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 17 19186443 19186443 + Missense_Mutation SNP C C T TCGA-XF-AAMF-01A-21D-A42E-08 TCGA-XF-AAMF-10A-01D-A42H-08 g.chr17:19186443C>T c.11C>T c.(10-12)tCg>tTg p.S4L BLCA 17 19186762 19186762 + Missense_Mutation SNP G G C TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr17:19186762G>C c.330G>C c.(328-330)caG>caC p.Q110H BLCA 17 19187004 19187004 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr17:19187004G>A c.572G>A c.(571-573)gGc>gAc p.G191D BLCA 17 19215376 19215376 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr17:19215376C>T c.891C>T c.(889-891)ctC>ctT p.L297L BLCA 17 19216560 19216560 + Missense_Mutation SNP C C A TCGA-BT-A20Q-01A-11D-A14W-08 TCGA-BT-A20Q-11A-11D-A14W-08 g.chr17:19216560C>A c.1115C>A c.(1114-1116)cCt>cAt p.P372H BLCA 17 19235231 19235231 + Missense_Mutation SNP C C G TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr17:19235231C>G c.1477C>G c.(1477-1479)Caa>Gaa p.Q493E BRCA 17 19215401 19215401 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr17:19215401C>T c.916C>T c.(916-918)Cag>Tag p.Q306* BRCA 17 19235190 19235211 + Frame_Shift_Del DEL CCCAAAACAATGGAACTACCAG CCCAAAACAATGGAACTACCAG - TCGA-A2-A0T0-01A-22D-A099-09 TCGA-A2-A0T0-10A-01D-A099-09 g.chr17:19235190_19235211delCCCAAAACAATGGAACTACCAG c.1436_1457delCCCAAAACAATGGAACTACCAG c.(1435-1458)tcccaaaacaatggaactaccagcfs p.SQNNGTTS479fs CESC 17 19186471 19186471 + Silent SNP C C T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr17:19186471C>T c.39C>T c.(37-39)atC>atT p.I13I CESC 17 19186876 19186876 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:19186876C>G c.444C>G c.(442-444)ctC>ctG p.L148L CHOL 17 19186722 19186722 + Missense_Mutation SNP G G T TCGA-3X-AAVE-01A-11D-A417-09 TCGA-3X-AAVE-10A-01D-A41A-09 g.chr17:19186722G>T c.290G>T c.(289-291)cGg>cTg p.R97L CHOL 17 19232056 19232056 + Missense_Mutation SNP G G T TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr17:19232056G>T c.1180G>T c.(1180-1182)Ggg>Tgg p.G394W COAD 17 19186604 19186604 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:19186604A>G c.172A>G c.(172-174)Agc>Ggc p.S58G COAD 17 19188933 19188933 + Splice_Site SNP C C T TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr17:19188933C>T c.596C>T c.(595-597)tCg>tTg p.S199L COAD 17 19189092 19189092 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:19189092G>A c.755G>A c.(754-756)cGc>cAc p.R252H COAD 17 19215444 19215445 + Frame_Shift_Ins INS - - A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:19215444_19215445insA c.959_960insA c.(958-963)ccaaaafs p.PK320fs COAD 17 19232890 19232890 + Missense_Mutation SNP C C A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr17:19232890C>A c.1341C>A c.(1339-1341)ttC>ttA p.F447L COAD 17 19235214 19235214 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:19235214C>A c.1460C>A c.(1459-1461)cCt>cAt p.P487H COAD 17 19237428 19237428 + Missense_Mutation SNP C C T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr17:19237428C>T c.1787C>T c.(1786-1788)gCg>gTg p.A596V COAD 17 19237474 19237474 + Silent SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:19237474A>G c.1833A>G c.(1831-1833)ccA>ccG p.P611P COADREAD 17 19186604 19186604 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:19186604A>G c.172A>G c.(172-174)Agc>Ggc p.S58G COADREAD 17 19188933 19188933 + Splice_Site SNP C C T TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chr17:19188933C>T c.596C>T c.(595-597)tCg>tTg p.S199L COADREAD 17 19189092 19189092 + Missense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:19189092G>A c.755G>A c.(754-756)cGc>cAc p.R252H COADREAD 17 19215444 19215445 + Frame_Shift_Ins INS - - A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr17:19215444_19215445insA c.959_960insA c.(958-963)ccaaaafs p.PK320fs COADREAD 17 19232062 19232062 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:19232062C>T c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S COADREAD 17 19232890 19232890 + Missense_Mutation SNP C C A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr17:19232890C>A c.1341C>A c.(1339-1341)ttC>ttA p.F447L COADREAD 17 19235214 19235214 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:19235214C>A c.1460C>A c.(1459-1461)cCt>cAt p.P487H COADREAD 17 19237428 19237428 + Missense_Mutation SNP C C T TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr17:19237428C>T c.1787C>T c.(1786-1788)gCg>gTg p.A596V COADREAD 17 19237474 19237474 + Silent SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr17:19237474A>G c.1833A>G c.(1831-1833)ccA>ccG p.P611P ESCA 17 19216546 19216546 + Silent SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr17:19216546C>T c.1101C>T c.(1099-1101)ggC>ggT p.G367G GBMLGG 17 19213263 19213263 + Missense_Mutation SNP C C G TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 g.chr17:19213263C>G c.832C>G c.(832-834)Ctt>Gtt p.L278V GBMLGG 17 19232897 19232897 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:19232897C>A c.1348C>A c.(1348-1350)Ctg>Atg p.L450M HNSC 17 19188962 19188962 + Missense_Mutation SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr17:19188962C>T c.625C>T c.(625-627)Cgc>Tgc p.R209C HNSC 17 19213237 19213237 + Missense_Mutation SNP G G A TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chr17:19213237G>A c.806G>A c.(805-807)cGg>cAg p.R269Q HNSC 17 19232091 19232091 + Silent SNP C C T TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr17:19232091C>T c.1215C>T c.(1213-1215)ccC>ccT p.P405P HNSC 17 19235287 19235287 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:19235287C>T c.1533C>T c.(1531-1533)tcC>tcT p.S511S KIPAN 17 19186485 19186485 + Missense_Mutation SNP C C T TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr17:19186485C>T c.53C>T c.(52-54)tCa>tTa p.S18L KIPAN 17 19186717 19186717 + Silent SNP G G A TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr17:19186717G>A c.285G>A c.(283-285)caG>caA p.Q95Q KIRC 17 19186485 19186485 + Missense_Mutation SNP C C T TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chr17:19186485C>T c.53C>T c.(52-54)tCa>tTa p.S18L KIRC 17 19186717 19186717 + Silent SNP G G A TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr17:19186717G>A c.285G>A c.(283-285)caG>caA p.Q95Q LGG 17 19213263 19213263 + Missense_Mutation SNP C C G TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 g.chr17:19213263C>G c.832C>G c.(832-834)Ctt>Gtt p.L278V LGG 17 19232897 19232897 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:19232897C>A c.1348C>A c.(1348-1350)Ctg>Atg p.L450M LIHC 17 19186829 19186873 + In_Frame_Del DEL CTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCAGGCT CTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCAGGCT - TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr17:19186829_19186873delCTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCAGGCT c.397_441delCTCCTCAAGGACGAGGAACGGTTGAAGGCTGAGAGGGCCCAGGCT c.(397-441)ctcctcaaggacgaggaacggttgaaggctgagagggcccaggctdel p.LLKDEERLKAERAQA133del LIHC 17 19186882 19186882 + Silent SNP C C G TCGA-ZP-A9CZ-01A-11D-A382-10 TCGA-ZP-A9CZ-10A-01D-A385-10 g.chr17:19186882C>G c.450C>G c.(448-450)acC>acG p.T150T LUAD 17 19186638 19186638 + Missense_Mutation SNP A A C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr17:19186638A>C c.206A>C c.(205-207)aAg>aCg p.K69T LUAD 17 19186773 19186773 + Missense_Mutation SNP G G A TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr17:19186773G>A c.341G>A c.(340-342)cGa>cAa p.R114Q LUAD 17 19186825 19186825 + Silent SNP G G T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr17:19186825G>T c.393G>T c.(391-393)gtG>gtT p.V131V LUAD 17 19186861 19186861 + Missense_Mutation SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr17:19186861G>T c.429G>T c.(427-429)gaG>gaT p.E143D LUAD 17 19186886 19186886 + Missense_Mutation SNP G G C TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr17:19186886G>C c.454G>C c.(454-456)Gag>Cag p.E152Q LUAD 17 19186997 19186997 + Missense_Mutation SNP G G T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr17:19186997G>T c.565G>T c.(565-567)Gcc>Tcc p.A189S LUAD 17 19213203 19213203 + Missense_Mutation SNP T T A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr17:19213203T>A c.772T>A c.(772-774)Tcc>Acc p.S258T LUAD 17 19216459 19216459 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr17:19216459G>T c.1014G>T c.(1012-1014)atG>atT p.M338I LUAD 17 19216480 19216480 + Frame_Shift_Del DEL C C - TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr17:19216480delC c.1035delC c.(1033-1035)ggcfs p.G345fs LUAD 17 19216559 19216559 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chr17:19216559C>T c.1114C>T c.(1114-1116)Cct>Tct p.P372S LUAD 17 19232056 19232056 + Missense_Mutation SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr17:19232056G>T c.1180G>T c.(1180-1182)Ggg>Tgg p.G394W LUAD 17 19235181 19235181 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 g.chr17:19235181C>G c.1427C>G c.(1426-1428)tCt>tGt p.S476C LUAD 17 19237375 19237376 + Frame_Shift_Ins INS - - T TCGA-17-Z002-01A-01W-0746-08 TCGA-17-Z002-11A-01W-0746-08 g.chr17:19237375_19237376insT c.1734_1735insT c.(1735-1737)tttfs p.F579fs LUSC 17 19232925 19232925 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:19232925C>T c.1376C>T c.(1375-1377)tCt>tTt p.S459F PRAD 17 19186472 19186472 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:19186472G>A c.40G>A c.(40-42)Gtg>Atg p.V14M PRAD 17 19215386 19215386 + Missense_Mutation SNP G G A TCGA-SU-A7E7-01A-22D-A33T-08 TCGA-SU-A7E7-10A-01D-A33W-08 g.chr17:19215386G>A c.901G>A c.(901-903)Gat>Aat p.D301N PRAD 17 19232167 19232167 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:19232167G>A c.1291G>A c.(1291-1293)Gca>Aca p.A431T PRAD 17 19235303 19235303 + Missense_Mutation SNP G G A TCGA-EJ-5515-01A-01D-1576-08 TCGA-EJ-5515-10A-01D-1577-08 g.chr17:19235303G>A c.1549G>A c.(1549-1551)Gcg>Acg p.A517T PRAD 17 19237548 19237548 + Frame_Shift_Del DEL C C - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 g.chr17:19237548delC c.1907delC c.(1906-1908)accfs p.T636fs READ 17 19232062 19232062 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:19232062C>T c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S SARC 17 19189049 19189049 + Missense_Mutation SNP C C T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 g.chr17:19189049C>T c.712C>T c.(712-714)Cgc>Tgc p.R238C SKCM 17 19186624 19186624 + Silent SNP G G A TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr17:19186624G>A c.192G>A c.(190-192)ctG>ctA p.L64L SKCM 17 19186759 19186759 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:19186759C>T c.327C>T c.(325-327)ttC>ttT p.F109F SKCM 17 19186844 19186844 + Missense_Mutation SNP G G A TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr17:19186844G>A c.412G>A c.(412-414)Gaa>Aaa p.E138K SKCM 17 19215451 19215451 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:19215451G>A c.966G>A c.(964-966)aaG>aaA p.K322K SKCM 17 19216440 19216440 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:19216440C>T c.995C>T c.(994-996)aCt>aTt p.T332I SKCM 17 19216560 19216560 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:19216560C>T c.1115C>T c.(1114-1116)cCt>cTt p.P372L SKCM 17 19237289 19237289 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:19237289C>T c.1648C>T c.(1648-1650)Cct>Tct p.P550S SKCM 17 19237303 19237303 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr17:19237303C>T c.1662C>T c.(1660-1662)ttC>ttT p.F554F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 19186762 19186762 single base substitution G C downstream_gene_variant BLCA-US 17 19186762 19186762 single base substitution G C exon_variant BLCA-US 17 19186762 19186762 single base substitution G C intron_variant BLCA-US 17 19186762 19186762 single base substitution G C missense_variant Q110H 330G>C BLCA-US 17 19216560 19216560 single base substitution C A 3_prime_UTR_variant BLCA-US 17 19216560 19216560 single base substitution C A exon_variant BLCA-US 17 19216560 19216560 single base substitution C A intron_variant BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P308H 923C>A BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P315H 944C>A BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P372H 1115C>A BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P80H 239C>A BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P81H 242C>A BLCA-US 17 19216560 19216560 single base substitution C A missense_variant P87H 260C>A BLCA-US 17 19235231 19235231 single base substitution C G downstream_gene_variant BLCA-US 17 19235231 19235231 single base substitution C G exon_variant BLCA-US 17 19235231 19235231 single base substitution C G intron_variant BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q201E 601C>G BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q202E 604C>G BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q208E 622C>G BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q429E 1285C>G BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q436E 1306C>G BLCA-US 17 19235231 19235231 single base substitution C G missense_variant Q493E 1477C>G BOCA-FR 17 19224008 19224008 single base substitution C A intron_variant BRCA-EU 17 19141012 19141012 single base substitution G A intron_variant BRCA-EU 17 19141450 19141450 single base substitution G A intron_variant BRCA-EU 17 19142706 19142706 single base substitution C T intron_variant BRCA-EU 17 19142786 19142786 single base substitution T G intron_variant BRCA-EU 17 19145259 19145259 single base substitution A T intron_variant BRCA-EU 17 19146021 19146021 single base substitution T A intron_variant BRCA-EU 17 19146311 19146311 single base substitution G A intron_variant BRCA-EU 17 19146587 19146587 single base substitution C T intron_variant BRCA-EU 17 19147941 19147941 deletion of <=200bp T - intron_variant BRCA-EU 17 19147941 19147941 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 19149487 19149487 single base substitution A T intron_variant BRCA-EU 17 19149487 19149487 single base substitution A T upstream_gene_variant BRCA-EU 17 19149907 19149907 insertion of <=200bp - G intron_variant BRCA-EU 17 19149907 19149907 insertion of <=200bp - G upstream_gene_variant BRCA-EU 17 19150226 19150226 single base substitution G A intron_variant BRCA-EU 17 19150226 19150226 single base substitution G A upstream_gene_variant BRCA-EU 17 19153222 19153222 single base substitution G T intron_variant BRCA-EU 17 19153311 19153311 single base substitution C T intron_variant BRCA-EU 17 19155151 19155151 deletion of <=200bp T - intron_variant BRCA-EU 17 19155515 19155515 single base substitution C T intron_variant BRCA-EU 17 19157787 19157787 single base substitution G C intron_variant BRCA-EU 17 19157787 19157787 single base substitution G C upstream_gene_variant BRCA-EU 17 19158378 19158404 deletion of <=200bp GGCACCCTTCTCAAGGGCTACTTCTGT - intron_variant BRCA-EU 17 19158378 19158404 deletion of <=200bp GGCACCCTTCTCAAGGGCTACTTCTGT - upstream_gene_variant BRCA-EU 17 19159009 19159009 single base substitution C T intron_variant BRCA-EU 17 19159009 19159009 single base substitution C T upstream_gene_variant BRCA-EU 17 19160144 19160144 single base substitution G A intron_variant BRCA-EU 17 19160144 19160144 single base substitution G A upstream_gene_variant BRCA-EU 17 19161248 19161248 single base substitution C A 5_prime_UTR_variant BRCA-EU 17 19161248 19161248 single base substitution C A intron_variant BRCA-EU 17 19161436 19161436 single base substitution A G intron_variant BRCA-EU 17 19162853 19162853 single base substitution C T intron_variant BRCA-EU 17 19162986 19162986 single base substitution C G intron_variant BRCA-EU 17 19164049 19164049 single base substitution C T intron_variant BRCA-EU 17 19165499 19165499 deletion of <=200bp A - intron_variant BRCA-EU 17 19169349 19169349 single base substitution C G intron_variant BRCA-EU 17 19169560 19169560 single base substitution C G intron_variant BRCA-EU 17 19170185 19170185 single base substitution T C intron_variant BRCA-EU 17 19176186 19176186 single base substitution G A intron_variant BRCA-EU 17 19176417 19176417 single base substitution C G intron_variant BRCA-EU 17 19176796 19176796 single base substitution G A intron_variant BRCA-EU 17 19177907 19177907 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 19177907 19177907 deletion of <=200bp T - intron_variant BRCA-EU 17 19181927 19181927 single base substitution G T downstream_gene_variant BRCA-EU 17 19181927 19181927 single base substitution G T intron_variant BRCA-EU 17 19181927 19181927 single base substitution G T upstream_gene_variant BRCA-EU 17 19182107 19182107 single base substitution G A downstream_gene_variant BRCA-EU 17 19182107 19182107 single base substitution G A intron_variant BRCA-EU 17 19182107 19182107 single base substitution G A upstream_gene_variant BRCA-EU 17 19182350 19182350 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 19182350 19182350 deletion of <=200bp T - intron_variant BRCA-EU 17 19182350 19182350 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 19188903 19188904 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 17 19188903 19188904 deletion of <=200bp TG - intron_variant BRCA-EU 17 19190745 19190745 single base substitution T C downstream_gene_variant BRCA-EU 17 19190745 19190745 single base substitution T C intron_variant BRCA-EU 17 19191457 19191457 single base substitution C T downstream_gene_variant BRCA-EU 17 19191457 19191457 single base substitution C T intron_variant BRCA-EU 17 19191748 19191748 single base substitution C T intron_variant BRCA-EU 17 19193956 19193956 single base substitution G T intron_variant BRCA-EU 17 19194679 19194679 single base substitution A C intron_variant BRCA-EU 17 19195016 19195016 single base substitution G T intron_variant BRCA-EU 17 19195964 19195964 single base substitution C T intron_variant BRCA-EU 17 19197386 19197386 single base substitution G C intron_variant BRCA-EU 17 19197547 19197547 single base substitution A G intron_variant BRCA-EU 17 19198271 19198271 insertion of <=200bp - A intron_variant BRCA-EU 17 19199207 19199207 single base substitution C G intron_variant BRCA-EU 17 19199632 19199632 single base substitution T C intron_variant BRCA-EU 17 19201230 19201230 single base substitution C T intron_variant BRCA-EU 17 19201232 19201232 single base substitution C T intron_variant BRCA-EU 17 19201385 19201385 single base substitution C T intron_variant BRCA-EU 17 19201857 19201857 single base substitution C G intron_variant BRCA-EU 17 19202519 19202519 single base substitution T C intron_variant BRCA-EU 17 19203313 19203313 single base substitution C T intron_variant BRCA-EU 17 19203839 19203839 single base substitution T C intron_variant BRCA-EU 17 19204386 19204386 single base substitution C T intron_variant BRCA-EU 17 19204808 19204808 single base substitution C G intron_variant BRCA-EU 17 19206489 19206489 single base substitution C G intron_variant BRCA-EU 17 19207403 19207403 single base substitution G C intron_variant BRCA-EU 17 19207685 19207685 single base substitution G A intron_variant BRCA-EU 17 19208226 19208226 single base substitution C A intron_variant BRCA-EU 17 19211953 19211953 single base substitution G C intron_variant BRCA-EU 17 19211953 19211953 single base substitution G C upstream_gene_variant BRCA-EU 17 19213598 19213598 single base substitution G A intron_variant BRCA-EU 17 19213598 19213598 single base substitution G A upstream_gene_variant BRCA-EU 17 19215889 19215889 single base substitution C G intron_variant BRCA-EU 17 19215889 19215889 single base substitution C G upstream_gene_variant BRCA-EU 17 19217337 19217337 single base substitution C T downstream_gene_variant BRCA-EU 17 19217337 19217337 single base substitution C T intron_variant BRCA-EU 17 19219548 19219548 single base substitution T A downstream_gene_variant BRCA-EU 17 19219548 19219548 single base substitution T A intron_variant BRCA-EU 17 19220617 19220617 single base substitution C G downstream_gene_variant BRCA-EU 17 19220617 19220617 single base substitution C G intron_variant BRCA-EU 17 19220823 19220823 single base substitution C G downstream_gene_variant BRCA-EU 17 19220823 19220823 single base substitution C G intron_variant BRCA-EU 17 19221788 19221788 single base substitution G A downstream_gene_variant BRCA-EU 17 19221788 19221788 single base substitution G A intron_variant BRCA-EU 17 19222520 19222520 single base substitution A T intron_variant BRCA-EU 17 19222707 19222707 single base substitution G A intron_variant BRCA-EU 17 19222942 19222942 insertion of <=200bp - C intron_variant BRCA-EU 17 19224425 19224425 single base substitution G C intron_variant BRCA-EU 17 19226841 19226841 single base substitution G C intron_variant BRCA-EU 17 19227764 19227764 single base substitution A T intron_variant BRCA-EU 17 19227764 19227764 single base substitution A T upstream_gene_variant BRCA-EU 17 19229482 19229482 single base substitution G T intron_variant BRCA-EU 17 19229482 19229482 single base substitution G T upstream_gene_variant BRCA-EU 17 19234546 19234546 single base substitution A G downstream_gene_variant BRCA-EU 17 19234546 19234546 single base substitution A G intron_variant BRCA-EU 17 19236186 19236186 single base substitution C A downstream_gene_variant BRCA-EU 17 19236186 19236186 single base substitution C A intron_variant BRCA-EU 17 19236648 19236648 single base substitution C T downstream_gene_variant BRCA-EU 17 19236648 19236648 single base substitution C T intron_variant BRCA-EU 17 19237648 19237648 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 19237648 19237648 single base substitution G C downstream_gene_variant BRCA-EU 17 19237648 19237648 single base substitution G C intron_variant BRCA-EU 17 19238697 19238697 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 19238697 19238697 single base substitution A G downstream_gene_variant BRCA-EU 17 19238697 19238697 single base substitution A G intron_variant BRCA-EU 17 19240456 19240456 single base substitution G C downstream_gene_variant BRCA-EU 17 19240989 19240989 single base substitution G A downstream_gene_variant BRCA-EU 17 19241066 19241066 single base substitution G C downstream_gene_variant BRCA-EU 17 19241435 19241437 deletion of <=200bp AAC - downstream_gene_variant BRCA-EU 17 19243523 19243523 single base substitution G A downstream_gene_variant BRCA-EU 17 19244291 19244291 single base substitution G A downstream_gene_variant BRCA-FR 17 19141012 19141012 single base substitution G A intron_variant BRCA-FR 17 19141450 19141450 single base substitution G A intron_variant BRCA-FR 17 19161248 19161248 single base substitution C A 5_prime_UTR_variant BRCA-FR 17 19161248 19161248 single base substitution C A intron_variant BRCA-FR 17 19169560 19169560 single base substitution C G intron_variant BRCA-FR 17 19175683 19175683 single base substitution C T intron_variant BRCA-FR 17 19176417 19176417 single base substitution C G intron_variant BRCA-FR 17 19180414 19180414 single base substitution C T downstream_gene_variant BRCA-FR 17 19180414 19180414 single base substitution C T intron_variant BRCA-FR 17 19180414 19180414 single base substitution C T upstream_gene_variant BRCA-FR 17 19187357 19187357 single base substitution C G downstream_gene_variant BRCA-FR 17 19187357 19187357 single base substitution C G intron_variant BRCA-FR 17 19189779 19189779 single base substitution A G downstream_gene_variant BRCA-FR 17 19189779 19189779 single base substitution A G intron_variant BRCA-FR 17 19198851 19198851 single base substitution A G intron_variant BRCA-FR 17 19204386 19204386 single base substitution C T intron_variant BRCA-FR 17 19204808 19204808 single base substitution C G intron_variant BRCA-FR 17 19220122 19220122 single base substitution C G downstream_gene_variant BRCA-FR 17 19220122 19220122 single base substitution C G intron_variant BRCA-FR 17 19230702 19230702 single base substitution G T intron_variant BRCA-FR 17 19230702 19230702 single base substitution G T upstream_gene_variant BRCA-FR 17 19241066 19241066 single base substitution G C downstream_gene_variant BRCA-UK 17 19208226 19208226 single base substitution C A intron_variant BRCA-UK 17 19213237 19213237 single base substitution G C 5_prime_UTR_variant BRCA-UK 17 19213237 19213237 single base substitution G C exon_variant BRCA-UK 17 19213237 19213237 single base substitution G C missense_variant R212P 635G>C BRCA-UK 17 19213237 19213237 single base substitution G C missense_variant R269P 806G>C BRCA-UK 17 19213237 19213237 single base substitution G C upstream_gene_variant BRCA-UK 17 19240989 19240989 single base substitution G A downstream_gene_variant BRCA-US 17 19215401 19215401 single base substitution C T exon_variant BRCA-US 17 19215401 19215401 single base substitution C T stop_gained Q21* 61C>T BRCA-US 17 19215401 19215401 single base substitution C T stop_gained Q249* 745C>T BRCA-US 17 19215401 19215401 single base substitution C T stop_gained Q306* 916C>T BRCA-US 17 19215401 19215401 single base substitution C T upstream_gene_variant BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - downstream_gene_variant BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - exon_variant BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS187 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS188 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS194 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS415 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS422 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - frameshift_variant SQNNGTTS479 BRCA-US 17 19235190 19235211 deletion of <=200bp CCCAAAACAATGGAACTACCAG - intron_variant BTCA-JP 17 19186834 19186834 single base substitution C G downstream_gene_variant BTCA-JP 17 19186834 19186834 single base substitution C G exon_variant BTCA-JP 17 19186834 19186834 single base substitution C G intron_variant BTCA-JP 17 19186834 19186834 single base substitution C G synonymous_variant L134L 402C>G BTCA-JP 17 19216761 19216761 single base substitution G A exon_variant BTCA-JP 17 19216761 19216761 single base substitution G A intron_variant BTCA-JP 17 19232076 19232076 single base substitution C T downstream_gene_variant BTCA-JP 17 19232076 19232076 single base substitution C T exon_variant BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T108T 324C>T BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T109T 327C>T BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T115T 345C>T BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T336T 1008C>T BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T343T 1029C>T BTCA-JP 17 19232076 19232076 single base substitution C T synonymous_variant T400T 1200C>T BTCA-JP 17 19232076 19232076 single base substitution C T upstream_gene_variant CESC-US 17 19186471 19186471 single base substitution C T downstream_gene_variant CESC-US 17 19186471 19186471 single base substitution C T exon_variant CESC-US 17 19186471 19186471 single base substitution C T intron_variant CESC-US 17 19186471 19186471 single base substitution C T synonymous_variant I13I 39C>T CESC-US 17 19186876 19186876 single base substitution C G downstream_gene_variant CESC-US 17 19186876 19186876 single base substitution C G exon_variant CESC-US 17 19186876 19186876 single base substitution C G intron_variant CESC-US 17 19186876 19186876 single base substitution C G synonymous_variant L148L 444C>G CESC-US 17 19238692 19238692 single base substitution C G 3_prime_UTR_variant CESC-US 17 19238692 19238692 single base substitution C G downstream_gene_variant CESC-US 17 19238692 19238692 single base substitution C G intron_variant CLLE-ES 17 19153152 19153152 single base substitution A T intron_variant CLLE-ES 17 19193471 19193471 single base substitution G A intron_variant CLLE-ES 17 19200423 19200423 single base substitution G A intron_variant COAD-US 17 19188933 19188933 single base substitution C T downstream_gene_variant COAD-US 17 19188933 19188933 single base substitution C T intron_variant COAD-US 17 19188933 19188933 single base substitution C T missense_variant S199L 596C>T COAD-US 17 19189092 19189092 single base substitution G A downstream_gene_variant COAD-US 17 19189092 19189092 single base substitution G A intron_variant COAD-US 17 19189092 19189092 single base substitution G A missense_variant R252H 755G>A COAD-US 17 19232890 19232890 single base substitution C A downstream_gene_variant COAD-US 17 19232890 19232890 single base substitution C A exon_variant COAD-US 17 19232890 19232890 single base substitution C A missense_variant F155L 465C>A COAD-US 17 19232890 19232890 single base substitution C A missense_variant F156L 468C>A COAD-US 17 19232890 19232890 single base substitution C A missense_variant F162L 486C>A COAD-US 17 19232890 19232890 single base substitution C A missense_variant F383L 1149C>A COAD-US 17 19232890 19232890 single base substitution C A missense_variant F390L 1170C>A COAD-US 17 19232890 19232890 single base substitution C A missense_variant F447L 1341C>A COAD-US 17 19232949 19232949 insertion of <=200bp - A downstream_gene_variant COAD-US 17 19232949 19232949 insertion of <=200bp - A exon_variant COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant ?410Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S175Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S176Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S182Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S403Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S410Y? COAD-US 17 19232949 19232949 insertion of <=200bp - A frameshift_variant S467Y? COAD-US 17 19235214 19235214 single base substitution C A downstream_gene_variant COAD-US 17 19235214 19235214 single base substitution C A exon_variant COAD-US 17 19235214 19235214 single base substitution C A intron_variant COAD-US 17 19235214 19235214 single base substitution C A missense_variant P195H 584C>A COAD-US 17 19235214 19235214 single base substitution C A missense_variant P196H 587C>A COAD-US 17 19235214 19235214 single base substitution C A missense_variant P202H 605C>A COAD-US 17 19235214 19235214 single base substitution C A missense_variant P423H 1268C>A COAD-US 17 19235214 19235214 single base substitution C A missense_variant P430H 1289C>A COAD-US 17 19235214 19235214 single base substitution C A missense_variant P487H 1460C>A COCA-CN 17 19182279 19182279 single base substitution G A downstream_gene_variant COCA-CN 17 19182279 19182279 single base substitution G A intron_variant COCA-CN 17 19182279 19182279 single base substitution G A upstream_gene_variant COCA-CN 17 19186411 19186411 single base substitution A C 5_prime_UTR_variant COCA-CN 17 19186411 19186411 single base substitution A C downstream_gene_variant COCA-CN 17 19186411 19186411 single base substitution A C exon_variant COCA-CN 17 19186411 19186411 single base substitution A C intron_variant COCA-CN 17 19215372 19215372 single base substitution G A 5_prime_UTR_variant COCA-CN 17 19215372 19215372 single base substitution G A exon_variant COCA-CN 17 19215372 19215372 single base substitution G A missense_variant R11H 32G>A COCA-CN 17 19215372 19215372 single base substitution G A missense_variant R239H 716G>A COCA-CN 17 19215372 19215372 single base substitution G A missense_variant R296H 887G>A COCA-CN 17 19215372 19215372 single base substitution G A upstream_gene_variant COCA-CN 17 19233025 19233025 single base substitution A C downstream_gene_variant COCA-CN 17 19233025 19233025 single base substitution A C intron_variant COCA-CN 17 19235304 19235304 single base substitution C T downstream_gene_variant COCA-CN 17 19235304 19235304 single base substitution C T intron_variant COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A225V 674C>T COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A226V 677C>T COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A232V 695C>T COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A453V 1358C>T COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A460V 1379C>T COCA-CN 17 19235304 19235304 single base substitution C T missense_variant A517V 1550C>T COCA-CN 17 19238727 19238727 single base substitution G A 3_prime_UTR_variant COCA-CN 17 19238727 19238727 single base substitution G A downstream_gene_variant COCA-CN 17 19238727 19238727 single base substitution G A missense_variant G474E 1421G>A COCA-CN 17 19238868 19238868 single base substitution G A 3_prime_UTR_variant COCA-CN 17 19238868 19238868 single base substitution G A downstream_gene_variant COCA-CN 17 19241161 19241161 single base substitution C T downstream_gene_variant EOPC-DE 17 19220920 19220920 single base substitution C T downstream_gene_variant EOPC-DE 17 19220920 19220920 single base substitution C T intron_variant ESAD-UK 17 19141758 19141758 single base substitution C T intron_variant ESAD-UK 17 19142585 19142585 single base substitution G A intron_variant ESAD-UK 17 19144449 19144449 single base substitution G T intron_variant ESAD-UK 17 19145767 19145769 deletion of <=200bp TTG - intron_variant ESAD-UK 17 19147342 19147342 single base substitution C T intron_variant ESAD-UK 17 19147342 19147342 single base substitution C T upstream_gene_variant ESAD-UK 17 19149223 19149223 single base substitution C G intron_variant ESAD-UK 17 19149223 19149223 single base substitution C G upstream_gene_variant ESAD-UK 17 19150170 19150170 single base substitution C T intron_variant ESAD-UK 17 19150170 19150170 single base substitution C T upstream_gene_variant ESAD-UK 17 19150323 19150323 single base substitution T C intron_variant ESAD-UK 17 19150323 19150323 single base substitution T C upstream_gene_variant ESAD-UK 17 19150619 19150619 single base substitution C T intron_variant ESAD-UK 17 19150619 19150619 single base substitution C T upstream_gene_variant ESAD-UK 17 19153009 19153009 single base substitution C G intron_variant ESAD-UK 17 19154535 19154535 single base substitution G A intron_variant ESAD-UK 17 19156309 19156309 single base substitution C T intron_variant ESAD-UK 17 19156309 19156309 single base substitution C T upstream_gene_variant ESAD-UK 17 19157715 19157715 single base substitution G A intron_variant ESAD-UK 17 19157715 19157715 single base substitution G A upstream_gene_variant ESAD-UK 17 19160158 19160158 single base substitution T C intron_variant ESAD-UK 17 19160158 19160158 single base substitution T C upstream_gene_variant ESAD-UK 17 19169149 19169149 single base substitution G A intron_variant ESAD-UK 17 19169723 19169723 single base substitution T A intron_variant ESAD-UK 17 19174874 19174874 single base substitution T C exon_variant ESAD-UK 17 19174874 19174874 single base substitution T C intron_variant ESAD-UK 17 19179092 19179092 single base substitution T G downstream_gene_variant ESAD-UK 17 19179092 19179092 single base substitution T G intron_variant ESAD-UK 17 19182143 19182143 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 19182143 19182143 deletion of <=200bp T - intron_variant ESAD-UK 17 19182143 19182143 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 19182278 19182278 single base substitution C T downstream_gene_variant ESAD-UK 17 19182278 19182278 single base substitution C T intron_variant ESAD-UK 17 19182278 19182278 single base substitution C T upstream_gene_variant ESAD-UK 17 19186565 19186565 single base substitution G A downstream_gene_variant ESAD-UK 17 19186565 19186565 single base substitution G A exon_variant ESAD-UK 17 19186565 19186565 single base substitution G A intron_variant ESAD-UK 17 19186565 19186565 single base substitution G A missense_variant D45N 133G>A ESAD-UK 17 19188855 19188855 single base substitution C T downstream_gene_variant ESAD-UK 17 19188855 19188855 single base substitution C T intron_variant ESAD-UK 17 19188985 19188985 single base substitution G A downstream_gene_variant ESAD-UK 17 19188985 19188985 single base substitution G A intron_variant ESAD-UK 17 19188985 19188985 single base substitution G A synonymous_variant Q216Q 648G>A ESAD-UK 17 19189713 19189713 single base substitution T C downstream_gene_variant ESAD-UK 17 19189713 19189713 single base substitution T C intron_variant ESAD-UK 17 19190334 19190334 single base substitution A G downstream_gene_variant ESAD-UK 17 19190334 19190334 single base substitution A G intron_variant ESAD-UK 17 19192492 19192492 single base substitution G T intron_variant ESAD-UK 17 19193102 19193102 single base substitution T A intron_variant ESAD-UK 17 19193103 19193103 single base substitution G C intron_variant ESAD-UK 17 19193366 19193366 single base substitution A G intron_variant ESAD-UK 17 19198295 19198295 single base substitution C T intron_variant ESAD-UK 17 19198489 19198489 single base substitution C A intron_variant ESAD-UK 17 19199697 19199697 single base substitution C T intron_variant ESAD-UK 17 19201259 19201259 single base substitution G A intron_variant ESAD-UK 17 19204169 19204169 single base substitution T G intron_variant ESAD-UK 17 19205598 19205598 single base substitution G C intron_variant ESAD-UK 17 19209445 19209445 single base substitution G A intron_variant ESAD-UK 17 19209445 19209445 single base substitution G A upstream_gene_variant ESAD-UK 17 19213851 19213855 deletion of <=200bp TCTTT - intron_variant ESAD-UK 17 19213851 19213855 deletion of <=200bp TCTTT - upstream_gene_variant ESAD-UK 17 19218130 19218130 single base substitution C T downstream_gene_variant ESAD-UK 17 19218130 19218130 single base substitution C T intron_variant ESAD-UK 17 19219103 19219103 single base substitution C G downstream_gene_variant ESAD-UK 17 19219103 19219103 single base substitution C G intron_variant ESAD-UK 17 19219126 19219126 single base substitution C A downstream_gene_variant ESAD-UK 17 19219126 19219126 single base substitution C A intron_variant ESAD-UK 17 19219278 19219278 single base substitution C G downstream_gene_variant ESAD-UK 17 19219278 19219278 single base substitution C G intron_variant ESAD-UK 17 19219345 19219345 single base substitution C G downstream_gene_variant ESAD-UK 17 19219345 19219345 single base substitution C G intron_variant ESAD-UK 17 19220321 19220321 single base substitution T C downstream_gene_variant ESAD-UK 17 19220321 19220321 single base substitution T C intron_variant ESAD-UK 17 19221965 19221965 single base substitution G A downstream_gene_variant ESAD-UK 17 19221965 19221965 single base substitution G A intron_variant ESAD-UK 17 19223638 19223638 single base substitution G T intron_variant ESAD-UK 17 19233916 19233916 single base substitution C G downstream_gene_variant ESAD-UK 17 19233916 19233916 single base substitution C G intron_variant ESAD-UK 17 19234002 19234002 single base substitution G A downstream_gene_variant ESAD-UK 17 19234002 19234002 single base substitution G A intron_variant ESAD-UK 17 19234259 19234259 single base substitution G T downstream_gene_variant ESAD-UK 17 19234259 19234259 single base substitution G T intron_variant ESAD-UK 17 19236653 19236653 single base substitution C G downstream_gene_variant ESAD-UK 17 19236653 19236653 single base substitution C G intron_variant ESAD-UK 17 19237429 19237429 single base substitution G A downstream_gene_variant ESAD-UK 17 19237429 19237429 single base substitution G A intron_variant ESAD-UK 17 19237429 19237429 single base substitution G A synonymous_variant A304A 912G>A ESAD-UK 17 19237429 19237429 single base substitution G A synonymous_variant A311A 933G>A ESAD-UK 17 19237429 19237429 single base substitution G A synonymous_variant A532A 1596G>A ESAD-UK 17 19237429 19237429 single base substitution G A synonymous_variant A539A 1617G>A ESAD-UK 17 19237429 19237429 single base substitution G A synonymous_variant A596A 1788G>A ESAD-UK 17 19242530 19242530 deletion of <=200bp T - downstream_gene_variant KIRC-US 17 19186485 19186485 single base substitution C T downstream_gene_variant KIRC-US 17 19186485 19186485 single base substitution C T exon_variant KIRC-US 17 19186485 19186485 single base substitution C T intron_variant KIRC-US 17 19186485 19186485 single base substitution C T missense_variant S18L 53C>T KIRC-US 17 19186717 19186717 single base substitution G A downstream_gene_variant KIRC-US 17 19186717 19186717 single base substitution G A exon_variant KIRC-US 17 19186717 19186717 single base substitution G A intron_variant KIRC-US 17 19186717 19186717 single base substitution G A synonymous_variant Q95Q 285G>A KIRC-US 17 19232882 19232882 single base substitution G T downstream_gene_variant KIRC-US 17 19232882 19232882 single base substitution G T exon_variant KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E153* 457G>T KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E154* 460G>T KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E160* 478G>T KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E381* 1141G>T KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E388* 1162G>T KIRC-US 17 19232882 19232882 single base substitution G T stop_gained E445* 1333G>T LAML-KR 17 19117372 19117372 single base substitution G T upstream_gene_variant LAML-KR 17 19122718 19122718 single base substitution A G exon_variant LAML-KR 17 19122718 19122718 single base substitution A G intron_variant LAML-KR 17 19122718 19122718 single base substitution A G upstream_gene_variant LAML-KR 17 19157747 19157747 single base substitution G A intron_variant LAML-KR 17 19157747 19157747 single base substitution G A upstream_gene_variant LAML-KR 17 19231898 19231898 single base substitution T C intron_variant LAML-KR 17 19231898 19231898 single base substitution T C upstream_gene_variant LGG-US 17 19213263 19213263 single base substitution C G 5_prime_UTR_variant LGG-US 17 19213263 19213263 single base substitution C G exon_variant LGG-US 17 19213263 19213263 single base substitution C G missense_variant L221V 661C>G LGG-US 17 19213263 19213263 single base substitution C G missense_variant L278V 832C>G LGG-US 17 19213263 19213263 single base substitution C G upstream_gene_variant LICA-CN 17 19215381 19215381 single base substitution G A 5_prime_UTR_variant LICA-CN 17 19215381 19215381 single base substitution G A exon_variant LICA-CN 17 19215381 19215381 single base substitution G A missense_variant R14Q 41G>A LICA-CN 17 19215381 19215381 single base substitution G A missense_variant R242Q 725G>A LICA-CN 17 19215381 19215381 single base substitution G A missense_variant R299Q 896G>A LICA-CN 17 19215381 19215381 single base substitution G A upstream_gene_variant LICA-FR 17 19186572 19186572 single base substitution C T downstream_gene_variant LICA-FR 17 19186572 19186572 single base substitution C T exon_variant LICA-FR 17 19186572 19186572 single base substitution C T intron_variant LICA-FR 17 19186572 19186572 single base substitution C T missense_variant T47I 140C>T LICA-FR 17 19221938 19221938 single base substitution T G downstream_gene_variant LICA-FR 17 19221938 19221938 single base substitution T G intron_variant LICA-FR 17 19237354 19237354 single base substitution A T downstream_gene_variant LICA-FR 17 19237354 19237354 single base substitution A T intron_variant LICA-FR 17 19237354 19237354 single base substitution A T synonymous_variant P279P 837A>T LICA-FR 17 19237354 19237354 single base substitution A T synonymous_variant P286P 858A>T LICA-FR 17 19237354 19237354 single base substitution A T synonymous_variant P507P 1521A>T LICA-FR 17 19237354 19237354 single base substitution A T synonymous_variant P514P 1542A>T LICA-FR 17 19237354 19237354 single base substitution A T synonymous_variant P571P 1713A>T LICA-FR 17 19237510 19237510 single base substitution G A downstream_gene_variant LICA-FR 17 19237510 19237510 single base substitution G A intron_variant LICA-FR 17 19237510 19237510 single base substitution G A synonymous_variant V331V 993G>A LICA-FR 17 19237510 19237510 single base substitution G A synonymous_variant V338V 1014G>A LICA-FR 17 19237510 19237510 single base substitution G A synonymous_variant V559V 1677G>A LICA-FR 17 19237510 19237510 single base substitution G A synonymous_variant V566V 1698G>A LICA-FR 17 19237510 19237510 single base substitution G A synonymous_variant V623V 1869G>A LICA-FR 17 19238106 19238106 single base substitution G T 3_prime_UTR_variant LICA-FR 17 19238106 19238106 single base substitution G T downstream_gene_variant LICA-FR 17 19238106 19238106 single base substitution G T intron_variant LIHC-US 17 19189061 19189061 single base substitution G T downstream_gene_variant LIHC-US 17 19189061 19189061 single base substitution G T intron_variant LIHC-US 17 19189061 19189061 single base substitution G T missense_variant D242Y 724G>T LINC-JP 17 19150040 19150040 deletion of <=200bp T - intron_variant LINC-JP 17 19150040 19150040 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 19158265 19158265 single base substitution G A intron_variant LINC-JP 17 19158265 19158265 single base substitution G A upstream_gene_variant LINC-JP 17 19168848 19168848 single base substitution T C intron_variant LINC-JP 17 19171299 19171299 single base substitution C A intron_variant LINC-JP 17 19183466 19183466 insertion of <=200bp - TCACCAC intron_variant LINC-JP 17 19183466 19183466 insertion of <=200bp - TCACCAC upstream_gene_variant LINC-JP 17 19186890 19186890 single base substitution G T downstream_gene_variant LINC-JP 17 19186890 19186890 single base substitution G T exon_variant LINC-JP 17 19186890 19186890 single base substitution G T intron_variant LINC-JP 17 19186890 19186890 single base substitution G T missense_variant R153L 458G>T LINC-JP 17 19187328 19187328 single base substitution C T downstream_gene_variant LINC-JP 17 19187328 19187328 single base substitution C T intron_variant LINC-JP 17 19197824 19197824 deletion of <=200bp T - intron_variant LINC-JP 17 19208440 19208440 single base substitution T G intron_variant LINC-JP 17 19208440 19208440 single base substitution T G upstream_gene_variant LINC-JP 17 19212318 19212318 insertion of <=200bp - TGCATGTG intron_variant LINC-JP 17 19212318 19212318 insertion of <=200bp - TGCATGTG upstream_gene_variant LINC-JP 17 19212765 19212765 single base substitution G T intron_variant LINC-JP 17 19212765 19212765 single base substitution G T upstream_gene_variant LINC-JP 17 19216942 19216942 single base substitution C A exon_variant LINC-JP 17 19216942 19216942 single base substitution C A intron_variant LINC-JP 17 19217081 19217081 single base substitution A C downstream_gene_variant LINC-JP 17 19217081 19217081 single base substitution A C intron_variant LINC-JP 17 19220349 19220349 single base substitution T G downstream_gene_variant LINC-JP 17 19220349 19220349 single base substitution T G intron_variant LINC-JP 17 19221052 19221052 single base substitution G T downstream_gene_variant LINC-JP 17 19221052 19221052 single base substitution G T intron_variant LINC-JP 17 19221053 19221053 single base substitution G T downstream_gene_variant LINC-JP 17 19221053 19221053 single base substitution G T intron_variant LINC-JP 17 19234055 19234055 single base substitution C G downstream_gene_variant LINC-JP 17 19234055 19234055 single base substitution C G intron_variant LINC-JP 17 19238969 19238969 single base substitution C G 3_prime_UTR_variant LINC-JP 17 19238969 19238969 single base substitution C G downstream_gene_variant LIRI-JP 17 19142770 19142770 deletion of <=200bp C - intron_variant LIRI-JP 17 19143509 19143509 single base substitution T A intron_variant LIRI-JP 17 19152899 19152899 single base substitution G T intron_variant LIRI-JP 17 19153591 19153591 single base substitution T A intron_variant LIRI-JP 17 19154739 19154739 single base substitution T A intron_variant LIRI-JP 17 19156145 19156145 single base substitution G T intron_variant LIRI-JP 17 19156146 19156146 single base substitution G T intron_variant LIRI-JP 17 19157896 19157896 single base substitution A G intron_variant LIRI-JP 17 19157896 19157896 single base substitution A G upstream_gene_variant LIRI-JP 17 19157930 19157930 single base substitution C T intron_variant LIRI-JP 17 19157930 19157930 single base substitution C T upstream_gene_variant LIRI-JP 17 19159282 19159282 single base substitution G A intron_variant LIRI-JP 17 19159282 19159282 single base substitution G A upstream_gene_variant LIRI-JP 17 19160193 19160196 deletion of <=200bp AAAT - intron_variant LIRI-JP 17 19160193 19160196 deletion of <=200bp AAAT - upstream_gene_variant LIRI-JP 17 19166747 19166747 single base substitution C A intron_variant LIRI-JP 17 19167656 19167656 single base substitution T G intron_variant LIRI-JP 17 19170444 19170444 single base substitution G A intron_variant LIRI-JP 17 19174472 19174472 single base substitution G A intron_variant LIRI-JP 17 19177211 19177211 single base substitution G A intron_variant LIRI-JP 17 19179587 19179587 single base substitution A G downstream_gene_variant LIRI-JP 17 19179587 19179587 single base substitution A G intron_variant LIRI-JP 17 19181017 19181017 single base substitution C A downstream_gene_variant LIRI-JP 17 19181017 19181017 single base substitution C A intron_variant LIRI-JP 17 19181017 19181017 single base substitution C A upstream_gene_variant LIRI-JP 17 19181019 19181019 single base substitution C T downstream_gene_variant LIRI-JP 17 19181019 19181019 single base substitution C T intron_variant LIRI-JP 17 19181019 19181019 single base substitution C T upstream_gene_variant LIRI-JP 17 19181442 19181442 single base substitution A G downstream_gene_variant LIRI-JP 17 19181442 19181442 single base substitution A G intron_variant LIRI-JP 17 19181442 19181442 single base substitution A G upstream_gene_variant LIRI-JP 17 19181793 19181793 single base substitution C T downstream_gene_variant LIRI-JP 17 19181793 19181793 single base substitution C T intron_variant LIRI-JP 17 19181793 19181793 single base substitution C T upstream_gene_variant LIRI-JP 17 19182573 19182573 single base substitution G T downstream_gene_variant LIRI-JP 17 19182573 19182573 single base substitution G T intron_variant LIRI-JP 17 19182573 19182573 single base substitution G T upstream_gene_variant LIRI-JP 17 19182574 19182574 single base substitution C G downstream_gene_variant LIRI-JP 17 19182574 19182574 single base substitution C G intron_variant LIRI-JP 17 19182574 19182574 single base substitution C G upstream_gene_variant LIRI-JP 17 19185589 19185589 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 19185589 19185589 single base substitution A G intron_variant LIRI-JP 17 19185589 19185589 single base substitution A G upstream_gene_variant LIRI-JP 17 19186448 19186448 single base substitution A G downstream_gene_variant LIRI-JP 17 19186448 19186448 single base substitution A G exon_variant LIRI-JP 17 19186448 19186448 single base substitution A G intron_variant LIRI-JP 17 19186448 19186448 single base substitution A G missense_variant I6V 16A>G LIRI-JP 17 19189241 19189241 single base substitution C T downstream_gene_variant LIRI-JP 17 19189241 19189241 single base substitution C T intron_variant LIRI-JP 17 19190957 19190957 single base substitution G A downstream_gene_variant LIRI-JP 17 19190957 19190957 single base substitution G A intron_variant LIRI-JP 17 19195132 19195132 single base substitution C T intron_variant LIRI-JP 17 19198479 19198479 single base substitution A T intron_variant LIRI-JP 17 19198858 19198858 single base substitution A G intron_variant LIRI-JP 17 19200111 19200111 single base substitution G A intron_variant LIRI-JP 17 19201313 19201313 single base substitution C T intron_variant LIRI-JP 17 19208158 19208158 single base substitution G A intron_variant LIRI-JP 17 19208650 19208650 single base substitution G T intron_variant LIRI-JP 17 19208650 19208650 single base substitution G T upstream_gene_variant LIRI-JP 17 19209627 19209627 single base substitution C T intron_variant LIRI-JP 17 19209627 19209627 single base substitution C T upstream_gene_variant LIRI-JP 17 19210582 19210582 single base substitution T A intron_variant LIRI-JP 17 19210582 19210582 single base substitution T A upstream_gene_variant LIRI-JP 17 19210587 19210587 single base substitution T G intron_variant LIRI-JP 17 19210587 19210587 single base substitution T G upstream_gene_variant LIRI-JP 17 19213398 19213398 single base substitution C T intron_variant LIRI-JP 17 19213398 19213398 single base substitution C T upstream_gene_variant LIRI-JP 17 19220516 19220516 single base substitution A G downstream_gene_variant LIRI-JP 17 19220516 19220516 single base substitution A G intron_variant LIRI-JP 17 19222686 19222686 single base substitution G T intron_variant LIRI-JP 17 19223504 19223504 single base substitution G C intron_variant LIRI-JP 17 19224767 19224767 single base substitution C A intron_variant LIRI-JP 17 19225281 19225281 single base substitution T C intron_variant LIRI-JP 17 19227788 19227788 single base substitution G A intron_variant LIRI-JP 17 19227788 19227788 single base substitution G A upstream_gene_variant LIRI-JP 17 19228738 19228738 single base substitution A G intron_variant LIRI-JP 17 19228738 19228738 single base substitution A G upstream_gene_variant LIRI-JP 17 19230063 19230063 single base substitution G A intron_variant LIRI-JP 17 19230063 19230063 single base substitution G A upstream_gene_variant LIRI-JP 17 19230113 19230113 single base substitution G A intron_variant LIRI-JP 17 19230113 19230113 single base substitution G A upstream_gene_variant LIRI-JP 17 19230634 19230634 single base substitution A G intron_variant LIRI-JP 17 19230634 19230634 single base substitution A G upstream_gene_variant LIRI-JP 17 19233698 19233698 single base substitution C G downstream_gene_variant LIRI-JP 17 19233698 19233698 single base substitution C G intron_variant LIRI-JP 17 19235971 19235971 single base substitution G A downstream_gene_variant LIRI-JP 17 19235971 19235971 single base substitution G A intron_variant LIRI-JP 17 19238955 19238955 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 19238955 19238955 single base substitution T A downstream_gene_variant LIRI-JP 17 19242246 19242246 single base substitution G A downstream_gene_variant LIRI-JP 17 19242579 19242579 single base substitution T C downstream_gene_variant LIRI-JP 17 19242584 19242584 single base substitution T A downstream_gene_variant LUSC-KR 17 19114664 19114664 single base substitution G A upstream_gene_variant LUSC-KR 17 19122718 19122718 single base substitution A G exon_variant LUSC-KR 17 19122718 19122718 single base substitution A G intron_variant LUSC-KR 17 19122718 19122718 single base substitution A G upstream_gene_variant LUSC-KR 17 19123272 19123272 single base substitution T G exon_variant LUSC-KR 17 19123272 19123272 single base substitution T G intron_variant LUSC-KR 17 19123272 19123272 single base substitution T G upstream_gene_variant LUSC-KR 17 19142194 19142194 single base substitution G T intron_variant LUSC-KR 17 19158768 19158768 single base substitution T C intron_variant LUSC-KR 17 19158768 19158768 single base substitution T C upstream_gene_variant LUSC-KR 17 19166303 19166303 single base substitution G C intron_variant LUSC-KR 17 19180526 19180526 single base substitution C T downstream_gene_variant LUSC-KR 17 19180526 19180526 single base substitution C T intron_variant LUSC-KR 17 19180526 19180526 single base substitution C T upstream_gene_variant LUSC-KR 17 19183909 19183909 single base substitution A G intron_variant LUSC-KR 17 19183909 19183909 single base substitution A G upstream_gene_variant LUSC-KR 17 19187240 19187240 single base substitution G T downstream_gene_variant LUSC-KR 17 19187240 19187240 single base substitution G T intron_variant LUSC-KR 17 19187276 19187276 single base substitution C G downstream_gene_variant LUSC-KR 17 19187276 19187276 single base substitution C G intron_variant LUSC-KR 17 19187592 19187592 single base substitution T C downstream_gene_variant LUSC-KR 17 19187592 19187592 single base substitution T C intron_variant LUSC-KR 17 19189728 19189728 single base substitution C T downstream_gene_variant LUSC-KR 17 19189728 19189728 single base substitution C T intron_variant LUSC-KR 17 19193922 19193922 single base substitution A G intron_variant LUSC-KR 17 19213362 19213362 single base substitution G T intron_variant LUSC-KR 17 19213362 19213362 single base substitution G T upstream_gene_variant LUSC-KR 17 19222324 19222324 single base substitution A T intron_variant LUSC-KR 17 19227874 19227874 single base substitution G T intron_variant LUSC-KR 17 19227874 19227874 single base substitution G T upstream_gene_variant LUSC-KR 17 19240933 19240933 single base substitution G A downstream_gene_variant LUSC-US 17 19232925 19232925 single base substitution C T downstream_gene_variant LUSC-US 17 19232925 19232925 single base substitution C T exon_variant LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S167F 500C>T LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S168F 503C>T LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S174F 521C>T LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S395F 1184C>T LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S402F 1205C>T LUSC-US 17 19232925 19232925 single base substitution C T missense_variant S459F 1376C>T MALY-DE 17 19143564 19143564 deletion of <=200bp T - intron_variant MALY-DE 17 19149996 19149996 single base substitution A C intron_variant MALY-DE 17 19149996 19149996 single base substitution A C upstream_gene_variant MALY-DE 17 19150049 19150049 single base substitution T C intron_variant MALY-DE 17 19150049 19150049 single base substitution T C upstream_gene_variant MALY-DE 17 19154078 19154078 single base substitution T C intron_variant MALY-DE 17 19181149 19181149 single base substitution G T downstream_gene_variant MALY-DE 17 19181149 19181149 single base substitution G T intron_variant MALY-DE 17 19181149 19181149 single base substitution G T upstream_gene_variant MALY-DE 17 19187279 19187279 single base substitution T C downstream_gene_variant MALY-DE 17 19187279 19187279 single base substitution T C intron_variant MALY-DE 17 19189591 19189591 deletion of <=200bp T - downstream_gene_variant MALY-DE 17 19189591 19189591 deletion of <=200bp T - intron_variant MALY-DE 17 19194638 19194638 single base substitution C T intron_variant MALY-DE 17 19195044 19195044 single base substitution C T intron_variant MALY-DE 17 19197416 19197416 single base substitution A T intron_variant MALY-DE 17 19198402 19198402 single base substitution C T intron_variant MALY-DE 17 19202840 19202840 single base substitution A G intron_variant MALY-DE 17 19206616 19206616 single base substitution T A intron_variant MALY-DE 17 19206863 19206863 single base substitution T G intron_variant MALY-DE 17 19207440 19207440 single base substitution G T intron_variant MALY-DE 17 19212722 19212722 single base substitution G A intron_variant MALY-DE 17 19212722 19212722 single base substitution G A upstream_gene_variant MALY-DE 17 19218499 19218499 single base substitution C T downstream_gene_variant MALY-DE 17 19218499 19218499 single base substitution C T intron_variant MALY-DE 17 19218500 19218500 single base substitution C T downstream_gene_variant MALY-DE 17 19218500 19218500 single base substitution C T intron_variant MALY-DE 17 19219408 19219408 single base substitution C T downstream_gene_variant MALY-DE 17 19219408 19219408 single base substitution C T intron_variant MALY-DE 17 19220844 19220844 single base substitution C T downstream_gene_variant MALY-DE 17 19220844 19220844 single base substitution C T intron_variant MALY-DE 17 19223399 19223399 single base substitution G A intron_variant MALY-DE 17 19238225 19238225 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 17 19238225 19238225 insertion of <=200bp - T downstream_gene_variant MALY-DE 17 19238225 19238225 insertion of <=200bp - T intron_variant MALY-DE 17 19240378 19240378 single base substitution C T downstream_gene_variant MELA-AU 17 19135939 19135939 single base substitution G A intron_variant MELA-AU 17 19135939 19135939 single base substitution G A upstream_gene_variant MELA-AU 17 19138154 19138154 single base substitution C T intron_variant MELA-AU 17 19138154 19138154 single base substitution C T upstream_gene_variant MELA-AU 17 19138708 19138708 single base substitution C T intron_variant MELA-AU 17 19138708 19138708 single base substitution C T upstream_gene_variant MELA-AU 17 19140604 19140605 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 19140604 19140605 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 19141411 19141411 single base substitution G A intron_variant MELA-AU 17 19141595 19141595 single base substitution G A intron_variant MELA-AU 17 19141914 19141914 single base substitution C T intron_variant MELA-AU 17 19143013 19143013 single base substitution C T intron_variant MELA-AU 17 19143202 19143202 single base substitution C T intron_variant MELA-AU 17 19143291 19143291 single base substitution C T intron_variant MELA-AU 17 19143693 19143693 single base substitution G A intron_variant MELA-AU 17 19143915 19143915 single base substitution C T intron_variant MELA-AU 17 19144074 19144074 single base substitution C T intron_variant MELA-AU 17 19145755 19145755 single base substitution A G intron_variant MELA-AU 17 19145904 19145904 single base substitution C T intron_variant MELA-AU 17 19146796 19146796 single base substitution C T intron_variant MELA-AU 17 19146796 19146796 single base substitution C T upstream_gene_variant MELA-AU 17 19146802 19146802 single base substitution T C intron_variant MELA-AU 17 19146802 19146802 single base substitution T C upstream_gene_variant MELA-AU 17 19146856 19146856 single base substitution C A intron_variant MELA-AU 17 19146856 19146856 single base substitution C A upstream_gene_variant MELA-AU 17 19147755 19147755 single base substitution G A intron_variant MELA-AU 17 19147755 19147755 single base substitution G A upstream_gene_variant MELA-AU 17 19147909 19147909 single base substitution G A intron_variant MELA-AU 17 19147909 19147909 single base substitution G A upstream_gene_variant MELA-AU 17 19147952 19147952 single base substitution C G intron_variant MELA-AU 17 19147952 19147952 single base substitution C G upstream_gene_variant MELA-AU 17 19148081 19148081 single base substitution C T intron_variant MELA-AU 17 19148081 19148081 single base substitution C T upstream_gene_variant MELA-AU 17 19148143 19148143 single base substitution T C intron_variant MELA-AU 17 19148143 19148143 single base substitution T C upstream_gene_variant MELA-AU 17 19149561 19149561 single base substitution C T intron_variant MELA-AU 17 19149561 19149561 single base substitution C T upstream_gene_variant MELA-AU 17 19150006 19150006 single base substitution C T intron_variant MELA-AU 17 19150006 19150006 single base substitution C T upstream_gene_variant MELA-AU 17 19150232 19150232 single base substitution C T intron_variant MELA-AU 17 19150232 19150232 single base substitution C T upstream_gene_variant MELA-AU 17 19150835 19150835 single base substitution C T intron_variant MELA-AU 17 19150835 19150835 single base substitution C T upstream_gene_variant MELA-AU 17 19151084 19151084 single base substitution C T intron_variant MELA-AU 17 19151084 19151084 single base substitution C T upstream_gene_variant MELA-AU 17 19151802 19151802 single base substitution C T intron_variant MELA-AU 17 19151933 19151933 single base substitution G A intron_variant MELA-AU 17 19153281 19153281 single base substitution C T intron_variant MELA-AU 17 19153287 19153287 single base substitution G A intron_variant MELA-AU 17 19153447 19153448 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19153803 19153803 single base substitution G A intron_variant MELA-AU 17 19154207 19154207 single base substitution C T intron_variant MELA-AU 17 19154905 19154905 single base substitution C T intron_variant MELA-AU 17 19157738 19157738 single base substitution C T intron_variant MELA-AU 17 19157738 19157738 single base substitution C T upstream_gene_variant MELA-AU 17 19157832 19157832 single base substitution G A intron_variant MELA-AU 17 19157832 19157832 single base substitution G A upstream_gene_variant MELA-AU 17 19158594 19158594 single base substitution T C intron_variant MELA-AU 17 19158594 19158594 single base substitution T C upstream_gene_variant MELA-AU 17 19159436 19159436 single base substitution G A intron_variant MELA-AU 17 19159436 19159436 single base substitution G A upstream_gene_variant MELA-AU 17 19160534 19160534 single base substitution C T intron_variant MELA-AU 17 19160534 19160534 single base substitution C T upstream_gene_variant MELA-AU 17 19160535 19160535 single base substitution C T intron_variant MELA-AU 17 19160535 19160535 single base substitution C T upstream_gene_variant MELA-AU 17 19160779 19160779 single base substitution C T intron_variant MELA-AU 17 19160779 19160779 single base substitution C T upstream_gene_variant MELA-AU 17 19161088 19161088 single base substitution C T intron_variant MELA-AU 17 19161088 19161088 single base substitution C T upstream_gene_variant MELA-AU 17 19161254 19161254 single base substitution C T 5_prime_UTR_variant MELA-AU 17 19161254 19161254 single base substitution C T intron_variant MELA-AU 17 19161301 19161301 single base substitution C T 5_prime_UTR_variant MELA-AU 17 19161301 19161301 single base substitution C T intron_variant MELA-AU 17 19161372 19161372 single base substitution G A intron_variant MELA-AU 17 19162173 19162173 single base substitution C T intron_variant MELA-AU 17 19162340 19162340 single base substitution C T intron_variant MELA-AU 17 19162414 19162414 single base substitution C T intron_variant MELA-AU 17 19163423 19163423 single base substitution C T intron_variant MELA-AU 17 19163659 19163659 single base substitution G A intron_variant MELA-AU 17 19163887 19163888 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19164156 19164156 single base substitution C T intron_variant MELA-AU 17 19165100 19165100 single base substitution C T intron_variant MELA-AU 17 19165599 19165599 single base substitution C T intron_variant MELA-AU 17 19165750 19165750 single base substitution C T intron_variant MELA-AU 17 19166051 19166051 single base substitution A G intron_variant MELA-AU 17 19166960 19166961 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 17 19167190 19167190 single base substitution C T intron_variant MELA-AU 17 19167506 19167506 single base substitution C T intron_variant MELA-AU 17 19168287 19168287 single base substitution C T intron_variant MELA-AU 17 19168375 19168375 single base substitution G A intron_variant MELA-AU 17 19169100 19169100 single base substitution C T intron_variant MELA-AU 17 19169289 19169289 single base substitution C T intron_variant MELA-AU 17 19169433 19169433 single base substitution C T intron_variant MELA-AU 17 19169598 19169598 single base substitution T C intron_variant MELA-AU 17 19169814 19169814 single base substitution C T intron_variant MELA-AU 17 19169950 19169950 single base substitution C T intron_variant MELA-AU 17 19170080 19170080 single base substitution A G intron_variant MELA-AU 17 19170248 19170248 single base substitution C T intron_variant MELA-AU 17 19170377 19170377 single base substitution C T intron_variant MELA-AU 17 19170379 19170379 single base substitution C T intron_variant MELA-AU 17 19170437 19170437 single base substitution C T intron_variant MELA-AU 17 19171761 19171761 single base substitution C T intron_variant MELA-AU 17 19171781 19171781 single base substitution C T intron_variant MELA-AU 17 19172658 19172658 single base substitution G A intron_variant MELA-AU 17 19174524 19174524 single base substitution T C intron_variant MELA-AU 17 19174808 19174808 single base substitution G T intron_variant MELA-AU 17 19174860 19174860 single base substitution A C intron_variant MELA-AU 17 19174860 19174860 single base substitution A C splice_acceptor_variant MELA-AU 17 19175409 19175409 single base substitution C T intron_variant MELA-AU 17 19176485 19176485 single base substitution C T exon_variant MELA-AU 17 19176485 19176485 single base substitution C T intron_variant MELA-AU 17 19176918 19176918 single base substitution C T intron_variant MELA-AU 17 19177637 19177637 single base substitution G A downstream_gene_variant MELA-AU 17 19177637 19177637 single base substitution G A exon_variant MELA-AU 17 19177637 19177637 single base substitution G A intron_variant MELA-AU 17 19177905 19177905 single base substitution C T downstream_gene_variant MELA-AU 17 19177905 19177905 single base substitution C T intron_variant MELA-AU 17 19177952 19177952 single base substitution C T downstream_gene_variant MELA-AU 17 19177952 19177952 single base substitution C T intron_variant MELA-AU 17 19178336 19178336 single base substitution C T downstream_gene_variant MELA-AU 17 19178336 19178336 single base substitution C T intron_variant MELA-AU 17 19178506 19178506 single base substitution C T downstream_gene_variant MELA-AU 17 19178506 19178506 single base substitution C T intron_variant MELA-AU 17 19178629 19178629 single base substitution G A downstream_gene_variant MELA-AU 17 19178629 19178629 single base substitution G A intron_variant MELA-AU 17 19178706 19178706 single base substitution T G downstream_gene_variant MELA-AU 17 19178706 19178706 single base substitution T G intron_variant MELA-AU 17 19180089 19180089 single base substitution T A downstream_gene_variant MELA-AU 17 19180089 19180089 single base substitution T A intron_variant MELA-AU 17 19180651 19180651 single base substitution T C downstream_gene_variant MELA-AU 17 19180651 19180651 single base substitution T C intron_variant MELA-AU 17 19180651 19180651 single base substitution T C upstream_gene_variant MELA-AU 17 19182596 19182596 single base substitution C T downstream_gene_variant MELA-AU 17 19182596 19182596 single base substitution C T intron_variant MELA-AU 17 19182596 19182596 single base substitution C T upstream_gene_variant MELA-AU 17 19183043 19183043 single base substitution C T intron_variant MELA-AU 17 19183043 19183043 single base substitution C T upstream_gene_variant MELA-AU 17 19183188 19183188 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 19183188 19183188 single base substitution C T exon_variant MELA-AU 17 19183188 19183188 single base substitution C T intron_variant MELA-AU 17 19183188 19183188 single base substitution C T upstream_gene_variant MELA-AU 17 19183372 19183372 single base substitution G A intron_variant MELA-AU 17 19183372 19183372 single base substitution G A upstream_gene_variant MELA-AU 17 19183597 19183597 single base substitution C T intron_variant MELA-AU 17 19183597 19183597 single base substitution C T upstream_gene_variant MELA-AU 17 19183858 19183858 single base substitution C T intron_variant MELA-AU 17 19183858 19183858 single base substitution C T upstream_gene_variant MELA-AU 17 19183880 19183880 single base substitution G A intron_variant MELA-AU 17 19183880 19183880 single base substitution G A upstream_gene_variant MELA-AU 17 19183946 19183946 single base substitution C T intron_variant MELA-AU 17 19183946 19183946 single base substitution C T upstream_gene_variant MELA-AU 17 19184251 19184251 single base substitution C T intron_variant MELA-AU 17 19184251 19184251 single base substitution C T upstream_gene_variant MELA-AU 17 19184402 19184402 single base substitution C T intron_variant MELA-AU 17 19184402 19184402 single base substitution C T upstream_gene_variant MELA-AU 17 19185101 19185101 single base substitution C T intron_variant MELA-AU 17 19185101 19185101 single base substitution C T upstream_gene_variant MELA-AU 17 19185233 19185233 single base substitution C T intron_variant MELA-AU 17 19185233 19185233 single base substitution C T upstream_gene_variant MELA-AU 17 19185283 19185283 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 19185283 19185283 single base substitution C T exon_variant MELA-AU 17 19185283 19185283 single base substitution C T intron_variant MELA-AU 17 19185283 19185283 single base substitution C T upstream_gene_variant MELA-AU 17 19186136 19186136 single base substitution T G 5_prime_UTR_variant MELA-AU 17 19186136 19186136 single base substitution T G intron_variant MELA-AU 17 19186136 19186136 single base substitution T G upstream_gene_variant MELA-AU 17 19186201 19186201 single base substitution C T 5_prime_UTR_variant MELA-AU 17 19186201 19186201 single base substitution C T intron_variant MELA-AU 17 19186201 19186201 single base substitution C T upstream_gene_variant MELA-AU 17 19186343 19186343 single base substitution G A 5_prime_UTR_variant MELA-AU 17 19186343 19186343 single base substitution G A downstream_gene_variant MELA-AU 17 19186343 19186343 single base substitution G A exon_variant MELA-AU 17 19186343 19186343 single base substitution G A intron_variant MELA-AU 17 19186343 19186343 single base substitution G A upstream_gene_variant MELA-AU 17 19186952 19186952 single base substitution C T downstream_gene_variant MELA-AU 17 19186952 19186952 single base substitution C T exon_variant MELA-AU 17 19186952 19186952 single base substitution C T intron_variant MELA-AU 17 19186952 19186952 single base substitution C T stop_gained Q174* 520C>T MELA-AU 17 19187003 19187003 single base substitution G A downstream_gene_variant MELA-AU 17 19187003 19187003 single base substitution G A exon_variant MELA-AU 17 19187003 19187003 single base substitution G A intron_variant MELA-AU 17 19187003 19187003 single base substitution G A missense_variant G191S 571G>A MELA-AU 17 19187771 19187771 single base substitution C T downstream_gene_variant MELA-AU 17 19187771 19187771 single base substitution C T intron_variant MELA-AU 17 19188058 19188058 single base substitution G A downstream_gene_variant MELA-AU 17 19188058 19188058 single base substitution G A intron_variant MELA-AU 17 19188249 19188249 single base substitution T C downstream_gene_variant MELA-AU 17 19188249 19188249 single base substitution T C intron_variant MELA-AU 17 19189093 19189093 single base substitution C G downstream_gene_variant MELA-AU 17 19189093 19189093 single base substitution C G intron_variant MELA-AU 17 19189093 19189093 single base substitution C G synonymous_variant R252R 756C>G MELA-AU 17 19189607 19189607 single base substitution C T downstream_gene_variant MELA-AU 17 19189607 19189607 single base substitution C T intron_variant MELA-AU 17 19190540 19190540 single base substitution C T downstream_gene_variant MELA-AU 17 19190540 19190540 single base substitution C T intron_variant MELA-AU 17 19190842 19190842 single base substitution C T downstream_gene_variant MELA-AU 17 19190842 19190842 single base substitution C T intron_variant MELA-AU 17 19191404 19191404 single base substitution C T downstream_gene_variant MELA-AU 17 19191404 19191404 single base substitution C T intron_variant MELA-AU 17 19191693 19191693 deletion of <=200bp T - downstream_gene_variant MELA-AU 17 19191693 19191693 deletion of <=200bp T - intron_variant MELA-AU 17 19192308 19192308 single base substitution C T intron_variant MELA-AU 17 19193106 19193106 single base substitution C T intron_variant MELA-AU 17 19193829 19193829 single base substitution C T intron_variant MELA-AU 17 19193862 19193863 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 17 19195642 19195642 single base substitution G A intron_variant MELA-AU 17 19195898 19195898 single base substitution G A intron_variant MELA-AU 17 19196387 19196387 single base substitution T G intron_variant MELA-AU 17 19197031 19197031 single base substitution C T intron_variant MELA-AU 17 19197316 19197316 single base substitution T C intron_variant MELA-AU 17 19198035 19198035 single base substitution C T intron_variant MELA-AU 17 19198036 19198037 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19198496 19198496 single base substitution C T intron_variant MELA-AU 17 19199455 19199455 single base substitution T A intron_variant MELA-AU 17 19200111 19200111 single base substitution G A intron_variant MELA-AU 17 19201236 19201236 single base substitution C T intron_variant MELA-AU 17 19201309 19201309 single base substitution C T intron_variant MELA-AU 17 19201633 19201633 single base substitution G A intron_variant MELA-AU 17 19201999 19201999 single base substitution G A intron_variant MELA-AU 17 19202038 19202038 single base substitution G A intron_variant MELA-AU 17 19202683 19202683 single base substitution C T intron_variant MELA-AU 17 19202767 19202767 single base substitution G A intron_variant MELA-AU 17 19203449 19203450 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19203468 19203469 multiple base substitution (>=2bp and <=200bp) GA TG intron_variant MELA-AU 17 19203622 19203622 single base substitution G A intron_variant MELA-AU 17 19203852 19203852 single base substitution C A intron_variant MELA-AU 17 19204895 19204895 single base substitution A G intron_variant MELA-AU 17 19205038 19205038 single base substitution C T intron_variant MELA-AU 17 19205055 19205055 single base substitution C T intron_variant MELA-AU 17 19205116 19205116 single base substitution C T intron_variant MELA-AU 17 19205119 19205119 single base substitution C T intron_variant MELA-AU 17 19205708 19205708 single base substitution A T intron_variant MELA-AU 17 19206400 19206400 single base substitution C T intron_variant MELA-AU 17 19206600 19206600 single base substitution C T intron_variant MELA-AU 17 19206776 19206776 single base substitution C T intron_variant MELA-AU 17 19207165 19207166 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19207885 19207886 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19207996 19207996 single base substitution C T intron_variant MELA-AU 17 19208200 19208200 single base substitution C T intron_variant MELA-AU 17 19208314 19208314 single base substitution C T intron_variant MELA-AU 17 19208314 19208314 single base substitution C T upstream_gene_variant MELA-AU 17 19208788 19208788 single base substitution C T intron_variant MELA-AU 17 19208788 19208788 single base substitution C T upstream_gene_variant MELA-AU 17 19209785 19209785 single base substitution G A intron_variant MELA-AU 17 19209785 19209785 single base substitution G A upstream_gene_variant MELA-AU 17 19214176 19214176 single base substitution C G intron_variant MELA-AU 17 19214176 19214176 single base substitution C G upstream_gene_variant MELA-AU 17 19214581 19214581 single base substitution G A intron_variant MELA-AU 17 19214581 19214581 single base substitution G A upstream_gene_variant MELA-AU 17 19214991 19214991 single base substitution C T intron_variant MELA-AU 17 19214991 19214991 single base substitution C T upstream_gene_variant MELA-AU 17 19215451 19215451 single base substitution G A exon_variant MELA-AU 17 19215451 19215451 single base substitution G A synonymous_variant K265K 795G>A MELA-AU 17 19215451 19215451 single base substitution G A synonymous_variant K322K 966G>A MELA-AU 17 19215451 19215451 single base substitution G A synonymous_variant K37K 111G>A MELA-AU 17 19215451 19215451 single base substitution G A upstream_gene_variant MELA-AU 17 19215948 19215948 single base substitution T A intron_variant MELA-AU 17 19215948 19215948 single base substitution T A upstream_gene_variant MELA-AU 17 19215971 19215971 single base substitution G A intron_variant MELA-AU 17 19215971 19215971 single base substitution G A upstream_gene_variant MELA-AU 17 19216264 19216264 single base substitution G T exon_variant MELA-AU 17 19216264 19216264 single base substitution G T intron_variant MELA-AU 17 19216292 19216292 single base substitution C T exon_variant MELA-AU 17 19216292 19216292 single base substitution C T intron_variant MELA-AU 17 19216466 19216466 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19216466 19216466 single base substitution C T exon_variant MELA-AU 17 19216466 19216466 single base substitution C T intron_variant MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L277F 829C>T MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L284F 850C>T MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L341F 1021C>T MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L49F 145C>T MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L50F 148C>T MELA-AU 17 19216466 19216466 single base substitution C T missense_variant L56F 166C>T MELA-AU 17 19216587 19216587 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19216587 19216587 single base substitution C T exon_variant MELA-AU 17 19216587 19216587 single base substitution C T intron_variant MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S317L 950C>T MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S324L 971C>T MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S381L 1142C>T MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S89L 266C>T MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S90L 269C>T MELA-AU 17 19216587 19216587 single base substitution C T missense_variant S96L 287C>T MELA-AU 17 19216734 19216734 single base substitution C T exon_variant MELA-AU 17 19216734 19216734 single base substitution C T intron_variant MELA-AU 17 19216747 19216760 deletion of <=200bp GCCCTCCTCCTTGA - exon_variant MELA-AU 17 19216747 19216760 deletion of <=200bp GCCCTCCTCCTTGA - intron_variant MELA-AU 17 19216781 19216781 single base substitution C T exon_variant MELA-AU 17 19216781 19216781 single base substitution C T intron_variant MELA-AU 17 19217067 19217067 single base substitution C T downstream_gene_variant MELA-AU 17 19217067 19217067 single base substitution C T intron_variant MELA-AU 17 19217068 19217068 single base substitution C T downstream_gene_variant MELA-AU 17 19217068 19217068 single base substitution C T intron_variant MELA-AU 17 19217360 19217360 single base substitution C T downstream_gene_variant MELA-AU 17 19217360 19217360 single base substitution C T intron_variant MELA-AU 17 19217512 19217512 single base substitution C T downstream_gene_variant MELA-AU 17 19217512 19217512 single base substitution C T intron_variant MELA-AU 17 19218166 19218166 single base substitution C T downstream_gene_variant MELA-AU 17 19218166 19218166 single base substitution C T intron_variant MELA-AU 17 19218272 19218272 single base substitution T C downstream_gene_variant MELA-AU 17 19218272 19218272 single base substitution T C intron_variant MELA-AU 17 19218286 19218286 single base substitution G A downstream_gene_variant MELA-AU 17 19218286 19218286 single base substitution G A intron_variant MELA-AU 17 19218547 19218555 deletion of <=200bp TGGACCCAG - downstream_gene_variant MELA-AU 17 19218547 19218555 deletion of <=200bp TGGACCCAG - intron_variant MELA-AU 17 19218680 19218680 single base substitution C T downstream_gene_variant MELA-AU 17 19218680 19218680 single base substitution C T intron_variant MELA-AU 17 19219381 19219381 single base substitution C T downstream_gene_variant MELA-AU 17 19219381 19219381 single base substitution C T intron_variant MELA-AU 17 19219728 19219728 single base substitution C T downstream_gene_variant MELA-AU 17 19219728 19219728 single base substitution C T intron_variant MELA-AU 17 19220000 19220000 single base substitution C T downstream_gene_variant MELA-AU 17 19220000 19220000 single base substitution C T intron_variant MELA-AU 17 19220369 19220369 single base substitution C T downstream_gene_variant MELA-AU 17 19220369 19220369 single base substitution C T intron_variant MELA-AU 17 19224666 19224666 single base substitution C G intron_variant MELA-AU 17 19224874 19224874 single base substitution C T intron_variant MELA-AU 17 19225082 19225082 single base substitution C T intron_variant MELA-AU 17 19225237 19225237 single base substitution C T intron_variant MELA-AU 17 19225627 19225627 single base substitution C T intron_variant MELA-AU 17 19226844 19226844 single base substitution G A intron_variant MELA-AU 17 19227688 19227688 single base substitution C T intron_variant MELA-AU 17 19227688 19227688 single base substitution C T upstream_gene_variant MELA-AU 17 19227871 19227871 single base substitution C T intron_variant MELA-AU 17 19227871 19227871 single base substitution C T upstream_gene_variant MELA-AU 17 19227965 19227965 single base substitution A G intron_variant MELA-AU 17 19227965 19227965 single base substitution A G upstream_gene_variant MELA-AU 17 19228311 19228311 single base substitution C T intron_variant MELA-AU 17 19228311 19228311 single base substitution C T upstream_gene_variant MELA-AU 17 19228516 19228516 single base substitution C T intron_variant MELA-AU 17 19228516 19228516 single base substitution C T upstream_gene_variant MELA-AU 17 19228634 19228634 single base substitution T G intron_variant MELA-AU 17 19228634 19228634 single base substitution T G upstream_gene_variant MELA-AU 17 19228745 19228745 single base substitution C T intron_variant MELA-AU 17 19228745 19228745 single base substitution C T upstream_gene_variant MELA-AU 17 19229292 19229292 single base substitution A C intron_variant MELA-AU 17 19229292 19229292 single base substitution A C upstream_gene_variant MELA-AU 17 19229335 19229335 single base substitution T G intron_variant MELA-AU 17 19229335 19229335 single base substitution T G upstream_gene_variant MELA-AU 17 19229337 19229337 single base substitution C T intron_variant MELA-AU 17 19229337 19229337 single base substitution C T upstream_gene_variant MELA-AU 17 19230656 19230656 single base substitution G A intron_variant MELA-AU 17 19230656 19230656 single base substitution G A upstream_gene_variant MELA-AU 17 19230818 19230818 single base substitution C T intron_variant MELA-AU 17 19230818 19230818 single base substitution C T upstream_gene_variant MELA-AU 17 19231146 19231146 single base substitution G A intron_variant MELA-AU 17 19231146 19231146 single base substitution G A upstream_gene_variant MELA-AU 17 19231181 19231181 single base substitution C T intron_variant MELA-AU 17 19231181 19231181 single base substitution C T upstream_gene_variant MELA-AU 17 19231589 19231589 single base substitution T A intron_variant MELA-AU 17 19231589 19231589 single base substitution T A upstream_gene_variant MELA-AU 17 19231650 19231650 single base substitution G A intron_variant MELA-AU 17 19231650 19231650 single base substitution G A upstream_gene_variant MELA-AU 17 19232043 19232043 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19232043 19232043 single base substitution C T exon_variant MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S104S 312C>T MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S325S 975C>T MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S332S 996C>T MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S389S 1167C>T MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S97S 291C>T MELA-AU 17 19232043 19232043 single base substitution C T synonymous_variant S98S 294C>T MELA-AU 17 19232043 19232043 single base substitution C T upstream_gene_variant MELA-AU 17 19232225 19232225 single base substitution C T downstream_gene_variant MELA-AU 17 19232225 19232225 single base substitution C T intron_variant MELA-AU 17 19232225 19232225 single base substitution C T upstream_gene_variant MELA-AU 17 19232680 19232680 single base substitution C T downstream_gene_variant MELA-AU 17 19232680 19232680 single base substitution C T exon_variant MELA-AU 17 19232680 19232680 single base substitution C T intron_variant MELA-AU 17 19233963 19233964 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 19233963 19233964 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 19233963 19233964 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 19234797 19234797 single base substitution T A downstream_gene_variant MELA-AU 17 19234797 19234797 single base substitution T A intron_variant MELA-AU 17 19235221 19235221 single base substitution C G downstream_gene_variant MELA-AU 17 19235221 19235221 single base substitution C G exon_variant MELA-AU 17 19235221 19235221 single base substitution C G intron_variant MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P197P 591C>G MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P198P 594C>G MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P204P 612C>G MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P425P 1275C>G MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P432P 1296C>G MELA-AU 17 19235221 19235221 single base substitution C G synonymous_variant P489P 1467C>G MELA-AU 17 19235997 19235997 single base substitution C T downstream_gene_variant MELA-AU 17 19235997 19235997 single base substitution C T intron_variant MELA-AU 17 19236004 19236004 single base substitution C T downstream_gene_variant MELA-AU 17 19236004 19236004 single base substitution C T intron_variant MELA-AU 17 19236167 19236167 single base substitution C T downstream_gene_variant MELA-AU 17 19236167 19236167 single base substitution C T intron_variant MELA-AU 17 19236563 19236563 single base substitution C T downstream_gene_variant MELA-AU 17 19236563 19236563 single base substitution C T intron_variant MELA-AU 17 19236698 19236698 single base substitution C T downstream_gene_variant MELA-AU 17 19236698 19236698 single base substitution C T intron_variant MELA-AU 17 19236859 19236859 single base substitution G A downstream_gene_variant MELA-AU 17 19236859 19236859 single base substitution G A intron_variant MELA-AU 17 19236908 19236908 single base substitution C T downstream_gene_variant MELA-AU 17 19236908 19236908 single base substitution C T intron_variant MELA-AU 17 19237230 19237230 single base substitution C T downstream_gene_variant MELA-AU 17 19237230 19237230 single base substitution C T intron_variant MELA-AU 17 19237566 19237566 single base substitution A G downstream_gene_variant MELA-AU 17 19237566 19237566 single base substitution A G intron_variant MELA-AU 17 19237566 19237566 single base substitution A G stop_lost *350W 1049A>G MELA-AU 17 19237566 19237566 single base substitution A G stop_lost *357W 1070A>G MELA-AU 17 19237566 19237566 single base substitution A G stop_lost *578W 1733A>G MELA-AU 17 19237566 19237566 single base substitution A G stop_lost *585W 1754A>G MELA-AU 17 19237566 19237566 single base substitution A G stop_lost *642W 1925A>G MELA-AU 17 19238193 19238193 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19238193 19238193 single base substitution C T downstream_gene_variant MELA-AU 17 19238193 19238193 single base substitution C T intron_variant MELA-AU 17 19238624 19238624 single base substitution G A 3_prime_UTR_variant MELA-AU 17 19238624 19238624 single base substitution G A downstream_gene_variant MELA-AU 17 19238624 19238624 single base substitution G A intron_variant MELA-AU 17 19238702 19238702 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19238702 19238702 single base substitution C T downstream_gene_variant MELA-AU 17 19238702 19238702 single base substitution C T intron_variant MELA-AU 17 19239100 19239100 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19239100 19239100 single base substitution C T downstream_gene_variant MELA-AU 17 19239152 19239152 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19239152 19239152 single base substitution C T downstream_gene_variant MELA-AU 17 19239255 19239255 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19239255 19239255 single base substitution C T downstream_gene_variant MELA-AU 17 19239676 19239676 single base substitution C T 3_prime_UTR_variant MELA-AU 17 19239676 19239676 single base substitution C T downstream_gene_variant MELA-AU 17 19239950 19239950 single base substitution G A 3_prime_UTR_variant MELA-AU 17 19239950 19239950 single base substitution G A downstream_gene_variant MELA-AU 17 19240181 19240181 single base substitution T C downstream_gene_variant MELA-AU 17 19241235 19241235 single base substitution G A downstream_gene_variant MELA-AU 17 19241730 19241730 single base substitution C T downstream_gene_variant MELA-AU 17 19242252 19242252 single base substitution G A downstream_gene_variant MELA-AU 17 19243411 19243411 single base substitution C T downstream_gene_variant MELA-AU 17 19243577 19243577 single base substitution G A downstream_gene_variant MELA-AU 17 19243806 19243806 single base substitution T G downstream_gene_variant MELA-AU 17 19243926 19243927 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 19244955 19244955 single base substitution G T downstream_gene_variant ORCA-IN 17 19169366 19169366 single base substitution T C intron_variant ORCA-IN 17 19178958 19178958 single base substitution G A downstream_gene_variant ORCA-IN 17 19178958 19178958 single base substitution G A intron_variant ORCA-IN 17 19216560 19216560 single base substitution C A 3_prime_UTR_variant ORCA-IN 17 19216560 19216560 single base substitution C A exon_variant ORCA-IN 17 19216560 19216560 single base substitution C A intron_variant ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P308H 923C>A ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P315H 944C>A ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P372H 1115C>A ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P80H 239C>A ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P81H 242C>A ORCA-IN 17 19216560 19216560 single base substitution C A missense_variant P87H 260C>A ORCA-IN 17 19218479 19218479 single base substitution C G downstream_gene_variant ORCA-IN 17 19218479 19218479 single base substitution C G intron_variant ORCA-IN 17 19223007 19223007 single base substitution C T intron_variant ORCA-IN 17 19232916 19232916 single base substitution A G downstream_gene_variant ORCA-IN 17 19232916 19232916 single base substitution A G exon_variant ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D164G 491A>G ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D165G 494A>G ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D171G 512A>G ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D392G 1175A>G ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D399G 1196A>G ORCA-IN 17 19232916 19232916 single base substitution A G missense_variant D456G 1367A>G ORCA-IN 17 19235343 19235343 single base substitution C A downstream_gene_variant ORCA-IN 17 19235343 19235343 single base substitution C A intron_variant ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A238D 713C>A ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A239D 716C>A ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A245D 734C>A ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A466D 1397C>A ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A473D 1418C>A ORCA-IN 17 19235343 19235343 single base substitution C A missense_variant A530D 1589C>A OV-AU 17 19140819 19140819 single base substitution A G 5_prime_UTR_variant OV-AU 17 19140819 19140819 single base substitution A G exon_variant OV-AU 17 19140819 19140819 single base substitution A G intron_variant OV-AU 17 19147024 19147024 single base substitution G A intron_variant OV-AU 17 19147024 19147024 single base substitution G A upstream_gene_variant OV-AU 17 19151561 19151561 single base substitution C T intron_variant OV-AU 17 19151561 19151561 single base substitution C T upstream_gene_variant OV-AU 17 19159622 19159622 single base substitution G T intron_variant OV-AU 17 19159622 19159622 single base substitution G T upstream_gene_variant OV-AU 17 19169297 19169297 single base substitution C T intron_variant OV-AU 17 19173496 19173496 single base substitution G A intron_variant OV-AU 17 19174968 19174968 single base substitution G T exon_variant OV-AU 17 19174968 19174968 single base substitution G T intron_variant OV-AU 17 19178980 19178980 single base substitution A C downstream_gene_variant OV-AU 17 19178980 19178980 single base substitution A C intron_variant OV-AU 17 19193521 19193521 single base substitution G T intron_variant OV-AU 17 19202880 19202880 single base substitution G T intron_variant OV-AU 17 19202881 19202881 single base substitution A G intron_variant OV-AU 17 19205787 19205787 single base substitution C T intron_variant OV-AU 17 19209303 19209303 single base substitution T G intron_variant OV-AU 17 19209303 19209303 single base substitution T G upstream_gene_variant OV-AU 17 19212519 19212519 single base substitution G T intron_variant OV-AU 17 19212519 19212519 single base substitution G T upstream_gene_variant OV-AU 17 19217210 19217210 single base substitution T G downstream_gene_variant OV-AU 17 19217210 19217210 single base substitution T G intron_variant OV-AU 17 19231408 19231408 single base substitution G C intron_variant OV-AU 17 19231408 19231408 single base substitution G C upstream_gene_variant PACA-AU 17 19156544 19156544 single base substitution T C intron_variant PACA-AU 17 19156544 19156544 single base substitution T C upstream_gene_variant PACA-AU 17 19185720 19185720 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 17 19185720 19185720 single base substitution T G intron_variant PACA-AU 17 19185720 19185720 single base substitution T G upstream_gene_variant PACA-AU 17 19190507 19190507 single base substitution G A downstream_gene_variant PACA-AU 17 19190507 19190507 single base substitution G A intron_variant PACA-AU 17 19201923 19201923 single base substitution C T intron_variant PACA-AU 17 19209266 19209266 single base substitution C T intron_variant PACA-AU 17 19209266 19209266 single base substitution C T upstream_gene_variant PACA-AU 17 19209926 19209926 single base substitution C A intron_variant PACA-AU 17 19209926 19209926 single base substitution C A upstream_gene_variant PACA-AU 17 19215809 19215818 deletion of <=200bp CCTCTTCAGC - intron_variant PACA-AU 17 19215809 19215818 deletion of <=200bp CCTCTTCAGC - upstream_gene_variant PACA-AU 17 19222829 19222829 single base substitution A G intron_variant PACA-CA 17 19135928 19135928 insertion of <=200bp - A intron_variant PACA-CA 17 19135928 19135928 insertion of <=200bp - A upstream_gene_variant PACA-CA 17 19144994 19145002 deletion of <=200bp AAACTTAGA - intron_variant PACA-CA 17 19146799 19146799 single base substitution G A intron_variant PACA-CA 17 19146799 19146799 single base substitution G A upstream_gene_variant PACA-CA 17 19149995 19149995 single base substitution C A intron_variant PACA-CA 17 19149995 19149995 single base substitution C A upstream_gene_variant PACA-CA 17 19150933 19150933 single base substitution T C intron_variant PACA-CA 17 19150933 19150933 single base substitution T C upstream_gene_variant PACA-CA 17 19152202 19152202 single base substitution C T intron_variant PACA-CA 17 19154563 19154563 single base substitution A T intron_variant PACA-CA 17 19161623 19161623 single base substitution C T intron_variant PACA-CA 17 19168908 19168908 single base substitution G A intron_variant PACA-CA 17 19169304 19169304 single base substitution C A intron_variant PACA-CA 17 19176577 19176577 deletion of <=200bp T - exon_variant PACA-CA 17 19176577 19176577 deletion of <=200bp T - intron_variant PACA-CA 17 19178155 19178155 single base substitution T G downstream_gene_variant PACA-CA 17 19178155 19178155 single base substitution T G intron_variant PACA-CA 17 19178541 19178541 single base substitution C A downstream_gene_variant PACA-CA 17 19178541 19178541 single base substitution C A intron_variant PACA-CA 17 19187606 19187606 single base substitution T C downstream_gene_variant PACA-CA 17 19187606 19187606 single base substitution T C intron_variant PACA-CA 17 19189634 19189634 single base substitution C A downstream_gene_variant PACA-CA 17 19189634 19189634 single base substitution C A intron_variant PACA-CA 17 19190515 19190515 single base substitution C T downstream_gene_variant PACA-CA 17 19190515 19190515 single base substitution C T intron_variant PACA-CA 17 19193378 19193378 single base substitution C G intron_variant PACA-CA 17 19194855 19194855 single base substitution G A intron_variant PACA-CA 17 19201232 19201232 single base substitution C T intron_variant PACA-CA 17 19202453 19202453 single base substitution G A intron_variant PACA-CA 17 19207415 19207415 insertion of <=200bp - AAAA intron_variant PACA-CA 17 19213580 19213580 single base substitution A T intron_variant PACA-CA 17 19213580 19213580 single base substitution A T upstream_gene_variant PACA-CA 17 19214433 19214433 single base substitution G A intron_variant PACA-CA 17 19214433 19214433 single base substitution G A upstream_gene_variant PACA-CA 17 19218931 19218931 single base substitution C T downstream_gene_variant PACA-CA 17 19218931 19218931 single base substitution C T intron_variant PACA-CA 17 19223246 19223246 single base substitution G A intron_variant PACA-CA 17 19225136 19225136 single base substitution G A intron_variant PACA-CA 17 19231566 19231566 single base substitution G A intron_variant PACA-CA 17 19231566 19231566 single base substitution G A upstream_gene_variant PACA-CA 17 19232897 19232897 single base substitution C G downstream_gene_variant PACA-CA 17 19232897 19232897 single base substitution C G exon_variant PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L158V 472C>G PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L159V 475C>G PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L165V 493C>G PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L386V 1156C>G PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L393V 1177C>G PACA-CA 17 19232897 19232897 single base substitution C G missense_variant L450V 1348C>G PACA-CA 17 19233326 19233326 single base substitution C T downstream_gene_variant PACA-CA 17 19233326 19233326 single base substitution C T intron_variant PACA-CA 17 19237840 19237840 single base substitution A T 3_prime_UTR_variant PACA-CA 17 19237840 19237840 single base substitution A T downstream_gene_variant PACA-CA 17 19237840 19237840 single base substitution A T intron_variant PACA-CA 17 19238651 19238651 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 17 19238651 19238651 insertion of <=200bp - A downstream_gene_variant PACA-CA 17 19238651 19238651 insertion of <=200bp - A intron_variant PACA-CA 17 19243973 19243973 single base substitution T G downstream_gene_variant PAEN-AU 17 19167694 19167694 single base substitution A G intron_variant PAEN-AU 17 19186959 19186959 single base substitution A C downstream_gene_variant PAEN-AU 17 19186959 19186959 single base substitution A C exon_variant PAEN-AU 17 19186959 19186959 single base substitution A C intron_variant PAEN-AU 17 19186959 19186959 single base substitution A C missense_variant N176T 527A>C PAEN-IT 17 19209089 19209089 single base substitution A G intron_variant PAEN-IT 17 19209089 19209089 single base substitution A G upstream_gene_variant PBCA-DE 17 19141365 19141365 single base substitution C T intron_variant PBCA-DE 17 19158224 19158224 single base substitution G T intron_variant PBCA-DE 17 19158224 19158224 single base substitution G T upstream_gene_variant PBCA-DE 17 19166955 19166955 single base substitution G A intron_variant PBCA-DE 17 19177543 19177543 single base substitution C T exon_variant PBCA-DE 17 19177543 19177543 single base substitution C T intron_variant PBCA-DE 17 19190831 19190831 single base substitution C A downstream_gene_variant PBCA-DE 17 19190831 19190831 single base substitution C A intron_variant PBCA-DE 17 19196444 19196444 single base substitution C T intron_variant PBCA-DE 17 19202785 19202785 single base substitution G T intron_variant PBCA-DE 17 19206238 19206238 single base substitution G A intron_variant PBCA-DE 17 19208994 19208994 single base substitution G A intron_variant PBCA-DE 17 19208994 19208994 single base substitution G A upstream_gene_variant PBCA-DE 17 19218043 19218043 single base substitution G A downstream_gene_variant PBCA-DE 17 19218043 19218043 single base substitution G A intron_variant PBCA-DE 17 19223640 19223640 single base substitution G A intron_variant PBCA-DE 17 19227669 19227669 single base substitution G A intron_variant PBCA-DE 17 19227669 19227669 single base substitution G A upstream_gene_variant PBCA-DE 17 19235480 19235480 single base substitution G A downstream_gene_variant PBCA-DE 17 19235480 19235480 single base substitution G A intron_variant PRAD-CA 17 19143430 19143430 single base substitution C T intron_variant PRAD-CA 17 19176391 19176391 single base substitution T C intron_variant PRAD-CA 17 19181128 19181128 single base substitution G C downstream_gene_variant PRAD-CA 17 19181128 19181128 single base substitution G C intron_variant PRAD-CA 17 19181128 19181128 single base substitution G C upstream_gene_variant PRAD-CA 17 19204995 19204995 single base substitution C A intron_variant PRAD-CA 17 19230488 19230488 single base substitution A C intron_variant PRAD-CA 17 19230488 19230488 single base substitution A C upstream_gene_variant PRAD-CA 17 19236267 19236267 single base substitution G T downstream_gene_variant PRAD-CA 17 19236267 19236267 single base substitution G T intron_variant PRAD-UK 17 19142479 19142479 single base substitution T A intron_variant PRAD-UK 17 19149922 19149922 single base substitution A T intron_variant PRAD-UK 17 19149922 19149922 single base substitution A T upstream_gene_variant PRAD-UK 17 19172823 19172824 deletion of <=200bp TG - intron_variant PRAD-UK 17 19180328 19180328 deletion of <=200bp G - downstream_gene_variant PRAD-UK 17 19180328 19180328 deletion of <=200bp G - intron_variant PRAD-UK 17 19180328 19180328 deletion of <=200bp G - upstream_gene_variant PRAD-UK 17 19182349 19182349 insertion of <=200bp - T downstream_gene_variant PRAD-UK 17 19182349 19182349 insertion of <=200bp - T intron_variant PRAD-UK 17 19182349 19182349 insertion of <=200bp - T upstream_gene_variant PRAD-UK 17 19203530 19203530 single base substitution A G intron_variant PRAD-UK 17 19227846 19227846 single base substitution A T intron_variant PRAD-UK 17 19227846 19227846 single base substitution A T upstream_gene_variant PRAD-UK 17 19228672 19228672 single base substitution A G intron_variant PRAD-UK 17 19228672 19228672 single base substitution A G upstream_gene_variant PRAD-US 17 19235303 19235303 single base substitution G A downstream_gene_variant PRAD-US 17 19235303 19235303 single base substitution G A intron_variant PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A225T 673G>A PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A226T 676G>A PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A232T 694G>A PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A453T 1357G>A PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A460T 1378G>A PRAD-US 17 19235303 19235303 single base substitution G A missense_variant A517T 1549G>A PRAD-US 17 19237548 19237548 deletion of <=200bp C - downstream_gene_variant PRAD-US 17 19237548 19237548 deletion of <=200bp C - frameshift_variant T344 PRAD-US 17 19237548 19237548 deletion of <=200bp C - frameshift_variant T351 PRAD-US 17 19237548 19237548 deletion of <=200bp C - frameshift_variant T572 PRAD-US 17 19237548 19237548 deletion of <=200bp C - frameshift_variant T579 PRAD-US 17 19237548 19237548 deletion of <=200bp C - frameshift_variant T636 PRAD-US 17 19237548 19237548 deletion of <=200bp C - intron_variant RECA-EU 17 19141662 19141662 single base substitution C T intron_variant RECA-EU 17 19154196 19154196 single base substitution T G intron_variant RECA-EU 17 19175285 19175285 single base substitution A C intron_variant RECA-EU 17 19180358 19180358 single base substitution A G downstream_gene_variant RECA-EU 17 19180358 19180358 single base substitution A G intron_variant RECA-EU 17 19180358 19180358 single base substitution A G upstream_gene_variant RECA-EU 17 19194033 19194033 single base substitution A G intron_variant RECA-EU 17 19202056 19202056 single base substitution G A intron_variant RECA-EU 17 19204093 19204093 single base substitution A C intron_variant RECA-EU 17 19207655 19207655 single base substitution G T intron_variant RECA-EU 17 19224121 19224121 single base substitution C T intron_variant RECA-EU 17 19232281 19232281 single base substitution C A downstream_gene_variant RECA-EU 17 19232281 19232281 single base substitution C A intron_variant RECA-EU 17 19232281 19232281 single base substitution C A upstream_gene_variant RECA-EU 17 19232996 19232996 single base substitution G A downstream_gene_variant RECA-EU 17 19232996 19232996 single base substitution G A intron_variant SKCA-BR 17 19135698 19135698 single base substitution C T intron_variant SKCA-BR 17 19135698 19135698 single base substitution C T upstream_gene_variant SKCA-BR 17 19135884 19135884 single base substitution G C intron_variant SKCA-BR 17 19135884 19135884 single base substitution G C upstream_gene_variant SKCA-BR 17 19138326 19138326 single base substitution G A intron_variant SKCA-BR 17 19138326 19138326 single base substitution G A upstream_gene_variant SKCA-BR 17 19140653 19140653 single base substitution C T intron_variant SKCA-BR 17 19140653 19140653 single base substitution C T upstream_gene_variant SKCA-BR 17 19140951 19140951 single base substitution A C intron_variant SKCA-BR 17 19146533 19146533 insertion of <=200bp - CT intron_variant SKCA-BR 17 19153182 19153182 single base substitution A G intron_variant SKCA-BR 17 19156419 19156419 single base substitution C T intron_variant SKCA-BR 17 19156419 19156419 single base substitution C T upstream_gene_variant SKCA-BR 17 19158798 19158798 single base substitution C T intron_variant SKCA-BR 17 19158798 19158798 single base substitution C T upstream_gene_variant SKCA-BR 17 19159181 19159181 single base substitution C T intron_variant SKCA-BR 17 19159181 19159181 single base substitution C T upstream_gene_variant SKCA-BR 17 19159957 19159957 single base substitution A G intron_variant SKCA-BR 17 19159957 19159957 single base substitution A G upstream_gene_variant SKCA-BR 17 19164337 19164337 single base substitution G A intron_variant SKCA-BR 17 19164376 19164376 single base substitution G A intron_variant SKCA-BR 17 19164889 19164889 single base substitution C T intron_variant SKCA-BR 17 19165383 19165383 single base substitution C T intron_variant SKCA-BR 17 19168371 19168372 deletion of <=200bp AG - intron_variant SKCA-BR 17 19168691 19168691 insertion of <=200bp - GAAA intron_variant SKCA-BR 17 19168691 19168691 insertion of <=200bp - GAA intron_variant SKCA-BR 17 19169160 19169160 single base substitution C T intron_variant SKCA-BR 17 19169462 19169462 single base substitution A T intron_variant SKCA-BR 17 19171016 19171016 single base substitution C T intron_variant SKCA-BR 17 19175809 19175809 single base substitution G A intron_variant SKCA-BR 17 19179436 19179436 single base substitution T G downstream_gene_variant SKCA-BR 17 19179436 19179436 single base substitution T G intron_variant SKCA-BR 17 19183465 19183465 single base substitution G A intron_variant SKCA-BR 17 19183465 19183465 single base substitution G A upstream_gene_variant SKCA-BR 17 19183943 19183943 single base substitution T A intron_variant SKCA-BR 17 19183943 19183943 single base substitution T A upstream_gene_variant SKCA-BR 17 19183944 19183944 single base substitution C T intron_variant SKCA-BR 17 19183944 19183944 single base substitution C T upstream_gene_variant SKCA-BR 17 19185249 19185249 single base substitution A G intron_variant SKCA-BR 17 19185249 19185249 single base substitution A G upstream_gene_variant SKCA-BR 17 19186213 19186213 single base substitution C T 5_prime_UTR_variant SKCA-BR 17 19186213 19186213 single base substitution C T intron_variant SKCA-BR 17 19186213 19186213 single base substitution C T upstream_gene_variant SKCA-BR 17 19189017 19189017 single base substitution A C downstream_gene_variant SKCA-BR 17 19189017 19189017 single base substitution A C intron_variant SKCA-BR 17 19189017 19189017 single base substitution A C missense_variant H227P 680A>C SKCA-BR 17 19192309 19192309 single base substitution C T intron_variant SKCA-BR 17 19193037 19193037 insertion of <=200bp - GTTTTGTTTTTTTTTTTTTT intron_variant SKCA-BR 17 19193039 19193039 insertion of <=200bp - TTTG intron_variant SKCA-BR 17 19200672 19200672 single base substitution A T intron_variant SKCA-BR 17 19204814 19204814 single base substitution C T intron_variant SKCA-BR 17 19220223 19220223 single base substitution C T downstream_gene_variant SKCA-BR 17 19220223 19220223 single base substitution C T intron_variant SKCA-BR 17 19221455 19221455 single base substitution C T downstream_gene_variant SKCA-BR 17 19221455 19221455 single base substitution C T intron_variant SKCA-BR 17 19221514 19221514 single base substitution C T downstream_gene_variant SKCA-BR 17 19221514 19221514 single base substitution C T intron_variant SKCA-BR 17 19222338 19222338 single base substitution C T intron_variant SKCA-BR 17 19224213 19224213 single base substitution C T intron_variant SKCA-BR 17 19234664 19234664 single base substitution C T downstream_gene_variant SKCA-BR 17 19234664 19234664 single base substitution C T intron_variant SKCA-BR 17 19235601 19235601 single base substitution C T downstream_gene_variant SKCA-BR 17 19235601 19235601 single base substitution C T intron_variant SKCA-BR 17 19235802 19235802 single base substitution C T downstream_gene_variant SKCA-BR 17 19235802 19235802 single base substitution C T intron_variant SKCA-BR 17 19237797 19237797 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 19237797 19237797 single base substitution C T downstream_gene_variant SKCA-BR 17 19237797 19237797 single base substitution C T intron_variant SKCA-BR 17 19238814 19238814 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 19238814 19238814 single base substitution C T downstream_gene_variant SKCA-BR 17 19240658 19240658 single base substitution T G downstream_gene_variant SKCM-US 17 19186624 19186624 single base substitution G A downstream_gene_variant SKCM-US 17 19186624 19186624 single base substitution G A exon_variant SKCM-US 17 19186624 19186624 single base substitution G A intron_variant SKCM-US 17 19186624 19186624 single base substitution G A synonymous_variant L64L 192G>A SKCM-US 17 19186759 19186759 single base substitution C T downstream_gene_variant SKCM-US 17 19186759 19186759 single base substitution C T exon_variant SKCM-US 17 19186759 19186759 single base substitution C T intron_variant SKCM-US 17 19186759 19186759 single base substitution C T synonymous_variant F109F 327C>T SKCM-US 17 19186844 19186844 single base substitution G A downstream_gene_variant SKCM-US 17 19186844 19186844 single base substitution G A exon_variant SKCM-US 17 19186844 19186844 single base substitution G A intron_variant SKCM-US 17 19186844 19186844 single base substitution G A missense_variant E138K 412G>A SKCM-US 17 19215451 19215451 single base substitution G A exon_variant SKCM-US 17 19215451 19215451 single base substitution G A synonymous_variant K265K 795G>A SKCM-US 17 19215451 19215451 single base substitution G A synonymous_variant K322K 966G>A SKCM-US 17 19215451 19215451 single base substitution G A synonymous_variant K37K 111G>A SKCM-US 17 19215451 19215451 single base substitution G A upstream_gene_variant SKCM-US 17 19216440 19216440 single base substitution C T exon_variant SKCM-US 17 19216440 19216440 single base substitution C T intron_variant SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T268I 803C>T SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T275I 824C>T SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T332I 995C>T SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T40I 119C>T SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T41I 122C>T SKCM-US 17 19216440 19216440 single base substitution C T missense_variant T47I 140C>T SKCM-US 17 19216440 19216440 single base substitution C T splice_region_variant SKCM-US 17 19237289 19237289 single base substitution C T downstream_gene_variant SKCM-US 17 19237289 19237289 single base substitution C T intron_variant SKCM-US 17 19237289 19237289 single base substitution C T missense_variant P258S 772C>T SKCM-US 17 19237289 19237289 single base substitution C T missense_variant P265S 793C>T SKCM-US 17 19237289 19237289 single base substitution C T missense_variant P486S 1456C>T SKCM-US 17 19237289 19237289 single base substitution C T missense_variant P493S 1477C>T SKCM-US 17 19237289 19237289 single base substitution C T missense_variant P550S 1648C>T SKCM-US 17 19237303 19237303 single base substitution C T downstream_gene_variant SKCM-US 17 19237303 19237303 single base substitution C T intron_variant SKCM-US 17 19237303 19237303 single base substitution C T synonymous_variant F262F 786C>T SKCM-US 17 19237303 19237303 single base substitution C T synonymous_variant F269F 807C>T SKCM-US 17 19237303 19237303 single base substitution C T synonymous_variant F490F 1470C>T SKCM-US 17 19237303 19237303 single base substitution C T synonymous_variant F497F 1491C>T SKCM-US 17 19237303 19237303 single base substitution C T synonymous_variant F554F 1662C>T STAD-US 17 19186549 19186549 single base substitution G A downstream_gene_variant STAD-US 17 19186549 19186549 single base substitution G A exon_variant STAD-US 17 19186549 19186549 single base substitution G A intron_variant STAD-US 17 19186549 19186549 single base substitution G A synonymous_variant L39L 117G>A STAD-US 17 19186555 19186555 single base substitution C T downstream_gene_variant STAD-US 17 19186555 19186555 single base substitution C T exon_variant STAD-US 17 19186555 19186555 single base substitution C T intron_variant STAD-US 17 19186555 19186555 single base substitution C T synonymous_variant T41T 123C>T STAD-US 17 19186779 19186779 single base substitution G A downstream_gene_variant STAD-US 17 19186779 19186779 single base substitution G A exon_variant STAD-US 17 19186779 19186779 single base substitution G A intron_variant STAD-US 17 19186779 19186779 single base substitution G A missense_variant G116D 347G>A STAD-US 17 19186802 19186802 single base substitution C T downstream_gene_variant STAD-US 17 19186802 19186802 single base substitution C T exon_variant STAD-US 17 19186802 19186802 single base substitution C T intron_variant STAD-US 17 19186802 19186802 single base substitution C T missense_variant R124C 370C>T STAD-US 17 19216468 19216468 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 17 19216468 19216468 deletion of <=200bp C - exon_variant STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L277 STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L284 STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L341 STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L49 STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L50 STAD-US 17 19216468 19216468 deletion of <=200bp C - frameshift_variant L56 STAD-US 17 19216468 19216468 deletion of <=200bp C - intron_variant STAD-US 17 19232061 19232061 single base substitution G A 3_prime_UTR_variant STAD-US 17 19232061 19232061 single base substitution G A exon_variant STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V103V 309G>A STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V104V 312G>A STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V110V 330G>A STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V331V 993G>A STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V338V 1014G>A STAD-US 17 19232061 19232061 single base substitution G A synonymous_variant V395V 1185G>A STAD-US 17 19232061 19232061 single base substitution G A upstream_gene_variant STAD-US 17 19232950 19232950 insertion of <=200bp - A downstream_gene_variant STAD-US 17 19232950 19232950 insertion of <=200bp - A exon_variant STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S175S? STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S176S? STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S182S? STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S403S? STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S410S? STAD-US 17 19232950 19232950 insertion of <=200bp - A frameshift_variant S467S? STAD-US 17 19235245 19235245 single base substitution C T downstream_gene_variant STAD-US 17 19235245 19235245 single base substitution C T exon_variant STAD-US 17 19235245 19235245 single base substitution C T intron_variant STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V205V 615C>T STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V206V 618C>T STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V212V 636C>T STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V433V 1299C>T STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V440V 1320C>T STAD-US 17 19235245 19235245 single base substitution C T synonymous_variant V497V 1491C>T STAD-US 17 19235367 19235367 single base substitution C A downstream_gene_variant STAD-US 17 19235367 19235367 single base substitution C A intron_variant STAD-US 17 19235367 19235367 single base substitution C A missense_variant P246H 737C>A STAD-US 17 19235367 19235367 single base substitution C A missense_variant P247H 740C>A STAD-US 17 19235367 19235367 single base substitution C A missense_variant P253H 758C>A STAD-US 17 19235367 19235367 single base substitution C A missense_variant P474H 1421C>A STAD-US 17 19235367 19235367 single base substitution C A missense_variant P481H 1442C>A STAD-US 17 19235367 19235367 single base substitution C A missense_variant P538H 1613C>A STAD-US 17 19237382 19237382 single base substitution C T downstream_gene_variant STAD-US 17 19237382 19237382 single base substitution C T intron_variant STAD-US 17 19237382 19237382 single base substitution C T missense_variant P289S 865C>T STAD-US 17 19237382 19237382 single base substitution C T missense_variant P296S 886C>T STAD-US 17 19237382 19237382 single base substitution C T missense_variant P517S 1549C>T STAD-US 17 19237382 19237382 single base substitution C T missense_variant P524S 1570C>T STAD-US 17 19237382 19237382 single base substitution C T missense_variant P581S 1741C>T THCA-SA 17 19186967 19186967 single base substitution A C downstream_gene_variant THCA-SA 17 19186967 19186967 single base substitution A C exon_variant THCA-SA 17 19186967 19186967 single base substitution A C intron_variant THCA-SA 17 19186967 19186967 single base substitution A C missense_variant T179P 535A>C UCEC-US 17 19186489 19186489 single base substitution G T downstream_gene_variant UCEC-US 17 19186489 19186489 single base substitution G T exon_variant UCEC-US 17 19186489 19186489 single base substitution G T intron_variant UCEC-US 17 19186489 19186489 single base substitution G T missense_variant E19D 57G>T UCEC-US 17 19186619 19186619 single base substitution C T downstream_gene_variant UCEC-US 17 19186619 19186619 single base substitution C T exon_variant UCEC-US 17 19186619 19186619 single base substitution C T intron_variant UCEC-US 17 19186619 19186619 single base substitution C T missense_variant R63W 187C>T UCEC-US 17 19186619 19186619 single base substitution C T synonymous_variant ?63 UCEC-US 17 19186656 19186656 single base substitution A G downstream_gene_variant UCEC-US 17 19186656 19186656 single base substitution A G exon_variant UCEC-US 17 19186656 19186656 single base substitution A G intron_variant UCEC-US 17 19186656 19186656 single base substitution A G missense_variant Y75C 224A>G UCEC-US 17 19213209 19213209 single base substitution C T 5_prime_UTR_variant UCEC-US 17 19213209 19213209 single base substitution C T exon_variant UCEC-US 17 19213209 19213209 single base substitution C T stop_gained R203* 607C>T UCEC-US 17 19213209 19213209 single base substitution C T stop_gained R260* 778C>T UCEC-US 17 19213209 19213209 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_63_A COSM5851995 c.972+2T>A p.? Unknown 17:19312146-19312146 + ME009T COSM223858 c.1588G>A p.A530T Substitution - Missense 17:19332029-19332029 + ESO-114 COSM1251393 c.1825C>T p.L609L Substitution - coding silent 17:19334153-19334153 + CSCC-16-T COSM4459154 c.1114C>T p.P372S Substitution - Missense 17:19313246-19313246 + 2492700 COSM5607381 c.684C>T p.P228P Substitution - coding silent 17:19285708-19285708 + TCGA-AA-3712-01 COSM1381418 c.1341C>A p.F447L Substitution - Missense 17:19329577-19329577 + OSCC-GB_00950111 COSM417154 c.1115C>A p.P372H Substitution - Missense 17:19313247-19313247 + TCGA-CH-5739-01 COSM3672378 c.1466C>A p.P489H Substitution - Missense 17:19331907-19331907 + TCGA-AD-6889-01 COSM1381416 c.755G>A p.R252H Substitution - Missense 17:19285779-19285779 + CAL27 COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + C086 COSM4459154 c.1114C>T p.P372S Substitution - Missense 17:19313246-19313246 + 12T COSM110209 c.9T>C p.T3T Substitution - coding silent 17:19283128-19283128 + PCSI_0015_Pa_P_526 COSM4963236 c.1348C>G p.L450V Substitution - Missense 17:19329584-19329584 + LIM1215 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + TCGA-HT-A61A-01 COSM4420324 c.832C>G p.L278V Substitution - Missense 17:19309950-19309950 + SNU-C4 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + CHC1182T COSM4788682 c.1713A>T p.P571P Substitution - coding silent 17:19334041-19334041 + TCGA-BR-8680-01 COSM4064598 c.347G>A p.G116D Substitution - Missense 17:19283466-19283466 + TCGA-EW-A1J5-01 COSM1479321 c.916C>T p.Q306* Substitution - Nonsense 17:19312088-19312088 + TCGA-BP-5199-01 COSM472402 c.18C>A p.I6I Substitution - coding silent 17:19283137-19283137 + PTC_169 COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + CSCC-31-T COSM4466870 c.1458C>T p.S486S Substitution - coding silent 17:19331899-19331899 + TCGA-B0-4824-01 COSM3362020 c.1333G>T p.E445* Substitution - Nonsense 17:19329569-19329569 + TCGA-BR-4361-01 COSM4064596 c.117G>A p.L39L Substitution - coding silent 17:19283236-19283236 + CSCC-60-T COSM4523014 c.1193G>A p.G398E Substitution - Missense 17:19328756-19328756 + 587278 COSM1205539 c.1282G>A p.A428T Substitution - Missense 17:19328845-19328845 + PTC-515C COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + 587284 COSM1205540 c.304G>A p.A102T Substitution - Missense 17:19283423-19283423 + TCGA-DD-A11A-01 COSM4940445 c.724G>T p.D242Y Substitution - Missense 17:19285748-19285748 + PDA_015 COSM4998808 c.1093C>A p.P365T Substitution - Missense 17:19313225-19313225 + HCC078T COSM5806315 c.896G>A p.R299Q Substitution - Missense 17:19312068-19312068 + 2492703 COSM5716435 c.552G>A p.Q184Q Substitution - coding silent 17:19283671-19283671 + TCGA-G4-6586-01 COSM308657 c.1400_1401insA p.T470fs*19 Insertion - Frameshift 17:19329636-19329637 + T3064 COSM4681410 c.1682C>T p.P561L Substitution - Missense 17:19334010-19334010 + TCGA-A2-A0T0-01 COSM436172 c.1436_1457del22 p.Q480fs*9 Deletion - Frameshift LS411 COSM308657 c.1400_1401insA p.T470fs*19 Insertion - Frameshift 17:19329636-19329637 + CHC1182T COSM4788682 c.1713A>T p.P571P Substitution - coding silent 17:19334041-19334041 + Au9 COSM5607381 c.684C>T p.P228P Substitution - coding silent 17:19285708-19285708 + CSCC-54-T COSM4515782 c.1301_1302CC>TT p.T434I Substitution - Missense 17:19328864-19328865 + 06-P2007 COSM4579507 c.593G>T p.G198V Substitution - Missense 17:19283712-19283712 + T3535 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + sysucc-1370T COSM5470626 c.1550C>T p.A517V Substitution - Missense 17:19331991-19331991 + T3202 COSM4681407 c.371G>A p.R124H Substitution - Missense 17:19283490-19283490 + TCGA-AP-A059-01 COSM976377 c.57G>T p.E19D Substitution - Missense 17:19283176-19283176 + TCGA-EE-A29D-06 COSM3515023 c.966G>A p.K322K Substitution - coding silent 17:19312138-19312138 + CRC-02T COSM5454520 c.887G>A p.R296H Substitution - Missense 17:19312059-19312059 + TCGA-EE-A2GR-06 COSM3515025 c.1648C>T p.P550S Substitution - Missense 17:19333976-19333976 + T613 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + TCGA-BR-8686-01 COSM4064601 c.1491C>T p.V497V Substitution - coding silent 17:19331932-19331932 + TCGA-EJ-5515-01 COSM1128801 c.1549G>A p.A517T Substitution - Missense 17:19331990-19331990 + CHEWS008 COSM1381421 c.1833A>G p.P611P Substitution - coding silent 17:19334161-19334161 + Pat_04_A COSM5851996 c.1634C>T p.P545L Substitution - Missense 17:19333962-19333962 + YUGURT COSM5385836 c.1821C>T p.S607S Substitution - coding silent 17:19334149-19334149 + TCGA-BR-8487-01 COSM4064597 c.123C>T p.T41T Substitution - coding silent 17:19283242-19283242 + CSCC-41-T COSM4516194 c.1675_1676CC>TT p.P559F Substitution - Missense 17:19334003-19334004 + 8068597 COSM4407572 c.527A>C p.N176T Substitution - Missense 17:19283646-19283646 + TCGA-AA-3663-01 COSM1381420 c.1460C>A p.P487H Substitution - Missense 17:19331901-19331901 + CHC892T COSM4798283 c.1869G>A p.V623V Substitution - coding silent 17:19334197-19334197 + TCGA-AA-A00R-01 COSM298972 c.959_960insA p.K323fs*39 Insertion - Frameshift 17:19312131-19312132 + SNU-C2B COSM4651289 c.1480C>T p.P494S Substitution - Missense 17:19331921-19331921 + 2492702 COSM5716435 c.552G>A p.Q184Q Substitution - coding silent 17:19283671-19283671 + CSCC-10-T COSM4565155 c.1788_1789GG>AA p.A597T Substitution - Missense 17:19334116-19334117 + 27 COSM5748837 c.478G>A p.G160S Substitution - Missense 17:19283597-19283597 + ESCC_170 COSM5649268 c.980C>G p.S327C Substitution - Missense 17:19313112-19313112 + T3090 COSM4681408 c.1283C>T p.A428V Substitution - Missense 17:19328846-19328846 + PT46 COSM5929727 c.1433C>T p.P478L Substitution - Missense 17:19331874-19331874 + T3094 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + CLL018 COSM1290643 c.1221C>T p.N407N Substitution - coding silent 17:19328784-19328784 + KM12 COSM1679640 c.212G>A p.W71* Substitution - Nonsense 17:19283331-19283331 + BCM269T COSM4949297 c.140C>T p.T47I Substitution - Missense 17:19283259-19283259 + TCGA-AY-4070-01 COSM301256 c.1787C>T p.A596V Substitution - Missense 17:19334115-19334115 + 2292384 COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + 1517_PT COSM5754993 c.1519delA p.T508fs*13 Deletion - Frameshift 17:19331960-19331960 + TCGA-ER-A198-06 COSM3515022 c.412G>A p.E138K Substitution - Missense 17:19283531-19283531 + TCGA-BP-4963-01 COSM472404 c.285G>A p.Q95Q Substitution - coding silent 17:19283404-19283404 + H1155 COSM1195499 c.268G>A p.E90K Substitution - Missense 17:19283387-19283387 + pfg181T COSM4750747 c.938G>A p.R313Q Substitution - Missense 17:19312110-19312110 + LUAD-RT-S01721 COSM380417 c.998C>T p.T333M Substitution - Missense 17:19313130-19313130 + pfg143T COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + S00936 COSM308657 c.1400_1401insA p.T470fs*19 Insertion - Frameshift 17:19329636-19329637 + SW48 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + TCGA-D1-A17H-01 COSM976379 c.224A>G p.Y75C Substitution - Missense 17:19283343-19283343 + Pat_14_B COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + 49M COSM2797969 c.11C>T p.S4L Substitution - Missense 17:19283130-19283130 + 06-P2007 COSM4579508 c.594C>T p.G198G Substitution - coding silent 17:19283713-19283713 + HCC13T COSM1609931 c.458G>T p.R153L Substitution - Missense 17:19283577-19283577 + TCGA-EE-A2MR-06 COSM3515021 c.327C>T p.F109F Substitution - coding silent 17:19283446-19283446 + LUAD-S01306 COSM343486 c.693G>T p.P231P Substitution - coding silent 17:19285717-19285717 + T2932 COSM4681409 c.1312G>A p.V438M Substitution - Missense 17:19328875-19328875 + S02287 COSM5685623 c.23delG p.Q9fs*2 Deletion - Frameshift 17:19283142-19283142 + OSCC-GB_00820111 COSM4887308 c.1367A>G p.D456G Substitution - Missense 17:19329603-19329603 + WSU-HN13 COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + LUAD-S01357 COSM386785 c.451A>G p.K151E Substitution - Missense 17:19283570-19283570 + Pat_65_A COSM5851994 c.431G>A p.R144K Substitution - Missense 17:19283550-19283550 + D-10 COSM4766708 c.808C>A p.P270T Substitution - Missense 17:19309926-19309926 + CSCC-20-T COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + TCGA-B8-5164-01 COSM472403 c.53C>T p.S18L Substitution - Missense 17:19283172-19283172 + 2492702 COSM5607381 c.684C>T p.P228P Substitution - coding silent 17:19285708-19285708 + Gp5D COSM2797986 c.1214C>T p.P405L Substitution - Missense 17:19328777-19328777 + LIM2551 COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + YUKLAB COSM1709997 c.1757A>G p.E586G Substitution - Missense 17:19334085-19334085 + TCGA-CG-5723-01 COSM4064602 c.1613C>A p.P538H Substitution - Missense 17:19332054-19332054 + TCGA-BR-6452-01 COSM4064603 c.1741C>T p.P581S Substitution - Missense 17:19334069-19334069 + Gp2D COSM2797986 c.1214C>T p.P405L Substitution - Missense 17:19328777-19328777 + PD4075a COSM160810 c.806G>C p.R269P Substitution - Missense 17:19309924-19309924 + OSCC-GB_00620111 COSM4881467 c.1589C>A p.A530D Substitution - Missense 17:19332030-19332030 + HCC13 COSM1609931 c.458G>T p.R153L Substitution - Missense 17:19283577-19283577 + TCGA-FS-A1ZA-06 COSM3515024 c.995C>T p.T332I Substitution - Missense 17:19313127-19313127 + 2492703 COSM5607381 c.684C>T p.P228P Substitution - coding silent 17:19285708-19285708 + TCGA-BS-A0UV-01 COSM976378 c.187C>T p.R63W Substitution - Missense 17:19283306-19283306 + 3206A7_009_T COSM5041642 c.77A>T p.E26V Substitution - Missense 17:19283196-19283196 + RK261_C01 COSM4778666 c.16A>G p.I6V Substitution - Missense 17:19283135-19283135 + CSCC-11-T COSM4458623 c.1093C>T p.P365S Substitution - Missense 17:19313225-19313225 + TCGA-BR-6566-01 COSM4064600 c.1185G>A p.V395V Substitution - coding silent 17:19328748-19328748 + BD57T COSM2797985 c.1200C>T p.T400T Substitution - coding silent 17:19328763-19328763 + TCGA-AP-A0LM-01 COSM976380 c.778C>T p.R260* Substitution - Nonsense 17:19309896-19309896 + pfg073T COSM4750746 c.692C>T p.P231L Substitution - Missense 17:19285716-19285716 + TARGET-30-PASTKC COSM1284762 c.1617C>A p.F539L Substitution - Missense 17:19332058-19332058 + TCGA-GD-A3OP-01 COSM1302481 c.330G>C p.Q110H Substitution - Missense 17:19283449-19283449 + 1517_CLM COSM5754993 c.1519delA p.T508fs*13 Deletion - Frameshift 17:19331960-19331960 + pfg016T COSM1381419 c.1401delA p.T470fs*5 Deletion - Frameshift 17:19329637-19329637 + TCGA-D3-A1Q5-06 COSM3515020 c.192G>A p.L64L Substitution - coding silent 17:19283311-19283311 + SCC-25 COSM4129675 c.535A>C p.T179P Substitution - Missense 17:19283654-19283654 + TCGA-60-2698-01 COSM705958 c.1376C>T p.S459F Substitution - Missense 17:19329612-19329612 + TCGA-HJ-7597-01 COSM4064599 c.370C>T p.R124C Substitution - Missense 17:19283489-19283489 + TCGA-CM-6166-01 COSM1381415 c.596C>T p.S199L Substitution - Missense 17:19285620-19285620 + BCM269T COSM4949297 c.140C>T p.T47I Substitution - Missense 17:19283259-19283259 + CHC892T COSM4798283 c.1869G>A p.V623V Substitution - coding silent 17:19334197-19334197 + TCGA-EE-A29V-06 COSM3515026 c.1662C>T p.F554F Substitution - coding silent 17:19333990-19333990 + YULONE COSM5385835 c.1686G>A p.L562L Substitution - coding silent 17:19334014-19334014 + TCGA-BT-A20Q-01 COSM417154 c.1115C>A p.P372H Substitution - Missense 17:19313247-19313247 + pfg103T COSM4750748 c.1702C>T p.R568W Substitution - Missense 17:19334030-19334030 + LP6005500-DNA_C01 COSM5952292 c.648G>A p.Q216Q Substitution - coding silent 17:19285672-19285672 + TCGA-RA-A741-01 COSM4818865 c.39C>T p.I13I Substitution - coding silent 17:19283158-19283158 + 2492701 COSM5716435 c.552G>A p.Q184Q Substitution - coding silent 17:19283671-19283671 + TCGA-G2-A3VY-01 COSM3795343 c.1477C>G p.Q493E Substitution - Missense 17:19331918-19331918 + 14_T COSM3958089 c.1764G>A p.M588I Substitution - Missense 17:19334092-19334092 + PT13 COSM5896310 c.1504C>T p.P502S Substitution - Missense 17:19331945-19331945 + 2492700 COSM5716435 c.552G>A p.Q184Q Substitution - coding silent 17:19283671-19283671 + 2492701 COSM5607381 c.684C>T p.P228P Substitution - coding silent 17:19285708-19285708 + KM12 COSM2797985 c.1200C>T p.T400T Substitution - coding silent 17:19328763-19328763 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.309467 17p11.2 607263

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC - IntronicDeletion . c.766+11376_766+11377delCA 17 19200478 STAD - A Frameshift p.K323Efs*39 c.965dupA 17 19215445 COREAD - A Frameshift p.T470Nfs*19 c.1408dupA 17 19232950 HNSC - A Frameshift p.T470Nfs*19 c.1408dupA 17 19232951 SCLC A - Frameshift p.T470Qfs*5 c.1408delA 17 19232950 STAD A G Missense p.Y75C c.224A>G 17 19186656 UCEC C A Missense p.F539L c.1617C>A 17 19235371 NB C A Missense p.P372H c.1115C>A 17 19216560 BLCA C A Synonymous p.R313R c.937C>A 17 19215422 CM CCCAAAACAATGGAACTACCAG - Frameshift p.Q480Lfs*9 c.1439_1460delAAAACAATGGAACTACCAGCCC 17 19235190 BRCA C - Frameshift p.A347Rfs*104 c.1038delC 17 19216480 LUAD C - Frameshift p.N637Tfs*81 c.1908delC 17 19237548 PRAD C T 5-UTRSNV . c.1-64C>T 17 19186369 CM C T Missense p.A596V c.1787C>T 17 19237428 COREAD C T Missense p.P550S c.1648C>T 17 19237289 CM C T Missense p.R209C c.625C>T 17 19188962 HNSC C T Missense p.S18L c.53C>T 17 19186485 RCCC C T Missense p.T332I c.995C>T 17 19216440 CM C T Missense p.T79I c.236C>T 17 19186668 CM C T Synonymous p.F554F c.1662C>T 17 19237303 CM C T Synonymous p.L609L c.1825C>T 17 19237466 ESCA C T Synonymous p.N407N c.1221C>T 17 19232097 CLL G A IntronicSNV . c.766+4368G>A 17 19193471 CLL G A Missense p.A517T c.1549G>A 17 19235303 PRAD G A Missense p.A530T c.1588G>A 17 19235342 CM G A Missense p.E138K c.412G>A 17 19186844 CM G A Missense p.R288K c.863G>A 17 19213294 CM G A Synonymous p.L64L c.192G>A 17 19186624 CM G A Synonymous p.Q95Q c.285G>A 17 19186717 RCCC G C Missense p.Q110H c.330G>C 17 19186762 BLCA G C Missense p.R269P c.806G>C 17 19213237 BRCA G T Missense p.G394W c.1180G>T 17 19232056 LUAD G T Missense p.M338I c.1014G>T 17 19216459 LUAD G T Nonsense p.E445* c.1333G>T 17 19232882 RCCC G T Synonymous p.V131V c.393G>T 17 19186825 LUAD T A Missense p.S258T c.772T>A 17 19213203 LUAD