Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-107975806-G-T p.Arg1257Arg synonymous IRS4 1017 82918 0.0122651 41459 223 0.0236159
X-107975806-G-A p.Arg1257Trp missense IRS4 1 82988 1.20499E-5 41494 0 4.3605E-5
X-107975822-G-A p.Asp1251Asp synonymous IRS4 2 83056 2.40801E-5 41528 1 NA
X-107975831-A-T p.Asn1248Lys missense IRS4 3 83070 3.61141E-5 41535 1 4.90415E-5
X-107975839-G-A p.Arg1246Cys missense IRS4 1 83070 1.2038E-5 41535 0 NA
X-107975867-G-A p.Asp1236Asp synonymous IRS4 2 83088 2.40709E-5 41544 0 4.59369E-5
X-107975887-C-A p.Asp1230Tyr missense IRS4 1077 83000 0.0129759 41500 250 0.0233329
X-107975896-C-G p.Glu1227Gln missense IRS4 1 82956 1.20546E-5 41478 0 NA
X-107975911-C-T p.Val1222Met missense IRS4 2 82828 2.41464E-5 41414 0 NA
X-107975912-C-T p.Arg1221Arg synonymous IRS4 128 82818 0.00154556 41409 40 0.00230734
X-107975916-C-A p.Arg1220Leu missense IRS4 42 82810 5.07185E-4 41405 11 6.90099E-4
X-107975951-A-C p.Ala1208Ala synonymous IRS4 23 82192 2.79833E-4 41096 7 0.00125
X-107975962-C-A p.Gly1205Trp missense IRS4 3 82664 3.62915E-5 41332 1 NA
X-107975968-C-T p.Ala1203Thr missense IRS4 1 82716 1.20896E-5 41358 0 NA
X-107975985-G-T p.Ala1197Asp missense IRS4 10 82798 1.20776E-4 41399 1 6.87758E-4
X-107975990-G-A p.Asn1195Asn synonymous IRS4 13 82824 1.56959E-4 41412 3 2.95575E-4
X-107976020-C-G p.Ser1185Ser synonymous IRS4 1 82630 1.21021E-5 41315 0 NA
X-107976021-G-C p.Ser1185Trp missense IRS4 1 82622 1.21033E-5 41311 0 2.34464E-5
X-107976035-G-C p.Asp1180Glu missense IRS4 1 82566 1.21115E-5 41283 0 4.18683E-5
X-107976038-T-G p.Gln1179His missense IRS4 1 82536 1.21159E-5 41268 0 1.23178E-5
X-107976039-T-C p.Gln1179Arg missense IRS4 12 82522 1.45416E-4 41261 2 6.87758E-4
X-107976041-G-T p.Ala1178Ala synonymous IRS4 2 82454 2.42559E-5 41227 1 2.34692E-4
X-107976059-G-A p.Ala1172Ala synonymous IRS4 10 82066 1.21853E-4 41033 4 3.75968E-5
X-107976101-G-A p.Ala1158Ala synonymous IRS4 1 81280 1.23031E-5 40640 0 NA
X-107976103-C-T p.Ala1158Thr missense IRS4 246 81142 0.00303172 40571 59 0.00671003
X-107976119-A-G p.Ala1152Ala synonymous IRS4 6 80842 7.42188E-5 40421 2 NA
X-107976133-C-T p.Ala1148Thr missense IRS4 1 80028 1.24956E-5 40014 0 2.6265E-5
X-107976134-G-A p.Gly1147Gly synonymous IRS4 6 80044 7.49588E-5 40022 2 9.54582E-5
X-107976136-C-G p.Gly1147Arg missense IRS4 4 80044 4.99725E-5 40022 1 2.71724E-5
X-107976141-C-T p.Gly1145Asp missense IRS4 1 80016 1.24975E-5 40008 0 3.93097E-5
X-107976144-G-C p.Pro1144Arg missense IRS4 1 80186 1.2471E-5 40093 0 1.30688E-5
X-107976149-T-C p.Ala1142Ala synonymous IRS4 1 80082 1.24872E-5 40041 0 5.21512E-5
X-107976158-C-A p.Ala1139Ala synonymous IRS4 13 79838 1.6283E-4 39919 4 9.19625E-5
X-107976166-C-A p.Ala1137Ser missense IRS4 6 79950 7.50469E-5 39975 1 2.57496E-5
X-107976192-A-G p.Leu1128Ser missense IRS4 3 80070 3.74672E-5 40035 1 4.55851E-5
X-107976199-G-T p.Pro1126Thr missense IRS4 1 80002 1.24997E-5 40001 0 NA
X-107976251-G-C p.Leu1108Leu synonymous IRS4 2 80492 2.48472E-5 40246 1 5.48528E-6
X-107976253-G-C p.Leu1108Val missense IRS4 4 80666 4.95872E-5 40333 1 1.2058E-4
X-107976275-G-C p.Val1100Val synonymous IRS4 1 81328 1.22959E-5 40664 0 5.74706E-5
X-107976280-C-A p.Ala1099Ser missense IRS4 5 81384 6.14371E-5 40692 1 NA
X-107976282-G-A p.Ala1098Val missense IRS4 3 81472 3.68225E-5 40736 0 NA
X-107976310-A-G p.Ser1089Pro missense IRS4 2 82226 2.43232E-5 41113 1 NA
X-107976323-G-A p.Arg1084Arg synonymous IRS4 4 82388 4.85508E-5 41194 1 2.72705E-5
X-107976324-C-A p.Arg1084Leu missense IRS4 1 82376 1.21395E-5 41188 0 5.45405E-6
X-107976327-C-A p.Arg1083Ile missense IRS4 1 82494 1.21221E-5 41247 0 NA
X-107976336-T-C p.Gln1080Arg missense IRS4 3 82608 3.63161E-5 41304 1 NA
X-107976360-G-A p.Ala1072Val missense IRS4 3 82774 3.62433E-5 41387 0 1.63543E-5
X-107976387-C-T p.Ser1063Asn missense IRS4 4 82912 4.82439E-5 41456 2 NA
X-107976442-T-C p.Ile1045Val missense IRS4 1 82994 1.20491E-5 41497 0 NA
X-107976470-G-A p.Ala1035Ala synonymous IRS4 404 83140 0.00485927 41570 86 0.00976437
X-107976475-T-G p.Ser1034Arg missense IRS4 2 83144 2.40547E-5 41572 1 NA
X-107976476-G-A p.Asp1033Asp synonymous IRS4 3 83154 3.60776E-5 41577 1 3.41876E-5
X-107976499-T-C p.Thr1026Ala missense IRS4 4 83146 4.81081E-5 41573 1 2.72469E-5
X-107976517-T-G p.Ile1020Leu missense IRS4 2 83130 2.40587E-5 41565 1 1.08992E-5
X-107976550-C-A p.Ala1009Ser missense IRS4 29 83006 3.49372E-4 41503 6 6.88231E-4
X-107976556-T-C p.Ser1007Gly missense IRS4 1 82966 1.20531E-5 41483 0 3.41912E-5
X-107976573-G-C p.Pro1001Arg missense IRS4 8 82792 9.66277E-5 41396 2 6.25E-4
X-107976574-G-A p.Pro1001Ser missense IRS4 3 82774 3.62433E-5 41387 1 6.83784E-5
X-107976589-G-T p.Pro996Thr missense IRS4 5 82528 6.05855E-5 41264 1 1.13961E-4
X-107976639-A-G p.Leu979Ser missense IRS4 2 82046 2.43766E-5 41023 1 1.13952E-5
X-107976643-G-A p.Leu978Phe missense IRS4 1 82100 1.21803E-5 41050 0 NA
X-107976646-C-G p.Asp977His missense IRS4 2 82082 2.43659E-5 41041 1 NA
X-107976674-T-C p.Pro967Pro synonymous IRS4 4 82408 4.8539E-5 41204 1 5.45598E-6
X-107976699-T-C p.Tyr959Cys missense IRS4 1 82756 1.20837E-5 41378 0 1.13954E-5
X-107976723-G-A p.Pro951Leu missense IRS4 2 83038 2.40854E-5 41519 1 6.87758E-4
X-107976735-A-G p.Ile947Thr missense IRS4 2 83102 2.40668E-5 41551 0 4.57018E-5
X-107976737-G-A p.Gly946Gly synonymous IRS4 1 83106 1.20328E-5 41553 0 2.18003E-5
X-107976752-T-C p.Leu941Leu synonymous IRS4 3 83162 3.60742E-5 41581 1 1.08992E-5
X-107976774-G-T p.Pro934Gln missense IRS4 2 83230 2.40298E-5 41615 1 NA
X-107976776-T-C p.Thr933Thr synonymous IRS4 2 83238 2.40275E-5 41619 1 5.44923E-6
X-107976822-G-C p.Ser918Cys missense IRS4 6 83262 7.20617E-5 41631 2 3.26958E-5
X-107976834-T-A p.Glu914Val missense IRS4 2 83250 2.4024E-5 41625 0 NA
X-107976839-C-T p.Gln912Gln synonymous IRS4 2 83266 2.40194E-5 41633 0 NA
X-107976844-C-T p.Glu911Lys missense IRS4 3 83272 3.60265E-5 41636 1 3.26947E-5
X-107976861-G-A p.Pro905Leu missense IRS4 4 83252 4.80469E-5 41626 1 2.27884E-5
X-107976877-T-C p.Lys900Glu missense IRS4 1 83226 1.20155E-5 41613 0 1.08984E-5
X-107976878-A-G p.Tyr899Tyr synonymous IRS4 2 83228 2.40304E-5 41614 1 1.08985E-5
X-107976887-T-C p.Thr896Thr synonymous IRS4 1 83220 1.20163E-5 41610 0 NA
X-107976903-C-T p.Arg891Gln missense IRS4 7 83200 8.41346E-5 41600 2 9.18442E-5
X-107976934-G-A p.Pro881Ser missense IRS4 1 83234 1.20143E-5 41617 0 NA
X-107976936-T-C p.Glu880Gly missense IRS4 4 83252 4.80469E-5 41626 0 4.58043E-5
X-107976940-G-C p.His879Asp missense IRS4 25744 83078 0.309877 41539 9017 0.360956
X-107976940-G-A p.His879Tyr missense IRS4 1 83250 1.2012E-5 41625 0 4.64123E-5
X-107976949-G-C p.Pro876Ala missense IRS4 1 83248 1.20123E-5 41624 0 1.13956E-5
X-107976988-A-T p.Ser863Thr missense IRS4 1 83270 1.20091E-5 41635 0 NA
X-107976999-G-A p.Ser859Leu missense IRS4 2 83278 2.40159E-5 41639 1 NA
X-107977003-G-C p.Pro858Ala missense IRS4 5 83278 6.00399E-5 41639 2 4.56038E-5
X-107977013-T-C p.Ala854Ala synonymous IRS4 2 83274 2.40171E-5 41637 1 NA
X-107977021-T-C p.Lys852Glu missense IRS4 1 83258 1.20109E-5 41629 0 NA
X-107977052-T-A p.Leu841Leu synonymous IRS4 5 83228 6.00759E-5 41614 2 4.60405E-5
X-107977057-C-T p.Gly840Ser missense IRS4 1 83226 1.20155E-5 41613 0 1.1395E-5
X-107977076-A-C p.Pro833Pro synonymous IRS4 5 83210 6.00889E-5 41605 1 5.99406E-5
X-107977099-T-C p.Ser826Gly missense IRS4 3 83214 3.60516E-5 41607 1 4.61042E-5
X-107977103-G-C p.Asp824Glu missense IRS4 1 83216 1.20169E-5 41608 0 2.27915E-5
X-107977111-G-C p.Gln822Glu missense IRS4 2 83202 2.40379E-5 41601 0 NA
X-107977119-G-T p.Pro819His missense IRS4 2 83226 2.4031E-5 41613 0 NA
X-107977120-G-T p.Pro819Thr missense IRS4 3 83210 3.60534E-5 41605 0 NA
X-107977146-G-C p.Ser810Cys missense IRS4 1 83228 1.20152E-5 41614 0 NA
X-107977152-T-C p.Tyr808Cys missense IRS4 3 83202 3.60568E-5 41601 1 5.45007E-6
X-107977171-A-C p.Ser802Ala missense IRS4 4 83200 4.80769E-5 41600 2 2.27946E-5
X-107977181-A-G p.Gly798Gly synonymous IRS4 2 83178 2.40448E-5 41589 1 1.13977E-5
X-107977184-C-T p.Gln797Gln synonymous IRS4 8 83180 9.6177E-5 41590 3 1.13981E-5
X-107977195-T-C p.Arg794Gly missense IRS4 2 83164 2.40489E-5 41582 1 NA
X-107977199-G-T p.Asn792Lys missense IRS4 13 83128 1.56385E-4 41564 2 0.00206327
X-107977224-G-A p.Pro784Leu missense IRS4 1 83092 1.20349E-5 41546 0 NA
X-107977256-A-G p.Asn773Asn synonymous IRS4 1 83024 1.20447E-5 41512 0 NA
X-107977276-C-T p.Glu767Lys missense IRS4 2 82978 2.41028E-5 41489 1 1.09064E-5
X-107977303-G-C p.Pro758Ala missense IRS4 3 82964 3.61603E-5 41482 1 0.00125
X-107977304-A-T p.Ser757Arg missense IRS4 3 82956 3.61638E-5 41478 1 1.38594E-4
X-107977341-A-G p.Met745Thr missense IRS4 2 82876 2.41324E-5 41438 1 NA
X-107977349-C-T p.Gly742Gly synonymous IRS4 1 82800 1.20773E-5 41400 0 NA
X-107977374-C-T p.Arg734Gln missense IRS4 2 82460 2.42542E-5 41230 1 NA
X-107977374-C-G p.Arg734Pro missense IRS4 1 82462 1.21268E-5 41231 0 NA
X-107977385-C-CT p.Arg731fs frameshift IRS4 1 82328 1.21465E-5 41164 0 NA
X-107977424-A-G p.Tyr717Tyr synonymous IRS4 1 82200 1.21655E-5 41100 0 NA
X-107977429-C-A p.Asp716Tyr missense IRS4 1 82234 1.21604E-5 41117 0 NA
X-107977438-T-A p.Ser713Cys missense IRS4 2 82312 2.42978E-5 41156 1 5.45438E-6
X-107977459-C-A p.Gly706Trp missense IRS4 3 82508 3.63601E-5 41254 1 NA
X-107977459-C-T p.Gly706Arg missense IRS4 2 82508 2.42401E-5 41254 0 5.45512E-6
X-107977468-T-A p.Met703Leu missense IRS4 9 82666 1.08872E-4 41333 2 1.02563E-4
X-107977474-C-T p.Val701Met missense IRS4 4 82730 4.83501E-5 41365 2 1.13959E-5
X-107977514-G-A p.His687His synonymous IRS4 1 83104 1.20331E-5 41552 0 5.45176E-6
X-107977518-G-C p.Pro686Arg missense IRS4 2 83066 2.40772E-5 41533 1 NA
X-107977528-C-A p.Ala683Ser missense IRS4 1 83068 1.20383E-5 41534 0 1.13941E-5
X-107977567-C-G p.Ala670Pro missense IRS4 5 83126 6.01497E-5 41563 2 2.27915E-5
X-107977569-T-C p.Glu669Gly missense IRS4 2 83130 2.40587E-5 41565 1 2.72445E-5
X-107977573-T-C p.Lys668Glu missense IRS4 3 83114 3.6095E-5 41557 1 2.27915E-5
X-107977581-T-G p.Lys665Thr missense IRS4 2 83084 2.4072E-5 41542 1 1.63467E-5
X-107977590-C-T p.Gly662Glu missense IRS4 8 83066 9.6309E-5 41533 0 1.03533E-4
X-107977600-C-T p.Val659Ile missense IRS4 11 83056 1.32441E-4 41528 3 3.23864E-4
X-107977649-T-G p.Gly642Gly synonymous IRS4 1 83162 1.20247E-5 41581 0 1.13994E-5
X-107977667-TGGA-T p.Pro636del disruptive_inframe_deletion IRS4 9 83138 1.08254E-4 41569 2 4.59939E-5
X-107977668-G-A p.Pro636Leu missense IRS4 5 83164 6.01222E-5 41582 1 5.99419E-5
X-107977673-AGGAGGTGGT-A p.Pro632_Pro634del disruptive_inframe_deletion IRS4 4 83158 4.81012E-5 41579 2 1.63467E-5
X-107977678-G-A p.Pro633Ser missense IRS4 2 83158 2.40506E-5 41579 1 1.1396E-5
X-107977742-C-A p.Lys611Asn missense IRS4 1 83112 1.2032E-5 41556 0 NA
X-107977750-A-C p.Ser609Ala missense IRS4 3 83086 3.61072E-5 41543 1 5.44962E-6
X-107977758-C-T p.Arg606His missense IRS4 2 83070 2.40761E-5 41535 1 1.13971E-5
X-107977760-T-C p.Glu605Glu synonymous IRS4 2 83056 2.40801E-5 41528 1 NA
X-107977768-C-T p.Asp603Asn missense IRS4 1 83020 1.20453E-5 41510 0 5.6984E-5
X-107977774-C-G p.Asp601His missense IRS4 1 83014 1.20462E-5 41507 0 NA
X-107977775-G-T p.Ser600Ser synonymous IRS4 116 83004 0.00139752 41502 28 0.00344353
X-107977776-G-A p.Ser600Phe missense IRS4 20 83010 2.40935E-4 41505 5 0.00125
X-107977779-C-G p.Gly599Ala missense IRS4 2 83022 2.409E-5 41511 0 NA
X-107977784-C-T p.Gly597Gly synonymous IRS4 1 82986 1.20502E-5 41493 0 1.13967E-5
X-107977802-G-GC p.Lys592fs frameshift IRS4 5 82630 6.05107E-5 41315 0 0.00552105
X-107977802-G-GCC p.Lys592fs frameshift IRS4 2 82680 2.41896E-5 41340 0 NA
X-107977804-C-A p.Gly591Cys missense IRS4 4 82620 4.84144E-5 41310 2 NA
X-107977804-C-T p.Gly591Ser missense IRS4 6 82620 7.26216E-5 41310 1 2.18112E-5
X-107977807-C-G p.Gly590Arg missense IRS4 1 82564 1.21118E-5 41282 0 NA
X-107977808-C-T p.Gly589Gly synonymous IRS4 3 82560 3.63372E-5 41280 1 9.11764E-5
X-107977808-C-G p.Gly589Gly synonymous IRS4 1 82560 1.21124E-5 41280 0 1.13971E-5
X-107977809-C-T p.Gly589Glu missense IRS4 1 82524 1.21177E-5 41262 0 NA
X-107977809-C-A p.Gly589Val missense IRS4 3 82524 3.63531E-5 41262 1 9.17894E-5
X-107977811-A-C p.Ser588Ser synonymous IRS4 21 82452 2.54694E-4 41226 5 4.6307E-5
X-107977819-TGCCACCACCTGAGCCATGGCCATCTCCAGGTCCCTG-T p.Gln574_Gly585del conservative_inframe_deletion IRS4 4 82242 4.86369E-5 41121 1 1.13977E-5
X-107977820-G-C p.Gly585Gly synonymous IRS4 3 82166 3.65115E-5 41083 1 NA
X-107977822-C-T p.Gly585Ser missense IRS4 3 82124 3.65301E-5 41062 1 NA
X-107977830-G-A p.Ser582Leu missense IRS4 3 81980 3.65943E-5 40990 1 2.27988E-5
X-107977832-G-A p.Gly581Gly synonymous IRS4 1 81928 1.22058E-5 40964 0 NA
X-107977840-C-T p.Gly579Ser missense IRS4 15 81768 1.83446E-4 40884 3 1.36382E-4
X-107977873-G-A p.His568Tyr missense IRS4 2 81088 2.46646E-5 40544 0 5.46012E-6
X-107977885-G-A p.Pro564Ser missense IRS4 2 81170 2.46396E-5 40585 1 NA
X-107977918-C-T p.Ala553Thr missense IRS4 1 81776 1.22285E-5 40888 0 2.18442E-5
X-107977919-G-A p.Thr552Thr synonymous IRS4 1 81744 1.22333E-5 40872 0 NA
X-107977926-T-C p.Gln550Arg missense IRS4 2 81974 2.4398E-5 40987 1 1.14017E-5
X-107977928-G-A p.Gly549Gly synonymous IRS4 1 81940 1.22041E-5 40970 0 NA
X-107977933-C-T p.Asp548Asn missense IRS4 1 82070 1.21847E-5 41035 0 4.67968E-5
X-107977940-G-A p.Cys545Cys synonymous IRS4 1 82072 1.21844E-5 41036 0 1.09221E-5
X-107977941-C-T p.Cys545Tyr missense IRS4 9 82086 1.09641E-4 41043 4 2.28055E-5
X-107977958-G-A p.Gly539Gly synonymous IRS4 1 82186 1.21675E-5 41093 0 5.46099E-6
X-107977974-C-T p.Gly534Asp missense IRS4 1 82266 1.21557E-5 41133 0 NA
X-107978000-C-T p.Glu525Glu synonymous IRS4 1 82286 1.21527E-5 41143 0 2.28006E-5
X-107978019-C-T p.Gly519Glu missense IRS4 2 82314 2.42972E-5 41157 0 2.27964E-5
X-107978034-C-T p.Ser514Asn missense IRS4 2 82362 2.4283E-5 41181 1 5.45182E-6
X-107978041-A-G p.Ser512Pro missense IRS4 3 82320 3.64431E-5 41160 1 6.25E-4
X-107978051-A-T p.Asn508Lys missense IRS4 1953 82380 0.0237072 41190 494 0.0473201
X-107978052-T-C p.Asn508Ser missense IRS4 9 82430 1.09184E-4 41215 2 0.00275103
X-107978059-C-T p.Gly506Ser missense IRS4 1 82520 1.21183E-5 41260 0 0.00125
X-107978080-G-A p.Arg499Trp missense IRS4 9 82692 1.08838E-4 41346 3 2.72474E-5
X-107978082-C-T p.Gly498Asp missense IRS4 2 82738 2.41727E-5 41369 1 NA
X-107978093-G-A p.Gly494Gly synonymous IRS4 1 82862 1.20683E-5 41431 0 NA
X-107978099-A-G p.Asn492Asn synonymous IRS4 2 82898 2.4126E-5 41449 1 5.69697E-5
X-107978102-G-A p.Asn491Asn synonymous IRS4 4 82946 4.82241E-5 41473 1 4.56934E-5
X-107978108-A-G p.Pro489Pro synonymous IRS4 2 82956 2.41092E-5 41478 1 NA
X-107978126-G-A p.Ser483Ser synonymous IRS4 4 82936 4.823E-5 41468 2 5.44885E-6
X-107978127-C-T p.Ser483Asn missense IRS4 2 82972 2.41045E-5 41486 0 NA
X-107978158-T-A p.Asn473Tyr missense IRS4 6 82810 7.2455E-5 41405 1 NA
X-107978171-A-G p.Phe468Phe synonymous IRS4 1 82726 1.20881E-5 41363 0 1.13954E-5
X-107978190-C-CCAGACACTT p.Glu459_Ser461dup conservative_inframe_insertion IRS4 1 82574 1.21103E-5 41287 0 NA
X-107978211-C-G p.Arg455Pro missense IRS4 2 82272 2.43096E-5 41136 0 5.44977E-6
X-107978211-C-T p.Arg455His missense IRS4 2 82272 2.43096E-5 41136 0 NA
X-107978226-G-A p.Pro450Leu missense IRS4 1 82168 1.21702E-5 41084 0 5.45099E-6
X-107978244-C-G p.Arg444Pro missense IRS4 1 82008 1.21939E-5 41004 0 6.54329E-5
X-107978245-G-A p.Arg444Trp missense IRS4 43 82088 5.23828E-4 41044 11 6.88231E-4
X-107978253-G-C p.Ala441Gly missense IRS4 2 82126 2.43528E-5 41063 0 5.45265E-6
X-107978260-T-A p.Ser439Cys missense IRS4 26 82114 3.16633E-4 41057 4 0.00155493
X-107978270-G-A p.Arg435Arg synonymous IRS4 17 82168 2.06893E-4 41084 3 4.58905E-4
X-107978275-G-A p.Arg434Cys missense IRS4 1 82164 1.21708E-5 41082 0 NA
X-107978281-A-G p.Phe432Leu missense IRS4 2 82254 2.43149E-5 41127 0 NA
X-107978289-G-C p.Pro429Arg missense IRS4 2 82172 2.43392E-5 41086 0 1.63722E-5
X-107978299-C-T p.Val426Ile missense IRS4 1 82214 1.21634E-5 41107 0 1.14278E-5
X-107978300-C-T p.Ala425Ala synonymous IRS4 1 82188 1.21672E-5 41094 0 1.14295E-5
X-107978301-G-T p.Ala425Glu missense IRS4 2 82152 2.43451E-5 41076 1 1.14305E-5
X-107978302-C-T p.Ala425Thr missense IRS4 3 82188 3.65017E-5 41094 1 5.45911E-6
X-107978306-C-T p.Arg423Arg synonymous IRS4 1 82194 1.21663E-5 41097 0 3.27658E-5
X-107978311-A-T p.Ser422Thr missense IRS4 5 82136 6.08746E-5 41068 1 4.59263E-5
X-107978325-G-A p.Pro417Leu missense IRS4 8 82048 9.75039E-5 41024 3 1.3764E-4
X-107978342-T-A p.Arg411Arg synonymous IRS4 1218 82056 0.0148435 41028 531 0.0604782
X-107978342-TC-AT p.Arg411His missense IRS4 3362 81974 0.041013 40987 654 NA
X-107978342-TC-CT p.Arg411Gln missense IRS4 1 82068 1.2185E-5 41034 0 NA
X-107978343-C-T p.Arg411Gln missense IRS4 1221 82046 0.0148819 41023 533 0.0604782
X-107978352-T-C p.His408Arg missense IRS4 7 82134 8.52266E-5 41067 3 NA
X-107978366-G-T p.Ser403Arg missense IRS4 1 82066 1.21853E-5 41033 0 NA
X-107978375-T-G p.Val400Val synonymous IRS4 1 82176 1.2169E-5 41088 0 5.46544E-6
X-107978376-A-G p.Val400Ala missense IRS4 1 82142 1.2174E-5 41071 0 1.63962E-5
X-107978377-C-T p.Val400Ile missense IRS4 395 82136 0.0048091 41068 80 0.0105073
X-107978377-C-G p.Val400Leu missense IRS4 8 82144 9.739E-5 41072 2 1.03031E-4
X-107978378-G-A p.Phe399Phe synonymous IRS4 2 82162 2.43422E-5 41081 1 0.00137646
X-107978382-C-T p.Arg398His missense IRS4 6 82190 7.30016E-5 41095 2 1.60225E-4
X-107978399-C-T p.Glu392Glu synonymous IRS4 3 82436 3.63919E-5 41218 0 1.14422E-5
X-107978410-C-G p.Gly389Arg missense IRS4 7 82530 8.48176E-5 41265 2 4.62364E-5
X-107978421-G-T p.Ala385Asp missense IRS4 2 82502 2.42418E-5 41251 1 NA
X-107978422-C-T p.Ala385Thr missense IRS4 1 82506 1.21203E-5 41253 0 NA
X-107978426-G-A p.Leu383Leu synonymous IRS4 1 82498 1.21215E-5 41249 0 1.14419E-5
X-107978428-G-A p.Leu383Phe missense IRS4 2 82442 2.42595E-5 41221 0 1.14419E-5
X-107978449-G-C p.Arg376Gly missense IRS4 1 82244 1.21589E-5 41122 0 5.45732E-6
X-107978451-G-A p.Ser375Phe missense IRS4 1 82230 1.2161E-5 41115 0 5.45723E-6
X-107978481-G-C p.Pro365Arg missense IRS4 1 81828 1.22208E-5 40914 0 NA
X-107978491-C-A p.Gly362Cys missense IRS4 2 81902 2.44194E-5 40951 1 NA
X-107978495-G-A p.His360His synonymous IRS4 2 81878 2.44266E-5 40939 1 2.2882E-5
X-107978499-C-T p.Arg359Lys missense IRS4 1 81922 1.22067E-5 40961 0 1.6384E-5
X-107978531-G-T p.Gly348Gly synonymous IRS4 5 81922 6.10337E-5 40961 2 5.70561E-5
X-107978534-G-A p.Ile347Ile synonymous IRS4 1 82060 1.21862E-5 41030 0 2.28175E-5
X-107978536-T-A p.Ile347Phe missense IRS4 1 82084 1.21826E-5 41042 0 1.14073E-5
X-107978560-G-C p.Arg339Gly missense IRS4 10 82204 1.21649E-4 41102 1 NA
X-107978561-G-C p.Ala338Ala synonymous IRS4 1 82220 1.21625E-5 41110 0 1.09003E-5
X-107978573-G-A p.Asp334Asp synonymous IRS4 2 82350 2.42866E-5 41175 0 3.81473E-5
X-107978574-T-C p.Asp334Gly missense IRS4 3 82356 3.64272E-5 41178 0 5.44921E-6
X-107978592-ATCT-A p.Lys327del disruptive_inframe_deletion IRS4 1 82458 1.21274E-5 41229 0 NA
X-107978599-C-T p.Glu326Lys missense IRS4 4 82450 4.85143E-5 41225 1 1.13983E-5
X-107978665-G-C p.Pro304Ala missense IRS4 1 82158 1.21717E-5 41079 0 NA
X-107978682-C-G p.Arg298Thr missense IRS4 1 81996 1.21957E-5 40998 0 NA
X-107978737-G-A p.Leu280Leu synonymous IRS4 1 81706 1.2239E-5 40853 0 5.45673E-6
X-107978738-G-A p.Leu279Leu synonymous IRS4 1 81696 1.22405E-5 40848 0 4.76417E-5
X-107978742-T-C p.Gln278Arg missense IRS4 1 81666 1.2245E-5 40833 0 1.14318E-5
X-107978761-C-T p.Val272Met missense IRS4 2 81804 2.44487E-5 40902 1 NA
X-107978765-G-A p.Thr270Thr synonymous IRS4 14 81794 1.71162E-4 40897 3 9.61492E-5
X-107978839-G-T p.His246Asn missense IRS4 4 81004 4.93803E-5 40502 1 NA
X-107978858-G-A p.Val239Val synonymous IRS4 2 80504 2.48435E-5 40252 1 NA
X-107978876-A-T p.Asp233Glu missense IRS4 2 79510 2.51541E-5 39755 0 5.61325E-6
X-107978883-T-C p.Tyr231Cys missense IRS4 2 78638 2.5433E-5 39319 0 5.42977E-5
X-107978897-C-T p.Ala226Ala synonymous IRS4 1 76122 1.31368E-5 38061 0 1.53993E-5
X-107978898-G-A p.Ala226Val missense IRS4 4 75818 5.27579E-5 37909 1 6.39386E-4
X-107978900-C-A p.Ala225Ala synonymous IRS4 1 75684 1.32128E-5 37842 0 NA
X-107978906-T-TGCCGCC p.Ala222_Ala223dup disruptive_inframe_insertion IRS4 5 75480 6.62427E-5 37740 2 5.51238E-5
X-107978933-G-A p.Asp214Asp synonymous IRS4 2 76162 2.62598E-5 38081 1 NA
X-107978937-G-C p.Pro213Arg missense IRS4 20 76132 2.62702E-4 38066 4 2.74982E-4
X-107978943-G-A p.Ala211Val missense IRS4 1 75866 1.31811E-5 37933 0 6.75128E-6
X-107978948-G-A p.Leu209Leu synonymous IRS4 1 76032 1.31524E-5 38016 0 NA
X-107978964-C-T p.Arg204His missense IRS4 2 76744 2.60607E-5 38372 1 NA
X-107978978-G-C p.Leu199Leu synonymous IRS4 1 78432 1.27499E-5 39216 0 5.90814E-6
X-107978993-G-T p.Leu194Leu synonymous IRS4 18 79874 2.25355E-4 39937 3 3.65249E-4
X-107979015-T-C p.Gln187Arg missense IRS4 1 80850 1.23686E-5 40425 0 NA
X-107979026-G-A p.Asn183Asn synonymous IRS4 2 81090 2.4664E-5 40545 1 5.48297E-6
X-107979101-C-G p.Gln158His missense IRS4 1 81484 1.22723E-5 40742 0 NA
X-107979123-T-C p.Tyr151Cys missense IRS4 1 81260 1.23062E-5 40630 0 NA
X-107979138-C-T p.Arg146His missense IRS4 2 80918 2.47164E-5 40459 1 NA
X-107979140-C-T p.Arg145Arg synonymous IRS4 4 80882 4.94548E-5 40441 2 4.89069E-5
X-107979142-G-A p.Arg145Trp missense IRS4 1 80866 1.23661E-5 40433 0 NA
X-107979142-G-T p.Arg145Arg synonymous IRS4 1 80866 1.23661E-5 40433 0 2.21367E-5
X-107979156-G-C p.Pro140Arg missense IRS4 1 80758 1.23827E-5 40379 0 8.93655E-5
X-107979156-G-T p.Pro140Gln missense IRS4 2 80758 2.47653E-5 40379 0 9.73425E-5
X-107979157-G-T p.Pro140Thr missense IRS4 4 80738 4.9543E-5 40369 1 9.23599E-4
X-107979161-G-T p.Ile138Ile synonymous IRS4 5 80498 6.21133E-5 40249 2 1.68447E-5
X-107979164-C-A p.Ala137Ala synonymous IRS4 1 80226 1.24648E-5 40113 0 NA
X-107979165-G-A p.Ala137Val missense IRS4 2 80136 2.49576E-5 40068 0 5.64662E-6
X-107979165-G-C p.Ala137Gly missense IRS4 1 80136 1.24788E-5 40068 0 NA
X-107979167-G-C p.Ala136Ala synonymous IRS4 1 80086 1.24866E-5 40043 0 1.25968E-5
X-107979169-C-CTGTGTCTAACCGACGAGGAGGTCGTGTTTGTGAGGCTGAACACCGAAGTG p.Ala136fs frameshift IRS4 1 79952 1.25075E-5 39976 0 NA
X-107979169-C-A p.Ala136Ser missense IRS4 1 79952 1.25075E-5 39976 0 NA
X-107979170-G-T p.Gly135Gly synonymous IRS4 1 79960 1.25063E-5 39980 0 NA
X-107979182-C-T p.Ala131Ala synonymous IRS4 2 76728 2.60661E-5 38364 1 5.99653E-6
X-107979188-T-G p.Ala129Ala synonymous IRS4 1 77222 1.29497E-5 38611 0 NA
X-107979191-T-A p.Ala128Ala synonymous IRS4 11 77542 1.41859E-4 38771 4 8.11209E-5
X-107979252-C-G p.Arg108Pro missense IRS4 2 81032 2.46816E-5 40516 1 NA
X-107979266-A-G p.Ala103Ala synonymous IRS4 2 81288 2.46039E-5 40644 0 4.75805E-5
X-107979277-G-A p.Leu100Phe missense IRS4 2 81416 2.45652E-5 40708 0 1.18106E-5
X-107979312-T-C p.Gln88Arg missense IRS4 1 81366 1.22901E-5 40683 0 NA
X-107979346-C-T p.Glu77Lys missense IRS4 2 80922 2.47152E-5 40461 1 NA
X-107979352-C-T p.Val75Ile missense IRS4 1 80774 1.23802E-5 40387 0 1.19225E-5
X-107979380-G-A p.Asp65Asp synonymous IRS4 1 80220 1.24657E-5 40110 0 NA
X-107979386-C-T p.Arg63Arg synonymous IRS4 2 80010 2.49969E-5 40005 0 NA
X-107979397-T-C p.Thr60Ala missense IRS4 1 80060 1.24906E-5 40030 0 2.42345E-5
X-107979399-G-A p.Ala59Val missense IRS4 1 80090 1.2486E-5 40045 0 NA
X-107979401-C-T p.Thr58Thr synonymous IRS4 61 80058 7.61948E-4 40029 11 7.10026E-4
X-107979401-C-G p.Thr58Thr synonymous IRS4 1 80060 1.24906E-5 40030 0 5.59378E-6
X-107979437-G-A p.Thr46Thr synonymous IRS4 4740 80242 0.0590713 40121 1220 0.0655853
X-107979446-G-A p.Leu43Leu synonymous IRS4 2 80502 2.48441E-5 40251 1 5.54434E-6
X-107979450-G-A p.Ala42Val missense IRS4 7 80436 8.70257E-5 40218 1 4.98974E-5
X-107979451-C-T p.Ala42Thr missense IRS4 1 80392 1.2439E-5 40196 0 NA
X-107979452-G-A p.Thr41Thr synonymous IRS4 2 80416 2.48707E-5 40208 1 NA
X-107979456-G-T p.Pro40Gln missense IRS4 2 80406 2.48738E-5 40203 1 2.3963E-5
X-107979462-C-T p.Gly38Glu missense IRS4 2 80334 2.48961E-5 40167 1 6.25E-4
X-107979464-C-G p.Ser37Ser synonymous IRS4 2 80254 2.49209E-5 40127 0 1.19624E-5
X-107979469-A-G p.Ser36Pro missense IRS4 4 80280 4.98256E-5 40140 0 0.00344353
X-107979475-G-A p.Leu34Phe missense IRS4 4708 79994 0.0588544 39997 1214 0.0640394
X-107979479-G-T p.Thr32Thr synonymous IRS4 1 80148 1.24769E-5 40074 0 5.53952E-6
X-107979482-G-A p.Thr31Thr synonymous IRS4 2 80058 2.49819E-5 40029 1 NA
X-107979483-G-C p.Thr31Ser missense IRS4 3 79986 3.75066E-5 39993 1 NA
X-107979503-T-C p.Ala24Ala synonymous IRS4 2 80046 2.49856E-5 40023 1 NA
X-107979505-C-T p.Ala24Thr missense IRS4 2 80240 2.49252E-5 40120 0 NA
X-107979509-TGCC-T p.Ala22del disruptive_inframe_deletion IRS4 5 80136 6.23939E-5 40068 1 3.13414E-4
X-107979509-T-C p.Ala22Ala synonymous IRS4 1 80296 1.24539E-5 40148 0 1.11808E-5
X-107979509-T-TGCC p.Ala22dup disruptive_inframe_insertion IRS4 1 80296 1.24539E-5 40148 0 NA
X-107979512-C-T p.Ala21Ala synonymous IRS4 23580 78960 0.298632 39480 7837 0.352856
X-107979515-C-T p.Ala20Ala synonymous IRS4 18088 79886 0.226423 39943 5752 0.280085
X-107979551-G-C p.Arg8Arg synonymous IRS4 1 80480 1.24254E-5 40240 0 1.17702E-5
X-107979560-G-A p.Ser5Ser synonymous IRS4 8 80520 9.93542E-5 40260 2 4.60829E-5
X-107979603-G-C c.-29C>G 5_prime_UTR_premature_start_codon_gain IRS4 1 78878 1.26778E-5 39439 0 NA