Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-27035523-T-C c.*1976A>G splice_region ABI1 1 77358 1.29269E-5 38679 0 NA
10-27035525-T-TTGA c.*1971_*1973dupTCA splice_region ABI1 1 77156 1.29608E-5 38578 0 NA
10-27035527-G-C c.*1972C>G splice_region ABI1 4 76822 5.20684E-5 38411 0 NA
10-27037512-T-C p.His493Arg missense ABI1 1 82278 1.21539E-5 41139 0 NA
10-27037513-G-A p.His493Tyr missense ABI1 1 82294 1.21516E-5 41147 0 NA
10-27037523-T-C p.Glu489Glu synonymous ABI1 1 82358 1.21421E-5 41179 0 NA
10-27037529-A-G p.Tyr487Tyr synonymous ABI1 3 82412 3.64025E-5 41206 0 7.99297E-6
10-27037582-C-G p.Gly470Arg missense ABI1 1 82728 1.20878E-5 41364 0 NA
10-27037612-T-C p.Ile460Val missense ABI1 1 82686 1.20939E-5 41343 0 8.40463E-6
10-27037613-T-G p.Ala459Ala synonymous ABI1 1 82674 1.20957E-5 41337 0 3.99128E-6
10-27037650-T-C p.Lys447Arg missense ABI1 1 82628 1.21024E-5 41314 0 NA
10-27037659-T-G p.Asp444Ala missense ABI1 1 82574 1.21103E-5 41287 0 NA
10-27037677-A-G c.1316-3T>C splice_region ABI1 1 82368 1.21406E-5 41184 0 NA
10-27037678-T-C c.1316-4A>G splice_region ABI1 1 82348 1.21436E-5 41174 0 3.18735E-5
10-27040537-A-G p.Tyr435Tyr synonymous ABI1 6 83112 7.21917E-5 41556 0 4.125E-5
10-27040543-C-T p.Lys433Lys synonymous ABI1 1 83146 1.2027E-5 41573 0 NA
10-27040556-G-A p.Ala429Val missense ABI1 1 83178 1.20224E-5 41589 0 NA
10-27040559-G-T p.Pro428His missense ABI1 1 83210 1.20178E-5 41605 0 NA
10-27040566-C-T p.Gly426Arg missense ABI1 1 83224 1.20158E-5 41612 0 NA
10-27040570-T-C p.Ala424Ala synonymous ABI1 1 83240 1.20135E-5 41620 0 3.99345E-6
10-27040576-T-C p.Pro422Pro synonymous ABI1 1 83266 1.20097E-5 41633 0 6.36983E-5
10-27040583-T-C p.Asn420Ser missense ABI1 1 83272 1.20088E-5 41636 0 1.64829E-5
10-27040593-C-A p.Val417Phe missense ABI1 1 83282 1.20074E-5 41641 0 NA
10-27040603-C-T p.Glu413Glu synonymous ABI1 1 83310 1.20034E-5 41655 0 3.98067E-6
10-27040609-A-G p.Asp411Asp synonymous ABI1 1 83316 1.20025E-5 41658 0 3.98102E-6
10-27040623-CTGG-C p.Pro406del conservative_inframe_deletion ABI1 162 83284 0.00194515 41642 0 0.00217165
10-27040636-T-G p.Pro402Pro synonymous ABI1 34 83336 4.07987E-4 41668 0 8.29353E-4
10-27040665-G-A p.Pro393Ser missense ABI1 4 83348 4.79916E-5 41674 0 5.03525E-4
10-27040669-G-A p.Asp391Asp synonymous ABI1 1 83342 1.19988E-5 41671 0 6.37227E-5
10-27040682-G-A p.Pro387Leu missense ABI1 2 83314 2.40056E-5 41657 0 3.38713E-5
10-27040690-C-T p.Pro384Pro synonymous ABI1 1 83274 1.20085E-5 41637 0 4.03724E-6
10-27040691-G-A p.Pro384Leu missense ABI1 3 83272 3.60265E-5 41636 0 5.19922E-5
10-27040694-G-A p.Pro383Leu missense ABI1 1 83276 1.20083E-5 41638 0 8.71429E-6
10-27040698-T-C p.Thr382Ala missense ABI1 2 83246 2.40252E-5 41623 0 4.05545E-6
10-27044577-A-G c.1168+7T>C splice_region ABI1 1 83004 1.20476E-5 41502 0 3.18512E-5
10-27044609-G-A p.Gly381Gly synonymous ABI1 2 83184 2.40431E-5 41592 0 NA
10-27044641-G-A p.Pro371Ser missense ABI1 1 83196 1.20198E-5 41598 0 6.25E-4
10-27044644-T-C p.Met370Val missense ABI1 2 83182 2.40437E-5 41591 0 3.19264E-5
10-27044644-T-G p.Met370Leu missense ABI1 1 83182 1.20218E-5 41591 0 8.24851E-6
10-27044647-G-C p.Pro369Ala missense ABI1 2 83166 2.40483E-5 41583 0 3.98073E-6
10-27044653-G-T p.Pro367Thr missense ABI1 1 83150 1.20265E-5 41575 0 NA
10-27044665-T-C p.Ile363Val missense ABI1 2 83118 2.40622E-5 41559 0 4.39027E-5
10-27044667-G-A p.Ser362Phe missense ABI1 74 83122 8.90258E-4 41561 0 8.92288E-4
10-27044670-A-G p.Ile361Thr missense+splice_region ABI1 3 83112 3.60959E-5 41556 0 1.19793E-5
10-27047984-A-C c.1129+7T>G splice_region ABI1 1 82888 1.20645E-5 41444 0 4.01413E-6
10-27048025-A-G p.His365His synonymous ABI1 1 83096 1.20343E-5 41548 0 3.98295E-6
10-27048025-A-C p.His365Gln missense ABI1 1 83096 1.20343E-5 41548 0 NA
10-27048043-T-C p.Gln359Gln synonymous ABI1 33 83190 3.96682E-4 41595 0 7.64623E-4
10-27048063-T-C p.Thr353Ala missense ABI1 1 83206 1.20184E-5 41603 0 NA
10-27048077-C-G p.Gly348Ala missense ABI1 4 83232 4.80584E-5 41616 0 1.81255E-4
10-27048079-A-G p.Ser347Ser synonymous ABI1 2 83238 2.40275E-5 41619 0 1.9895E-5
10-27048089-G-A p.Ser344Leu missense ABI1 1 83236 1.2014E-5 41618 0 8.23886E-6
10-27048101-G-C p.Ser340Cys missense ABI1 1 83218 1.20166E-5 41609 0 3.18573E-5
10-27048104-T-C p.Asn339Ser missense ABI1 1 83218 1.20166E-5 41609 0 NA
10-27048110-C-T p.Arg337Gln missense ABI1 1 83190 1.20207E-5 41595 0 4.37773E-5
10-27048112-A-C p.Ser336Ser synonymous ABI1 2 83198 2.4039E-5 41599 0 2.4719E-5
10-27048114-A-G p.Ser336Pro missense ABI1 2 83192 2.40408E-5 41596 0 7.1631E-5
10-27048115-T-C p.Ile335Met missense ABI1 1 83186 1.20213E-5 41593 0 7.95862E-6
10-27048123-T-C p.Arg333Gly missense ABI1 1 83182 1.20218E-5 41591 0 3.98E-6
10-27048123-T-A p.Arg333Trp missense ABI1 2 83182 2.40437E-5 41591 0 6.37024E-5
10-27048125-G-T p.Thr332Asn missense ABI1 1 83176 1.20227E-5 41588 0 NA
10-27048129-T-C p.Met331Val missense ABI1 1 83152 1.20262E-5 41576 0 NA
10-27048130-T-G p.Thr330Thr synonymous ABI1 1 83146 1.2027E-5 41573 0 3.98092E-6
10-27048154-T-C p.Ser322Ser synonymous ABI1 2 82986 2.41005E-5 41493 0 1.19613E-5
10-27048157-G-A p.Gly321Gly synonymous ABI1 3 82944 3.6169E-5 41472 0 NA
10-27048161-G-A p.Pro320Leu missense ABI1 1 82922 1.20595E-5 41461 0 1.19874E-5
10-27048164-G-A p.Ala274Val missense+splice_region ABI1 1 82878 1.20659E-5 41439 0 NA
10-27052802-A-G c.952+7T>C splice_region ABI1 1 82460 1.21271E-5 41230 0 6.25E-4
10-27052848-G-T p.Pro305Thr missense ABI1 1 82684 1.20942E-5 41342 0 NA
10-27052849-T-G p.Ala304Ala synonymous ABI1 1 82676 1.20954E-5 41338 0 1.65546E-5
10-27052863-CAGA-C p.Ser299del conservative_inframe_deletion ABI1 20 82638 2.42019E-4 41319 0 9.12818E-5
10-27052872-G-A p.Pro297Ser missense ABI1 141 82582 0.00170739 41291 3 0.00315226
10-27052874-G-C p.Pro296Arg missense ABI1 1 82566 1.21115E-5 41283 0 NA
10-27052879-A-G p.Ser294Ser synonymous ABI1 3 82516 3.63566E-5 41258 0 6.36902E-5
10-27052885-G-A p.Asn292Asn synonymous ABI1 1 82406 1.2135E-5 41203 0 3.18735E-5
10-27054149-G-C p.Pro290Arg missense+splice_region ABI1 7 83038 8.42988E-5 41519 0 4.63063E-5
10-27054156-T-C p.Ile288Val missense ABI1 2 83148 2.40535E-5 41574 0 8.40329E-6
10-27054159-T-C p.Thr287Ala missense ABI1 1 83152 1.20262E-5 41576 0 NA
10-27054166-C-T p.Ser284Ser synonymous ABI1 10 83114 1.20317E-4 41557 0 2.87246E-4
10-27054171-G-T p.Pro283Thr missense ABI1 1 83138 1.20282E-5 41569 0 NA
10-27054175-A-G p.Pro281Pro synonymous ABI1 1 83140 1.20279E-5 41570 0 0.00100705
10-27054175-A-C p.Pro281Pro synonymous ABI1 1 83140 1.20279E-5 41570 0 NA
10-27054186-T-C p.Ile278Val missense ABI1 2 83156 2.40512E-5 41578 0 3.18979E-5
10-27054187-G-A p.Pro277Pro synonymous ABI1 3 83158 3.60759E-5 41579 0 1.01447E-5
10-27054188-G-C p.Pro277Arg missense ABI1 1 83168 1.20239E-5 41584 0 NA
10-27054238-A-G p.Ser260Ser synonymous ABI1 15 83040 1.80636E-4 41520 0 0.00151057
10-27054247-A-G p.Ser257Ser splice_region+synonymous ABI1 2 82922 2.41191E-5 41461 0 1.0761E-5
10-27054249-T-G c.771-2A>C splice_acceptor ABI1 1 82868 1.20674E-5 41434 0 NA
10-27054255-G-A c.771-8C>T splice_region ABI1 9 81354 1.10628E-4 40677 0 0.00788346
10-27057773-A-C c.770+8T>G splice_region ABI1 1 82610 1.21051E-5 41305 0 1.66681E-5
10-27057789-C-T p.Arg254Arg synonymous ABI1 1 82740 1.20861E-5 41370 0 5.09684E-4
10-27057792-T-C p.Pro253Pro synonymous ABI1 2 82734 2.41739E-5 41367 0 6.37146E-5
10-27057806-A-C p.Leu249Val missense ABI1 2 82792 2.41569E-5 41396 0 1.59785E-5
10-27057828-A-C p.His241Gln missense ABI1 1 82804 1.20767E-5 41402 0 NA
10-27057829-T-C p.His241Arg missense ABI1 2 82804 2.41534E-5 41402 0 3.18492E-5
10-27057849-A-G p.Pro234Pro synonymous ABI1 2 82776 2.41616E-5 41388 0 NA
10-27057881-G-A p.Pro224Ser missense ABI1 1 82868 1.20674E-5 41434 0 NA
10-27057895-T-C p.Glu219Gly missense ABI1 2 82856 2.41383E-5 41428 0 6.36862E-5
10-27057899-G-C p.Leu218Val missense ABI1 1 82844 1.20709E-5 41422 0 NA
10-27057906-A-G p.Tyr215Tyr synonymous ABI1 9 82840 1.08643E-4 41420 0 4.13986E-4
10-27057908-A-G p.Tyr215His missense ABI1 1 82832 1.20726E-5 41416 0 NA
10-27057915-A-G p.Asn212Asn synonymous ABI1 2 82818 2.41493E-5 41409 0 4.07368E-6
10-27057919-C-A p.Arg211Leu missense+splice_region ABI1 1 82696 1.20925E-5 41348 0 5.08647E-4
10-27057927-G-T c.630-6C>A splice_region ABI1 1 82618 1.21039E-5 41309 0 4.63122E-6
10-27059167-T-C c.629+7A>G splice_region ABI1 1 83144 1.20273E-5 41572 0 8.24715E-6
10-27059178-G-A p.Leu209Leu synonymous ABI1 2 83254 2.40229E-5 41627 0 NA
10-27059186-C-T p.Arg206Gln missense ABI1 1 83278 1.2008E-5 41639 0 6.25E-4
10-27059187-G-A p.Arg206Trp missense ABI1 1 83286 1.20068E-5 41643 0 3.29625E-5
10-27059195-A-G p.Met203Thr missense ABI1 1 83330 1.20005E-5 41665 0 6.25E-4
10-27059196-T-C p.Met203Val missense ABI1 9 83340 1.07991E-4 41670 0 4.53489E-4
10-27059202-G-T p.Pro201Thr missense ABI1 1 83336 1.19996E-5 41668 0 2.47174E-5
10-27059215-C-T p.Gln196Gln synonymous ABI1 1 83370 1.19947E-5 41685 0 2.4717E-5
10-27059216-T-C p.Gln196Arg missense ABI1 1 83370 1.19947E-5 41685 0 3.1841E-5
10-27059218-A-C p.Thr195Thr synonymous ABI1 1 83364 1.19956E-5 41682 0 NA
10-27059237-G-A p.Ser189Leu missense ABI1 2 83366 2.39906E-5 41683 0 NA
10-27059239-C-T p.Leu188Leu synonymous ABI1 2 83358 2.39929E-5 41679 0 1.07118E-4
10-27059444-G-A c.480+8C>T splice_region ABI1 2 68000 2.94118E-5 34000 0 3.18715E-5
10-27059451-C-T c.480+1G>A splice_donor ABI1 2 66940 2.98775E-5 33470 0 3.18796E-5
10-27059460-T-A p.Lys158* stop_gained ABI1 2 65536 3.05176E-5 32768 0 6.141E-5
10-27060001-T-G c.528+3A>C splice_region ABI1 1 82990 1.20496E-5 41495 0 NA
10-27066023-C-T p.Val162Ile missense ABI1 16 83146 1.92433E-4 41573 0 4.94723E-4
10-27066032-C-T p.Asp159Asn missense ABI1 2 83132 2.40581E-5 41566 0 3.18492E-5
10-27066033-G-A p.Ile158Ile synonymous ABI1 4 83132 4.81162E-5 41566 0 3.30497E-5
10-27066039-T-C p.Lys156Lys synonymous ABI1 92 83142 0.00110654 41571 0 0.00553877
10-27066044-G-A p.Arg155Trp missense ABI1 3 83144 3.6082E-5 41572 0 8.25314E-6
10-27066057-A-G p.Pro150Pro synonymous ABI1 1 83156 1.20256E-5 41578 0 6.25E-4
10-27066061-C-T p.Arg149His missense ABI1 2 83154 2.40518E-5 41577 0 8.25151E-6
10-27066072-C-T p.Ala145Ala synonymous ABI1 3 83146 3.60811E-5 41573 0 9.55657E-5
10-27066073-G-A p.Ala145Val missense ABI1 42 83146 5.05136E-4 41573 0 3.79638E-4
10-27066082-A-G p.Ile142Thr missense ABI1 1 83138 1.20282E-5 41569 0 NA
10-27066083-T-C p.Ile142Val missense ABI1 2 83138 2.40564E-5 41569 0 NA
10-27066095-T-C p.Thr138Ala missense ABI1 1 83120 1.20308E-5 41560 0 NA
10-27066106-T-C p.Asn134Ser missense ABI1 10 83078 1.20369E-4 41539 0 6.36699E-5
10-27066164-CCA-C p.Val114fs frameshift ABI1 1 82482 1.21239E-5 41241 0 NA
10-27066172-T-TGTGAGATATGATTGATGGAAGACTCCATTCTCCGAAGCTGAGAGGCTTGGATATCC c.337-3_337-2insGGATATCCAAGCCTCTCAGCTTCGGAGAATGGAGTCTTCCATCAATCATATCTCAC splice_region ABI1 6 82346 7.28633E-5 41173 3 NA
10-27066178-T-A c.337-8A>T splice_region ABI1 2 82156 2.43439E-5 41078 0 1.06256E-5
10-27112060-C-T c.336+7G>A splice_region ABI1 1 82612 1.21048E-5 41306 0 NA
10-27112112-G-A p.Ala97Ala synonymous ABI1 3 82980 3.61533E-5 41490 0 6.37308E-5
10-27112126-G-A p.Leu93Leu synonymous ABI1 3 82972 3.61568E-5 41486 0 3.18654E-5
10-27112133-G-T p.Leu90Leu synonymous ABI1 2 82988 2.40999E-5 41494 0 NA
10-27112136-T-C p.Val89Val synonymous ABI1 1 82972 1.20523E-5 41486 0 NA
10-27112136-T-G p.Val89Val synonymous ABI1 6 82972 7.23136E-5 41486 0 0.00100705
10-27112140-T-C p.Asn88Ser missense ABI1 1 82984 1.20505E-5 41492 0 4.12575E-6
10-27112143-T-C p.Asn87Ser missense ABI1 1 82972 1.20523E-5 41486 0 8.24049E-6
10-27112178-T-C p.Leu75Leu synonymous ABI1 32 82830 3.86333E-4 41415 0 0.004375
10-27112237-G-GTATGTAGTTGTTTTCACAGTAGTCTGCCACCCGAGTCAGGTTCTGGT c.169-4_169-3insACCAGAACCTGACTCGGGTGGCAGACTACTGTGAAAACAACTACATA splice_region ABI1 2 80340 2.48942E-5 40170 1 NA
10-27128670-A-G p.Trp54Arg missense ABI1 1 16400 6.09756E-5 8200 0 NA
10-27128718-G-T c.118-6C>A splice_region ABI1 2 16324 1.22519E-4 8162 0 4.18707E-4
10-27149668-C-T c.117+8G>A splice_region ABI1 1 80330 1.24486E-5 40165 0 8.31006E-6
10-27149699-A-G p.Tyr32His missense ABI1 1 82502 1.21209E-5 41251 0 NA
10-27149703-T-A p.Ala30Ala synonymous ABI1 1 82638 1.2101E-5 41319 0 NA
10-27149703-T-G p.Ala30Ala synonymous ABI1 2 82636 2.42025E-5 41318 0 2.47967E-5
10-27149732-C-G p.Glu21Gln missense ABI1 2 83032 2.40871E-5 41516 0 3.18776E-5
10-27149738-G-A p.Leu19Leu synonymous ABI1 1 83058 1.20398E-5 41529 0 NA
10-27149741-C-T p.Ala18Thr missense ABI1 1 83070 1.2038E-5 41535 0 8.25137E-6
10-27149748-G-A p.Gly15Gly synonymous ABI1 1 83102 1.20334E-5 41551 0 1.65E-5
10-27149750-C-G p.Gly15Arg missense ABI1 1 83118 1.20311E-5 41559 0 NA
10-27149787-T-C p.Ala2Ala synonymous ABI1 1 83074 1.20375E-5 41537 0 NA
10-27149789-C-A p.Ala2Ser missense ABI1 1 83050 1.20409E-5 41525 0 7.95615E-6
10-27149860-C-A c.-68G>T 5_prime_UTR_premature_start_codon_gain ABI1 209 77676 0.00269066 38838 0 0.00375
10-27149866-C-G c.-74G>C 5_prime_UTR_premature_start_codon_gain ABI1 1 75010 1.33316E-5 37505 0 NA
10-27149925-C-T c.-133G>A 5_prime_UTR_premature_start_codon_gain ABI1 1 48146 2.07702E-5 24073 0 3.19489E-5
10-27149965-C-T c.-173G>A 5_prime_UTR_premature_start_codon_gain ABI1 150 31320 0.00478927 15660 0 0.0107916
10-27149973-G-A c.-181C>T 5_prime_UTR_premature_start_codon_gain ABI1 21 28510 7.36584E-4 14255 0 9.09741E-4