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 ACC 17 49354664 49354664 + Splice_Site SNP A A T TCGA-OR-A5JY-01A-31D-A29I-10 TCGA-OR-A5JY-10A-01D-A29L-10 g.chr17:49354664A>T c.1011A>T c.(1009-1011)agA>agT p.R337S BLCA 17 49337968 49337968 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr17:49337968G>A c.23G>A c.(22-24)cGa>cAa p.R8Q BLCA 17 49340655 49340655 + Silent SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr17:49340655G>C c.363G>C c.(361-363)tcG>tcC p.S121S BLCA 17 49340655 49340655 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr17:49340655G>C c.363G>C c.(361-363)tcG>tcC p.S121S BLCA 17 49343619 49343619 + Missense_Mutation SNP C C G TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr17:49343619C>G c.532C>G c.(532-534)Ctt>Gtt p.L178V BLCA 17 49357465 49357465 + Splice_Site SNP A A C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr17:49357465A>C c.1112A>C c.(1111-1113)aAg>aCg p.K371T BLCA 17 49365435 49365435 + Silent SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:49365435C>T c.1374C>T c.(1372-1374)ctC>ctT p.L458L BLCA 17 49371317 49371317 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:49371317G>A c.1557G>A c.(1555-1557)aaG>aaA p.K519K BLCA 17 49371351 49371351 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:49371351C>G c.1591C>G c.(1591-1593)Ccg>Gcg p.P531A BLCA 17 49374340 49374340 + Nonsense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr17:49374340C>G c.1661C>G c.(1660-1662)tCa>tGa p.S554* BLCA 17 49374347 49374347 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:49374347C>G c.1668C>G c.(1666-1668)ttC>ttG p.F556L BRCA 17 49346251 49346251 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:49346251A>C c.608A>C c.(607-609)aAa>aCa p.K203T COAD 17 49338178 49338178 + Missense_Mutation SNP T T G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:49338178T>G c.233T>G c.(232-234)cTg>cGg p.L78R COAD 17 49338213 49338213 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:49338213T>C c.268T>C c.(268-270)Tgc>Cgc p.C90R COAD 17 49343568 49343568 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:49343568C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W COADREAD 17 49338178 49338178 + Missense_Mutation SNP T T G TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr17:49338178T>G c.233T>G c.(232-234)cTg>cGg p.L78R COADREAD 17 49338213 49338213 + Missense_Mutation SNP T T C TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:49338213T>C c.268T>C c.(268-270)Tgc>Cgc p.C90R COADREAD 17 49343568 49343568 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:49343568C>T c.481C>T c.(481-483)Cgg>Tgg p.R161W ESCA 17 49338044 49338044 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:49338044delG c.99delG c.(97-99)gcgfs p.A33fs ESCA 17 49354628 49354628 + Missense_Mutation SNP G G A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr17:49354628G>A c.975G>A c.(973-975)atG>atA p.M325I GBMLGG 17 49365522 49365522 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:49365522C>A c.1461C>A c.(1459-1461)atC>atA p.I487I GBMLGG 17 49371388 49371388 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr17:49371388G>A c.1628G>A c.(1627-1629)gGc>gAc p.G543D HNSC 17 49353297 49353297 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr17:49353297C>A c.782C>A c.(781-783)cCc>cAc p.P261H HNSC 17 49365466 49365466 + Missense_Mutation SNP A A G TCGA-CX-A4AQ-01A-11D-A25D-08 TCGA-CX-A4AQ-10A-01D-A25E-08 g.chr17:49365466A>G c.1405A>G c.(1405-1407)Ata>Gta p.I469V HNSC 17 49371299 49371299 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:49371299C>T c.1539C>T c.(1537-1539)ttC>ttT p.F513F KIPAN 17 49353345 49353345 + Missense_Mutation SNP T T A TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr17:49353345T>A c.830T>A c.(829-831)cTa>cAa p.L277Q KIPAN 17 49357809 49357809 + Silent SNP T T C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr17:49357809T>C c.1173T>C c.(1171-1173)tcT>tcC p.S391S KIRC 17 49353345 49353345 + Missense_Mutation SNP T T A TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr17:49353345T>A c.830T>A c.(829-831)cTa>cAa p.L277Q KIRP 17 49357809 49357809 + Silent SNP T T C TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr17:49357809T>C c.1173T>C c.(1171-1173)tcT>tcC p.S391S LGG 17 49365522 49365522 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:49365522C>A c.1461C>A c.(1459-1461)atC>atA p.I487I LGG 17 49371388 49371388 + Missense_Mutation SNP G G A TCGA-DU-6410-01A-11D-1893-08 TCGA-DU-6410-10A-01D-1893-08 g.chr17:49371388G>A c.1628G>A c.(1627-1629)gGc>gAc p.G543D LUAD 17 49340701 49340701 + Missense_Mutation SNP C C G TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr17:49340701C>G c.409C>G c.(409-411)Caa>Gaa p.Q137E LUAD 17 49350801 49350801 + Missense_Mutation SNP G G A TCGA-62-A46S-01A-11D-A24D-08 TCGA-62-A46S-10A-01D-A24F-08 g.chr17:49350801G>A c.701G>A c.(700-702)gGa>gAa p.G234E LUAD 17 49353256 49353256 + Missense_Mutation SNP A A T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr17:49353256A>T c.741A>T c.(739-741)gaA>gaT p.E247D LUAD 17 49362671 49362671 + Missense_Mutation SNP G G T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr17:49362671G>T c.1270G>T c.(1270-1272)Ggc>Tgc p.G424C LUAD 17 49371270 49371270 + Missense_Mutation SNP C C G TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 g.chr17:49371270C>G c.1510C>G c.(1510-1512)Ctt>Gtt p.L504V LUSC 17 49337958 49337958 + Silent SNP C C A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr17:49337958C>A c.13C>A c.(13-15)Cgg>Agg p.R5R PAAD 17 49353296 49353296 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr17:49353296C>A c.781C>A c.(781-783)Ccc>Acc p.P261T SKCM 17 49353297 49353297 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:49353297C>T c.782C>T c.(781-783)cCc>cTc p.P261L SKCM 17 49371371 49371371 + Silent SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr17:49371371C>T c.1611C>T c.(1609-1611)gcC>gcT p.A537A SKCM 17 49374332 49374332 + Silent SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr17:49374332C>T c.1653C>T c.(1651-1653)caC>caT p.H551H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 49357370 49357370 single base substitution G C exon_variant BLCA-CN 17 49357370 49357370 single base substitution G C missense_variant L339F 1017G>C BLCA-CN 17 49357370 49357370 single base substitution G C missense_variant L49F 147G>C BLCA-CN 17 49357370 49357370 single base substitution G C upstream_gene_variant BLCA-US 17 49337968 49337968 single base substitution G A missense_variant R8Q 23G>A BLCA-US 17 49340655 49340655 single base substitution G C synonymous_variant S121S 363G>C BLCA-US 17 49357465 49357465 single base substitution A C missense_variant K371T 1112A>C BLCA-US 17 49357465 49357465 single base substitution A C missense_variant K81T 242A>C BLCA-US 17 49357465 49357465 single base substitution A C splice_region_variant BLCA-US 17 49357465 49357465 single base substitution A C upstream_gene_variant BLCA-US 17 49374347 49374347 single base substitution C G 3_prime_UTR_variant BLCA-US 17 49374347 49374347 single base substitution C G exon_variant BLCA-US 17 49374347 49374347 single base substitution C G missense_variant F556L 1668C>G BLCA-US 17 49374347 49374347 single base substitution C G missense_variant L100V 298C>G BRCA-EU 17 49335501 49335501 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 49335706 49335706 single base substitution G C upstream_gene_variant BRCA-EU 17 49336359 49336359 single base substitution A T upstream_gene_variant BRCA-EU 17 49336600 49336600 single base substitution G T upstream_gene_variant BRCA-EU 17 49339210 49339210 single base substitution C A intron_variant BRCA-EU 17 49339300 49339300 single base substitution C A intron_variant BRCA-EU 17 49339552 49339552 single base substitution C G intron_variant BRCA-EU 17 49341085 49341085 single base substitution A G intron_variant BRCA-EU 17 49341596 49341596 single base substitution C T intron_variant BRCA-EU 17 49343148 49343148 single base substitution C G intron_variant BRCA-EU 17 49343202 49343202 single base substitution C T intron_variant BRCA-EU 17 49343321 49343321 single base substitution C A intron_variant BRCA-EU 17 49343648 49343648 single base substitution G A splice_region_variant BRCA-EU 17 49343711 49343711 single base substitution G A intron_variant BRCA-EU 17 49343821 49343821 single base substitution G A intron_variant BRCA-EU 17 49344448 49344448 single base substitution C T intron_variant BRCA-EU 17 49344878 49344878 single base substitution T A intron_variant BRCA-EU 17 49345016 49345016 single base substitution G T intron_variant BRCA-EU 17 49345179 49345179 single base substitution C T intron_variant BRCA-EU 17 49345305 49345305 single base substitution C G intron_variant BRCA-EU 17 49346481 49346481 single base substitution C G intron_variant BRCA-EU 17 49348118 49348118 single base substitution C T intron_variant BRCA-EU 17 49348847 49348847 single base substitution T A intron_variant BRCA-EU 17 49348847 49348847 single base substitution T A upstream_gene_variant BRCA-EU 17 49348943 49348943 single base substitution T G intron_variant BRCA-EU 17 49348943 49348943 single base substitution T G upstream_gene_variant BRCA-EU 17 49349115 49349115 single base substitution G A intron_variant BRCA-EU 17 49349115 49349115 single base substitution G A upstream_gene_variant BRCA-EU 17 49351507 49351507 single base substitution C A intron_variant BRCA-EU 17 49351507 49351507 single base substitution C A upstream_gene_variant BRCA-EU 17 49351518 49351518 single base substitution A G intron_variant BRCA-EU 17 49351518 49351518 single base substitution A G upstream_gene_variant BRCA-EU 17 49351814 49351814 insertion of <=200bp - T intron_variant BRCA-EU 17 49351814 49351814 insertion of <=200bp - T upstream_gene_variant BRCA-EU 17 49352161 49352161 deletion of <=200bp C - intron_variant BRCA-EU 17 49352161 49352161 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 49352390 49352390 single base substitution C G intron_variant BRCA-EU 17 49352390 49352390 single base substitution C G upstream_gene_variant BRCA-EU 17 49353987 49353987 single base substitution G A intron_variant BRCA-EU 17 49353987 49353987 single base substitution G A upstream_gene_variant BRCA-EU 17 49354236 49354236 single base substitution C T intron_variant BRCA-EU 17 49354236 49354236 single base substitution C T upstream_gene_variant BRCA-EU 17 49358003 49358003 single base substitution G A intron_variant BRCA-EU 17 49358003 49358003 single base substitution G A upstream_gene_variant BRCA-EU 17 49360033 49360033 single base substitution A G intron_variant BRCA-EU 17 49360033 49360033 single base substitution A G upstream_gene_variant BRCA-EU 17 49361290 49361290 single base substitution T G intron_variant BRCA-EU 17 49361290 49361290 single base substitution T G upstream_gene_variant BRCA-EU 17 49363175 49363175 single base substitution A G intron_variant BRCA-EU 17 49363747 49363747 single base substitution G C intron_variant BRCA-EU 17 49363841 49363841 single base substitution C T intron_variant BRCA-EU 17 49363841 49363841 single base substitution C T splice_region_variant BRCA-EU 17 49364571 49364571 single base substitution C T intron_variant BRCA-EU 17 49366932 49366932 single base substitution C G downstream_gene_variant BRCA-EU 17 49366932 49366932 single base substitution C G intron_variant BRCA-EU 17 49367841 49367841 single base substitution A G downstream_gene_variant BRCA-EU 17 49367841 49367841 single base substitution A G intron_variant BRCA-EU 17 49368628 49368628 single base substitution G C downstream_gene_variant BRCA-EU 17 49368628 49368628 single base substitution G C intron_variant BRCA-EU 17 49368628 49368628 single base substitution G C upstream_gene_variant BRCA-EU 17 49369083 49369083 single base substitution G C downstream_gene_variant BRCA-EU 17 49369083 49369083 single base substitution G C intron_variant BRCA-EU 17 49369083 49369083 single base substitution G C upstream_gene_variant BRCA-EU 17 49370123 49370123 single base substitution C G downstream_gene_variant BRCA-EU 17 49370123 49370123 single base substitution C G intron_variant BRCA-EU 17 49370123 49370123 single base substitution C G upstream_gene_variant BRCA-EU 17 49370405 49370405 single base substitution G A downstream_gene_variant BRCA-EU 17 49370405 49370405 single base substitution G A intron_variant BRCA-EU 17 49370405 49370405 single base substitution G A upstream_gene_variant BRCA-EU 17 49370781 49370781 single base substitution C T intron_variant BRCA-EU 17 49370781 49370781 single base substitution C T upstream_gene_variant BRCA-EU 17 49371714 49371714 single base substitution C T intron_variant BRCA-EU 17 49371714 49371714 single base substitution C T upstream_gene_variant BRCA-EU 17 49373512 49373512 single base substitution C T intron_variant BRCA-EU 17 49373512 49373512 single base substitution C T upstream_gene_variant BRCA-EU 17 49374766 49374766 single base substitution C A intron_variant BRCA-EU 17 49375424 49375424 single base substitution C T downstream_gene_variant BRCA-EU 17 49376206 49376206 single base substitution G A downstream_gene_variant BRCA-EU 17 49376317 49376317 single base substitution C G downstream_gene_variant BRCA-EU 17 49376763 49376763 single base substitution C A downstream_gene_variant BRCA-EU 17 49377106 49377106 single base substitution T C downstream_gene_variant BRCA-EU 17 49379662 49379662 single base substitution C G downstream_gene_variant BRCA-EU 17 49379706 49379707 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 17 49379941 49379941 single base substitution C G downstream_gene_variant BRCA-EU 17 49380147 49380147 single base substitution C G downstream_gene_variant BRCA-EU 17 49380215 49380215 single base substitution G C downstream_gene_variant BRCA-FR 17 49341085 49341085 single base substitution A G intron_variant BRCA-FR 17 49346481 49346481 single base substitution C G intron_variant BRCA-FR 17 49352390 49352390 single base substitution C G intron_variant BRCA-FR 17 49352390 49352390 single base substitution C G upstream_gene_variant BRCA-FR 17 49354236 49354236 single base substitution C T intron_variant BRCA-FR 17 49354236 49354236 single base substitution C T upstream_gene_variant BRCA-FR 17 49361186 49361186 single base substitution G A intron_variant BRCA-FR 17 49361186 49361186 single base substitution G A upstream_gene_variant BRCA-FR 17 49364571 49364571 single base substitution C T intron_variant BRCA-FR 17 49366932 49366932 single base substitution C G downstream_gene_variant BRCA-FR 17 49366932 49366932 single base substitution C G intron_variant BRCA-FR 17 49374880 49374880 single base substitution A G intron_variant BRCA-FR 17 49375424 49375424 single base substitution C T downstream_gene_variant BRCA-FR 17 49376206 49376206 single base substitution G A downstream_gene_variant BRCA-FR 17 49380215 49380215 single base substitution G C downstream_gene_variant BRCA-UK 17 49332916 49332916 single base substitution C G upstream_gene_variant BRCA-UK 17 49340655 49340655 single base substitution G C synonymous_variant S121S 363G>C BRCA-UK 17 49346953 49346953 single base substitution C A intron_variant BRCA-UK 17 49354509 49354509 single base substitution C T intron_variant BRCA-UK 17 49354509 49354509 single base substitution C T missense_variant P286S 856C>T BRCA-UK 17 49354509 49354509 single base substitution C T upstream_gene_variant BRCA-UK 17 49363841 49363841 single base substitution C T intron_variant BRCA-UK 17 49363841 49363841 single base substitution C T splice_region_variant BRCA-US 17 49346251 49346251 single base substitution A C missense_variant K203T 608A>C BTCA-JP 17 49338255 49338255 single base substitution G A missense_variant D104N 310G>A BTCA-JP 17 49350972 49350972 single base substitution C T intron_variant BTCA-JP 17 49350972 49350972 single base substitution C T upstream_gene_variant BTCA-JP 17 49350974 49350974 single base substitution T C intron_variant BTCA-JP 17 49350974 49350974 single base substitution T C upstream_gene_variant BTCA-JP 17 49357669 49357669 single base substitution A G intron_variant BTCA-JP 17 49357669 49357669 single base substitution A G upstream_gene_variant BTCA-JP 17 49357806 49357806 single base substitution C G 3_prime_UTR_variant BTCA-JP 17 49357806 49357806 single base substitution C G exon_variant BTCA-JP 17 49357806 49357806 single base substitution C G missense_variant F100L 300C>G BTCA-JP 17 49357806 49357806 single base substitution C G missense_variant F390L 1170C>G BTCA-JP 17 49357806 49357806 single base substitution C G upstream_gene_variant BTCA-JP 17 49362715 49362715 single base substitution G C 3_prime_UTR_variant BTCA-JP 17 49362715 49362715 single base substitution G C exon_variant BTCA-JP 17 49362715 49362715 single base substitution G C missense_variant Q148H 444G>C BTCA-JP 17 49362715 49362715 single base substitution G C missense_variant Q29H 87G>C BTCA-JP 17 49362715 49362715 single base substitution G C missense_variant Q438H 1314G>C BTCA-JP 17 49362715 49362715 single base substitution G C missense_variant Q46H 138G>C CLLE-ES 17 49337573 49337573 single base substitution T C upstream_gene_variant CLLE-ES 17 49349483 49349483 single base substitution A G intron_variant CLLE-ES 17 49349483 49349483 single base substitution A G upstream_gene_variant CLLE-ES 17 49362953 49362958 deletion of <=200bp GTTTTA - intron_variant CLLE-ES 17 49363678 49363678 single base substitution A T intron_variant CLLE-ES 17 49371276 49371276 single base substitution T C exon_variant CLLE-ES 17 49371276 49371276 single base substitution T C intron_variant CLLE-ES 17 49371276 49371276 single base substitution T C missense_variant S506P 1516T>C CLLE-ES 17 49371276 49371276 single base substitution T C upstream_gene_variant COAD-US 17 49338178 49338178 single base substitution T G missense_variant L78R 233T>G COAD-US 17 49338257 49338257 single base substitution C T synonymous_variant D104D 312C>T COAD-US 17 49338275 49338275 single base substitution G A synonymous_variant L110L 330G>A COAD-US 17 49343568 49343568 single base substitution C T missense_variant R161W 481C>T COAD-US 17 49350802 49350802 single base substitution A C synonymous_variant G234G 702A>C COAD-US 17 49350802 49350802 single base substitution A C upstream_gene_variant COCA-CN 17 49353244 49353244 single base substitution T G exon_variant COCA-CN 17 49353244 49353244 single base substitution T G missense_variant H243Q 729T>G COCA-CN 17 49353244 49353244 single base substitution T G upstream_gene_variant COCA-CN 17 49362592 49362592 single base substitution G A intron_variant COCA-CN 17 49362592 49362592 single base substitution G A upstream_gene_variant COCA-CN 17 49362655 49362655 single base substitution C G 3_prime_UTR_variant COCA-CN 17 49362655 49362655 single base substitution C G exon_variant COCA-CN 17 49362655 49362655 single base substitution C G missense_variant N128K 384C>G COCA-CN 17 49362655 49362655 single base substitution C G missense_variant N26K 78C>G COCA-CN 17 49362655 49362655 single base substitution C G missense_variant N418K 1254C>G COCA-CN 17 49362655 49362655 single base substitution C G missense_variant N9K 27C>G COCA-CN 17 49374342 49374342 single base substitution G T 3_prime_UTR_variant COCA-CN 17 49374342 49374342 single base substitution G T exon_variant COCA-CN 17 49374342 49374342 single base substitution G T missense_variant D555Y 1663G>T COCA-CN 17 49374342 49374342 single base substitution G T missense_variant R98I 293G>T ESAD-UK 17 49335754 49335754 single base substitution C T upstream_gene_variant ESAD-UK 17 49340109 49340109 single base substitution C T intron_variant ESAD-UK 17 49340906 49340906 single base substitution C T intron_variant ESAD-UK 17 49346248 49346248 single base substitution G A missense_variant R202Q 605G>A ESAD-UK 17 49346541 49346541 deletion of <=200bp G - intron_variant ESAD-UK 17 49346906 49346906 single base substitution T G intron_variant ESAD-UK 17 49351202 49351202 single base substitution C T intron_variant ESAD-UK 17 49351202 49351202 single base substitution C T upstream_gene_variant ESAD-UK 17 49354390 49354390 single base substitution G T intron_variant ESAD-UK 17 49354390 49354390 single base substitution G T upstream_gene_variant ESAD-UK 17 49355741 49355741 single base substitution A G intron_variant ESAD-UK 17 49355741 49355741 single base substitution A G upstream_gene_variant ESAD-UK 17 49356144 49356144 single base substitution C T intron_variant ESAD-UK 17 49356144 49356144 single base substitution C T upstream_gene_variant ESAD-UK 17 49357339 49357339 single base substitution A G intron_variant ESAD-UK 17 49357339 49357339 single base substitution A G upstream_gene_variant ESAD-UK 17 49358527 49358527 insertion of <=200bp - A intron_variant ESAD-UK 17 49358527 49358527 insertion of <=200bp - A upstream_gene_variant ESAD-UK 17 49358780 49358780 insertion of <=200bp - T intron_variant ESAD-UK 17 49358780 49358780 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 49361216 49361216 single base substitution G A intron_variant ESAD-UK 17 49361216 49361216 single base substitution G A upstream_gene_variant ESAD-UK 17 49362379 49362379 single base substitution G A intron_variant ESAD-UK 17 49362379 49362379 single base substitution G A upstream_gene_variant ESAD-UK 17 49363192 49363192 single base substitution G C intron_variant ESAD-UK 17 49364190 49364190 single base substitution A G intron_variant ESAD-UK 17 49364570 49364570 single base substitution T C intron_variant ESAD-UK 17 49366706 49366706 single base substitution C T downstream_gene_variant ESAD-UK 17 49366706 49366706 single base substitution C T intron_variant ESAD-UK 17 49368837 49368837 single base substitution C T downstream_gene_variant ESAD-UK 17 49368837 49368837 single base substitution C T intron_variant ESAD-UK 17 49368837 49368837 single base substitution C T upstream_gene_variant ESAD-UK 17 49369035 49369035 single base substitution A T downstream_gene_variant ESAD-UK 17 49369035 49369035 single base substitution A T intron_variant ESAD-UK 17 49369035 49369035 single base substitution A T upstream_gene_variant ESAD-UK 17 49370621 49370624 deletion of <=200bp TCTT - intron_variant ESAD-UK 17 49370621 49370624 deletion of <=200bp TCTT - upstream_gene_variant ESAD-UK 17 49370794 49370794 single base substitution C T intron_variant ESAD-UK 17 49370794 49370794 single base substitution C T upstream_gene_variant ESAD-UK 17 49375540 49375540 single base substitution T C downstream_gene_variant ESAD-UK 17 49376256 49376256 single base substitution C A downstream_gene_variant ESAD-UK 17 49377313 49377313 single base substitution G A downstream_gene_variant ESAD-UK 17 49378681 49378681 insertion of <=200bp - T downstream_gene_variant ESCA-CN 17 49337803 49337803 single base substitution G A upstream_gene_variant GACA-CN 17 49362700 49362700 single base substitution A G 3_prime_UTR_variant GACA-CN 17 49362700 49362700 single base substitution A G exon_variant GACA-CN 17 49362700 49362700 single base substitution A G synonymous_variant T143T 429A>G GACA-CN 17 49362700 49362700 single base substitution A G synonymous_variant T24T 72A>G GACA-CN 17 49362700 49362700 single base substitution A G synonymous_variant T41T 123A>G GACA-CN 17 49362700 49362700 single base substitution A G synonymous_variant T433T 1299A>G KIRC-US 17 49340732 49340732 single base substitution A G missense_variant D147G 440A>G LAML-KR 17 49342066 49342066 single base substitution G T intron_variant LAML-KR 17 49360356 49360356 single base substitution A G intron_variant LAML-KR 17 49360356 49360356 single base substitution A G upstream_gene_variant LGG-US 17 49371388 49371388 single base substitution G A 3_prime_UTR_variant LGG-US 17 49371388 49371388 single base substitution G A intron_variant LGG-US 17 49371388 49371388 single base substitution G A missense_variant G543D 1628G>A LGG-US 17 49371388 49371388 single base substitution G A upstream_gene_variant LICA-FR 17 49352120 49352120 single base substitution C T intron_variant LICA-FR 17 49352120 49352120 single base substitution C T upstream_gene_variant LINC-JP 17 49344328 49344328 single base substitution G A intron_variant LINC-JP 17 49350972 49350972 single base substitution C T intron_variant LINC-JP 17 49350972 49350972 single base substitution C T upstream_gene_variant LINC-JP 17 49351965 49351965 single base substitution G T intron_variant LINC-JP 17 49351965 49351965 single base substitution G T upstream_gene_variant LINC-JP 17 49369611 49369611 single base substitution A G downstream_gene_variant LINC-JP 17 49369611 49369611 single base substitution A G intron_variant LINC-JP 17 49369611 49369611 single base substitution A G upstream_gene_variant LINC-JP 17 49375339 49375339 single base substitution C A downstream_gene_variant LIRI-JP 17 49333233 49333233 single base substitution A G upstream_gene_variant LIRI-JP 17 49334882 49334882 single base substitution T C upstream_gene_variant LIRI-JP 17 49335637 49335637 single base substitution T C upstream_gene_variant LIRI-JP 17 49336407 49336407 single base substitution G A upstream_gene_variant LIRI-JP 17 49337944 49337944 single base substitution C A 5_prime_UTR_variant LIRI-JP 17 49341334 49341334 single base substitution T G intron_variant LIRI-JP 17 49341584 49341584 single base substitution G A intron_variant LIRI-JP 17 49341786 49341786 single base substitution A G intron_variant LIRI-JP 17 49342353 49342353 single base substitution A G intron_variant LIRI-JP 17 49345087 49345087 single base substitution A G intron_variant LIRI-JP 17 49347242 49347242 single base substitution A T intron_variant LIRI-JP 17 49347792 49347792 single base substitution G T intron_variant LIRI-JP 17 49349658 49349658 single base substitution C G intron_variant LIRI-JP 17 49349658 49349658 single base substitution C G upstream_gene_variant LIRI-JP 17 49350406 49350406 single base substitution A C intron_variant LIRI-JP 17 49350406 49350406 single base substitution A C upstream_gene_variant LIRI-JP 17 49351360 49351360 single base substitution T G intron_variant LIRI-JP 17 49351360 49351360 single base substitution T G upstream_gene_variant LIRI-JP 17 49352415 49352415 single base substitution G T intron_variant LIRI-JP 17 49352415 49352415 single base substitution G T upstream_gene_variant LIRI-JP 17 49353320 49353320 single base substitution G T exon_variant LIRI-JP 17 49353320 49353320 single base substitution G T missense_variant A269S 805G>T LIRI-JP 17 49353320 49353320 single base substitution G T upstream_gene_variant LIRI-JP 17 49353321 49353321 single base substitution C G exon_variant LIRI-JP 17 49353321 49353321 single base substitution C G missense_variant A269G 806C>G LIRI-JP 17 49353321 49353321 single base substitution C G upstream_gene_variant LIRI-JP 17 49356547 49356547 single base substitution C G intron_variant LIRI-JP 17 49356547 49356547 single base substitution C G upstream_gene_variant LIRI-JP 17 49356850 49356850 single base substitution G A intron_variant LIRI-JP 17 49356850 49356850 single base substitution G A upstream_gene_variant LIRI-JP 17 49357816 49357816 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 49357816 49357816 single base substitution A G exon_variant LIRI-JP 17 49357816 49357816 single base substitution A G missense_variant S104G 310A>G LIRI-JP 17 49357816 49357816 single base substitution A G missense_variant S2G 4A>G LIRI-JP 17 49357816 49357816 single base substitution A G missense_variant S394G 1180A>G LIRI-JP 17 49357816 49357816 single base substitution A G upstream_gene_variant LIRI-JP 17 49359155 49359155 single base substitution A G intron_variant LIRI-JP 17 49359155 49359155 single base substitution A G upstream_gene_variant LIRI-JP 17 49364100 49364100 single base substitution A G intron_variant LIRI-JP 17 49365530 49365530 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 49365530 49365530 single base substitution T C downstream_gene_variant LIRI-JP 17 49365530 49365530 single base substitution T C exon_variant LIRI-JP 17 49365530 49365530 single base substitution T C missense_variant I490T 1469T>C LIRI-JP 17 49365530 49365530 single base substitution T C missense_variant I81T 242T>C LIRI-JP 17 49365530 49365530 single base substitution T C missense_variant I98T 293T>C LIRI-JP 17 49365743 49365743 single base substitution A G downstream_gene_variant LIRI-JP 17 49365743 49365743 single base substitution A G intron_variant LIRI-JP 17 49376418 49376418 single base substitution A G downstream_gene_variant LIRI-JP 17 49376863 49376863 single base substitution G T downstream_gene_variant LIRI-JP 17 49377005 49377012 deletion of <=200bp GAACCGAA - downstream_gene_variant LIRI-JP 17 49379992 49379992 single base substitution T C downstream_gene_variant LUSC-KR 17 49333829 49333829 single base substitution T C upstream_gene_variant LUSC-KR 17 49335811 49335811 single base substitution C G upstream_gene_variant LUSC-KR 17 49337803 49337803 single base substitution G A upstream_gene_variant LUSC-KR 17 49339469 49339469 single base substitution G T intron_variant LUSC-KR 17 49341944 49341944 single base substitution A C intron_variant LUSC-KR 17 49343379 49343379 single base substitution T C intron_variant LUSC-KR 17 49363070 49363070 single base substitution A T intron_variant LUSC-KR 17 49374439 49374439 single base substitution C T intron_variant LUSC-US 17 49337958 49337958 single base substitution C A synonymous_variant R5R 13C>A MALY-DE 17 49333398 49333398 single base substitution A T upstream_gene_variant MALY-DE 17 49333824 49333824 single base substitution G A upstream_gene_variant MALY-DE 17 49339610 49339610 insertion of <=200bp - T intron_variant MALY-DE 17 49340464 49340464 single base substitution C T intron_variant MALY-DE 17 49343115 49343115 single base substitution G T intron_variant MALY-DE 17 49343695 49343695 single base substitution G C intron_variant MALY-DE 17 49347201 49347202 deletion of <=200bp TG - intron_variant MALY-DE 17 49351663 49351663 single base substitution A G intron_variant MALY-DE 17 49351663 49351663 single base substitution A G upstream_gene_variant MALY-DE 17 49362334 49362334 single base substitution A G intron_variant MALY-DE 17 49362334 49362334 single base substitution A G upstream_gene_variant MALY-DE 17 49367850 49367850 single base substitution C T downstream_gene_variant MALY-DE 17 49367850 49367850 single base substitution C T intron_variant MALY-DE 17 49370171 49370172 deletion of <=200bp TG - downstream_gene_variant MALY-DE 17 49370171 49370172 deletion of <=200bp TG - intron_variant MALY-DE 17 49370171 49370172 deletion of <=200bp TG - upstream_gene_variant MALY-DE 17 49376670 49376670 single base substitution T A downstream_gene_variant MELA-AU 17 49333764 49333764 single base substitution G A upstream_gene_variant MELA-AU 17 49334128 49334128 single base substitution G A upstream_gene_variant MELA-AU 17 49334159 49334159 single base substitution G A upstream_gene_variant MELA-AU 17 49334213 49334213 single base substitution G A upstream_gene_variant MELA-AU 17 49335360 49335360 single base substitution G A upstream_gene_variant MELA-AU 17 49337473 49337473 single base substitution C T upstream_gene_variant MELA-AU 17 49337736 49337736 single base substitution G A upstream_gene_variant MELA-AU 17 49337789 49337789 single base substitution G A upstream_gene_variant MELA-AU 17 49337806 49337806 single base substitution G A upstream_gene_variant MELA-AU 17 49338076 49338076 single base substitution C A missense_variant P44H 131C>A MELA-AU 17 49340158 49340158 single base substitution C T intron_variant MELA-AU 17 49340696 49340696 single base substitution C T missense_variant P135L 404C>T MELA-AU 17 49341324 49341324 single base substitution T C intron_variant MELA-AU 17 49341387 49341387 deletion of <=200bp C - intron_variant MELA-AU 17 49341402 49341402 single base substitution T C intron_variant MELA-AU 17 49341715 49341715 single base substitution C T intron_variant MELA-AU 17 49341800 49341800 single base substitution G A intron_variant MELA-AU 17 49342627 49342627 single base substitution C T intron_variant MELA-AU 17 49343900 49343900 single base substitution C T intron_variant MELA-AU 17 49344159 49344159 single base substitution C T intron_variant MELA-AU 17 49344430 49344430 single base substitution C T intron_variant MELA-AU 17 49346073 49346073 single base substitution T C intron_variant MELA-AU 17 49346276 49346276 single base substitution A G intron_variant MELA-AU 17 49347266 49347266 single base substitution G A intron_variant MELA-AU 17 49347394 49347394 single base substitution T G intron_variant MELA-AU 17 49347602 49347602 single base substitution C T intron_variant MELA-AU 17 49348274 49348274 single base substitution G A intron_variant MELA-AU 17 49348274 49348274 single base substitution G A upstream_gene_variant MELA-AU 17 49349000 49349000 single base substitution A G intron_variant MELA-AU 17 49349000 49349000 single base substitution A G upstream_gene_variant MELA-AU 17 49349328 49349328 single base substitution C T intron_variant MELA-AU 17 49349328 49349328 single base substitution C T upstream_gene_variant MELA-AU 17 49349810 49349810 single base substitution C T intron_variant MELA-AU 17 49349810 49349810 single base substitution C T upstream_gene_variant MELA-AU 17 49351139 49351139 single base substitution C T intron_variant MELA-AU 17 49351139 49351139 single base substitution C T upstream_gene_variant MELA-AU 17 49351170 49351170 single base substitution C T intron_variant MELA-AU 17 49351170 49351170 single base substitution C T upstream_gene_variant MELA-AU 17 49351441 49351441 single base substitution C T intron_variant MELA-AU 17 49351441 49351441 single base substitution C T upstream_gene_variant MELA-AU 17 49351966 49351966 single base substitution C T intron_variant MELA-AU 17 49351966 49351966 single base substitution C T upstream_gene_variant MELA-AU 17 49352648 49352648 single base substitution A T intron_variant MELA-AU 17 49352648 49352648 single base substitution A T upstream_gene_variant MELA-AU 17 49353907 49353907 single base substitution C T intron_variant MELA-AU 17 49353907 49353907 single base substitution C T upstream_gene_variant MELA-AU 17 49353919 49353919 single base substitution T G intron_variant MELA-AU 17 49353919 49353919 single base substitution T G upstream_gene_variant MELA-AU 17 49354510 49354510 single base substitution C T intron_variant MELA-AU 17 49354510 49354510 single base substitution C T missense_variant P286L 857C>T MELA-AU 17 49354510 49354510 single base substitution C T upstream_gene_variant MELA-AU 17 49354845 49354845 single base substitution T A intron_variant MELA-AU 17 49354845 49354845 single base substitution T A upstream_gene_variant MELA-AU 17 49355478 49355478 single base substitution C T intron_variant MELA-AU 17 49355478 49355478 single base substitution C T upstream_gene_variant MELA-AU 17 49355886 49355886 single base substitution G A intron_variant MELA-AU 17 49355886 49355886 single base substitution G A upstream_gene_variant MELA-AU 17 49356611 49356611 single base substitution C T intron_variant MELA-AU 17 49356611 49356611 single base substitution C T upstream_gene_variant MELA-AU 17 49357532 49357532 single base substitution C T intron_variant MELA-AU 17 49357532 49357532 single base substitution C T upstream_gene_variant MELA-AU 17 49358892 49358892 single base substitution C T intron_variant MELA-AU 17 49358892 49358892 single base substitution C T upstream_gene_variant MELA-AU 17 49360107 49360107 single base substitution C T intron_variant MELA-AU 17 49360107 49360107 single base substitution C T upstream_gene_variant MELA-AU 17 49360787 49360787 single base substitution C T intron_variant MELA-AU 17 49360787 49360787 single base substitution C T upstream_gene_variant MELA-AU 17 49361734 49361734 single base substitution T C intron_variant MELA-AU 17 49361734 49361734 single base substitution T C upstream_gene_variant MELA-AU 17 49361755 49361755 single base substitution T A intron_variant MELA-AU 17 49361755 49361755 single base substitution T A upstream_gene_variant MELA-AU 17 49361916 49361916 single base substitution G C intron_variant MELA-AU 17 49361916 49361916 single base substitution G C upstream_gene_variant MELA-AU 17 49362137 49362137 single base substitution T G intron_variant MELA-AU 17 49362137 49362137 single base substitution T G upstream_gene_variant MELA-AU 17 49362219 49362219 single base substitution C T intron_variant MELA-AU 17 49362219 49362219 single base substitution C T upstream_gene_variant MELA-AU 17 49362884 49362884 single base substitution C T intron_variant MELA-AU 17 49363428 49363428 single base substitution C T intron_variant MELA-AU 17 49363516 49363516 single base substitution G A intron_variant MELA-AU 17 49364411 49364411 single base substitution T G intron_variant MELA-AU 17 49364737 49364738 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 17 49365364 49365364 single base substitution C T intron_variant MELA-AU 17 49366770 49366770 single base substitution A G downstream_gene_variant MELA-AU 17 49366770 49366770 single base substitution A G intron_variant MELA-AU 17 49366789 49366789 single base substitution C T downstream_gene_variant MELA-AU 17 49366789 49366789 single base substitution C T intron_variant MELA-AU 17 49367012 49367012 single base substitution T C downstream_gene_variant MELA-AU 17 49367012 49367012 single base substitution T C intron_variant MELA-AU 17 49367023 49367023 single base substitution C T downstream_gene_variant MELA-AU 17 49367023 49367023 single base substitution C T intron_variant MELA-AU 17 49367524 49367524 single base substitution C T downstream_gene_variant MELA-AU 17 49367524 49367524 single base substitution C T intron_variant MELA-AU 17 49367525 49367525 single base substitution C T downstream_gene_variant MELA-AU 17 49367525 49367525 single base substitution C T intron_variant MELA-AU 17 49368247 49368247 single base substitution C T downstream_gene_variant MELA-AU 17 49368247 49368247 single base substitution C T intron_variant MELA-AU 17 49368443 49368443 single base substitution T C downstream_gene_variant MELA-AU 17 49368443 49368443 single base substitution T C intron_variant MELA-AU 17 49368837 49368837 single base substitution C T downstream_gene_variant MELA-AU 17 49368837 49368837 single base substitution C T intron_variant MELA-AU 17 49368837 49368837 single base substitution C T upstream_gene_variant MELA-AU 17 49369050 49369050 single base substitution C T downstream_gene_variant MELA-AU 17 49369050 49369050 single base substitution C T intron_variant MELA-AU 17 49369050 49369050 single base substitution C T upstream_gene_variant MELA-AU 17 49369726 49369726 single base substitution A T downstream_gene_variant MELA-AU 17 49369726 49369726 single base substitution A T intron_variant MELA-AU 17 49369726 49369726 single base substitution A T upstream_gene_variant MELA-AU 17 49369966 49369966 single base substitution C T downstream_gene_variant MELA-AU 17 49369966 49369966 single base substitution C T intron_variant MELA-AU 17 49369966 49369966 single base substitution C T upstream_gene_variant MELA-AU 17 49370101 49370101 single base substitution C T downstream_gene_variant MELA-AU 17 49370101 49370101 single base substitution C T intron_variant MELA-AU 17 49370101 49370101 single base substitution C T upstream_gene_variant MELA-AU 17 49370476 49370476 single base substitution C T downstream_gene_variant MELA-AU 17 49370476 49370476 single base substitution C T intron_variant MELA-AU 17 49370476 49370476 single base substitution C T upstream_gene_variant MELA-AU 17 49370620 49370620 single base substitution C A intron_variant MELA-AU 17 49370620 49370620 single base substitution C A upstream_gene_variant MELA-AU 17 49371396 49371396 single base substitution C T 3_prime_UTR_variant MELA-AU 17 49371396 49371396 single base substitution C T intron_variant MELA-AU 17 49371396 49371396 single base substitution C T synonymous_variant L546L 1636C>T MELA-AU 17 49371396 49371396 single base substitution C T upstream_gene_variant MELA-AU 17 49371784 49371784 single base substitution C T intron_variant MELA-AU 17 49371784 49371784 single base substitution C T upstream_gene_variant MELA-AU 17 49371958 49371958 single base substitution C T intron_variant MELA-AU 17 49371958 49371958 single base substitution C T upstream_gene_variant MELA-AU 17 49372062 49372062 single base substitution C T intron_variant MELA-AU 17 49372062 49372062 single base substitution C T upstream_gene_variant MELA-AU 17 49372062 49372063 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 49372062 49372063 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 17 49372461 49372461 single base substitution C G intron_variant MELA-AU 17 49372461 49372461 single base substitution C G upstream_gene_variant MELA-AU 17 49373084 49373084 single base substitution C T intron_variant MELA-AU 17 49373084 49373084 single base substitution C T upstream_gene_variant MELA-AU 17 49374839 49374839 single base substitution C T intron_variant MELA-AU 17 49375796 49375796 single base substitution C T downstream_gene_variant MELA-AU 17 49375811 49375811 single base substitution C T downstream_gene_variant MELA-AU 17 49376225 49376225 single base substitution C T downstream_gene_variant MELA-AU 17 49376728 49376728 single base substitution C G downstream_gene_variant MELA-AU 17 49377039 49377039 single base substitution C T downstream_gene_variant MELA-AU 17 49377454 49377454 single base substitution C T downstream_gene_variant MELA-AU 17 49377739 49377739 single base substitution C T downstream_gene_variant MELA-AU 17 49377886 49377886 single base substitution G A downstream_gene_variant MELA-AU 17 49378047 49378047 single base substitution G A downstream_gene_variant MELA-AU 17 49378105 49378105 single base substitution C T downstream_gene_variant MELA-AU 17 49378684 49378684 single base substitution T A downstream_gene_variant MELA-AU 17 49378979 49378979 single base substitution A C downstream_gene_variant MELA-AU 17 49379224 49379224 single base substitution A C downstream_gene_variant MELA-AU 17 49379651 49379651 single base substitution C T downstream_gene_variant MELA-AU 17 49380026 49380026 single base substitution C T downstream_gene_variant MELA-AU 17 49380133 49380133 single base substitution G T downstream_gene_variant ORCA-IN 17 49335878 49335879 deletion of <=200bp AG - upstream_gene_variant ORCA-IN 17 49344395 49344395 single base substitution C T intron_variant ORCA-IN 17 49353247 49353247 single base substitution G A exon_variant ORCA-IN 17 49353247 49353247 single base substitution G A synonymous_variant A244A 732G>A ORCA-IN 17 49353247 49353247 single base substitution G A upstream_gene_variant ORCA-IN 17 49360921 49360921 single base substitution G T intron_variant ORCA-IN 17 49360921 49360921 single base substitution G T upstream_gene_variant OV-AU 17 49337252 49337252 single base substitution G A upstream_gene_variant OV-AU 17 49337788 49337788 single base substitution G T upstream_gene_variant OV-AU 17 49352123 49352123 single base substitution T G intron_variant OV-AU 17 49352123 49352123 single base substitution T G upstream_gene_variant OV-AU 17 49354278 49354278 single base substitution C A intron_variant OV-AU 17 49354278 49354278 single base substitution C A upstream_gene_variant OV-AU 17 49367111 49367111 single base substitution T C downstream_gene_variant OV-AU 17 49367111 49367111 single base substitution T C intron_variant OV-AU 17 49367222 49367222 single base substitution C A downstream_gene_variant OV-AU 17 49367222 49367222 single base substitution C A intron_variant OV-AU 17 49368294 49368294 single base substitution G T downstream_gene_variant OV-AU 17 49368294 49368294 single base substitution G T intron_variant PACA-AU 17 49336350 49336350 deletion of <=200bp A - upstream_gene_variant PACA-AU 17 49340015 49340027 deletion of <=200bp CCTCCTGCCTCTG - intron_variant PACA-AU 17 49347233 49347233 single base substitution A T intron_variant PACA-AU 17 49347286 49347286 single base substitution A T intron_variant PACA-AU 17 49355405 49355405 single base substitution C T intron_variant PACA-AU 17 49355405 49355405 single base substitution C T upstream_gene_variant PACA-AU 17 49361508 49361508 single base substitution C T intron_variant PACA-AU 17 49361508 49361508 single base substitution C T upstream_gene_variant PACA-AU 17 49363486 49363486 single base substitution G A intron_variant PACA-AU 17 49367182 49367182 single base substitution G A downstream_gene_variant PACA-AU 17 49367182 49367182 single base substitution G A intron_variant PACA-AU 17 49368492 49368492 single base substitution C T downstream_gene_variant PACA-AU 17 49368492 49368492 single base substitution C T intron_variant PACA-AU 17 49369268 49369268 single base substitution G A downstream_gene_variant PACA-AU 17 49369268 49369268 single base substitution G A intron_variant PACA-AU 17 49369268 49369268 single base substitution G A upstream_gene_variant PACA-AU 17 49371718 49371718 single base substitution A C intron_variant PACA-AU 17 49371718 49371718 single base substitution A C upstream_gene_variant PACA-AU 17 49373966 49373966 single base substitution T A exon_variant PACA-AU 17 49373966 49373966 single base substitution T A intron_variant PACA-AU 17 49374607 49374607 single base substitution C A intron_variant PACA-AU 17 49374641 49374641 single base substitution T C intron_variant PACA-AU 17 49379784 49379784 single base substitution G A downstream_gene_variant PACA-CA 17 49348149 49348149 single base substitution C A intron_variant PACA-CA 17 49348664 49348664 single base substitution T C intron_variant PACA-CA 17 49348664 49348664 single base substitution T C upstream_gene_variant PACA-CA 17 49353088 49353088 single base substitution T G intron_variant PACA-CA 17 49353088 49353088 single base substitution T G upstream_gene_variant PACA-CA 17 49358502 49358502 single base substitution A T intron_variant PACA-CA 17 49358502 49358502 single base substitution A T upstream_gene_variant PACA-CA 17 49362799 49362799 single base substitution T A intron_variant PACA-CA 17 49368154 49368154 single base substitution C G downstream_gene_variant PACA-CA 17 49368154 49368154 single base substitution C G intron_variant PACA-CA 17 49368242 49368242 single base substitution C T downstream_gene_variant PACA-CA 17 49368242 49368242 single base substitution C T intron_variant PACA-CA 17 49369110 49369110 single base substitution A G downstream_gene_variant PACA-CA 17 49369110 49369110 single base substitution A G intron_variant PACA-CA 17 49369110 49369110 single base substitution A G upstream_gene_variant PACA-CA 17 49371352 49371352 single base substitution C T 3_prime_UTR_variant PACA-CA 17 49371352 49371352 single base substitution C T intron_variant PACA-CA 17 49371352 49371352 single base substitution C T missense_variant P531L 1592C>T PACA-CA 17 49371352 49371352 single base substitution C T upstream_gene_variant PACA-CA 17 49376093 49376099 deletion of <=200bp AGAGGAC - downstream_gene_variant PACA-CA 17 49376102 49376112 deletion of <=200bp AGGACATAGAG - downstream_gene_variant PACA-CA 17 49380217 49380217 deletion of <=200bp T - downstream_gene_variant PAEN-AU 17 49368441 49368441 single base substitution A G downstream_gene_variant PAEN-AU 17 49368441 49368441 single base substitution A G intron_variant PAEN-IT 17 49333289 49333289 single base substitution T C upstream_gene_variant PAEN-IT 17 49368435 49368435 single base substitution C A downstream_gene_variant PAEN-IT 17 49368435 49368435 single base substitution C A intron_variant PBCA-DE 17 49332962 49332962 deletion of <=200bp T - upstream_gene_variant PBCA-DE 17 49337264 49337264 single base substitution C T upstream_gene_variant PBCA-DE 17 49343082 49343082 single base substitution G A intron_variant PBCA-DE 17 49343553 49343553 single base substitution A T missense_variant M156L 466A>T PBCA-DE 17 49349981 49349981 single base substitution G A intron_variant PBCA-DE 17 49349981 49349981 single base substitution G A upstream_gene_variant PBCA-DE 17 49355123 49355123 single base substitution C A intron_variant PBCA-DE 17 49355123 49355123 single base substitution C A upstream_gene_variant PBCA-DE 17 49358057 49358057 single base substitution C T intron_variant PBCA-DE 17 49358057 49358057 single base substitution C T upstream_gene_variant PBCA-DE 17 49367302 49367302 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 49367302 49367302 insertion of <=200bp - T intron_variant PBCA-DE 17 49376670 49376670 single base substitution T A downstream_gene_variant PRAD-UK 17 49336463 49336463 single base substitution T C upstream_gene_variant PRAD-UK 17 49337428 49337428 single base substitution C G upstream_gene_variant PRAD-UK 17 49354753 49354753 single base substitution A G intron_variant PRAD-UK 17 49354753 49354753 single base substitution A G upstream_gene_variant PRAD-UK 17 49359949 49359949 single base substitution T G intron_variant PRAD-UK 17 49359949 49359949 single base substitution T G upstream_gene_variant PRAD-UK 17 49368431 49368431 single base substitution A G downstream_gene_variant PRAD-UK 17 49368431 49368431 single base substitution A G intron_variant PRAD-UK 17 49375842 49375842 insertion of <=200bp - A downstream_gene_variant RECA-EU 17 49366235 49366235 single base substitution A G downstream_gene_variant RECA-EU 17 49366235 49366235 single base substitution A G intron_variant RECA-EU 17 49372491 49372491 single base substitution T G intron_variant RECA-EU 17 49372491 49372491 single base substitution T G upstream_gene_variant RECA-EU 17 49377035 49377035 single base substitution G T downstream_gene_variant RECA-EU 17 49379909 49379909 single base substitution T A downstream_gene_variant SKCA-BR 17 49333502 49333502 single base substitution C A upstream_gene_variant SKCA-BR 17 49336805 49336805 single base substitution T C upstream_gene_variant SKCA-BR 17 49337051 49337051 single base substitution A G upstream_gene_variant SKCA-BR 17 49337733 49337733 single base substitution G A upstream_gene_variant SKCA-BR 17 49338077 49338077 single base substitution T C synonymous_variant P44P 132T>C SKCA-BR 17 49339222 49339222 single base substitution G A intron_variant SKCA-BR 17 49341575 49341575 single base substitution T G intron_variant SKCA-BR 17 49344381 49344381 single base substitution G A intron_variant SKCA-BR 17 49345330 49345330 single base substitution C T intron_variant SKCA-BR 17 49345897 49345897 single base substitution T C intron_variant SKCA-BR 17 49347200 49347200 insertion of <=200bp - TTG intron_variant SKCA-BR 17 49348001 49348001 single base substitution G A intron_variant SKCA-BR 17 49351100 49351100 insertion of <=200bp - TAATAAATA intron_variant SKCA-BR 17 49351100 49351100 insertion of <=200bp - TAATAAATA upstream_gene_variant SKCA-BR 17 49351417 49351417 single base substitution C T intron_variant SKCA-BR 17 49351417 49351417 single base substitution C T upstream_gene_variant SKCA-BR 17 49353629 49353629 single base substitution G C intron_variant SKCA-BR 17 49353629 49353629 single base substitution G C upstream_gene_variant SKCA-BR 17 49354701 49354701 single base substitution C T intron_variant SKCA-BR 17 49354701 49354701 single base substitution C T upstream_gene_variant SKCA-BR 17 49355821 49355821 single base substitution C T intron_variant SKCA-BR 17 49355821 49355821 single base substitution C T upstream_gene_variant SKCA-BR 17 49357986 49357986 single base substitution C T intron_variant SKCA-BR 17 49357986 49357986 single base substitution C T upstream_gene_variant SKCA-BR 17 49358522 49358523 deletion of <=200bp TA - intron_variant SKCA-BR 17 49358522 49358523 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 17 49358523 49358523 single base substitution A T intron_variant SKCA-BR 17 49358523 49358523 single base substitution A T upstream_gene_variant SKCA-BR 17 49358524 49358525 deletion of <=200bp TA - intron_variant SKCA-BR 17 49358524 49358525 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 17 49361827 49361827 single base substitution C T intron_variant SKCA-BR 17 49361827 49361827 single base substitution C T upstream_gene_variant SKCA-BR 17 49363547 49363547 single base substitution A G intron_variant SKCA-BR 17 49371352 49371352 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 49371352 49371352 single base substitution C T intron_variant SKCA-BR 17 49371352 49371352 single base substitution C T missense_variant P531L 1592C>T SKCA-BR 17 49371352 49371352 single base substitution C T upstream_gene_variant SKCA-BR 17 49373683 49373683 single base substitution C T exon_variant SKCA-BR 17 49373683 49373683 single base substitution C T intron_variant SKCA-BR 17 49374162 49374162 single base substitution C T exon_variant SKCA-BR 17 49374162 49374162 single base substitution C T intron_variant SKCA-BR 17 49377110 49377110 single base substitution T C downstream_gene_variant SKCM-US 17 49338083 49338083 single base substitution C T synonymous_variant S46S 138C>T SKCM-US 17 49353297 49353297 single base substitution C T exon_variant SKCM-US 17 49353297 49353297 single base substitution C T missense_variant P261L 782C>T SKCM-US 17 49353297 49353297 single base substitution C T upstream_gene_variant SKCM-US 17 49371371 49371371 single base substitution C T 3_prime_UTR_variant SKCM-US 17 49371371 49371371 single base substitution C T intron_variant SKCM-US 17 49371371 49371371 single base substitution C T synonymous_variant A537A 1611C>T SKCM-US 17 49371371 49371371 single base substitution C T upstream_gene_variant SKCM-US 17 49374332 49374332 single base substitution C T 3_prime_UTR_variant SKCM-US 17 49374332 49374332 single base substitution C T exon_variant SKCM-US 17 49374332 49374332 single base substitution C T missense_variant P95S 283C>T SKCM-US 17 49374332 49374332 single base substitution C T synonymous_variant H551H 1653C>T STAD-US 17 49346264 49346264 single base substitution T A missense_variant D207E 621T>A STAD-US 17 49354532 49354532 single base substitution G C intron_variant STAD-US 17 49354532 49354532 single base substitution G C missense_variant L293F 879G>C STAD-US 17 49354532 49354532 single base substitution G C missense_variant L3F 9G>C STAD-US 17 49354532 49354532 single base substitution G C upstream_gene_variant THCA-SA 17 49338275 49338275 single base substitution G A synonymous_variant L110L 330G>A THCA-SA 17 49365516 49365516 single base substitution A G 3_prime_UTR_variant THCA-SA 17 49365516 49365516 single base substitution A G downstream_gene_variant THCA-SA 17 49365516 49365516 single base substitution A G exon_variant THCA-SA 17 49365516 49365516 single base substitution A G synonymous_variant T485T 1455A>G THCA-SA 17 49365516 49365516 single base substitution A G synonymous_variant T76T 228A>G THCA-SA 17 49365516 49365516 single base substitution A G synonymous_variant T93T 279A>G UCEC-US 17 49338072 49338072 single base substitution G A missense_variant A43T 127G>A UCEC-US 17 49357376 49357376 single base substitution G T 3_prime_UTR_variant UCEC-US 17 49357376 49357376 single base substitution G T missense_variant E341D 1023G>T UCEC-US 17 49357376 49357376 single base substitution G T missense_variant E51D 153G>T UCEC-US 17 49357376 49357376 single base substitution G T upstream_gene_variant UCEC-US 17 49357442 49357442 single base substitution A G 3_prime_UTR_variant UCEC-US 17 49357442 49357442 single base substitution A G exon_variant UCEC-US 17 49357442 49357442 single base substitution A G synonymous_variant G363G 1089A>G UCEC-US 17 49357442 49357442 single base substitution A G synonymous_variant G73G 219A>G UCEC-US 17 49357442 49357442 single base substitution A G upstream_gene_variant UCEC-US 17 49357756 49357756 single base substitution G T 3_prime_UTR_variant UCEC-US 17 49357756 49357756 single base substitution G T exon_variant UCEC-US 17 49357756 49357756 single base substitution G T stop_gained E374* 1120G>T UCEC-US 17 49357756 49357756 single base substitution G T stop_gained E84* 250G>T UCEC-US 17 49357756 49357756 single base substitution G T upstream_gene_variant UCEC-US 17 49362606 49362606 single base substitution G A missense_variant G10E 29G>A UCEC-US 17 49362606 49362606 single base substitution G A missense_variant G112E 335G>A UCEC-US 17 49362606 49362606 single base substitution G A missense_variant G402E 1205G>A UCEC-US 17 49362606 49362606 single base substitution G A splice_region_variant UCEC-US 17 49362606 49362606 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AX-A0J0-01 COSM981387 c.1023G>T p.E341D Substitution - Missense 17:51280015-51280015 + TCGA-AY-6196-01 COSM3755670 c.330G>A p.L110L Substitution - coding silent 17:51260914-51260914 + SNU-C4 COSM4652874 c.1633G>A p.A545T Substitution - Missense 17:51294032-51294032 + TCGA-GV-A3JX-01 COSM1303053 c.23G>A p.R8Q Substitution - Missense 17:51260607-51260607 + SJRHB012_R COSM3737482 c.623-1G>C p.? Unknown 17:51273361-51273361 + T3118 COSM4739991 c.1146T>C p.N382N Substitution - coding silent 17:51280421-51280421 + 2492721 COSM4394945 c.782C>T p.P261L Substitution - Missense 17:51275936-51275936 + CHEWS008 COSM4579870 c.39G>A p.R13R Substitution - coding silent 17:51260623-51260623 + Pat_01_B COSM5852985 c.2T>C p.M1T Substitution - Missense 17:51260586-51260586 + MO_1316 COSM5566868 c.22C>T p.R8* Substitution - Nonsense 17:51260606-51260606 + S00050 COSM318278 c.1135A>T p.M379L Substitution - Missense 17:51280410-51280410 + 2492723 COSM4394945 c.782C>T p.P261L Substitution - Missense 17:51275936-51275936 + TCGA-EE-A180-06 COSM3519501 c.1611C>T p.A537A Substitution - coding silent 17:51294010-51294010 + TCGA-AP-A056-01 COSM981388 c.1089A>G p.G363G Substitution - coding silent 17:51280081-51280081 + sysucc-1135T COSM5479945 c.1254C>G p.N418K Substitution - Missense 17:51285294-51285294 + TCGA-B0-5707-01 COSM473045 c.1602A>G p.G534G Substitution - coding silent 17:51294001-51294001 + TCGA-DK-A3IK-01 COSM165464 c.363G>C p.S121S Substitution - coding silent 17:51263294-51263294 + 259610 COSM3725442 c.897T>C p.F299F Substitution - coding silent 17:51277189-51277189 + ESCC_170 COSM5649282 c.1532C>T p.S511L Substitution - Missense 17:51293931-51293931 + TCGA-AZ-5407-01 COSM1384436 c.233T>G p.L78R Substitution - Missense 17:51260817-51260817 + TCGA-39-5036-01 COSM706857 c.13C>A p.R5R Substitution - coding silent 17:51260597-51260597 + PTC-10C COSM3755670 c.330G>A p.L110L Substitution - coding silent 17:51260914-51260914 + BD25T COSM5509034 c.1314G>C p.Q438H Substitution - Missense 17:51285354-51285354 + HCT116 COSM3193409 c.522G>A p.S174S Substitution - coding silent 17:51266248-51266248 + RK088_C01 COSM3701240 c.1469T>C p.I490T Substitution - Missense 17:51288169-51288169 + SJRHB012_S COSM3737482 c.623-1G>C p.? Unknown 17:51273361-51273361 + TCGA-HU-A4H4-01 COSM4067848 c.621T>A p.D207E Substitution - Missense 17:51268903-51268903 + B105-0 COSM1750157 c.1017G>C p.L339F Substitution - Missense 17:51280009-51280009 + pfg108T COSM4765216 c.1581_1582insGGAA p.D528fs*15 Insertion - Frameshift 17:51293980-51293981 + SNUH_G10_S1 COSM3755671 c.702A>C p.G234G Substitution - coding silent 17:51273441-51273441 + CSCC-44-T COSM4508059 c.764C>G p.S255* Substitution - Nonsense 17:51275918-51275918 + STC252 COSM5055605 c.1560T>C p.N520N Substitution - coding silent 17:51293959-51293959 + TCGA-EE-A29B-06 COSM3519504 c.1653C>T p.H551H Substitution - coding silent 17:51296971-51296971 + TCGA-D1-A16O-01 COSM981386 c.711+1G>T p.? Unknown 17:51273451-51273451 + CSCC-10-T COSM4460214 c.1157C>T p.A386V Substitution - Missense 17:51280432-51280432 + PD4133a COSM165464 c.363G>C p.S121S Substitution - coding silent 17:51263294-51263294 + ESCC_158 COSM5646695 c.307G>C p.E103Q Substitution - Missense 17:51260891-51260891 + TCGA-B4-5836-01 COSM1494031 c.830T>A p.L277Q Substitution - Missense 17:51275984-51275984 + LUAD-B00416 COSM331012 c.623-1G>T p.? Unknown 17:51273361-51273361 + 392 COSM4428175 c.225G>T p.R75R Substitution - coding silent 17:51260809-51260809 + TCGA-AS-3778-01 COSM473044 c.440A>G p.D147G Substitution - Missense 17:51263371-51263371 + T95 COSM4739990 c.757C>T p.R253W Substitution - Missense 17:51275911-51275911 + 345973 COSM981389 c.1120G>T p.E374* Substitution - Nonsense 17:51280395-51280395 + BD121T COSM5515636 c.310G>A p.D104N Substitution - Missense 17:51260894-51260894 + 2492722 COSM4394945 c.782C>T p.P261L Substitution - Missense 17:51275936-51275936 + TCGA-D5-6927-01 COSM1384438 c.481C>T p.R161W Substitution - Missense 17:51266207-51266207 + 2492729 COSM5729687 c.869G>A p.S290N Substitution - Missense 17:51277161-51277161 + TCGA-AX-A0J0-01 COSM981389 c.1120G>T p.E374* Substitution - Nonsense 17:51280395-51280395 + CSCC-31-T COSM4571330 c.432T>A p.D144E Substitution - Missense 17:51263363-51263363 + PCSI_0052_Pa_X COSM3378253 c.1592C>T p.P531L Substitution - Missense 17:51293991-51293991 + BD221T COSM5496398 c.1170C>G p.F390L Substitution - Missense 17:51280445-51280445 + TCGA-BT-A20N-01 COSM417447 c.1112A>C p.K371T Substitution - Missense 17:51280104-51280104 + TCGA-D1-A174-01 COSM981390 c.1205G>A p.G402E Substitution - Missense 17:51285245-51285245 + TCGA-CF-A1HR-01 COSM417446 c.1668C>G p.F556L Substitution - Missense 17:51296986-51296986 + 33T COSM3712386 c.732G>A p.A244A Substitution - coding silent 17:51275886-51275886 + HN_63007 COSM130137 c.910A>T p.S304C Substitution - Missense 17:51277202-51277202 + RK186_C01 COSM3742324 c.1180A>G p.S394G Substitution - Missense 17:51280455-51280455 + S00050 COSM318278 c.1135A>T p.M379L Substitution - Missense 17:51280410-51280410 + GC1_T COSM148299 c.1299A>G p.T433T Substitution - coding silent 17:51285339-51285339 + 386-01-4TD COSM5418899 c.1516T>C p.S506P Substitution - Missense 17:51293915-51293915 + PD4105a COSM165463 c.856C>T p.P286S Substitution - Missense 17:51277148-51277148 + TCGA-D1-A17D-01 COSM981385 c.127G>A p.A43T Substitution - Missense 17:51260711-51260711 + 587376 COSM981389 c.1120G>T p.E374* Substitution - Nonsense 17:51280395-51280395 + TCGA-EE-A3JD-06 COSM4394945 c.782C>T p.P261L Substitution - Missense 17:51275936-51275936 + YULAD COSM5386781 c.865C>T p.Q289* Substitution - Nonsense 17:51277157-51277157 + 2492720 COSM4394945 c.782C>T p.P261L Substitution - Missense 17:51275936-51275936 + OSCC-GB_00330111 COSM3712386 c.732G>A p.A244A Substitution - coding silent 17:51275886-51275886 + TCGA-ER-A19K-01 COSM3519497 c.138C>T p.S46S Substitution - coding silent 17:51260722-51260722 + Pat_31_B COSM5852986 c.496A>T p.K166* Substitution - Nonsense 17:51266222-51266222 + SJRHB012 COSM3737482 c.623-1G>C p.? Unknown 17:51273361-51273361 + S02299 COSM5690332 c.997G>T p.V333L Substitution - Missense 17:51277289-51277289 + YUVEME COSM5386780 c.678C>T p.S226S Substitution - coding silent 17:51273417-51273417 + TCGA-AM-5820-01 COSM3755669 c.312C>T p.D104D Substitution - coding silent 17:51260896-51260896 + C658 COSM4443306 c.720C>A p.N240K Substitution - Missense 17:51275874-51275874 + PT14_1 COSM5897147 c.691C>A p.L231I Substitution - Missense 17:51273430-51273430 + TCGA-DU-6410-01 COSM3970158 c.1628G>A p.G543D Substitution - Missense 17:51294027-51294027 + 392 COSM4428174 c.51G>A p.A17A Substitution - coding silent 17:51260635-51260635 + CSCC-40-T COSM3193417 c.1202C>T p.S401L Substitution - Missense 17:51280477-51280477 + B105-0-Tumor COSM1750157 c.1017G>C p.L339F Substitution - Missense 17:51280009-51280009 + TCGA-AN-A046-01 COSM3819995 c.608A>C p.K203T Substitution - Missense 17:51268890-51268890 + TCGA-AM-5821-01 COSM3755671 c.702A>C p.G234G Substitution - coding silent 17:51273441-51273441 + TCGA-HU-A4H5-01 COSM4067849 c.879G>C p.L293F Substitution - Missense 17:51277171-51277171 + 587376 COSM1232146 c.43A>G p.T15A Substitution - Missense 17:51260627-51260627 + PT49 COSM5936373 c.1049C>T p.S350F Substitution - Missense 17:51280041-51280041 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.709327 17q21.33 612816 2438351|CGAP|BC025276|C/T|coding|Asp80Asp|336|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K371T c.1112A>C 17 49357465 BLCA A G Missense p.D147G c.440A>G 17 49340732 RCCC AGTTGTTGTT - IntronicDeletion . c.1504-408_1504-399delAGTTGTTGTT 17 49370856 CLL A T Missense p.E247D c.741A>T 17 49353256 LUAD A T Missense p.M379L c.1135A>T 17 49357771 SCLC A T Missense p.S304C c.910A>T 17 49354563 HNSC C A 5-UTRSNV . c.1-2C>A 17 49337944 HC C A Nonsense p.S124* c.371C>A 17 49340663 CM C A Synonymous p.R5R c.13C>A 17 49337958 LUSC C G CdsStopSNV . c.1668C>G 17 49374347 BLCA C T Missense p.P261L c.782C>T 17 49353297 CM C T Missense p.P286S c.856C>T 17 49354509 BRCA C T Missense p.T526I c.1577C>T 17 49371337 CM C T Synonymous p.A537A c.1611C>T 17 49371371 CM C T Synonymous p.C416C c.1248C>T 17 49362649 CM C T Synonymous p.S46S c.138C>T 17 49338083 CM G A Missense p.A43T c.127G>A 17 49338072 UCEC G A Missense p.G402E c.1205G>A 17 49362606 UCEC G A Missense p.G543D c.1628G>A 17 49371388 LGG G A Missense p.R8Q c.23G>A 17 49337968 BLCA G A Missense p.R8Q c.23G>A 17 49337968 CM G C Synonymous p.S121S c.363G>C 17 49340655 BLCA G C Synonymous p.S121S c.363G>C 17 49340655 BRCA G T SpliceDonorSNV . c.1113+1G>T 17 49357467 LUAD