Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 67049613 67049613 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:67049613C>T c.225C>T c.(223-225)ttC>ttT p.F75F BLCA 3 67053835 67053835 + Missense_Mutation SNP C C A TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr3:67053835C>A c.444C>A c.(442-444)gaC>gaA p.D148E BLCA 3 67054357 67054357 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:67054357T>C c.966T>C c.(964-966)aaT>aaC p.N322N BLCA 3 67058729 67058729 + Missense_Mutation SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr3:67058729G>A c.1726G>A c.(1726-1728)Gat>Aat p.D576N BRCA 3 67053690 67053690 + Missense_Mutation SNP C C T TCGA-A8-A08I-01A-11W-A019-09 TCGA-A8-A08I-10A-01W-A021-09 g.chr3:67053690C>T c.299C>T c.(298-300)tCg>tTg p.S100L BRCA 3 67053917 67053917 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr3:67053917C>T c.526C>T c.(526-528)Cgt>Tgt p.R176C BRCA 3 67054247 67054247 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:67054247G>A c.856G>A c.(856-858)Gaa>Aaa p.E286K BRCA 3 67054333 67054333 + Silent SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr3:67054333G>A c.942G>A c.(940-942)gtG>gtA p.V314V BRCA 3 67054597 67054597 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:67054597T>G c.1206T>G c.(1204-1206)ggT>ggG p.G402G BRCA 3 67058478 67058480 + In_Frame_Del DEL ATC ATC - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 g.chr3:67058478_67058480delATC c.1475_1477delATC c.(1474-1479)aatcat>aat p.H493del CESC 3 67058535 67058535 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 g.chr3:67058535G>T c.1532G>T c.(1531-1533)cGt>cTt p.R511L CHOL 3 67054577 67054577 + Missense_Mutation SNP G G A TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr3:67054577G>A c.1186G>A c.(1186-1188)Gga>Aga p.G396R COAD 3 67049465 67049465 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:67049465C>T c.77C>T c.(76-78)gCc>gTc p.A26V COAD 3 67053715 67053715 + Silent SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:67053715C>A c.324C>A c.(322-324)gcC>gcA p.A108A COAD 3 67053983 67053983 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr3:67053983A>G c.592A>G c.(592-594)Agt>Ggt p.S198G COAD 3 67053985 67053985 + Silent SNP T T C TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:67053985T>C c.594T>C c.(592-594)agT>agC p.S198S COAD 3 67054144 67054144 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:67054144G>T c.753G>T c.(751-753)gaG>gaT p.E251D COAD 3 67054330 67054330 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:67054330G>A c.939G>A c.(937-939)agG>agA p.R313R COAD 3 67054513 67054513 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:67054513A>C c.1122A>C c.(1120-1122)ccA>ccC p.P374P COAD 3 67054604 67054604 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:67054604A>G c.1213A>G c.(1213-1215)Aga>Gga p.R405G COAD 3 67054606 67054606 + Missense_Mutation SNP A A T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:67054606A>T c.1215A>T c.(1213-1215)agA>agT p.R405S COAD 3 67058348 67058348 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:67058348G>T c.1345G>T c.(1345-1347)Gaa>Taa p.E449* COAD 3 67058648 67058648 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:67058648G>A c.1645G>A c.(1645-1647)Gtc>Atc p.V549I COADREAD 3 67049465 67049465 + Missense_Mutation SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr3:67049465C>T c.77C>T c.(76-78)gCc>gTc p.A26V COADREAD 3 67053715 67053715 + Silent SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:67053715C>A c.324C>A c.(322-324)gcC>gcA p.A108A COADREAD 3 67053983 67053983 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr3:67053983A>G c.592A>G c.(592-594)Agt>Ggt p.S198G COADREAD 3 67053985 67053985 + Silent SNP T T C TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:67053985T>C c.594T>C c.(592-594)agT>agC p.S198S COADREAD 3 67054144 67054144 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:67054144G>T c.753G>T c.(751-753)gaG>gaT p.E251D COADREAD 3 67054330 67054330 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr3:67054330G>A c.939G>A c.(937-939)agG>agA p.R313R COADREAD 3 67054513 67054513 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:67054513A>C c.1122A>C c.(1120-1122)ccA>ccC p.P374P COADREAD 3 67054604 67054604 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:67054604A>G c.1213A>G c.(1213-1215)Aga>Gga p.R405G COADREAD 3 67054606 67054606 + Missense_Mutation SNP A A T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr3:67054606A>T c.1215A>T c.(1213-1215)agA>agT p.R405S COADREAD 3 67058348 67058348 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:67058348G>T c.1345G>T c.(1345-1347)Gaa>Taa p.E449* COADREAD 3 67058529 67058529 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:67058529G>T c.1526G>T c.(1525-1527)tGg>tTg p.W509L COADREAD 3 67058648 67058648 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:67058648G>A c.1645G>A c.(1645-1647)Gtc>Atc p.V549I COADREAD 3 67058648 67058648 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:67058648G>A c.1645G>A c.(1645-1647)Gtc>Atc p.V549I GBM 3 67054666 67054666 + Silent SNP C C T TCGA-27-1836-01A-01D-1494-08 TCGA-27-1836-10A-01D-1494-08 g.chr3:67054666C>T c.1275C>T c.(1273-1275)tgC>tgT p.C425C GBMLGG 3 67054104 67054104 + Missense_Mutation SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 g.chr3:67054104A>G c.713A>G c.(712-714)aAa>aGa p.K238R GBMLGG 3 67054339 67054339 + Silent SNP A A G TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr3:67054339A>G c.948A>G c.(946-948)aaA>aaG p.K316K GBMLGG 3 67054666 67054666 + Silent SNP C C T TCGA-27-1836-01A-01D-1494-08 TCGA-27-1836-10A-01D-1494-08 g.chr3:67054666C>T c.1275C>T c.(1273-1275)tgC>tgT p.C425C GBMLGG 3 67054666 67054666 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr3:67054666C>T c.1275C>T c.(1273-1275)tgC>tgT p.C425C GBMLGG 3 67058751 67058751 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr3:67058751G>A c.1748G>A c.(1747-1749)cGg>cAg p.R583Q HNSC 3 67049505 67049505 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr3:67049505C>G c.117C>G c.(115-117)ctC>ctG p.L39L HNSC 3 67054415 67054415 + Missense_Mutation SNP G G C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr3:67054415G>C c.1024G>C c.(1024-1026)Ggg>Cgg p.G342R HNSC 3 67058494 67058494 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:67058494T>C c.1491T>C c.(1489-1491)ttT>ttC p.F497F HNSC 3 67058726 67058726 + Missense_Mutation SNP C C A TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr3:67058726C>A c.1723C>A c.(1723-1725)Cca>Aca p.P575T KIPAN 3 67049417 67049417 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049417C>G c.29C>G c.(28-30)tCt>tGt p.S10C KIPAN 3 67049444 67049444 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049444C>G c.56C>G c.(55-57)tCt>tGt p.S19C KIPAN 3 67049590 67049590 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049590C>G c.202C>G c.(202-204)Ctt>Gtt p.L68V KIPAN 3 67053891 67053891 + Missense_Mutation SNP T T C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr3:67053891T>C c.500T>C c.(499-501)cTc>cCc p.L167P KIPAN 3 67054477 67054477 + Missense_Mutation SNP G G T TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr3:67054477G>T c.1086G>T c.(1084-1086)atG>atT p.M362I KIPAN 3 67058722 67058722 + Missense_Mutation SNP G G C TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr3:67058722G>C c.1719G>C c.(1717-1719)gaG>gaC p.E573D KIRC 3 67049417 67049417 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049417C>G c.29C>G c.(28-30)tCt>tGt p.S10C KIRC 3 67049444 67049444 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049444C>G c.56C>G c.(55-57)tCt>tGt p.S19C KIRC 3 67049590 67049590 + Missense_Mutation SNP C C G TCGA-B0-4710-01A-01D-1501-10 TCGA-B0-4710-11A-02D-1501-10 g.chr3:67049590C>G c.202C>G c.(202-204)Ctt>Gtt p.L68V KIRC 3 67054477 67054477 + Missense_Mutation SNP G G T TCGA-BP-4971-01A-01D-1462-08 TCGA-BP-4971-11A-01D-1462-08 g.chr3:67054477G>T c.1086G>T c.(1084-1086)atG>atT p.M362I KIRC 3 67058722 67058722 + Missense_Mutation SNP G G C TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr3:67058722G>C c.1719G>C c.(1717-1719)gaG>gaC p.E573D KIRP 3 67053891 67053891 + Missense_Mutation SNP T T C TCGA-UZ-A9PL-01A-11D-A382-10 TCGA-UZ-A9PL-10A-01D-A385-10 g.chr3:67053891T>C c.500T>C c.(499-501)cTc>cCc p.L167P LGG 3 67054104 67054104 + Missense_Mutation SNP A A G TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 g.chr3:67054104A>G c.713A>G c.(712-714)aAa>aGa p.K238R LGG 3 67054339 67054339 + Silent SNP A A G TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr3:67054339A>G c.948A>G c.(946-948)aaA>aaG p.K316K LGG 3 67054666 67054666 + Silent SNP C C T TCGA-P5-A733-01A-11D-A32B-08 TCGA-P5-A733-10A-01D-A329-08 g.chr3:67054666C>T c.1275C>T c.(1273-1275)tgC>tgT p.C425C LGG 3 67058751 67058751 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr3:67058751G>A c.1748G>A c.(1747-1749)cGg>cAg p.R583Q LIHC 3 67049479 67049479 + Missense_Mutation SNP C C T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr3:67049479C>T c.91C>T c.(91-93)Cat>Tat p.H31Y LIHC 3 67049555 67049555 + Missense_Mutation SNP A A G TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr3:67049555A>G c.167A>G c.(166-168)gAt>gGt p.D56G LIHC 3 67054129 67054129 + Missense_Mutation SNP A A T TCGA-DD-A4NH-01A-11D-A27I-10 TCGA-DD-A4NH-10A-01D-A27I-10 g.chr3:67054129A>T c.738A>T c.(736-738)gaA>gaT p.E246D LIHC 3 67054509 67054509 + Missense_Mutation SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:67054509A>T c.1118A>T c.(1117-1119)aAa>aTa p.K373I LUAD 3 67053653 67053653 + Missense_Mutation SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr3:67053653C>G c.262C>G c.(262-264)Caa>Gaa p.Q88E LUAD 3 67053770 67053770 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr3:67053770G>T c.379G>T c.(379-381)Gct>Tct p.A127S LUAD 3 67053805 67053805 + Silent SNP A A G TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr3:67053805A>G c.414A>G c.(412-414)caA>caG p.Q138Q LUAD 3 67053833 67053833 + Missense_Mutation SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr3:67053833G>T c.442G>T c.(442-444)Gac>Tac p.D148Y LUAD 3 67053973 67053973 + Missense_Mutation SNP C C A TCGA-86-8668-01A-11D-2393-08 TCGA-86-8668-10A-01D-2393-08 g.chr3:67053973C>A c.582C>A c.(580-582)gaC>gaA p.D194E LUAD 3 67054199 67054199 + Missense_Mutation SNP C C T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:67054199C>T c.808C>T c.(808-810)Cca>Tca p.P270S LUAD 3 67054205 67054205 + Missense_Mutation SNP A A T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 g.chr3:67054205A>T c.814A>T c.(814-816)Aac>Tac p.N272Y LUAD 3 67054223 67054223 + Nonsense_Mutation SNP C C T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr3:67054223C>T c.832C>T c.(832-834)Cag>Tag p.Q278* LUAD 3 67054667 67054667 + Missense_Mutation SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr3:67054667G>C c.1276G>C c.(1276-1278)Gcg>Ccg p.A426P LUAD 3 67054705 67054705 + Missense_Mutation SNP G G T TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr3:67054705G>T c.1314G>T c.(1312-1314)gaG>gaT p.E438D LUAD 3 67058585 67058585 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr3:67058585G>T c.1582G>T c.(1582-1584)Gta>Tta p.V528L LUSC 3 67054263 67054263 + Missense_Mutation SNP T T G TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr3:67054263T>G c.872T>G c.(871-873)tTt>tGt p.F291C OV 3 67054290 67054290 + Missense_Mutation SNP A A G TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 g.chr3:67054290A>G c.899A>G c.(898-900)aAg>aGg p.K300R OV 3 67054571 67054571 + Missense_Mutation SNP G G A TCGA-61-1741-01A-02W-0639-09 TCGA-61-1741-11A-01W-0639-09 g.chr3:67054571G>A c.1180G>A c.(1180-1182)Gca>Aca p.A394T OV 3 67058594 67058594 + Missense_Mutation SNP C C G TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 g.chr3:67058594C>G c.1591C>G c.(1591-1593)Cag>Gag p.Q531E PAAD 3 67054530 67054530 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:67054530G>T c.1139G>T c.(1138-1140)aGa>aTa p.R380I PAAD 3 67054666 67054666 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr3:67054666C>T c.1275C>T c.(1273-1275)tgC>tgT p.C425C PAAD 3 67058487 67058487 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:67058487G>A c.1484G>A c.(1483-1485)cGt>cAt p.R495H PCPG 3 67054375 67054375 + Silent SNP G G T TCGA-WB-A81M-01A-11D-A35I-08 TCGA-WB-A81M-10A-01D-A35G-08 g.chr3:67054375G>T c.984G>T c.(982-984)ggG>ggT p.G328G READ 3 67058529 67058529 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:67058529G>T c.1526G>T c.(1525-1527)tGg>tTg p.W509L READ 3 67058648 67058648 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:67058648G>A c.1645G>A c.(1645-1647)Gtc>Atc p.V549I SARC 3 67049586 67049586 + Missense_Mutation SNP C C A TCGA-X6-A8C5-01A-11D-A36J-09 TCGA-X6-A8C5-10A-01D-A36M-09 g.chr3:67049586C>A c.198C>A c.(196-198)aaC>aaA p.N66K SKCM 3 67053665 67053665 + Nonsense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr3:67053665C>T c.274C>T c.(274-276)Cga>Tga p.R92* SKCM 3 67053666 67053666 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:67053666G>A c.275G>A c.(274-276)cGa>cAa p.R92Q SKCM 3 67053691 67053691 + Silent SNP G G A TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr3:67053691G>A c.300G>A c.(298-300)tcG>tcA p.S100S SKCM 3 67053841 67053841 + Silent SNP G G A TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr3:67053841G>A c.450G>A c.(448-450)caG>caA p.Q150Q SKCM 3 67053896 67053896 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:67053896G>A c.505G>A c.(505-507)Gat>Aat p.D169N SKCM 3 67053899 67053899 + Nonsense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:67053899C>T c.508C>T c.(508-510)Cga>Tga p.R170* SKCM 3 67053899 67053899 + Nonsense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:67053899C>T c.508C>T c.(508-510)Cga>Tga p.R170* SKCM 3 67054066 67054066 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr3:67054066G>A c.675G>A c.(673-675)caG>caA p.Q225Q SKCM 3 67054070 67054070 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:67054070G>A c.679G>A c.(679-681)Gaa>Aaa p.E227K SKCM 3 67054126 67054126 + Missense_Mutation SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr3:67054126G>A c.735G>A c.(733-735)atG>atA p.M245I SKCM 3 67054151 67054151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:67054151C>T c.760C>T c.(760-762)Cca>Tca p.P254S SKCM 3 67054484 67054484 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr3:67054484C>T c.1093C>T c.(1093-1095)Cat>Tat p.H365Y SKCM 3 67054579 67054579 + Silent SNP A A C TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:67054579A>C c.1188A>C c.(1186-1188)ggA>ggC p.G396G SKCM 3 67054583 67054583 + Missense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr3:67054583C>T c.1192C>T c.(1192-1194)Cgt>Tgt p.R398C SKCM 3 67054691 67054691 + Missense_Mutation SNP C C T TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr3:67054691C>T c.1300C>T c.(1300-1302)Cat>Tat p.H434Y SKCM 3 67058388 67058388 + Missense_Mutation SNP G G A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr3:67058388G>A c.1385G>A c.(1384-1386)gGt>gAt p.G462D SKCM 3 67058398 67058398 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr3:67058398C>T c.1395C>T c.(1393-1395)acC>acT p.T465T SKCM 3 67058534 67058534 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:67058534C>T c.1531C>T c.(1531-1533)Cgt>Tgt p.R511C SKCM 3 67058562 67058562 + Missense_Mutation SNP C C T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr3:67058562C>T c.1559C>T c.(1558-1560)tCc>tTc p.S520F SKCM 3 67058642 67058642 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr3:67058642G>A c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K SKCM 3 67058673 67058673 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:67058673C>T c.1670C>T c.(1669-1671)tCc>tTc p.S557F SKCM 3 67058673 67058673 + Missense_Mutation SNP C C T TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr3:67058673C>T c.1670C>T c.(1669-1671)tCc>tTc p.S557F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 67049472 67049472 single base substitution C T exon_variant BLCA-CN 3 67049472 67049472 single base substitution C T intron_variant BLCA-CN 3 67049472 67049472 single base substitution C T synonymous_variant D28D 84C>T BLCA-CN 3 67049472 67049472 single base substitution C T synonymous_variant D2D 6C>T BLCA-US 3 67049613 67049613 single base substitution C T intron_variant BLCA-US 3 67049613 67049613 single base substitution C T splice_region_variant BLCA-US 3 67054357 67054357 single base substitution T C downstream_gene_variant BLCA-US 3 67054357 67054357 single base substitution T C intron_variant BLCA-US 3 67054357 67054357 single base substitution T C synonymous_variant N296N 888T>C BLCA-US 3 67054357 67054357 single base substitution T C synonymous_variant N322N 966T>C BOCA-FR 3 67048628 67048628 single base substitution A T upstream_gene_variant BRCA-EU 3 67044733 67044733 single base substitution C T upstream_gene_variant BRCA-EU 3 67044759 67044759 single base substitution C A upstream_gene_variant BRCA-EU 3 67046764 67046764 single base substitution T G upstream_gene_variant BRCA-EU 3 67046801 67046801 single base substitution C T upstream_gene_variant BRCA-EU 3 67048994 67048994 single base substitution G T intron_variant BRCA-EU 3 67048994 67048994 single base substitution G T upstream_gene_variant BRCA-EU 3 67049661 67049661 single base substitution C A intron_variant BRCA-EU 3 67050561 67050561 single base substitution A G intron_variant BRCA-EU 3 67052034 67052034 single base substitution C A intron_variant BRCA-EU 3 67052533 67052533 single base substitution C A intron_variant BRCA-EU 3 67052975 67052975 single base substitution C G intron_variant BRCA-EU 3 67054237 67054237 single base substitution G T downstream_gene_variant BRCA-EU 3 67054237 67054237 single base substitution G T exon_variant BRCA-EU 3 67054237 67054237 single base substitution G T intron_variant BRCA-EU 3 67054237 67054237 single base substitution G T missense_variant M256I 768G>T BRCA-EU 3 67054237 67054237 single base substitution G T missense_variant M282I 846G>T BRCA-EU 3 67054465 67054465 single base substitution T A downstream_gene_variant BRCA-EU 3 67054465 67054465 single base substitution T A intron_variant BRCA-EU 3 67054465 67054465 single base substitution T A missense_variant N332K 996T>A BRCA-EU 3 67054465 67054465 single base substitution T A missense_variant N358K 1074T>A BRCA-EU 3 67055027 67055027 single base substitution G A downstream_gene_variant BRCA-EU 3 67055027 67055027 single base substitution G A intron_variant BRCA-EU 3 67055360 67055360 single base substitution G C downstream_gene_variant BRCA-EU 3 67055360 67055360 single base substitution G C intron_variant BRCA-EU 3 67055545 67055545 single base substitution A C downstream_gene_variant BRCA-EU 3 67055545 67055545 single base substitution A C intron_variant BRCA-EU 3 67056686 67056686 single base substitution T C downstream_gene_variant BRCA-EU 3 67056686 67056686 single base substitution T C intron_variant BRCA-EU 3 67056989 67056989 single base substitution C A downstream_gene_variant BRCA-EU 3 67056989 67056989 single base substitution C A intron_variant BRCA-EU 3 67057204 67057204 single base substitution C G downstream_gene_variant BRCA-EU 3 67057204 67057204 single base substitution C G intron_variant BRCA-EU 3 67057253 67057253 single base substitution C A downstream_gene_variant BRCA-EU 3 67057253 67057253 single base substitution C A intron_variant BRCA-EU 3 67057325 67057325 single base substitution T G downstream_gene_variant BRCA-EU 3 67057325 67057325 single base substitution T G intron_variant BRCA-EU 3 67057419 67057419 single base substitution T G downstream_gene_variant BRCA-EU 3 67057419 67057419 single base substitution T G intron_variant BRCA-EU 3 67058982 67058982 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 67058982 67058982 single base substitution C T downstream_gene_variant BRCA-EU 3 67059268 67059268 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 67059268 67059268 single base substitution C T downstream_gene_variant BRCA-EU 3 67061045 67061045 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 67061045 67061045 single base substitution T G downstream_gene_variant BRCA-EU 3 67061227 67061227 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 67061227 67061227 single base substitution C T downstream_gene_variant BRCA-EU 3 67061337 67061337 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 67061337 67061337 single base substitution G A downstream_gene_variant BRCA-EU 3 67064156 67064156 single base substitution G A downstream_gene_variant BRCA-EU 3 67064411 67064411 single base substitution C G downstream_gene_variant BRCA-EU 3 67064853 67064853 single base substitution A C downstream_gene_variant BRCA-EU 3 67064962 67064962 single base substitution C T downstream_gene_variant BRCA-EU 3 67065513 67065513 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 67065860 67065860 single base substitution C T downstream_gene_variant BRCA-EU 3 67066294 67066294 single base substitution C G downstream_gene_variant BRCA-FR 3 67057253 67057253 single base substitution C A downstream_gene_variant BRCA-FR 3 67057253 67057253 single base substitution C A intron_variant BRCA-FR 3 67060402 67060402 single base substitution C A 3_prime_UTR_variant BRCA-FR 3 67060402 67060402 single base substitution C A downstream_gene_variant BRCA-US 3 67053690 67053690 single base substitution C T intron_variant BRCA-US 3 67053690 67053690 single base substitution C T missense_variant S100L 299C>T BRCA-US 3 67053690 67053690 single base substitution C T missense_variant S23L 68C>T BRCA-US 3 67053690 67053690 single base substitution C T missense_variant S74L 221C>T BRCA-US 3 67053917 67053917 single base substitution C T downstream_gene_variant BRCA-US 3 67053917 67053917 single base substitution C T intron_variant BRCA-US 3 67053917 67053917 single base substitution C T missense_variant R150C 448C>T BRCA-US 3 67053917 67053917 single base substitution C T missense_variant R176C 526C>T BRCA-US 3 67053917 67053917 single base substitution C T missense_variant R99C 295C>T BRCA-US 3 67054247 67054247 single base substitution G A downstream_gene_variant BRCA-US 3 67054247 67054247 single base substitution G A exon_variant BRCA-US 3 67054247 67054247 single base substitution G A intron_variant BRCA-US 3 67054247 67054247 single base substitution G A missense_variant E260K 778G>A BRCA-US 3 67054247 67054247 single base substitution G A missense_variant E286K 856G>A BRCA-US 3 67054333 67054333 single base substitution G A downstream_gene_variant BRCA-US 3 67054333 67054333 single base substitution G A intron_variant BRCA-US 3 67054333 67054333 single base substitution G A synonymous_variant V288V 864G>A BRCA-US 3 67054333 67054333 single base substitution G A synonymous_variant V314V 942G>A BRCA-US 3 67054597 67054597 single base substitution T G downstream_gene_variant BRCA-US 3 67054597 67054597 single base substitution T G intron_variant BRCA-US 3 67054597 67054597 single base substitution T G synonymous_variant G376G 1128T>G BRCA-US 3 67054597 67054597 single base substitution T G synonymous_variant G402G 1206T>G BRCA-US 3 67058478 67058480 deletion of <=200bp ATC - downstream_gene_variant BRCA-US 3 67058478 67058480 deletion of <=200bp ATC - inframe_deletion NH466N BRCA-US 3 67058478 67058480 deletion of <=200bp ATC - inframe_deletion NH492N BRCA-US 3 67058478 67058480 deletion of <=200bp ATC - inframe_deletion NH50N BTCA-JP 3 67049548 67049548 single base substitution G A exon_variant BTCA-JP 3 67049548 67049548 single base substitution G A intron_variant BTCA-JP 3 67049548 67049548 single base substitution G A missense_variant E28K 82G>A BTCA-JP 3 67049548 67049548 single base substitution G A missense_variant E54K 160G>A CESC-US 3 67048774 67048774 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 3 67048774 67048774 single base substitution C G exon_variant CESC-US 3 67048774 67048774 single base substitution C G upstream_gene_variant CESC-US 3 67058535 67058535 single base substitution G T downstream_gene_variant CESC-US 3 67058535 67058535 single base substitution G T missense_variant R485L 1454G>T CESC-US 3 67058535 67058535 single base substitution G T missense_variant R511L 1532G>T CESC-US 3 67058535 67058535 single base substitution G T missense_variant R69L 206G>T COAD-US 3 67049465 67049465 single base substitution C T 5_prime_UTR_variant COAD-US 3 67049465 67049465 single base substitution C T exon_variant COAD-US 3 67049465 67049465 single base substitution C T intron_variant COAD-US 3 67049465 67049465 single base substitution C T missense_variant A26V 77C>T COAD-US 3 67054144 67054144 single base substitution G T downstream_gene_variant COAD-US 3 67054144 67054144 single base substitution G T exon_variant COAD-US 3 67054144 67054144 single base substitution G T intron_variant COAD-US 3 67054144 67054144 single base substitution G T missense_variant E225D 675G>T COAD-US 3 67054144 67054144 single base substitution G T missense_variant E251D 753G>T COAD-US 3 67054513 67054513 single base substitution A C downstream_gene_variant COAD-US 3 67054513 67054513 single base substitution A C intron_variant COAD-US 3 67054513 67054513 single base substitution A C synonymous_variant P348P 1044A>C COAD-US 3 67054513 67054513 single base substitution A C synonymous_variant P374P 1122A>C COCA-CN 3 67049370 67049370 single base substitution C T 5_prime_UTR_variant COCA-CN 3 67049370 67049370 single base substitution C T intron_variant COCA-CN 3 67054732 67054732 single base substitution G T downstream_gene_variant COCA-CN 3 67054732 67054732 single base substitution G T intron_variant COCA-CN 3 67054732 67054732 single base substitution G T missense_variant Q421H 1263G>T COCA-CN 3 67054732 67054732 single base substitution G T missense_variant Q447H 1341G>T EOPC-DE 3 67051518 67051518 single base substitution T C intron_variant ESAD-UK 3 67043877 67043877 single base substitution A C upstream_gene_variant ESAD-UK 3 67047045 67047045 single base substitution C T upstream_gene_variant ESAD-UK 3 67048043 67048044 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 3 67048319 67048319 single base substitution A G upstream_gene_variant ESAD-UK 3 67048363 67048363 single base substitution G C upstream_gene_variant ESAD-UK 3 67048642 67048642 single base substitution T G upstream_gene_variant ESAD-UK 3 67050421 67050421 single base substitution C A intron_variant ESAD-UK 3 67051221 67051221 single base substitution T G intron_variant ESAD-UK 3 67051425 67051425 deletion of <=200bp A - intron_variant ESAD-UK 3 67056082 67056082 single base substitution C G downstream_gene_variant ESAD-UK 3 67056082 67056082 single base substitution C G intron_variant ESAD-UK 3 67058223 67058223 single base substitution T C downstream_gene_variant ESAD-UK 3 67058223 67058223 single base substitution T C intron_variant ESAD-UK 3 67059474 67059474 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 67059474 67059474 single base substitution A C downstream_gene_variant ESAD-UK 3 67065397 67065397 single base substitution C T downstream_gene_variant ESAD-UK 3 67066457 67066457 single base substitution T G downstream_gene_variant ESCA-CN 3 67054215 67054215 single base substitution G A downstream_gene_variant ESCA-CN 3 67054215 67054215 single base substitution G A exon_variant ESCA-CN 3 67054215 67054215 single base substitution G A intron_variant ESCA-CN 3 67054215 67054215 single base substitution G A missense_variant G249D 746G>A ESCA-CN 3 67054215 67054215 single base substitution G A missense_variant G275D 824G>A ESCA-CN 3 67061189 67061189 deletion of <=200bp G - 3_prime_UTR_variant ESCA-CN 3 67061189 67061189 deletion of <=200bp G - downstream_gene_variant GBM-US 3 67054666 67054666 single base substitution C T downstream_gene_variant GBM-US 3 67054666 67054666 single base substitution C T intron_variant GBM-US 3 67054666 67054666 single base substitution C T synonymous_variant C399C 1197C>T GBM-US 3 67054666 67054666 single base substitution C T synonymous_variant C425C 1275C>T KIRC-US 3 67049417 67049417 single base substitution C G 5_prime_UTR_variant KIRC-US 3 67049417 67049417 single base substitution C G exon_variant KIRC-US 3 67049417 67049417 single base substitution C G intron_variant KIRC-US 3 67049417 67049417 single base substitution C G missense_variant S10C 29C>G KIRC-US 3 67049444 67049444 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 3 67049444 67049444 single base substitution C G exon_variant KIRC-US 3 67049444 67049444 single base substitution C G intron_variant KIRC-US 3 67049444 67049444 single base substitution C G missense_variant S19C 56C>G KIRC-US 3 67049590 67049590 single base substitution C G exon_variant KIRC-US 3 67049590 67049590 single base substitution C G intron_variant KIRC-US 3 67049590 67049590 single base substitution C G missense_variant L42V 124C>G KIRC-US 3 67049590 67049590 single base substitution C G missense_variant L68V 202C>G KIRC-US 3 67054477 67054477 single base substitution G T downstream_gene_variant KIRC-US 3 67054477 67054477 single base substitution G T intron_variant KIRC-US 3 67054477 67054477 single base substitution G T missense_variant M336I 1008G>T KIRC-US 3 67054477 67054477 single base substitution G T missense_variant M362I 1086G>T KIRC-US 3 67058722 67058722 single base substitution G C downstream_gene_variant KIRC-US 3 67058722 67058722 single base substitution G C missense_variant E131D 393G>C KIRC-US 3 67058722 67058722 single base substitution G C missense_variant E547D 1641G>C KIRC-US 3 67058722 67058722 single base substitution G C missense_variant E573D 1719G>C LAML-KR 3 67058874 67058874 single base substitution A G 3_prime_UTR_variant LAML-KR 3 67058874 67058874 single base substitution A G downstream_gene_variant LGG-US 3 67054104 67054104 single base substitution A G downstream_gene_variant LGG-US 3 67054104 67054104 single base substitution A G exon_variant LGG-US 3 67054104 67054104 single base substitution A G intron_variant LGG-US 3 67054104 67054104 single base substitution A G missense_variant K161R 482A>G LGG-US 3 67054104 67054104 single base substitution A G missense_variant K212R 635A>G LGG-US 3 67054104 67054104 single base substitution A G missense_variant K238R 713A>G LICA-CN 3 67053958 67053958 single base substitution C T downstream_gene_variant LICA-CN 3 67053958 67053958 single base substitution C T intron_variant LICA-CN 3 67053958 67053958 single base substitution C T synonymous_variant L112L 336C>T LICA-CN 3 67053958 67053958 single base substitution C T synonymous_variant L163L 489C>T LICA-CN 3 67053958 67053958 single base substitution C T synonymous_variant L189L 567C>T LICA-CN 3 67058535 67058535 single base substitution G A downstream_gene_variant LICA-CN 3 67058535 67058535 single base substitution G A missense_variant R485H 1454G>A LICA-CN 3 67058535 67058535 single base substitution G A missense_variant R511H 1532G>A LICA-CN 3 67058535 67058535 single base substitution G A missense_variant R69H 206G>A LICA-FR 3 67044955 67044955 single base substitution A G upstream_gene_variant LICA-FR 3 67053038 67053038 single base substitution T G intron_variant LICA-FR 3 67053839 67053839 single base substitution C T intron_variant LICA-FR 3 67053839 67053839 single base substitution C T stop_gained Q124* 370C>T LICA-FR 3 67053839 67053839 single base substitution C T stop_gained Q150* 448C>T LICA-FR 3 67053839 67053839 single base substitution C T stop_gained Q73* 217C>T LICA-FR 3 67064966 67064966 single base substitution G A downstream_gene_variant LIHC-US 3 67049479 67049479 single base substitution C T exon_variant LIHC-US 3 67049479 67049479 single base substitution C T intron_variant LIHC-US 3 67049479 67049479 single base substitution C T missense_variant H31Y 91C>T LIHC-US 3 67049479 67049479 single base substitution C T missense_variant H5Y 13C>T LIHC-US 3 67054129 67054129 single base substitution A T downstream_gene_variant LIHC-US 3 67054129 67054129 single base substitution A T exon_variant LIHC-US 3 67054129 67054129 single base substitution A T intron_variant LIHC-US 3 67054129 67054129 single base substitution A T missense_variant E220D 660A>T LIHC-US 3 67054129 67054129 single base substitution A T missense_variant E246D 738A>T LIHC-US 3 67054509 67054509 single base substitution A T downstream_gene_variant LIHC-US 3 67054509 67054509 single base substitution A T intron_variant LIHC-US 3 67054509 67054509 single base substitution A T missense_variant K347I 1040A>T LIHC-US 3 67054509 67054509 single base substitution A T missense_variant K373I 1118A>T LINC-JP 3 67049395 67049395 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 3 67049395 67049395 single base substitution C G intron_variant LINC-JP 3 67053769 67053769 single base substitution A G intron_variant LINC-JP 3 67053769 67053769 single base substitution A G synonymous_variant A100A 300A>G LINC-JP 3 67053769 67053769 single base substitution A G synonymous_variant A126A 378A>G LINC-JP 3 67053769 67053769 single base substitution A G synonymous_variant A49A 147A>G LINC-JP 3 67059483 67059483 single base substitution C G 3_prime_UTR_variant LINC-JP 3 67059483 67059483 single base substitution C G downstream_gene_variant LINC-JP 3 67061780 67061780 single base substitution T A downstream_gene_variant LINC-JP 3 67063295 67063295 single base substitution G T downstream_gene_variant LIRI-JP 3 67043932 67043932 single base substitution T C upstream_gene_variant LIRI-JP 3 67044978 67044978 single base substitution G T upstream_gene_variant LIRI-JP 3 67046309 67046309 single base substitution T C upstream_gene_variant LIRI-JP 3 67047632 67047632 single base substitution T C upstream_gene_variant LIRI-JP 3 67047959 67047959 single base substitution A G upstream_gene_variant LIRI-JP 3 67048152 67048152 single base substitution G C upstream_gene_variant LIRI-JP 3 67049440 67049440 single base substitution C A 5_prime_UTR_variant LIRI-JP 3 67049440 67049440 single base substitution C A exon_variant LIRI-JP 3 67049440 67049440 single base substitution C A intron_variant LIRI-JP 3 67049440 67049440 single base substitution C A missense_variant P18T 52C>A LIRI-JP 3 67054337 67054337 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 67054337 67054337 deletion of <=200bp A - frameshift_variant K290 LIRI-JP 3 67054337 67054337 deletion of <=200bp A - frameshift_variant K316 LIRI-JP 3 67054337 67054337 deletion of <=200bp A - intron_variant LIRI-JP 3 67055782 67055782 single base substitution A G downstream_gene_variant LIRI-JP 3 67055782 67055782 single base substitution A G intron_variant LIRI-JP 3 67059130 67059130 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 67059130 67059130 single base substitution T G downstream_gene_variant LIRI-JP 3 67059474 67059474 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 67059474 67059474 single base substitution A G downstream_gene_variant LIRI-JP 3 67060176 67060176 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 67060176 67060176 single base substitution C T downstream_gene_variant LIRI-JP 3 67060659 67060659 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 67060659 67060659 single base substitution T C downstream_gene_variant LIRI-JP 3 67061147 67061147 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 67061147 67061147 single base substitution G A downstream_gene_variant LIRI-JP 3 67061840 67061840 single base substitution C A downstream_gene_variant LIRI-JP 3 67064116 67064116 single base substitution C T downstream_gene_variant LUSC-KR 3 67047998 67047998 single base substitution C G upstream_gene_variant LUSC-KR 3 67054000 67054000 single base substitution C T downstream_gene_variant LUSC-KR 3 67054000 67054000 single base substitution C T exon_variant LUSC-KR 3 67054000 67054000 single base substitution C T intron_variant LUSC-KR 3 67054000 67054000 single base substitution C T synonymous_variant D126D 378C>T LUSC-KR 3 67054000 67054000 single base substitution C T synonymous_variant D177D 531C>T LUSC-KR 3 67054000 67054000 single base substitution C T synonymous_variant D203D 609C>T LUSC-KR 3 67054760 67054760 single base substitution C T downstream_gene_variant LUSC-KR 3 67054760 67054760 single base substitution C T intron_variant LUSC-KR 3 67057934 67057934 single base substitution G C downstream_gene_variant LUSC-KR 3 67057934 67057934 single base substitution G C intron_variant LUSC-KR 3 67061002 67061002 single base substitution A T 3_prime_UTR_variant LUSC-KR 3 67061002 67061002 single base substitution A T downstream_gene_variant LUSC-KR 3 67061605 67061605 single base substitution T A 3_prime_UTR_variant LUSC-KR 3 67061605 67061605 single base substitution T A downstream_gene_variant LUSC-KR 3 67064744 67064744 single base substitution C A downstream_gene_variant LUSC-KR 3 67065371 67065371 single base substitution G T downstream_gene_variant LUSC-KR 3 67065637 67065637 single base substitution C T downstream_gene_variant LUSC-US 3 67054263 67054263 single base substitution T G downstream_gene_variant LUSC-US 3 67054263 67054263 single base substitution T G intron_variant LUSC-US 3 67054263 67054263 single base substitution T G missense_variant F265C 794T>G LUSC-US 3 67054263 67054263 single base substitution T G missense_variant F291C 872T>G MALY-DE 3 67046247 67046247 single base substitution A T upstream_gene_variant MALY-DE 3 67048605 67048605 single base substitution C T upstream_gene_variant MALY-DE 3 67049772 67049774 deletion of <=200bp CTT - intron_variant MALY-DE 3 67049854 67049854 single base substitution A G intron_variant MALY-DE 3 67051639 67051639 single base substitution T G intron_variant MALY-DE 3 67063163 67063163 single base substitution T A downstream_gene_variant MALY-DE 3 67065393 67065393 single base substitution A G downstream_gene_variant MELA-AU 3 67044387 67044387 single base substitution T C upstream_gene_variant MELA-AU 3 67044499 67044499 insertion of <=200bp - T upstream_gene_variant MELA-AU 3 67044502 67044502 single base substitution C T upstream_gene_variant MELA-AU 3 67044503 67044503 single base substitution C T upstream_gene_variant MELA-AU 3 67044668 67044668 single base substitution C T upstream_gene_variant MELA-AU 3 67044720 67044720 single base substitution C A upstream_gene_variant MELA-AU 3 67044824 67044824 single base substitution A G upstream_gene_variant MELA-AU 3 67045032 67045032 single base substitution C T upstream_gene_variant MELA-AU 3 67045167 67045167 single base substitution C T upstream_gene_variant MELA-AU 3 67045190 67045190 single base substitution C T upstream_gene_variant MELA-AU 3 67045330 67045330 single base substitution C T upstream_gene_variant MELA-AU 3 67045371 67045371 single base substitution T A upstream_gene_variant MELA-AU 3 67045507 67045507 single base substitution G A upstream_gene_variant MELA-AU 3 67045535 67045535 single base substitution C T upstream_gene_variant MELA-AU 3 67045761 67045761 single base substitution G A upstream_gene_variant MELA-AU 3 67045896 67045897 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 67046051 67046051 single base substitution G A upstream_gene_variant MELA-AU 3 67046058 67046058 single base substitution G A upstream_gene_variant MELA-AU 3 67046103 67046103 single base substitution C T upstream_gene_variant MELA-AU 3 67046209 67046209 single base substitution A C upstream_gene_variant MELA-AU 3 67046265 67046265 single base substitution C T upstream_gene_variant MELA-AU 3 67046279 67046279 single base substitution C T upstream_gene_variant MELA-AU 3 67046416 67046416 single base substitution G A upstream_gene_variant MELA-AU 3 67046467 67046467 single base substitution C G upstream_gene_variant MELA-AU 3 67046954 67046954 single base substitution G A upstream_gene_variant MELA-AU 3 67047013 67047013 single base substitution G A upstream_gene_variant MELA-AU 3 67047183 67047183 single base substitution G A upstream_gene_variant MELA-AU 3 67047223 67047223 single base substitution C T upstream_gene_variant MELA-AU 3 67047353 67047353 single base substitution T C upstream_gene_variant MELA-AU 3 67047471 67047471 single base substitution G A upstream_gene_variant MELA-AU 3 67047535 67047535 single base substitution C T upstream_gene_variant MELA-AU 3 67047969 67047969 single base substitution G A upstream_gene_variant MELA-AU 3 67047970 67047970 single base substitution G A upstream_gene_variant MELA-AU 3 67047987 67047987 single base substitution C T upstream_gene_variant MELA-AU 3 67048113 67048113 single base substitution G A upstream_gene_variant MELA-AU 3 67048207 67048207 single base substitution C T upstream_gene_variant MELA-AU 3 67048435 67048435 single base substitution C T upstream_gene_variant MELA-AU 3 67048537 67048537 single base substitution C T upstream_gene_variant MELA-AU 3 67048581 67048581 single base substitution G A upstream_gene_variant MELA-AU 3 67048640 67048640 single base substitution A G upstream_gene_variant MELA-AU 3 67048644 67048644 single base substitution C T upstream_gene_variant MELA-AU 3 67048646 67048646 single base substitution G A upstream_gene_variant MELA-AU 3 67048648 67048648 single base substitution G A upstream_gene_variant MELA-AU 3 67048731 67048731 single base substitution G A 5_prime_UTR_variant MELA-AU 3 67048731 67048731 single base substitution G A exon_variant MELA-AU 3 67048731 67048731 single base substitution G A upstream_gene_variant MELA-AU 3 67049666 67049666 single base substitution C T intron_variant MELA-AU 3 67050088 67050088 single base substitution C A intron_variant MELA-AU 3 67050450 67050450 single base substitution T G intron_variant MELA-AU 3 67050455 67050455 single base substitution C T intron_variant MELA-AU 3 67050851 67050851 single base substitution T C intron_variant MELA-AU 3 67050893 67050893 single base substitution T C intron_variant MELA-AU 3 67051528 67051528 single base substitution G A intron_variant MELA-AU 3 67051690 67051690 single base substitution C T intron_variant MELA-AU 3 67051837 67051837 single base substitution G A intron_variant MELA-AU 3 67051981 67051981 single base substitution G A intron_variant MELA-AU 3 67052034 67052034 single base substitution C T intron_variant MELA-AU 3 67052180 67052180 single base substitution G A intron_variant MELA-AU 3 67052310 67052310 single base substitution C T intron_variant MELA-AU 3 67052360 67052360 single base substitution A T intron_variant MELA-AU 3 67052638 67052638 single base substitution A T intron_variant MELA-AU 3 67052684 67052684 single base substitution A G intron_variant MELA-AU 3 67053387 67053387 single base substitution C T intron_variant MELA-AU 3 67053394 67053394 single base substitution G A intron_variant MELA-AU 3 67053690 67053690 single base substitution C T intron_variant MELA-AU 3 67053690 67053690 single base substitution C T missense_variant S100L 299C>T MELA-AU 3 67053690 67053690 single base substitution C T missense_variant S23L 68C>T MELA-AU 3 67053690 67053690 single base substitution C T missense_variant S74L 221C>T MELA-AU 3 67053694 67053694 single base substitution G A intron_variant MELA-AU 3 67053694 67053694 single base substitution G A missense_variant M101I 303G>A MELA-AU 3 67053694 67053694 single base substitution G A missense_variant M24I 72G>A MELA-AU 3 67053694 67053694 single base substitution G A missense_variant M75I 225G>A MELA-AU 3 67053900 67053900 single base substitution G A intron_variant MELA-AU 3 67053900 67053900 single base substitution G A missense_variant R144Q 431G>A MELA-AU 3 67053900 67053900 single base substitution G A missense_variant R170Q 509G>A MELA-AU 3 67053900 67053900 single base substitution G A missense_variant R93Q 278G>A MELA-AU 3 67053917 67053917 single base substitution C T downstream_gene_variant MELA-AU 3 67053917 67053917 single base substitution C T intron_variant MELA-AU 3 67053917 67053917 single base substitution C T missense_variant R150C 448C>T MELA-AU 3 67053917 67053917 single base substitution C T missense_variant R176C 526C>T MELA-AU 3 67053917 67053917 single base substitution C T missense_variant R99C 295C>T MELA-AU 3 67054413 67054413 single base substitution G A downstream_gene_variant MELA-AU 3 67054413 67054413 single base substitution G A intron_variant MELA-AU 3 67054413 67054413 single base substitution G A missense_variant G315E 944G>A MELA-AU 3 67054413 67054413 single base substitution G A missense_variant G341E 1022G>A MELA-AU 3 67054579 67054579 single base substitution A C downstream_gene_variant MELA-AU 3 67054579 67054579 single base substitution A C intron_variant MELA-AU 3 67054579 67054579 single base substitution A C synonymous_variant G370G 1110A>C MELA-AU 3 67054579 67054579 single base substitution A C synonymous_variant G396G 1188A>C MELA-AU 3 67054611 67054611 single base substitution C T downstream_gene_variant MELA-AU 3 67054611 67054611 single base substitution C T intron_variant MELA-AU 3 67054611 67054611 single base substitution C T missense_variant S381L 1142C>T MELA-AU 3 67054611 67054611 single base substitution C T missense_variant S407L 1220C>T MELA-AU 3 67054760 67054760 single base substitution C T downstream_gene_variant MELA-AU 3 67054760 67054760 single base substitution C T intron_variant MELA-AU 3 67054869 67054869 single base substitution C T downstream_gene_variant MELA-AU 3 67054869 67054869 single base substitution C T intron_variant MELA-AU 3 67055037 67055037 single base substitution G A downstream_gene_variant MELA-AU 3 67055037 67055037 single base substitution G A intron_variant MELA-AU 3 67055336 67055336 single base substitution C T downstream_gene_variant MELA-AU 3 67055336 67055336 single base substitution C T intron_variant MELA-AU 3 67055373 67055373 single base substitution T C downstream_gene_variant MELA-AU 3 67055373 67055373 single base substitution T C intron_variant MELA-AU 3 67055401 67055401 single base substitution A T downstream_gene_variant MELA-AU 3 67055401 67055401 single base substitution A T intron_variant MELA-AU 3 67055557 67055557 single base substitution C T downstream_gene_variant MELA-AU 3 67055557 67055557 single base substitution C T intron_variant MELA-AU 3 67055634 67055634 single base substitution C T downstream_gene_variant MELA-AU 3 67055634 67055634 single base substitution C T intron_variant MELA-AU 3 67055954 67055954 single base substitution C T downstream_gene_variant MELA-AU 3 67055954 67055954 single base substitution C T intron_variant MELA-AU 3 67056034 67056034 single base substitution C T downstream_gene_variant MELA-AU 3 67056034 67056034 single base substitution C T intron_variant MELA-AU 3 67056185 67056185 single base substitution C G downstream_gene_variant MELA-AU 3 67056185 67056185 single base substitution C G intron_variant MELA-AU 3 67056460 67056460 single base substitution G A downstream_gene_variant MELA-AU 3 67056460 67056460 single base substitution G A intron_variant MELA-AU 3 67056636 67056636 single base substitution T G downstream_gene_variant MELA-AU 3 67056636 67056636 single base substitution T G intron_variant MELA-AU 3 67056689 67056689 single base substitution G A downstream_gene_variant MELA-AU 3 67056689 67056689 single base substitution G A intron_variant MELA-AU 3 67056751 67056751 single base substitution C T downstream_gene_variant MELA-AU 3 67056751 67056751 single base substitution C T intron_variant MELA-AU 3 67056753 67056753 single base substitution G T downstream_gene_variant MELA-AU 3 67056753 67056753 single base substitution G T intron_variant MELA-AU 3 67056819 67056819 single base substitution T C downstream_gene_variant MELA-AU 3 67056819 67056819 single base substitution T C intron_variant MELA-AU 3 67056975 67056975 single base substitution C T downstream_gene_variant MELA-AU 3 67056975 67056975 single base substitution C T intron_variant MELA-AU 3 67056996 67056996 single base substitution G A downstream_gene_variant MELA-AU 3 67056996 67056996 single base substitution G A intron_variant MELA-AU 3 67057081 67057081 single base substitution G A downstream_gene_variant MELA-AU 3 67057081 67057081 single base substitution G A intron_variant MELA-AU 3 67057825 67057825 single base substitution C T downstream_gene_variant MELA-AU 3 67057825 67057825 single base substitution C T intron_variant MELA-AU 3 67057962 67057962 single base substitution C T downstream_gene_variant MELA-AU 3 67057962 67057962 single base substitution C T intron_variant MELA-AU 3 67058283 67058283 single base substitution A G downstream_gene_variant MELA-AU 3 67058283 67058283 single base substitution A G intron_variant MELA-AU 3 67058562 67058562 single base substitution C T downstream_gene_variant MELA-AU 3 67058562 67058562 single base substitution C T missense_variant S494F 1481C>T MELA-AU 3 67058562 67058562 single base substitution C T missense_variant S520F 1559C>T MELA-AU 3 67058562 67058562 single base substitution C T missense_variant S78F 233C>T MELA-AU 3 67058563 67058563 single base substitution C T downstream_gene_variant MELA-AU 3 67058563 67058563 single base substitution C T synonymous_variant S494S 1482C>T MELA-AU 3 67058563 67058563 single base substitution C T synonymous_variant S520S 1560C>T MELA-AU 3 67058563 67058563 single base substitution C T synonymous_variant S78S 234C>T MELA-AU 3 67058673 67058673 single base substitution C T downstream_gene_variant MELA-AU 3 67058673 67058673 single base substitution C T missense_variant S115F 344C>T MELA-AU 3 67058673 67058673 single base substitution C T missense_variant S531F 1592C>T MELA-AU 3 67058673 67058673 single base substitution C T missense_variant S557F 1670C>T MELA-AU 3 67058710 67058710 single base substitution G A downstream_gene_variant MELA-AU 3 67058710 67058710 single base substitution G A missense_variant M127I 381G>A MELA-AU 3 67058710 67058710 single base substitution G A missense_variant M543I 1629G>A MELA-AU 3 67058710 67058710 single base substitution G A missense_variant M569I 1707G>A MELA-AU 3 67058962 67058962 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67058962 67058962 single base substitution C T downstream_gene_variant MELA-AU 3 67058969 67058969 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67058969 67058969 single base substitution C T downstream_gene_variant MELA-AU 3 67058994 67058994 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67058994 67058994 single base substitution G A downstream_gene_variant MELA-AU 3 67059022 67059022 single base substitution A G 3_prime_UTR_variant MELA-AU 3 67059022 67059022 single base substitution A G downstream_gene_variant MELA-AU 3 67059096 67059096 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67059096 67059096 single base substitution G A downstream_gene_variant MELA-AU 3 67059193 67059193 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67059193 67059193 single base substitution G A downstream_gene_variant MELA-AU 3 67059246 67059246 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67059246 67059246 single base substitution G A downstream_gene_variant MELA-AU 3 67059272 67059272 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67059272 67059272 single base substitution C T downstream_gene_variant MELA-AU 3 67059354 67059354 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67059354 67059354 single base substitution G A downstream_gene_variant MELA-AU 3 67059380 67059380 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67059380 67059380 single base substitution C T downstream_gene_variant MELA-AU 3 67059576 67059576 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67059576 67059576 single base substitution C T downstream_gene_variant MELA-AU 3 67059611 67059611 single base substitution T C 3_prime_UTR_variant MELA-AU 3 67059611 67059611 single base substitution T C downstream_gene_variant MELA-AU 3 67059647 67059647 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67059647 67059647 single base substitution G A downstream_gene_variant MELA-AU 3 67059965 67059965 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67059965 67059965 single base substitution C T downstream_gene_variant MELA-AU 3 67060296 67060296 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67060296 67060296 single base substitution C T downstream_gene_variant MELA-AU 3 67060427 67060427 single base substitution G A 3_prime_UTR_variant MELA-AU 3 67060427 67060427 single base substitution G A downstream_gene_variant MELA-AU 3 67060753 67060753 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67060753 67060753 single base substitution C T downstream_gene_variant MELA-AU 3 67060764 67060764 single base substitution T C 3_prime_UTR_variant MELA-AU 3 67060764 67060764 single base substitution T C downstream_gene_variant MELA-AU 3 67061169 67061169 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67061169 67061169 single base substitution C T downstream_gene_variant MELA-AU 3 67061606 67061606 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67061606 67061606 single base substitution C T downstream_gene_variant MELA-AU 3 67061618 67061618 single base substitution C T 3_prime_UTR_variant MELA-AU 3 67061618 67061618 single base substitution C T downstream_gene_variant MELA-AU 3 67061967 67061967 single base substitution G T downstream_gene_variant MELA-AU 3 67061983 67061984 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 3 67062089 67062089 single base substitution C T downstream_gene_variant MELA-AU 3 67062335 67062335 single base substitution C T downstream_gene_variant MELA-AU 3 67062476 67062476 single base substitution C T downstream_gene_variant MELA-AU 3 67062510 67062510 single base substitution G A downstream_gene_variant MELA-AU 3 67062652 67062652 single base substitution C G downstream_gene_variant MELA-AU 3 67062994 67062994 single base substitution G A downstream_gene_variant MELA-AU 3 67063328 67063328 single base substitution G A downstream_gene_variant MELA-AU 3 67063452 67063452 single base substitution C T downstream_gene_variant MELA-AU 3 67063477 67063477 single base substitution C T downstream_gene_variant MELA-AU 3 67063501 67063501 single base substitution C T downstream_gene_variant MELA-AU 3 67063539 67063539 single base substitution G A downstream_gene_variant MELA-AU 3 67063582 67063582 single base substitution C T downstream_gene_variant MELA-AU 3 67063592 67063592 single base substitution C T downstream_gene_variant MELA-AU 3 67063751 67063751 single base substitution T C downstream_gene_variant MELA-AU 3 67063755 67063755 single base substitution T A downstream_gene_variant MELA-AU 3 67063884 67063884 single base substitution C T downstream_gene_variant MELA-AU 3 67063902 67063902 single base substitution C T downstream_gene_variant MELA-AU 3 67064106 67064106 single base substitution C T downstream_gene_variant MELA-AU 3 67064313 67064313 single base substitution C T downstream_gene_variant MELA-AU 3 67064372 67064372 single base substitution T G downstream_gene_variant MELA-AU 3 67064386 67064386 single base substitution G A downstream_gene_variant MELA-AU 3 67064499 67064499 single base substitution G A downstream_gene_variant MELA-AU 3 67064580 67064580 single base substitution C T downstream_gene_variant MELA-AU 3 67064604 67064604 single base substitution C T downstream_gene_variant MELA-AU 3 67064647 67064647 single base substitution C T downstream_gene_variant MELA-AU 3 67064655 67064655 single base substitution C T downstream_gene_variant MELA-AU 3 67064709 67064709 single base substitution C T downstream_gene_variant MELA-AU 3 67064711 67064711 single base substitution C T downstream_gene_variant MELA-AU 3 67064860 67064860 single base substitution C T downstream_gene_variant MELA-AU 3 67064950 67064950 single base substitution C T downstream_gene_variant MELA-AU 3 67065101 67065101 single base substitution C T downstream_gene_variant MELA-AU 3 67065154 67065154 single base substitution C T downstream_gene_variant MELA-AU 3 67065275 67065275 single base substitution C T downstream_gene_variant MELA-AU 3 67065426 67065426 single base substitution G A downstream_gene_variant MELA-AU 3 67065521 67065521 single base substitution C T downstream_gene_variant MELA-AU 3 67065724 67065724 single base substitution G A downstream_gene_variant MELA-AU 3 67066014 67066014 single base substitution C T downstream_gene_variant MELA-AU 3 67066271 67066271 single base substitution G C downstream_gene_variant MELA-AU 3 67066286 67066286 single base substitution C T downstream_gene_variant MELA-AU 3 67066315 67066315 single base substitution G A downstream_gene_variant MELA-AU 3 67066408 67066409 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 67066520 67066520 single base substitution G A downstream_gene_variant MELA-AU 3 67066544 67066544 single base substitution C T downstream_gene_variant MELA-AU 3 67066586 67066586 single base substitution C T downstream_gene_variant OV-AU 3 67048508 67048508 single base substitution A C upstream_gene_variant OV-AU 3 67050576 67050576 single base substitution A C intron_variant OV-AU 3 67053944 67053944 single base substitution G C downstream_gene_variant OV-AU 3 67053944 67053944 single base substitution G C intron_variant OV-AU 3 67053944 67053944 single base substitution G C missense_variant E108Q 322G>C OV-AU 3 67053944 67053944 single base substitution G C missense_variant E159Q 475G>C OV-AU 3 67053944 67053944 single base substitution G C missense_variant E185Q 553G>C OV-AU 3 67057309 67057309 single base substitution C G downstream_gene_variant OV-AU 3 67057309 67057309 single base substitution C G intron_variant OV-AU 3 67057989 67057989 single base substitution C T downstream_gene_variant OV-AU 3 67057989 67057989 single base substitution C T intron_variant OV-AU 3 67060101 67060101 single base substitution T C 3_prime_UTR_variant OV-AU 3 67060101 67060101 single base substitution T C downstream_gene_variant OV-US 3 67058594 67058594 single base substitution C G downstream_gene_variant OV-US 3 67058594 67058594 single base substitution C G missense_variant Q505E 1513C>G OV-US 3 67058594 67058594 single base substitution C G missense_variant Q531E 1591C>G OV-US 3 67058594 67058594 single base substitution C G missense_variant Q89E 265C>G PACA-AU 3 67045043 67045043 single base substitution C T upstream_gene_variant PACA-AU 3 67053459 67053459 single base substitution C T intron_variant PACA-AU 3 67061091 67061091 single base substitution G T 3_prime_UTR_variant PACA-AU 3 67061091 67061091 single base substitution G T downstream_gene_variant PACA-CA 3 67048687 67048687 single base substitution C T upstream_gene_variant PACA-CA 3 67053892 67053892 insertion of <=200bp - G frameshift_variant L141L? PACA-CA 3 67053892 67053892 insertion of <=200bp - G frameshift_variant L167L? PACA-CA 3 67053892 67053892 insertion of <=200bp - G frameshift_variant L90L? PACA-CA 3 67053892 67053892 insertion of <=200bp - G intron_variant PACA-CA 3 67061477 67061477 single base substitution T C 3_prime_UTR_variant PACA-CA 3 67061477 67061477 single base substitution T C downstream_gene_variant PACA-CA 3 67062226 67062226 single base substitution A T downstream_gene_variant PACA-CA 3 67063367 67063367 single base substitution G C downstream_gene_variant PACA-CA 3 67064722 67064722 single base substitution G A downstream_gene_variant PBCA-DE 3 67044227 67044227 single base substitution G A upstream_gene_variant PBCA-DE 3 67064066 67064066 single base substitution G A downstream_gene_variant PRAD-UK 3 67044098 67044098 single base substitution G T upstream_gene_variant PRAD-UK 3 67045878 67045878 single base substitution C G upstream_gene_variant PRAD-UK 3 67046266 67046266 single base substitution A T upstream_gene_variant PRAD-UK 3 67047453 67047453 single base substitution C T upstream_gene_variant PRAD-UK 3 67047462 67047462 single base substitution C A upstream_gene_variant PRAD-UK 3 67047582 67047582 single base substitution C G upstream_gene_variant PRAD-UK 3 67059930 67059930 single base substitution G C 3_prime_UTR_variant PRAD-UK 3 67059930 67059930 single base substitution G C downstream_gene_variant READ-US 3 67053843 67053843 single base substitution A C intron_variant READ-US 3 67053843 67053843 single base substitution A C missense_variant N125T 374A>C READ-US 3 67053843 67053843 single base substitution A C missense_variant N151T 452A>C READ-US 3 67053843 67053843 single base substitution A C missense_variant N74T 221A>C READ-US 3 67054634 67054634 single base substitution G A downstream_gene_variant READ-US 3 67054634 67054634 single base substitution G A intron_variant READ-US 3 67054634 67054634 single base substitution G A missense_variant D389N 1165G>A READ-US 3 67054634 67054634 single base substitution G A missense_variant D415N 1243G>A SKCA-BR 3 67044728 67044728 single base substitution G A upstream_gene_variant SKCA-BR 3 67045108 67045108 single base substitution T C upstream_gene_variant SKCA-BR 3 67048202 67048202 single base substitution G A upstream_gene_variant SKCA-BR 3 67051795 67051795 single base substitution T G intron_variant SKCA-BR 3 67054691 67054691 single base substitution C T downstream_gene_variant SKCA-BR 3 67054691 67054691 single base substitution C T intron_variant SKCA-BR 3 67054691 67054691 single base substitution C T missense_variant H408Y 1222C>T SKCA-BR 3 67054691 67054691 single base substitution C T missense_variant H434Y 1300C>T SKCA-BR 3 67055340 67055340 single base substitution T G downstream_gene_variant SKCA-BR 3 67055340 67055340 single base substitution T G intron_variant SKCA-BR 3 67055803 67055803 single base substitution C T downstream_gene_variant SKCA-BR 3 67055803 67055803 single base substitution C T intron_variant SKCA-BR 3 67056077 67056077 single base substitution C T downstream_gene_variant SKCA-BR 3 67056077 67056077 single base substitution C T intron_variant SKCA-BR 3 67056538 67056538 single base substitution T C downstream_gene_variant SKCA-BR 3 67056538 67056538 single base substitution T C intron_variant SKCA-BR 3 67056552 67056552 single base substitution G A downstream_gene_variant SKCA-BR 3 67056552 67056552 single base substitution G A intron_variant SKCA-BR 3 67057766 67057766 single base substitution G A downstream_gene_variant SKCA-BR 3 67057766 67057766 single base substitution G A intron_variant SKCA-BR 3 67059702 67059702 single base substitution A T 3_prime_UTR_variant SKCA-BR 3 67059702 67059702 single base substitution A T downstream_gene_variant SKCA-BR 3 67060296 67060296 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 67060296 67060296 single base substitution C T downstream_gene_variant SKCA-BR 3 67061356 67061356 single base substitution T G 3_prime_UTR_variant SKCA-BR 3 67061356 67061356 single base substitution T G downstream_gene_variant SKCA-BR 3 67063295 67063295 single base substitution G T downstream_gene_variant SKCA-BR 3 67063477 67063477 single base substitution C T downstream_gene_variant SKCA-BR 3 67063501 67063501 single base substitution C T downstream_gene_variant SKCA-BR 3 67064696 67064696 single base substitution G A downstream_gene_variant SKCA-BR 3 67064721 67064721 single base substitution T C downstream_gene_variant SKCA-BR 3 67064965 67064965 single base substitution C T downstream_gene_variant SKCA-BR 3 67065275 67065275 single base substitution C T downstream_gene_variant SKCA-BR 3 67065745 67065745 single base substitution T C downstream_gene_variant SKCA-BR 3 67066552 67066552 single base substitution C T downstream_gene_variant SKCM-US 3 67053665 67053665 single base substitution C T intron_variant SKCM-US 3 67053665 67053665 single base substitution C T stop_gained R15* 43C>T SKCM-US 3 67053665 67053665 single base substitution C T stop_gained R66* 196C>T SKCM-US 3 67053665 67053665 single base substitution C T stop_gained R92* 274C>T SKCM-US 3 67053666 67053666 single base substitution G A intron_variant SKCM-US 3 67053666 67053666 single base substitution G A missense_variant R15Q 44G>A SKCM-US 3 67053666 67053666 single base substitution G A missense_variant R66Q 197G>A SKCM-US 3 67053666 67053666 single base substitution G A missense_variant R92Q 275G>A SKCM-US 3 67053683 67053683 single base substitution G A intron_variant SKCM-US 3 67053683 67053683 single base substitution G A missense_variant A21T 61G>A SKCM-US 3 67053683 67053683 single base substitution G A missense_variant A72T 214G>A SKCM-US 3 67053683 67053683 single base substitution G A missense_variant A98T 292G>A SKCM-US 3 67053691 67053691 single base substitution G A intron_variant SKCM-US 3 67053691 67053691 single base substitution G A synonymous_variant S100S 300G>A SKCM-US 3 67053691 67053691 single base substitution G A synonymous_variant S23S 69G>A SKCM-US 3 67053691 67053691 single base substitution G A synonymous_variant S74S 222G>A SKCM-US 3 67053841 67053841 single base substitution G A intron_variant SKCM-US 3 67053841 67053841 single base substitution G A synonymous_variant Q124Q 372G>A SKCM-US 3 67053841 67053841 single base substitution G A synonymous_variant Q150Q 450G>A SKCM-US 3 67053841 67053841 single base substitution G A synonymous_variant Q73Q 219G>A SKCM-US 3 67053896 67053896 single base substitution G A intron_variant SKCM-US 3 67053896 67053896 single base substitution G A missense_variant D143N 427G>A SKCM-US 3 67053896 67053896 single base substitution G A missense_variant D169N 505G>A SKCM-US 3 67053896 67053896 single base substitution G A missense_variant D92N 274G>A SKCM-US 3 67053899 67053899 single base substitution C T intron_variant SKCM-US 3 67053899 67053899 single base substitution C T stop_gained R144* 430C>T SKCM-US 3 67053899 67053899 single base substitution C T stop_gained R170* 508C>T SKCM-US 3 67053899 67053899 single base substitution C T stop_gained R93* 277C>T SKCM-US 3 67054070 67054070 single base substitution G A downstream_gene_variant SKCM-US 3 67054070 67054070 single base substitution G A exon_variant SKCM-US 3 67054070 67054070 single base substitution G A intron_variant SKCM-US 3 67054070 67054070 single base substitution G A missense_variant E150K 448G>A SKCM-US 3 67054070 67054070 single base substitution G A missense_variant E201K 601G>A SKCM-US 3 67054070 67054070 single base substitution G A missense_variant E227K 679G>A SKCM-US 3 67054126 67054126 single base substitution G A downstream_gene_variant SKCM-US 3 67054126 67054126 single base substitution G A exon_variant SKCM-US 3 67054126 67054126 single base substitution G A intron_variant SKCM-US 3 67054126 67054126 single base substitution G A missense_variant M219I 657G>A SKCM-US 3 67054126 67054126 single base substitution G A missense_variant M245I 735G>A SKCM-US 3 67054151 67054151 single base substitution C T downstream_gene_variant SKCM-US 3 67054151 67054151 single base substitution C T exon_variant SKCM-US 3 67054151 67054151 single base substitution C T intron_variant SKCM-US 3 67054151 67054151 single base substitution C T missense_variant P228S 682C>T SKCM-US 3 67054151 67054151 single base substitution C T missense_variant P254S 760C>T SKCM-US 3 67054484 67054484 single base substitution C T downstream_gene_variant SKCM-US 3 67054484 67054484 single base substitution C T intron_variant SKCM-US 3 67054484 67054484 single base substitution C T missense_variant H339Y 1015C>T SKCM-US 3 67054484 67054484 single base substitution C T missense_variant H365Y 1093C>T SKCM-US 3 67054506 67054506 single base substitution C T downstream_gene_variant SKCM-US 3 67054506 67054506 single base substitution C T intron_variant SKCM-US 3 67054506 67054506 single base substitution C T missense_variant S346F 1037C>T SKCM-US 3 67054506 67054506 single base substitution C T missense_variant S372F 1115C>T SKCM-US 3 67054579 67054579 single base substitution A C downstream_gene_variant SKCM-US 3 67054579 67054579 single base substitution A C intron_variant SKCM-US 3 67054579 67054579 single base substitution A C synonymous_variant G370G 1110A>C SKCM-US 3 67054579 67054579 single base substitution A C synonymous_variant G396G 1188A>C SKCM-US 3 67054583 67054583 single base substitution C T downstream_gene_variant SKCM-US 3 67054583 67054583 single base substitution C T intron_variant SKCM-US 3 67054583 67054583 single base substitution C T missense_variant R372C 1114C>T SKCM-US 3 67054583 67054583 single base substitution C T missense_variant R398C 1192C>T SKCM-US 3 67054611 67054611 single base substitution C T downstream_gene_variant SKCM-US 3 67054611 67054611 single base substitution C T intron_variant SKCM-US 3 67054611 67054611 single base substitution C T missense_variant S381L 1142C>T SKCM-US 3 67054611 67054611 single base substitution C T missense_variant S407L 1220C>T SKCM-US 3 67054691 67054691 single base substitution C T downstream_gene_variant SKCM-US 3 67054691 67054691 single base substitution C T intron_variant SKCM-US 3 67054691 67054691 single base substitution C T missense_variant H408Y 1222C>T SKCM-US 3 67054691 67054691 single base substitution C T missense_variant H434Y 1300C>T SKCM-US 3 67058388 67058388 single base substitution G A downstream_gene_variant SKCM-US 3 67058388 67058388 single base substitution G A missense_variant G20D 59G>A SKCM-US 3 67058388 67058388 single base substitution G A missense_variant G436D 1307G>A SKCM-US 3 67058388 67058388 single base substitution G A missense_variant G462D 1385G>A SKCM-US 3 67058398 67058398 single base substitution C T downstream_gene_variant SKCM-US 3 67058398 67058398 single base substitution C T synonymous_variant T23T 69C>T SKCM-US 3 67058398 67058398 single base substitution C T synonymous_variant T439T 1317C>T SKCM-US 3 67058398 67058398 single base substitution C T synonymous_variant T465T 1395C>T SKCM-US 3 67058534 67058534 single base substitution C T downstream_gene_variant SKCM-US 3 67058534 67058534 single base substitution C T missense_variant R485C 1453C>T SKCM-US 3 67058534 67058534 single base substitution C T missense_variant R511C 1531C>T SKCM-US 3 67058534 67058534 single base substitution C T missense_variant R69C 205C>T SKCM-US 3 67058562 67058562 single base substitution C T downstream_gene_variant SKCM-US 3 67058562 67058562 single base substitution C T missense_variant S494F 1481C>T SKCM-US 3 67058562 67058562 single base substitution C T missense_variant S520F 1559C>T SKCM-US 3 67058562 67058562 single base substitution C T missense_variant S78F 233C>T SKCM-US 3 67058642 67058642 single base substitution G A downstream_gene_variant SKCM-US 3 67058642 67058642 single base substitution G A missense_variant E105K 313G>A SKCM-US 3 67058642 67058642 single base substitution G A missense_variant E521K 1561G>A SKCM-US 3 67058642 67058642 single base substitution G A missense_variant E547K 1639G>A SKCM-US 3 67058673 67058673 single base substitution C T downstream_gene_variant SKCM-US 3 67058673 67058673 single base substitution C T missense_variant S115F 344C>T SKCM-US 3 67058673 67058673 single base substitution C T missense_variant S531F 1592C>T SKCM-US 3 67058673 67058673 single base substitution C T missense_variant S557F 1670C>T STAD-US 3 67049611 67049611 single base substitution T C exon_variant STAD-US 3 67049611 67049611 single base substitution T C intron_variant STAD-US 3 67049611 67049611 single base substitution T C missense_variant F49L 145T>C STAD-US 3 67049611 67049611 single base substitution T C missense_variant F75L 223T>C STAD-US 3 67053771 67053771 single base substitution C T intron_variant STAD-US 3 67053771 67053771 single base substitution C T missense_variant A101V 302C>T STAD-US 3 67053771 67053771 single base substitution C T missense_variant A127V 380C>T STAD-US 3 67053771 67053771 single base substitution C T missense_variant A50V 149C>T STAD-US 3 67054650 67054650 single base substitution G A downstream_gene_variant STAD-US 3 67054650 67054650 single base substitution G A intron_variant STAD-US 3 67054650 67054650 single base substitution G A missense_variant C394Y 1181G>A STAD-US 3 67054650 67054650 single base substitution G A missense_variant C420Y 1259G>A STAD-US 3 67054660 67054663 deletion of <=200bp TGTT - downstream_gene_variant STAD-US 3 67054660 67054663 deletion of <=200bp TGTT - frameshift_variant TV397 STAD-US 3 67054660 67054663 deletion of <=200bp TGTT - frameshift_variant TV423 STAD-US 3 67054660 67054663 deletion of <=200bp TGTT - intron_variant STAD-US 3 67058677 67058677 single base substitution T A downstream_gene_variant STAD-US 3 67058677 67058677 single base substitution T A synonymous_variant L116L 348T>A STAD-US 3 67058677 67058677 single base substitution T A synonymous_variant L532L 1596T>A STAD-US 3 67058677 67058677 single base substitution T A synonymous_variant L558L 1674T>A STAD-US 3 67058751 67058751 single base substitution G A downstream_gene_variant STAD-US 3 67058751 67058751 single base substitution G A missense_variant R141Q 422G>A STAD-US 3 67058751 67058751 single base substitution G A missense_variant R557Q 1670G>A STAD-US 3 67058751 67058751 single base substitution G A missense_variant R583Q 1748G>A THCA-SA 3 67049461 67049461 single base substitution G A 5_prime_UTR_variant THCA-SA 3 67049461 67049461 single base substitution G A exon_variant THCA-SA 3 67049461 67049461 single base substitution G A intron_variant THCA-SA 3 67049461 67049461 single base substitution G A missense_variant D25N 73G>A THCA-US 3 67058637 67058637 single base substitution T C downstream_gene_variant THCA-US 3 67058637 67058637 single base substitution T C missense_variant V103A 308T>C THCA-US 3 67058637 67058637 single base substitution T C missense_variant V519A 1556T>C THCA-US 3 67058637 67058637 single base substitution T C missense_variant V545A 1634T>C UCEC-US 3 67049548 67049548 single base substitution G T exon_variant UCEC-US 3 67049548 67049548 single base substitution G T intron_variant UCEC-US 3 67049548 67049548 single base substitution G T stop_gained E28* 82G>T UCEC-US 3 67049548 67049548 single base substitution G T stop_gained E54* 160G>T UCEC-US 3 67053657 67053657 single base substitution A C intron_variant UCEC-US 3 67053657 67053657 single base substitution A C missense_variant K12T 35A>C UCEC-US 3 67053657 67053657 single base substitution A C missense_variant K63T 188A>C UCEC-US 3 67053657 67053657 single base substitution A C missense_variant K89T 266A>C UCEC-US 3 67053666 67053666 single base substitution G T intron_variant UCEC-US 3 67053666 67053666 single base substitution G T missense_variant R15L 44G>T UCEC-US 3 67053666 67053666 single base substitution G T missense_variant R66L 197G>T UCEC-US 3 67053666 67053666 single base substitution G T missense_variant R92L 275G>T UCEC-US 3 67053841 67053841 single base substitution G T intron_variant UCEC-US 3 67053841 67053841 single base substitution G T missense_variant Q124H 372G>T UCEC-US 3 67053841 67053841 single base substitution G T missense_variant Q150H 450G>T UCEC-US 3 67053841 67053841 single base substitution G T missense_variant Q73H 219G>T UCEC-US 3 67053970 67053970 single base substitution A C downstream_gene_variant UCEC-US 3 67053970 67053970 single base substitution A C exon_variant UCEC-US 3 67053970 67053970 single base substitution A C intron_variant UCEC-US 3 67053970 67053970 single base substitution A C missense_variant K116N 348A>C UCEC-US 3 67053970 67053970 single base substitution A C missense_variant K167N 501A>C UCEC-US 3 67053970 67053970 single base substitution A C missense_variant K193N 579A>C UCEC-US 3 67054001 67054001 single base substitution G A downstream_gene_variant UCEC-US 3 67054001 67054001 single base substitution G A exon_variant UCEC-US 3 67054001 67054001 single base substitution G A intron_variant UCEC-US 3 67054001 67054001 single base substitution G A missense_variant D127N 379G>A UCEC-US 3 67054001 67054001 single base substitution G A missense_variant D178N 532G>A UCEC-US 3 67054001 67054001 single base substitution G A missense_variant D204N 610G>A UCEC-US 3 67054146 67054146 single base substitution A C downstream_gene_variant UCEC-US 3 67054146 67054146 single base substitution A C exon_variant UCEC-US 3 67054146 67054146 single base substitution A C intron_variant UCEC-US 3 67054146 67054146 single base substitution A C missense_variant K226T 677A>C UCEC-US 3 67054146 67054146 single base substitution A C missense_variant K252T 755A>C UCEC-US 3 67054474 67054474 single base substitution G A downstream_gene_variant UCEC-US 3 67054474 67054474 single base substitution G A intron_variant UCEC-US 3 67054474 67054474 single base substitution G A stop_gained W335* 1005G>A UCEC-US 3 67054474 67054474 single base substitution G A stop_gained W361* 1083G>A UCEC-US 3 67054615 67054615 single base substitution A C downstream_gene_variant UCEC-US 3 67054615 67054615 single base substitution A C intron_variant UCEC-US 3 67054615 67054615 single base substitution A C synonymous_variant L382L 1146A>C UCEC-US 3 67054615 67054615 single base substitution A C synonymous_variant L408L 1224A>C UCEC-US 3 67054645 67054645 single base substitution G T downstream_gene_variant UCEC-US 3 67054645 67054645 single base substitution G T intron_variant UCEC-US 3 67054645 67054645 single base substitution G T missense_variant E392D 1176G>T UCEC-US 3 67054645 67054645 single base substitution G T missense_variant E418D 1254G>T UCEC-US 3 67058487 67058487 single base substitution G A downstream_gene_variant UCEC-US 3 67058487 67058487 single base substitution G A missense_variant R469H 1406G>A UCEC-US 3 67058487 67058487 single base substitution G A missense_variant R495H 1484G>A UCEC-US 3 67058487 67058487 single base substitution G A missense_variant R53H 158G>A UCEC-US 3 67058507 67058507 single base substitution T C downstream_gene_variant UCEC-US 3 67058507 67058507 single base substitution T C missense_variant Y476H 1426T>C UCEC-US 3 67058507 67058507 single base substitution T C missense_variant Y502H 1504T>C UCEC-US 3 67058507 67058507 single base substitution T C missense_variant Y60H 178T>C UCEC-US 3 67058664 67058664 single base substitution G T downstream_gene_variant UCEC-US 3 67058664 67058664 single base substitution G T missense_variant R112I 335G>T UCEC-US 3 67058664 67058664 single base substitution G T missense_variant R528I 1583G>T UCEC-US 3 67058664 67058664 single base substitution G T missense_variant R554I 1661G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-6452-01 COSM4119937 c.1181G>A p.C394Y Substitution - Missense 3:67004226-67004226 + TCGA-BS-A0UV-01 COSM1594052 c.160G>T p.E54* Substitution - Nonsense 3:66999124-66999124 + SJOS010_M COSM5024287 c.1151C>G p.S384C Substitution - Missense 3:67004196-67004196 + TCGA-BJ-A290-01 COSM3373290 c.1634T>C p.V545A Substitution - Missense 3:67008213-67008213 + 2492722 COSM3597189 c.1670C>T p.S557F Substitution - Missense 3:67008249-67008249 + TCGA-24-1413-01 COSM75068 c.1513C>G p.Q505E Substitution - Missense 3:67008170-67008170 + RK109_C01 COSM1633315 c.946delA p.K316fs*9 Deletion - Frameshift 3:67003913-67003913 + TCGA-EE-A181-06 COSM3597167 c.508C>T p.R170* Substitution - Nonsense 3:67003475-67003475 + 46M COSM5588088 c.643G>A p.E215K Substitution - Missense 3:67003610-67003610 + CSCC-40-T COSM4571276 c.342T>C p.A114A Substitution - coding silent 3:67003387-67003387 + CSCC-56-T COSM4466642 c.1445C>T p.S482F Substitution - Missense 3:67008024-67008024 + HCC075T COSM5821949 c.567C>T p.L189L Substitution - coding silent 3:67003534-67003534 + TCGA-D3-A51E-06 COSM3597181 c.1385G>A p.G462D Substitution - Missense 3:67007964-67007964 + TCGA-BS-A0UV-01 COSM1048203 c.82G>T p.E28* Substitution - Nonsense 3:66999124-66999124 + 19 COSM5746144 c.1237T>C p.C413R Substitution - Missense 3:67004204-67004204 + TCGA-B5-A11N-01 COSM1594050 c.275G>T p.R92L Substitution - Missense 3:67003242-67003242 + Au4 COSM3597178 c.1142C>T p.S381L Substitution - Missense 3:67004187-67004187 + HT115 COSM2784195 c.1334G>A p.R445K Substitution - Missense 3:67007991-67007991 + TCGA-AP-A0LM-01 COSM1048215 c.1583G>T p.R528I Substitution - Missense 3:67008240-67008240 + EV003-R9 COSM4410684 c.1723C>T p.P575S Substitution - Missense 3:67008302-67008302 + CSCC-45-T COSM4482680 c.262C>T p.Q88* Substitution - Nonsense 3:67003229-67003229 + ESO-708 COSM1255215 c.318T>C p.I106I Substitution - coding silent 3:67003363-67003363 + TCGA-F5-6814-01 COSM3427843 c.452A>C p.N151T Substitution - Missense 3:67003419-67003419 + TCGA-BJ-A290-01 COSM3373291 c.1556T>C p.V519A Substitution - Missense 3:67008213-67008213 + Sample_1 COSM5021412 c.535T>C p.F179L Substitution - Missense 3:67003502-67003502 + SJOS010_M COSM5024286 c.1229C>G p.S410C Substitution - Missense 3:67004196-67004196 + CHC2208T COSM4953101 c.370C>T p.Q124* Substitution - Nonsense 3:67003415-67003415 + PT48 COSM5931325 c.1399C>T p.H467Y Substitution - Missense 3:67008056-67008056 + TCGA-BS-A0UF-01 COSM1594045 c.1083G>A p.W361* Substitution - Nonsense 3:67004050-67004050 + TCGA-D3-A3C1-06 COSM3597187 c.1639G>A p.E547K Substitution - Missense 3:67008218-67008218 + Mx38 COSM32289 c.1136G>A p.R379K Substitution - Missense 3:67004181-67004181 + TCGA-AX-A0J0-01 COSM1048207 c.501A>C p.K167N Substitution - Missense 3:67003546-67003546 + TCGA-E2-A15P-01 COSM446990 c.1397_1399delATC p.H467delH Deletion - In frame 3:67008054-67008056 + PT36 COSM5915173 c.1354C>T p.L452F Substitution - Missense 3:67007933-67007933 + C037 COSM2784116 c.196C>T p.R66* Substitution - Nonsense 3:67003241-67003241 + TCGA-27-1836-01 COSM3408861 c.1275C>T p.C425C Substitution - coding silent 3:67004242-67004242 + TCGA-B0-4710-01 COSM1137093 c.202C>G p.L68V Substitution - Missense 3:66999166-66999166 + TCGA-B0-4710-01 COSM480547 c.124C>G p.L42V Substitution - Missense 3:66999166-66999166 + 2492725 COSM2784208 c.1780C>T p.P594S Substitution - Missense 3:67008359-67008359 + T1743 COSM3597163 c.300G>A p.S100S Substitution - coding silent 3:67003267-67003267 + CSCC-40-T COSM4571275 c.420T>C p.A140A Substitution - coding silent 3:67003387-67003387 + HCC155 COSM3660702 c.378A>G p.A126A Substitution - coding silent 3:67003345-67003345 + TCGA-D3-A2J7-06 COSM3597166 c.372G>A p.Q124Q Substitution - coding silent 3:67003417-67003417 + BRC29 COSM5025970 c.84C>A p.D28E Substitution - Missense 3:66999048-66999048 + 2492726 COSM2784208 c.1780C>T p.P594S Substitution - Missense 3:67008359-67008359 + C037 COSM2784115 c.274C>T p.R92* Substitution - Nonsense 3:67003241-67003241 + TCGA-E1-5305-01 COSM3974563 c.635A>G p.K212R Substitution - Missense 3:67003680-67003680 + ESCC_163 COSM5648056 c.1181G>T p.C394F Substitution - Missense 3:67004226-67004226 + 587342 COSM1211392 c.1602A>T p.Q534H Substitution - Missense 3:67008259-67008259 + TCGA-EE-A3JE-06 COSM3916613 c.657G>A p.M219I Substitution - Missense 3:67003702-67003702 + TCGA-B5-A11N-01 COSM1048205 c.197G>T p.R66L Substitution - Missense 3:67003242-67003242 + 2492721 COSM1594047 c.610G>A p.D204N Substitution - Missense 3:67003577-67003577 + T1743 COSM3597164 c.222G>A p.S74S Substitution - coding silent 3:67003267-67003267 + TCGA-AC-A23H-01 COSM3824576 c.856G>A p.E286K Substitution - Missense 3:67003823-67003823 + TCGA-EE-A2MR-06 COSM3597177 c.1220C>T p.S407L Substitution - Missense 3:67004187-67004187 + TCGA-B5-A0JY-01 COSM1594047 c.610G>A p.D204N Substitution - Missense 3:67003577-67003577 + TCGA-ER-A19A-06 COSM3597180 c.1222C>T p.H408Y Substitution - Missense 3:67004267-67004267 + 2492724 COSM2784208 c.1780C>T p.P594S Substitution - Missense 3:67008359-67008359 + TCGA-F5-6814-01 COSM3427845 c.1243G>A p.D415N Substitution - Missense 3:67004210-67004210 + TCGA-BS-A0UV-01 COSM1594049 c.450G>T p.Q150H Substitution - Missense 3:67003417-67003417 + KYSE-30 COSM4326800 c.1345G>A p.E449K Substitution - Missense 3:67007924-67007924 + CSCC-56-T COSM4466643 c.1367C>T p.S456F Substitution - Missense 3:67008024-67008024 + HCC1008 COSM32493 c.514A>T p.S172C Substitution - Missense 3:67003559-67003559 + TCGA-FW-A3R5-06 COSM1211389 c.275G>A p.R92Q Substitution - Missense 3:67003242-67003242 + AOCS-147-1-1 COSM4150047 c.553G>C p.E185Q Substitution - Missense 3:67003520-67003520 + TCGA-EE-A3AD-06 COSM2784116 c.196C>T p.R66* Substitution - Nonsense 3:67003241-67003241 + TCGA-FW-A3R5-06 COSM3916615 c.1453C>T p.R485C Substitution - Missense 3:67008110-67008110 + B104-0 COSM1753368 c.6C>T p.D2D Substitution - coding silent 3:66999048-66999048 + 2492720 COSM1594047 c.610G>A p.D204N Substitution - Missense 3:67003577-67003577 + TCGA-ER-A19A-06 COSM3597179 c.1300C>T p.H434Y Substitution - Missense 3:67004267-67004267 + LUAD-YINHD COSM350920 c.1263G>T p.Q421H Substitution - Missense 3:67004308-67004308 + TCGA-AX-A0J0-01 COSM1594048 c.579A>C p.K193N Substitution - Missense 3:67003546-67003546 + TCGA-EA-A4BA-01 COSM4848084 c.1532G>T p.R511L Substitution - Missense 3:67008111-67008111 + LUAD-RT-S01487 COSM377927 c.1473T>C p.C491C Substitution - coding silent 3:67008130-67008130 + TCGA-EE-A17X-06 COSM3597184 c.1317C>T p.T439T Substitution - coding silent 3:67007974-67007974 + EV003-R6 COSM4410684 c.1723C>T p.P575S Substitution - Missense 3:67008302-67008302 + Au1 COSM5596898 c.1038C>T p.S346S Substitution - coding silent 3:67004083-67004083 + 2492721 COSM1048208 c.532G>A p.D178N Substitution - Missense 3:67003577-67003577 + TCGA-18-3411-01 COSM1149785 c.872T>G p.F291C Substitution - Missense 3:67003839-67003839 + TCGA-B0-5713-01 COSM1137096 c.1719G>C p.E573D Substitution - Missense 3:67008298-67008298 + TCGA-BR-4256-01 COSM4119935 c.302C>T p.A101V Substitution - Missense 3:67003347-67003347 + C70 COSM4619567 c.175G>T p.E59* Substitution - Nonsense 3:67003220-67003220 + TCGA-AX-A0J0-01 COSM1594051 c.266A>C p.K89T Substitution - Missense 3:67003233-67003233 + CHOL07 COSM1743595 c.462G>T p.G154G Substitution - coding silent 3:67003429-67003429 + TCGA-EE-A3JB-06 COSM4898349 c.1093C>T p.H365Y Substitution - Missense 3:67004060-67004060 + B104-0 COSM1753367 c.84C>T p.D28D Substitution - coding silent 3:66999048-66999048 + TCGA-GF-A6C9-06 COSM3597169 c.760C>T p.P254S Substitution - Missense 3:67003727-67003727 + TCGA-DD-A4NH-01 COSM4940939 c.738A>T p.E246D Substitution - Missense 3:67003705-67003705 + 109 COSM5011145 c.1557G>T p.Q519H Substitution - Missense 3:67008136-67008136 + 2492722 COSM3597190 c.1592C>T p.S531F Substitution - Missense 3:67008249-67008249 + TCGA-EA-A4BA-01 COSM4848085 c.1454G>T p.R485L Substitution - Missense 3:67008111-67008111 + CSCC-55-T COSM4540807 c.289G>A p.E97K Substitution - Missense 3:67003256-67003256 + CSCC-31-T COSM4450341 c.554delA p.E185fs*7 Deletion - Frameshift 3:67003521-67003521 + YULAN COSM446988 c.221C>T p.S74L Substitution - Missense 3:67003266-67003266 + MO_1095 COSM5561105 c.1595A>G p.N532S Substitution - Missense 3:67008174-67008174 + TCGA-CG-4306-01 COSM4119941 c.1670G>A p.R557Q Substitution - Missense 3:67008327-67008327 + TCGA-EE-A2MR-06 COSM3597178 c.1142C>T p.S381L Substitution - Missense 3:67004187-67004187 + 2492720 COSM3597190 c.1592C>T p.S531F Substitution - Missense 3:67008249-67008249 + sysucc-880T COSM5463292 c.1341G>T p.Q447H Substitution - Missense 3:67004308-67004308 + PD24215a COSM5787387 c.768G>T p.M256I Substitution - Missense 3:67003813-67003813 + TCGA-AP-A0LM-01 COSM1594046 c.755A>C p.K252T Substitution - Missense 3:67003722-67003722 + Pat_16_A COSM5865250 c.1682G>A p.C561Y Substitution - Missense 3:67008339-67008339 + TCGA-D3-A51J-06 COSM3597163 c.300G>A p.S100S Substitution - coding silent 3:67003267-67003267 + TCGA-AP-A056-01 COSM1048206 c.372G>T p.Q124H Substitution - Missense 3:67003417-67003417 + CSCC-55-T COSM4540808 c.211G>A p.E71K Substitution - Missense 3:67003256-67003256 + TCGA-BR-4256-01 COSM4119934 c.380C>T p.A127V Substitution - Missense 3:67003347-67003347 + TCGA-EB-A41A-01 COSM3597170 c.682C>T p.P228S Substitution - Missense 3:67003727-67003727 + HCC155T COSM3660702 c.378A>G p.A126A Substitution - coding silent 3:67003345-67003345 + TCGA-D3-A51E-06 COSM3597182 c.1307G>A p.G436D Substitution - Missense 3:67007964-67007964 + HT115 COSM2784194 c.1412G>A p.R471K Substitution - Missense 3:67007991-67007991 + TCGA-27-1836-01 COSM3408862 c.1197C>T p.C399C Substitution - coding silent 3:67004242-67004242 + HT115 COSM2784115 c.274C>T p.R92* Substitution - Nonsense 3:67003241-67003241 + TCGA-AA-3510-01 COSM1425158 c.675G>T p.E225D Substitution - Missense 3:67003720-67003720 + TCGA-E2-A15P-01 COSM1485460 c.1475_1477delATC p.H493delH Deletion - In frame 3:67008054-67008056 + TCGA-F5-6814-01 COSM3427844 c.374A>C p.N125T Substitution - Missense 3:67003419-67003419 + TCGA-AP-A0LM-01 COSM1048209 c.677A>C p.K226T Substitution - Missense 3:67003722-67003722 + TCGA-BP-4971-01 COSM1137095 c.1086G>T p.M362I Substitution - Missense 3:67004053-67004053 + TCGA-AX-A05Z-01 COSM1048212 c.1176G>T p.E392D Substitution - Missense 3:67004221-67004221 + HCC63T COSM1618016 c.17-10C>G p.? Unknown 3:66998971-66998971 + TCGA-B0-4710-01 COSM1137092 c.56C>G p.S19C Substitution - Missense 3:66999020-66999020 + TCGA-E1-5305-01 COSM3974562 c.713A>G p.K238R Substitution - Missense 3:67003680-67003680 + TCGA-A8-A08I-01 COSM446988 c.221C>T p.S74L Substitution - Missense 3:67003266-67003266 + ESCC_163 COSM5648055 c.1259G>T p.C420F Substitution - Missense 3:67004226-67004226 + 587342 COSM1211391 c.1680A>T p.Q560H Substitution - Missense 3:67008259-67008259 + TCGA-BS-A0UF-01 COSM1048211 c.1146A>C p.L382L Substitution - coding silent 3:67004191-67004191 + Pat_16_B COSM5865250 c.1682G>A p.C561Y Substitution - Missense 3:67008339-67008339 + TCGA-DK-A1AC-01 COSM1309448 c.966T>C p.N322N Substitution - coding silent 3:67003933-67003933 + TCGA-A8-A0A6-01 COSM3824579 c.1128T>G p.G376G Substitution - coding silent 3:67004173-67004173 + 2492723 COSM3597189 c.1670C>T p.S557F Substitution - Missense 3:67008249-67008249 + AOCS-147-1-1 COSM4150048 c.475G>C p.E159Q Substitution - Missense 3:67003520-67003520 + Pat_16_A COSM5865249 c.1760G>A p.C587Y Substitution - Missense 3:67008339-67008339 + TCGA-DD-A4NH-01 COSM4940940 c.660A>T p.E220D Substitution - Missense 3:67003705-67003705 + D01 COSM3824574 c.526C>T p.R176C Substitution - Missense 3:67003493-67003493 + TCGA-BS-A0TJ-01 COSM1048214 c.1426T>C p.Y476H Substitution - Missense 3:67008083-67008083 + YUDUTY COSM1692997 c.295G>A p.E99K Substitution - Missense 3:67003262-67003262 + BRC29 COSM5025971 c.6C>A p.D2E Substitution - Missense 3:66999048-66999048 + pfg043T COSM1594046 c.755A>C p.K252T Substitution - Missense 3:67003722-67003722 + B104-0-Tumor COSM1753367 c.84C>T p.D28D Substitution - coding silent 3:66999048-66999048 + TCGA-AX-A0J0-01 COSM1048204 c.188A>C p.K63T Substitution - Missense 3:67003233-67003233 + TCGA-F5-6814-01 COSM3427846 c.1165G>A p.D389N Substitution - Missense 3:67004210-67004210 + TCGA-EB-A3Y7-01 COSM3597162 c.214G>A p.A72T Substitution - Missense 3:67003259-67003259 + TCGA-BS-A0UV-01 COSM1048206 c.372G>T p.Q124H Substitution - Missense 3:67003417-67003417 + CSCC-45-T COSM4482681 c.184C>T p.Q62* Substitution - Nonsense 3:67003229-67003229 + PD24215a COSM5787386 c.846G>T p.M282I Substitution - Missense 3:67003813-67003813 + YUPAER COSM5399972 c.1615C>T p.R539* Substitution - Nonsense 3:67008194-67008194 + PD18283a COSM3770381 c.1779T>C p.Y593Y Substitution - coding silent 3:67008358-67008358 + TCGA-B5-A0JY-01 COSM1048208 c.532G>A p.D178N Substitution - Missense 3:67003577-67003577 + T578 COSM4694131 c.651T>G p.I217M Substitution - Missense 3:67003618-67003618 + 46M COSM5588089 c.565G>A p.E189K Substitution - Missense 3:67003610-67003610 + TCGA-B0-4710-01 COSM480546 c.29C>G p.S10C Substitution - Missense 3:66998993-66998993 + TCGA-AP-A056-01 COSM1594049 c.450G>T p.Q150H Substitution - Missense 3:67003417-67003417 + TARGET-30-PASTKW COSM1285648 c.904C>A p.Q302K Substitution - Missense 3:67003871-67003871 + TCGA-BS-A0UF-01 COSM1048210 c.1005G>A p.W335* Substitution - Nonsense 3:67004050-67004050 + PD14433a COSM5773618 c.996T>A p.N332K Substitution - Missense 3:67004041-67004041 + ESO-859 COSM1239186 c.502G>A p.G168R Substitution - Missense 3:67003469-67003469 + TCGA-AA-A00N-01 COSM298700 c.1267G>T p.E423* Substitution - Nonsense 3:67007924-67007924 + TCGA-BS-A0UV-01 COSM1048213 c.1406G>A p.R469H Substitution - Missense 3:67008063-67008063 + 2492722 COSM1594047 c.610G>A p.D204N Substitution - Missense 3:67003577-67003577 + EV003-R9 COSM4410685 c.1645C>T p.P549S Substitution - Missense 3:67008302-67008302 + 2492722 COSM1048208 c.532G>A p.D178N Substitution - Missense 3:67003577-67003577 + TCGA-EE-A17X-06 COSM3597183 c.1395C>T p.T465T Substitution - coding silent 3:67007974-67007974 + HCC076T COSM5822138 c.1454G>A p.R485H Substitution - Missense 3:67008111-67008111 + TCGA-CC-A7IH-01 COSM4923575 c.13C>T p.H5Y Substitution - Missense 3:66999055-66999055 + 2492723 COSM1048208 c.532G>A p.D178N Substitution - Missense 3:67003577-67003577 + TCGA-BR-6452-01 COSM4119936 c.1259G>A p.C420Y Substitution - Missense 3:67004226-67004226 + TCGA-UB-A7MB-01 COSM4932126 c.1118A>T p.K373I Substitution - Missense 3:67004085-67004085 + TCGA-EE-A2M5-06 COSM3597173 c.1188A>C p.G396G Substitution - coding silent 3:67004155-67004155 + TCGA-18-3411-01 COSM731672 c.794T>G p.F265C Substitution - Missense 3:67003839-67003839 + 11M COSM5576729 c.1629G>A p.M543I Substitution - Missense 3:67008286-67008286 + Au4 COSM3597177 c.1220C>T p.S407L Substitution - Missense 3:67004187-67004187 + T368 COSM3408861 c.1275C>T p.C425C Substitution - coding silent 3:67004242-67004242 + 19 COSM5746145 c.1159T>C p.C387R Substitution - Missense 3:67004204-67004204 + Pat_46_A COSM5865248 c.649C>T p.P217S Substitution - Missense 3:67003694-67003694 + RK109_C01 COSM1633316 c.868delA p.K290fs*9 Deletion - Frameshift 3:67003913-67003913 + YUPAER COSM5399973 c.1537C>T p.R513* Substitution - Nonsense 3:67008194-67008194 + TCGA-FW-A3R5-06 COSM3916611 c.427G>A p.D143N Substitution - Missense 3:67003472-67003472 + CHC2208T COSM4953100 c.448C>T p.Q150* Substitution - Nonsense 3:67003415-67003415 + TCGA-HU-A4GU-01 COSM4119939 c.1596T>A p.L532L Substitution - coding silent 3:67008253-67008253 + CHOL07 COSM1743596 c.384G>T p.G128G Substitution - coding silent 3:67003429-67003429 + PTC_72 COSM5959650 c.73G>A p.D25N Substitution - Missense 3:66999037-66999037 + Pat_46_A COSM5865247 c.727C>T p.P243S Substitution - Missense 3:67003694-67003694 + 2492721 COSM3597190 c.1592C>T p.S531F Substitution - Missense 3:67008249-67008249 + TCGA-B0-5713-01 COSM480550 c.1641G>C p.E547D Substitution - Missense 3:67008298-67008298 + ESCC-134T COSM3940621 c.746G>A p.G249D Substitution - Missense 3:67003791-67003791 + TCGA-EE-A3JB-06 COSM4898350 c.1015C>T p.H339Y Substitution - Missense 3:67004060-67004060 + HCC076T COSM5822137 c.1532G>A p.R511H Substitution - Missense 3:67008111-67008111 + TCGA-AG-A002-01 COSM261489 c.1448G>T p.W483L Substitution - Missense 3:67008105-67008105 + TCGA-BR-A4QL-01 COSM4119932 c.223T>C p.F75L Substitution - Missense 3:66999187-66999187 + Au1 COSM5596897 c.1116C>T p.S372S Substitution - coding silent 3:67004083-67004083 + TCGA-E2-A15G-01 COSM446989 c.864G>A p.V288V Substitution - coding silent 3:67003909-67003909 + 2492720 COSM1048208 c.532G>A p.D178N Substitution - Missense 3:67003577-67003577 + TCGA-EE-A3JE-06 COSM3916612 c.735G>A p.M245I Substitution - Missense 3:67003702-67003702 + ESCC-134T COSM3940620 c.824G>A p.G275D Substitution - Missense 3:67003791-67003791 + TCGA-EE-A181-06 COSM3597168 c.430C>T p.R144* Substitution - Nonsense 3:67003475-67003475 + TCGA-FW-A3R5-06 COSM1211390 c.197G>A p.R66Q Substitution - Missense 3:67003242-67003242 + TCGA-B0-4815-01 COSM1137094 c.682A>G p.R228G Substitution - Missense 3:67003649-67003649 + TCGA-CC-A7IH-01 COSM4923574 c.91C>T p.H31Y Substitution - Missense 3:66999055-66999055 + TCGA-ER-A193-06 COSM2784150 c.601G>A p.E201K Substitution - Missense 3:67003646-67003646 + TCGA-D8-A27G-01 COSM3824575 c.448C>T p.R150C Substitution - Missense 3:67003493-67003493 + 2492723 COSM1594047 c.610G>A p.D204N Substitution - Missense 3:67003577-67003577 + 2492726 COSM2784209 c.1702C>T p.P568S Substitution - Missense 3:67008359-67008359 + BD221T COSM5496359 c.82G>A p.E28K Substitution - Missense 3:66999124-66999124 + EV003-R6 COSM4410685 c.1645C>T p.P549S Substitution - Missense 3:67008302-67008302 + HCC155T COSM3660703 c.300A>G p.A100A Substitution - coding silent 3:67003345-67003345 + TCGA-DK-A3WW-01 COSM3775337 c.225C>T p.F75F Substitution - coding silent 3:66999189-66999189 + MO_1095 COSM5561106 c.1517A>G p.N506S Substitution - Missense 3:67008174-67008174 + TCGA-AP-A0LM-01 COSM1594041 c.1661G>T p.R554I Substitution - Missense 3:67008240-67008240 + HCC63 COSM1618016 c.17-10C>G p.? Unknown 3:66998971-66998971 + PR-09-2517 COSM245132 c.431G>A p.R144Q Substitution - Missense 3:67003476-67003476 + 49M COSM5591441 c.1651C>T p.R551W Substitution - Missense 3:67008308-67008308 + TCGA-E2-A15G-01 COSM1485459 c.942G>A p.V314V Substitution - coding silent 3:67003909-67003909 + TCGA-61-1741-01 COSM1328081 c.1102G>A p.A368T Substitution - Missense 3:67004147-67004147 + TCGA-D3-A51J-06 COSM3597164 c.222G>A p.S74S Substitution - coding silent 3:67003267-67003267 + TCGA-AA-3510-01 COSM1425157 c.753G>T p.E251D Substitution - Missense 3:67003720-67003720 + HCC075T COSM5821950 c.489C>T p.L163L Substitution - coding silent 3:67003534-67003534 + TCGA-BS-A0UF-01 COSM1594044 c.1224A>C p.L408L Substitution - coding silent 3:67004191-67004191 + TCGA-AH-6549-01 COSM1211390 c.197G>A p.R66Q Substitution - Missense 3:67003242-67003242 + sysucc-880T COSM350920 c.1263G>T p.Q421H Substitution - Missense 3:67004308-67004308 + TCGA-BS-A0TJ-01 COSM1154247 c.1504T>C p.Y502H Substitution - Missense 3:67008083-67008083 + TCGA-DA-A1HY-06 COSM3597176 c.1114C>T p.R372C Substitution - Missense 3:67004159-67004159 + C70 COSM4619566 c.253G>T p.E85* Substitution - Nonsense 3:67003220-67003220 + TCGA-AC-A23H-01 COSM3824577 c.778G>A p.E260K Substitution - Missense 3:67003823-67003823 + D01 COSM3824575 c.448C>T p.R150C Substitution - Missense 3:67003493-67003493 + TCGA-CG-4306-01 COSM4119940 c.1748G>A p.R583Q Substitution - Missense 3:67008327-67008327 + TCGA-BS-A0UV-01 COSM1594042 c.1484G>A p.R495H Substitution - Missense 3:67008063-67008063 + TCGA-EB-A3XB-01 COSM3597172 c.1037C>T p.S346F Substitution - Missense 3:67004082-67004082 + 109 COSM5011146 c.1479G>T p.Q493H Substitution - Missense 3:67008136-67008136 + B104-0-Tumor COSM1753368 c.6C>T p.D2D Substitution - coding silent 3:66999048-66999048 + TCGA-EE-A2MG-06 COSM3597186 c.1481C>T p.S494F Substitution - Missense 3:67008138-67008138 + TCGA-EB-A3Y7-01 COSM3597161 c.292G>A p.A98T Substitution - Missense 3:67003259-67003259 + TCGA-CK-5913-01 COSM1425152 c.77C>T p.A26V Substitution - Missense 3:66999041-66999041 + HT115 COSM2784116 c.196C>T p.R66* Substitution - Nonsense 3:67003241-67003241 + TCGA-HU-A4GU-01 COSM4119938 c.1674T>A p.L558L Substitution - coding silent 3:67008253-67008253 + 49M COSM3597176 c.1114C>T p.R372C Substitution - Missense 3:67004159-67004159 + TCGA-BP-4971-01 COSM480549 c.1008G>T p.M336I Substitution - Missense 3:67004053-67004053 + 2492724 COSM2784209 c.1702C>T p.P568S Substitution - Missense 3:67008359-67008359 + 587222 COSM1211389 c.275G>A p.R92Q Substitution - Missense 3:67003242-67003242 + TCGA-BR-A4QL-01 COSM4119933 c.145T>C p.F49L Substitution - Missense 3:66999187-66999187 + TCGA-EB-A41A-01 COSM3597169 c.760C>T p.P254S Substitution - Missense 3:67003727-67003727 + 49M COSM3597175 c.1192C>T p.R398C Substitution - Missense 3:67004159-67004159 + TCGA-EE-A2M5-06 COSM3597174 c.1110A>C p.G370G Substitution - coding silent 3:67004155-67004155 + PT36 COSM5915174 c.1276C>T p.L426F Substitution - Missense 3:67007933-67007933 + 2492720 COSM3597189 c.1670C>T p.S557F Substitution - Missense 3:67008249-67008249 + TCGA-ER-A193-06 COSM2784149 c.679G>A p.E227K Substitution - Missense 3:67003646-67003646 + TCGA-DK-A1AC-01 COSM1309449 c.888T>C p.N296N Substitution - coding silent 3:67003933-67003933 + YUDUTY COSM1692998 c.217G>A p.E73K Substitution - Missense 3:67003262-67003262 + TCGA-D3-A2J7-06 COSM3597165 c.450G>A p.Q150Q Substitution - coding silent 3:67003417-67003417 + Sample_1 COSM5021413 c.457T>C p.F153L Substitution - Missense 3:67003502-67003502 + TCGA-DK-A3WW-01 COSM3775338 c.147C>T p.F49F Substitution - coding silent 3:66999189-66999189 + PT48 COSM5931324 c.1477C>T p.H493Y Substitution - Missense 3:67008056-67008056 + T578 COSM4694132 c.573T>G p.I191M Substitution - Missense 3:67003618-67003618 + TCGA-EE-A3AE-06 COSM3597167 c.508C>T p.R170* Substitution - Nonsense 3:67003475-67003475 + CHC2208T COSM4953100 c.448C>T p.Q150* Substitution - Nonsense 3:67003415-67003415 + TCGA-EB-A3XB-01 COSM3597171 c.1115C>T p.S372F Substitution - Missense 3:67004082-67004082 + TCGA-EE-A2MG-06 COSM3597185 c.1559C>T p.S520F Substitution - Missense 3:67008138-67008138 + YULAN COSM1485458 c.299C>T p.S100L Substitution - Missense 3:67003266-67003266 + 587222 COSM1211390 c.197G>A p.R66Q Substitution - Missense 3:67003242-67003242 + ESO-708 COSM1255214 c.396T>C p.I132I Substitution - coding silent 3:67003363-67003363 + TARGET-30-PASTKW COSM1285649 c.826C>A p.Q276K Substitution - Missense 3:67003871-67003871 + TCGA-CA-6717-01 COSM1425160 c.1044A>C p.P348P Substitution - coding silent 3:67004089-67004089 + TCGA-EE-A3AD-06 COSM2784115 c.274C>T p.R92* Substitution - Nonsense 3:67003241-67003241 + ESO-859 COSM1239187 c.424G>A p.G142R Substitution - Missense 3:67003469-67003469 + TCGA-D3-A2JF-06 COSM3597190 c.1592C>T p.S531F Substitution - Missense 3:67008249-67008249 + S02209 COSM5675342 c.1567G>T p.V523F Substitution - Missense 3:67008224-67008224 + 783_T COSM3945670 c.1302T>C p.H434H Substitution - coding silent 3:67004269-67004269 + TCGA-61-1741-01 COSM1328080 c.1180G>A p.A394T Substitution - Missense 3:67004147-67004147 + TCGA-A8-A08I-01 COSM1485458 c.299C>T p.S100L Substitution - Missense 3:67003266-67003266 + HCC155 COSM3660703 c.300A>G p.A100A Substitution - coding silent 3:67003345-67003345 + TCGA-D8-A27G-01 COSM3824574 c.526C>T p.R176C Substitution - Missense 3:67003493-67003493 + 49M COSM5591440 c.1729C>T p.R577W Substitution - Missense 3:67008308-67008308 + Pat_16_B COSM5865249 c.1760G>A p.C587Y Substitution - Missense 3:67008339-67008339 + 11M COSM5576728 c.1707G>A p.M569I Substitution - Missense 3:67008286-67008286 + T368 COSM3408862 c.1197C>T p.C399C Substitution - coding silent 3:67004242-67004242 + TCGA-AX-A05Z-01 COSM1594043 c.1254G>T p.E418D Substitution - Missense 3:67004221-67004221 + TCGA-EE-A3AE-06 COSM3597168 c.430C>T p.R144* Substitution - Nonsense 3:67003475-67003475 + BD221T COSM5496358 c.160G>A p.E54K Substitution - Missense 3:66999124-66999124 + 783_T COSM3945671 c.1224T>C p.H408H Substitution - coding silent 3:67004269-67004269 + S02209 COSM5675341 c.1645G>T p.V549F Substitution - Missense 3:67008224-67008224 + pfg043T COSM1048209 c.677A>C p.K226T Substitution - Missense 3:67003722-67003722 + TCGA-DA-A1HY-06 COSM3597175 c.1192C>T p.R398C Substitution - Missense 3:67004159-67004159 + RK230_C01 COSM4779630 c.52C>A p.P18T Substitution - Missense 3:66999016-66999016 + CHC2208T COSM4953101 c.370C>T p.Q124* Substitution - Nonsense 3:67003415-67003415 + CSCC-31-T COSM4450342 c.476delA p.E159fs*7 Deletion - Frameshift 3:67003521-67003521 + PD18283a COSM3770382 c.1701T>C p.Y567Y Substitution - coding silent 3:67008358-67008358 + TCGA-GF-A6C9-06 COSM3597170 c.682C>T p.P228S Substitution - Missense 3:67003727-67003727 + TCGA-CA-6717-01 COSM1425159 c.1122A>C p.P374P Substitution - coding silent 3:67004089-67004089 + TCGA-A8-A0A6-01 COSM3824578 c.1206T>G p.G402G Substitution - coding silent 3:67004173-67004173 + TCGA-UB-A7MB-01 COSM4932127 c.1040A>T p.K347I Substitution - Missense 3:67004085-67004085 + TCGA-D3-A3C1-06 COSM3597188 c.1561G>A p.E521K Substitution - Missense 3:67008218-67008218 + KYSE-30 COSM4326801 c.1267G>A p.E423K Substitution - Missense 3:67007924-67007924 + TCGA-B0-4815-01 COSM480548 c.604A>G p.R202G Substitution - Missense 3:67003649-67003649 + TCGA-FW-A3R5-06 COSM3916614 c.1531C>T p.R511C Substitution - Missense 3:67008110-67008110 + PD14433a COSM5773617 c.1074T>A p.N358K Substitution - Missense 3:67004041-67004041 + 2492725 COSM2784209 c.1702C>T p.P568S Substitution - Missense 3:67008359-67008359 + 2492723 COSM3597190 c.1592C>T p.S531F Substitution - Missense 3:67008249-67008249 + TCGA-FW-A3R5-06 COSM3916610 c.505G>A p.D169N Substitution - Missense 3:67003472-67003472 + TCGA-AG-A002-01 COSM194567 c.1567G>A p.V523I Substitution - Missense 3:67008224-67008224 + TCGA-D3-A2JF-06 COSM3597189 c.1670C>T p.S557F Substitution - Missense 3:67008249-67008249 + TCGA-61-2101-01 COSM71247 c.821A>G p.K274R Substitution - Missense 3:67003866-67003866 + 2492721 COSM3597189 c.1670C>T p.S557F Substitution - Missense 3:67008249-67008249 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.116665 3p14

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G396G c.1188A>C 3 67054579 CM A - Frameshift p.F315Lfs*10 c.945delT 3 67054336 HC AGA - InFrameDeletion p.K442delK c.1325_1327delAGA 3 67054713 STAD A G Missense p.K238R c.713A>G 3 67054104 LGG A G Missense p.K300R c.899A>G 3 67054290 OV ATC - InFrameDeletion p.H493delH c.1479_1481delTCA 3 67058478 BRCA C A Missense p.D28E c.84C>A 3 67049472 BRCA C A Missense p.Q302K c.904C>A 3 67054295 NB C A Missense p.Q88K c.262C>A 3 67053653 CM C G Missense p.L68V c.202C>G 3 67049590 RCCC C G Missense p.Q531E c.1591C>G 3 67058594 OV C G Missense p.S10C c.29C>G 3 67049417 RCCC C G Missense p.S19C c.56C>G 3 67049444 RCCC C T Missense p.A127V c.380C>T 3 67053771 STAD C T Missense p.H365Y c.1093C>T 3 67054484 CM C T Missense p.H434Y c.1300C>T 3 67054691 CM C T Missense p.P516L c.1547C>T 3 67058550 CM C T Missense p.R398C c.1192C>T 3 67054583 CM C T Missense p.S100L c.299C>T 3 67053690 BRCA C T Missense p.S410F c.1229C>T 3 67054620 CM C T Missense p.S520F c.1559C>T 3 67058562 CM C T Missense p.S557F c.1670C>T 3 67058673 CM C T Nonsense p.R170* c.508C>T 3 67053899 CM C T Nonsense p.R92* c.274C>T 3 67053665 CM C T Synonymous p.C425C c.1275C>T 3 67054666 GBM C T Synonymous p.T465T c.1395C>T 3 67058398 CM G A Missense p.E227K c.679G>A 3 67054070 CM G A Missense p.E547K c.1639G>A 3 67058642 CM G A Missense p.G168R c.502G>A 3 67053893 ESCA G A Missense p.M245I c.735G>A 3 67054126 CM G A Missense p.R583Q c.1748G>A 3 67058751 STAD G A Synonymous p.Q150Q c.450G>A 3 67053841 CM G A Synonymous p.V314V c.942G>A 3 67054333 BRCA G C Missense p.E573D c.1719G>C 3 67058722 RCCC G C Missense p.G342R c.1024G>C 3 67054415 HNSC G T Missense p.D148Y c.442G>T 3 67053833 LUAD G T Missense p.M362I c.1086G>T 3 67054477 RCCC G T Synonymous p.R577R c.1731G>T 3 67058734 HNSC T C Missense p.C265R c.793T>C 3 67054184 STAD T C Missense p.V545A c.1634T>C 3 67058637 THCA T C Missense p.Y502H c.1504T>C 3 67058507 UCEC T C Synonymous p.I132I c.396T>C 3 67053787 ESCA T G 3-UTRSNV . c.1803+324T>G 3 67059130 HC T G Missense p.F291C c.872T>G 3 67054263 LUSC T G Synonymous p.S410S c.1230T>G 3 67054621 CM