247024262-C-A p.Lys1366Asn missense AHCTF1 1 81748 1.22327E-5 40874 0 NA
1-247024288-T-C p.Thr1358Ala missense AHCTF1 606 81724 0.0074152 40862 2 0.00742038
1-247024290-G-C p.Thr1357Ser missense AHCTF1 1 81768 1.22297E-5 40884 0 1.65448E-5
1-247024301-G-A p.Ser1353Ser synonymous AHCTF1 2 81796 2.44511E-5 40898 0 3.18471E-5
1-247024318-T-C p.Lys1348Glu missense AHCTF1 1 81840 1.2219E-5 40920 0 1.64919E-5
1-247024326-G-A p.Thr1345Met missense AHCTF1 2738 81514 0.0335893 40757 48 0.0275
1-247024333-C-T p.Val1343Ile missense AHCTF1 1 81874 1.22139E-5 40937 0 7.96197E-6
1-247024334-A-G p.Thr1342Thr synonymous AHCTF1 1 81872 1.22142E-5 40936 0 NA
1-247024342-C-G p.Glu1340Gln missense AHCTF1 2 81910 2.4417E-5 40955 0 3.1841E-5
1-247024343-A-G p.Leu1339Leu synonymous AHCTF1 1 81916 1.22076E-5 40958 0 8.2428E-6
1-247024345-G-T p.Leu1339Ile missense AHCTF1 2 81924 2.44129E-5 40962 0 8.24239E-6
1-247024345-G-A p.Leu1339Phe missense AHCTF1 3 81924 3.66193E-5 40962 0 5.17355E-5
1-247024352-C-T p.Pro1336Pro synonymous AHCTF1 14 81952 1.70832E-4 40976 0 0.00107181
1-247024365-T-A p.Asp1332Val missense AHCTF1 1 82062 1.21859E-5 41031 0 NA
1-247024376-T-C p.Leu1328Leu synonymous AHCTF1 1 82100 1.21803E-5 41050 0 NA
1-247024391-G-T p.Ser1323Ser synonymous AHCTF1 1 82236 1.21601E-5 41118 0 3.29951E-5
1-247024392-G-C p.Ser1323Cys missense AHCTF1 7 82276 8.50795E-5 41138 0 9.55597E-5
1-247024399-T-C p.Ile1321Val missense AHCTF1 388 82346 0.00471183 41173 6 0.0093961
1-247024428-T-C p.Asp1311Gly missense AHCTF1 1 82808 1.20761E-5 41404 0 3.18593E-5
1-247024443-C-T p.Ser1306Asn missense AHCTF1 1 83044 1.20418E-5 41522 0 NA
1-247024444-T-C p.Ser1306Gly missense AHCTF1 1 83052 1.20406E-5 41526 0 7.95412E-6
1-247024454-C-T p.Glu1302Glu synonymous AHCTF1 1 83114 1.20317E-5 41557 0 3.97693E-6
1-247024477-T-C p.Lys1295Glu missense AHCTF1 1 83150 1.20265E-5 41575 0 NA
1-247024490-C-A p.Leu1290Leu synonymous AHCTF1 1 83120 1.20308E-5 41560 0 NA
1-247024505-G-A p.Thr1285Thr synonymous AHCTF1 114 83056 0.00137257 41528 0 0.00331379
1-247024528-A-G p.Trp1278Arg missense AHCTF1 4 83154 4.81035E-5 41577 0 9.55171E-5
1-247024535-T-G p.Glu1275Asp missense AHCTF1 1 83158 1.20253E-5 41579 0 4.06696E-6
1-247024546-C-T p.Val1272Ile missense AHCTF1 3 83182 3.60655E-5 41591 0 NA
1-247024560-G-C p.Pro1267Arg missense AHCTF1 3 83184 3.60646E-5 41592 0 1.00945E-5
1-247024560-G-A p.Pro1267Leu missense AHCTF1 1 83184 1.20215E-5 41592 0 4.12154E-6
1-247024560-G-T p.Pro1267His missense AHCTF1 1 83184 1.20215E-5 41592 0 NA
1-247024563-G-A p.Thr1266Ile missense AHCTF1 4 83182 4.80873E-5 41591 0 9.55597E-5
1-247024563-G-T p.Thr1266Lys missense AHCTF1 2 83182 2.40437E-5 41591 0 2.02901E-5
1-247024564-T-C p.Thr1266Ala missense AHCTF1 11 83190 1.32227E-4 41595 0 6.10054E-5
1-247024599-TGTAAA-T c.3763-7_3763-3delTTTAC splice_region AHCTF1 2 83176 2.40454E-5 41588 0 4.23908E-6
1-247024601-T-C c.3763-4A>G splice_region AHCTF1 1 83160 1.2025E-5 41580 0 4.26679E-6
1-247024603-A-C c.3763-6T>G splice_region AHCTF1 3 83138 3.60846E-5 41569 0 NA
1-247025285-ATCT-A p.Glu1245del disruptive_inframe_deletion AHCTF1 2 82634 2.42031E-5 41317 0 1.20474E-5
1-247025287-C-T p.Asp1246Asn missense AHCTF1 1 82646 1.20998E-5 41323 0 NA
1-247025287-C-G p.Asp1246His missense AHCTF1 2 82644 2.42002E-5 41322 0 NA
1-247025312-T-G p.Glu1237Asp missense AHCTF1 1 82978 1.20514E-5 41489 0 8.29064E-6
1-247025322-C-T p.Arg1234Gln missense AHCTF1 1 83006 1.20473E-5 41503 0 NA
1-247025341-G-A p.Pro1228Ser missense AHCTF1 76 82932 9.16413E-4 41466 1 0.00187735
1-247025345-T-G p.Pro1226Pro synonymous AHCTF1 4 82904 4.82486E-5 41452 0 3.82166E-4
1-247025345-T-A p.Pro1226Pro synonymous AHCTF1 1 82904 1.20621E-5 41452 0 NA
1-247025352-G-A p.Pro1224Leu missense AHCTF1 1 82818 1.20747E-5 41409 0 8.33639E-6
1-247025359-C-T p.Ala1222Thr missense AHCTF1 1 82670 1.20963E-5 41335 0 NA
1-247025368-T-C p.Thr1219Ala missense AHCTF1 1 82548 1.21142E-5 41274 0 NA
1-247025373-C-T p.Arg1217Gln missense AHCTF1 1 82398 1.21362E-5 41199 0 8.39419E-6
1-247025374-G-C p.Arg1217Gly missense AHCTF1 1 82392 1.21371E-5 41196 0 NA
1-247025423-A-G p.Thr1200Thr synonymous AHCTF1 1 81980 1.21981E-5 40990 0 1.71201E-5
1-247025424-G-C p.Thr1200Ser missense AHCTF1 1 81964 1.22005E-5 40982 0 8.56194E-6
1-247025431-C-A p.Val1198Phe missense AHCTF1 1 81880 1.2213E-5 40940 0 NA
1-247025431-C-G p.Val1198Leu missense AHCTF1 1 81880 1.2213E-5 40940 0 3.43826E-5
1-247025449-T-C p.Lys1192Glu missense AHCTF1 1 81686 1.2242E-5 40843 0 NA
1-247025460-A-G c.3568-5T>C splice_region AHCTF1 2 81588 2.45134E-5 40794 0 4.11269E-6
1-247027240-G-A p.Pro1185Ser missense AHCTF1 2 81958 2.44027E-5 40979 0 3.1837E-5
1-247027254-T-C p.His1180Arg missense AHCTF1 1 82034 1.21901E-5 41017 0 3.97852E-6
1-247027255-G-T p.His1180Asn missense AHCTF1 1 82034 1.21901E-5 41017 0 NA
1-247027255-G-C p.His1180Asp missense AHCTF1 2 82034 2.43801E-5 41017 0 1.2738E-4
1-247027256-T-C p.Leu1179Leu synonymous AHCTF1 1 82030 1.21907E-5 41015 0 NA
1-247027271-G-A p.Ser1174Ser synonymous AHCTF1 2 82154 2.43445E-5 41077 0 3.18492E-5
1-247027275-A-G p.Ile1173Thr missense AHCTF1 1 82192 1.21666E-5 41096 0 3.97712E-6
1-247027299-T-A p.Gln1165Leu missense AHCTF1 1 82492 1.21224E-5 41246 0 NA
1-247027301-C-T p.Ser1164Ser synonymous AHCTF1 1 82510 1.21197E-5 41255 0 1.64807E-5
1-247027301-C-A p.Ser1164Ser synonymous AHCTF1 1 82510 1.21197E-5 41255 0 7.95349E-5
1-247027302-G-A p.Ser1164Leu missense AHCTF1 4 82536 4.84637E-5 41268 0 9.55597E-5
1-247027320-C-T p.Arg1158His missense AHCTF1 1 82790 1.20788E-5 41395 0 8.24416E-6
1-247027321-G-A p.Arg1158Cys missense AHCTF1 27 82808 3.26055E-4 41404 0 3.82214E-4
1-247027321-G-T p.Arg1158Ser missense AHCTF1 3 82812 3.62266E-5 41406 0 6.25E-4
1-247027330-G-C p.Leu1155Val missense AHCTF1 1 82960 1.2054E-5 41480 0 3.29832E-5
1-247027334-C-G p.Leu1153Phe missense AHCTF1 1 82998 1.20485E-5 41499 0 3.18492E-5
1-247027350-G-A p.Ser1148Phe missense AHCTF1 1 83176 1.20227E-5 41588 0 1.1934E-5
1-247027358-C-A p.Gln1145His missense AHCTF1 1 83218 1.20166E-5 41609 0 8.25914E-6
1-247027370-C-T p.Ser1141Ser synonymous AHCTF1 2 83256 2.40223E-5 41628 0 8.35934E-5
1-247027375-A-G p.Cys1140Arg missense AHCTF1 2 83280 2.40154E-5 41640 0 1.65333E-5
1-247027382-A-G p.Pro1137Pro synonymous AHCTF1 1031 83228 0.0123877 41614 8 0.0144304
1-247027386-C-T p.Arg1136Gln missense AHCTF1 1 83282 1.20074E-5 41641 0 3.3094E-5
1-247027387-G-A p.Arg1136Trp missense AHCTF1 2 83284 2.40142E-5 41642 0 3.98343E-6
1-247027405-C-G p.Val1130Leu missense AHCTF1 1 83264 1.201E-5 41632 0 8.28569E-6
1-247030545-C-A c.3374+1G>T splice_donor AHCTF1 58 81216 7.14145E-4 40608 0 0.00105963
1-247030545-C-T c.3374+1G>A splice_donor AHCTF1 1 81216 1.23128E-5 40608 0 3.26041E-5
1-247030546-C-A p.Arg1125Ile missense+splice_region AHCTF1 1 81260 1.23062E-5 40630 0 NA
1-247030547-T-C p.Arg1125Gly missense+splice_region AHCTF1 25 81310 3.07465E-4 40655 0 5.41574E-4
1-247030554-T-C p.Lys1122Lys synonymous AHCTF1 3 81450 3.68324E-5 40725 0 1.27429E-4
1-247030558-T-C p.Gln1121Arg missense AHCTF1 1 81536 1.22645E-5 40768 0 9.55597E-5
1-247030565-C-T p.Ala1119Thr missense AHCTF1 2 81616 2.4505E-5 40808 0 9.58283E-5
1-247030568-T-C p.Lys1118Glu missense AHCTF1 1 81654 1.22468E-5 40827 0 4.10755E-6
1-247030574-T-C p.Ile1116Val missense AHCTF1 1 81774 1.22288E-5 40887 0 NA
1-247030575-T-G p.Pro1115Pro synonymous AHCTF1 2 81780 2.44559E-5 40890 0 1.13955E-5
1-247030579-G-A p.Thr1114Ile missense AHCTF1 1 81862 1.22157E-5 40931 0 NA
1-247030580-T-C p.Thr1114Ala missense AHCTF1 1 81888 1.22118E-5 40944 0 NA
1-247030596-A-G p.Pro1108Pro synonymous AHCTF1 1 82230 1.2161E-5 41115 0 NA
1-247030613-G-A p.Pro1103Ser missense AHCTF1 1 82440 1.213E-5 41220 0 4.14516E-5
1-247030617-C-T p.Ser1101Ser synonymous AHCTF1 4 82426 4.85284E-5 41213 0 6.34518E-4
1-247030618-G-A p.Ser1101Leu missense AHCTF1 2 82476 2.42495E-5 41238 0 8.39683E-5
1-247030625-C-T p.Val1099Met missense AHCTF1 1 82482 1.21239E-5 41241 0 4.2044E-6
1-247030628-T-C p.Ile1098Val missense AHCTF1 1 82512 1.21194E-5 41256 0 1.27555E-5
1-247030631-G-A p.Pro1097Ser missense AHCTF1 1 82492 1.21224E-5 41246 0 3.18715E-5
1-247030635-T-C p.Pro1095Pro synonymous AHCTF1 3 82374 3.64193E-5 41187 0 1.84332E-4
1-247030638-T-C p.Glu1094Glu synonymous AHCTF1 6 82322 7.28845E-5 41161 0 3.18613E-5
1-247030660-A-G c.3267-7T>C splice_region AHCTF1 1 81788 1.22267E-5 40894 0 6.25782E-4
1-247030959-A-G c.3266+4T>C splice_region AHCTF1 1 81964 1.22005E-5 40982 0 3.18431E-5
1-247030971-A-G p.Pro1086Pro synonymous AHCTF1 2 82078 2.43671E-5 41039 0 8.2375E-6
1-247030981-C-G p.Ser1083Thr missense AHCTF1 2 82224 2.43238E-5 41112 0 7.97983E-6
1-247030981-C-T p.Ser1083Asn missense AHCTF1 1 82224 1.21619E-5 41112 0 3.18613E-5
1-247031001-T-G p.Ala1076Ala synonymous AHCTF1 1 82572 1.21106E-5 41286 0 7.17057E-5
1-247031004-C-G p.Trp1075Cys missense AHCTF1 1 82598 1.21068E-5 41299 0 8.23859E-6
1-247031032-T-C p.Asn1066Ser missense AHCTF1 33 83074 3.97236E-4 41537 0 1.99186E-4
1-247031045-C-G p.Val1062Leu missense AHCTF1 1 83110 1.20322E-5 41555 0 NA
1-247031047-G-C p.Ser1061Cys missense AHCTF1 1 83122 1.20305E-5 41561 0 1.19553E-5
1-247031052-T-C p.Thr1059Thr synonymous AHCTF1 2 83122 2.4061E-5 41561 0 NA
1-247031062-G-A p.Thr1056Ile missense AHCTF1 3 83094 3.61037E-5 41547 0 NA
1-247031082-T-G p.Pro1049Pro synonymous AHCTF1 1 83072 1.20378E-5 41536 0 8.31269E-6
1-247031094-T-C p.Leu1045Leu synonymous AHCTF1 1 83030 1.20438E-5 41515 0 0.00151057
1-247031103-G-C p.Pro1042Pro synonymous AHCTF1 1 82992 1.20494E-5 41496 0 NA
1-247031114-C-G c.3116-1G>C splice_acceptor AHCTF1 1 82886 1.20648E-5 41443 0 4.12303E-6
1-247031117-T-C c.3116-4A>G splice_region AHCTF1 4 82844 4.82835E-5 41422 0 6.2703E-4
1-247039344-C-T p.Arg1037Gln missense AHCTF1 2 81256 2.46136E-5 40628 0 3.18735E-5
1-247039370-A-G p.Tyr1028Tyr synonymous AHCTF1 1 81706 1.2239E-5 40853 0 8.7644E-6
1-247039383-C-T p.Arg1024Gln missense AHCTF1 1 81846 1.22181E-5 40923 0 9.55901E-5
1-247039389-A-G p.Ile1022Thr missense AHCTF1 6 81910 7.32511E-5 40955 0 0.0010101
1-247039412-A-G p.Pro1014Pro synonymous AHCTF1 1 82198 1.21657E-5 41099 0 6.3674E-5
1-247039441-T-C p.Ile1005Val missense AHCTF1 3 82518 3.63557E-5 41259 0 4.6268E-5
1-247039449-C-T p.Arg1002Gln missense AHCTF1 1 82508 1.212E-5 41254 0 3.18492E-5
1-247039458-G-C p.Ser999* stop_gained AHCTF1 1 82586 1.21086E-5 41293 0 NA
1-247039461-C-G p.Arg998Thr missense AHCTF1 1 82596 1.21071E-5 41298 0 NA
1-247039467-C-T p.Arg996Gln missense AHCTF1 3 82598 3.63205E-5 41299 0 3.18471E-5
1-247039473-C-T p.Arg994His missense AHCTF1 18 82552 2.18044E-4 41276 1 1.37349E-4
1-247039473-C-A p.Arg994Leu missense AHCTF1 1 82552 1.21136E-5 41276 0 NA
1-247039477-G-T p.Pro993Thr missense AHCTF1 1 82576 1.21101E-5 41288 0 3.73057E-5
1-247039477-G-C p.Pro993Ala missense AHCTF1 1 82576 1.21101E-5 41288 0 NA
1-247039481-A-G p.Arg991Arg synonymous AHCTF1 2 82590 2.4216E-5 41295 0 1.10075E-4
1-247040248-G-A c.2964+4C>T splice_region AHCTF1 7 80642 8.68034E-5 40321 0 3.32055E-5
1-247040260-T-C p.Asn986Asp missense AHCTF1 4 81130 4.93036E-5 40565 0 3.18431E-4
1-247040261-A-C p.Ile985Met missense AHCTF1 31 81182 3.81858E-4 40591 0 0.00117804
1-247040263-T-C p.Ile985Val missense AHCTF1 1 81268 1.2305E-5 40634 0 NA
1-247040273-T-A p.Gln981His missense AHCTF1 1 81578 1.22582E-5 40789 0 NA
1-247040294-C-A p.Val974Val synonymous AHCTF1 5 82004 6.09726E-5 41002 0 NA
1-247040301-T-C p.Asn972Ser missense AHCTF1 5 82134 6.08761E-5 41067 0 7.16441E-5
1-247040303-G-A p.Ala971Ala synonymous AHCTF1 1 82166 1.21705E-5 41083 0 6.28141E-4
1-247040307-C-T p.Arg970His missense AHCTF1 7 82222 8.51354E-5 41111 0 1.64921E-5
1-247040308-G-A p.Arg970Cys missense AHCTF1 1 82244 1.21589E-5 41122 0 1.59219E-5
1-247040330-G-A p.Phe962Phe synonymous AHCTF1 2 82582 2.42184E-5 41291 0 0.00100908
1-247040330-G-C p.Phe962Leu missense AHCTF1 1 82582 1.21092E-5 41291 0 NA
1-247040347-C-T p.Val957Ile missense AHCTF1 6 82832 7.24358E-5 41416 0 0.00151362
1-247040348-G-A p.Ser956Ser synonymous AHCTF1 3 82838 3.62153E-5 41419 0 2.30825E-4
1-247040368-A-C p.Phe950Val missense AHCTF1 1 82976 1.20517E-5 41488 0 8.24484E-6
1-247040378-A-G p.Cys946Cys synonymous AHCTF1 1 83006 1.20473E-5 41503 0 NA
1-247040456-T-C c.2832+4A>G splice_region AHCTF1 1 83048 1.20412E-5 41524 0 7.97664E-6
1-247040471-C-T p.Asp941Asn missense AHCTF1 1 83044 1.20418E-5 41522 0 NA
1-247040479-G-A p.Pro938Leu missense AHCTF1 1 83022 1.2045E-5 41511 0 NA
1-247040483-A-G p.Leu937Leu synonymous AHCTF1 29 83028 3.4928E-4 41514 1 8.87205E-4
1-247040498-C-T p.Glu932Lys missense AHCTF1 1 82986 1.20502E-5 41493 0 8.27267E-6
1-247040506-C-T p.Gly929Asp missense AHCTF1 1 82998 1.20485E-5 41499 0 NA
1-247040513-C-T p.Glu927Lys missense AHCTF1 2 82938 2.41144E-5 41469 0 1.24197E-4
1-247040516-G-T p.Gln926Lys missense AHCTF1 1 82924 1.20592E-5 41462 0 NA
1-247040520-G-T p.Val924Val synonymous AHCTF1 3 82898 3.61891E-5 41449 0 NA
1-247040522-C-A p.Val924Phe missense AHCTF1 2 82884 2.41301E-5 41442 0 NA
1-247040531-T-C p.Met921Val missense AHCTF1 1715 82718 0.0207331 41359 24 0.0184448
1-247040535-C-T p.Lys919Lys synonymous AHCTF1 1 82768 1.2082E-5 41384 0 8.29986E-6
1-247040539-A-G p.Leu918Pro missense AHCTF1 1 82746 1.20852E-5 41373 0 NA
1-247040547-C-T p.Glu915Glu synonymous AHCTF1 2 82622 2.42066E-5 41311 0 1.2018E-5
1-247040552-T-C p.Ile914Val missense AHCTF1 1 82530 1.21168E-5 41265 0 NA
1-247040553-A-G p.Asn913Asn synonymous AHCTF1 1 82512 1.21194E-5 41256 0 NA
1-247040568-A-G p.His908His synonymous AHCTF1 4 82220 4.865E-5 41110 0 6.66189E-5
1-247040569-T-C p.His908Arg missense AHCTF1 2 82214 2.43268E-5 41107 0 NA
1-247040570-G-A p.His908Tyr missense AHCTF1 1 82192 1.21666E-5 41096 0 3.35433E-5
1-247040571-T-C p.Gln907Gln synonymous AHCTF1 302 82152 0.00367611 41076 1 0.00413369
1-247040572-T-C p.Gln907Arg missense AHCTF1 19 82142 2.31307E-4 41071 1 0.00114307
1-247040575-C-T p.Arg906Gln missense AHCTF1 2 82078 2.43671E-5 41039 0 1.68572E-5
1-247040579-A-G p.Leu905Leu synonymous AHCTF1 1 81992 1.21963E-5 40996 0 NA
1-247040584-T-A p.Asn903Ile missense AHCTF1 1 81868 1.22148E-5 40934 0 NA
1-247040597-C-T p.Val899Ile missense AHCTF1 5 81540 6.13196E-5 40770 0 6.37024E-5
1-247040599-A-G p.Met898Thr missense AHCTF1 1 81490 1.22714E-5 40745 0 NA
1-247040600-T-A p.Met898Leu missense AHCTF1 2 81448 2.45555E-5 40724 0 0.00125
1-247040604-C-T p.Arg896Arg splice_region+synonymous AHCTF1 1 81264 1.23056E-5 40632 0 1.72551E-5
1-247040607-GA-G c.2688-4delT splice_region AHCTF1 1 81122 1.23271E-5 40561 0 NA
1-247040611-GCAGT-G c.2688-11_2688-8delACTG splice_region AHCTF1 1 80826 1.23723E-5 40413 0 NA
1-247040612-C-G c.2688-8G>C splice_region AHCTF1 7 80740 8.6698E-5 40370 0 1.27429E-4
1-247048787-G-T c.2687+8C>A splice_region AHCTF1 2 80636 2.48028E-5 40318 0 3.66026E-5
1-247048787-G-A c.2687+8C>T splice_region AHCTF1 1 80636 1.24014E-5 40318 0 1.22009E-5
1-247048790-C-G c.2687+5G>C splice_region AHCTF1 1 80682 1.23943E-5 40341 0 NA
1-247048832-C-T p.Asp884Asn missense AHCTF1 2 81300 2.46002E-5 40650 0 1.27397E-4
1-247048834-T-C p.Asn883Ser missense AHCTF1 45304 80118 0.565466 40059 13480 0.635029
1-247048848-T-G p.Thr878Thr synonymous AHCTF1 1 81766 1.223E-5 40883 0 NA
1-247048854-C-T p.Lys876Lys synonymous AHCTF1 3 81822 3.6665E-5 40911 0 1.59654E-5
1-247048859-T-C p.Met875Val missense AHCTF1 1 81912 1.22082E-5 40956 0 7.9818E-6
1-247048867-A-C p.Ile872Ser missense AHCTF1 1 82000 1.21951E-5 41000 0 1.9952E-5
1-247048888-T-C p.His865Arg missense AHCTF1 3 82210 3.64919E-5 41105 0 3.18329E-5
1-247048892-C-T p.Glu864Lys missense AHCTF1 12 82230 1.45932E-4 41115 0 5.24659E-4
1-247048893-G-A p.Gly863Gly synonymous AHCTF1 5 82250 6.07903E-5 41125 0 4.30841E-5
1-247048904-T-A p.Met860Leu missense AHCTF1 3 82482 3.63716E-5 41241 0 6.25E-4
1-247048914-A-C p.Ile856Met missense AHCTF1 1 82614 1.21045E-5 41307 0 NA
1-247048927-T-C p.His852Arg missense AHCTF1 2 82730 2.4175E-5 41365 0 NA
1-247048936-GACA-G p.Leu848del disruptive_inframe_deletion AHCTF1 2 82782 2.41598E-5 41391 0 NA
1-247048937-A-G p.Ser849Pro missense AHCTF1 1 82784 1.20796E-5 41392 0 NA
1-247048946-T-G p.Lys846Gln missense AHCTF1 1 82824 1.20738E-5 41412 0 NA
1-247048952-T-C p.Thr844Ala missense AHCTF1 6 82844 7.24253E-5 41422 0 NA
1-247050515-C-G p.Glu833Gln missense+splice_region AHCTF1 1 82472 1.21253E-5 41236 0 NA
1-247050517-T-C p.Tyr832Cys missense AHCTF1 2 82492 2.42448E-5 41246 0 NA
1-247050526-T-C p.His829Arg missense AHCTF1 1 82568 1.21112E-5 41284 0 NA
1-247050550-A-G p.Ile821Thr missense AHCTF1 1 82970 1.20525E-5 41485 0 7.96876E-6
1-247050569-A-G p.Trp815Arg missense AHCTF1 1 83164 1.20244E-5 41582 0 8.24579E-6
1-247050571-G-A p.Ser814Phe missense AHCTF1 1 83170 1.20236E-5 41585 0 3.18492E-5
1-247050575-T-C p.Ile813Val missense AHCTF1 7 83176 8.41589E-5 41588 0 9.56358E-5
1-247050578-C-T p.Ala812Thr missense AHCTF1 1 83178 1.20224E-5 41589 0 NA
1-247050609-G-A p.Asp801Asp synonymous AHCTF1 4 83200 4.80769E-5 41600 0 1.07703E-4
1-247050613-G-A p.Thr800Ile missense AHCTF1 1 83212 1.20175E-5 41606 0 NA
1-247050621-G-C p.Pro797Pro synonymous AHCTF1 1 83184 1.20215E-5 41592 0 NA
1-247050622-G-A p.Pro797Leu missense AHCTF1 2 83176 2.40454E-5 41588 0 NA
1-247050633-C-T p.Met793Ile missense AHCTF1 2 83142 2.40552E-5 41571 0 6.37308E-5
1-247050634-A-G p.Met793Thr missense AHCTF1 10 83142 1.20276E-4 41571 0 6.25E-4
1-247050635-T-C p.Met793Val missense AHCTF1 1 83140 1.20279E-5 41570 0 NA
1-247050637-A-G p.Ile792Thr missense AHCTF1 1 83136 1.20285E-5 41568 0 4.1349E-5
1-247050638-T-C p.Ile792Val missense AHCTF1 2 83136 2.4057E-5 41568 0 NA
1-247050658-G-A p.Thr785Ile missense+splice_region AHCTF1 1 82984 1.20505E-5 41492 0 NA
1-247050660-CT-C c.2353-2delA splice_acceptor AHCTF1 1 82982 1.20508E-5 41491 0 NA
1-247050664-TA-T c.2353-6delT splice_region AHCTF1 1 82948 1.20557E-5 41474 0 1.66625E-5
1-247051481-T-C p.Ile784Val missense+splice_region AHCTF1 14 83174 1.68322E-4 41587 0 0.00100705
1-247051484-A-T p.Ser783Thr missense AHCTF1 1 83192 1.20204E-5 41596 0 8.25614E-6
1-247051506-G-A p.Gly775Gly synonymous AHCTF1 1 83216 1.20169E-5 41608 0 1.19376E-5
1-247051508-C-G p.Gly775Arg missense AHCTF1 1 83212 1.20175E-5 41606 0 NA
1-247051509-G-A p.Asp774Asp synonymous AHCTF1 9 83216 1.08152E-4 41608 1 5.03525E-4
1-247051512-T-C p.Leu773Leu synonymous AHCTF1 7 83220 8.41144E-5 41610 0 0.00151057
1-247051522-A-G p.Met770Thr missense AHCTF1 1 83220 1.20163E-5 41610 0 NA
1-247051533-T-G p.Ala766Ala splice_region+synonymous AHCTF1 1 83218 1.20166E-5 41609 0 NA
1-247051687-C-CA c.2295+8_2295+9insT splice_region AHCTF1 3 82624 3.63091E-5 41312 0 9.5511E-5
1-247051714-A-G p.Tyr759Tyr synonymous AHCTF1 428 82626 0.00517997 41313 1 0.00457577
1-247051760-C-T p.Arg744Gln missense AHCTF1 8 82896 9.65065E-5 41448 0 1.27356E-4
1-247051784-C-T p.Gly736Glu missense AHCTF1 1 83040 1.20424E-5 41520 0 NA
1-247051803-C-T p.Asp730Asn missense AHCTF1 8 83066 9.6309E-5 41533 1 6.30297E-4
1-247051804-G-A p.Pro729Pro synonymous AHCTF1 2 83044 2.40836E-5 41522 0 7.9701E-6
1-247051806-G-A p.Pro729Ser missense AHCTF1 1 83054 1.20404E-5 41527 0 3.98479E-6
1-247051808-T-A p.Asn728Ile missense AHCTF1 1 83038 1.20427E-5 41519 0 1.03596E-4
1-247051816-C-T p.Gly725Gly synonymous AHCTF1 1 83050 1.20409E-5 41525 0 NA
1-247051824-A-G c.2172-5T>C splice_region AHCTF1 1 83054 1.20404E-5 41527 0 3.20585E-5
1-247053277-C-T p.Arg721His missense AHCTF1 18 82062 2.19346E-4 41031 0 5.04541E-4
1-247053286-T-G p.Lys718Thr missense AHCTF1 5 82190 6.08347E-5 41095 0 3.1841E-5
1-247053292-C-T p.Arg716Gln missense AHCTF1 1 82268 1.21554E-5 41134 0 3.18573E-5
1-247053294-A-G p.Arg715Arg synonymous AHCTF1 1 82344 1.21442E-5 41172 0 8.25164E-6
1-247053295-C-T p.Arg715His missense AHCTF1 4 82336 4.85814E-5 41168 0 9.55718E-5
1-247053296-G-A p.Arg715Cys missense AHCTF1 20 82370 2.42807E-4 41185 0 1.59449E-4
1-247053298-C-G p.Ser714Thr missense AHCTF1 1 82462 1.21268E-5 41231 0 3.98559E-6
1-247053307-T-C p.Tyr711Cys missense AHCTF1 1 82602 1.21062E-5 41301 0 6.36862E-5
1-247053318-T-A p.Val707Val synonymous AHCTF1 1 82732 1.20872E-5 41366 0 3.18684E-5
1-247053322-G-C p.Pro706Arg missense AHCTF1 1 82780 1.20802E-5 41390 0 3.98371E-6
1-247053323-G-C p.Pro706Ala missense AHCTF1 1 82794 1.20782E-5 41397 0 NA
1-247053335-A-G p.Cys702Arg missense AHCTF1 1 82868 1.20674E-5 41434 0 1.59481E-5
1-247053348-C-T p.Gln697Gln synonymous AHCTF1 655 82852 0.00790566 41426 14 0.017137
1-247053355-G-C p.Ser695Cys missense AHCTF1 289 82854 0.00348806 41427 3 0.00376884
1-247053366-A-G c.2078-5T>C splice_region AHCTF1 25 82722 3.02217E-4 41361 0 0.00163587
1-247054303-C-T p.Val678Met missense AHCTF1 4 81958 4.88055E-5 40979 0 1.39584E-5
1-247054324-G-A p.Leu671Phe missense AHCTF1 1 82032 1.21904E-5 41016 0 9.41442E-6
1-247054327-G-A p.His670Tyr missense AHCTF1 1 81996 1.21957E-5 40998 0 NA
1-247054333-C-T p.Val668Ile missense AHCTF1 27 81928 3.29558E-4 40964 0 0.00100908
1-247054344-T-C p.Asn664Ser missense AHCTF1 315 81894 0.00384644 40947 1 0.0038774
1-247054344-T-TTTTTC p.Asn664fs frameshift AHCTF1 1 81902 1.22097E-5 40951 0 NA
1-247054346-G-C p.Ser663Arg missense AHCTF1 1 81900 1.221E-5 40950 0 NA
1-247054348-T-G p.Ser663Arg missense AHCTF1 1 81886 1.22121E-5 40943 0 NA
1-247054352-G-T p.Asp661Glu missense AHCTF1 1 81940 1.22041E-5 40970 0 NA
1-247055076-C-T c.1972+5G>A splice_region AHCTF1 187 82358 0.00227057 41179 1 0.00449159
1-247055077-G-A c.1972+4C>T splice_region AHCTF1 3 82388 3.64131E-5 41194 0 2.03566E-5
1-247055082-T-C p.Arg657Arg splice_region+synonymous AHCTF1 1 82470 1.21256E-5 41235 0 6.36943E-5
1-247055091-G-C p.Ile654Met missense AHCTF1 2 82596 2.42142E-5 41298 0 1.61353E-5
1-247055097-T-G p.Arg652Arg synonymous AHCTF1 1 82682 1.20945E-5 41341 0 8.26884E-6
1-247055098-C-T p.Arg652Gln missense AHCTF1 1 82686 1.20939E-5 41343 0 8.04305E-6
1-247055100-G-A p.Ala651Ala synonymous AHCTF1 3 82708 3.62722E-5 41354 0 3.30693E-5
1-247055101-G-A p.Ala651Val missense AHCTF1 1 82732 1.20872E-5 41366 0 2.48008E-5
1-247055105-C-G p.Glu650Gln missense AHCTF1 2 82804 2.41534E-5 41402 0 3.3066E-5
1-247055113-A-C p.Phe647Cys missense AHCTF1 1 82894 1.20636E-5 41447 0 NA
1-247055132-T-C p.Asn641Asp missense AHCTF1 1 83120 1.20308E-5 41560 0 6.37064E-5
1-247055140-C-T p.Ser638Asn missense AHCTF1 21 83122 2.52641E-4 41561 0 5.04032E-4
1-247055157-T-C p.Gln632Gln synonymous AHCTF1 2 83156 2.40512E-5 41578 0 1.65481E-5
1-247055162-G-T p.Gln631Lys missense AHCTF1 1 83152 1.20262E-5 41576 0 8.27664E-6
1-247055171-G-C p.Gln628Glu missense AHCTF1 4 83158 4.81012E-5 41579 0 8.27815E-6
1-247055178-T-C p.Gln625Gln synonymous AHCTF1 3 83156 3.60768E-5 41578 0 9.55292E-5
1-247055199-C-T p.Ser618Ser synonymous AHCTF1 3 83118 3.60933E-5 41559 0 1.72633E-5
1-247055200-G-A p.Ser618Leu missense AHCTF1 2 83122 2.4061E-5 41561 0 4.31779E-6
1-247055205-A-T p.Asp616Glu missense AHCTF1 1 83128 1.20296E-5 41564 0 NA
1-247055214-T-C p.Pro613Pro synonymous AHCTF1 1 83102 1.20334E-5 41551 0 4.38274E-6
1-247057984-G-T p.Thr603Lys missense AHCTF1 1 82656 1.20983E-5 41328 0 NA
1-247057991-C-T p.Val601Ile missense AHCTF1 1 82788 1.2079E-5 41394 0 3.18451E-5
1-247057997-T-C p.Lys599Glu missense AHCTF1 2 82960 2.4108E-5 41480 0 3.97845E-6
1-247058004-C-G p.Thr596Thr synonymous AHCTF1 229 83038 0.00275777 41519 1 0.00688161
1-247058004-C-T p.Thr596Thr synonymous AHCTF1 3 83052 3.61219E-5 41526 0 8.27664E-6
1-247058005-G-A p.Thr596Met missense AHCTF1 23 83052 2.76935E-4 41526 0 3.18634E-4
1-247058015-G-A p.Leu593Phe missense AHCTF1 2 83148 2.40535E-5 41574 0 8.27732E-6
1-247058023-C-T p.Arg590His missense AHCTF1 9 83142 1.08249E-4 41571 0 2.07077E-4
1-247058023-C-A p.Arg590Leu missense AHCTF1 1 83142 1.20276E-5 41571 0 NA
1-247058024-G-A p.Arg590Cys missense AHCTF1 3 83150 3.60794E-5 41575 0 NA
1-247058044-G-A p.Pro583Leu missense AHCTF1 1 83124 1.20302E-5 41562 0 8.35953E-6
1-247059134-T-C c.1741+3A>G splice_region AHCTF1 7 82596 8.47499E-5 41298 0 NA
1-247059141-T-C p.Thr579Thr synonymous AHCTF1 2 82720 2.41779E-5 41360 0 NA
1-247059185-T-C p.Ser565Gly missense AHCTF1 2 82966 2.41063E-5 41483 0 NA
1-247059194-T-C p.Ile562Val missense AHCTF1 5 82966 6.02657E-5 41483 0 3.98067E-5
1-247059195-T-C p.Ala561Ala synonymous AHCTF1 1 82966 1.20531E-5 41483 0 3.98153E-6
1-247059210-A-G p.Ala556Ala synonymous AHCTF1 4 82952 4.82207E-5 41476 0 9.55231E-5
1-247059213-T-G p.Glu555Asp missense AHCTF1 10 82924 1.20592E-4 41462 0 4.78648E-5
1-247059224-C-T p.Glu552Lys missense AHCTF1 6 82828 7.24393E-5 41414 0 NA
1-247061511-T-A p.Gln550Leu missense+splice_region AHCTF1 1 82316 1.21483E-5 41158 0 3.98352E-6
1-247061528-C-T p.Gln544Gln synonymous AHCTF1 4 82360 4.85673E-5 41180 0 3.98E-6
1-247061529-T-G p.Gln544Pro missense AHCTF1 2 82366 2.42819E-5 41183 0 6.37024E-5
1-247061548-G-A p.Pro538Ser missense AHCTF1 4 82490 4.84907E-5 41245 0 2.78532E-5
1-247061555-A-G p.Leu535Leu synonymous AHCTF1 1 82580 1.21095E-5 41290 0 NA
1-247061555-AA-GC p.Leu535Arg missense AHCTF1 1 82580 1.21095E-5 41290 0 NA
1-247061574-C-T p.Arg529Gln missense AHCTF1 4 82862 4.8273E-5 41431 0 1.59114E-5
1-247061574-C-G p.Arg529Pro missense AHCTF1 1 82862 1.20683E-5 41431 0 3.97785E-6
1-247061575-G-T p.Arg529Arg synonymous AHCTF1 1 82882 1.20653E-5 41441 0 6.25E-4
1-247061577-T-C p.Asn528Ser missense AHCTF1 2 82920 2.41196E-5 41460 0 3.18492E-5
1-247061590-G-A p.Pro524Ser missense AHCTF1 3 83024 3.61341E-5 41512 0 3.18532E-5
1-247061597-T-A p.Glu521Asp missense AHCTF1 1 83068 1.20383E-5 41534 0 NA
1-247061600-A-G p.Asn520Asn synonymous AHCTF1 2 83080 2.40732E-5 41540 0 3.18251E-5
1-247061601-T-C p.Asn520Ser missense AHCTF1 6 83084 7.22161E-5 41542 0 2.47178E-5
1-247061609-T-C p.Pro517Pro synonymous AHCTF1 3 83084 3.6108E-5 41542 0 3.98013E-6
1-247061616-G-A p.Ser515Leu missense AHCTF1 1 83080 1.20366E-5 41540 0 3.984E-6
1-247061626-A-C p.Leu512Val missense AHCTF1 1 83050 1.20409E-5 41525 0 NA
1-247061630-A-C p.Thr510Thr synonymous AHCTF1 1 83036 1.2043E-5 41518 0 8.25178E-6
1-247061632-T-C p.Thr510Ala missense AHCTF1 1 83020 1.20453E-5 41510 0 NA
1-247062750-T-C c.1521+3A>G splice_region AHCTF1 2 82378 2.42783E-5 41189 0 4.13093E-5
1-247062770-T-C p.Thr502Ala missense AHCTF1 1 82600 1.21065E-5 41300 0 4.95499E-5
1-247062781-T-C p.His498Arg missense AHCTF1 2 82664 2.41943E-5 41332 0 3.18776E-5
1-247062792-C-T p.Ser494Ser synonymous AHCTF1 16 82566 1.93784E-4 41283 1 7.19282E-4
1-247062793-G-A p.Ser494Leu missense AHCTF1 1 82646 1.20998E-5 41323 0 6.38244E-5
1-247062816-T-TA c.1460-3_1460-2insT splice_region AHCTF1 1 82348 1.21436E-5 41174 0 4.29067E-5
1-247062821-A-C c.1460-7T>G splice_region AHCTF1 2 82238 2.43197E-5 41119 0 8.20526E-6
1-247063372-T-C p.Asn485Ser missense AHCTF1 1 80720 1.23885E-5 40360 0 1.25014E-5
1-247063374-A-G p.Tyr484Tyr synonymous AHCTF1 1 80750 1.23839E-5 40375 0 2.91286E-5
1-247063396-T-C p.Gln477Arg missense AHCTF1 1 80906 1.236E-5 40453 0 4.12008E-6
1-247063401-G-A p.Pro475Pro synonymous AHCTF1 13 81002 1.6049E-4 40501 0 1.2747E-4
1-247063403-G-A p.Pro475Ser missense AHCTF1 2 81046 2.46773E-5 40523 0 8.21133E-6
1-247063421-G-T p.Pro469Thr missense AHCTF1 1 81210 1.23138E-5 40605 0 NA
1-247063431-A-G p.Asn465Asn synonymous AHCTF1 1 81396 1.22856E-5 40698 0 2.03487E-5
1-247063432-T-C p.Asn465Ser missense AHCTF1 2 81396 2.45712E-5 40698 0 1.21822E-5
1-247063436-A-C p.Leu464Val missense AHCTF1 19 81488 2.33163E-4 40744 0 9.07834E-4
1-247063440-T-C p.Arg462Arg synonymous AHCTF1 1 81536 1.22645E-5 40768 0 3.18552E-5
1-247063447-T-C p.His460Arg missense AHCTF1 1 81710 1.22384E-5 40855 0 NA
1-247063457-T-C p.Ile457Val missense AHCTF1 1 81952 1.22023E-5 40976 0 NA
1-247063468-C-T p.Gly453Asp missense AHCTF1 1 82216 1.21631E-5 41108 0 NA
1-247063475-G-T p.Pro451Thr missense AHCTF1 2 82380 2.42777E-5 41190 0 9.55901E-5
1-247063475-G-A p.Pro451Ser missense AHCTF1 1 82380 1.21389E-5 41190 0 NA
1-247063487-T-C p.Ser447Gly missense AHCTF1 5 82582 6.05459E-5 41291 0 8.32071E-6
1-247063490-C-G p.Val446Leu missense AHCTF1 2 82594 2.42148E-5 41297 0 4.99293E-5
1-247063493-C-A p.Val445Phe missense AHCTF1 1 82670 1.20963E-5 41335 0 NA
1-247063501-A-C p.Leu442Trp missense AHCTF1 1 82746 1.20852E-5 41373 0 1.66406E-5
1-247063528-T-C p.Asn433Ser missense AHCTF1 3 83082 3.61089E-5 41541 0 1.27437E-4
1-247063552-A-C c.1278-4T>G splice_region AHCTF1 1 83182 1.20218E-5 41591 0 NA
1-247063635-A-C c.1277+4T>G splice_region AHCTF1 1 82910 1.20613E-5 41455 0 3.1839E-5
1-247063644-C-T p.Ser424Ser synonymous AHCTF1 2 82868 2.41348E-5 41434 0 9.75151E-5
1-247063660-G-C p.Ala419Gly missense AHCTF1 1 82798 1.20776E-5 41399 0 NA
1-247063673-G-A p.Arg415Cys missense AHCTF1 4 82808 4.83045E-5 41404 0 1.66019E-5
1-247063680-A-G p.Asp412Asp synonymous AHCTF1 2 82862 2.41365E-5 41431 1 NA
1-247063680-A-T p.Asp412Glu missense AHCTF1 1 82862 1.20683E-5 41431 0 4.30986E-6
1-247063688-G-A p.Leu410Phe missense AHCTF1 2 82892 2.41278E-5 41446 0 NA
1-247063698-T-C p.Val406Val synonymous AHCTF1 2 82968 2.41057E-5 41484 0 2.51357E-5
1-247063720-T-C p.Tyr399Cys missense AHCTF1 1 83002 1.20479E-5 41501 0 NA
1-247063722-T-C p.Ile398Met missense AHCTF1 1 83012 1.20465E-5 41506 0 8.34557E-6
1-247063730-C-T p.Val396Met missense AHCTF1 2 83006 2.40946E-5 41503 0 NA
1-247063733-G-C p.Gln395Glu missense AHCTF1 2 82992 2.40987E-5 41496 0 3.1841E-5
1-247063751-C-T p.Val389Ile missense AHCTF1 2 82946 2.41121E-5 41473 0 8.39166E-6
1-247063761-A-G p.Pro385Pro synonymous AHCTF1 1 82904 1.20621E-5 41452 0 8.89458E-6
1-247063778-G-A c.1145-7C>T splice_region AHCTF1 1 82672 1.2096E-5 41336 0 8.86525E-6
1-247065837-G-A p.Gly378Gly synonymous AHCTF1 37 81728 4.52721E-4 40864 0 6.82128E-4
1-247065857-G-A p.His372Tyr missense AHCTF1 5 82062 6.09295E-5 41031 0 NA
1-247065875-T-C p.Ile366Val missense AHCTF1 5 82234 6.08021E-5 41117 0 6.77539E-5
1-247065886-C-T p.Gly362Glu missense AHCTF1 1 82372 1.214E-5 41186 0 NA
1-247065910-T-C p.Gln354Arg missense AHCTF1 2 82746 2.41704E-5 41373 0 NA
1-247065917-T-C p.Arg352Gly missense AHCTF1 76 82840 9.17431E-4 41420 0 0.001875
1-247065920-A-G p.Leu351Leu synonymous AHCTF1 6 82912 7.23659E-5 41456 0 1.27413E-4
1-247065931-C-T p.Gly347Asp missense AHCTF1 1 83008 1.2047E-5 41504 0 8.23995E-6
1-247065975-C-G p.Gly332Gly splice_region+synonymous AHCTF1 1 83040 1.20424E-5 41520 0 3.18532E-5
1-247067272-T-C p.Ala324Ala synonymous AHCTF1 55 81386 6.75792E-4 40693 0 2.54891E-4
1-247067276-A-G p.Leu323Ser missense AHCTF1 1 81382 1.22877E-5 40691 0 NA
1-247067279-C-T p.Cys322Tyr missense AHCTF1 1 81410 1.22835E-5 40705 0 NA
1-247067318-C-T p.Ser309Asn missense AHCTF1 1 81296 1.23007E-5 40648 0 NA
1-247067325-C-T p.Val307Ile missense AHCTF1 21 81166 2.58729E-4 40583 0 2.86953E-4
1-247067327-T-C p.Asp306Gly missense AHCTF1 63 81086 7.76953E-4 40543 0 0.00453629
1-247067329-C-T p.Gly305Gly synonymous AHCTF1 3 81096 3.69932E-5 40548 0 2.47942E-5
1-247067334-C-T p.Glu304Lys missense+splice_region AHCTF1 1 80962 1.23515E-5 40481 0 NA
1-247067338-GA-G c.909-4delT splice_region AHCTF1 1 80858 1.23674E-5 40429 0 NA
1-247068853-T-C p.Thr300Ala missense AHCTF1 1 81524 1.22663E-5 40762 0 8.26187E-6
1-247068855-G-C p.Ser299Cys missense AHCTF1 1 81580 1.22579E-5 40790 0 NA
1-247068862-C-G p.Val297Leu missense AHCTF1 1 81702 1.22396E-5 40851 0 NA
1-247068869-C-G p.Leu294Phe missense AHCTF1 1 81872 1.22142E-5 40936 0 NA
1-247068885-C-T p.Arg289Gln missense AHCTF1 1 82066 1.21853E-5 41033 0 2.78578E-5
1-247068886-G-A p.Arg289Trp missense AHCTF1 1 82110 1.21788E-5 41055 0 1.64894E-5
1-247068896-C-G p.Glu285Asp missense AHCTF1 1 82250 1.21581E-5 41125 0 NA
1-247068900-G-A p.Pro284Leu missense AHCTF1 1 82272 1.21548E-5 41136 0 NA
1-247068913-T-C p.Thr280Ala missense AHCTF1 2 82326 2.42937E-5 41163 0 NA
1-247068916-C-T p.Val279Ile missense AHCTF1 2 82368 2.42813E-5 41184 0 1.6484E-5
1-247068921-T-C p.Tyr277Cys missense AHCTF1 1 82450 1.21286E-5 41225 0 8.24185E-6
1-247068939-C-G p.Ser271Thr missense AHCTF1 1 82614 1.21045E-5 41307 0 NA
1-247068943-C-A p.Glu270* stop_gained AHCTF1 1 82632 1.21018E-5 41316 0 NA
1-247068944-C-T p.Leu269Leu synonymous AHCTF1 2 82632 2.42037E-5 41316 0 NA
1-247068947-T-C p.Gln268Gln synonymous AHCTF1 2 82654 2.41973E-5 41327 0 1.65226E-5
1-247068953-G-A p.Tyr266Tyr synonymous AHCTF1 3 82640 3.6302E-5 41320 0 6.72947E-4
1-247068958-A-G p.Tyr265His missense+splice_region AHCTF1 3 82606 3.6317E-5 41303 0 1.59502E-5
1-247070849-T-G c.791+4A>C splice_region AHCTF1 2 81502 2.45393E-5 40751 0 NA
1-247070865-C-G p.Ser260Thr missense AHCTF1 1 81664 1.22453E-5 40832 0 NA
1-247070889-T-C p.Tyr252Cys missense AHCTF1 9 81800 1.10024E-4 40900 0 6.25E-4
1-247070893-C-T p.Gly251Ser missense AHCTF1 1 81818 1.22222E-5 40909 0 3.98302E-6
1-247070918-A-G p.Asn242Asn synonymous AHCTF1 1 81870 1.22145E-5 40935 0 8.23818E-6
1-247070924-C-T p.Arg240Arg synonymous AHCTF1 7 81882 8.54889E-5 40941 0 6.3674E-5
1-247070963-T-A p.Pro227Pro synonymous AHCTF1 2 82124 2.43534E-5 41062 0 3.29484E-5
1-247070963-T-C p.Pro227Pro synonymous AHCTF1 2 82124 2.43534E-5 41062 0 NA
1-247070990-G-A p.Arg218Arg synonymous AHCTF1 1 82418 1.21333E-5 41209 0 2.47113E-5
1-247070993-C-T p.Gly217Gly synonymous AHCTF1 4 82458 4.85095E-5 41229 0 NA
1-247071001-T-G p.Arg215Arg synonymous AHCTF1 1 82526 1.21174E-5 41263 0 1.19349E-5
1-247071008-A-G p.Ser212Ser synonymous AHCTF1 1 82628 1.21024E-5 41314 0 1.19348E-5
1-247071019-T-C p.Ile209Val missense AHCTF1 2 82692 2.41861E-5 41346 0 NA
1-247071021-T-C p.His208Arg missense AHCTF1 2 82684 2.41885E-5 41342 0 NA
1-247071038-G-C p.Ile202Met missense AHCTF1 10 82708 1.20907E-4 41354 0 5.04032E-4
1-247071049-G-C p.Leu199Val missense AHCTF1 1 82596 1.21071E-5 41298 0 NA
1-247071051-A-C p.Val198Gly missense AHCTF1 1 82600 1.21065E-5 41300 0 NA
1-247071067-C-T c.584-7G>A splice_region AHCTF1 1 82448 1.21289E-5 41224 0 NA
1-247076535-T-C p.Ser194Ser splice_region+synonymous AHCTF1 1 81970 1.21996E-5 40985 0 NA
1-247076540-C-T p.Ala193Thr missense AHCTF1 1 82114 1.21782E-5 41057 0 NA
1-247076555-G-C p.Gln188Glu missense AHCTF1 7 82410 8.49411E-5 41205 0 0.00151057
1-247076579-A-G p.Cys180Arg missense AHCTF1 1 82982 1.20508E-5 41491 0 1.23693E-4
1-247076580-T-C p.Leu179Leu synonymous AHCTF1 16 82976 1.92827E-4 41488 0 5.03525E-4
1-247076582-G-C p.Leu179Val missense AHCTF1 1 83004 1.20476E-5 41502 0 8.24538E-6
1-247076582-G-A p.Leu179Leu synonymous AHCTF1 1 83004 1.20476E-5 41502 0 3.9846E-6
1-247076601-T-C p.Gly172Gly synonymous AHCTF1 1 83144 1.20273E-5 41572 0 8.2428E-6
1-247076606-C-T p.Val171Ile missense AHCTF1 4 83156 4.81024E-5 41578 0 5.03525E-4
1-247076651-G-A p.Pro156Ser missense AHCTF1 1 83200 1.20192E-5 41600 0 NA
1-247076686-T-C p.His144Arg missense AHCTF1 6 83178 7.21345E-5 41589 0 5.03525E-4
1-247076689-T-C p.Asn143Ser missense AHCTF1 2 83170 2.40471E-5 41585 0 NA
1-247076705-T-C p.Ile138Val missense AHCTF1 1 83144 1.20273E-5 41572 0 6.48015E-5
1-247076712-T-C p.Val135Val splice_region+synonymous AHCTF1 1 83090 1.20351E-5 41545 0 NA
1-247079461-C-T p.Val129Ile missense AHCTF1 1 82452 1.21283E-5 41226 0 5.34759E-4
1-247079467-T-C p.Lys127Glu missense AHCTF1 3 82496 3.63654E-5 41248 1 8.35841E-6
1-247079492-A-G p.Tyr118Tyr synonymous AHCTF1 1 82720 1.2089E-5 41360 0 NA
1-247079501-G-A