Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-48201210-GCCATGA-G p.Leu1335_Ala1337delinsPro disruptive_inframe_deletion ABCC11 1 77898 1.28373E-5 38949 0 8.25178E-6
16-48201218-G-T p.Ala1334Ala synonymous ABCC11 3 78256 3.83357E-5 39128 0 NA
16-48201222-G-A p.Ala1333Val missense ABCC11 1 78410 1.27535E-5 39205 0 NA
16-48201223-C-T p.Ala1333Thr missense ABCC11 3 78440 3.82458E-5 39220 0 6.59022E-5
16-48201224-G-A p.Phe1332Phe synonymous ABCC11 2 78494 2.54797E-5 39247 0 1.91131E-4
16-48201224-G-C p.Phe1332Leu missense ABCC11 1 78494 1.27398E-5 39247 0 3.295E-5
16-48201234-C-T p.Gly1329Glu missense ABCC11 1 79100 1.26422E-5 39550 0 1.6475E-5
16-48201239-C-A p.Lys1327Asn missense ABCC11 1 79366 1.25999E-5 39683 0 3.18431E-5
16-48201246-C-T p.Arg1325Gln missense ABCC11 2 79798 2.50633E-5 39899 0 NA
16-48201247-G-A p.Arg1325Trp missense ABCC11 1 79866 1.2521E-5 39933 0 5.03525E-4
16-48201253-C-A p.Val1323Leu missense ABCC11 4 80440 4.97265E-5 40220 0 1.19302E-5
16-48201254-C-T p.Glu1322Glu synonymous ABCC11 1 80544 1.24156E-5 40272 0 NA
16-48201257-C-T p.Pro1321Pro synonymous ABCC11 4 80686 4.95749E-5 40343 0 8.23791E-6
16-48201261-C-T p.Arg1320Gln missense ABCC11 3 81052 3.70133E-5 40526 0 2.78399E-5
16-48201262-G-A p.Arg1320Trp missense ABCC11 2 81210 2.46275E-5 40605 0 6.59076E-5
16-48201277-C-T p.Val1315Met missense+splice_region ABCC11 3 81960 3.66032E-5 40980 0 1.64799E-5
16-48201400-C-A c.3942+7G>T splice_region ABCC11 25 83180 3.00553E-4 41590 0 5.09911E-4
16-48201400-C-G c.3942+7G>C splice_region ABCC11 1 83180 1.20221E-5 41590 0 7.97277E-6
16-48201401-C-T c.3942+6G>A splice_region ABCC11 2 83194 2.40402E-5 41597 0 3.58654E-5
16-48201429-A-G p.Ile1307Thr missense ABCC11 3 83250 3.6036E-5 41625 0 2.47162E-5
16-48201432-T-C p.His1306Arg missense ABCC11 15943 83028 0.19202 41514 1726 0.218778
16-48201453-G-C p.Thr1299Ser missense ABCC11 2 83276 2.40165E-5 41638 0 2.47137E-5
16-48201454-T-C p.Thr1299Ala missense ABCC11 3 83280 3.60231E-5 41640 0 3.97804E-6
16-48201460-G-A p.Arg1297Cys missense ABCC11 6 83296 7.20323E-5 41648 0 1.19336E-5
16-48201472-C-T p.Val1293Ile missense ABCC11 2 83322 2.40033E-5 41661 0 0.00100705
16-48201473-G-A p.Leu1292Leu synonymous ABCC11 1 83316 1.20025E-5 41658 0 4.11855E-5
16-48201476-C-T p.Val1291Val synonymous ABCC11 34 83312 4.08104E-4 41656 0 0.00220754
16-48201478-C-T p.Val1291Met missense ABCC11 4 83318 4.80088E-5 41659 0 3.18735E-5
16-48201478-C-A p.Val1291Leu missense ABCC11 1 83318 1.20022E-5 41659 0 NA
16-48201479-G-A p.Thr1290Thr synonymous ABCC11 252 83316 0.00302463 41658 2 0.00541746
16-48201483-C-T p.Cys1289Tyr missense ABCC11 1 83314 1.20028E-5 41657 0 NA
16-48201487-C-T p.Gly1288Ser missense ABCC11 1 83322 1.20016E-5 41661 0 NA
16-48201497-TTCACGGATTGTGCGCTGGATCAGGGTG-T p.Asp1275_Arg1283del disruptive_inframe_deletion ABCC11 73 83316 8.76182E-4 41658 2 0.0018204
16-48201501-C-T p.Arg1283His missense ABCC11 2 83308 2.40073E-5 41654 0 4.12154E-5
16-48201502-G-A p.Arg1283Cys missense ABCC11 1 83306 1.20039E-5 41653 0 2.39166E-5
16-48201507-G-A p.Thr1281Ile missense ABCC11 1 83306 1.20039E-5 41653 0 1.64859E-5
16-48201510-C-T p.Arg1280His missense ABCC11 3 83304 3.60127E-5 41652 0 2.79025E-5
16-48201511-G-A p.Arg1280Cys missense ABCC11 11 83302 1.3205E-4 41651 0 5.03525E-4
16-48201534-A-G p.Met1272Thr missense ABCC11 15 83298 1.80076E-4 41649 0 8.75051E-5
16-48201541-T-A p.Ile1270Phe missense ABCC11 1 83292 1.2006E-5 41646 0 NA
16-48201551-G-A p.Ala1266Ala synonymous ABCC11 1 83276 1.20083E-5 41638 0 NA
16-48201560-G-A p.Ile1263Ile synonymous ABCC11 2 83218 2.40333E-5 41609 0 1.19383E-5
16-48201565-G-A p.Leu1262Phe missense ABCC11 1 83178 1.20224E-5 41589 0 NA
16-48204009-GC-AT c.3891+6_3891+7delGCinsAT splice_region ABCC11 6 82396 7.28191E-5 41198 0 NA
16-48204017-T-C p.Lys1297Arg missense+splice_region ABCC11 1 82648 1.20995E-5 41324 0 NA
16-48204018-T-C p.Lys1297Glu missense+splice_region ABCC11 2 82682 2.41891E-5 41341 0 1.57634E-4
16-48204024-T-C p.Asn1295Asp missense ABCC11 1 82788 1.2079E-5 41394 0 1.65623E-5
16-48204026-C-T p.Arg1294His missense ABCC11 2 82816 2.41499E-5 41408 0 3.18829E-5
16-48204027-G-A p.Arg1294Cys missense ABCC11 3 82840 3.62144E-5 41420 0 6.37064E-5
16-48204036-C-G p.Ala1291Pro missense ABCC11 2 83012 2.40929E-5 41506 0 1.27397E-4
16-48204038-C-T p.Arg1290Lys missense ABCC11 1 83018 1.20456E-5 41509 0 NA
16-48204045-T-G p.Ile1288Leu missense ABCC11 6 83060 7.22369E-5 41530 1 1.90941E-4
16-48204051-G-T p.Leu1286Ile missense ABCC11 1 83104 1.20331E-5 41552 0 NA
16-48204060-T-A p.Arg1283Trp missense ABCC11 1 83176 1.20227E-5 41588 0 8.24076E-6
16-48204077-T-A p.Asn1277Ile missense ABCC11 326 83198 0.00391836 41599 7 0.00780702
16-48204078-T-A p.Asn1277Tyr missense ABCC11 7597 82988 0.0915434 41494 421 0.119335
16-48204078-TT-AA p.GlyAsn1276GlyTyr missense ABCC11 1 83214 1.20172E-5 41607 0 NA
16-48204084-C-T p.Gly1275Ser missense ABCC11 8 83206 9.61469E-5 41603 0 4.14013E-4
16-48204085-G-A p.Asn1274Asn synonymous ABCC11 3 83208 3.60542E-5 41604 0 6.36943E-5
16-48204093-CCACAT-C p.Asp1270fs frameshift ABCC11 2 83198 2.4039E-5 41599 0 3.18431E-5
16-48204096-C-A p.Val1271Leu missense ABCC11 1 83198 1.20195E-5 41599 0 8.24076E-6
16-48204102-T-C p.Thr1269Ala missense ABCC11 1 83162 1.20247E-5 41581 0 3.97791E-6
16-48204103-A-G p.His1268His synonymous ABCC11 1 83156 1.20256E-5 41578 0 4.77316E-5
16-48204112-T-C p.Lys1265Lys synonymous ABCC11 1 83108 1.20325E-5 41554 0 NA
16-48204118-G-T p.Phe1263Leu missense ABCC11 1 83090 1.20351E-5 41545 0 NA
16-48204130-C-T c.3778-1G>A splice_acceptor ABCC11 1131 82894 0.0136439 41447 7 0.0109863
16-48204130-C-A c.3778-1G>T splice_acceptor ABCC11 1 82944 1.20563E-5 41472 0 3.1841E-5
16-48204133-C-G c.3778-4G>C splice_region ABCC11 1 82838 1.20718E-5 41419 0 3.98425E-6
16-48204133-C-T c.3778-4G>A splice_region ABCC11 1 82838 1.20718E-5 41419 0 1.11559E-4
16-48204134-G-A c.3778-5C>T splice_region ABCC11 4 82850 4.828E-5 41425 0 7.16977E-5
16-48204136-T-C c.3778-7A>G splice_region ABCC11 11 82794 1.3286E-4 41397 0 6.25E-4
16-48204794-A-G c.3777+6T>C splice_region ABCC11 1 81090 1.2332E-5 40545 0 NA
16-48204798-A-ACGG c.3777+1_3777+2insCCG splice_donor ABCC11 1 81196 1.23159E-5 40598 0 NA
16-48204799-C-T c.3777+1G>A splice_donor ABCC11 6 81176 7.39135E-5 40588 0 4.95892E-5
16-48204801-G-A p.Ala1259Val missense+splice_region ABCC11 1 81276 1.23038E-5 40638 0 3.98464E-6
16-48204803-C-T p.Lys1258Lys synonymous ABCC11 1 81342 1.22938E-5 40671 0 1.07406E-4
16-48204820-T-C p.Arg1253Gly missense ABCC11 1 81588 1.22567E-5 40794 0 8.25955E-6
16-48204831-T-G p.Asp1249Ala missense ABCC11 8 81552 9.80969E-5 40776 0 8.26228E-6
16-48204837-A-G p.Ile1247Thr missense ABCC11 1 81468 1.22748E-5 40734 0 NA
16-48204837-A-C p.Ile1247Ser missense ABCC11 3 81468 3.68243E-5 40734 0 NA
16-48204839-C-T p.Gln1246Gln synonymous ABCC11 1 81466 1.22751E-5 40733 0 8.2646E-6
16-48204843-T-A p.Gln1245Leu missense ABCC11 85 81406 0.00104415 40703 3 0.00375
16-48204849-G-C p.Thr1243Ser missense ABCC11 1 81252 1.23074E-5 40626 0 3.18492E-5
16-48204849-G-A p.Thr1243Ile missense ABCC11 5 81252 6.15369E-5 40626 0 3.98356E-6
16-48204855-C-T p.Arg1241His missense ABCC11 4 81078 4.93352E-5 40539 0 9.55475E-5
16-48204856-G-A p.Arg1241Cys missense ABCC11 5 81056 6.16858E-5 40528 0 9.55353E-5
16-48204862-A-C p.Phe1239Val missense ABCC11 1 80788 1.23781E-5 40394 0 3.1837E-5
16-48204872-G-A p.Asn1235Asn synonymous ABCC11 1 80054 1.24916E-5 40027 0 1.19714E-5
16-48204884-A-G c.3699-6T>C splice_region ABCC11 1 78950 1.26662E-5 39475 0 NA
16-48204885-T-A c.3699-7A>T splice_region ABCC11 2 78750 2.53968E-5 39375 0 8.29146E-6
16-48209161-G-T c.3698+8C>A splice_region ABCC11 1 82876 1.20662E-5 41438 0 NA
16-48209176-T-C p.Thr1231Ala missense ABCC11 2 83086 2.40714E-5 41543 0 8.30192E-6
16-48209178-C-T p.Gly1230Glu missense ABCC11 288 83072 0.00346687 41536 3 0.00739089
16-48209181-G-C p.Ser1229* stop_gained ABCC11 1 83110 1.20322E-5 41555 0 NA
16-48209194-G-T p.Pro1225Thr missense ABCC11 5 83192 6.01019E-5 41596 0 1.6542E-5
16-48209200-G-A p.Gln1223* stop_gained ABCC11 1 83200 1.20192E-5 41600 0 6.36983E-5
16-48209206-T-C p.Ile1221Val missense ABCC11 1 83200 1.20192E-5 41600 0 NA
16-48209215-G-C p.Leu1218Val missense ABCC11 5 83188 6.01048E-5 41594 0 9.55718E-5
16-48209219-G-A p.Ser1216Ser synonymous ABCC11 2 83194 2.40402E-5 41597 0 NA
16-48209223-C-T p.Arg1215Gln missense ABCC11 12 83192 1.44245E-4 41596 1 0.001875
16-48209237-G-T p.Gly1210Gly synonymous ABCC11 1 83168 1.20239E-5 41584 0 NA
16-48209240-G-A p.Ile1209Ile synonymous ABCC11 5 83154 6.01294E-5 41577 0 2.2307E-4
16-48209248-A-G p.Cys1207Arg missense ABCC11 1 83138 1.20282E-5 41569 0 NA
16-48209257-C-T p.Val1204Met missense ABCC11 9 83086 1.08321E-4 41543 0 1.43256E-4
16-48209259-C-T p.Gly1203Asp missense ABCC11 1 83056 1.20401E-5 41528 0 1.27372E-4
16-48209260-C-T p.Gly1203Ser missense ABCC11 1 83044 1.20418E-5 41522 0 8.27034E-6
16-48209261-G-A p.Asp1202Asp synonymous ABCC11 1 83040 1.20424E-5 41520 0 8.27034E-6
16-48209264-A-G p.Ile1201Ile synonymous ABCC11 1 83028 1.20441E-5 41514 0 8.27198E-6
16-48209274-C-T p.Arg1198Gln missense ABCC11 9 82932 1.08523E-4 41466 0 3.1841E-5
16-48209274-C-A p.Arg1198Leu missense ABCC11 1 82934 1.20578E-5 41467 0 3.9813E-6
16-48209275-G-A p.Arg1198Trp missense ABCC11 2 82922 2.41191E-5 41461 0 4.77772E-5
16-48209282-C-T p.Met1195Ile missense ABCC11 1 82866 1.20677E-5 41433 0 NA
16-48209283-A-G p.Met1195Thr missense ABCC11 1 82860 1.20685E-5 41430 0 1.65893E-5
16-48209286-G-A p.Pro1194Leu missense ABCC11 1 82820 1.20744E-5 41410 0 1.66154E-5
16-48209298-C-T p.Arg1190His missense ABCC11 6 82686 7.25637E-5 41343 0 0.00125
16-48209299-G-A p.Arg1190Cys missense ABCC11 4 82698 4.83688E-5 41349 0 6.6739E-5
16-48209316-A-G p.Leu1184Ser missense ABCC11 2 82366 2.42819E-5 41183 0 4.24016E-5
16-48209318-G-A p.Ser1183Ser synonymous ABCC11 1 82310 1.21492E-5 41155 0 NA
16-48209322-G-T p.Ser1182Tyr missense ABCC11 2 82106 2.43588E-5 41053 0 NA
16-48209330-T-G c.3539-2A>C splice_acceptor ABCC11 2 81722 2.44732E-5 40861 0 NA
16-48209333-G-A c.3539-5C>T splice_region ABCC11 4 81472 4.90966E-5 40736 0 8.77778E-6
16-48210834-C-T c.3538+1G>A splice_donor ABCC11 2 82900 2.41255E-5 41450 0 NA
16-48210840-C-T p.Gly1178Asp missense ABCC11 1 82980 1.20511E-5 41490 0 3.18451E-5
16-48210842-C-T p.Thr1177Thr synonymous ABCC11 8 82996 9.63902E-5 41498 0 3.20819E-4
16-48210843-G-A p.Thr1177Met missense ABCC11 2 83026 2.40888E-5 41513 0 6.37105E-5
16-48210846-C-T p.Arg1176Lys missense ABCC11 1 83058 1.20398E-5 41529 0 3.98743E-6
16-48210853-C-T p.Val1174Met missense ABCC11 1 83108 1.20325E-5 41554 0 3.98578E-6
16-48210854-G-A p.Ile1173Ile synonymous ABCC11 2 83126 2.40599E-5 41563 0 8.49228E-6
16-48210855-A-T p.Ile1173Asn missense ABCC11 1 83122 1.20305E-5 41561 0 NA
16-48210868-C-A p.Glu1169* stop_gained ABCC11 1 83142 1.20276E-5 41571 0 5.04032E-4
16-48210869-G-A p.His1168His synonymous ABCC11 6 83136 7.21709E-5 41568 0 5.04032E-4
16-48210874-C-T p.Gly1167Ser missense ABCC11 3 83166 3.60724E-5 41583 0 3.18593E-5
16-48210875-G-A p.Arg1166Arg synonymous ABCC11 1 83168 1.20239E-5 41584 0 3.18654E-5
16-48210876-C-T p.Arg1166His missense ABCC11 3 83172 3.60698E-5 41586 0 NA
16-48210877-G-A p.Arg1166Cys missense ABCC11 5 83184 6.01077E-5 41592 0 1.25211E-4
16-48210881-G-A p.Thr1164Thr synonymous ABCC11 2 83200 2.40385E-5 41600 0 NA
16-48210886-G-C p.Leu1163Val missense ABCC11 1 83210 1.20178E-5 41605 0 8.31919E-6
16-48210889-T-C p.Asn1162Asp missense ABCC11 1 83216 1.20169E-5 41608 0 NA
16-48210892-T-C p.Ile1161Val missense ABCC11 2 83218 2.40333E-5 41609 0 2.49248E-5
16-48210896-G-A p.His1159His synonymous ABCC11 10 83210 1.20178E-4 41605 0 3.58146E-5
16-48210903-AC-A p.Val1157fs frameshift ABCC11 1 83226 1.20155E-5 41613 0 NA
16-48210904-C-T p.Val1157Met missense ABCC11 6 83226 7.20929E-5 41613 0 4.97323E-5
16-48210905-G-A p.Thr1156Thr synonymous ABCC11 1 83232 1.20146E-5 41616 0 3.31532E-5
16-48210924-T-C p.Tyr1150Cys missense ABCC11 2 83282 2.40148E-5 41641 0 3.97785E-6
16-48210928-T-A p.Lys1149* stop_gained ABCC11 1 83292 1.2006E-5 41646 0 8.26569E-6
16-48210930-A-G p.Met1148Thr missense ABCC11 1 83294 1.20057E-5 41647 0 NA
16-48210940-C-T p.Asp1145Asn missense ABCC11 2 83306 2.40079E-5 41653 0 7.95494E-6
16-48210971-C-A p.Gly1134Gly synonymous ABCC11 2 83310 2.40067E-5 41655 0 1.65016E-5
16-48210974-CT-C p.Gln1133fs frameshift ABCC11 1 83314 1.20028E-5 41657 0 3.18512E-5
16-48211011-T-C p.Glu1121Gly missense ABCC11 1 83208 1.20181E-5 41604 0 NA
16-48211013-C-T p.Ser1120Ser synonymous ABCC11 1 83190 1.20207E-5 41595 0 8.01205E-6
16-48211014-G-A p.Ser1120Leu missense ABCC11 1 83176 1.20227E-5 41588 0 6.8079E-5
16-48211023-A-G p.Met1117Thr missense+splice_region ABCC11 1 83124 1.20302E-5 41562 0 NA
16-48212524-A-G p.Ile1111Thr missense ABCC11 1 83158 1.20253E-5 41579 0 NA
16-48212526-C-A p.Arg1110Ser missense ABCC11 1 83178 1.20224E-5 41589 0 NA
16-48212528-T-G p.Arg1110Arg synonymous ABCC11 1 83180 1.20221E-5 41590 0 0.00100705
16-48212531-C-A p.Glu1109* stop_gained ABCC11 4 83186 4.8085E-5 41593 0 3.18593E-5
16-48212531-C-T p.Glu1109Lys missense ABCC11 5 83186 6.01063E-5 41593 0 4.93203E-4
16-48212532-T-C p.Val1108Val synonymous ABCC11 1 83168 1.20239E-5 41584 0 1.64815E-5
16-48212534-C-T p.Val1108Ile missense ABCC11 2 83182 2.40437E-5 41591 0 9.5584E-5
16-48212536-G-A p.Ala1107Val missense ABCC11 2 83182 2.40437E-5 41591 0 3.18634E-5
16-48212539-G-A p.Thr1106Met missense ABCC11 4 83182 4.80873E-5 41591 0 2.38652E-5
16-48212541-G-A p.Phe1105Phe synonymous ABCC11 1 83196 1.20198E-5 41598 0 3.18695E-5
16-48212570-G-A p.Arg1096Trp missense ABCC11 2 83092 2.40697E-5 41546 0 3.29837E-5
16-48212572-G-A p.Ala1095Val missense ABCC11 1 83090 1.20351E-5 41545 0 1.31948E-4
16-48212579-C-A p.Ala1093Ser missense ABCC11 1 83016 1.20459E-5 41508 0 NA
16-48212584-A-C p.Phe1091Cys missense ABCC11 1 82968 1.20528E-5 41484 0 1.59138E-5
16-48212590-G-C p.Ser1089Cys missense ABCC11 2 82880 2.41313E-5 41440 0 3.97966E-6
16-48212592-C-T p.Ala1088Ala synonymous ABCC11 246 82806 0.0029708 41403 2 0.00745811
16-48212593-G-A p.Ala1088Val missense ABCC11 3 82738 3.6259E-5 41369 0 9.55231E-5
16-48212595-C-T p.Leu1087Leu splice_region+synonymous ABCC11 2 82732 2.41744E-5 41366 0 NA
16-48212598-C-A c.3259-1G>T splice_acceptor ABCC11 6 82662 7.25847E-5 41331 0 6.36862E-5
16-48218345-C-G c.3258+6G>C splice_region ABCC11 1 83068 1.20383E-5 41534 0 NA
16-48218359-C-G p.Val1084Leu missense ABCC11 1 83180 1.20221E-5 41590 0 8.32058E-6
16-48218359-C-T p.Val1084Met missense ABCC11 7 83178 8.41569E-5 41589 0 0.00100705
16-48218360-G-A p.Ile1083Ile synonymous ABCC11 1 83190 1.20207E-5 41595 0 1.66154E-5
16-48218366-G-T p.Val1081Val synonymous ABCC11 7 83216 8.41184E-5 41608 0 4.38153E-5
16-48218391-G-A p.Pro1073Leu missense ABCC11 6 83272 7.2053E-5 41636 0 4.69824E-4
16-48218391-G-C p.Pro1073Arg missense ABCC11 3 83272 3.60265E-5 41636 0 3.18512E-5
16-48218394-G-A p.Thr1072Ile missense ABCC11 1 83278 1.2008E-5 41639 0 3.97772E-6
16-48218395-T-C p.Thr1072Ala missense ABCC11 11 83272 1.32097E-4 41636 0 5.03525E-4
16-48218396-G-A p.Ser1071Ser synonymous ABCC11 1 83294 1.20057E-5 41647 0 NA
16-48218402-A-G p.Ile1069Ile synonymous ABCC11 37 83304 4.44156E-4 41652 0 3.73867E-4
16-48218415-A-T p.Val1065Glu missense ABCC11 3 83314 3.60084E-5 41657 0 1.98855E-5
16-48218416-C-T p.Val1065Met missense ABCC11 167 83306 0.00200466 41653 0 0.00366587
16-48218417-G-A p.Phe1064Phe synonymous ABCC11 1 83320 1.20019E-5 41660 0 3.1837E-5
16-48218422-G-A p.Leu1063Leu synonymous ABCC11 2 83326 2.40021E-5 41663 0 NA
16-48218423-G-A p.Ala1062Ala synonymous ABCC11 1 83324 1.20013E-5 41662 0 NA
16-48218425-C-T p.Ala1062Thr missense ABCC11 4 83328 4.80031E-5 41664 0 3.1839E-5
16-48218427-AC-A p.Val1061fs frameshift ABCC11 1 83330 1.20005E-5 41665 0 NA
16-48218439-A-ACAAGG p.Val1057fs frameshift ABCC11 2 83336 2.39992E-5 41668 0 NA
16-48218441-A-G p.Leu1056Leu synonymous ABCC11 1 83342 1.19988E-5 41671 0 7.95361E-6
16-48218462-C-A p.Arg1049Ser missense ABCC11 2 83344 2.39969E-5 41672 0 3.97687E-6
16-48218470-C-T p.Ala1047Thr missense ABCC11 1 83346 1.19982E-5 41673 0 7.95393E-6
16-48218471-C-T p.Met1046Ile missense ABCC11 2 83340 2.39981E-5 41670 0 3.1841E-5
16-48218476-A-C p.Trp1045Gly missense ABCC11 1 83346 1.19982E-5 41673 0 3.57947E-5
16-48218492-AAAC-A p.Leu1038del disruptive_inframe_deletion ABCC11 2 83342 2.39975E-5 41671 0 8.2409E-6
16-48218495-C-T p.Leu1038Leu synonymous ABCC11 1 83336 1.19996E-5 41668 0 NA
16-48218498-C-T p.Leu1037Leu synonymous ABCC11 5 83324 6.00067E-5 41662 0 6.25E-4
16-48218499-A-G p.Leu1037Pro missense ABCC11 2 83320 2.40038E-5 41660 0 NA
16-48218509-T-C p.Asn1034Asp missense ABCC11 2 83298 2.40102E-5 41649 0 NA
16-48218511-T-C p.Asn1033Ser missense ABCC11 2 83294 2.40113E-5 41647 0 3.18471E-5
16-48218516-C-T p.Ala1031Ala synonymous ABCC11 3 83278 3.60239E-5 41639 0 9.15948E-5
16-48218517-G-A p.Ala1031Val missense ABCC11 2 83270 2.40183E-5 41635 0 3.18471E-5
16-48218523-G-C p.Thr1029Ser missense ABCC11 1 83252 1.20117E-5 41626 0 NA
16-48220858-A-T c.3071+6T>A splice_region ABCC11 2 83188 2.40419E-5 41594 0 1.59266E-4
16-48220870-A-G p.Ile1022Thr missense ABCC11 1 83218 1.20166E-5 41609 0 1.90451E-4
16-48220874-AG-A p.Phe1021fs frameshift ABCC11 1 83236 1.2014E-5 41618 0 NA
16-48220876-T-C p.Asp1020Gly missense ABCC11 1 83232 1.20146E-5 41616 0 2.78549E-5
16-48220877-C-G p.Asp1020His missense ABCC11 1 83232 1.20146E-5 41616 0 NA
16-48220882-G-A p.Thr1018Ile missense ABCC11 1 83240 1.20135E-5 41620 0 3.97864E-6
16-48220891-T-C p.Tyr1015Cys missense ABCC11 1 83258 1.20109E-5 41629 0 3.29544E-5
16-48220892-A-C p.Tyr1015Asp missense ABCC11 2 83262 2.40206E-5 41631 0 3.29533E-5
16-48220897-T-C p.His1013Arg missense ABCC11 1 83254 1.20114E-5 41627 0 NA
16-48220907-T-G p.Ser1010Arg missense ABCC11 2 83234 2.40286E-5 41617 0 3.97776E-6
16-48220931-T-A p.Ile1002Phe missense ABCC11 1 83198 1.20195E-5 41599 0 8.23696E-6
16-48220951-C-T p.Arg995Gln missense ABCC11 581 83086 0.00699275 41543 14 0.0159049
16-48220952-G-A p.Arg995Trp missense ABCC11 2 83086 2.40714E-5 41543 0 5.96929E-5
16-48220954-C-T p.Ser994Asn missense ABCC11 1 83074 1.20375E-5 41537 0 3.9794E-6
16-48220966-AG-TT p.Leu990Lys missense ABCC11 2 83062 2.40784E-5 41531 0 NA
16-48220982-C-T p.Gly985Ser missense ABCC11 4 83040 4.81696E-5 41520 0 3.18451E-5
16-48220983-G-A p.Ile984Ile synonymous ABCC11 3 83036 3.61289E-5 41518 0 0.00100705
16-48220988-CCTT-C p.Lys982del conservative_inframe_deletion ABCC11 1 83048 1.20412E-5 41524 0 8.23818E-6
16-48220995-G-A p.Phe980Phe synonymous ABCC11 7 83044 8.42927E-5 41522 0 3.18512E-5
16-48220999-A-T p.Met979Lys missense+splice_region ABCC11 1 83056 1.20401E-5 41528 0 NA
16-48221007-T-C c.2934-6A>G splice_region ABCC11 1 83076 1.20372E-5 41538 0 6.36862E-5
16-48221009-G-A c.2934-8C>T splice_region ABCC11 2 83072 2.40755E-5 41536 0 3.98168E-6
16-48221105-T-G c.2933+7A>C splice_region ABCC11 1 83234 1.20143E-5 41617 0 NA
16-48221107-C-A c.2933+5G>T splice_region ABCC11 1 83226 1.20155E-5 41613 0 NA
16-48221127-CA-C p.Cys973fs frameshift ABCC11 1 83268 1.20094E-5 41634 0 NA
16-48221137-T-C p.Met970Val missense ABCC11 613 83268 0.00736177 41634 2 0.015
16-48221138-G-A p.Ile969Ile synonymous ABCC11 1 83276 1.20083E-5 41638 0 NA
16-48221165-T-C p.Pro960Pro synonymous ABCC11 20 83322 2.40033E-4 41661 0 1.07411E-4
16-48221182-C-A p.Val955Phe missense ABCC11 5 83326 6.00053E-5 41663 0 1.91071E-4
16-48221183-A-G p.Ile954Ile synonymous ABCC11 1 83326 1.20011E-5 41663 0 NA
16-48221190-A-G p.Leu952Pro missense ABCC11 1 83312 1.20031E-5 41656 0 4.94307E-5
16-48221192-G-A p.Val951Val synonymous ABCC11 2 83316 2.4005E-5 41658 0 NA
16-48221192-G-C p.Val951Val synonymous ABCC11 1 83316 1.20025E-5 41658 0 NA
16-48221194-C-T p.Val951Ile missense ABCC11 1 83312 1.20031E-5 41656 0 1.59104E-5
16-48221197-C-T p.Ala950Thr missense ABCC11 1 83306 1.20039E-5 41653 0 3.18532E-5
16-48221198-G-A p.Ile949Ile synonymous ABCC11 3 83312 3.60092E-5 41656 0 3.18552E-5
16-48221200-T-C p.Ile949Val missense ABCC11 1 83310 1.20034E-5 41655 0 NA
16-48221204-C-T p.Met947Ile missense ABCC11 2 83308 2.40073E-5 41654 0 3.9775E-6
16-48221216-G-C p.Val943Val synonymous ABCC11 2 83306 2.40079E-5 41653 0 8.24171E-6
16-48221217-A-T p.Val943Asp missense ABCC11 1 83304 1.20042E-5 41652 0 NA
16-48221226-T-C p.Gln940Arg missense ABCC11 1 83288 1.20065E-5 41644 0 NA
16-48221232-G-C p.Ser938* stop_gained ABCC11 120 83274 0.00144103 41637 0 0.00114628
16-48221242-G-A p.Pro935Ser missense ABCC11 1 83268 1.20094E-5 41634 0 NA
16-48221251-G-C p.Gln932Glu missense ABCC11 1 83262 1.20103E-5 41631 0 NA
16-48221256-A-G p.Leu930Pro missense ABCC11 1 83266 1.20097E-5 41633 0 2.48579E-5
16-48221261-T-C p.Glu928Glu synonymous ABCC11 76 83250 9.12913E-4 41625 0 0.00216616
16-48221262-T-C p.Glu928Gly missense ABCC11 1 83250 1.2012E-5 41625 0 NA
16-48221275-C-T p.Ala924Thr missense ABCC11 10 83204 1.20187E-4 41602 0 6.25E-4
16-48221276-G-A p.Phe923Phe synonymous ABCC11 1 83210 1.20178E-5 41605 0 5.0421E-5
16-48221282-G-A p.Asn921Asn synonymous ABCC11 1 83204 1.20187E-5 41602 0 3.18573E-5
16-48221289-A-AGCCG p.Leu919fs frameshift ABCC11 1 83178 1.20224E-5 41589 0 NA
16-48221292-C-T p.Arg918Gln missense ABCC11 1 83152 1.20262E-5 41576 0 3.18735E-5
16-48221293-G-T p.Arg918Arg synonymous ABCC11 5 83150 6.01323E-5 41575 0 3.48008E-5
16-48221293-G-A p.Arg918Trp missense ABCC11 5 83150 6.01323E-5 41575 0 0.00100705
16-48221295-C-T p.Gly917Asp missense ABCC11 1 83146 1.2027E-5 41573 0 1.59387E-5
16-48221306-G-T p.Thr913Thr synonymous ABCC11 1 83038 1.20427E-5 41519 0 9.55779E-5
16-48221313-A-G p.Phe911Ser missense ABCC11 1 82958 1.20543E-5 41479 0 NA
16-48221315-G-T p.Phe910Leu missense ABCC11 1 82954 1.20549E-5 41477 0 6.25E-4
16-48221319-C-T p.Ser909Asn missense ABCC11 41 82914 4.94488E-4 41457 0 0.00194329
16-48221331-C-T p.Arg905His missense ABCC11 32 82676 3.87053E-4 41338 0 2.62724E-4
16-48221332-G-A p.Arg905Cys missense ABCC11 3 82642 3.63012E-5 41321 0 3.46149E-5
16-48226426-C-T c.2706+5G>A splice_region ABCC11 1 83208 1.20181E-5 41604 0 3.9826E-6
16-48226430-C-A c.2706+1G>T splice_donor ABCC11 19 83236 2.28267E-4 41618 0 9.55231E-5
16-48226430-C-T c.2706+1G>A splice_donor ABCC11 3 83234 3.6043E-5 41617 0 3.98184E-6
16-48226436-T-G p.Asn901His missense ABCC11 3 83244 3.60386E-5 41622 0 3.18431E-5
16-48226442-GC-G p.Lys898fs frameshift ABCC11 1 83264 1.201E-5 41632 0 NA
16-48226445-T-C p.Lys898Glu missense ABCC11 3 83272 3.60265E-5 41636 0 8.23669E-6
16-48226449-G-T p.His896Gln missense ABCC11 2 83252 2.40234E-5 41626 0 1.64737E-5
16-48226457-C-T p.Ala894Thr missense ABCC11 1 83228 1.20152E-5 41614 0 3.1839E-5
16-48226458-C-T p.Thr893Thr synonymous ABCC11 49 83218 5.88815E-4 41609 0 0.00100806
16-48226465-G-T p.Ala891Glu missense ABCC11 1 83242 1.20132E-5 41621 0 NA
16-48226471-C-A p.Arg889Met missense ABCC11 3 83248 3.60369E-5 41624 0 NA
16-48226473-C-T p.Thr888Thr synonymous ABCC11 1 83224 1.20158E-5 41612 0 3.97791E-6
16-48226474-G-A p.Thr888Met missense ABCC11 2 83216 2.40338E-5 41608 0 8.23669E-5
16-48226479-C-T p.Lys886Lys synonymous ABCC11 14471 82960 0.174433 41480 1375 0.178606
16-48226479-C-A p.Lys886Asn missense ABCC11 2 83248 2.40246E-5 41624 0 1.19341E-5
16-48226491-C-T p.Gly882Gly synonymous ABCC11 2 83248 2.40246E-5 41624 0 NA
16-48226499-A-C p.Ser880Ala missense ABCC11 4 83276 4.8033E-5 41638 0 1.64731E-5
16-48226502-A-G p.Cys879Arg missense ABCC11 2 83274 2.40171E-5 41637 0 1.19303E-5
16-48226503-G-A p.Val878Val synonymous ABCC11 3 83286 3.60205E-5 41643 0 3.18155E-5
16-48226529-C-T p.Ala870Thr missense ABCC11 3 83296 3.60161E-5 41648 0 5.03525E-4
16-48226530-G-A p.Asn869Asn synonymous ABCC11 5 83304 6.00211E-5 41652 0 2.7841E-5
16-48226530-G-T p.Asn869Lys missense ABCC11 1 83304 1.20042E-5 41652 0 2.47093E-5
16-48226531-T-C p.Asn869Ser missense ABCC11 2 83302 2.4009E-5 41651 0 8.23655E-6
16-48226538-C-T p.Gly867Arg missense ABCC11 17 83308 2.04062E-4 41654 0 1.392E-4
16-48226539-G-A p.Tyr866Tyr synonymous ABCC11 8 83304 9.60338E-5 41652 0 8.23642E-5
16-48226542-C-T p.Val865Val synonymous ABCC11 1 83320 1.20019E-5 41660 0 NA
16-48226550-G-C p.Gln863Glu missense ABCC11 3 83310 3.60101E-5 41655 0 3.29462E-5
16-48226552-T-A p.Tyr862Phe missense ABCC11 1 83304 1.20042E-5 41652 0 NA
16-48226552-TAGA-T p.Phe861del disruptive_inframe_deletion ABCC11 1 83304 1.20042E-5 41652 0 NA
16-48226560-C-A p.Leu859Leu synonymous ABCC11 5 83306 6.00197E-5 41653 0 8.23642E-5
16-48226571-T-C p.Asn856Asp missense ABCC11 2 83278 2.40159E-5 41639 0 NA
16-48226585-C-T p.Gly851Asp missense ABCC11 22 83238 2.64302E-4 41619 0 0.0020141
16-48226595-C-T p.Ala848Thr missense ABCC11 1 83188 1.2021E-5 41594 0 NA
16-48226596-C-T p.Met847Ile missense ABCC11 3 83190 3.6062E-5 41595 0 1.59128E-5
16-48226615-C-T p.Arg841Gln missense ABCC11 1 83030 1.20438E-5 41515 0 8.23954E-6
16-48226616-G-A p.Arg841* stop_gained ABCC11 2 83018 2.40912E-5 41509 0 6.36983E-5
16-48226630-T-C c.2509-2A>G splice_acceptor ABCC11 2 82794 2.41563E-5 41397 0 NA
16-48226635-G-C c.2509-7C>G splice_region ABCC11 1 82668 1.20966E-5 41334 0 3.9868E-6
16-48227788-AC-A c.2508+1delG splice_donor ABCC11 1 82554 1.21133E-5 41277 0 NA
16-48227794-G-A p.Ser835Leu missense ABCC11 2 82764 2.41651E-5 41382 0 1.67771E-5
16-48227812-T-G p.Tyr829Ser missense ABCC11 1 82926 1.20589E-5 41463 0 NA
16-48227826-G-A p.Phe824Phe synonymous ABCC11 1 82974 1.2052E-5 41487 0 9.55049E-4
16-48227838-C-T p.Thr820Thr synonymous ABCC11 1 82982 1.20508E-5 41491 0 1.65533E-5
16-48227839-G-A p.Thr820Met missense ABCC11 14 82984 1.68707E-4 41492 0 6.04864E-4
16-48227841-TAAG-T p.Phe818del disruptive_inframe_deletion ABCC11 3 82972 3.61568E-5 41486 0 NA
16-48227849-C-T p.Val817Ile missense ABCC11 1 82910 1.20613E-5 41455 0 2.38804E-5
16-48227857-A-G p.Val814Ala missense ABCC11 3 82860 3.62056E-5 41430 0 1.99013E-5
16-48227861-C-T p.Val813Met missense ABCC11 11 82808 1.32837E-4 41404 0 6.25E-4
16-48227862-G-A p.Phe812Phe synonymous ABCC11 14325 82144 0.174389 41072 1354 0.187281
16-48227868-G-T p.Phe810Leu missense ABCC11 1 82746 1.20852E-5 41373 0 3.18329E-5
16-48227877-G-A p.Cys807Cys synonymous ABCC11 1 82496 1.21218E-5 41248 0 3.98425E-6
16-48227885-C-T p.Val805Ile missense ABCC11 4 82254 4.86299E-5 41127 0 3.9867E-6
16-48227888-T-C p.Met804Val missense ABCC11 2 82106 2.43588E-5 41053 0 9.55597E-5
16-48227889-G-A p.Tyr803Tyr synonymous ABCC11 181 82028 0.00220656 41014 0 0.00620861
16-48230139-G-A c.2404+4C>T splice_region ABCC11 1 82514 1.21192E-5 41257 0 1.67118E-5
16-48230145-C-T p.Gly801Glu missense+splice_region ABCC11 7 82606 8.47396E-5 41303 0 3.18532E-5
16-48230152-C-T p.Ala799Thr missense ABCC11 1 82628 1.21024E-5 41314 0 NA
16-48230187-G-A p.Ser787Phe missense ABCC11 1 82420 1.2133E-5 41210 0 3.98511E-6
16-48230191-C-T p.Gly786Ser missense ABCC11 1 82326 1.21468E-5 41163 0 7.97226E-6
16-48230198-C-T p.Trp751* stop_gained ABCC11 1 82216 1.21631E-5 41108 0 8.36218E-6
16-48230228-C-T p.Arg741Gln missense ABCC11 3 81378 3.6865E-5 40689 0 6.09639E-5
16-48230229-G-A p.Pro773Leu missense ABCC11 1 81290 1.23016E-5 40645 0 2.61968E-5
16-48231881-C-T c.2314+1G>A splice_donor ABCC11 1 83186 1.20213E-5 41593 0 NA
16-48231885-C-G p.Ala771Pro missense ABCC11 1 83226 1.20155E-5 41613 0 NA
16-48231892-G-A p.Asn768Asn synonymous ABCC11 2 83268 2.40188E-5 41634 0 5.03525E-4
16-48231897-G-A p.Leu767Phe missense ABCC11 1 83284 1.20071E-5 41642 0 1.64807E-5
16-48231911-G-C p.Ser762Cys missense ABCC11 1 83316 1.20025E-5 41658 0 5.56749E-5
16-48231918-C-T p.Ala760Thr missense ABCC11 1 83332 1.20002E-5 41666 0 NA
16-48231921-G-T p.Leu759Met missense ABCC11 2 83340 2.39981E-5 41670 0 NA
16-48231923-G-C p.Ala758Gly missense ABCC11 1 83346 1.19982E-5 41673 0 8.23764E-6
16-48231924-C-A p.Ala758Ser missense ABCC11 1 83348 1.19979E-5 41674 0 4.11882E-5
16-48231935-A-G p.Val754Ala missense ABCC11 2 83362 2.39917E-5 41681 0 NA
16-48231936-C-T p.Val754Ile missense ABCC11 1 83362 1.19959E-5 41681 0 NA
16-48231954-T-C p.Ile748Val missense ABCC11 657 83354 0.00788205 41677 24 0.0183428
16-48231963-T-C p.Thr745Ala missense ABCC11 4 83356 4.79869E-5 41678 0 8.2371E-6
16-48231964-G-A p.Asp744Asp synonymous ABCC11 1 83354 1.1997E-5 41677 0 1.98832E-5
16-48231970-C-A p.Leu742Phe missense ABCC11 14 83352 1.67962E-4 41676 0 2.5468E-4
16-48231970-C-T p.Leu742Leu synonymous ABCC11 1 83352 1.19973E-5 41676 0 4.11862E-5
16-48231974-A-G p.Met741Thr missense ABCC11 1 83350 1.19976E-5 41675 0 8.2371E-6
16-48232050-AC-A c.2217+1delG splice_donor ABCC11 2 83364 2.39912E-5 41682 0 NA
16-48232052-C-T p.Ser739Ser splice_region+synonymous ABCC11 4 83366 4.79812E-5 41683 0 9.55597E-5
16-48232053-G-A p.Ser739Leu missense+splice_region ABCC11 8 83364 9.59647E-5 41682 0 1.59256E-4
16-48232057-T-C p.Thr738Ala missense ABCC11 1 83372 1.19944E-5 41686 0 NA
16-48232064-C-T p.Lys735Lys synonymous ABCC11 2 83362 2.39917E-5 41681 0 3.97722E-6
16-48232065-T-C p.Lys735Arg missense ABCC11 128 83362 0.00153547 41681 1 0.00222958
16-48232067-G-A p.His734His synonymous ABCC11 2 83360 2.39923E-5 41680 0 8.2371E-6
16-48232079-G-A p.Ile730Ile synonymous ABCC11 1 83356 1.19967E-5 41678 0 3.97716E-6
16-48232084-GT-G p.Gln728fs frameshift ABCC11 3 83354 3.59911E-5 41677 0 3.57933E-5
16-48232104-T-A p.Lys722Ile missense ABCC11 8 83340 9.59923E-5 41670 0 8.23683E-6
16-48232145-C-T p.Gly708Gly synonymous ABCC11 5 83288 6.00327E-5 41644 0 8.23886E-6
16-48232148-A-G p.Asn707Asn synonymous ABCC11 42 83286 5.04286E-4 41643 1 0.00100705
16-48232162-T-A p.Ile703Phe missense ABCC11 4 83282 4.80296E-5 41641 0 6.25E-4
16-48232163-G-A p.Ile702Ile synonymous ABCC11 8 83278 9.60638E-5 41639 0 6.36943E-5
16-48232170-C-G p.Gly700Ala missense ABCC11 3 83256 3.60334E-5 41628 0 NA
16-48232171-C-T p.Gly700Ser missense ABCC11 1 83254 1.20114E-5 41627 0 NA
16-48232174-A-G p.Cys699Arg missense ABCC11 1 83248 1.20123E-5 41624 0 1.64902E-5
16-48232179-T-C p.Glu697Gly missense ABCC11 142 83230 0.00170612 41615 0 0.00251762
16-48232185-T-C p.Tyr695Cys missense+splice_region ABCC11 69 83198 8.29347E-4 41599 0 0.0040282
16-48232191-A-G c.2083-5T>C splice_region ABCC11 2 83176 2.40454E-5 41588 0 8.26078E-6
16-48234186-C-A c.2082+1G>T splice_donor ABCC11 1 83144 1.20273E-5 41572 0 NA
16-48234196-G-A p.His691His synonymous ABCC11 1 83196 1.20198E-5 41598 0 NA
16-48234198-G-A p.His691Tyr missense ABCC11 12 83206 1.4422E-4 41603 0 4.62825E-4
16-48234210-C-T p.Val687Ile missense ABCC11 250 83242 0.00300329 41621 2 0.00468123
16-48234211-G-A p.Val686Val synonymous ABCC11 1 83262 1.20103E-5 41631 0 4.94829E-5
16-48234213-C-A p.Val686Phe missense ABCC11 1 83272 1.20088E-5 41636 0 3.97763E-6
16-48234214-C-T p.Thr685Thr synonymous ABCC11 594 83284 0.00713222 41642 15 0.0166539
16-48234215-G-A p.Thr685Met missense ABCC11 9 83302 1.08041E-4 41651 0 3.82141E-4
16-48234220-C-T p.Gly683Gly synonymous ABCC11 1 83324 1.20013E-5 41662 0 NA
16-48234224-C-A p.Arg682Met missense ABCC11 1 83328 1.20008E-5 41664 0 NA
16-48234224-CT-C p.Arg682fs frameshift ABCC11 1 83328 1.20008E-5 41664 0 3.97722E-6
16-48234233-T-C p.Lys679Arg missense ABCC11 1 83354 1.1997E-5 41677 0 NA
16-48234237-T-G p.Lys678Gln missense ABCC11 1 83356 1.19967E-5 41678 0 NA
16-48234243-A-C p.Cys676Gly missense ABCC11 1 83358 1.19964E-5 41679 0 3.1904E-5
16-48234249-C-CA p.Glu674fs frameshift ABCC11 1 83366 1.19953E-5 41683 0 NA
16-48234251-A-G p.Phe673Ser missense ABCC11 1 83366 1.19953E-5 41683 0 2.47129E-5
16-48234267-C-T p.Val668Met missense ABCC11 2 83352 2.39946E-5 41676 0 3.18129E-5
16-48234268-G-A p.His667His synonymous ABCC11 4 83350 4.79904E-5 41675 0 0.00108266
16-48234270-G-A p.His667Tyr missense ABCC11 2 83352 2.39946E-5 41676 0 NA
16-48234274-G-A p.Asp665Asp synonymous ABCC11 11 83336 1.31996E-4 41668 0 1.31815E-4
16-48234282-C-A p.Ala663Ser missense ABCC11 2 83340 2.39981E-5 41670 0 1.19301E-5
16-48234285-A-AC p.Ser662fs frameshift ABCC11 5 83336 5.99981E-5 41668 0 7.4151E-5
16-48234286-CAG-C p.Leu661fs frameshift ABCC11 1 83334 1.19999E-5 41667 0 7.95431E-6
16-48234290-G-A p.Pro660Leu missense ABCC11 1 83332 1.20002E-5 41666 0 8.23968E-6
16-48234295-G-A p.Asp658Asp synonymous ABCC11 1 83314 1.20028E-5 41657 0 4.94405E-5
16-48234304-G-C p.Tyr655* stop_gained ABCC11 1 83314 1.20028E-5 41657 0 1.64818E-5
16-48234314-C-T p.Arg652His missense ABCC11 2 83300 2.40096E-5 41650 0 7.41962E-5
16-48234316-G-A p.Asp651Asp synonymous ABCC11 22 83286 2.6415E-4 41643 1 0.00251762
16-48234327-C-T p.Val648Ile missense ABCC11 1835 83178 0.0220611 41589 107 0.0454448
16-48234330-C-T p.Ala647Thr missense ABCC11 12 83154 1.44311E-4 41577 0 6.52547E-4
16-48234331-G-A p.Arg646Arg synonymous ABCC11 13 83128 1.56385E-4 41564 0 5.41505E-4
16-48234332-C-T p.Arg646His missense ABCC11 4 83112 4.81278E-5 41556 0 6.25E-4
16-48234333-G-A p.Arg646Cys missense ABCC11 2 83076 2.40743E-5 41538 0 3.98045E-5
16-48234357-G-GC p.Gln638fs frameshift ABCC11 2 82530 2.42336E-5 41265 0 NA
16-48234359-C-T p.Gly637Glu missense ABCC11 10 82454 1.2128E-4 41227 0 8.77438E-5
16-48234362-C-A p.Gly636Val missense ABCC11 2 82418 2.42665E-5 41209 0 3.1841E-5
16-48234362-C-T p.Gly636Glu missense ABCC11 1 82418 1.21333E-5 41209 0 3.34169E-5
16-48234365-G-A p.Ser635Phe missense ABCC11 5 82344 6.07209E-5 41172 0 8.3842E-6
16-48234375-G-A p.Leu632Phe missense ABCC11 1 81968 1.21999E-5 40984 0 NA
16-48234380-C-T p.Arg630Gln missense ABCC11 1 81758 1.22312E-5 40879 0 2.00357E-5
16-48234381-G-A p.Arg630Trp missense ABCC11 410 81556 0.00502722 40778 0 0.00553877
16-48234381-G-T p.Arg630Arg synonymous ABCC11 4 81580 4.90316E-5 40790 0 8.63826E-6
16-48234384-C-T p.Glu629Lys missense ABCC11 1 81626 1.2251E-5 40813 0 NA
16-48237131-C-T c.1878+8G>A splice_region ABCC11 1 81024 1.2342E-5 40512 0 1.10843E-5
16-48237134-C-T c.1878+5G>A splice_region ABCC11 1 81072 1.23347E-5 40536 0 NA
16-48237138-C-T c.1878+1G>A splice_donor ABCC11 8 81110 9.86315E-5 40555 0 6.25E-4
16-48237141-C-T p.Glu626Lys missense+splice_region ABCC11 1 81148 1.23232E-5 40574 0 1.11632E-4
16-48237157-G-C p.Pro620Pro synonymous ABCC11 2 81390 2.4573E-5 40695 0 1.01104E-5
16-48237167-TC-T p.Glu617fs frameshift ABCC11 2 81390 2.4573E-5 40695 0 1.48873E-5
16-48237176-C-T p.Arg614Gln missense ABCC11 10 81388 1.22868E-4 40694 0 1.5867E-4
16-48237177-G-A p.Arg614Trp missense ABCC11 4 81386 4.91485E-5 40693 0 6.37105E-5
16-48237185-G-A p.Ser611Phe missense ABCC11 2 81362 2.45815E-5 40681 0 NA
16-48237193-G-A p.His608His synonymous ABCC11 1 81286 1.23022E-5 40643 0 4.98912E-6
16-48237199-C-T p.Val606Val synonymous ABCC11 1 81206 1.23144E-5 40603 0 NA
16-48237207-G-A p.Leu604Phe missense ABCC11 1 81130 1.23259E-5 40565 0 NA
16-48239318-G-A c.1805+6C>T splice_region ABCC11 1 83290 1.20062E-5 41645 0 NA
16-48239324-C-CG p.Arg602fs frameshift ABCC11 1 83268 1.20094E-5 41634 0 NA
16-48239324-C-T p.Arg602Gln missense+splice_region ABCC11 12 83268 1.44113E-4 41634 0 1.59286E-4
16-48239325-G-A p.Arg602* stop_gained ABCC11 8 83256 9.60892E-5 41628 0 0.001875
16-48239340-C-T p.Ala597Thr missense ABCC11 2 83224 2.40315E-5 41612 0 3.29538E-5
16-48239341-G-A p.Gly596Gly synonymous ABCC11 6 83220 7.20981E-5 41610 1 6.59065E-5
16-48239368-G-A p.Asn587Asn synonymous ABCC11 1 83186 1.20213E-5 41593 0 1.64783E-5
16-48239369-T-C p.Asn587Ser missense ABCC11 1 83186 1.20213E-5 41593 0 8.23927E-6
16-48239372-C-T p.Gly586Glu missense ABCC11 1 83168 1.20239E-5 41584 0 NA
16-48239373-C-T p.Gly586Arg missense ABCC11 2 83160 2.405E-5 41580 0 4.94372E-5
16-48239374-G-A p.Ser585Ser synonymous ABCC11 1 83136 1.20285E-5 41568 0 5.03525E-4
16-48239377-G-A p.Val584Val synonymous ABCC11 1 83146 1.2027E-5 41573 0 3.97804E-6
16-48239379-C-T p.Val584Ile missense ABCC11 13 83132 1.56378E-4 41566 0 1.03432E-4
16-48239380-G-A p.Ile583Ile synonymous ABCC11 1 83128 1.20296E-5 41564 0 8.24022E-6
16-48239406-C-T p.Ala575Thr missense ABCC11 6 82968 7.2317E-5 41484 0 0.0020141
16-48239411-C-A p.Ser573Ile missense ABCC11 1 82924 1.20592E-5 41462 0 NA
16-48239421-C-T p.Val570Met missense ABCC11 1 82764 1.20825E-5 41382 0 NA
16-48239427-C-T p.Val568Met missense ABCC11 1 82642 1.21004E-5 41321 0 7.4374E-5
16-48239428-C-T p.Ser567Ser synonymous ABCC11 5 82588 6.05415E-5 41294 0 6.25E-4
16-48239429-G-A p.Ser567Leu missense ABCC11 17 82528 2.05991E-4 41264 0 8.35152E-4
16-48239436-C-T p.Glu565Lys missense ABCC11 4 82290 4.86086E-5 41145 0 4.13818E-5
16-48239437-G-A p.Leu564Leu synonymous ABCC11 3 82194 3.6499E-5 41097 0 3.31082E-5
16-48239442-A-T p.Leu563Met missense ABCC11 2 81978 2.43968E-5 40989 0 NA
16-48239443-G-T p.His562Gln missense ABCC11 40 81960 4.88043E-4 40980 0 5.09944E-4
16-48239445-G-A p.His562Tyr missense ABCC11 1 81834 1.22199E-5 40917 0 1.65931E-5
16-48239447-A-G p.Met561Thr missense+splice_region ABCC11 2 81732 2.44702E-5 40866 0 NA
16-48239448-T-C p.Met561Val missense+splice_region ABCC11 1 81632 1.22501E-5 40816 0 8.29738E-6
16-48239452-C-T c.1681-4G>A splice_region ABCC11 16 81234 1.96962E-4 40617 0 9.56206E-4
16-48242336-C-G p.Glu560Asp missense+splice_region ABCC11 1 83014 1.20462E-5 41507 0 NA
16-48242338-C-A p.Glu560* stop_gained ABCC11 1 83040 1.20424E-5 41520 0 NA
16-48242348-G-T p.Ala556Ala synonymous ABCC11 1 83110 1.20322E-5 41555 0 2.47464E-5
16-48242354-C-A p.Leu554Phe missense ABCC11 1 83148 1.20267E-5 41574 0 NA
16-48242359-G-A p.Leu553Leu synonymous ABCC11 492 83156 0.00591659 41578 14 0.0104558
16-48242359-GG-AC p.SerLeu552ArgLeu missense ABCC11 1 83170 1.20236E-5 41585 0 NA
16-48242363-G-C p.Ser551Arg missense ABCC11 2 83180 2.40442E-5 41590 0 3.97779E-6
16-48242374-T-A p.Ser548Cys missense ABCC11 1 83176 1.20227E-5 41588 0 1.276E-4
16-48242378-C-T p.Thr546Thr synonymous ABCC11 1 83204 1.20187E-5 41602 0 5.7731E-5
16-48242379-G-A p.Thr546Met missense ABCC11 5411 83008 0.0651865 41504 260 0.118328
16-48242382-T-C p.Asn545Ser missense ABCC11 3 83202 3.60568E-5 41601 0 1.15454E-4
16-48242386-C-T p.Gly544Ser missense ABCC11 3 83186 3.60638E-5 41593 0 4.12364E-5
16-48242388-C-T p.Cys543Tyr missense ABCC11 4 83202 4.80758E-5 41601 0 NA
16-48242390-G-T p.Val542Val synonymous ABCC11 1 83204 1.20187E-5 41602 0 NA
16-48242393-C-A p.Gly541Gly synonymous ABCC11 2 83196 2.40396E-5 41598 0 3.18613E-5
16-48242400-A-G p.Met539Thr missense ABCC11 1 83188 1.2021E-5 41594 0 8.25028E-6
16-48242411-C-A c.1609-4G>T splice_region ABCC11 1 83120 1.20308E-5 41560 0 3.18532E-5
16-48244854-G-A c.1608+5C>T splice_region ABCC11 6 82866 7.24061E-5 41433 0 8.26132E-6
16-48244854-G-T c.1608+5C>A splice_region ABCC11 1 82866 1.20677E-5 41433 0 NA
16-48244876-T-G p.Asn531His missense ABCC11 1 83056 1.20401E-5 41528 0 NA
16-48244882-T-C p.Lys529Glu missense ABCC11 21 83124 2.52635E-4 41562 0 6.05443E-4
16-48244885-G-A p.His528Tyr missense ABCC11 80 83174 9.61839E-4 41587 0 0.00151057
16-48244904-G-C p.Asn521Lys missense ABCC11 32 83306 3.84126E-4 41653 0 4.14145E-4
16-48244908-C-A p.Gly520Val missense ABCC11 1 83308 1.20036E-5 41654 0 3.18492E-5
16-48244922-C-T p.Gly515Gly synonymous ABCC11 2 83330 2.4001E-5 41665 1 NA
16-48244924-C-T p.Gly515Arg missense ABCC11 1 83330 1.20005E-5 41665 0 6.59076E-5
16-48244925-G-A p.Leu514Leu synonymous ABCC11 5 83326 6.00053E-5 41663 0 3.29538E-5
16-48244927-G-A p.Leu514Phe missense ABCC11 1 83330 1.20005E-5 41665 0 NA
16-48244963-G-A p.His502Tyr missense ABCC11 1 83344 1.19985E-5 41672 0 1.193E-5
16-48244964-C-T p.Gly501Gly synonymous ABCC11 1 83346 1.19982E-5 41673 0 3.97652E-6
16-48244966-C-A p.Gly501Trp missense ABCC11 2 83348 2.39958E-5 41674 0 NA
16-48244967-G-A p.Asn500Asn synonymous ABCC11 2 83348 2.39958E-5 41674 0 1.19303E-4
16-48244970-C-T p.Arg499Arg synonymous ABCC11 9 83346 1.07984E-4 41673 0 0.00100705
16-48244979-C-T p.Glu496Glu synonymous ABCC11 6 83350 7.19856E-5 41675 0 5.03525E-4
16-48244987-C-T p.Ala494Thr missense ABCC11 2 83354 2.3994E-5 41677 0 2.47101E-5
16-48244992-T-C p.Asn492Ser missense ABCC11 1 83356 1.19967E-5 41678 0 4.94193E-5
16-48244996-C-T p.Val491Ile missense ABCC11 515 83354 0.00617847 41677 14 0.0106688
16-48244997-G-A p.Ile490Ile synonymous ABCC11 1 83356 1.19967E-5 41678 0 6.76041E-5
16-48245002-C-T p.Gly489Arg missense ABCC11 3 83364 3.59868E-5 41682 0 1.07368E-4
16-48245004-G-A p.Pro488Leu missense ABCC11 2 83360 2.39923E-5 41680 0 3.97649E-6
16-48245018-C-T p.Trp483* stop_gained ABCC11 3 83362 3.59876E-5 41681 0 7.95317E-6
16-48245020-A-G p.Trp483Arg missense ABCC11 18 83368 2.1591E-4 41684 0 0.00372659
16-48245024-C-T p.Leu481Leu synonymous ABCC11 1 83364 1.19956E-5 41682 0 3.18451E-5
16-48245026-A-T p.Leu481Met missense ABCC11 45 83364 5.39801E-4 41682 0 0.00125
16-48245027-G-C p.Thr480Thr synonymous ABCC11 1 83368 1.1995E-5 41684 0 3.97659E-6
16-48245029-T-G p.Thr480Pro missense ABCC11 2 83364 2.39912E-5 41682 0 3.18132E-5
16-48245032-C-T p.Ala479Thr missense ABCC11 8 83356 9.59739E-5 41678 0 6.37024E-5
16-48245054-G-T p.Ser471Arg missense ABCC11 2 83348 2.39958E-5 41674 0 0.00100705
16-48245071-T-C p.Thr466Ala missense ABCC11 4 83308 4.80146E-5 41654 0 6.76385E-5
16-48245081-G-T p.Phe462Leu missense ABCC11 3 83272 3.60265E-5 41636 0 1.27429E-4
16-48245087-AGGGC-A p.Ser459fs frameshift ABCC11 1 83258 1.20109E-5 41629 0 8.30689E-6
16-48245093-C-G p.Glu458Asp missense ABCC11 5 83196 6.0099E-5 41598 0 3.99017E-5
16-48245094-T-A p.Glu458Val missense ABCC11 2 83188 2.40419E-5 41594 0 3.99039E-6
16-48245096-C-T p.Gln457Gln synonymous ABCC11 78 83162 9.37928E-4 41581 0 0.00125156
16-48245097-TG-T p.Gln457fs frameshift ABCC11 9 83154 1.08233E-4 41577 0 7.18919E-5
16-48245098-G-A p.Gln457* stop_gained ABCC11 1 83138 1.20282E-5 41569 0 NA
16-48245104-A-C p.Phe455Val missense ABCC11 1 83122 1.20305E-5 41561 0 1.67676E-5
16-48245105-A-G p.Phe454Phe synonymous ABCC11 3 83114 3.6095E-5 41557 0 1.09178E-4
16-48245110-T-A p.Lys453* stop_gained ABCC11 4 83126 4.81197E-5 41563 0 6.36943E-5
16-48245111-C-CATTTTACTCATATCACTTATCTCCATCTGATA c.1357-2_1357-1insTATCAGATGGAGATAAGTGATATGAGTAAAAT splice_acceptor ABCC11 1 83120 1.20308E-5 41560 0 NA
16-48245114-T-C c.1357-4A>G splice_region ABCC11 1 83090 1.20351E-5 41545 0 8.42971E-6
16-48247366-C-T p.Val448Val synonymous ABCC11 6 82968 7.2317E-5 41484 0 NA
16-48247384-C-T p.Thr442Thr synonymous ABCC11 1 83054 1.20404E-5 41527 0 3.18329E-5
16-48247385-G-A p.Thr442Met missense ABCC11 1 83056 1.20401E-5 41528 0 3.6086E-5
16-48247391-C-T p.Gly440Asp missense ABCC11 25 83090 3.00879E-4 41545 0 2.72336E-4
16-48247391-C-A p.Gly440Val missense ABCC11 5 83088 6.01772E-5 41544 0 6.3674E-5
16-48247413-A-G p.Phe433Leu missense ABCC11 4 83090 4.81406E-5 41545 0 8.26474E-6
16-48247427-C-T p.Arg428Gln missense ABCC11 3 82974 3.61559E-5 41487 0 3.18471E-5
16-48247428-G-A p.Arg428Trp missense ABCC11 1 82962 1.20537E-5 41481 0 6.3678E-5
16-48247442-G-A p.Ser423Phe missense ABCC11 1 82876 1.20662E-5 41438 0 4.03675E-6
16-48247445-G-A p.Ala422Val missense ABCC11 1 82824 1.20738E-5 41412 0 3.1839E-5
16-48247452-T-C p.Met420Val missense ABCC11 2 82758 2.41668E-5 41379 0 1.2588E-4
16-48247452-T-G p.Met420Leu missense ABCC11 1 82758 1.20834E-5 41379 0 NA
16-48247461-C-T p.Ala417Thr missense+splice_region ABCC11 1 82550 1.21139E-5 41275 0 NA
16-48248792-C-G p.Met416Ile missense+splice_region ABCC11 1 83296 1.20054E-5 41648 0 5.04032E-4
16-48248798-C-T p.Ala414Ala synonymous ABCC11 269 83276 0.00323022 41638 2 0.00691303
16-48248799-G-A p.Ala414Val missense ABCC11 7 83284 8.40498E-5 41642 0 6.59402E-5
16-48248801-T-G p.Thr413Thr synonymous ABCC11 1 83286 1.20068E-5 41643 0 NA
16-48248811-A-C p.Leu410Arg missense ABCC11 3 83284 3.60213E-5 41642 0 3.18431E-5
16-48248827-G-A p.His405Tyr missense ABCC11 1 83282 1.20074E-5 41641 0 NA
16-48248830-T-G p.Ile404Leu missense ABCC11 1 83276 1.20083E-5 41638 0 1.64875E-5
16-48248836-C-G p.Val402Leu missense ABCC11 1 83252 1.20117E-5 41626 0 1.64886E-5
16-48248841-ACCGCTGTGG-A p.Ala397_Ala399del disruptive_inframe_deletion ABCC11 1 83220 1.20163E-5 41610 0 8.24429E-6
16-48248843-C-T p.Ala399Ala synonymous ABCC11 40 83216 4.80677E-4 41608 0 0.00100705
16-48248844-G-A p.Ala399Val missense ABCC11 4 83210 4.80711E-5 41605 0 9.55657E-5
16-48248851-C-T p.Ala397Thr missense ABCC11 3 83198 3.60586E-5 41599 0 3.97918E-6
16-48248869-A-G p.Phe391Leu missense ABCC11 1 83148 1.20267E-5 41574 0 8.24606E-6
16-48248874-G-T p.Thr389Asn missense ABCC11 5 83138 6.0141E-5 41569 0 3.18451E-5
16-48248874-G-C p.Thr389Ser missense ABCC11 3 83138 3.60846E-5 41569 0 3.98064E-6
16-48248880-C-T p.Ser387Asn missense ABCC11 1 83138 1.20282E-5 41569 0 3.58275E-5
16-48248890-T-A p.Ser384Cys missense ABCC11 2 83120 2.40616E-5 41560 0 3.98115E-6
16-48248892-T-C p.Gln383Arg missense ABCC11 1 83126 1.20299E-5 41563 0 NA
16-48248902-C-T p.Gly380Arg missense ABCC11 3 83158 3.60759E-5 41579 0 6.25E-4
16-48248903-G-A p.Cys379Cys synonymous ABCC11 6 83156 7.21535E-5 41578 0 4.94992E-5
16-48248905-A-G p.Cys379Arg missense ABCC11 4 83174 4.8092E-5 41587 0 NA
16-48248914-A-G p.Leu376Leu synonymous ABCC11 6 83188 7.21258E-5 41594 0 9.07306E-5
16-48248918-T-C p.Lys374Lys synonymous ABCC11 15847 83000 0.190928 41500 1663 0.252769
16-48248923-T-C p.Arg373Gly missense ABCC11 4 83210 4.80711E-5 41605 0 3.98435E-6
16-48249103-C-T c.1099+5G>A splice_region ABCC11 1 83240 1.20135E-5 41620 0 8.32972E-6
16-48249112-A-G p.Ile365Ile synonymous ABCC11 1 83248 1.20123E-5 41624 0 NA
16-48249120-T-G p.Lys363Gln missense ABCC11 1 83222 1.20161E-5 41611 0 3.98632E-6
16-48249123-C-T p.Ala362Thr missense ABCC11 2 83208 2.40361E-5 41604 0 3.18817E-5
16-48249125-A-C p.Phe361Cys missense ABCC11 1 83216 1.20169E-5 41608 0 NA
16-48249131-T-C p.Lys359Arg missense ABCC11 16 83198 1.92312E-4 41599 0 2.31164E-4
16-48249140-G-A p.Thr356Ile missense ABCC11 1 83184 1.20215E-5 41592 0 NA
16-48249145-C-T p.Met354Ile missense ABCC11 5 83146 6.01352E-5 41573 0 3.87539E-4
16-48249181-G-A p.Thr342Thr synonymous ABCC11 2 83140 2.40558E-5 41570 0 NA
16-48249188-C-T p.Arg340His missense ABCC11 6 83130 7.21761E-5 41565 0 1.86983E-4
16-48249194-C-T p.Arg338His missense ABCC11 1 83138 1.20282E-5 41569 0 8.23845E-6
16-48249194-C-A p.Arg338Leu missense ABCC11 3 83138 3.60846E-5 41569 0 1.15376E-4
16-48249195-G-A p.Arg338Cys missense ABCC11 1 83142 1.20276E-5 41571 0 3.97874E-6
16-48249202-G-A p.Ser335Ser synonymous ABCC11 3 83134 3.60863E-5 41567 0 3.18431E-5
16-48249207-C-T p.Val334Ile missense ABCC11 1 83128 1.20296E-5 41564 0 7.95678E-6
16-48249215-G-A p.Thr331Ile missense ABCC11 31 83142 3.72856E-4 41571 0 0.00252016
16-48249216-T-C p.Thr331Ala missense ABCC11 1 83136 1.20285E-5 41568 0 NA
16-48249225-G-T p.Gln328Lys missense ABCC11 2 83150 2.40529E-5 41575 0 NA
16-48249228-C-G p.Ala327Pro missense ABCC11 1 83132 1.20291E-5 41566 0 1.98981E-5
16-48249228-C-A p.Ala327Ser missense ABCC11 3 83132 3.60872E-5 41566 0 3.18431E-5
16-48249234-C-T p.Val325Met missense ABCC11 2 83130 2.40587E-5 41565 0 NA
16-48249234-C-G p.Val325Leu missense ABCC11 1 83130 1.20294E-5 41565 0 3.1837E-5
16-48249248-A-G p.Met320Thr missense ABCC11 1 83084 1.2036E-5 41542 0 3.18431E-5
16-48250019-C-T c.951+6G>A splice_region ABCC11 1 82618 1.21039E-5 41309 0 NA
16-48250024-C-T c.951+1G>A splice_donor ABCC11 3 82702 3.62748E-5 41351 0 3.1839E-5
16-48250025-C-T p.Ala317Ala splice_region+synonymous ABCC11 4 82714 4.83594E-5 41357 0 6.36862E-5
16-48250026-G-T p.Ala317Glu missense+splice_region ABCC11 9441 82078 0.115025 41039 652 0.149499
16-48250031-T-C p.Pro315Pro synonymous ABCC11 1973 82696 0.0238585 41348 136 0.0533916
16-48250033-G-A p.Pro315Ser missense ABCC11 1 82860 1.20685E-5 41430 0 6.25E-4
16-48250033-G-C p.Pro315Ala missense ABCC11 2 82860 2.41371E-5 41430 0 4.96705E-5
16-48250038-A-G p.Val313Ala missense ABCC11 1 82884 1.20651E-5 41442 0 NA
16-48250052-T-A p.Leu308Phe missense ABCC11 1 82996 1.20488E-5 41498 0 3.98143E-6
16-48250054-A-C p.Leu308Val missense ABCC11 1 83016 1.20459E-5 41508 0 NA
16-48250057-T-C p.Ile307Val missense ABCC11 2 83022 2.409E-5 41511 0 8.26802E-6
16-48250063-T-C p.Ile305Val missense ABCC11 1 83066 1.20386E-5 41533 0 8.26679E-6
16-48250072-T-C p.Thr302Ala missense ABCC11 1 83112 1.2032E-5 41556 0 NA
16-48250102-T-C p.Ser292Gly missense ABCC11 1 83206 1.20184E-5 41603 0 NA
16-48250102-T-G p.Ser292Arg missense ABCC11 3 83206 3.60551E-5 41603 0 3.97883E-6
16-48250109-G-A p.Val289Val synonymous ABCC11 3 83202 3.60568E-5 41601 0 3.97921E-6
16-48250113-A-G p.Leu288Pro missense ABCC11 1 83188 1.2021E-5 41594 0 3.97924E-6
16-48250118-T-A p.Ala286Ala synonymous ABCC11 1 83176 1.20227E-5 41588 0 4.96073E-5
16-48250120-C-T p.Ala286Thr missense ABCC11 15 83160 1.80375E-4 41580 0 0.00125
16-48250121-G-A p.Cys285Cys synonymous ABCC11 6 83162 7.21483E-5 41581 0 1.27364E-4
16-48250121-G-C p.Cys285Trp missense ABCC11 3 83162 3.60742E-5 41581 0 1.65382E-5
16-48250121-G-T p.Cys285* stop_gained ABCC11 1 83162 1.20247E-5 41581 0 2.48073E-5
16-48250140-G-A p.Pro279Leu missense ABCC11 96 83092 0.00115535 41546 0 0.00121089
16-48250141-G-C p.Pro279Ala missense ABCC11 1 83086 1.20357E-5 41543 0 7.9628E-6
16-48250144-C-A p.Gly278* stop_gained ABCC11 12 83064 1.44467E-4 41532 0 3.50408E-4
16-48250146-T-C p.Tyr277Cys missense ABCC11 1 83038 1.20427E-5 41519 0 6.25E-4
16-48250153-C-A p.Val275Leu missense ABCC11 13 82968 1.56687E-4 41484 0 2.9011E-4
16-48250159-C-T p.Glu273Lys missense ABCC11 5 82912 6.03049E-5 41456 0 3.18492E-5
16-48250161-A-C p.Phe272Cys missense ABCC11 13 82866 1.5688E-4 41433 0 6.37024E-5
16-48250174-C-T p.Val268Ile missense ABCC11 1 82578 1.21098E-5 41289 0 NA
16-48250180-C-T p.Gly266Ser missense ABCC11 2 82372 2.42801E-5 41186 0 2.49285E-5
16-48250181-G-A p.Thr265Thr synonymous ABCC11 2 82330 2.42925E-5 41165 0 5.03525E-4
16-48250190-G-A p.Ser262Ser synonymous ABCC11 2 82012 2.43867E-5 41006 0 3.18512E-5
16-48250202-C-G c.778-4G>C splice_region ABCC11 6 81358 7.37481E-5 40679 0 6.25E-4
16-48256508-C-T c.777+1G>A splice_donor ABCC11 3 82940 3.61707E-5 41470 0 3.9807E-6
16-48256514-C-T p.Gly258Arg missense ABCC11 1 83008 1.2047E-5 41504 0 1.19386E-5
16-48256523-T-G p.Ile255Leu missense ABCC11 2 83118 2.40622E-5 41559 0 1.98924E-5
16-48256523-T-C p.Ile255Val missense ABCC11 1 83118 1.20311E-5 41559 0 NA
16-48256528-A-G p.Ile253Thr missense ABCC11 1 83156 1.20256E-5 41578 0 8.24389E-6
16-48256542-T-C p.Gln248Gln synonymous ABCC11 1 83240 1.20135E-5 41620 0 3.18674E-5
16-48256545-G-A p.Ile247Ile synonymous ABCC11 1 83238 1.20137E-5 41619 0 3.18593E-5
16-48256552-T-A p.Lys245Met missense ABCC11 2 83252 2.40234E-5 41626 0 4.11929E-5
16-48256560-G-A p.Ala242Ala synonymous ABCC11 1 83284 1.20071E-5 41642 0 NA
16-48256577-C-G p.Ala237Pro missense ABCC11 2 83302 2.4009E-5 41651 0 NA
16-48256582-C-T p.Arg235Gln missense ABCC11 2 83302 2.4009E-5 41651 0 3.18451E-5
16-48256582-C-A p.Arg235Leu missense ABCC11 11 83302 1.3205E-4 41651 0 6.28321E-4
16-48256583-G-T p.Arg235Arg synonymous ABCC11 17 83310 2.04057E-4 41655 0 3.50363E-4
16-48256583-G-A p.Arg235* stop_gained ABCC11 6 83310 7.20202E-5 41655 0 0.00100705
16-48256587-C-T p.Arg233Arg synonymous ABCC11 1 83318 1.20022E-5 41659 0 NA
16-48256600-CGT-TGC p.GlnArg228GlnHis missense ABCC11 26 83322 3.12042E-4 41661 0 NA
16-48256600-C-T p.Arg229His missense ABCC11 4 83322 4.80065E-5 41661 0 4.77707E-4
16-48256601-G-A p.Arg229Cys missense ABCC11 3 83322 3.60049E-5 41661 0 3.18431E-5
16-48256602-T-C p.Gln228Gln synonymous ABCC11 10041 83218 0.120659 41609 762 0.15353
16-48256606-T-C p.Asn227Ser missense ABCC11 2 83318 2.40044E-5 41659 0 NA
16-48256612-A-G p.Ile225Thr missense ABCC11 2 83328 2.40015E-5 41664 0 NA
16-48256613-T-A p.Ile225Phe missense ABCC11 8 83330 9.60038E-5 41665 0 1.91095E-4
16-48256615-C-T p.Trp224* stop_gained ABCC11 1 83326 1.20011E-5 41663 0 3.18471E-5
16-48256623-G-A p.Ser221Ser synonymous ABCC11 2 83328 2.40015E-5 41664 0 1.64742E-5
16-48256632-C-G p.Leu218Leu synonymous ABCC11 94 83334 0.00112799 41667 3 0.00575811
16-48256645-C-A p.Cys214Phe missense ABCC11 1 83336 1.19996E-5 41668 0 3.97668E-6
16-48256649-C-T p.Glu213Lys missense ABCC11 3 83332 3.60006E-5 41666 0 9.56023E-5
16-48256650-G-A p.Ser212Ser synonymous ABCC11 3 83332 3.60006E-5 41666 0 1.48275E-4
16-48256664-C-G p.Ala208Pro missense ABCC11 1 83330 1.20005E-5 41665 0 8.23778E-6
16-48256674-T-C p.Gly204Gly synonymous ABCC11 1 83326 1.20011E-5 41663 0 NA
16-48256682-C-A p.Gly202* stop_gained ABCC11 1 83318 1.20022E-5 41659 0 NA
16-48256696-C-T p.Gly197Glu missense ABCC11 1 83306 1.20039E-5 41653 0 1.1932E-5
16-48256706-C-G p.Glu194Gln missense ABCC11 1 83286 1.20068E-5 41643 0 5.79307E-5
16-48256708-T-C p.Glu193Gly missense ABCC11 3 83280 3.60231E-5 41640 0 3.97757E-6
16-48256739-A-G p.Leu183Leu synonymous ABCC11 3 83128 3.60889E-5 41564 0 3.1839E-5
16-48256740-T-C p.Ile182Met missense+splice_region ABCC11 3 83124 3.60907E-5 41562 0 4.40855E-5
16-48258194-G-A p.Pro181Leu missense+splice_region ABCC11 1 83072 1.20378E-5 41536 0 NA
16-48258195-GC-G p.Pro181fs frameshift ABCC11 1 83070 1.2038E-5 41535 0 NA
16-48258198-C-T p.Gly180Arg missense ABCC11 10785 82730 0.130364 41365 1224 0.225107
16-48258199-G-A p.Leu179Leu synonymous ABCC11 1 83090 1.20351E-5 41545 0 9.55353E-5
16-48258226-G-A p.Gly170Gly synonymous ABCC11 1 83220 1.20163E-5 41610 0 3.18492E-5
16-48258240-C-T p.Asp166Asn missense ABCC11 2 83248 2.40246E-5 41624 0 1.19307E-5
16-48258241-G-A p.Phe165Phe synonymous ABCC11 3 83252 3.60352E-5 41626 0 0.00100705
16-48258249-A-G p.Leu163Leu synonymous ABCC11 1 83280 1.20077E-5 41640 0 NA
16-48258254-G-T p.Thr161Lys missense ABCC11 3 83280 3.60231E-5 41640 0 6.37105E-5
16-48258259-C-T p.Gln159Gln splice_region+synonymous ABCC11 3 83268 3.60282E-5 41634 0 NA
16-48258262-G-T p.Phe158Leu missense ABCC11 2 83264 2.402E-5 41632 0 8.23913E-6
16-48258283-C-T p.Val151Val synonymous ABCC11 1 83276 1.20083E-5 41638 0 NA
16-48258299-A-G p.Ile146Thr missense ABCC11 7 83238 8.40962E-5 41619 0 0.00100705
16-48258306-G-A p.Arg144* stop_gained ABCC11 6 83196 7.21189E-5 41598 0 3.29843E-5
16-48258307-C-A p.Arg143Ser missense ABCC11 1 83192 1.20204E-5 41596 0 1.59124E-5
16-48258314-ACTT-A p.Glu140del disruptive_inframe_deletion ABCC11 1 83142 1.20276E-5 41571 0 3.18573E-5
16-48258332-C-T p.Arg135His missense ABCC11 3 82944 3.6169E-5 41472 0 8.27801E-6
16-48258334-G-C p.His134Gln missense ABCC11 2 82910 2.41225E-5 41455 0 3.98562E-6
16-48261709-A-T c.395+8T>A splice_region ABCC11 5 83330 6.00024E-5 41665 0 1.59052E-5
16-48261719-T-C p.Gln131Gln splice_region+synonymous ABCC11 5 83340 5.99952E-5 41670 0 6.37714E-5
16-48261725-A-C p.Asn129Lys missense ABCC11 1 83346 1.19982E-5 41673 0 NA
16-48261731-G-A p.Asp127Asp synonymous ABCC11 3 83354 3.59911E-5 41677 0 NA
16-48261738-G-A p.Ala125Val missense ABCC11 3 83356 3.59902E-5 41678 0 8.23642E-6
16-48261761-G-A p.Ile117Ile synonymous ABCC11 31 83344 3.71952E-4 41672 0 3.14128E-4
16-48261770-C-T p.Glu114Glu synonymous ABCC11 1 83334 1.19999E-5 41667 0 NA
16-48261775-C-G p.Asp113His missense ABCC11 1 83336 1.19996E-5 41668 0 NA
16-48261776-T-A p.Leu112Phe missense ABCC11 1 83322 1.20016E-5 41661 0 NA
16-48261782-A-G p.Ser110Ser synonymous ABCC11 1 83328 1.20008E-5 41664 0 8.23683E-6
16-48261786-C-T p.Arg109Gln missense ABCC11 33 83334 3.95997E-4 41667 0 0.00302115
16-48261787-G-A p.Arg109Trp missense ABCC11 1 83332 1.20002E-5 41666 0 6.58957E-5
16-48261791-G-A p.Ser107Ser synonymous ABCC11 2 83328 2.40015E-5 41664 0 8.23696E-6
16-48261800-C-G p.Met104Ile missense ABCC11 2 83306 2.40079E-5 41653 0 NA
16-48261803-G-A p.Leu103Leu synonymous ABCC11 1 83296 1.20054E-5 41648 0 NA
16-48261807-G-A p.Pro102Leu missense ABCC11 3 83280 3.60231E-5 41640 0 3.57893E-5
16-48261815-C-T p.Trp99* stop_gained ABCC11 70 83260 8.4074E-4 41630 0 9.56023E-4
16-48261823-C-T p.Val97Met missense ABCC11 3 83236 3.60421E-5 41618 0 2.38641E-5
16-48261827-G-A p.Leu95Leu synonymous ABCC11 39 83224 4.68615E-4 41612 0 0.00100705
16-48261829-G-C p.Leu95Val missense ABCC11 42 83214 5.04723E-4 41607 0 0.00100705
16-48261832-A-G p.Tyr94His missense ABCC11 8 83194 9.61608E-5 41597 0 1.27478E-4
16-48261846-G-C p.Ala89Gly missense ABCC11 1 83080 1.20366E-5 41540 0 7.9609E-6
16-48261851-G-T p.Asp87Glu missense ABCC11 1 83004 1.20476E-5 41502 0 NA
16-48261853-C-G p.Asp87His missense ABCC11 1 82972 1.20523E-5 41486 0 NA
16-48261856-G-A p.Leu86Leu synonymous ABCC11 1 82944 1.20563E-5 41472 0 8.28267E-6
16-48261863-G-C p.Pro83Pro synonymous ABCC11 3 82668 3.62897E-5 41334 0 NA
16-48261865-G-A p.Pro83Ser missense ABCC11 2 82608 2.42107E-5 41304 0 NA
16-48261874-A-T p.Phe80Ile missense+splice_region ABCC11 5 82290 6.07607E-5 41145 0 1.2558E-4
16-48261877-T-C c.237-2A>G splice_acceptor ABCC11 1 82142 1.2174E-5 41071 0 5.04075E-5
16-48264346-A-C c.236+2T>G splice_donor ABCC11 2 82250 2.43161E-5 41125 0 NA
16-48264350-C-T p.Pro78Pro splice_region+synonymous ABCC11 9 82376 1.09255E-4 41188 0 1.10959E-4
16-48264351-G-A p.Pro78Leu missense ABCC11 4 82460 4.85084E-5 41230 0 9.56206E-5
16-48264352-G-A p.Pro78Ser missense ABCC11 252 82510 0.00305418 41255 7 0.0064074
16-48264360-C-T p.Arg75His missense ABCC11 5 82758 6.04171E-5 41379 0 2.23143E-4
16-48264360-C-A p.Arg75Leu missense ABCC11 1 82758 1.20834E-5 41379 0 NA
16-48264361-G-A p.Arg75Cys missense ABCC11 14 82806 1.6907E-4 41403 0 2.19576E-4
16-48264365-G-A p.Pro73Pro synonymous ABCC11 1 82934 1.20578E-5 41467 0 8.4059E-6
16-48264372-A-G p.Met71Thr missense ABCC11 2 83048 2.40825E-5 41524 0 NA
16-48264373-T-C p.Met71Val missense ABCC11 1 83042 1.20421E-5 41521 0 NA
16-48264378-C-T p.Arg69Lys missense ABCC11 2 83124 2.40604E-5 41562 0 5.00567E-5
16-48264380-C-T p.Leu68Leu synonymous ABCC11 2 83140 2.40558E-5 41570 0 3.18552E-5
16-48264391-C-G p.Asp65His missense ABCC11 1 83240 1.20135E-5 41620 0 4.00782E-6
16-48264395-C-T p.Lys63Lys synonymous ABCC11 57 83244 6.84734E-4 41622 0 0.00111493
16-48264396-T-C p.Lys63Arg missense ABCC11 1 83252 1.20117E-5 41626 0 NA
16-48264397-TC-T p.Lys63fs frameshift ABCC11 3 83250 3.6036E-5 41625 0 3.18756E-5
16-48264404-C-T p.Pro60Pro synonymous ABCC11 22 83278 2.64175E-4 41639 0 3.50475E-4
16-48264408-G-A p.Pro59Leu missense ABCC11 1 83292 1.2006E-5 41646 0 8.34223E-6
16-48264417-G-A p.Ala56Val missense ABCC11 1 83280 1.20077E-5 41640 0 8.38097E-6
16-48264423-C-G p.Gly54Ala missense ABCC11 1 83290 1.20062E-5 41645 0 3.18593E-5
16-48264439-TTC-T p.Arg48fs frameshift ABCC11 15 83272 1.80133E-4 41636 0 2.04071E-4
16-48264460-G-A p.Pro42Ser missense ABCC11 5 83168 6.01193E-5 41584 0 4.05864E-6
16-48264469-G-A p.Gln39* stop_gained ABCC11 1 83038 1.20427E-5 41519 0 NA
16-48264472-G-A p.Leu38Phe missense ABCC11 1 83012 1.20465E-5 41506 0 9.57561E-6
16-48264477-T-C p.Tyr36Cys missense ABCC11 1 82790 1.20788E-5 41395 0 NA
16-48264486-T-C c.100-2A>G splice_acceptor ABCC11 2 82142 2.43481E-5 41071 0 4.2303E-5
16-48265752-C-G p.Met27Ile missense ABCC11 1 83144 1.20273E-5 41572 0 NA
16-48265752-C-A p.Met27Ile missense ABCC11 3 83144 3.6082E-5 41572 0 6.37186E-5
16-48265757-C-A p.Asp26Tyr missense ABCC11 1 83186 1.20213E-5 41593 0 NA
16-48265761-G-A p.Gly24Gly synonymous ABCC11 4 83178 4.80896E-5 41589 0 3.18613E-5
16-48265766-T-C p.Ile23Val missense ABCC11 2 83222 2.40321E-5 41611 0 1.193E-5
16-48265769-C-T p.Asp22Asn missense ABCC11 44 83232 5.28643E-4 41616 0 0.001875
16-48265770-G-A p.Ile21Ile synonymous ABCC11 3 83234 3.6043E-5 41617 0 8.24416E-6
16-48265777-C-T p.Arg19His missense ABCC11 9296 83050 0.111933 41525 610 0.138221
16-48265784-C-T p.Val17Met missense ABCC11 1 83282 1.20074E-5 41641 0 4.77175E-5
16-48265798-G-C p.Ser12Cys missense ABCC11 7 83312 8.40215E-5 41656 0 8.23873E-6
16-48265804-G-C p.Pro10Arg missense ABCC11 1 83318 1.20022E-5 41659 0 NA
16-48265808-C-A p.Val9Leu missense ABCC11 1 83314 1.20028E-5 41657 0 5.03525E-4
16-48265809-C-A p.Trp8Cys missense ABCC11 251 83310 0.00301284 41655 7 0.00643763
16-48265817-T-C p.Thr6Ala missense ABCC11 1 83308 1.20036E-5 41654 0 NA
16-48265826-T-C p.Arg3Gly missense ABCC11 55 83282 6.60407E-4 41641 0 0.00100705
16-48265827-A-T p.Thr2Thr synonymous ABCC11 2 83276 2.40165E-5 41638 0 7.1607E-5
16-48265843-T-A c.-11A>T 5_prime_UTR_premature_start_codon_gain ABCC11 1 83240 1.20135E-5 41620 0 8.23886E-6
16-48265854-C-T c.-18-4G>A splice_region ABCC11 1 83152 1.20262E-5 41576 0 8.24049E-6
16-48265855-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain ABCC11 3 83148 3.60802E-5 41574 0 3.58354E-5
16-48265900-A-C c.-68T>G 5_prime_UTR_premature_start_codon_gain ABCC11 2 82092 2.43629E-5 41046 0 3.18492E-5
16-48266005-C-A c.-173G>T 5_prime_UTR_premature_start_codon_gain ABCC11 1 60046 1.66539E-5 30023 0 NA
16-48266046-G-A c.-214C>T 5_prime_UTR_premature_start_codon_gain ABCC11 1 41000 2.43902E-5 20500 0 NA
16-48266089-A-G c.-257T>C 5_prime_UTR_premature_start_codon_gain ABCC11 1 28846 3.46669E-5 14423 0 NA
16-48278112-A-G n.380+8T>C splice_region ABCC11 2 49422 4.04678E-5 24711 0 3.18634E-5
16-48278119-C-T n.380+1G>A splice_donor ABCC11 1 51822 1.92968E-5 25911 0 NA
16-48278119-C-G n.380+1G>C splice_donor ABCC11 3 51822 5.78905E-5 25911 0 9.55536E-5
16-48278121-G-C n.379C>G splice_region ABCC11 1 52348 1.91029E-5 26174 0 NA
16-48281294-T-C c.-88A>G 5_prime_UTR_premature_start_codon_gain ABCC11 7 22 0.318182 11 0 0.499583