Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-99129341-A-G p.Phe1248Phe synonymous ANKS1B 1 63916 1.56455E-5 31958 0 1.69687E-5
12-99129362-AGT-A p.Thr1241fs frameshift ANKS1B 2 64092 3.12051E-5 32046 0 3.21642E-5
12-99129367-G-T p.His1240Asn missense ANKS1B 4 64114 6.23889E-5 32057 0 8.33792E-6
12-99129367-GTCTC-G p.Glu1238fs frameshift ANKS1B 1 64114 1.55972E-5 32057 0 8.33792E-6
12-99129379-G-T p.Pro1236Thr missense ANKS1B 1 64164 1.55851E-5 32082 0 6.37267E-5
12-99129380-T-G p.Glu1235Asp missense ANKS1B 1 64160 1.5586E-5 32080 0 4.01965E-6
12-99129382-C-T p.Glu1235Lys missense ANKS1B 3 64146 4.67683E-5 32073 0 3.18532E-5
12-99129388-C-T p.Gly1233Arg missense ANKS1B 2 64116 3.11935E-5 32058 0 3.33762E-5
12-99137992-TGTTCA-T c.*1520_*1524delTGAAC splice_region ANKS1B 2 68908 2.90242E-5 34454 0 9.55231E-5
12-99139128-TA-T c.*388delT splice_region ANKS1B 3 69052 4.34455E-5 34526 0 1.29719E-4
12-99139177-TAAAGAAAAGGTA-T c.*328_*339delTACCTTTTCTTT splice_region ANKS1B 78 66852 0.00116676 33426 0 0.00242151
12-99139177-TAAAGAAAAGG-T c.*330_*339delCCTTTTCTTT splice_region ANKS1B 60 66908 8.96754E-4 33454 0 0.00321476
12-99139177-TAAAGAAAAG-T c.*331_*339delCTTTTCTTT splice_region ANKS1B 40 67014 5.9689E-4 33507 0 7.51503E-4
12-99139177-TAAAGAAAAGGTATTA-T c.*325_*339delTAATACCTTTTCTTT splice_region ANKS1B 7 67046 1.04406E-4 33523 0 5.01002E-4
12-99139177-TA-T c.*337delT splice_region ANKS1B 7 67118 1.04294E-4 33559 0 NA
12-99139178-A-T c.*339T>A splice_region ANKS1B 1 65936 1.51662E-5 32968 0 4.64993E-4
12-99139302-G-C n.316C>G splice_region ANKS1B 1 74406 1.34398E-5 37203 0 NA
12-99139547-A-T p.Ile441Ile synonymous ANKS1B 1 82404 1.21353E-5 41202 0 NA
12-99139551-C-A p.Gly440Val missense ANKS1B 3 82386 3.6414E-5 41193 0 NA
12-99139552-C-T p.Gly440Ser missense ANKS1B 21 82378 2.54922E-4 41189 0 1.91144E-4
12-99139559-G-T p.Ala437Ala synonymous ANKS1B 1518 82390 0.0184246 41195 13 0.024375
12-99139566-T-G p.Gln435Pro missense ANKS1B 1 82392 1.21371E-5 41196 0 NA
12-99139574-C-T p.Glu432Glu synonymous ANKS1B 2 82376 2.42789E-5 41188 0 NA
12-99139579-C-G p.Val431Leu missense ANKS1B 1 82370 1.21403E-5 41185 0 NA
12-99139581-A-G p.Ile430Thr missense ANKS1B 3 82368 3.64219E-5 41184 0 3.18654E-5
12-99139586-C-T p.Pro428Pro synonymous ANKS1B 1 82356 1.21424E-5 41178 0 3.18573E-5
12-99139589-T-A p.Leu427Leu synonymous ANKS1B 1 82354 1.21427E-5 41177 0 3.18552E-5
12-99139620-T-G p.Asp417Ala missense ANKS1B 1 82178 1.21687E-5 41089 0 NA
12-99139622-G-A p.Arg458* stop_gained ANKS1B 1 82140 1.21743E-5 41070 0 1.22528E-5
12-99139623-A-G p.Ile255Thr missense+splice_region ANKS1B 1 82128 1.21761E-5 41064 0 NA
12-99145125-C-T c.3672+8G>A splice_region ANKS1B 75 82584 9.08166E-4 41292 0 0.00124172
12-99145136-G-A p.Ser1223Ser synonymous ANKS1B 2 82668 2.41932E-5 41334 0 3.18492E-5
12-99145153-C-T p.Val1218Ile missense ANKS1B 2 82724 2.41768E-5 41362 0 4.15911E-5
12-99145164-G-A p.Pro1214Leu missense ANKS1B 1 82760 1.20831E-5 41380 0 NA
12-99145178-G-A p.Pro1209Pro synonymous ANKS1B 8 82776 9.66464E-5 41388 0 1.82273E-4
12-99145223-T-C p.Lys1194Lys synonymous ANKS1B 3 82830 3.62188E-5 41415 0 1.6561E-5
12-99145253-G-T p.Val1184Val synonymous ANKS1B 2 82826 2.4147E-5 41413 0 0.00125
12-99145259-G-A p.Phe1182Phe synonymous ANKS1B 2 82828 2.41464E-5 41414 0 6.25E-4
12-99145295-T-C p.Leu1170Leu synonymous ANKS1B 1 82764 1.20825E-5 41382 0 NA
12-99166774-C-A n.280G>T splice_region ANKS1B 1 82406 1.2135E-5 41203 0 4.06223E-6
12-99166820-C-G p.Val1168Val splice_region+synonymous ANKS1B 2 82732 2.41744E-5 41366 0 NA
12-99166845-C-T p.Cys1160Tyr missense ANKS1B 1 82780 1.20802E-5 41390 0 8.32584E-6
12-99166848-T-C p.Tyr1159Cys missense ANKS1B 1 82792 1.20785E-5 41396 0 NA
12-99166879-T-C p.Ile1149Val missense ANKS1B 1 82794 1.20782E-5 41397 0 NA
12-99166908-T-C p.Asp1139Gly missense ANKS1B 1 82736 1.20866E-5 41368 0 NA
12-99166913-G-C p.Ala1137Ala synonymous ANKS1B 2 82716 2.41791E-5 41358 0 4.02615E-6
12-99166921-A-G p.Cys1135Arg missense ANKS1B 2 82682 2.41891E-5 41341 0 NA
12-99166933-G-A p.Arg1131Cys missense ANKS1B 1 82624 1.2103E-5 41312 0 NA
12-99166954-T-C p.Ile1124Val missense ANKS1B 3 82494 3.63663E-5 41247 0 2.07483E-5
12-99166961-G-T c.3367-4C>A splice_region ANKS1B 1 82398 1.21362E-5 41199 0 NA
12-99166964-G-T c.3367-7C>A splice_region ANKS1B 1 82370 1.21403E-5 41185 0 1.85305E-5
12-99174891-T-C c.3366+4A>G splice_region ANKS1B 1 81426 1.22811E-5 40713 0 NA
12-99174919-G-A p.Val1114Val synonymous ANKS1B 12 81712 1.46857E-4 40856 0 3.18634E-5
12-99174931-T-C p.Ser1110Ser synonymous ANKS1B 1 81762 1.22306E-5 40881 0 4.74464E-6
12-99175114-ACACACATCAGATACACACCACG-A p.Cys1092fs frameshift ANKS1B 1 63504 1.5747E-5 31752 0 NA
12-99175133-C-G p.Val1093Val synonymous ANKS1B 1 62136 1.60937E-5 31068 0 NA
12-99175135-C-T p.Val1093Met missense ANKS1B 3 61706 4.86176E-5 30853 0 2.14225E-5
12-99175136-G-A p.Cys1092Cys synonymous ANKS1B 2 61482 3.25298E-5 30741 0 6.40041E-5
12-99175138-A-G p.Cys1092Arg missense+splice_region ANKS1B 284 61290 0.00463371 30645 2 0.0097239
12-99175141-C-T c.3272-1G>A splice_acceptor ANKS1B 3 61184 4.90324E-5 30592 0 NA
12-99175282-A-C c.358-6T>G splice_region ANKS1B 1 49014 2.04023E-5 24507 0 NA
12-99175901-T-C c.369+3A>G splice_region ANKS1B 1 78770 1.26952E-5 39385 0 6.53445E-5
12-99189415-A-G c.844+2T>C splice_donor ANKS1B 749 53142 0.0140943 26571 5 0.0128058
12-99189431-A-G c.838-8T>C splice_region ANKS1B 2 53240 3.75657E-5 26620 0 NA
12-99192714-G-A p.Arg279Trp missense+splice_region ANKS1B 1 81828 1.22208E-5 40914 0 8.1322E-6
12-99192746-G-GC p.Thr1078fs frameshift ANKS1B 1 81834 1.22199E-5 40917 0 NA
12-99192747-T-C p.Thr1078Ala missense ANKS1B 1 81840 1.2219E-5 40920 0 NA
12-99192783-A-G p.Tyr1066His missense+splice_region ANKS1B 1 81186 1.23174E-5 40593 0 NA
12-99194793-C-T c.-31G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 6 82390 7.28244E-5 41195 0 5.03525E-4
12-99194823-C-T p.Gln1049Gln synonymous ANKS1B 1 82478 1.21244E-5 41239 0 NA
12-99194825-G-T p.Gln1049Lys missense ANKS1B 1 82482 1.21239E-5 41241 0 8.98893E-6
12-99194836-A-T p.Val1045Glu missense ANKS1B 1 82438 1.21303E-5 41219 0 NA
12-99194838-C-T p.Pro1044Pro synonymous ANKS1B 7 82442 8.49082E-5 41221 0 6.25E-4
12-99194839-G-A p.Pro1044Leu missense ANKS1B 4 82446 4.85166E-5 41223 0 2.02118E-5
12-99194843-T-C p.Thr1043Ala missense ANKS1B 1 82444 1.21294E-5 41222 0 NA
12-99194849-C-T p.Ala1041Thr missense ANKS1B 2 82442 2.42595E-5 41221 0 3.18654E-5
12-99194854-G-C p.Ala1039Gly missense ANKS1B 1 82430 1.21315E-5 41215 0 NA
12-99194862-C-T p.Pro1036Pro synonymous ANKS1B 8 82394 9.70944E-5 41197 0 1.59378E-4
12-99194909-A-G c.3067-6T>C splice_region ANKS1B 4 81908 4.88353E-5 40954 0 9.29282E-6
12-99201614-A-G c.636+8T>C splice_region ANKS1B 1 81832 1.22202E-5 40916 0 NA
12-99201660-C-T p.Ala200Thr missense ANKS1B 1 82092 1.21815E-5 41046 0 1.61281E-5
12-99201670-C-T p.Thr196Thr synonymous ANKS1B 4 82080 4.87329E-5 41040 0 8.06562E-6
12-99201676-T-C p.Ile194Met missense ANKS1B 2 82078 2.43671E-5 41039 0 NA
12-99222967-C-T p.Glu1017Glu synonymous ANKS1B 2 82622 2.42066E-5 41311 0 9.55231E-5
12-99222994-A-G p.Phe1008Phe synonymous ANKS1B 1 82682 1.20945E-5 41341 0 3.31219E-5
12-99223022-G-C p.Ala999Gly missense ANKS1B 3 82738 3.6259E-5 41369 0 NA
12-99223038-T-C p.Ile994Val missense ANKS1B 7 82768 8.45737E-5 41384 0 1.20372E-5
12-99223048-A-G p.Val990Val synonymous ANKS1B 1 82786 1.20793E-5 41393 0 3.1841E-5
12-99223051-G-A c.-16C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 82792 1.20785E-5 41396 0 1.27356E-4
12-99223101-A-C p.Leu973Val missense ANKS1B 2 82836 2.41441E-5 41418 0 3.1841E-5
12-99223110-G-A p.Pro970Ser missense ANKS1B 3 82810 3.62275E-5 41405 0 3.18471E-5
12-99223113-T-A p.Thr969Ser missense ANKS1B 1 82800 1.20773E-5 41400 0 NA
12-99223129-T-A p.Glu963Asp missense+splice_region ANKS1B 3 82766 3.62468E-5 41383 0 9.55718E-5
12-99225818-T-C p.Ile959Val missense ANKS1B 22 82530 2.6657E-4 41265 0 6.99113E-4
12-99225823-C-T p.Arg957Gln missense ANKS1B 1 82550 1.21139E-5 41275 0 NA
12-99225830-G-A p.Pro955Ser missense ANKS1B 1 82568 1.21112E-5 41284 0 NA
12-99225845-C-T p.Asp950Asn missense ANKS1B 3 82596 3.63214E-5 41298 0 1.34947E-4
12-99225849-G-A c.-139C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 4 82608 4.84215E-5 41304 0 8.86446E-5
12-99225871-G-A p.Ala941Val missense ANKS1B 2 82644 2.42002E-5 41322 0 2.27593E-5
12-99225879-A-G p.Arg938Arg synonymous ANKS1B 1 82644 1.21001E-5 41322 0 6.36821E-5
12-99225921-C-A c.2779-7G>T splice_region ANKS1B 1 82588 1.21083E-5 41294 0 NA
12-99225922-A-G c.2779-8T>C splice_region ANKS1B 2 82580 2.42189E-5 41290 0 7.27484E-5
12-99288410-G-A c.-207C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 57712 1.73274E-5 28856 0 NA
12-99288419-G-A c.-216C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 59880 1.67001E-5 29940 0 NA
12-99288437-G-C c.-234C>G 5_prime_UTR_premature_start_codon_gain ANKS1B 2 62992 3.17501E-5 31496 0 3.20451E-5
12-99288454-G-A c.-251C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 64084 1.56045E-5 32042 0 NA
12-99288481-T-A c.-278A>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 64698 1.54564E-5 32349 0 NA
12-99288541-G-A c.-338C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 2 63218 3.16366E-5 31609 0 NA
12-99288553-G-A c.-350C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 61782 1.61859E-5 30891 0 NA
12-99288567-G-A c.-364C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 59292 1.68657E-5 29646 0 NA
12-99288607-C-A c.-404G>T 5_prime_UTR_premature_start_codon_gain ANKS1B 24 44260 5.4225E-4 22130 0 6.22346E-4
12-99288652-G-A c.-449C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 5359 16974 0.315718 8487 237 0.354189
12-99288956-G-A c.-250C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 12 24146 4.96977E-4 12073 0 7.76046E-4
12-99289002-G-T c.-262+8C>A splice_region ANKS1B 262 24170 0.0108399 12085 1 0.0112298
12-99446928-A-G c.2778+7T>C splice_region ANKS1B 1 82442 1.21297E-5 41221 0 3.1835E-5
12-99446939-A-G p.Ile925Thr missense ANKS1B 1 82558 1.21127E-5 41279 0 4.2905E-5
12-99446967-A-G p.Leu916Leu synonymous ANKS1B 1 82614 1.21045E-5 41307 0 1.24816E-5
12-99446977-C-T p.Ser912Ser synonymous ANKS1B 2504 82586 0.0303199 41293 42 0.0439099
12-99447001-G-T p.Ala904Ala synonymous ANKS1B 1 82718 1.20893E-5 41359 0 1.12699E-5
12-99447007-G-A p.Thr902Thr synonymous ANKS1B 1 82706 1.2091E-5 41353 0 1.11622E-5
12-99447015-C-T p.Asp900Asn missense ANKS1B 2 82726 2.41762E-5 41363 0 7.72473E-5
12-99447016-G-T p.Gly899Gly synonymous ANKS1B 1 82722 1.20887E-5 41361 0 3.18613E-5
12-99447028-G-A p.Ser895Ser synonymous ANKS1B 3 82762 3.62485E-5 41381 0 1.0834E-5
12-99447073-C-T p.Gly880Gly synonymous ANKS1B 1 82710 1.20904E-5 41355 0 3.81592E-5
12-99447079-G-A p.Pro878Pro synonymous ANKS1B 1 82660 1.20978E-5 41330 0 NA
12-99447087-T-A p.Met876Leu missense+splice_region ANKS1B 3 82602 3.63187E-5 41301 0 1.46088E-5
12-99447090-G-GA c.2626-4_2626-3insT splice_region ANKS1B 1 82452 1.21283E-5 41226 0 NA
12-99478695-T-C c.2625+8A>G splice_region ANKS1B 1 82110 1.21788E-5 41055 0 4.27022E-6
12-99478697-G-T c.2625+6C>A splice_region ANKS1B 1 82118 1.21776E-5 41059 0 NA
12-99478699-T-C c.2625+4A>G splice_region ANKS1B 5 82140 6.08717E-5 41070 0 1.90437E-4
12-99478713-A-T p.Leu872His missense ANKS1B 1 82160 1.21714E-5 41080 0 NA
12-99478730-A-C p.Ile866Met missense ANKS1B 3 82184 3.65035E-5 41092 0 5.87889E-5
12-99478748-A-G p.Ser860Ser synonymous ANKS1B 1 82126 1.21764E-5 41063 0 1.15564E-5
12-99478752-T-C p.Asn859Ser missense ANKS1B 1 82126 1.21764E-5 41063 0 4.09011E-6
12-99478760-T-C p.Gly856Gly synonymous ANKS1B 1 82100 1.21803E-5 41050 0 NA
12-99478794-T-G p.Asn845Thr missense ANKS1B 3 82038 3.65684E-5 41019 0 1.41455E-5
12-99478799-T-TC p.Ser844fs frameshift ANKS1B 1 81968 1.21999E-5 40984 0 NA
12-99478803-T-A c.2527-2A>T splice_acceptor ANKS1B 2 81932 2.44105E-5 40966 0 NA
12-99548080-T-C p.Asn838Ser missense ANKS1B 1 81454 1.22769E-5 40727 0 8.05393E-6
12-99548098-A-C p.Met1? start_lost ANKS1B 14 81602 1.71564E-4 40801 0 8.30634E-6
12-99548112-G-A c.-13C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 81650 1.22474E-5 40825 0 2.01193E-5
12-99548115-C-T p.Gln826Gln synonymous ANKS1B 27 81692 3.3051E-4 40846 0 1.59256E-4
12-99548124-C-T p.Gly823Gly synonymous ANKS1B 78 81720 9.54479E-4 40860 1 0.0022293
12-99548131-C-T p.Ser821Asn missense ANKS1B 1 81782 1.22276E-5 40891 0 3.1839E-5
12-99548151-T-A c.-52A>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 81898 1.22103E-5 40949 0 1.60876E-5
12-99548163-G-A p.Cys810Cys synonymous ANKS1B 2 81996 2.43914E-5 40998 0 1.66011E-5
12-99548167-C-T p.Arg809Lys missense ANKS1B 1 82024 1.21916E-5 41012 0 4.02146E-6
12-99548176-G-A p.Thr32Ile missense ANKS1B 4 82078 4.87341E-5 41039 0 1.20626E-5
12-99548216-C-T p.Gly19Ser missense ANKS1B 15 82168 1.82553E-4 41084 0 1.32671E-4
12-99548217-G-A p.Asp18Asp synonymous ANKS1B 5 82162 6.08554E-5 41081 0 9.5511E-5
12-99548222-C-T p.Val17Met missense ANKS1B 1 82168 1.21702E-5 41084 0 8.30965E-6
12-99548223-G-A p.Pro16Pro synonymous ANKS1B 9 82160 1.09542E-4 41080 0 1.59266E-4
12-99548232-G-A p.Arg13Arg synonymous ANKS1B 50 82112 6.08924E-4 41056 1 0.00162379
12-99548246-C-A p.Ala9Ser missense ANKS1B 1 81962 1.22008E-5 40981 0 NA
12-99548261-G-C p.Gln4Glu missense ANKS1B 1 81582 1.22576E-5 40791 0 4.04629E-6
12-99548330-G-A c.-60C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 2 78936 2.5337E-5 39468 0 NA
12-99548356-T-A c.-86A>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 77002 1.29867E-5 38501 0 NA
12-99548380-T-C c.-110A>G 5_prime_UTR_premature_start_codon_gain ANKS1B 1 73510 1.36036E-5 36755 0 NA
12-99548388-G-C c.-118C>G 5_prime_UTR_premature_start_codon_gain ANKS1B 2 72268 2.76748E-5 36134 0 NA
12-99548401-C-T c.-131G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 2 69496 2.87786E-5 34748 0 NA
12-99548429-G-A c.-159C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 57212 1.74789E-5 28606 0 NA
12-99548438-G-A c.-168C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 3 52790 5.68289E-5 26395 0 NA
12-99548505-G-A c.-235C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 14 39622 3.53339E-4 19811 0 1.91156E-4
12-99548579-C-T c.-75+7G>A splice_region ANKS1B 1 35290 2.83366E-5 17645 0 NA
12-99548587-C-T c.-76G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 3 35524 8.445E-5 17762 0 NA
12-99548622-C-A c.-111G>T 5_prime_UTR_premature_start_codon_gain ANKS1B 21 36100 5.81717E-4 18050 0 2.23001E-4
12-99548743-C-T c.4+5G>A splice_region ANKS1B 1 34326 2.91324E-5 17163 0 NA
12-99548745-C-T c.4+3G>A splice_region ANKS1B 2 34286 5.83328E-5 17143 0 NA
12-99548748-C-T p.Gly2Arg missense+splice_region ANKS1B 2 34266 5.83669E-5 17133 0 9.55597E-5
12-99548758-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 5 34164 1.46353E-4 17082 0 8.36431E-4
12-99548762-A-G c.-11T>C 5_prime_UTR_premature_start_codon_gain ANKS1B 2 34138 5.85857E-5 17069 0 9.29368E-5
12-99548864-G-A c.-113C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 33742 2.96367E-5 16871 0 6.37024E-5
12-99638120-T-C p.Arg807Gly missense+splice_region ANKS1B 18 81894 2.19796E-4 40947 1 0.00100705
12-99638124-G-C c.1147+8C>G splice_region ANKS1B 16 81904 1.95351E-4 40952 0 3.18573E-5
12-99638130-A-G c.1147+2T>C splice_donor ANKS1B 1 81894 1.22109E-5 40947 0 8.84752E-6
12-99638137-A-G p.Met801Thr missense ANKS1B 1 81930 1.22055E-5 40965 0 8.83939E-6
12-99638150-CGTT-C p.Asn796del conservative_inframe_deletion ANKS1B 2 81922 2.44135E-5 40961 0 NA
12-99638151-G-A p.Asn796Asn synonymous ANKS1B 4 81912 4.88329E-5 40956 0 4.97385E-5
12-99638164-A-G p.Val792Ala missense ANKS1B 11 81904 1.34304E-4 40952 0 4.13986E-4
12-99638166-A-C p.Asp791Glu missense ANKS1B 1 81898 1.22103E-5 40949 0 NA
12-99638168-C-G p.Asp791His missense ANKS1B 1 81890 1.22115E-5 40945 0 NA
12-99640054-T-G p.Glu782Ala missense+splice_region ANKS1B 1 82470 1.21256E-5 41235 0 NA
12-99640065-C-T p.Ser778Ser synonymous ANKS1B 2 82504 2.42412E-5 41252 0 4.37995E-5
12-99640068-T-C p.Thr777Thr synonymous ANKS1B 2 82512 2.42389E-5 41256 0 NA
12-99640071-G-C p.Phe776Leu missense ANKS1B 1 82500 1.21212E-5 41250 0 NA
12-99640095-C-T p.Gly768Gly synonymous ANKS1B 1 82538 1.21156E-5 41269 0 NA
12-99640096-C-G p.Gly768Ala missense ANKS1B 21 82522 2.54478E-4 41261 0 5.03525E-4
12-99640104-A-G p.Ser765Ser synonymous ANKS1B 2 82542 2.42301E-5 41271 0 3.70514E-5
12-99640106-T-C p.Ser765Gly missense ANKS1B 67 82534 8.11787E-4 41267 0 7.6438E-4
12-99640121-A-G p.Ser760Pro missense ANKS1B 1 82550 1.21139E-5 41275 0 NA
12-99640133-A-C p.Trp756Gly missense ANKS1B 1 82572 1.21106E-5 41286 0 NA
12-99640141-C-G p.Arg753Thr missense ANKS1B 11 82564 1.3323E-4 41282 0 7.96432E-4
12-99640143-T-C n.579A>G splice_region ANKS1B 2 82560 2.42248E-5 41280 0 NA
12-99640157-T-C p.Asn748Asp missense ANKS1B 70 82562 8.47848E-4 41281 1 0.0075
12-99640159-G-C p.Ser747Cys missense ANKS1B 2843 82468 0.034474 41234 72 0.03875
12-99640165-T-C p.Tyr745Cys missense ANKS1B 2 82566 2.4223E-5 41283 0 3.18593E-5
12-99640169-C-T p.Ala744Thr missense ANKS1B 1 82574 1.21103E-5 41287 0 NA
12-99640201-T-C p.Lys733Arg missense ANKS1B 1 82628 1.21024E-5 41314 0 1.65939E-5
12-99640206-C-A p.Leu731Phe missense ANKS1B 2 82626 2.42055E-5 41313 0 3.31835E-5
12-99640213-A-G p.Met729Thr missense ANKS1B 2 82664 2.41943E-5 41332 0 2.00861E-5
12-99640216-T-A p.Asp728Val missense ANKS1B 2 82652 2.41978E-5 41326 0 3.18471E-5
12-99640223-A-G p.Leu726Leu synonymous ANKS1B 3 82682 3.62836E-5 41341 0 3.18573E-5
12-99640242-T-G p.Ile719Ile synonymous ANKS1B 1 82740 1.20861E-5 41370 0 NA
12-99640242-T-C p.Ile719Met missense ANKS1B 1 82740 1.20861E-5 41370 0 NA
12-99640258-C-T p.Cys714Tyr missense ANKS1B 1 82772 1.20814E-5 41386 0 NA
12-99640262-C-A p.Ala713Ser missense ANKS1B 1 82780 1.20802E-5 41390 0 NA
12-99640266-C-T p.Glu711Glu synonymous ANKS1B 2 82790 2.41575E-5 41395 0 NA
12-99640266-C-A p.Glu711Asp missense ANKS1B 1 82790 1.20788E-5 41395 0 NA
12-99640268-C-T p.Glu711Lys missense ANKS1B 19 82792 2.29491E-4 41396 0 1.56678E-4
12-99640270-A-C p.Val710Gly missense ANKS1B 4 82790 4.8315E-5 41395 0 4.01703E-5
12-99640271-C-G p.Val710Leu missense ANKS1B 1 82796 1.20779E-5 41398 0 4.01787E-6
12-99640281-T-G p.Ala706Ala synonymous ANKS1B 1 82814 1.20753E-5 41407 0 7.2288E-5
12-99640283-C-T p.Ala706Thr missense ANKS1B 1 82818 1.20747E-5 41409 0 5.03525E-4
12-99640284-G-A p.Asn705Asn synonymous ANKS1B 6 82816 7.24498E-5 41408 0 2.48843E-5
12-99640309-C-T p.Arg697Gln missense ANKS1B 3 82824 3.62214E-5 41412 0 1.20483E-5
12-99640310-G-A p.Arg697Trp missense ANKS1B 2 82822 2.41482E-5 41411 0 NA
12-99640318-C-G p.Ser694Thr missense ANKS1B 1 82842 1.20712E-5 41421 0 8.032E-6
12-99640329-T-C p.Arg690Arg synonymous ANKS1B 67 82838 8.08808E-4 41419 0 0.00181482
12-99640336-CCAACAATGGTATGGTTTT-C p.Glu682_Val687del disruptive_inframe_deletion ANKS1B 1 82842 1.20712E-5 41421 0 NA
12-99640341-A-G p.Ile686Ile synonymous ANKS1B 1 82836 1.2072E-5 41418 0 3.35362E-5
12-99640348-T-C p.His684Arg missense ANKS1B 1 82842 1.20712E-5 41421 0 4.02217E-6
12-99640348-T-A p.His684Leu missense ANKS1B 2 82842 2.41423E-5 41421 0 NA
12-99640355-C-T p.Glu682Lys missense ANKS1B 2 82832 2.41453E-5 41416 0 1.09786E-4
12-99640356-G-A p.Leu681Leu synonymous ANKS1B 108 82834 0.00130381 41417 0 0.00138308
12-99640367-T-C p.Ser678Gly missense ANKS1B 1 82838 1.20718E-5 41419 0 NA
12-99640368-T-C p.Lys677Lys synonymous ANKS1B 1 82838 1.20718E-5 41419 0 NA
12-99640376-G-A p.His675Tyr missense ANKS1B 1 82832 1.20726E-5 41416 0 NA
12-99640390-C-T p.Ser670Asn missense ANKS1B 1 82824 1.20738E-5 41412 0 1.70442E-5
12-99640404-T-C p.Lys665Lys synonymous ANKS1B 1 82812 1.20755E-5 41406 0 4.03574E-6
12-99640415-T-C p.Lys662Glu missense ANKS1B 1 82804 1.20767E-5 41402 0 3.18471E-5
12-99640421-A-C p.Leu660Val missense ANKS1B 28 82784 3.3823E-4 41392 2 5.03525E-4
12-99640428-T-C p.Ser657Ser synonymous ANKS1B 34259 82290 0.41632 41145 7395 0.520625
12-99640439-C-T p.Glu654Lys missense ANKS1B 1 82752 1.20843E-5 41376 0 NA
12-99640441-A-G p.Ile653Thr missense ANKS1B 1 82736 1.20866E-5 41368 0 8.31145E-6
12-99640442-T-C p.Ile653Val missense ANKS1B 1 82738 1.20863E-5 41369 0 2.49323E-5
12-99640443-T-C p.Pro652Pro synonymous ANKS1B 7 82734 8.46085E-5 41367 0 6.25E-4
12-99640445-G-T p.Pro652Thr missense ANKS1B 9 82728 1.0879E-4 41364 0 0.00151057
12-99640465-G-A p.Pro645Leu missense ANKS1B 3 82628 3.63073E-5 41314 0 7.63347E-5
12-99640469-T-C p.Ser644Gly missense ANKS1B 2 82610 2.42101E-5 41305 0 6.36983E-5
12-99640470-G-A p.Asn643Asn synonymous ANKS1B 1 82602 1.21062E-5 41301 0 NA
12-99640473-T-A p.Ala642Ala synonymous ANKS1B 1 82596 1.21071E-5 41298 0 NA
12-99640475-C-T p.Ala642Thr missense ANKS1B 2 82578 2.42195E-5 41289 0 0.00100705
12-99640497-T-C p.Lys634Lys synonymous ANKS1B 4 82534 4.84649E-5 41267 0 3.18431E-5
12-99640499-T-C p.Lys634Glu missense ANKS1B 3 82536 3.63478E-5 41268 0 3.18431E-5
12-99640504-C-T p.Cys632Tyr missense ANKS1B 1 82518 1.21186E-5 41259 0 0.001875
12-99640521-A-G p.Tyr626Tyr synonymous ANKS1B 1 82494 1.21221E-5 41247 0 2.00897E-5
12-99640522-T-C p.Tyr626Cys missense ANKS1B 1 82494 1.21221E-5 41247 0 1.65961E-5
12-99640527-A-G p.His624His synonymous ANKS1B 3 82476 3.63742E-5 41238 0 3.18512E-5
12-99640534-G-A p.Pro622Leu missense ANKS1B 3 82460 3.63813E-5 41230 0 8.03871E-6
12-99640557-T-C p.Pro614Pro synonymous ANKS1B 48296 78696 0.613703 39348 15092 0.736875
12-99640557-TG-CA p.Pro614Leu missense ANKS1B 3 82318 3.6444E-5 41159 0 NA
12-99640558-G-A p.Pro614Leu missense ANKS1B 1 82306 1.21498E-5 41153 0 7.51892E-5
12-99640579-C-A p.Gly607Val missense ANKS1B 1 82076 1.21838E-5 41038 0 NA
12-99640582-G-A p.Ala606Val missense ANKS1B 1 82040 1.21892E-5 41020 0 3.39374E-5
12-99640590-CC-AA p.Gly603Val missense ANKS1B 1 81904 1.22094E-5 40952 0 NA
12-99640592-C-T p.Gly603Arg missense ANKS1B 1 81898 1.22103E-5 40949 0 4.10391E-6
12-99640595-G-T p.Pro602Thr missense ANKS1B 2 81808 2.44475E-5 40904 0 1.65124E-5
12-99640601-A-G p.Tyr600His missense ANKS1B 1 81654 1.22468E-5 40827 0 3.18471E-5
12-99640605-T-C p.Lys598Lys synonymous ANKS1B 4 81468 4.9099E-5 40734 0 5.03723E-5
12-99640608-T-TG p.Glu599fs frameshift ANKS1B 2 81328 2.45918E-5 40664 1 NA
12-99640609-G-C p.Pro597Arg missense ANKS1B 1 81270 1.23047E-5 40635 0 1.26437E-5
12-99640639-T-A p.Asp587Val missense ANKS1B 1 80072 1.24888E-5 40036 0 NA
12-99793432-T-C p.Lys578Arg missense ANKS1B 3 82334 3.6437E-5 41167 1 NA
12-99793458-G-A p.Thr569Thr synonymous ANKS1B 8 82422 9.70615E-5 41211 0 0.0020141
12-99793465-G-A p.Pro567Leu missense ANKS1B 1 82418 1.21333E-5 41209 0 4.01564E-6
12-99793476-A-T p.Pro563Pro synonymous ANKS1B 1 82424 1.21324E-5 41212 0 NA
12-99793476-A-C p.Pro563Pro synonymous ANKS1B 3 82424 3.63972E-5 41212 0 NA
12-99793478-G-C p.Pro563Ala missense ANKS1B 1 82422 1.21327E-5 41211 0 3.31625E-5
12-99793488-A-G p.Phe559Phe synonymous ANKS1B 3 82436 3.63919E-5 41218 0 4.01523E-6
12-99793490-A-G p.Phe559Leu missense ANKS1B 1 82430 1.21315E-5 41215 0 NA
12-99793513-T-C p.Asn551Ser missense ANKS1B 1 82394 1.21368E-5 41197 0 2.4867E-5
12-99793526-A-ATTC p.Glu546dup conservative_inframe_insertion ANKS1B 2 82358 2.42842E-5 41179 0 NA
12-99793546-C-A p.Arg540Leu missense ANKS1B 1 82280 1.21536E-5 41140 0 NA
12-99793561-G-A p.Ser535Phe missense ANKS1B 1 82210 1.2164E-5 41105 0 NA
12-99793568-C-T p.Val533Met missense ANKS1B 4 82152 4.86902E-5 41076 0 5.22357E-5
12-99793580-G-T p.Arg529Arg synonymous ANKS1B 1 82070 1.21847E-5 41035 0 9.56816E-5
12-99837448-T-C c.1575+3A>G splice_region ANKS1B 1 82158 1.21717E-5 41079 0 NA
12-99837454-G-T p.Pro524Pro synonymous ANKS1B 1 82188 1.21672E-5 41094 0 NA
12-99837465-C-T p.Val521Ile missense ANKS1B 1 82252 1.21578E-5 41126 0 NA
12-99837487-A-C p.Thr513Thr synonymous ANKS1B 1 82308 1.21495E-5 41154 0 1.20804E-5
12-99837496-G-A p.Ser510Ser synonymous ANKS1B 3 82316 3.64449E-5 41158 0 6.37267E-5
12-99837520-T-C p.Pro502Pro synonymous ANKS1B 1 82312 1.21489E-5 41156 0 NA
12-99837532-G-A p.Ser498Ser synonymous ANKS1B 6 82288 7.29146E-5 41144 0 6.37471E-5
12-99837535-G-A p.Asn497Asn synonymous ANKS1B 1 82276 1.21542E-5 41138 0 NA
12-99837544-G-A p.Asn494Asn synonymous ANKS1B 3 82260 3.64697E-5 41130 0 6.37511E-5
12-99837549-T-C p.Ser493Gly missense ANKS1B 1 82256 1.21572E-5 41128 0 NA
12-99837556-T-C p.Pro490Pro synonymous ANKS1B 14 82232 1.7025E-4 41116 1 NA
12-99837557-G-A p.Pro490Leu missense ANKS1B 2 82232 2.43214E-5 41116 0 8.30813E-6
12-99837570-C-T p.Ala486Thr missense ANKS1B 1098 82080 0.0133772 41040 11 0.0161128
12-99837587-T-C p.Asp480Gly missense+splice_region ANKS1B 12 81956 1.4642E-4 40978 0 5.82586E-5
12-99837595-T-C c.1439-8A>G splice_region ANKS1B 11 81830 1.34425E-4 40915 1 3.18918E-5
12-99898256-G-C p.Thr479Ser missense+splice_region ANKS1B 2 82060 2.43724E-5 41030 0 2.49626E-5
12-99898266-A-G p.Ser476Pro missense ANKS1B 1 82108 1.21791E-5 41054 0 8.32127E-6
12-99898274-C-T p.Arg473Lys missense ANKS1B 4 82122 4.8708E-5 41061 0 3.18552E-5
12-99898303-T-C p.Thr463Thr synonymous ANKS1B 12 82080 1.46199E-4 41040 0 5.03525E-4
12-99898313-G-A p.Thr460Ile missense ANKS1B 2 82022 2.43837E-5 41011 0 4.03304E-6
12-99898318-C-A p.Met458Ile missense ANKS1B 1 81976 1.21987E-5 40988 0 3.18735E-5
12-99898333-A-G p.Phe453Phe synonymous ANKS1B 1 81902 1.22097E-5 40951 0 4.03509E-6
12-99898343-T-C p.Asn450Ser missense ANKS1B 1 81828 1.22208E-5 40914 0 NA
12-99898375-T-A p.Pro439Pro synonymous ANKS1B 1 81406 1.22841E-5 40703 0 NA
12-99898391-G-C p.Thr434Ser missense ANKS1B 19 81070 2.34365E-4 40535 0 0.00100908
12-99898392-T-C p.Thr434Ala missense ANKS1B 1 81054 1.23375E-5 40527 0 NA
12-99898393-G-A p.Tyr433Tyr synonymous ANKS1B 1 81014 1.23435E-5 40507 0 4.35612E-6
12-99898397-T-C p.Asn432Ser missense ANKS1B 3 80912 3.70773E-5 40456 0 0.001875
12-99898410-G-T p.Pro428Thr missense ANKS1B 1 80432 1.24329E-5 40216 0 4.84651E-6
12-99898417-C-T p.Glu425Glu splice_region+synonymous ANKS1B 2 80086 2.49732E-5 40043 0 9.17768E-5
12-99898418-T-C p.Glu425Gly missense+splice_region ANKS1B 1 79936 1.251E-5 39968 0 5.61728E-6
12-100048837-A-G c.1272+8T>C splice_region ANKS1B 1 80628 1.24026E-5 40314 0 2.50702E-5
12-100048839-T-A c.1272+6A>T splice_region ANKS1B 8841 80582 0.109714 40291 733 0.164551
12-100048854-C-T p.Met1? start_lost ANKS1B 1 81238 1.23095E-5 40619 0 3.18512E-5
12-100048878-T-A c.-22A>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 82440 1.213E-5 41220 0 3.18471E-5
12-100048887-C-T c.-31G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 3 82564 3.63354E-5 41282 0 9.15416E-5
12-100048905-A-C c.-49T>G 5_prime_UTR_premature_start_codon_gain ANKS1B 1 82648 1.20995E-5 41324 0 NA
12-100048922-A-G p.Cys399Arg missense ANKS1B 1 82640 1.21007E-5 41320 0 NA
12-100048923-C-T c.-67G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 7 82622 8.47232E-5 41311 0 1.02136E-4
12-100048923-C-G c.-67G>C 5_prime_UTR_premature_start_codon_gain ANKS1B 2 82624 2.4206E-5 41312 0 4.25568E-5
12-100048924-G-A p.Thr398Met missense ANKS1B 7 82620 8.47252E-5 41310 0 4.26207E-5
12-100048926-A-G p.Asn397Asn synonymous ANKS1B 1 82610 1.21051E-5 41305 0 NA
12-100048928-T-C p.Asn397Asp missense ANKS1B 2 82614 2.4209E-5 41307 0 2.01062E-5
12-100048945-T-A p.Glu391Val missense ANKS1B 1 82530 1.21168E-5 41265 0 NA
12-100048951-A-G p.Val389Ala missense ANKS1B 345 82496 0.00418202 41248 13 0.00994832
12-100048965-C-T p.Leu384Leu synonymous ANKS1B 2 82380 2.42777E-5 41190 0 6.36902E-5
12-100048969-T-C p.Asn383Ser missense ANKS1B 3 82360 3.64254E-5 41180 0 3.18431E-5
12-100048975-G-T p.Thr381Lys missense ANKS1B 1 82320 1.21477E-5 41160 0 NA
12-100048977-A-G p.Ser380Ser synonymous ANKS1B 2 82310 2.42984E-5 41155 0 1.06849E-5
12-100048980-T-C p.Ser379Ser synonymous ANKS1B 1 82308 1.21495E-5 41154 0 NA
12-100166489-G-A n.474C>T splice_region ANKS1B 1 49082 2.03741E-5 24541 0 3.18573E-5
12-100166700-T-G p.Val376Val splice_region+synonymous ANKS1B 2 82688 2.41873E-5 41344 0 NA
12-100166744-T-C p.Lys362Glu missense ANKS1B 1 82706 1.2091E-5 41353 0 3.18512E-5
12-100166772-T-C p.Ile352Met missense ANKS1B 1 82690 1.20934E-5 41345 0 NA
12-100166786-A-G p.Leu348Leu synonymous ANKS1B 1 82654 1.20986E-5 41327 0 NA
12-100166786-A-C p.Leu348Val missense ANKS1B 7 82654 8.46904E-5 41327 0 6.64066E-5
12-100166796-C-T p.Ser344Ser synonymous ANKS1B 6 82584 7.26533E-5 41292 0 8.30275E-5
12-100166819-G-T p.Leu337Ile missense ANKS1B 1 82508 1.212E-5 41254 0 NA
12-100166843-A-C p.Ser329Ala missense ANKS1B 2 82312 2.42978E-5 41156 0 4.09991E-6
12-100166858-C-T p.Val324Ile missense ANKS1B 7 82080 8.52826E-5 41040 0 6.28141E-4
12-100166858-C-G p.Val324Leu missense ANKS1B 5 82080 6.09162E-5 41040 0 9.56023E-5
12-100166859-G-A p.Thr323Thr synonymous ANKS1B 1 82090 1.21818E-5 41045 0 1.2648E-5
12-100166859-G-T p.Thr323Thr synonymous ANKS1B 1 82090 1.21818E-5 41045 0 8.43199E-6
12-100166860-G-T p.Thr323Asn missense ANKS1B 1 82062 1.21859E-5 41031 0 NA
12-100166861-T-A p.Thr323Ser missense ANKS1B 14 82094 1.70536E-4 41047 0 0.00440252
12-100166870-T-C c.962-4A>G splice_region ANKS1B 1 81916 1.22076E-5 40958 0 NA
12-100166871-G-C c.962-5C>G splice_region ANKS1B 1 81876 1.22136E-5 40938 0 8.76432E-6
12-100169318-G-T c.961+8C>A splice_region ANKS1B 1 82142 1.2174E-5 41071 0 NA
12-100169324-A-G c.961+2T>C splice_donor ANKS1B 4 82282 4.86133E-5 41141 0 NA
12-100169359-A-G p.Ser310Pro missense ANKS1B 2 82532 2.4233E-5 41266 0 4.01474E-6
12-100169380-T-C p.Thr303Ala missense ANKS1B 1 82562 1.21121E-5 41281 0 3.18552E-5
12-100169383-C-G p.Ala302Pro missense ANKS1B 1 82562 1.21121E-5 41281 0 4.01439E-6
12-100169396-A-G p.Pro297Pro synonymous ANKS1B 7 82536 8.48115E-5 41268 0 2.93187E-4
12-100169399-C-T p.Glu296Glu synonymous ANKS1B 2 82522 2.4236E-5 41261 0 NA
12-100169404-C-T p.Glu295Lys missense ANKS1B 2 82476 2.42495E-5 41238 0 0.00100705
12-100169405-G-A p.Leu294Leu synonymous ANKS1B 2 82478 2.42489E-5 41239 0 4.01494E-5
12-100169415-G-T p.Ser291Tyr missense ANKS1B 1 82454 1.2128E-5 41227 0 1.67218E-5
12-100169425-C-T p.Val288Met missense ANKS1B 355 82254 0.0043159 41127 5 0.00879317
12-100169444-G-T c.848-5C>A splice_region ANKS1B 1 81196 1.23159E-5 40598 0 NA
12-100173641-C-T c.847+8G>A splice_region ANKS1B 1 81422 1.22817E-5 40711 0 8.28803E-6
12-100173642-T-C c.847+7A>G splice_region ANKS1B 1 81494 1.22708E-5 40747 0 3.18471E-5
12-100173644-T-G c.847+5A>C splice_region ANKS1B 1 81548 1.22627E-5 40774 0 NA
12-100173668-C-T p.Gln276Gln synonymous ANKS1B 1 81804 1.22243E-5 40902 0 4.01936E-6
12-100173677-T-C p.Lys273Lys synonymous ANKS1B 2 81854 2.44337E-5 40927 0 2.54891E-4
12-100173695-T-C p.Lys267Lys synonymous ANKS1B 4 81846 4.88723E-5 40923 0 NA
12-100173709-A-G p.Leu263Leu synonymous ANKS1B 1 81826 1.22211E-5 40913 0 8.12724E-6
12-100173730-C-G p.Asp256His missense ANKS1B 1 81670 1.22444E-5 40835 0 NA
12-100175803-T-C p.Thr248Ala missense ANKS1B 2 82360 2.42836E-5 41180 0 NA
12-100175804-T-C p.Glu247Glu synonymous ANKS1B 1 82354 1.21427E-5 41177 0 1.74465E-5
12-100175810-C-A p.Leu245Leu synonymous ANKS1B 1 82390 1.21374E-5 41195 0 3.24992E-5
12-100175818-G-A p.Arg243* stop_gained ANKS1B 1 82404 1.21353E-5 41202 0 1.5501E-5
12-100175872-C-G p.Glu225Gln missense ANKS1B 1 82214 1.21634E-5 41107 0 NA
12-100175879-GA-G c.670-5delT splice_region ANKS1B 11 81538 1.34906E-4 40769 0 0.0592908
12-100175879-G-GA c.670-5_670-4insT splice_region ANKS1B 86 80816 0.00106415 40408 0 0.0206367
12-100200172-GCA-G c.669+8_669+9delTG splice_region ANKS1B 1 81810 1.22234E-5 40905 0 NA
12-100200204-G-A p.Ala216Val missense ANKS1B 1 82178 1.21687E-5 41089 0 NA
12-100200206-C-G p.Glu215Asp missense ANKS1B 1 82196 1.2166E-5 41098 0 NA
12-100200225-A-T p.Val209Asp missense ANKS1B 1 82274 1.21545E-5 41137 0 NA
12-100200229-C-T p.Ala208Thr missense ANKS1B 1 82340 1.21448E-5 41170 0 NA
12-100200231-T-C p.Lys207Arg missense ANKS1B 3 82324 3.64414E-5 41162 0 4.0179E-6
12-100200233-G-A p.His206His synonymous ANKS1B 2 82336 2.42907E-5 41168 0 3.1841E-5
12-100200245-C-T p.Ala202Ala synonymous ANKS1B 1 82400 1.21359E-5 41200 0 3.31598E-5
12-100200263-C-T p.Thr196Thr synonymous ANKS1B 6 82470 7.27537E-5 41235 0 0.00100705
12-100200273-C-T p.Arg193His missense ANKS1B 1 82518 1.21186E-5 41259 0 4.82013E-5
12-100200273-C-A p.Arg193Leu missense ANKS1B 1 82518 1.21186E-5 41259 0 3.18634E-5
12-100200274-G-A p.Arg193Cys missense ANKS1B 1 82520 1.21183E-5 41260 0 3.18573E-5
12-100200302-T-G p.Ala183Ala synonymous ANKS1B 1 82662 1.20975E-5 41331 0 NA
12-100200338-G-A p.Tyr171Tyr synonymous ANKS1B 1 82722 1.20887E-5 41361 0 5.62109E-5
12-100200380-T-C p.Arg157Arg synonymous ANKS1B 319 82696 0.0038575 41348 6 0.00818628
12-100200388-T-C p.Thr155Ala missense ANKS1B 1 82676 1.20954E-5 41338 0 2.81088E-5
12-100200389-C-T p.Pro154Pro synonymous ANKS1B 3 82676 3.62862E-5 41338 0 3.61434E-5
12-100200398-G-A p.Leu151Leu synonymous ANKS1B 1 82648 1.20995E-5 41324 0 4.01529E-6
12-100200405-T-C p.Glu149Gly missense ANKS1B 1 82634 1.21016E-5 41317 0 4.14525E-5
12-100200407-T-C p.Leu148Leu synonymous ANKS1B 1 82630 1.21021E-5 41315 0 3.18451E-5
12-100200440-T-C p.Gln137Gln synonymous ANKS1B 3 82370 3.6421E-5 41185 0 1.20535E-5
12-100200446-T-G p.Ala135Ala synonymous ANKS1B 3 82342 3.64334E-5 41171 0 3.18431E-5
12-100200451-A-G p.Cys134Arg missense ANKS1B 1 82316 1.21483E-5 41158 0 NA
12-100200461-A-T p.Thr130Thr synonymous ANKS1B 1 82148 1.21732E-5 41074 0 NA
12-100200474-T-C p.Asn126Ser missense ANKS1B 84 82046 0.00102382 41023 0 0.00160534
12-100200483-G-A c.373-5C>T splice_region ANKS1B 1 81874 1.22139E-5 40937 0 NA
12-100205940-T-C p.Asn122Ser missense ANKS1B 1 82252 1.21578E-5 41126 0 NA
12-100205947-T-C p.Arg120Gly missense ANKS1B 5 82324 6.07356E-5 41162 0 4.1607E-5
12-100205956-A-G p.Ser117Pro missense ANKS1B 1 82356 1.21424E-5 41178 0 NA
12-100205963-A-C p.His114Gln missense ANKS1B 1 82390 1.21374E-5 41195 0 NA
12-100205977-T-C p.Ile110Val missense ANKS1B 1 82388 1.21377E-5 41194 0 NA
12-100206020-A-G p.Pro95Pro synonymous ANKS1B 3 82154 3.65168E-5 41077 0 4.0256E-6
12-100206029-C-A p.Gly92Gly synonymous ANKS1B 157 82064 0.00191314 41032 3 0.00322436
12-100206031-C-T p.Gly92Arg missense ANKS1B 1 82042 1.21889E-5 41021 0 NA
12-100206059-C-T p.Glu82Glu synonymous ANKS1B 2 81448 2.45555E-5 40724 0 NA
12-100206079-G-A p.Leu76Phe missense ANKS1B 2 80860 2.47341E-5 40430 0 4.05196E-6
12-100219101-G-T p.Ala67Ala synonymous ANKS1B 25 82384 3.03457E-4 41192 0 3.50229E-4
12-100219102-G-T p.Ala67Asp missense ANKS1B 1 82382 1.21386E-5 41191 0 NA
12-100219107-G-A p.His65His synonymous ANKS1B 18 82384 2.18489E-4 41192 1 6.8773E-4
12-100219122-G-A p.Tyr60Tyr synonymous ANKS1B 2 82372 2.42801E-5 41186 0 1.98161E-5
12-100219128-C-T p.Ser58Ser synonymous ANKS1B 1 82334 1.21457E-5 41167 0 1.10444E-4
12-100219129-G-A p.Ser58Leu missense ANKS1B 1 82336 1.21454E-5 41168 0 2.02606E-5
12-100219132-C-G p.Ser57Thr missense ANKS1B 1 82342 1.21445E-5 41171 0 NA
12-100219150-T-C p.Asn51Ser missense ANKS1B 1 82244 1.21589E-5 41122 0 5.03525E-4
12-100377876-C-T c.134+6G>A splice_region ANKS1B 1 81396 1.22856E-5 40698 0 4.06138E-6
12-100377902-C-A p.Leu38Leu synonymous ANKS1B 1 81804 1.22243E-5 40902 0 8.05211E-6
12-100377905-G-A p.Pro37Pro synonymous ANKS1B 5 81946 6.10158E-5 40973 0 6.25E-4
12-100377914-T-C p.Gly34Gly synonymous ANKS1B 2 82098 2.43611E-5 41049 0 6.37552E-5
12-100377914-T-A p.Gly34Gly synonymous ANKS1B 1 82098 1.21806E-5 41049 0 NA
12-100377929-C-T p.Gly29Gly synonymous ANKS1B 4 82320 4.85909E-5 41160 0 3.18756E-5
12-100377938-C-T p.Arg26Arg synonymous ANKS1B 1 82298 1.2151E-5 41149 0 NA
12-100377966-G-A p.Ala17Val missense ANKS1B 47 82292 5.71137E-4 41146 0 0.00130731
12-100377968-C-T p.Val16Val synonymous ANKS1B 2 82292 2.43037E-5 41146 0 8.02697E-6
12-100377986-A-G p.Ala10Ala synonymous ANKS1B 1 82086 1.21823E-5 41043 0 8.35869E-6
12-100377998-C-T p.Glu6Glu synonymous ANKS1B 1 81940 1.22041E-5 40970 0 NA
12-100378010-C-T p.Gly2Gly synonymous ANKS1B 207 81714 0.00253323 40857 1 0.00500626
12-100378053-C-A c.-38G>T 5_prime_UTR_premature_start_codon_gain ANKS1B 4 78622 5.08763E-5 39311 0 7.09335E-5
12-100378139-C-T c.-124G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 14 51796 2.70291E-4 25898 0 2.23785E-4
12-100378155-G-A c.-140C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 46220 2.16357E-5 23110 0 NA
12-100378159-C-A c.-144G>T 5_prime_UTR_premature_start_codon_gain ANKS1B 1 45552 2.19529E-5 22776 0 NA
12-100378165-G-T c.-150C>A 5_prime_UTR_premature_start_codon_gain ANKS1B 1 43390 2.30468E-5 21695 0 NA
12-100378172-C-T c.-157G>A 5_prime_UTR_premature_start_codon_gain ANKS1B 1 44062 2.26953E-5 22031 0 NA
12-100378245-G-A c.-230C>T 5_prime_UTR_premature_start_codon_gain ANKS1B 68 18784 0.0036201 9392 0 0.00883798