Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-130275456-C-T p.Leu889Leu synonymous ADAMTS8 5 80722 6.1941E-5 40361 1 1.35624E-4
11-130275458-G-A p.Leu889Leu synonymous ADAMTS8 2 80814 2.47482E-5 40407 0 7.20072E-5
11-130275461-G-A p.Pro888Ser missense ADAMTS8 2 80934 2.47115E-5 40467 0 1.7935E-5
11-130275462-G-A p.Cys887Cys synonymous ADAMTS8 1 80910 1.23594E-5 40455 0 NA
11-130275465-C-G p.Leu886Leu synonymous ADAMTS8 1 81080 1.23335E-5 40540 0 NA
11-130275476-C-T p.Glu883Lys missense ADAMTS8 2 81320 2.45942E-5 40660 0 8.70898E-6
11-130275477-G-A p.Cys882Cys synonymous ADAMTS8 269 81308 0.00330841 40654 5 0.00768201
11-130275494-C-T p.Glu877Lys missense ADAMTS8 5 81758 6.11561E-5 40879 0 6.37186E-5
11-130275495-G-A p.Pro876Pro synonymous ADAMTS8 2 81760 2.44618E-5 40880 0 1.20717E-5
11-130275529-T-C p.Gln865Arg missense ADAMTS8 1 81968 1.21999E-5 40984 0 NA
11-130275533-C-T p.Gly864Ser missense ADAMTS8 600 81830 0.00733227 40915 6 0.00856855
11-130275549-C-T p.Glu858Glu synonymous ADAMTS8 5 82066 6.09266E-5 41033 0 1.41076E-4
11-130275559-C-T p.Arg855Gln missense ADAMTS8 1 82108 1.21791E-5 41054 0 3.18634E-5
11-130275560-G-A p.Arg855* stop_gained ADAMTS8 2 82084 2.43653E-5 41042 0 1.60626E-5
11-130275562-C-T p.Arg854Lys missense ADAMTS8 1 82190 1.21669E-5 41095 0 4.01413E-6
11-130275568-C-T p.Trp852* stop_gained ADAMTS8 1 82266 1.21557E-5 41133 0 4.01371E-6
11-130275569-A-G p.Trp852Arg missense ADAMTS8 1 82272 1.21548E-5 41136 0 3.18573E-5
11-130275572-C-T p.Gly851Ser missense ADAMTS8 26 82294 3.1594E-4 41147 0 5.04032E-4
11-130275579-G-A p.Cys848Cys synonymous ADAMTS8 3 82358 3.64263E-5 41179 0 3.31752E-5
11-130275624-G-A p.His833His synonymous ADAMTS8 1 82912 1.2061E-5 41456 0 4.00808E-5
11-130275626-G-A p.His833Tyr missense ADAMTS8 1 82936 1.20575E-5 41468 0 8.28391E-6
11-130275633-C-T p.Pro830Pro synonymous ADAMTS8 3 82922 3.61786E-5 41461 0 7.21605E-5
11-130275634-G-A p.Pro830Leu missense ADAMTS8 5 82952 6.02758E-5 41476 0 6.62734E-5
11-130275645-G-A p.Asn826Asn synonymous ADAMTS8 1 82990 1.20496E-5 41495 0 NA
11-130275660-C-T p.Glu821Glu synonymous ADAMTS8 2 83044 2.40836E-5 41522 0 1.20234E-5
11-130275669-G-A p.Ser818Ser synonymous ADAMTS8 1 83062 1.20392E-5 41531 0 NA
11-130275677-T-A p.Met816Leu missense ADAMTS8 120 83098 0.00144408 41549 1 0.00356529
11-130275682-A-C p.Phe814Cys missense ADAMTS8 1 83086 1.20357E-5 41543 0 3.20659E-5
11-130275689-C-T p.Val812Met missense ADAMTS8 1 83078 1.20369E-5 41539 0 5.03525E-4
11-130275691-T-A p.Asp811Val missense ADAMTS8 1 83096 1.20343E-5 41548 0 9.11169E-5
11-130275696-A-G p.Pro809Pro synonymous ADAMTS8 1 83088 1.20354E-5 41544 0 NA
11-130275701-CA-C p.Phe807fs frameshift ADAMTS8 2 83068 2.40767E-5 41534 0 NA
11-130275711-G-A p.Tyr804Tyr synonymous ADAMTS8 1 83058 1.20398E-5 41529 0 4.01072E-6
11-130275717-G-T p.Val802Val synonymous ADAMTS8 1 83034 1.20433E-5 41517 0 8.28432E-6
11-130275723-T-TG p.Val802fs frameshift ADAMTS8 1 83012 1.20465E-5 41506 0 4.01233E-6
11-130275724-G-C p.Pro800Arg missense ADAMTS8 2 83014 2.40923E-5 41507 0 3.18451E-5
11-130275724-G-T p.Pro800Gln missense ADAMTS8 2 83014 2.40923E-5 41507 0 3.21058E-5
11-130275725-G-T p.Pro800Thr missense ADAMTS8 2 83012 2.40929E-5 41506 0 3.31389E-5
11-130275725-G-C p.Pro800Ala missense ADAMTS8 3 83014 3.61385E-5 41507 0 5.03525E-4
11-130275733-A-C p.Val797Gly missense ADAMTS8 1 82928 1.20587E-5 41464 0 NA
11-130275737-C-T p.Glu796Lys missense ADAMTS8 4 82908 4.82462E-5 41454 0 8.02549E-6
11-130275738-G-A p.Gly795Gly synonymous ADAMTS8 12 82888 1.44774E-4 41444 0 4.01416E-5
11-130275749-T-C p.Thr792Ala missense ADAMTS8 13089 82664 0.15834 41332 1150 0.147707
11-130275757-T-C p.Gln789Arg missense ADAMTS8 1 82912 1.2061E-5 41456 0 8.2883E-6
11-130275758-G-A p.Gln789* stop_gained ADAMTS8 19 82904 2.29181E-4 41452 0 7.62287E-5
11-130275762-T-C p.Thr787Thr synonymous ADAMTS8 1 82922 1.20595E-5 41461 0 6.41751E-5
11-130275784-C-T p.Arg780Gln missense ADAMTS8 3 82910 3.61838E-5 41455 0 5.61518E-5
11-130275784-C-G p.Arg780Pro missense ADAMTS8 2 82910 2.41225E-5 41455 0 NA
11-130275785-G-A p.Arg780Trp missense ADAMTS8 3 82956 3.61638E-5 41478 0 9.55353E-5
11-130275799-C-T p.Arg775His missense ADAMTS8 8 82906 9.64948E-5 41453 0 8.29187E-5
11-130275800-G-A p.Arg775Cys missense ADAMTS8 3 82920 3.61795E-5 41460 0 1.65848E-5
11-130275807-G-C p.Thr772Thr synonymous ADAMTS8 1 82952 1.20552E-5 41476 0 NA
11-130275813-G-A p.Ile770Ile synonymous ADAMTS8 8 82964 9.64274E-5 41482 1 6.3674E-5
11-130275821-C-T p.Gly768Ser missense ADAMTS8 4 83002 4.81916E-5 41501 0 6.25E-4
11-130275822-G-T p.Ser767Arg missense ADAMTS8 1 83012 1.20465E-5 41506 0 8.01983E-6
11-130275822-G-A p.Ser767Ser synonymous ADAMTS8 3 83012 3.61394E-5 41506 0 8.29669E-6
11-130275864-T-C p.Ile753Met missense ADAMTS8 6 83000 7.22892E-5 41500 0 3.60811E-5
11-130275865-A-G p.Ile753Thr missense ADAMTS8 1 83004 1.20476E-5 41502 0 1.6603E-5
11-130275873-G-A p.Ile750Ile synonymous ADAMTS8 1 83016 1.20459E-5 41508 0 3.1837E-5
11-130275887-C-T p.Gly746Ser missense ADAMTS8 7 82980 8.43577E-5 41490 0 6.64474E-5
11-130275888-G-A p.Asn745Asn synonymous ADAMTS8 8 82986 9.64018E-5 41493 0 2.22958E-4
11-130275890-T-C p.Asn745Asp missense ADAMTS8 7 82986 8.43516E-5 41493 0 4.01075E-6
11-130275909-A-G p.Ala738Ala synonymous ADAMTS8 1 83050 1.20409E-5 41525 0 NA
11-130275910-G-T p.Ala738Asp missense ADAMTS8 2 83052 2.40813E-5 41526 0 NA
11-130275912-C-T p.Thr737Thr synonymous ADAMTS8 3 83072 3.61133E-5 41536 0 NA
11-130275913-G-A p.Thr737Met missense ADAMTS8 2 83078 2.40738E-5 41539 0 4.01136E-6
11-130275924-C-T p.Leu733Leu synonymous ADAMTS8 2 83130 2.40587E-5 41565 0 NA
11-130275936-A-G p.Asp729Asp synonymous ADAMTS8 26 83178 3.12583E-4 41589 1 7.96381E-4
11-130275939-G-A p.Asn728Asn synonymous ADAMTS8 3 83180 3.60664E-5 41590 0 6.36902E-5
11-130275951-C-T p.Pro724Pro synonymous ADAMTS8 5 83186 6.01063E-5 41593 0 4.81858E-5
11-130275953-G-C p.Pro724Ala missense ADAMTS8 1 83184 1.20215E-5 41592 0 NA
11-130275957-G-C p.Ser722Arg missense ADAMTS8 1 83168 1.20239E-5 41584 0 4.01735E-6
11-130275958-C-T p.Ser722Asn missense ADAMTS8 9 83168 1.08215E-4 41584 0 6.25E-4
11-130275961-C-T p.Arg721Gln missense ADAMTS8 16 83160 1.924E-4 41580 1 6.65469E-5
11-130275962-G-A p.Arg721Trp missense ADAMTS8 1 83172 1.20233E-5 41586 0 2.8145E-5
11-130275969-C-T p.Val718Val synonymous ADAMTS8 1 83188 1.2021E-5 41594 0 NA
11-130275971-C-T p.Val718Met missense ADAMTS8 4 83170 4.80943E-5 41585 0 6.37146E-5
11-130275972-G-A p.Asp717Asp synonymous ADAMTS8 1 83170 1.20236E-5 41585 0 8.32044E-6
11-130275987-A-G p.Gly712Gly synonymous ADAMTS8 1 83130 1.20294E-5 41565 0 1.59236E-4
11-130275999-G-A p.Thr708Thr synonymous ADAMTS8 1355 83024 0.0163206 41512 10 0.0325
11-130276018-C-T p.Gly702Asp missense ADAMTS8 13 82874 1.56865E-4 41437 0 1.27364E-4
11-130276020-A-G p.Tyr701Tyr synonymous ADAMTS8 1 82866 1.20677E-5 41433 0 1.69374E-5
11-130276030-T-C c.2100-7A>G splice_region ADAMTS8 2 82712 2.41803E-5 41356 0 4.13592E-6
11-130278353-A-T c.2099+6T>A splice_region ADAMTS8 1 82328 1.21465E-5 41164 0 NA
11-130278356-C-T c.2099+3G>A splice_region ADAMTS8 1 82490 1.21227E-5 41245 0 1.61082E-5
11-130278359-T-C p.Asn700Ser missense+splice_region ADAMTS8 2 82540 2.42307E-5 41270 0 2.51906E-5
11-130278373-G-A p.Ser695Ser synonymous ADAMTS8 3 82794 3.62345E-5 41397 0 8.35282E-6
11-130278378-C-T p.Gly694Arg missense ADAMTS8 4 82898 4.82521E-5 41449 0 9.63198E-5
11-130278379-G-A p.Ser693Ser synonymous ADAMTS8 3 82944 3.6169E-5 41472 0 2.00608E-5
11-130278380-G-A p.Ser693Phe missense ADAMTS8 1 82956 1.20546E-5 41478 0 NA
11-130278384-C-A p.Val692Phe missense ADAMTS8 1 83046 1.20415E-5 41523 0 NA
11-130278387-T-C p.Lys691Glu missense ADAMTS8 3 83080 3.61098E-5 41540 0 NA
11-130278391-G-A p.Cys689Cys synonymous ADAMTS8 1 83128 1.20296E-5 41564 0 NA
11-130278398-T-C p.Asn687Ser missense ADAMTS8 1 83176 1.20227E-5 41588 0 NA
11-130278401-C-G p.Gly686Ala missense ADAMTS8 5 83188 6.01048E-5 41594 0 6.37227E-5
11-130278411-C-T p.Gly683Arg missense ADAMTS8 1 83200 1.20192E-5 41600 0 2.00367E-5
11-130278414-A-G p.Cys682Arg missense ADAMTS8 5 83176 6.01135E-5 41588 0 NA
11-130278420-C-T p.Gly680Arg missense ADAMTS8 1 83200 1.20192E-5 41600 0 2.48797E-5
11-130278421-G-A p.Cys679Cys synonymous ADAMTS8 1 83200 1.20192E-5 41600 0 3.18654E-5
11-130278437-C-T p.Arg674Gln missense ADAMTS8 2 83204 2.40373E-5 41602 0 4.14587E-5
11-130278438-G-A p.Arg674Trp missense ADAMTS8 6 83204 7.21119E-5 41602 0 1.65826E-5
11-130278442-C-T p.Ser672Ser synonymous ADAMTS8 4 83170 4.80943E-5 41585 0 3.31636E-5
11-130278443-G-A p.Ser672Leu missense ADAMTS8 4 83186 4.8085E-5 41593 0 4.00708E-5
11-130278454-A-G p.His668His synonymous ADAMTS8 133 83164 0.00159925 41582 0 0.00382385
11-130278465-C-T p.Gly665Ser missense ADAMTS8 7 83110 8.42257E-5 41555 0 3.60655E-5
11-130278466-G-A p.Ala664Ala synonymous ADAMTS8 4 83116 4.81255E-5 41558 0 6.3743E-5
11-130278485-C-T p.Arg658His missense ADAMTS8 3 83044 3.61254E-5 41522 0 5.03525E-4
11-130278523-G-T p.Gly645Gly synonymous ADAMTS8 1 82802 1.2077E-5 41401 0 NA
11-130278541-C-T c.1924-7G>A splice_region ADAMTS8 4 82756 4.83349E-5 41378 0 1.28581E-4
11-130278660-C-T c.1923+3G>A splice_region ADAMTS8 1 83258 1.20109E-5 41629 0 NA
11-130278663-C-T p.Lys641Lys splice_region+synonymous ADAMTS8 1 83262 1.20103E-5 41631 0 NA
11-130278670-T-A p.Glu639Val missense ADAMTS8 2 83270 2.40183E-5 41635 0 NA
11-130278671-C-T p.Glu639Lys missense ADAMTS8 2 83268 2.40188E-5 41634 0 6.37633E-5
11-130278672-G-A p.Phe638Phe synonymous ADAMTS8 4 83256 4.80446E-5 41628 0 3.20821E-5
11-130278676-AC-A p.Val637fs frameshift ADAMTS8 1 83284 1.20071E-5 41642 0 4.00937E-6
11-130278686-C-T p.Glu634Lys missense ADAMTS8 1 83292 1.2006E-5 41646 0 2.40548E-5
11-130278688-C-A p.Ser633Ile missense ADAMTS8 1 83304 1.20042E-5 41652 0 8.30951E-6
11-130278690-C-T p.Arg632Arg synonymous ADAMTS8 4 83310 4.80134E-5 41655 0 6.37308E-5
11-130278697-C-T p.Arg630Gln missense ADAMTS8 11 83310 1.32037E-4 41655 0 2.32701E-4
11-130278698-G-A p.Arg630Trp missense ADAMTS8 4 83312 4.80123E-5 41656 0 0.00125156
11-130278703-C-T p.Arg628Gln missense ADAMTS8 5 83308 6.00182E-5 41654 0 1.27494E-4
11-130278704-G-A p.Arg628* stop_gained ADAMTS8 3 83302 3.60135E-5 41651 0 8.31269E-6
11-130278722-G-A p.Arg622Cys missense ADAMTS8 3 83304 3.60127E-5 41652 0 6.37714E-5
11-130278726-C-A p.Arg620Arg synonymous ADAMTS8 7 83318 8.40155E-5 41659 0 4.41427E-5
11-130278727-C-T p.Arg620Gln missense ADAMTS8 5 83314 6.00139E-5 41657 0 6.37796E-5
11-130278728-G-C p.Arg620Gly missense ADAMTS8 52 83314 6.24145E-4 41657 1 6.28699E-4
11-130278728-G-A p.Arg620Trp missense ADAMTS8 37 83314 4.44103E-4 41657 0 1.34122E-4
11-130278729-G-A p.Pro619Pro synonymous ADAMTS8 1 83312 1.20031E-5 41656 0 2.51543E-5
11-130278747-C-T p.Lys613Lys synonymous ADAMTS8 4 83320 4.80077E-5 41660 0 4.03284E-6
11-130278748-T-G p.Lys613Thr missense ADAMTS8 1 83320 1.20019E-5 41660 0 NA
11-130278758-A-G p.Trp610Arg missense ADAMTS8 1 83316 1.20025E-5 41658 0 4.05016E-6
11-130278763-A-G p.Leu608Pro missense ADAMTS8 2 83320 2.40038E-5 41660 0 3.18532E-5
11-130278768-A-T p.Asn606Lys missense ADAMTS8 1 83324 1.20013E-5 41662 0 4.89548E-5
11-130278771-C-G p.Gly605Gly synonymous ADAMTS8 1 83326 1.20011E-5 41663 0 NA
11-130278773-C-T p.Gly605Arg missense ADAMTS8 601 83310 0.00721402 41655 6 0.00653458
11-130278774-G-A p.Asp604Asp synonymous ADAMTS8 11 83322 1.32018E-4 41661 0 3.46638E-5
11-130278790-T-C p.Asn599Ser missense ADAMTS8 5 83320 6.00096E-5 41660 0 4.24643E-6
11-130278791-T-A p.Asn599Tyr missense ADAMTS8 2 83322 2.40033E-5 41661 0 8.77362E-5
11-130278804-C-A p.Lys594Asn missense ADAMTS8 1 83298 1.20051E-5 41649 0 0.00100705
11-130278818-G-A p.Gln590* stop_gained ADAMTS8 1 83266 1.20097E-5 41633 0 NA
11-130278820-T-G p.Glu589Ala missense ADAMTS8 1 83264 1.201E-5 41632 0 NA
11-130281307-A-G c.1750+5T>C splice_region ADAMTS8 1380 83056 0.0166153 41528 7 0.0325
11-130281313-G-A p.Asp583Asp splice_region+synonymous ADAMTS8 31 83164 3.72757E-4 41582 0 5.03525E-4
11-130281314-T-C p.Asp583Gly missense+splice_region ADAMTS8 1 83164 1.20244E-5 41582 0 NA
11-130281315-C-CA p.Asp583fs frameshift ADAMTS8 1 83186 1.20213E-5 41593 0 NA
11-130281315-CAG-C p.Pro582fs frameshift ADAMTS8 2 83186 2.40425E-5 41593 0 3.18613E-5
11-130281316-A-AG p.Asp583fs frameshift ADAMTS8 1 83190 1.20207E-5 41595 0 1.006E-4
11-130281321-G-A p.Pro581Ser missense ADAMTS8 2 83220 2.40327E-5 41610 0 3.6169E-5
11-130281323-C-A p.Cys580Phe missense ADAMTS8 1 83220 1.20163E-5 41610 0 NA
11-130281325-T-C p.Glu579Glu synonymous ADAMTS8 1 83240 1.20135E-5 41620 0 NA
11-130281330-C-T p.Glu578Lys missense ADAMTS8 2 83254 2.40229E-5 41627 0 1.66472E-5
11-130281332-G-A p.Thr577Met missense ADAMTS8 4 83266 4.80388E-5 41633 0 7.62513E-5
11-130281359-C-T p.Arg568Gln missense ADAMTS8 3 83312 3.60092E-5 41656 0 6.3743E-5
11-130281360-G-A p.Arg568Trp missense ADAMTS8 4 83308 4.80146E-5 41654 0 2.0039E-5
11-130281380-C-G p.Gly561Ala missense ADAMTS8 9 83328 1.08007E-4 41664 0 7.70225E-4
11-130281391-C-T p.Glu557Glu synonymous ADAMTS8 1 83332 1.20002E-5 41666 0 NA
11-130281393-C-T p.Glu557Lys missense ADAMTS8 9 83330 1.08004E-4 41665 0 9.56084E-5
11-130281405-A-C p.Cys553Gly missense ADAMTS8 6 83312 7.20184E-5 41656 0 1.65623E-5
11-130281410-C-T p.Arg551His missense ADAMTS8 4 83322 4.80065E-5 41661 0 3.31241E-5
11-130281413-T-C p.His550Arg missense ADAMTS8 3 83316 3.60075E-5 41658 0 NA
11-130281425-ACTC-A p.Gly545del disruptive_inframe_deletion ADAMTS8 1 83312 1.20031E-5 41656 0 6.41972E-5
11-130281439-G-C p.Thr541Thr synonymous ADAMTS8 1 83304 1.20042E-5 41652 0 4.00741E-6
11-130281443-C-T p.Arg540Gln missense ADAMTS8 3 83296 3.60161E-5 41648 0 3.31252E-5
11-130281444-G-A p.Arg540Trp missense ADAMTS8 1 83294 1.20057E-5 41647 0 0.001875
11-130281447-A-G p.Ser539Pro missense ADAMTS8 6 83292 7.20357E-5 41646 0 1.65623E-5
11-130281455-C-T p.Gly536Glu missense ADAMTS8 1 83278 1.2008E-5 41639 0 4.00811E-6
11-130281469-C-T p.Pro531Pro synonymous ADAMTS8 151 83210 0.00181469 41605 0 0.00376012
11-130281488-G-A p.Ala525Val missense ADAMTS8 59674 80488 0.741402 40244 22153 0.744589
11-130281492-C-T p.Val524Met missense ADAMTS8 2 83072 2.40755E-5 41536 0 9.63724E-5
11-130281493-G-A p.Pro523Pro splice_region+synonymous ADAMTS8 64 83052 7.70602E-4 41526 0 0.00239006
11-130281496-C-A c.1567-1G>T splice_acceptor ADAMTS8 1 83016 1.20459E-5 41508 0 NA
11-130281498-G-C c.1567-3C>G splice_region ADAMTS8 3 82980 3.61533E-5 41490 0 NA
11-130281503-A-G c.1567-8T>C splice_region ADAMTS8 1 82936 1.20575E-5 41468 0 NA
11-130284423-C-T c.1566+3G>A splice_region ADAMTS8 1 81246 1.23083E-5 40623 0 NA
11-130284425-C-G c.1566+1G>C splice_donor ADAMTS8 1 81302 1.22998E-5 40651 0 NA
11-130284426-C-A p.Lys522Asn missense+splice_region ADAMTS8 2 81308 2.45978E-5 40654 0 NA
11-130284435-C-T p.Glu519Glu synonymous ADAMTS8 1 81482 1.22726E-5 40741 0 NA
11-130284462-G-A p.Gly510Gly synonymous ADAMTS8 2 82032 2.43807E-5 41016 0 3.18796E-5
11-130284468-T-C p.Ser508Ser synonymous ADAMTS8 1 82156 1.2172E-5 41078 0 1.62115E-5
11-130284477-G-A p.His505His synonymous ADAMTS8 1 82208 1.21643E-5 41104 0 6.37674E-5
11-130284488-C-T p.Gly502Arg missense ADAMTS8 15 82390 1.82061E-4 41195 0 6.83796E-5
11-130284492-C-T p.Pro500Pro synonymous ADAMTS8 3 82418 3.63998E-5 41209 0 0.00125
11-130284493-G-A p.Pro500Leu missense ADAMTS8 3 82424 3.63972E-5 41212 0 3.63041E-5
11-130284495-C-T p.Thr499Thr synonymous ADAMTS8 144 82430 0.00174694 41215 0 0.00436807
11-130284496-G-A p.Thr499Met missense ADAMTS8 13 82472 1.57629E-4 41236 0 1.70149E-4
11-130284500-C-T p.Gly498Ser missense ADAMTS8 2 82498 2.4243E-5 41249 0 1.69921E-5
11-130284501-G-A p.Asp497Asp synonymous ADAMTS8 11 82530 1.33285E-4 41265 0 4.50121E-4
11-130284518-T-C p.Ser492Gly missense ADAMTS8 1 82760 1.20831E-5 41380 0 NA
11-130284528-C-T p.Thr488Thr synonymous ADAMTS8 1 82848 1.20703E-5 41424 0 3.36973E-5
11-130284529-G-A p.Thr488Met missense ADAMTS8 5 82842 6.03559E-5 41421 0 6.37105E-5
11-130284543-C-T p.Glu483Glu synonymous ADAMTS8 3 82960 3.6162E-5 41480 0 3.10883E-4
11-130284548-C-A p.Ala482Ser missense ADAMTS8 24 83016 2.89101E-4 41508 0 0.005
11-130284551-C-T p.Gly481Arg missense ADAMTS8 2 83024 2.40894E-5 41512 0 NA
11-130284552-A-G p.Asp480Asp synonymous ADAMTS8 1 83028 1.20441E-5 41514 0 NA
11-130284557-TG-T p.His478fs frameshift ADAMTS8 1 83066 1.20386E-5 41533 0 3.35683E-5
11-130284575-C-T p.Ala473Thr missense ADAMTS8 5 83088 6.01772E-5 41544 0 2.51408E-5
11-130284576-G-A p.Cys472Cys synonymous ADAMTS8 2 83096 2.40685E-5 41548 0 3.18634E-5
11-130284579-G-C p.Val471Val synonymous ADAMTS8 2 83104 2.40662E-5 41552 0 8.37942E-6
11-130284582-G-A p.Asp470Asp synonymous ADAMTS8 3 83116 3.60941E-5 41558 0 2.51357E-5
11-130284584-C-A p.Asp470Tyr missense ADAMTS8 1 83118 1.20311E-5 41559 0 NA
11-130284592-G-C p.Ser467Cys missense ADAMTS8 1 83122 1.20305E-5 41561 0 NA
11-130284595-G-A p.Thr466Ile missense ADAMTS8 3 83106 3.60985E-5 41553 0 3.35137E-5
11-130284596-T-C p.Thr466Ala missense ADAMTS8 71 83088 8.54516E-4 41544 0 0.00360677
11-130284601-G-A p.Pro464Leu missense ADAMTS8 1 83100 1.20337E-5 41550 0 4.01213E-6
11-130284608-G-A p.His462Tyr missense ADAMTS8 2 83072 2.40755E-5 41536 0 NA
11-130284610-C-T p.Arg461His missense ADAMTS8 39 83058 4.69551E-4 41529 0 6.69045E-4
11-130284610-C-A p.Arg461Leu missense ADAMTS8 1 83058 1.20398E-5 41529 0 NA
11-130284612-G-A p.Phe460Phe synonymous ADAMTS8 1 83034 1.20433E-5 41517 0 NA
11-130284618-C-T p.Pro458Pro synonymous ADAMTS8 7 83010 8.43272E-5 41505 0 3.18573E-5
11-130284619-G-T p.Pro458Gln missense ADAMTS8 22 82982 2.65118E-4 41491 0 0.00151057
11-130284619-G-A p.Pro458Leu missense ADAMTS8 2 82982 2.41016E-5 41491 0 3.18573E-5
11-130284628-A-T p.Ile455Asn missense ADAMTS8 45 82914 5.42731E-4 41457 0 0.0011473
11-130284651-C-T p.Gln447Gln synonymous ADAMTS8 2 82530 2.42336E-5 41265 0 3.18552E-5
11-130284659-G-A p.Leu445Leu synonymous ADAMTS8 2 82358 2.42842E-5 41179 0 NA
11-130284664-A-G p.Met443Thr missense ADAMTS8 1 82166 1.21705E-5 41083 0 1.72271E-5
11-130284665-T-C p.Met443Val missense ADAMTS8 2 82132 2.4351E-5 41066 0 NA
11-130284667-C-T p.Arg442His missense ADAMTS8 1 82062 1.21859E-5 41031 0 2.02955E-5
11-130284668-G-A p.Arg442Cys missense ADAMTS8 229 82060 0.00279064 41030 1 0.00353063
11-130284671-C-T p.Gly441Ser missense ADAMTS8 1 82006 1.21942E-5 41003 0 8.65157E-6
11-130284672-C-T p.Pro440Pro synonymous ADAMTS8 1 81936 1.22046E-5 40968 0 1.22027E-5
11-130284673-G-A p.Pro440Leu missense ADAMTS8 1 82080 1.21832E-5 41040 0 1.73304E-5
11-130284674-G-A p.Pro440Ser missense ADAMTS8 3 82058 3.65595E-5 41029 0 NA
11-130284685-G-T p.Pro436His missense ADAMTS8 1 81856 1.22166E-5 40928 0 3.18613E-5
11-130284697-G-T p.Ala432Asp missense ADAMTS8 1 81470 1.22745E-5 40735 0 NA
11-130284697-G-A p.Ala432Val missense ADAMTS8 3 81470 3.68234E-5 40735 0 0.00316456
11-130284699-C-T p.Ala431Ala synonymous ADAMTS8 6 81354 7.37518E-5 40677 0 3.0592E-4
11-130284700-G-A p.Ala431Val missense ADAMTS8 3 81322 3.68904E-5 40661 0 6.37064E-5
11-130284702-A-G p.Ala430Ala synonymous ADAMTS8 1 81282 1.23028E-5 40641 0 NA
11-130284727-C-T p.Gly422Glu missense+splice_region ADAMTS8 5 79686 6.27463E-5 39843 0 6.37349E-5
11-130286057-C-T c.1264+1G>A splice_donor ADAMTS8 2 77418 2.58338E-5 38709 0 2.92381E-5
11-130286058-C-T p.Gly422Arg missense+splice_region ADAMTS8 2 77500 2.58065E-5 38750 0 5.78737E-5
11-130286059-G-A p.His421His splice_region+synonymous ADAMTS8 3 77606 3.86568E-5 38803 0 8.51064E-5
11-130286064-C-T p.Gly420Arg missense ADAMTS8 5 78148 6.39812E-5 39074 0 0.00203666
11-130286065-G-A p.Gly419Gly synonymous ADAMTS8 6 78194 7.67322E-5 39097 0 0.001875
11-130286066-C-T p.Gly419Asp missense ADAMTS8 10 78318 1.27685E-4 39159 0 0.0025
11-130286067-C-T p.Gly419Ser missense ADAMTS8 2 78404 2.55089E-5 39202 0 1.88225E-5
11-130286068-G-A p.Asp418Asp synonymous ADAMTS8 7 78516 8.91538E-5 39258 0 0.00152905
11-130286089-C-T p.Met411Ile missense ADAMTS8 1 79640 1.25565E-5 39820 0 NA
11-130286090-A-C p.Met411Arg missense ADAMTS8 1 79660 1.25534E-5 39830 0 NA
11-130286094-C-T p.Ala410Thr missense ADAMTS8 1 79558 1.25694E-5 39779 0 3.18451E-5
11-130286105-G-C p.Ser406Cys missense ADAMTS8 2 79724 2.50865E-5 39862 0 6.71802E-5
11-130286116-C-T p.Thr402Thr synonymous ADAMTS8 2 79644 2.51117E-5 39822 0 1.87815E-5
11-130286117-G-A p.Thr402Met missense ADAMTS8 2 79708 2.50916E-5 39854 0 6.36983E-5
11-130286131-G-C p.Val397Val synonymous ADAMTS8 2 79810 2.50595E-5 39905 0 NA
11-130286133-C-T p.Val397Ile missense ADAMTS8 1 79718 1.25442E-5 39859 0 2.91237E-5
11-130286133-C-G p.Val397Leu missense ADAMTS8 2 79718 2.50884E-5 39859 0 NA
11-130286134-G-A p.Phe396Phe synonymous ADAMTS8 24 79724 3.01039E-4 39862 0 0.00130565
11-130286140-C-T p.Pro394Pro synonymous ADAMTS8 18 79624 2.26062E-4 39812 0 4.7792E-4
11-130286145-C-T p.Ala393Thr missense ADAMTS8 2 79620 2.51193E-5 39810 0 NA
11-130286147-A-G p.Met392Thr missense ADAMTS8 3 79678 3.76515E-5 39839 0 3.18492E-5
11-130286151-C-T p.Val391Met missense ADAMTS8 103 79490 0.00129576 39745 0 0.00277035
11-130286152-G-A p.His390His synonymous ADAMTS8 3 79488 3.77415E-5 39744 0 3.18492E-5
11-130286161-G-A p.Gly387Gly synonymous ADAMTS8 8 79228 1.00974E-4 39614 0 5.24334E-6
11-130286162-C-A p.Gly387Val missense ADAMTS8 2 79208 2.525E-5 39604 0 NA
11-130286165-A-G p.Met386Thr missense ADAMTS8 1 79128 1.26378E-5 39564 0 1.49979E-4
11-130286172-C-T p.Gly384Arg missense ADAMTS8 11 78244 1.40586E-4 39122 0 0.00406504
11-130286173-G-A p.Phe383Phe synonymous ADAMTS8 1 78324 1.27675E-5 39162 0 5.37317E-6
11-130286175-A-T p.Phe383Ile missense ADAMTS8 3 78166 3.83799E-5 39083 0 3.18532E-5
11-130286181-G-A p.Arg381Trp missense ADAMTS8 2 77690 2.57433E-5 38845 0 3.25013E-5
11-130286182-T-C p.Thr380Thr synonymous ADAMTS8 1 77656 1.28773E-5 38828 0 NA
11-130286199-C-T p.Asp375Asn missense ADAMTS8 5 75404 6.63095E-5 37702 0 3.61454E-5
11-130286200-G-A p.Asp374Asp synonymous ADAMTS8 2 75134 2.66191E-5 37567 0 1.44603E-4
11-130286203-G-A p.His373His synonymous ADAMTS8 3 74486 4.0276E-5 37243 0 3.70398E-5
11-130286208-G-C p.Pro372Ala missense ADAMTS8 3 73804 4.06482E-5 36902 0 3.91543E-5
11-130286220-C-T p.Val368Ile missense ADAMTS8 1 71398 1.4006E-5 35699 0 2.17014E-4
11-130286221-G-A p.His367His synonymous ADAMTS8 1 70904 1.41036E-5 35452 0 6.11172E-6
11-130286227-T-C c.1097-2A>G splice_acceptor ADAMTS8 2 69634 2.87216E-5 34817 0 6.21396E-6
11-130286233-G-A c.1097-8C>T splice_region ADAMTS8 3 68240 4.39625E-5 34120 0 4.91642E-5
11-130286827-A-T c.1096+8T>A splice_region ADAMTS8 45 83262 5.40463E-4 41631 1 0.00293031
11-130286831-T-A c.1096+4A>T splice_region ADAMTS8 1 83276 1.20083E-5 41638 0 4.00933E-6
11-130286851-G-A p.Thr360Thr synonymous ADAMTS8 1 83278 1.2008E-5 41639 0 5.03525E-4
11-130286852-G-A p.Thr360Ile missense ADAMTS8 1 83280 1.20077E-5 41640 0 4.0075E-6
11-130286854-G-A p.His359His synonymous ADAMTS8 2 83278 2.40159E-5 41639 0 1.65675E-5
11-130286860-C-T p.Ala357Ala synonymous ADAMTS8 5 83286 6.00341E-5 41643 0 5.03525E-4
11-130286861-G-A p.Ala357Val missense ADAMTS8 1 83288 1.20065E-5 41644 0 1.00183E-4
11-130286876-T-G p.Asp352Ala missense ADAMTS8 2 83298 2.40102E-5 41649 0 8.01378E-6
11-130286878-C-T p.Glu351Glu synonymous ADAMTS8 3 83298 3.60153E-5 41649 0 2.00341E-5
11-130286880-C-T p.Glu351Lys missense ADAMTS8 45 83294 5.40255E-4 41647 1 0.00162462
11-130286881-G-A p.Ile350Ile synonymous ADAMTS8 1 83290 1.20062E-5 41645 0 4.00683E-6
11-130286886-C-T p.Val349Met missense ADAMTS8 4 83292 4.80238E-5 41646 0 7.4549E-5
11-130286899-G-A p.Asn344Asn synonymous ADAMTS8 1 83294 1.20057E-5 41647 0 NA
11-130286919-C-T p.Gly338Arg missense ADAMTS8 1 83258 1.20109E-5 41629 0 2.48583E-5
11-130286920-G-A p.Ile337Ile synonymous ADAMTS8 3 83246 3.60378E-5 41623 0 3.18898E-5
11-130286941-G-C p.Asp330Glu missense ADAMTS8 1 83174 1.2023E-5 41587 0 NA
11-130286947-C-T p.Leu328Leu synonymous ADAMTS8 4 83162 4.80989E-5 41581 0 2.80505E-5
11-130286966-A-G p.Phe322Ser missense ADAMTS8 3 83030 3.61315E-5 41515 0 4.00808E-6
11-130286973-G-A c.961-3C>T splice_region ADAMTS8 1 82960 1.2054E-5 41480 0 NA
11-130286974-C-T c.961-4G>A splice_region ADAMTS8 1 82924 1.20592E-5 41462 0 1.20283E-5
11-130286975-G-A c.961-5C>T splice_region ADAMTS8 2 82924 2.41185E-5 41462 0 8.31297E-6
11-130288943-C-T c.960+5G>A splice_region ADAMTS8 1 83004 1.20476E-5 41502 0 3.31824E-5
11-130288944-G-C c.960+4C>G splice_region ADAMTS8 1 83014 1.20462E-5 41507 0 4.01597E-6
11-130288954-G-A p.Thr318Thr synonymous ADAMTS8 1 83104 1.20331E-5 41552 0 NA
11-130288969-C-T p.Thr313Thr synonymous ADAMTS8 6 83164 7.21466E-5 41582 0 5.03525E-4
11-130288970-G-A p.Thr313Met missense ADAMTS8 2 83166 2.40483E-5 41583 0 1.65697E-5
11-130288971-T-C p.Thr313Ala missense ADAMTS8 1 83176 1.20227E-5 41588 0 8.28487E-6
11-130288974-C-G p.Asp312His missense ADAMTS8 1 83190 1.20207E-5 41595 0 8.28432E-6
11-130288975-G-A p.Tyr311Tyr synonymous ADAMTS8 74 83198 8.89444E-4 41599 0 0.00162503
11-130288978-G-C p.His310Gln missense ADAMTS8 2 83208 2.40361E-5 41604 0 3.18573E-5
11-130288979-T-C p.His310Arg missense ADAMTS8 1 83208 1.20181E-5 41604 0 8.28336E-6
11-130288981-C-T p.Glu309Glu synonymous ADAMTS8 5 83204 6.00933E-5 41602 0 1.27421E-4
11-130288982-TCTGGGTGGCGGTCG-T p.Ser304fs frameshift ADAMTS8 1 83206 1.20184E-5 41603 0 4.00728E-6
11-130288983-C-T p.Glu309Lys missense ADAMTS8 2 83214 2.40344E-5 41607 0 NA
11-130288991-C-T p.Arg306His missense ADAMTS8 3 83228 3.60456E-5 41614 0 3.18573E-5
11-130288992-G-A p.Arg306Cys missense ADAMTS8 4 83248 4.80492E-5 41624 0 4.40811E-5
11-130288992-G-C p.Arg306Gly missense ADAMTS8 1 83248 1.20123E-5 41624 0 NA
11-130288995-C-T p.Asp305Asn missense ADAMTS8 16 83248 1.92197E-4 41624 0 0.00125
11-130288996-G-A p.Ser304Ser synonymous ADAMTS8 4 83240 4.80538E-5 41620 0 9.93838E-5
11-130289005-GT-G p.Asn301fs frameshift ADAMTS8 2 83276 2.40165E-5 41638 0 8.28199E-6
11-130289011-A-T p.Arg299Arg synonymous ADAMTS8 1 83272 1.20088E-5 41636 0 NA
11-130289012-C-T p.Arg299His missense ADAMTS8 56 83272 6.72495E-4 41636 0 0.004375
11-130289012-C-G p.Arg299Pro missense ADAMTS8 1 83272 1.20088E-5 41636 0 4.14086E-5
11-130289013-G-A p.Arg299Cys missense ADAMTS8 8 83260 9.60846E-5 41630 0 8.28185E-5
11-130289015-C-T p.Arg298Gln missense ADAMTS8 1 83278 1.2008E-5 41639 0 6.36902E-5
11-130289015-C-G p.Arg298Pro missense ADAMTS8 1 83278 1.2008E-5 41639 0 NA
11-130289020-C-A p.Trp296Cys missense ADAMTS8 1 83276 1.20083E-5 41638 0 NA
11-130289026-G-A p.Cys294Cys synonymous ADAMTS8 1 83272 1.20088E-5 41636 0 NA
11-130289037-G-A p.Arg291Cys missense ADAMTS8 3 83274 3.60256E-5 41637 0 5.6101E-5
11-130289039-A-C p.Leu290Arg missense ADAMTS8 1 83278 1.2008E-5 41639 0 NA
11-130289047-C-T p.Gly287Gly synonymous ADAMTS8 3 83290 3.60187E-5 41645 0 6.25E-4
11-130289053-A-G p.Asn285Asn synonymous ADAMTS8 1 83304 1.20042E-5 41652 0 NA
11-130289058-C-T p.Asp284Asn missense ADAMTS8 3 83316 3.60075E-5 41658 0 1.6562E-5
11-130289071-G-A p.Gly279Gly synonymous ADAMTS8 224 83294 0.00268927 41647 2 0.00251762
11-130289077-T-C p.Lys277Lys synonymous ADAMTS8 2 83306 2.40079E-5 41653 0 NA
11-130289085-C-T p.Asp275Asn missense ADAMTS8 1 83304 1.20042E-5 41652 0 NA
11-130289092-G-A p.Ile272Ile synonymous ADAMTS8 2 83300 2.40096E-5 41650 0 1.20207E-5
11-130289095-C-T p.Leu271Leu synonymous ADAMTS8 1 83298 1.20051E-5 41649 0 3.1839E-5
11-130289113-C-T p.Leu265Leu synonymous ADAMTS8 1 83248 1.20123E-5 41624 0 NA
11-130289117-T-C p.Asn264Ser missense ADAMTS8 3219 83116 0.038729 41558 191 0.0619184
11-130289131-G-C p.Ile259Met missense ADAMTS8 12 83080 1.44439E-4 41540 0 8.41751E-5
11-130289139-G-T p.Pro257Thr missense ADAMTS8 1 82888 1.20645E-5 41444 0 4.00924E-6
11-130289148-A-G p.Tyr254His missense ADAMTS8 3 82562 3.63363E-5 41281 0 2.00557E-5
11-130289153-C-T p.Arg252Gln missense ADAMTS8 1 82250 1.21581E-5 41125 0 1.66434E-5
11-130289168-A-G p.Met247Thr missense ADAMTS8 10 81156 1.23219E-4 40578 0 4.77798E-4
11-130289173-C-T p.Thr245Thr synonymous ADAMTS8 2 80490 2.48478E-5 40245 0 3.18532E-5
11-130289174-G-A p.Thr245Met missense ADAMTS8 7 80382 8.70842E-5 40191 0 4.02279E-6
11-130289180-A-T p.Ile243Asn missense ADAMTS8 1 79698 1.25474E-5 39849 0 3.18573E-5
11-130297458-C-T c.720+4G>A splice_region ADAMTS8 1 78350 1.27632E-5 39175 0 7.06954E-6
11-130297465-C-A p.Leu239Leu synonymous ADAMTS8 2 78466 2.54887E-5 39233 0 1.40617E-5
11-130297470-C-T p.Asp238Asn missense ADAMTS8 1 78390 1.27567E-5 39195 0 5.94955E-5
11-130297471-G-A p.Ala237Ala synonymous ADAMTS8 2 78424 2.55024E-5 39212 0 NA
11-130297475-C-G p.Gly236Ala missense ADAMTS8 1 78728 1.2702E-5 39364 0 NA
11-130297476-C-T p.Gly236Arg missense ADAMTS8 2 78754 2.53955E-5 39377 0 6.95265E-6
11-130297477-G-A p.Tyr235Tyr synonymous ADAMTS8 3 78724 3.81078E-5 39362 0 5.67215E-5
11-130297479-A-G p.Tyr235His missense ADAMTS8 1 78882 1.26772E-5 39441 0 NA
11-130297490-A-T p.Met231Lys missense ADAMTS8 7 79414 8.81457E-5 39707 0 6.76828E-6
11-130297510-C-T p.Leu224Leu synonymous ADAMTS8 1 80012 1.24981E-5 40006 0 NA
11-130297535-G-A p.Ser216Phe missense ADAMTS8 1 80796 1.23769E-5 40398 0 NA
11-130297537-C-T p.Val215Val synonymous ADAMTS8 268 80820 0.00331601 40410 5 0.00775989
11-130297544-C-T p.Arg213Gln missense ADAMTS8 1 80900 1.23609E-5 40450 0 4.80681E-6
11-130297545-G-T p.Arg213Arg synonymous ADAMTS8 6 80908 7.41583E-5 40454 0 0.00232459
11-130297545-G-A p.Arg213Trp missense ADAMTS8 1 80908 1.23597E-5 40454 0 NA
11-130297552-C-T p.Arg210Arg synonymous ADAMTS8 2 81026 2.46834E-5 40513 0 1.86991E-5
11-130297555-A-G p.Ser209Ser synonymous ADAMTS8 1 81006 1.23448E-5 40503 0 NA
11-130297559-G-C p.Thr208Arg missense ADAMTS8 12 81050 1.48057E-4 40525 0 5.09165E-4
11-130297574-G-A p.Pro203Leu missense ADAMTS8 2 81116 2.4656E-5 40558 0 9.76276E-5
11-130297575-G-A p.Pro203Ser missense ADAMTS8 8 81082 9.86656E-5 40541 0 0.00152439
11-130297576-T-A p.Pro202Pro synonymous ADAMTS8 4 81038 4.93596E-5 40519 0 9.81788E-5
11-130297584-C-T p.Glu200Lys missense ADAMTS8 4 80944 4.94169E-5 40472 0 1.214E-4
11-130297588-A-G p.Ala198Ala synonymous ADAMTS8 1 80926 1.2357E-5 40463 0 2.40489E-5
11-130297601-T-C p.Glu194Gly missense ADAMTS8 2 81038 2.46798E-5 40519 0 2.34302E-5
11-130297602-C-CTTTTTTTT p.Glu194fs frameshift ADAMTS8 1 81046 1.23387E-5 40523 0 NA
11-130297610-T-G p.Gln191Pro missense ADAMTS8 9 81024 1.11078E-4 40512 1 9.26055E-5
11-130297617-C-T p.Glu189Lys missense ADAMTS8 5 80972 6.17497E-5 40486 0 9.35034E-6
11-130297624-G-T p.Ser186Arg missense ADAMTS8 4 80842 4.94792E-5 40421 0 0.00202634
11-130297625-C-T p.Ser186Asn missense ADAMTS8 1 80904 1.23603E-5 40452 0 NA
11-130297627-G-C p.Asp185Glu missense ADAMTS8 1 80896 1.23616E-5 40448 0 NA
11-130297629-C-T p.Asp185Asn missense ADAMTS8 2 80900 2.47219E-5 40450 0 2.23524E-5
11-130297641-C-G p.Asp181His missense ADAMTS8 4 80764 4.9527E-5 40382 0 3.19918E-5
11-130297650-C-G p.Glu178Gln missense ADAMTS8 1 80734 1.23864E-5 40367 0 9.26355E-6
11-130297652-T-C p.Gln177Arg missense ADAMTS8 1 80742 1.23851E-5 40371 0 2.15434E-5
11-130297669-C-T p.Thr171Thr synonymous ADAMTS8 1 80422 1.24344E-5 40211 0 NA
11-130297672-C-T p.Glu170Glu synonymous ADAMTS8 2 80320 2.49004E-5 40160 0 3.19244E-5
11-130297673-T-G p.Glu170Ala missense ADAMTS8 12 80222 1.49585E-4 40111 0 0.00151822
11-130297674-C-T p.Glu170Lys missense ADAMTS8 2 80250 2.49221E-5 40125 0 NA
11-130297690-T-G p.Gly164Gly synonymous ADAMTS8 3 79718 3.76327E-5 39859 0 NA
11-130297692-C-T p.Gly164Arg missense ADAMTS8 1 79738 1.25411E-5 39869 0 NA
11-130297694-C-T p.Arg163Gln missense ADAMTS8 1 79576 1.25666E-5 39788 0 1.57127E-5
11-130297695-G-T p.Arg163Arg synonymous ADAMTS8 3 79480 3.77453E-5 39740 0 NA
11-130297695-G-C p.Arg163Gly missense ADAMTS8 1 79480 1.25818E-5 39740 0 3.19693E-5
11-130297696-C-T p.Pro162Pro synonymous ADAMTS8 3 79352 3.78062E-5 39676 0 2.94395E-5
11-130297697-G-C p.Pro162Arg missense ADAMTS8 1 79430 1.25897E-5 39715 0 8.76475E-5
11-130297701-G-A p.Leu161Phe missense ADAMTS8 1 79334 1.26049E-5 39667 0 NA
11-130297706-C-T p.Arg159His missense ADAMTS8 3 78848 3.80479E-5 39424 0 0.00204082
11-130297707-G-A p.Arg159Cys missense ADAMTS8 1 78806 1.26894E-5 39403 0 NA
11-130297711-T-A p.Gly157Gly synonymous ADAMTS8 2 78412 2.55063E-5 39206 0 3.69222E-5
11-130297714-G-A p.Ala156Ala synonymous ADAMTS8 1 78254 1.27789E-5 39127 0 1.21872E-5
11-130297725-A-G p.Trp153Arg missense ADAMTS8 29 77268 3.75317E-4 38634 0 0.00108751
11-130297728-G-T p.Arg152Ser missense ADAMTS8 2 76680 2.60824E-5 38340 0 1.98276E-5
11-130297730-T-G p.Gln151Pro missense ADAMTS8 1 76636 1.30487E-5 38318 0 NA
11-130297736-C-T p.Arg149His missense ADAMTS8 2 75752 2.64019E-5 37876 0 6.39182E-5
11-130297737-G-A p.Arg149Cys missense ADAMTS8 1 75730 1.32048E-5 37865 0 3.19816E-5
11-130297738-G-A p.His148His synonymous ADAMTS8 1 75612 1.32254E-5 37806 0 1.38242E-5
11-130297740-G-A p.His148Tyr missense ADAMTS8 1 75310 1.32784E-5 37655 0 NA
11-130297744-C-A p.Gln146His missense ADAMTS8 1 74824 1.33647E-5 37412 0 5.8418E-5
11-130297748-G-C p.Ala145Gly missense ADAMTS8 3056 73924 0.0413398 36962 48 0.0760088
11-130297757-C-T p.Gly142Asp missense ADAMTS8 1 72412 1.38099E-5 36206 0 NA
11-130297762-C-A p.Ala140Ala synonymous ADAMTS8 1 71498 1.39864E-5 35749 0 2.19803E-5
11-130297787-T-G p.Glu132Ala missense ADAMTS8 1 67514 1.48117E-5 33757 0 2.11445E-4
11-130297794-C-T p.Gly130Ser missense ADAMTS8 2 66146 3.02361E-5 33073 0 6.3857E-4
11-130297812-C-A p.Gly124Cys missense ADAMTS8 1 63510 1.57456E-5 31755 0 NA
11-130297813-G-A p.Ser123Ser synonymous ADAMTS8 1 63330 1.57903E-5 31665 0 NA
11-130297837-C-A p.Ala115Ala synonymous ADAMTS8 4 58888 6.79256E-5 29444 0 7.8969E-6
11-130297838-G-T p.Ala115Glu missense ADAMTS8 1 58638 1.70538E-5 29319 0 NA
11-130297840-C-T p.Ala114Ala synonymous ADAMTS8 1 58294 1.71544E-5 29147 0 NA
11-130297857-C-T p.Glu109Lys missense ADAMTS8 1 55716 1.79482E-5 27858 0 NA
11-130297866-C-T p.Val106Met missense ADAMTS8 1 54098 1.8485E-5 27049 0 NA
11-130297867-G-A p.Thr105Thr synonymous ADAMTS8 4 53858 7.42694E-5 26929 0 NA
11-130297872-C-T p.Gly104Ser missense ADAMTS8 1 52624 1.90027E-5 26312 0 NA
11-130297872-C-G p.Gly104Arg missense ADAMTS8 1 52624 1.90027E-5 26312 0 8.03019E-6
11-130297887-C-T p.Gly99Ser missense ADAMTS8 2 50024 3.99808E-5 25012 0 9.3214E-5
11-130297889-C-A p.Arg98Leu missense ADAMTS8 1 49424 2.02331E-5 24712 0 NA
11-130297895-C-T p.Gly96Glu missense ADAMTS8 4 48642 8.22335E-5 24321 0 9.42329E-5
11-130297896-C-T p.Gly96Arg missense ADAMTS8 1 48574 2.05871E-5 24287 0 NA
11-130297900-CTCGCCCCCGG-C p.Thr91fs frameshift ADAMTS8 1 47764 2.09363E-5 23882 0 3.19264E-5
11-130297905-C-T p.Gly93Ser missense ADAMTS8 2 47154 4.24142E-5 23577 0 8.38406E-6
11-130297908-C-G p.Gly92Arg missense ADAMTS8 1 46916 2.13147E-5 23458 0 NA
11-130297917-G-A p.Arg89Trp missense ADAMTS8 43 46278 9.29167E-4 23139 0 0.00249106
11-130297922-G-A p.Ser87Phe missense ADAMTS8 3 45802 6.54993E-5 22901 0 2.47557E-5
11-130297947-ACTCGGGCGCTAGGAAGCTGTC-A p.Asp72_Glu78del conservative_inframe_deletion ADAMTS8 3 44204 6.78672E-5 22102 0 8.64304E-5
11-130297948-C-G p.Glu78Asp missense ADAMTS8 23208 42400 0.547359 21200 6547 0.584722
11-130297954-C-A p.Ala76Ala synonymous ADAMTS8 2 43554 4.592E-5 21777 0 3.27654E-4
11-130297955-G-A p.Ala76Val missense ADAMTS8 1 43530 2.29727E-5 21765 0 5.45137E-5
11-130297957-T-C p.Leu75Leu synonymous ADAMTS8 34309 40196 0.853543 20098 14723 0.873033
11-130297958-A-G p.Leu75Pro missense ADAMTS8 1 43596 2.29379E-5 21798 0 NA
11-130297969-G-A p.Asp71Asp synonymous ADAMTS8 5 42918 1.16501E-4 21459 0 9.60307E-5
11-130297976-GC-AA p.Ala69Leu missense ADAMTS8 5 42504 1.17636E-4 21252 0 NA
11-130297980-G-C p.Leu68Val missense ADAMTS8 2 42520 4.70367E-5 21260 0 NA
11-130297988-A-G p.Val65Ala missense ADAMTS8 1 42178 2.3709E-5 21089 0 NA
11-130297990-G-A p.Phe64Phe synonymous ADAMTS8 1 42072 2.37688E-5 21036 0 1.14824E-4
11-130297996-C-T p.Lys62Lys synonymous ADAMTS8 1 41874 2.38812E-5 20937 0 7.66954E-6
11-130297996-C-G p.Lys62Asn missense ADAMTS8 2 41874 4.77623E-5 20937 0 6.42096E-5
11-130297997-T-C p.Lys62Arg missense ADAMTS8 1 41840 2.39006E-5 20920 0 NA
11-130297999-G-A p.Gly61Gly synonymous ADAMTS8 1 41718 2.39705E-5 20859 0 6.43252E-5
11-130298008-G-C p.Ser58Ser synonymous ADAMTS8 2 41486 4.8209E-5 20743 0 1.25865E-4
11-130298012-A-T p.Leu57Gln missense ADAMTS8 4 41356 9.67212E-5 20678 0 8.69898E-6
11-130298036-C-G p.Ser49Thr missense ADAMTS8 2 40610 4.9249E-5 20305 0 8.22876E-4
11-130298036-C-T p.Ser49Asn missense ADAMTS8 4 40610 9.84979E-5 20305 0 5.46448E-4
11-130298049-G-A p.Arg45Trp missense ADAMTS8 1 40280 2.48262E-5 20140 0 3.28558E-5
11-130298051-G-A p.Thr44Met missense ADAMTS8 16 40238 3.97634E-4 20119 0 0.00225734
11-130298074-C-T p.Gln36Gln synonymous ADAMTS8 1 37358 2.6768E-5 18679 0 1.42288E-4
11-130298077-C-T p.Gly35Gly synonymous ADAMTS8 1 36358 2.75043E-5 18179 0 3.34605E-5
11-130298082-C-T p.Gly34Arg missense ADAMTS8 1 34788 2.87455E-5 17394 0 NA
11-130298087-G-GCGGGC p.Ala32fs frameshift ADAMTS8 2 34144 5.85754E-5 17072 0 NA
11-130298089-G-A p.Pro31Pro synonymous ADAMTS8 1 33946 2.94586E-5 16973 0 NA
11-130298095-G-A p.Ala29Ala synonymous ADAMTS8 11 33650 3.26895E-4 16825 2 NA
11-130298097-C-T p.Ala29Thr missense ADAMTS8 5 33618 1.4873E-4 16809 0 3.16634E-4
11-130298112-C-T p.Ala24Thr missense ADAMTS8 1 32500 3.07692E-5 16250 0 NA
11-130298117-GGCA-G p.Leu21del disruptive_inframe_deletion ADAMTS8 17818 32000 0.556813 16000 5157 0.469913
11-130298117-G-GGCA p.Leu21dup conservative_inframe_insertion ADAMTS8 3557 32182 0.110528 16091 169 0.149038
11-130298117-GGCAGCA-G p.Leu20_Leu21del disruptive_inframe_deletion ADAMTS8 33 32356 0.0010199 16178 0 7.19787E-5
11-130298117-GGCAGCAGCA-G p.Leu19_Leu21del disruptive_inframe_deletion ADAMTS8 6 32356 1.85437E-4 16178 0 1.07968E-4
11-130298117-G-GGCAGCAGCAGCA p.Leu18_Leu21dup conservative_inframe_insertion ADAMTS8 17 32356 5.25405E-4 16178 0 0.00320513
11-130298117-G-GGCAGCA p.Leu20_Leu21dup conservative_inframe_insertion ADAMTS8 18 32356 5.56311E-4 16178 1 0.00160256
11-130298117-G-GGCAGCAGCA p.Leu19_Leu21dup conservative_inframe_insertion ADAMTS8 6 32356 1.85437E-4 16178 0 3.95883E-4
11-130298117-G-GGCAGCAGCAGCAGCAGCAGCA p.Leu15_Leu21dup conservative_inframe_insertion ADAMTS8 1 32356 3.09062E-5 16178 0 NA
11-130298120-A-AGCG p.Leu20_Leu21insPro conservative_inframe_insertion ADAMTS8 22 26988 8.15177E-4 13494 0 7.61963E-5
11-130298135-A-AGCG p.Leu15_Leu16insPro conservative_inframe_insertion ADAMTS8 2 32024 6.24532E-5 16012 0 1.73804E-4
11-130298147-G-A p.Pro12Leu missense ADAMTS8 1 31842 3.14051E-5 15921 0 1.05686E-4
11-130298152-C-T p.Trp10* stop_gained ADAMTS8 1 31698 3.15477E-5 15849 0 NA
11-130298161-G-A p.Ala7Ala synonymous ADAMTS8 1 31794 3.14525E-5 15897 0 NA
11-130298163-C-A p.Ala7Ser missense ADAMTS8 1 31430 3.18167E-5 15715 0 7.14643E-5
11-130298168-G-C p.Pro5Arg missense ADAMTS8 1 31864 3.13834E-5 15932 0 NA
11-130298171-G-C p.Ala4Gly missense ADAMTS8 1 32028 3.12227E-5 16014 0 NA
11-130298171-G-A p.Ala4Val missense ADAMTS8 2 32028 6.24454E-5 16014 0 NA
11-130298179-C-G p.Met1? start_lost ADAMTS8 2 32816 6.09459E-5 16408 0 NA
11-130298293-A-G c.-112T>C 5_prime_UTR_premature_start_codon_gain ADAMTS8 8 33654 2.37713E-4 16827 0 0.00118941
11-130298814-C-A c.-633G>T 5_prime_UTR_premature_start_codon_gain ADAMTS8 3 148 0.0202703 74 0 0.00242192