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 73316530 73316530 + Silent SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr17:73316530G>C c.573C>G c.(571-573)ccC>ccG p.P191P BLCA 17 73316548 73316548 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr17:73316548G>A c.555C>T c.(553-555)gtC>gtT p.V185V BLCA 17 73321993 73321993 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:73321993G>C c.285C>G c.(283-285)ttC>ttG p.F95L BLCA 17 73322005 73322005 + Silent SNP A A T TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr17:73322005A>T c.273T>A c.(271-273)gcT>gcA p.A91A CHOL 17 73317898 73317898 + Missense_Mutation SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr17:73317898C>T c.310G>A c.(310-312)Gat>Aat p.D104N COAD 17 73316549 73316549 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:73316549A>G c.554T>C c.(553-555)gTc>gCc p.V185A COAD 17 73317741 73317741 + Splice_Site SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:73317741T>C c.467A>G c.(466-468)cAg>cGg p.Q156R COAD 17 73317862 73317862 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:73317862C>T c.346G>A c.(346-348)Ggg>Agg p.G116R COAD 17 73322036 73322036 + Missense_Mutation SNP C C A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr17:73322036C>A c.242G>T c.(241-243)gGg>gTg p.G81V COAD 17 73389683 73389683 + Silent SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:73389683G>A c.27C>T c.(25-27)ttC>ttT p.F9F COAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73316549 73316549 + Missense_Mutation SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:73316549A>G c.554T>C c.(553-555)gTc>gCc p.V185A COADREAD 17 73317741 73317741 + Splice_Site SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:73317741T>C c.467A>G c.(466-468)cAg>cGg p.Q156R COADREAD 17 73317828 73317828 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:73317828G>T c.380C>A c.(379-381)tCt>tAt p.S127Y COADREAD 17 73317862 73317862 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:73317862C>T c.346G>A c.(346-348)Ggg>Agg p.G116R COADREAD 17 73322036 73322036 + Missense_Mutation SNP C C A TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr17:73322036C>A c.242G>T c.(241-243)gGg>gTg p.G81V COADREAD 17 73389683 73389683 + Silent SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:73389683G>A c.27C>T c.(25-27)ttC>ttT p.F9F COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-D5-6538-01A-11D-1719-10 TCGA-D5-6538-10A-01D-1719-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L COADREAD 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L DLBC 17 73321980 73321980 + Splice_Site SNP T T C TCGA-FF-8046-01A-11D-2210-10 TCGA-FF-8046-10A-01D-2210-10 g.chr17:73321980T>C c.298A>G c.(298-300)Aag>Gag p.K100E KIPAN 17 73316550 73316550 + Missense_Mutation SNP C C T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr17:73316550C>T c.553G>A c.(553-555)Gtc>Atc p.V185I KIPAN 17 73316567 73316567 + Missense_Mutation SNP C C A TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr17:73316567C>A c.536G>T c.(535-537)cGg>cTg p.R179L KIRC 17 73316550 73316550 + Missense_Mutation SNP C C T TCGA-BP-4329-01A-02D-1366-10 TCGA-BP-4329-11A-01D-1366-10 g.chr17:73316550C>T c.553G>A c.(553-555)Gtc>Atc p.V185I KIRP 17 73316567 73316567 + Missense_Mutation SNP C C A TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr17:73316567C>A c.536G>T c.(535-537)cGg>cTg p.R179L LUAD 17 73316467 73316467 + Silent SNP G G C TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr17:73316467G>C c.636C>G c.(634-636)ccC>ccG p.P212P LUAD 17 73316501 73316501 + Missense_Mutation SNP T T A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr17:73316501T>A c.602A>T c.(601-603)cAg>cTg p.Q201L LUAD 17 73316622 73316622 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 g.chr17:73316622C>A c.481G>T c.(481-483)Gtc>Ttc p.V161F LUAD 17 73317748 73317748 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr17:73317748C>A c.460G>T c.(460-462)Gtg>Ttg p.V154L LUAD 17 73317755 73317755 + Missense_Mutation SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr17:73317755T>C c.453A>G c.(451-453)atA>atG p.I151M LUAD 17 73317779 73317779 + Missense_Mutation SNP G G T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr17:73317779G>T c.429C>A c.(427-429)aaC>aaA p.N143K OV 17 73316548 73316548 + Silent SNP G G A TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 g.chr17:73316548G>A c.555C>T c.(553-555)gtC>gtT p.V185V OV 17 73317818 73317818 + Missense_Mutation SNP C C G TCGA-24-2024-01A-02W-0722-08 TCGA-24-2024-11A-01W-0722-08 g.chr17:73317818C>G c.390G>C c.(388-390)gaG>gaC p.E130D OV 17 73389683 73389683 + Missense_Mutation SNP G G T TCGA-25-1628-01A-01W-0615-10 TCGA-25-1628-10A-01W-0615-10 g.chr17:73389683G>T c.27C>A c.(25-27)ttC>ttA p.F9L PRAD 17 73317762 73317762 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 g.chr17:73317762C>T c.446G>A c.(445-447)cGg>cAg p.R149Q READ 17 73317828 73317828 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:73317828G>T c.380C>A c.(379-381)tCt>tAt p.S127Y READ 17 73389685 73389685 + Missense_Mutation SNP A A G TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr17:73389685A>G c.25T>C c.(25-27)Ttc>Ctc p.F9L SKCM 17 73317851 73317851 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:73317851G>A c.357C>T c.(355-357)ttC>ttT p.F119F SKCM 17 73322082 73322082 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:73322082G>A c.196C>T c.(196-198)Ccc>Tcc p.P66S SKCM 17 73389691 73389691 + Frame_Shift_Del DEL A A - TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr17:73389691delA c.19delT c.(19-21)tatfs p.Y7fs

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 73389674 73389674 single base substitution A T exon_variant BLCA-CN 17 73389674 73389674 single base substitution A T synonymous_variant T12T 36T>A BLCA-US 17 73316530 73316530 single base substitution G C downstream_gene_variant BLCA-US 17 73316530 73316530 single base substitution G C exon_variant BLCA-US 17 73316530 73316530 single base substitution G C intron_variant BLCA-US 17 73316530 73316530 single base substitution G C missense_variant P135R 404C>G BLCA-US 17 73316530 73316530 single base substitution G C synonymous_variant P150P 450C>G BLCA-US 17 73316530 73316530 single base substitution G C synonymous_variant P191P 573C>G BOCA-FR 17 73328063 73328063 single base substitution C A intron_variant BOCA-FR 17 73334946 73334946 single base substitution G A intron_variant BRCA-EU 17 73309351 73309351 single base substitution G A downstream_gene_variant BRCA-EU 17 73309873 73309873 single base substitution C T downstream_gene_variant BRCA-EU 17 73311288 73311288 single base substitution C T downstream_gene_variant BRCA-EU 17 73311889 73311889 single base substitution G A downstream_gene_variant BRCA-EU 17 73312453 73312453 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 73314368 73314368 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 73314368 73314368 single base substitution C G downstream_gene_variant BRCA-EU 17 73314629 73314629 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 73314629 73314629 single base substitution G A downstream_gene_variant BRCA-EU 17 73314629 73314629 single base substitution G A intron_variant BRCA-EU 17 73316678 73316679 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 17 73316678 73316679 deletion of <=200bp TG - intron_variant BRCA-EU 17 73317952 73317952 single base substitution C T intron_variant BRCA-EU 17 73317952 73317952 single base substitution C T upstream_gene_variant BRCA-EU 17 73318508 73318508 single base substitution C T intron_variant BRCA-EU 17 73318508 73318508 single base substitution C T upstream_gene_variant BRCA-EU 17 73318585 73318585 single base substitution G A intron_variant BRCA-EU 17 73318585 73318585 single base substitution G A upstream_gene_variant BRCA-EU 17 73319326 73319326 single base substitution G A intron_variant BRCA-EU 17 73319326 73319326 single base substitution G A upstream_gene_variant BRCA-EU 17 73319414 73319414 single base substitution G A intron_variant BRCA-EU 17 73319414 73319414 single base substitution G A upstream_gene_variant BRCA-EU 17 73319768 73319768 single base substitution C T intron_variant BRCA-EU 17 73319768 73319768 single base substitution C T upstream_gene_variant BRCA-EU 17 73320820 73320820 single base substitution C G intron_variant BRCA-EU 17 73320820 73320820 single base substitution C G upstream_gene_variant BRCA-EU 17 73321981 73321981 single base substitution G A intron_variant BRCA-EU 17 73321981 73321981 single base substitution G A splice_region_variant BRCA-EU 17 73321981 73321981 single base substitution G A upstream_gene_variant BRCA-EU 17 73322110 73322110 single base substitution G A intron_variant BRCA-EU 17 73322110 73322110 single base substitution G A upstream_gene_variant BRCA-EU 17 73322111 73322111 single base substitution G A intron_variant BRCA-EU 17 73322111 73322111 single base substitution G A upstream_gene_variant BRCA-EU 17 73323482 73323482 single base substitution C T intron_variant BRCA-EU 17 73323482 73323482 single base substitution C T upstream_gene_variant BRCA-EU 17 73324055 73324055 single base substitution G C intron_variant BRCA-EU 17 73324055 73324055 single base substitution G C upstream_gene_variant BRCA-EU 17 73324226 73324226 single base substitution G C intron_variant BRCA-EU 17 73324226 73324226 single base substitution G C upstream_gene_variant BRCA-EU 17 73325311 73325311 single base substitution C G intron_variant BRCA-EU 17 73325311 73325311 single base substitution C G upstream_gene_variant BRCA-EU 17 73327000 73327000 single base substitution C A intron_variant BRCA-EU 17 73327000 73327000 single base substitution C A upstream_gene_variant BRCA-EU 17 73329475 73329475 single base substitution G A intron_variant BRCA-EU 17 73329938 73329938 deletion of <=200bp A - intron_variant BRCA-EU 17 73330237 73330237 deletion of <=200bp T - intron_variant BRCA-EU 17 73332632 73332632 single base substitution A C intron_variant BRCA-EU 17 73333084 73333084 single base substitution G C intron_variant BRCA-EU 17 73333287 73333287 single base substitution G A intron_variant BRCA-EU 17 73333866 73333866 single base substitution G T intron_variant BRCA-EU 17 73335556 73335556 insertion of <=200bp - AT intron_variant BRCA-EU 17 73335590 73335590 deletion of <=200bp A - intron_variant BRCA-EU 17 73335720 73335720 deletion of <=200bp G - intron_variant BRCA-EU 17 73337434 73337434 single base substitution G A intron_variant BRCA-EU 17 73340337 73340337 single base substitution G C intron_variant BRCA-EU 17 73341019 73341019 single base substitution C T intron_variant BRCA-EU 17 73341426 73341426 single base substitution G A intron_variant BRCA-EU 17 73341525 73341525 single base substitution A G intron_variant BRCA-EU 17 73342061 73342061 single base substitution G A intron_variant BRCA-EU 17 73342208 73342208 single base substitution G C intron_variant BRCA-EU 17 73342340 73342340 single base substitution C G intron_variant BRCA-EU 17 73342767 73342767 single base substitution G A intron_variant BRCA-EU 17 73343262 73343262 single base substitution A G intron_variant BRCA-EU 17 73345176 73345176 single base substitution G T intron_variant BRCA-EU 17 73345648 73345648 single base substitution G T intron_variant BRCA-EU 17 73346494 73346494 single base substitution C T intron_variant BRCA-EU 17 73347607 73347607 single base substitution C T intron_variant BRCA-EU 17 73348333 73348333 single base substitution G A intron_variant BRCA-EU 17 73348472 73348488 deletion of <=200bp ATAGGATGTATTAACGC - intron_variant BRCA-EU 17 73351122 73351122 single base substitution C T intron_variant BRCA-EU 17 73351305 73351305 single base substitution C T intron_variant BRCA-EU 17 73352496 73352496 single base substitution G A intron_variant BRCA-EU 17 73353396 73353396 single base substitution G C intron_variant BRCA-EU 17 73354566 73354566 single base substitution G C intron_variant BRCA-EU 17 73355538 73355538 single base substitution G A intron_variant BRCA-EU 17 73356062 73356062 single base substitution A T intron_variant BRCA-EU 17 73356063 73356063 single base substitution A T intron_variant BRCA-EU 17 73356147 73356147 single base substitution G C intron_variant BRCA-EU 17 73356769 73356769 insertion of <=200bp - G intron_variant BRCA-EU 17 73359288 73359288 single base substitution A C intron_variant BRCA-EU 17 73360506 73360506 single base substitution A G intron_variant BRCA-EU 17 73361064 73361064 single base substitution G A intron_variant BRCA-EU 17 73361247 73361247 single base substitution A T intron_variant BRCA-EU 17 73361818 73361818 single base substitution G C intron_variant BRCA-EU 17 73361982 73361982 insertion of <=200bp - T intron_variant BRCA-EU 17 73362003 73362003 deletion of <=200bp T - intron_variant BRCA-EU 17 73362756 73362756 single base substitution T A intron_variant BRCA-EU 17 73363253 73363253 deletion of <=200bp T - intron_variant BRCA-EU 17 73363633 73363633 deletion of <=200bp C - intron_variant BRCA-EU 17 73363694 73363694 single base substitution G A intron_variant BRCA-EU 17 73364071 73364071 single base substitution C T intron_variant BRCA-EU 17 73364243 73364243 single base substitution G A intron_variant BRCA-EU 17 73364331 73364331 single base substitution C G intron_variant BRCA-EU 17 73364807 73364807 single base substitution T C intron_variant BRCA-EU 17 73364964 73364964 single base substitution T A intron_variant BRCA-EU 17 73365115 73365115 single base substitution A T intron_variant BRCA-EU 17 73365242 73365242 single base substitution A T intron_variant BRCA-EU 17 73365245 73365245 single base substitution C A intron_variant BRCA-EU 17 73365249 73365249 single base substitution G C intron_variant BRCA-EU 17 73365250 73365250 single base substitution T A intron_variant BRCA-EU 17 73365295 73365295 single base substitution G C intron_variant BRCA-EU 17 73366497 73366497 single base substitution A G intron_variant BRCA-EU 17 73366992 73366992 single base substitution G A intron_variant BRCA-EU 17 73368349 73368349 single base substitution C G intron_variant BRCA-EU 17 73369140 73369140 single base substitution G A intron_variant BRCA-EU 17 73369550 73369550 single base substitution C G intron_variant BRCA-EU 17 73370183 73370183 single base substitution G C intron_variant BRCA-EU 17 73371288 73371288 single base substitution C A intron_variant BRCA-EU 17 73373763 73373763 single base substitution G A intron_variant BRCA-EU 17 73373785 73373785 insertion of <=200bp - A intron_variant BRCA-EU 17 73374518 73374518 single base substitution T C intron_variant BRCA-EU 17 73374558 73374558 single base substitution T A intron_variant BRCA-EU 17 73374929 73374929 single base substitution C T intron_variant BRCA-EU 17 73375022 73375022 single base substitution G A intron_variant BRCA-EU 17 73375333 73375333 single base substitution G A intron_variant BRCA-EU 17 73375333 73375333 single base substitution G C intron_variant BRCA-EU 17 73377513 73377513 single base substitution G C intron_variant BRCA-EU 17 73379920 73379920 single base substitution G A downstream_gene_variant BRCA-EU 17 73379920 73379920 single base substitution G A intron_variant BRCA-EU 17 73380166 73380166 single base substitution C G downstream_gene_variant BRCA-EU 17 73380166 73380166 single base substitution C G intron_variant BRCA-EU 17 73381318 73381318 single base substitution T C downstream_gene_variant BRCA-EU 17 73381318 73381318 single base substitution T C intron_variant BRCA-EU 17 73381495 73381495 single base substitution G A downstream_gene_variant BRCA-EU 17 73381495 73381495 single base substitution G A intron_variant BRCA-EU 17 73381927 73381927 single base substitution G C downstream_gene_variant BRCA-EU 17 73381927 73381927 single base substitution G C intron_variant BRCA-EU 17 73382409 73382409 single base substitution G A downstream_gene_variant BRCA-EU 17 73382409 73382409 single base substitution G A intron_variant BRCA-EU 17 73382425 73382425 single base substitution C G downstream_gene_variant BRCA-EU 17 73382425 73382425 single base substitution C G intron_variant BRCA-EU 17 73382530 73382530 single base substitution G A downstream_gene_variant BRCA-EU 17 73382530 73382530 single base substitution G A intron_variant BRCA-EU 17 73382680 73382680 single base substitution G A downstream_gene_variant BRCA-EU 17 73382680 73382680 single base substitution G A intron_variant BRCA-EU 17 73383567 73383567 single base substitution C T downstream_gene_variant BRCA-EU 17 73383567 73383567 single base substitution C T intron_variant BRCA-EU 17 73385940 73385940 single base substitution A T downstream_gene_variant BRCA-EU 17 73385940 73385940 single base substitution A T intron_variant BRCA-EU 17 73387154 73387154 single base substitution C T downstream_gene_variant BRCA-EU 17 73387154 73387154 single base substitution C T intron_variant BRCA-EU 17 73388123 73388123 single base substitution G C downstream_gene_variant BRCA-EU 17 73388123 73388123 single base substitution G C intron_variant BRCA-EU 17 73388144 73388144 single base substitution C T downstream_gene_variant BRCA-EU 17 73388144 73388144 single base substitution C T intron_variant BRCA-EU 17 73388177 73388177 single base substitution C T downstream_gene_variant BRCA-EU 17 73388177 73388177 single base substitution C T intron_variant BRCA-EU 17 73389211 73389211 single base substitution A G downstream_gene_variant BRCA-EU 17 73389211 73389211 single base substitution A G intron_variant BRCA-EU 17 73390883 73390883 single base substitution C T intron_variant BRCA-EU 17 73390883 73390883 single base substitution C T upstream_gene_variant BRCA-EU 17 73393128 73393128 single base substitution A C intron_variant BRCA-EU 17 73393128 73393128 single base substitution A C upstream_gene_variant BRCA-EU 17 73393549 73393549 single base substitution A C intron_variant BRCA-EU 17 73393549 73393549 single base substitution A C upstream_gene_variant BRCA-EU 17 73393578 73393578 insertion of <=200bp - A intron_variant BRCA-EU 17 73393578 73393578 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 73394286 73394286 single base substitution A G intron_variant BRCA-EU 17 73394286 73394286 single base substitution A G upstream_gene_variant BRCA-EU 17 73394514 73394514 deletion of <=200bp T - intron_variant BRCA-EU 17 73394514 73394514 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 73395300 73395301 deletion of <=200bp TG - intron_variant BRCA-EU 17 73396258 73396258 single base substitution C T intron_variant BRCA-EU 17 73396390 73396390 single base substitution G C intron_variant BRCA-EU 17 73396507 73396507 single base substitution G T intron_variant BRCA-EU 17 73397231 73397231 deletion of <=200bp A - intron_variant BRCA-EU 17 73398468 73398470 deletion of <=200bp AAG - intron_variant BRCA-EU 17 73398538 73398538 single base substitution T C intron_variant BRCA-EU 17 73401175 73401175 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 73401175 73401175 single base substitution G A intron_variant BRCA-EU 17 73403508 73403508 single base substitution T G upstream_gene_variant BRCA-EU 17 73403792 73403792 single base substitution C A upstream_gene_variant BRCA-EU 17 73403970 73403972 deletion of <=200bp CTT - upstream_gene_variant BRCA-EU 17 73405751 73405751 single base substitution G T upstream_gene_variant BRCA-FR 17 73311889 73311889 single base substitution G A downstream_gene_variant BRCA-FR 17 73313475 73313475 single base substitution G A downstream_gene_variant BRCA-FR 17 73322458 73322458 single base substitution A T intron_variant BRCA-FR 17 73322458 73322458 single base substitution A T upstream_gene_variant BRCA-FR 17 73341525 73341525 single base substitution A G intron_variant BRCA-FR 17 73344790 73344790 single base substitution C G intron_variant BRCA-FR 17 73353396 73353396 single base substitution G C intron_variant BRCA-FR 17 73364331 73364331 single base substitution C G intron_variant BRCA-FR 17 73364826 73364826 single base substitution C T intron_variant BRCA-FR 17 73366497 73366497 single base substitution A G intron_variant BRCA-FR 17 73381927 73381927 single base substitution G C downstream_gene_variant BRCA-FR 17 73381927 73381927 single base substitution G C intron_variant BRCA-FR 17 73382530 73382530 single base substitution G A downstream_gene_variant BRCA-FR 17 73382530 73382530 single base substitution G A intron_variant BRCA-FR 17 73382680 73382680 single base substitution G A downstream_gene_variant BRCA-FR 17 73382680 73382680 single base substitution G A intron_variant BRCA-FR 17 73390656 73390656 single base substitution C G intron_variant BRCA-FR 17 73390656 73390656 single base substitution C G upstream_gene_variant BRCA-FR 17 73394351 73394351 single base substitution T A intron_variant BRCA-FR 17 73394351 73394351 single base substitution T A upstream_gene_variant BRCA-FR 17 73402287 73402287 single base substitution T G upstream_gene_variant BRCA-FR 17 73402632 73402632 single base substitution G T upstream_gene_variant BRCA-UK 17 73316572 73316572 single base substitution G A downstream_gene_variant BRCA-UK 17 73316572 73316572 single base substitution G A exon_variant BRCA-UK 17 73316572 73316572 single base substitution G A intron_variant BRCA-UK 17 73316572 73316572 single base substitution G A missense_variant S121F 362C>T BRCA-UK 17 73316572 73316572 single base substitution G A synonymous_variant F136F 408C>T BRCA-UK 17 73316572 73316572 single base substitution G A synonymous_variant F177F 531C>T BRCA-UK 17 73321995 73321995 single base substitution A C exon_variant BRCA-UK 17 73321995 73321995 single base substitution A C intron_variant BRCA-UK 17 73321995 73321995 single base substitution A C missense_variant F95V 283T>G BRCA-UK 17 73321995 73321995 single base substitution A C upstream_gene_variant BRCA-UK 17 73361985 73361985 insertion of <=200bp - T intron_variant BRCA-UK 17 73374518 73374518 single base substitution T C intron_variant BRCA-UK 17 73388177 73388177 single base substitution C T downstream_gene_variant BRCA-UK 17 73388177 73388177 single base substitution C T intron_variant BRCA-UK 17 73396507 73396507 single base substitution G T intron_variant BRCA-US 17 73389776 73389776 single base substitution C A 5_prime_UTR_variant BRCA-US 17 73389776 73389776 single base substitution C A exon_variant BRCA-US 17 73389776 73389776 single base substitution C A upstream_gene_variant CLLE-ES 17 73366917 73366917 single base substitution T C intron_variant CLLE-ES 17 73367259 73367259 single base substitution T G intron_variant CLLE-ES 17 73393699 73393699 single base substitution G T intron_variant CLLE-ES 17 73393699 73393699 single base substitution G T upstream_gene_variant CLLE-ES 17 73400663 73400663 single base substitution T C intron_variant CLLE-ES 17 73405566 73405566 single base substitution A G upstream_gene_variant COAD-US 17 73317862 73317862 single base substitution C T downstream_gene_variant COAD-US 17 73317862 73317862 single base substitution C T exon_variant COAD-US 17 73317862 73317862 single base substitution C T intron_variant COAD-US 17 73317862 73317862 single base substitution C T missense_variant G116R 346G>A COAD-US 17 73317862 73317862 single base substitution C T missense_variant G75R 223G>A COAD-US 17 73317862 73317862 single base substitution C T upstream_gene_variant COCA-CN 17 73317726 73317726 single base substitution C A downstream_gene_variant COCA-CN 17 73317726 73317726 single base substitution C A intron_variant EOPC-DE 17 73324063 73324063 single base substitution G A intron_variant EOPC-DE 17 73324063 73324063 single base substitution G A upstream_gene_variant EOPC-DE 17 73339165 73339165 single base substitution T G intron_variant EOPC-DE 17 73339841 73339841 single base substitution T C intron_variant EOPC-DE 17 73361190 73361190 single base substitution G C intron_variant ESAD-UK 17 73309881 73309882 deletion of <=200bp CT - downstream_gene_variant ESAD-UK 17 73310394 73310394 single base substitution T C downstream_gene_variant ESAD-UK 17 73312129 73312129 single base substitution G C downstream_gene_variant ESAD-UK 17 73312565 73312565 single base substitution A G downstream_gene_variant ESAD-UK 17 73312566 73312566 single base substitution C T downstream_gene_variant ESAD-UK 17 73317805 73317805 single base substitution G A downstream_gene_variant ESAD-UK 17 73317805 73317805 single base substitution G A exon_variant ESAD-UK 17 73317805 73317805 single base substitution G A intron_variant ESAD-UK 17 73317805 73317805 single base substitution G A missense_variant H10Y 28C>T ESAD-UK 17 73317805 73317805 single base substitution G A missense_variant H135Y 403C>T ESAD-UK 17 73317805 73317805 single base substitution G A missense_variant H94Y 280C>T ESAD-UK 17 73319893 73319893 single base substitution T C intron_variant ESAD-UK 17 73319893 73319893 single base substitution T C upstream_gene_variant ESAD-UK 17 73324269 73324269 single base substitution G C intron_variant ESAD-UK 17 73324269 73324269 single base substitution G C upstream_gene_variant ESAD-UK 17 73330753 73330753 single base substitution G A intron_variant ESAD-UK 17 73331346 73331346 single base substitution A T intron_variant ESAD-UK 17 73331903 73331903 insertion of <=200bp - A intron_variant ESAD-UK 17 73332977 73332977 single base substitution C T intron_variant ESAD-UK 17 73334130 73334130 single base substitution C T intron_variant ESAD-UK 17 73336534 73336534 single base substitution G A intron_variant ESAD-UK 17 73339031 73339031 single base substitution G A intron_variant ESAD-UK 17 73341116 73341116 single base substitution T A intron_variant ESAD-UK 17 73341608 73341608 single base substitution A T intron_variant ESAD-UK 17 73341712 73341712 single base substitution C T intron_variant ESAD-UK 17 73342068 73342068 single base substitution A G intron_variant ESAD-UK 17 73346074 73346074 single base substitution A T intron_variant ESAD-UK 17 73348574 73348574 single base substitution A G intron_variant ESAD-UK 17 73349770 73349770 single base substitution G T intron_variant ESAD-UK 17 73352161 73352161 single base substitution C T intron_variant ESAD-UK 17 73352373 73352373 single base substitution G A intron_variant ESAD-UK 17 73354728 73354728 single base substitution G A intron_variant ESAD-UK 17 73354898 73354898 single base substitution G T intron_variant ESAD-UK 17 73355322 73355322 single base substitution T C intron_variant ESAD-UK 17 73363281 73363281 single base substitution T A intron_variant ESAD-UK 17 73368275 73368275 single base substitution C T intron_variant ESAD-UK 17 73369993 73369993 single base substitution G A intron_variant ESAD-UK 17 73371814 73371814 single base substitution T C intron_variant ESAD-UK 17 73372761 73372761 single base substitution C T intron_variant ESAD-UK 17 73372873 73372873 single base substitution A C intron_variant ESAD-UK 17 73373500 73373500 single base substitution G A intron_variant ESAD-UK 17 73373997 73373997 single base substitution C G intron_variant ESAD-UK 17 73374616 73374617 deletion of <=200bp AT - intron_variant ESAD-UK 17 73376101 73376101 single base substitution T C intron_variant ESAD-UK 17 73376467 73376467 single base substitution A G intron_variant ESAD-UK 17 73376720 73376720 single base substitution C T intron_variant ESAD-UK 17 73376840 73376840 deletion of <=200bp A - intron_variant ESAD-UK 17 73377818 73377818 single base substitution A G intron_variant ESAD-UK 17 73379682 73379682 single base substitution T C downstream_gene_variant ESAD-UK 17 73379682 73379682 single base substitution T C intron_variant ESAD-UK 17 73380738 73380738 single base substitution C A downstream_gene_variant ESAD-UK 17 73380738 73380738 single base substitution C A intron_variant ESAD-UK 17 73384421 73384421 single base substitution T A intron_variant ESAD-UK 17 73385937 73385937 single base substitution A T downstream_gene_variant ESAD-UK 17 73385937 73385937 single base substitution A T intron_variant ESAD-UK 17 73387559 73387559 single base substitution T G downstream_gene_variant ESAD-UK 17 73387559 73387559 single base substitution T G intron_variant ESAD-UK 17 73390197 73390197 single base substitution C A intron_variant ESAD-UK 17 73390197 73390197 single base substitution C A upstream_gene_variant ESAD-UK 17 73390406 73390406 single base substitution G T intron_variant ESAD-UK 17 73390406 73390406 single base substitution G T upstream_gene_variant ESAD-UK 17 73390875 73390875 single base substitution G A intron_variant ESAD-UK 17 73390875 73390875 single base substitution G A upstream_gene_variant ESAD-UK 17 73395881 73395881 single base substitution G A intron_variant ESAD-UK 17 73396341 73396341 single base substitution G A intron_variant ESAD-UK 17 73398001 73398001 single base substitution C A intron_variant ESAD-UK 17 73399237 73399237 insertion of <=200bp - T intron_variant ESAD-UK 17 73405576 73405576 single base substitution C T upstream_gene_variant KIRC-US 17 73316550 73316550 single base substitution C T downstream_gene_variant KIRC-US 17 73316550 73316550 single base substitution C T exon_variant KIRC-US 17 73316550 73316550 single base substitution C T intron_variant KIRC-US 17 73316550 73316550 single base substitution C T missense_variant M128I 384G>A KIRC-US 17 73316550 73316550 single base substitution C T missense_variant V144I 430G>A KIRC-US 17 73316550 73316550 single base substitution C T missense_variant V185I 553G>A LAML-KR 17 73312556 73312556 single base substitution T C downstream_gene_variant LAML-KR 17 73312565 73312565 single base substitution A G downstream_gene_variant LAML-KR 17 73312566 73312566 single base substitution C T downstream_gene_variant LAML-KR 17 73334050 73334050 single base substitution T C intron_variant LAML-KR 17 73342262 73342262 single base substitution C T intron_variant LAML-KR 17 73382217 73382217 single base substitution G T downstream_gene_variant LAML-KR 17 73382217 73382217 single base substitution G T intron_variant LICA-FR 17 73312566 73312566 single base substitution C T downstream_gene_variant LICA-FR 17 73324315 73324315 single base substitution G A intron_variant LICA-FR 17 73324315 73324315 single base substitution G A upstream_gene_variant LICA-FR 17 73333492 73333492 single base substitution C A intron_variant LICA-FR 17 73342244 73342244 insertion of <=200bp - T intron_variant LICA-FR 17 73346317 73346317 insertion of <=200bp - AAA intron_variant LICA-FR 17 73346317 73346317 insertion of <=200bp - AA intron_variant LICA-FR 17 73351690 73351690 deletion of <=200bp A - intron_variant LICA-FR 17 73370581 73370581 single base substitution T G intron_variant LICA-FR 17 73376428 73376428 insertion of <=200bp - A intron_variant LICA-FR 17 73388831 73388831 single base substitution T C downstream_gene_variant LICA-FR 17 73388831 73388831 single base substitution T C intron_variant LICA-FR 17 73397047 73397047 insertion of <=200bp - T intron_variant LINC-JP 17 73311866 73311866 deletion of <=200bp G - downstream_gene_variant LINC-JP 17 73312556 73312556 single base substitution T C downstream_gene_variant LINC-JP 17 73316505 73316505 single base substitution C T downstream_gene_variant LINC-JP 17 73316505 73316505 single base substitution C T exon_variant LINC-JP 17 73316505 73316505 single base substitution C T intron_variant LINC-JP 17 73316505 73316505 single base substitution C T missense_variant G159R 475G>A LINC-JP 17 73316505 73316505 single base substitution C T missense_variant G200R 598G>A LINC-JP 17 73316505 73316505 single base substitution C T synonymous_variant T143T 429G>A LINC-JP 17 73317794 73317794 single base substitution T C downstream_gene_variant LINC-JP 17 73317794 73317794 single base substitution T C exon_variant LINC-JP 17 73317794 73317794 single base substitution T C intron_variant LINC-JP 17 73317794 73317794 single base substitution T C synonymous_variant T138T 414A>G LINC-JP 17 73317794 73317794 single base substitution T C synonymous_variant T13T 39A>G LINC-JP 17 73317794 73317794 single base substitution T C synonymous_variant T97T 291A>G LINC-JP 17 73318504 73318504 single base substitution A C intron_variant LINC-JP 17 73318504 73318504 single base substitution A C upstream_gene_variant LINC-JP 17 73319380 73319380 deletion of <=200bp A - intron_variant LINC-JP 17 73319380 73319380 deletion of <=200bp A - upstream_gene_variant LINC-JP 17 73319623 73319623 single base substitution T C intron_variant LINC-JP 17 73319623 73319623 single base substitution T C upstream_gene_variant LINC-JP 17 73322696 73322696 single base substitution G A intron_variant LINC-JP 17 73322696 73322696 single base substitution G A upstream_gene_variant LINC-JP 17 73326013 73326013 single base substitution T C intron_variant LINC-JP 17 73326013 73326013 single base substitution T C upstream_gene_variant LINC-JP 17 73366995 73366995 single base substitution C A intron_variant LINC-JP 17 73370750 73370750 single base substitution C A intron_variant LINC-JP 17 73389993 73389993 single base substitution C G intron_variant LINC-JP 17 73389993 73389993 single base substitution C G upstream_gene_variant LINC-JP 17 73391909 73391909 single base substitution C A intron_variant LINC-JP 17 73391909 73391909 single base substitution C A upstream_gene_variant LINC-JP 17 73396780 73396780 single base substitution A C intron_variant LIRI-JP 17 73313626 73313626 single base substitution C A downstream_gene_variant LIRI-JP 17 73313818 73313818 single base substitution C A downstream_gene_variant LIRI-JP 17 73314495 73314495 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 73314495 73314495 single base substitution A C downstream_gene_variant LIRI-JP 17 73314495 73314495 single base substitution A C intron_variant LIRI-JP 17 73315380 73315380 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 73315380 73315380 single base substitution T G downstream_gene_variant LIRI-JP 17 73315380 73315380 single base substitution T G intron_variant LIRI-JP 17 73316082 73316082 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 73316082 73316082 single base substitution A G downstream_gene_variant LIRI-JP 17 73316082 73316082 single base substitution A G intron_variant LIRI-JP 17 73316236 73316236 single base substitution A C 3_prime_UTR_variant LIRI-JP 17 73316236 73316236 single base substitution A C downstream_gene_variant LIRI-JP 17 73316236 73316236 single base substitution A C intron_variant LIRI-JP 17 73329265 73329265 single base substitution T A intron_variant LIRI-JP 17 73329978 73329978 single base substitution T G intron_variant LIRI-JP 17 73330278 73330278 single base substitution G C intron_variant LIRI-JP 17 73331477 73331477 single base substitution G A intron_variant LIRI-JP 17 73336221 73336221 single base substitution C A intron_variant LIRI-JP 17 73337258 73337258 single base substitution A C intron_variant LIRI-JP 17 73337656 73337656 single base substitution G C intron_variant LIRI-JP 17 73339092 73339092 single base substitution T C intron_variant LIRI-JP 17 73339364 73339364 single base substitution T C intron_variant LIRI-JP 17 73340126 73340126 single base substitution A G intron_variant LIRI-JP 17 73342360 73342360 single base substitution A G intron_variant LIRI-JP 17 73343007 73343007 single base substitution T A intron_variant LIRI-JP 17 73344869 73344869 single base substitution A G intron_variant LIRI-JP 17 73345818 73345818 single base substitution C A intron_variant LIRI-JP 17 73345954 73345954 single base substitution T C intron_variant LIRI-JP 17 73346151 73346152 deletion of <=200bp AG - intron_variant LIRI-JP 17 73347103 73347103 single base substitution T C intron_variant LIRI-JP 17 73348844 73348844 single base substitution T C intron_variant LIRI-JP 17 73350854 73350854 single base substitution C T intron_variant LIRI-JP 17 73353094 73353094 single base substitution G T intron_variant LIRI-JP 17 73354433 73354433 single base substitution T A intron_variant LIRI-JP 17 73355892 73355892 single base substitution T C intron_variant LIRI-JP 17 73361731 73361731 single base substitution A C intron_variant LIRI-JP 17 73362297 73362297 single base substitution T C intron_variant LIRI-JP 17 73362761 73362761 single base substitution C T intron_variant LIRI-JP 17 73363440 73363440 single base substitution A G intron_variant LIRI-JP 17 73363451 73363451 single base substitution T C intron_variant LIRI-JP 17 73364033 73364033 single base substitution G A intron_variant LIRI-JP 17 73366039 73366039 single base substitution T C intron_variant LIRI-JP 17 73367556 73367556 single base substitution C A intron_variant LIRI-JP 17 73372989 73372989 single base substitution G A intron_variant LIRI-JP 17 73373437 73373437 single base substitution C G intron_variant LIRI-JP 17 73375107 73375107 single base substitution T C intron_variant LIRI-JP 17 73375192 73375192 single base substitution G A intron_variant LIRI-JP 17 73380021 73380021 single base substitution C A downstream_gene_variant LIRI-JP 17 73380021 73380021 single base substitution C A intron_variant LIRI-JP 17 73380047 73380047 single base substitution C T downstream_gene_variant LIRI-JP 17 73380047 73380047 single base substitution C T intron_variant LIRI-JP 17 73382571 73382571 single base substitution A T downstream_gene_variant LIRI-JP 17 73382571 73382571 single base substitution A T intron_variant LIRI-JP 17 73383745 73383745 single base substitution G A exon_variant LIRI-JP 17 73383745 73383745 single base substitution G A intron_variant LIRI-JP 17 73384645 73384645 single base substitution T C downstream_gene_variant LIRI-JP 17 73384645 73384645 single base substitution T C intron_variant LIRI-JP 17 73386950 73386950 single base substitution A C downstream_gene_variant LIRI-JP 17 73386950 73386950 single base substitution A C intron_variant LIRI-JP 17 73387264 73387264 single base substitution C A downstream_gene_variant LIRI-JP 17 73387264 73387264 single base substitution C A intron_variant LIRI-JP 17 73391977 73391977 single base substitution G A intron_variant LIRI-JP 17 73391977 73391977 single base substitution G A upstream_gene_variant LIRI-JP 17 73398797 73398797 single base substitution G T intron_variant LIRI-JP 17 73401885 73401885 single base substitution G A upstream_gene_variant LIRI-JP 17 73406223 73406223 single base substitution T A upstream_gene_variant LUSC-KR 17 73312556 73312556 single base substitution T C downstream_gene_variant LUSC-KR 17 73312565 73312565 single base substitution A G downstream_gene_variant LUSC-KR 17 73312566 73312566 single base substitution C T downstream_gene_variant LUSC-KR 17 73313633 73313633 single base substitution C G downstream_gene_variant LUSC-KR 17 73315368 73315368 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 73315368 73315368 single base substitution C T downstream_gene_variant LUSC-KR 17 73315368 73315368 single base substitution C T intron_variant LUSC-KR 17 73315546 73315546 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 73315546 73315546 single base substitution G T downstream_gene_variant LUSC-KR 17 73315546 73315546 single base substitution G T intron_variant LUSC-KR 17 73318453 73318453 single base substitution C A intron_variant LUSC-KR 17 73318453 73318453 single base substitution C A upstream_gene_variant LUSC-KR 17 73319239 73319239 single base substitution T A intron_variant LUSC-KR 17 73319239 73319239 single base substitution T A upstream_gene_variant LUSC-KR 17 73325614 73325614 single base substitution T C intron_variant LUSC-KR 17 73325614 73325614 single base substitution T C upstream_gene_variant LUSC-KR 17 73326230 73326230 single base substitution C T intron_variant LUSC-KR 17 73326230 73326230 single base substitution C T upstream_gene_variant LUSC-KR 17 73330643 73330643 single base substitution G C intron_variant LUSC-KR 17 73330666 73330666 single base substitution A G intron_variant LUSC-KR 17 73334875 73334875 single base substitution C A intron_variant LUSC-KR 17 73335359 73335359 single base substitution C T intron_variant LUSC-KR 17 73345880 73345880 single base substitution T A intron_variant LUSC-KR 17 73345881 73345881 single base substitution T G intron_variant LUSC-KR 17 73349466 73349466 single base substitution C G intron_variant LUSC-KR 17 73352659 73352659 single base substitution C G intron_variant LUSC-KR 17 73364313 73364313 single base substitution G T intron_variant LUSC-KR 17 73371014 73371014 single base substitution C A intron_variant LUSC-KR 17 73374090 73374090 single base substitution C G intron_variant LUSC-KR 17 73392269 73392269 single base substitution G A intron_variant LUSC-KR 17 73392269 73392269 single base substitution G A upstream_gene_variant LUSC-KR 17 73403166 73403166 single base substitution G A upstream_gene_variant MALY-DE 17 73310445 73310445 single base substitution T G downstream_gene_variant MALY-DE 17 73310446 73310446 single base substitution A C downstream_gene_variant MALY-DE 17 73314447 73314447 single base substitution C G 3_prime_UTR_variant MALY-DE 17 73314447 73314447 single base substitution C G downstream_gene_variant MALY-DE 17 73314447 73314447 single base substitution C G intron_variant MALY-DE 17 73314492 73314492 single base substitution C T 3_prime_UTR_variant MALY-DE 17 73314492 73314492 single base substitution C T downstream_gene_variant MALY-DE 17 73314492 73314492 single base substitution C T intron_variant MALY-DE 17 73315962 73315962 single base substitution A T 3_prime_UTR_variant MALY-DE 17 73315962 73315962 single base substitution A T downstream_gene_variant MALY-DE 17 73315962 73315962 single base substitution A T intron_variant MALY-DE 17 73316527 73316527 single base substitution G A downstream_gene_variant MALY-DE 17 73316527 73316527 single base substitution G A exon_variant MALY-DE 17 73316527 73316527 single base substitution G A intron_variant MALY-DE 17 73316527 73316527 single base substitution G A missense_variant T136I 407C>T MALY-DE 17 73316527 73316527 single base substitution G A synonymous_variant N151N 453C>T MALY-DE 17 73316527 73316527 single base substitution G A synonymous_variant N192N 576C>T MALY-DE 17 73316573 73316573 single base substitution A T downstream_gene_variant MALY-DE 17 73316573 73316573 single base substitution A T exon_variant MALY-DE 17 73316573 73316573 single base substitution A T intron_variant MALY-DE 17 73316573 73316573 single base substitution A T missense_variant F136Y 407T>A MALY-DE 17 73316573 73316573 single base substitution A T missense_variant F177Y 530T>A MALY-DE 17 73316573 73316573 single base substitution A T missense_variant S121T 361T>A MALY-DE 17 73316615 73316615 single base substitution G T downstream_gene_variant MALY-DE 17 73316615 73316615 single base substitution G T exon_variant MALY-DE 17 73316615 73316615 single base substitution G T intron_variant MALY-DE 17 73316615 73316615 single base substitution G T missense_variant A122D 365C>A MALY-DE 17 73316615 73316615 single base substitution G T missense_variant A163D 488C>A MALY-DE 17 73316615 73316615 single base substitution G T missense_variant P107T 319C>A MALY-DE 17 73317797 73317797 single base substitution A T downstream_gene_variant MALY-DE 17 73317797 73317797 single base substitution A T exon_variant MALY-DE 17 73317797 73317797 single base substitution A T intron_variant MALY-DE 17 73317797 73317797 single base substitution A T synonymous_variant S12S 36T>A MALY-DE 17 73317797 73317797 single base substitution A T synonymous_variant S137S 411T>A MALY-DE 17 73317797 73317797 single base substitution A T synonymous_variant S96S 288T>A MALY-DE 17 73317805 73317805 single base substitution G C downstream_gene_variant MALY-DE 17 73317805 73317805 single base substitution G C exon_variant MALY-DE 17 73317805 73317805 single base substitution G C intron_variant MALY-DE 17 73317805 73317805 single base substitution G C missense_variant H10D 28C>G MALY-DE 17 73317805 73317805 single base substitution G C missense_variant H135D 403C>G MALY-DE 17 73317805 73317805 single base substitution G C missense_variant H94D 280C>G MALY-DE 17 73317954 73317954 single base substitution T A intron_variant MALY-DE 17 73317954 73317954 single base substitution T A upstream_gene_variant MALY-DE 17 73322097 73322097 single base substitution A C exon_variant MALY-DE 17 73322097 73322097 single base substitution A C intron_variant MALY-DE 17 73322097 73322097 single base substitution A C missense_variant F61V 181T>G MALY-DE 17 73322097 73322097 single base substitution A C upstream_gene_variant MALY-DE 17 73328877 73328877 single base substitution A C missense_variant V27G 80T>G MALY-DE 17 73331914 73331914 single base substitution A T intron_variant MALY-DE 17 73331937 73331937 single base substitution A C intron_variant MALY-DE 17 73333463 73333463 single base substitution T A intron_variant MALY-DE 17 73333709 73333709 single base substitution T A intron_variant MALY-DE 17 73334569 73334569 single base substitution C T intron_variant MALY-DE 17 73336286 73336286 single base substitution T G intron_variant MALY-DE 17 73338727 73338727 single base substitution C T intron_variant MALY-DE 17 73340794 73340794 single base substitution T C intron_variant MALY-DE 17 73342594 73342594 single base substitution T A intron_variant MALY-DE 17 73342635 73342635 single base substitution C G intron_variant MALY-DE 17 73344286 73344286 single base substitution T C intron_variant MALY-DE 17 73346824 73346824 single base substitution T A intron_variant MALY-DE 17 73354002 73354002 insertion of <=200bp - A intron_variant MALY-DE 17 73355493 73355493 single base substitution A C intron_variant MALY-DE 17 73355727 73355727 single base substitution C A intron_variant MALY-DE 17 73357969 73357969 single base substitution A G intron_variant MALY-DE 17 73358714 73358714 single base substitution A T intron_variant MALY-DE 17 73363943 73363943 single base substitution T A intron_variant MALY-DE 17 73366186 73366186 single base substitution G A intron_variant MALY-DE 17 73366438 73366438 single base substitution G A intron_variant MALY-DE 17 73370687 73370688 deletion of <=200bp CA - intron_variant MALY-DE 17 73377227 73377227 single base substitution A G intron_variant MALY-DE 17 73380898 73380898 single base substitution T C downstream_gene_variant MALY-DE 17 73380898 73380898 single base substitution T C intron_variant MALY-DE 17 73381048 73381048 single base substitution G A downstream_gene_variant MALY-DE 17 73381048 73381048 single base substitution G A intron_variant MALY-DE 17 73384325 73384325 single base substitution G A intron_variant MALY-DE 17 73387633 73387633 single base substitution T C downstream_gene_variant MALY-DE 17 73387633 73387633 single base substitution T C intron_variant MALY-DE 17 73397231 73397231 insertion of <=200bp - A intron_variant MALY-DE 17 73405169 73405169 single base substitution T C upstream_gene_variant MALY-DE 17 73406389 73406389 single base substitution G A upstream_gene_variant MELA-AU 17 73309933 73309933 single base substitution G A downstream_gene_variant MELA-AU 17 73310004 73310004 single base substitution A G downstream_gene_variant MELA-AU 17 73310326 73310326 single base substitution G A downstream_gene_variant MELA-AU 17 73310623 73310623 single base substitution G A downstream_gene_variant MELA-AU 17 73310820 73310820 single base substitution G A downstream_gene_variant MELA-AU 17 73311267 73311267 single base substitution G A downstream_gene_variant MELA-AU 17 73311694 73311694 single base substitution G A downstream_gene_variant MELA-AU 17 73312224 73312224 single base substitution C T downstream_gene_variant MELA-AU 17 73312745 73312745 single base substitution G A downstream_gene_variant MELA-AU 17 73312856 73312856 single base substitution G A downstream_gene_variant MELA-AU 17 73314051 73314051 single base substitution G A downstream_gene_variant MELA-AU 17 73314140 73314140 single base substitution G A downstream_gene_variant MELA-AU 17 73314569 73314569 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73314569 73314569 single base substitution G A downstream_gene_variant MELA-AU 17 73314569 73314569 single base substitution G A intron_variant MELA-AU 17 73314997 73314997 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73314997 73314997 single base substitution G A downstream_gene_variant MELA-AU 17 73314997 73314997 single base substitution G A intron_variant MELA-AU 17 73315144 73315144 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73315144 73315144 single base substitution G A downstream_gene_variant MELA-AU 17 73315144 73315144 single base substitution G A intron_variant MELA-AU 17 73316178 73316178 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73316178 73316178 single base substitution G A downstream_gene_variant MELA-AU 17 73316178 73316178 single base substitution G A intron_variant MELA-AU 17 73317002 73317002 single base substitution G A downstream_gene_variant MELA-AU 17 73317002 73317002 single base substitution G A intron_variant MELA-AU 17 73317073 73317073 single base substitution G A downstream_gene_variant MELA-AU 17 73317073 73317073 single base substitution G A intron_variant MELA-AU 17 73317154 73317154 single base substitution G A downstream_gene_variant MELA-AU 17 73317154 73317154 single base substitution G A intron_variant MELA-AU 17 73317875 73317875 single base substitution G A downstream_gene_variant MELA-AU 17 73317875 73317875 single base substitution G A exon_variant MELA-AU 17 73317875 73317875 single base substitution G A intron_variant MELA-AU 17 73317875 73317875 single base substitution G A synonymous_variant L111L 333C>T MELA-AU 17 73317875 73317875 single base substitution G A synonymous_variant L70L 210C>T MELA-AU 17 73317875 73317875 single base substitution G A upstream_gene_variant MELA-AU 17 73318244 73318244 single base substitution G T intron_variant MELA-AU 17 73318244 73318244 single base substitution G T upstream_gene_variant MELA-AU 17 73318380 73318380 single base substitution G A intron_variant MELA-AU 17 73318380 73318380 single base substitution G A upstream_gene_variant MELA-AU 17 73318659 73318659 single base substitution G A intron_variant MELA-AU 17 73318659 73318659 single base substitution G A upstream_gene_variant MELA-AU 17 73319347 73319347 single base substitution G A intron_variant MELA-AU 17 73319347 73319347 single base substitution G A upstream_gene_variant MELA-AU 17 73320567 73320567 single base substitution A G intron_variant MELA-AU 17 73320567 73320567 single base substitution A G upstream_gene_variant MELA-AU 17 73320588 73320588 single base substitution G A intron_variant MELA-AU 17 73320588 73320588 single base substitution G A upstream_gene_variant MELA-AU 17 73321064 73321064 single base substitution G A intron_variant MELA-AU 17 73321064 73321064 single base substitution G A upstream_gene_variant MELA-AU 17 73321951 73321951 single base substitution C T intron_variant MELA-AU 17 73321951 73321951 single base substitution C T upstream_gene_variant MELA-AU 17 73321968 73321968 single base substitution G A intron_variant MELA-AU 17 73321968 73321968 single base substitution G A upstream_gene_variant MELA-AU 17 73322910 73322910 single base substitution G A intron_variant MELA-AU 17 73322910 73322910 single base substitution G A upstream_gene_variant MELA-AU 17 73323054 73323054 single base substitution G A intron_variant MELA-AU 17 73323054 73323054 single base substitution G A upstream_gene_variant MELA-AU 17 73324300 73324300 single base substitution G A intron_variant MELA-AU 17 73324300 73324300 single base substitution G A upstream_gene_variant MELA-AU 17 73325750 73325750 single base substitution G A intron_variant MELA-AU 17 73325750 73325750 single base substitution G A upstream_gene_variant MELA-AU 17 73326553 73326553 single base substitution G A intron_variant MELA-AU 17 73326553 73326553 single base substitution G A upstream_gene_variant MELA-AU 17 73327291 73327291 single base substitution G A intron_variant MELA-AU 17 73327291 73327291 single base substitution G A upstream_gene_variant MELA-AU 17 73328139 73328139 single base substitution G A intron_variant MELA-AU 17 73329582 73329582 single base substitution T C intron_variant MELA-AU 17 73330598 73330598 single base substitution G A intron_variant MELA-AU 17 73331288 73331288 single base substitution G A intron_variant MELA-AU 17 73332310 73332310 single base substitution G A intron_variant MELA-AU 17 73332533 73332533 single base substitution G A intron_variant MELA-AU 17 73332787 73332787 single base substitution G A intron_variant MELA-AU 17 73332953 73332953 single base substitution G A intron_variant MELA-AU 17 73333272 73333272 single base substitution G A intron_variant MELA-AU 17 73333276 73333276 single base substitution G C intron_variant MELA-AU 17 73333952 73333952 single base substitution T C intron_variant MELA-AU 17 73334054 73334054 single base substitution C T intron_variant MELA-AU 17 73334932 73334932 single base substitution T C intron_variant MELA-AU 17 73336105 73336105 single base substitution G A intron_variant MELA-AU 17 73337700 73337700 single base substitution A C intron_variant MELA-AU 17 73337848 73337848 single base substitution G A intron_variant MELA-AU 17 73338804 73338805 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73339168 73339168 single base substitution G A intron_variant MELA-AU 17 73339181 73339181 single base substitution G C intron_variant MELA-AU 17 73339316 73339316 single base substitution G A intron_variant MELA-AU 17 73339489 73339489 single base substitution G A intron_variant MELA-AU 17 73339543 73339543 single base substitution G A intron_variant MELA-AU 17 73339802 73339802 single base substitution A T intron_variant MELA-AU 17 73340160 73340160 single base substitution G A intron_variant MELA-AU 17 73341337 73341337 single base substitution G A intron_variant MELA-AU 17 73341490 73341490 single base substitution G A intron_variant MELA-AU 17 73341574 73341574 single base substitution C A intron_variant MELA-AU 17 73341592 73341592 single base substitution G A intron_variant MELA-AU 17 73341599 73341599 single base substitution G A intron_variant MELA-AU 17 73341779 73341779 single base substitution C T intron_variant MELA-AU 17 73341883 73341883 single base substitution G A intron_variant MELA-AU 17 73342151 73342151 single base substitution G T intron_variant MELA-AU 17 73342384 73342384 single base substitution G A intron_variant MELA-AU 17 73342408 73342408 single base substitution C A intron_variant MELA-AU 17 73343049 73343049 single base substitution G A intron_variant MELA-AU 17 73343391 73343391 single base substitution G A intron_variant MELA-AU 17 73343463 73343463 single base substitution C T intron_variant MELA-AU 17 73343469 73343469 single base substitution C T intron_variant MELA-AU 17 73343635 73343635 single base substitution A G intron_variant MELA-AU 17 73344306 73344306 single base substitution T C intron_variant MELA-AU 17 73344347 73344347 single base substitution G A intron_variant MELA-AU 17 73344460 73344460 single base substitution G A intron_variant MELA-AU 17 73344611 73344611 single base substitution G A intron_variant MELA-AU 17 73344707 73344707 single base substitution G A intron_variant MELA-AU 17 73345016 73345016 single base substitution C T intron_variant MELA-AU 17 73345018 73345018 single base substitution A C intron_variant MELA-AU 17 73345789 73345789 single base substitution C T intron_variant MELA-AU 17 73346104 73346104 single base substitution G A intron_variant MELA-AU 17 73346218 73346218 single base substitution A G intron_variant MELA-AU 17 73346542 73346542 single base substitution G A intron_variant MELA-AU 17 73346706 73346706 single base substitution G A intron_variant MELA-AU 17 73347179 73347182 deletion of <=200bp GAAG - intron_variant MELA-AU 17 73347418 73347418 single base substitution A G intron_variant MELA-AU 17 73348361 73348361 single base substitution T C intron_variant MELA-AU 17 73349322 73349322 single base substitution G A intron_variant MELA-AU 17 73349455 73349455 single base substitution A G intron_variant MELA-AU 17 73349895 73349895 single base substitution G A intron_variant MELA-AU 17 73351051 73351051 single base substitution G A intron_variant MELA-AU 17 73352113 73352113 single base substitution C G intron_variant MELA-AU 17 73352267 73352267 single base substitution C T intron_variant MELA-AU 17 73353401 73353401 single base substitution G A intron_variant MELA-AU 17 73353406 73353406 single base substitution G A intron_variant MELA-AU 17 73353422 73353422 single base substitution T C intron_variant MELA-AU 17 73353426 73353426 single base substitution G A intron_variant MELA-AU 17 73353726 73353726 single base substitution G A intron_variant MELA-AU 17 73353784 73353784 single base substitution C T intron_variant MELA-AU 17 73354178 73354178 single base substitution T A intron_variant MELA-AU 17 73354234 73354234 single base substitution T A intron_variant MELA-AU 17 73354365 73354365 single base substitution A G intron_variant MELA-AU 17 73355361 73355361 single base substitution A G intron_variant MELA-AU 17 73355451 73355451 single base substitution G A intron_variant MELA-AU 17 73356061 73356061 single base substitution A T intron_variant MELA-AU 17 73357971 73357971 single base substitution G A intron_variant MELA-AU 17 73359037 73359037 single base substitution G A intron_variant MELA-AU 17 73359295 73359295 single base substitution G A intron_variant MELA-AU 17 73359360 73359360 single base substitution G A intron_variant MELA-AU 17 73360087 73360087 single base substitution G A intron_variant MELA-AU 17 73360797 73360797 single base substitution G A intron_variant MELA-AU 17 73361063 73361063 single base substitution C T intron_variant MELA-AU 17 73362655 73362655 single base substitution G A intron_variant MELA-AU 17 73362771 73362771 single base substitution G A intron_variant MELA-AU 17 73362950 73362950 single base substitution G A intron_variant MELA-AU 17 73363260 73363260 deletion of <=200bp C - intron_variant MELA-AU 17 73364185 73364185 single base substitution G A intron_variant MELA-AU 17 73364719 73364719 single base substitution G T intron_variant MELA-AU 17 73365096 73365096 single base substitution T A intron_variant MELA-AU 17 73365285 73365285 single base substitution G A intron_variant MELA-AU 17 73365628 73365628 single base substitution G C intron_variant MELA-AU 17 73365934 73365934 single base substitution C T intron_variant MELA-AU 17 73366629 73366629 single base substitution A G intron_variant MELA-AU 17 73367496 73367496 single base substitution G A intron_variant MELA-AU 17 73367609 73367609 single base substitution G A intron_variant MELA-AU 17 73367806 73367806 single base substitution A T intron_variant MELA-AU 17 73368462 73368462 single base substitution A G intron_variant MELA-AU 17 73368763 73368763 single base substitution G A intron_variant MELA-AU 17 73369007 73369007 single base substitution G A intron_variant MELA-AU 17 73369313 73369313 single base substitution G A intron_variant MELA-AU 17 73369330 73369330 single base substitution G A intron_variant MELA-AU 17 73370249 73370249 single base substitution G A intron_variant MELA-AU 17 73370306 73370306 single base substitution G A intron_variant MELA-AU 17 73370795 73370795 single base substitution G A intron_variant MELA-AU 17 73371224 73371224 single base substitution A C intron_variant MELA-AU 17 73371755 73371755 single base substitution G A intron_variant MELA-AU 17 73371791 73371791 single base substitution C A intron_variant MELA-AU 17 73372013 73372013 single base substitution G A intron_variant MELA-AU 17 73372345 73372345 single base substitution G A intron_variant MELA-AU 17 73372527 73372527 single base substitution G A intron_variant MELA-AU 17 73373914 73373914 single base substitution G A intron_variant MELA-AU 17 73374591 73374591 single base substitution G A intron_variant MELA-AU 17 73374730 73374730 single base substitution A G intron_variant MELA-AU 17 73374862 73374862 single base substitution A T intron_variant MELA-AU 17 73376135 73376135 single base substitution C T intron_variant MELA-AU 17 73376343 73376343 single base substitution G T intron_variant MELA-AU 17 73376804 73376804 single base substitution C T intron_variant MELA-AU 17 73377193 73377193 single base substitution G A intron_variant MELA-AU 17 73377270 73377270 single base substitution G A intron_variant MELA-AU 17 73378395 73378395 single base substitution G A intron_variant MELA-AU 17 73378782 73378782 single base substitution A C downstream_gene_variant MELA-AU 17 73378782 73378782 single base substitution A C intron_variant MELA-AU 17 73378804 73378804 single base substitution A G downstream_gene_variant MELA-AU 17 73378804 73378804 single base substitution A G intron_variant MELA-AU 17 73379104 73379104 single base substitution T C downstream_gene_variant MELA-AU 17 73379104 73379104 single base substitution T C intron_variant MELA-AU 17 73379774 73379774 single base substitution T C downstream_gene_variant MELA-AU 17 73379774 73379774 single base substitution T C intron_variant MELA-AU 17 73380676 73380677 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73380676 73380677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 73381377 73381377 single base substitution G A downstream_gene_variant MELA-AU 17 73381377 73381377 single base substitution G A intron_variant MELA-AU 17 73381647 73381647 single base substitution G A downstream_gene_variant MELA-AU 17 73381647 73381647 single base substitution G A intron_variant MELA-AU 17 73381752 73381752 single base substitution G A downstream_gene_variant MELA-AU 17 73381752 73381752 single base substitution G A intron_variant MELA-AU 17 73382389 73382389 single base substitution G A downstream_gene_variant MELA-AU 17 73382389 73382389 single base substitution G A intron_variant MELA-AU 17 73382712 73382712 single base substitution G A downstream_gene_variant MELA-AU 17 73382712 73382712 single base substitution G A intron_variant MELA-AU 17 73384114 73384114 single base substitution A G intron_variant MELA-AU 17 73384422 73384422 single base substitution G A intron_variant MELA-AU 17 73384673 73384673 single base substitution G A downstream_gene_variant MELA-AU 17 73384673 73384673 single base substitution G A intron_variant MELA-AU 17 73385785 73385785 single base substitution G A downstream_gene_variant MELA-AU 17 73385785 73385785 single base substitution G A intron_variant MELA-AU 17 73386429 73386429 single base substitution A G downstream_gene_variant MELA-AU 17 73386429 73386429 single base substitution A G intron_variant MELA-AU 17 73387358 73387358 single base substitution T C downstream_gene_variant MELA-AU 17 73387358 73387358 single base substitution T C intron_variant MELA-AU 17 73388091 73388091 single base substitution G A downstream_gene_variant MELA-AU 17 73388091 73388091 single base substitution G A intron_variant MELA-AU 17 73389184 73389184 single base substitution A T downstream_gene_variant MELA-AU 17 73389184 73389184 single base substitution A T intron_variant MELA-AU 17 73389320 73389320 single base substitution C A downstream_gene_variant MELA-AU 17 73389320 73389320 single base substitution C A intron_variant MELA-AU 17 73391512 73391512 single base substitution C T intron_variant MELA-AU 17 73391512 73391512 single base substitution C T upstream_gene_variant MELA-AU 17 73392799 73392799 single base substitution A G intron_variant MELA-AU 17 73392799 73392799 single base substitution A G upstream_gene_variant MELA-AU 17 73392908 73392908 single base substitution G A intron_variant MELA-AU 17 73392908 73392908 single base substitution G A upstream_gene_variant MELA-AU 17 73393298 73393298 single base substitution G A intron_variant MELA-AU 17 73393298 73393298 single base substitution G A upstream_gene_variant MELA-AU 17 73394249 73394249 single base substitution G A intron_variant MELA-AU 17 73394249 73394249 single base substitution G A upstream_gene_variant MELA-AU 17 73395973 73395973 single base substitution G A intron_variant MELA-AU 17 73396845 73396845 single base substitution C T intron_variant MELA-AU 17 73398106 73398106 single base substitution G A intron_variant MELA-AU 17 73398976 73398976 single base substitution G A intron_variant MELA-AU 17 73400257 73400272 deletion of <=200bp AAGCAGGCACAGAAGC - intron_variant MELA-AU 17 73400398 73400398 single base substitution G A intron_variant MELA-AU 17 73401825 73401825 single base substitution C T upstream_gene_variant MELA-AU 17 73401923 73401923 single base substitution C T upstream_gene_variant MELA-AU 17 73401984 73401984 single base substitution G A upstream_gene_variant MELA-AU 17 73402375 73402394 deletion of <=200bp TGAGGAAGCTAAAAAAATGG - upstream_gene_variant MELA-AU 17 73402376 73402376 single base substitution G A upstream_gene_variant MELA-AU 17 73403101 73403101 single base substitution G A upstream_gene_variant MELA-AU 17 73403214 73403214 single base substitution C T upstream_gene_variant MELA-AU 17 73403651 73403651 single base substitution C T upstream_gene_variant MELA-AU 17 73403810 73403810 single base substitution G A upstream_gene_variant MELA-AU 17 73404326 73404326 single base substitution C T upstream_gene_variant MELA-AU 17 73404498 73404498 single base substitution G A upstream_gene_variant MELA-AU 17 73404813 73404813 single base substitution G A upstream_gene_variant MELA-AU 17 73405011 73405011 single base substitution C T upstream_gene_variant MELA-AU 17 73405072 73405072 single base substitution G A upstream_gene_variant MELA-AU 17 73405307 73405307 single base substitution G A upstream_gene_variant MELA-AU 17 73405574 73405574 single base substitution T A upstream_gene_variant MELA-AU 17 73406023 73406023 single base substitution C T upstream_gene_variant MELA-AU 17 73406132 73406132 single base substitution C T upstream_gene_variant MELA-AU 17 73406247 73406247 single base substitution C T upstream_gene_variant ORCA-IN 17 73319891 73319891 insertion of <=200bp - C intron_variant ORCA-IN 17 73319891 73319891 insertion of <=200bp - C upstream_gene_variant ORCA-IN 17 73360544 73360544 single base substitution C G intron_variant ORCA-IN 17 73362777 73362777 single base substitution G A intron_variant OV-AU 17 73313562 73313562 single base substitution A T downstream_gene_variant OV-AU 17 73324259 73324259 single base substitution G C intron_variant OV-AU 17 73324259 73324259 single base substitution G C upstream_gene_variant OV-AU 17 73342464 73342464 single base substitution C A intron_variant OV-AU 17 73354801 73354801 single base substitution A C intron_variant OV-AU 17 73361204 73361204 single base substitution C G intron_variant OV-AU 17 73364366 73364366 single base substitution G C intron_variant OV-AU 17 73370314 73370314 single base substitution G A intron_variant OV-AU 17 73385790 73385790 single base substitution G T downstream_gene_variant OV-AU 17 73385790 73385790 single base substitution G T intron_variant OV-AU 17 73394851 73394851 single base substitution C G intron_variant OV-AU 17 73394851 73394851 single base substitution C G upstream_gene_variant OV-AU 17 73405552 73405552 single base substitution G C upstream_gene_variant PACA-AU 17 73310927 73310927 single base substitution A G downstream_gene_variant PACA-AU 17 73311248 73311248 single base substitution C G downstream_gene_variant PACA-AU 17 73312565 73312565 single base substitution A G downstream_gene_variant PACA-AU 17 73312566 73312566 single base substitution C T downstream_gene_variant PACA-AU 17 73327554 73327554 single base substitution C T intron_variant PACA-AU 17 73331224 73331224 deletion of <=200bp G - intron_variant PACA-AU 17 73333952 73333952 single base substitution T C intron_variant PACA-AU 17 73338584 73338584 single base substitution C G intron_variant PACA-AU 17 73340160 73340160 single base substitution G A intron_variant PACA-AU 17 73353753 73353753 single base substitution G C intron_variant PACA-AU 17 73357531 73357531 single base substitution C G intron_variant PACA-AU 17 73368271 73368271 deletion of <=200bp C - intron_variant PACA-AU 17 73371562 73371562 single base substitution C T intron_variant PACA-AU 17 73379829 73379829 single base substitution A T downstream_gene_variant PACA-AU 17 73379829 73379829 single base substitution A T intron_variant PACA-AU 17 73385953 73385953 single base substitution A C downstream_gene_variant PACA-AU 17 73385953 73385953 single base substitution A C intron_variant PACA-AU 17 73399016 73399016 single base substitution C T intron_variant PACA-AU 17 73402643 73402643 single base substitution G C upstream_gene_variant PACA-CA 17 73309504 73309504 single base substitution C T downstream_gene_variant PACA-CA 17 73312149 73312149 single base substitution C A downstream_gene_variant PACA-CA 17 73319904 73319904 single base substitution A T intron_variant PACA-CA 17 73319904 73319904 single base substitution A T upstream_gene_variant PACA-CA 17 73323095 73323095 single base substitution A C intron_variant PACA-CA 17 73323095 73323095 single base substitution A C upstream_gene_variant PACA-CA 17 73323731 73323731 single base substitution C T intron_variant PACA-CA 17 73323731 73323731 single base substitution C T upstream_gene_variant PACA-CA 17 73325159 73325159 single base substitution C T intron_variant PACA-CA 17 73325159 73325159 single base substitution C T upstream_gene_variant PACA-CA 17 73330409 73330409 single base substitution G A intron_variant PACA-CA 17 73332332 73332332 single base substitution G C intron_variant PACA-CA 17 73359530 73359530 single base substitution T C intron_variant PACA-CA 17 73363596 73363596 single base substitution G C intron_variant PACA-CA 17 73364105 73364105 single base substitution C T intron_variant PACA-CA 17 73377636 73377636 single base substitution T C intron_variant PACA-CA 17 73382116 73382116 single base substitution T A downstream_gene_variant PACA-CA 17 73382116 73382116 single base substitution T A intron_variant PACA-CA 17 73382239 73382239 single base substitution G A downstream_gene_variant PACA-CA 17 73382239 73382239 single base substitution G A intron_variant PACA-CA 17 73382319 73382319 single base substitution C T downstream_gene_variant PACA-CA 17 73382319 73382319 single base substitution C T intron_variant PACA-CA 17 73385224 73385224 single base substitution G T downstream_gene_variant PACA-CA 17 73385224 73385224 single base substitution G T intron_variant PACA-CA 17 73395728 73395728 single base substitution G A intron_variant PACA-CA 17 73399236 73399236 insertion of <=200bp - T intron_variant PACA-CA 17 73399955 73399955 single base substitution G A intron_variant PACA-CA 17 73405374 73405374 single base substitution G C upstream_gene_variant PACA-CA 17 73405573 73405573 single base substitution G A upstream_gene_variant PAEN-AU 17 73325022 73325022 insertion of <=200bp - AAAT intron_variant PAEN-AU 17 73325022 73325022 insertion of <=200bp - AAAT upstream_gene_variant PAEN-AU 17 73351803 73351803 single base substitution G A intron_variant PAEN-AU 17 73371182 73371182 single base substitution T G intron_variant PAEN-AU 17 73390471 73390471 single base substitution G C intron_variant PAEN-AU 17 73390471 73390471 single base substitution G C upstream_gene_variant PAEN-AU 17 73395300 73395301 deletion of <=200bp TG - intron_variant PAEN-AU 17 73399324 73399324 single base substitution T C intron_variant PAEN-AU 17 73401595 73401595 single base substitution T C 5_prime_UTR_variant PAEN-AU 17 73401595 73401595 single base substitution T C exon_variant PAEN-AU 17 73401595 73401595 single base substitution T C upstream_gene_variant PAEN-IT 17 73335827 73335827 single base substitution C A intron_variant PAEN-IT 17 73348443 73348443 single base substitution G A intron_variant PAEN-IT 17 73403086 73403086 single base substitution G C upstream_gene_variant PBCA-DE 17 73315256 73315256 single base substitution G A 3_prime_UTR_variant PBCA-DE 17 73315256 73315256 single base substitution G A downstream_gene_variant PBCA-DE 17 73315256 73315256 single base substitution G A intron_variant PBCA-DE 17 73323128 73323128 single base substitution T C intron_variant PBCA-DE 17 73323128 73323128 single base substitution T C upstream_gene_variant PBCA-DE 17 73330499 73330499 single base substitution G T intron_variant PBCA-DE 17 73353956 73353956 single base substitution C T intron_variant PBCA-DE 17 73361889 73361889 single base substitution G A intron_variant PBCA-DE 17 73371159 73371159 insertion of <=200bp - T intron_variant PBCA-DE 17 73375253 73375253 insertion of <=200bp - T intron_variant PBCA-DE 17 73382235 73382235 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 73382235 73382235 insertion of <=200bp - T intron_variant PBCA-DE 17 73406479 73406479 single base substitution G A upstream_gene_variant PRAD-CA 17 73312114 73312114 single base substitution C T downstream_gene_variant PRAD-CA 17 73326035 73326035 single base substitution C T intron_variant PRAD-CA 17 73326035 73326035 single base substitution C T upstream_gene_variant PRAD-CA 17 73333952 73333952 single base substitution T C intron_variant PRAD-CA 17 73344638 73344638 single base substitution G C intron_variant PRAD-CA 17 73348971 73348971 single base substitution T A intron_variant PRAD-CA 17 73356328 73356328 single base substitution T C intron_variant PRAD-CA 17 73360185 73360185 single base substitution C A intron_variant PRAD-CA 17 73373303 73373303 single base substitution G A intron_variant PRAD-CA 17 73382045 73382045 single base substitution T G downstream_gene_variant PRAD-CA 17 73382045 73382045 single base substitution T G intron_variant PRAD-UK 17 73330264 73330264 single base substitution T A intron_variant PRAD-UK 17 73337387 73337387 single base substitution G A intron_variant PRAD-UK 17 73361761 73361761 single base substitution G T intron_variant PRAD-UK 17 73384176 73384176 insertion of <=200bp - T intron_variant PRAD-UK 17 73395300 73395301 deletion of <=200bp TG - intron_variant PRAD-US 17 73317762 73317762 single base substitution C T downstream_gene_variant PRAD-US 17 73317762 73317762 single base substitution C T exon_variant PRAD-US 17 73317762 73317762 single base substitution C T intron_variant PRAD-US 17 73317762 73317762 single base substitution C T missense_variant R108Q 323G>A PRAD-US 17 73317762 73317762 single base substitution C T missense_variant R149Q 446G>A PRAD-US 17 73317762 73317762 single base substitution C T missense_variant R24Q 71G>A RECA-EU 17 73318122 73318122 single base substitution C T intron_variant RECA-EU 17 73318122 73318122 single base substitution C T upstream_gene_variant RECA-EU 17 73329453 73329453 single base substitution G A intron_variant RECA-EU 17 73329886 73329886 single base substitution C T intron_variant RECA-EU 17 73342197 73342197 single base substitution G C intron_variant RECA-EU 17 73346912 73346912 single base substitution G A intron_variant RECA-EU 17 73352980 73352980 single base substitution T A intron_variant RECA-EU 17 73364619 73364619 single base substitution G T intron_variant RECA-EU 17 73366349 73366349 single base substitution C T intron_variant RECA-EU 17 73369164 73369164 single base substitution C T intron_variant RECA-EU 17 73369169 73369169 single base substitution A G intron_variant RECA-EU 17 73372464 73372464 single base substitution T C intron_variant RECA-EU 17 73380088 73380088 single base substitution A G downstream_gene_variant RECA-EU 17 73380088 73380088 single base substitution A G intron_variant RECA-EU 17 73381140 73381140 single base substitution G A downstream_gene_variant RECA-EU 17 73381140 73381140 single base substitution G A intron_variant RECA-EU 17 73394722 73394722 single base substitution A T intron_variant RECA-EU 17 73394722 73394722 single base substitution A T upstream_gene_variant RECA-EU 17 73397964 73397964 single base substitution A C intron_variant SKCA-BR 17 73309483 73309483 single base substitution C T downstream_gene_variant SKCA-BR 17 73310583 73310583 single base substitution G A downstream_gene_variant SKCA-BR 17 73310691 73310691 single base substitution G A downstream_gene_variant SKCA-BR 17 73310746 73310746 single base substitution G A downstream_gene_variant SKCA-BR 17 73311778 73311778 insertion of <=200bp - TCAC downstream_gene_variant SKCA-BR 17 73312473 73312473 insertion of <=200bp - AGGTGCAGTAGCGTATGCCTGTAGTCCCAGCTACTTG downstream_gene_variant SKCA-BR 17 73312556 73312556 single base substitution T C downstream_gene_variant SKCA-BR 17 73312565 73312565 single base substitution A G downstream_gene_variant SKCA-BR 17 73312566 73312566 single base substitution C T downstream_gene_variant SKCA-BR 17 73313126 73313126 single base substitution G A downstream_gene_variant SKCA-BR 17 73313326 73313326 single base substitution G A downstream_gene_variant SKCA-BR 17 73314345 73314345 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 73314345 73314345 single base substitution G A downstream_gene_variant SKCA-BR 17 73314854 73314854 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 73314854 73314854 single base substitution A C downstream_gene_variant SKCA-BR 17 73314854 73314854 single base substitution A C missense_variant C39W 117T>G SKCA-BR 17 73315397 73315399 deletion of <=200bp TAA - 3_prime_UTR_variant SKCA-BR 17 73315397 73315399 deletion of <=200bp TAA - downstream_gene_variant SKCA-BR 17 73315397 73315399 deletion of <=200bp TAA - intron_variant SKCA-BR 17 73315730 73315730 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 73315730 73315730 single base substitution C T downstream_gene_variant SKCA-BR 17 73315730 73315730 single base substitution C T intron_variant SKCA-BR 17 73317250 73317259 deletion of <=200bp CTTTTTTTTT - downstream_gene_variant SKCA-BR 17 73317250 73317259 deletion of <=200bp CTTTTTTTTT - intron_variant SKCA-BR 17 73320615 73320617 deletion of <=200bp TTG - intron_variant SKCA-BR 17 73320615 73320617 deletion of <=200bp TTG - upstream_gene_variant SKCA-BR 17 73320616 73320617 deletion of <=200bp TG - intron_variant SKCA-BR 17 73320616 73320617 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 17 73320617 73320617 single base substitution G T intron_variant SKCA-BR 17 73320617 73320617 single base substitution G T upstream_gene_variant SKCA-BR 17 73321705 73321705 single base substitution G A intron_variant SKCA-BR 17 73321705 73321705 single base substitution G A upstream_gene_variant SKCA-BR 17 73323154 73323154 insertion of <=200bp - CT intron_variant SKCA-BR 17 73323154 73323154 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 17 73324798 73324798 single base substitution T G intron_variant SKCA-BR 17 73324798 73324798 single base substitution T G upstream_gene_variant SKCA-BR 17 73325021 73325021 insertion of <=200bp - AAAAT intron_variant SKCA-BR 17 73325021 73325021 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 17 73328374 73328374 single base substitution G A intron_variant SKCA-BR 17 73330282 73330282 single base substitution C T intron_variant SKCA-BR 17 73331499 73331499 single base substitution G A intron_variant SKCA-BR 17 73333945 73333945 insertion of <=200bp - CCTACTTTTA intron_variant SKCA-BR 17 73333946 73333946 insertion of <=200bp - CTACTTT intron_variant SKCA-BR 17 73333949 73333949 insertion of <=200bp - CTTT intron_variant SKCA-BR 17 73333951 73333951 single base substitution A T intron_variant SKCA-BR 17 73333952 73333952 single base substitution T C intron_variant SKCA-BR 17 73338580 73338580 single base substitution G A intron_variant SKCA-BR 17 73338945 73338945 single base substitution T G intron_variant SKCA-BR 17 73339130 73339130 insertion of <=200bp - CAAAAAAAAA intron_variant SKCA-BR 17 73339447 73339447 single base substitution C A intron_variant SKCA-BR 17 73343767 73343767 single base substitution T G intron_variant SKCA-BR 17 73344976 73344976 single base substitution C T intron_variant SKCA-BR 17 73349988 73349988 single base substitution G A intron_variant SKCA-BR 17 73350580 73350580 single base substitution C T intron_variant SKCA-BR 17 73351681 73351681 single base substitution G A intron_variant SKCA-BR 17 73353575 73353575 single base substitution A T intron_variant SKCA-BR 17 73354995 73354995 insertion of <=200bp - TATATAA intron_variant SKCA-BR 17 73354997 73354997 single base substitution A T intron_variant SKCA-BR 17 73355243 73355246 deletion of <=200bp CAAA - intron_variant SKCA-BR 17 73355480 73355480 single base substitution G A intron_variant SKCA-BR 17 73356059 73356060 deletion of <=200bp TA - intron_variant SKCA-BR 17 73356061 73356061 single base substitution A T intron_variant SKCA-BR 17 73357023 73357023 single base substitution T G intron_variant SKCA-BR 17 73358255 73358255 single base substitution G A intron_variant SKCA-BR 17 73361016 73361016 single base substitution G A intron_variant SKCA-BR 17 73362581 73362581 insertion of <=200bp - CAA intron_variant SKCA-BR 17 73363337 73363337 single base substitution G A intron_variant SKCA-BR 17 73365731 73365731 single base substitution T G intron_variant SKCA-BR 17 73366587 73366587 single base substitution A T intron_variant SKCA-BR 17 73366816 73366816 single base substitution G A intron_variant SKCA-BR 17 73367361 73367361 single base substitution G A intron_variant SKCA-BR 17 73367387 73367388 deletion of <=200bp AT - intron_variant SKCA-BR 17 73368270 73368270 single base substitution A C intron_variant SKCA-BR 17 73369310 73369310 single base substitution A C intron_variant SKCA-BR 17 73371487 73371487 single base substitution G T intron_variant SKCA-BR 17 73372601 73372601 insertion of <=200bp - CA intron_variant SKCA-BR 17 73372970 73372970 single base substitution G A intron_variant SKCA-BR 17 73374464 73374464 insertion of <=200bp - AAAAC intron_variant SKCA-BR 17 73375481 73375481 insertion of <=200bp - TA intron_variant SKCA-BR 17 73375883 73375883 single base substitution T C intron_variant SKCA-BR 17 73376427 73376427 insertion of <=200bp - TAA intron_variant SKCA-BR 17 73377376 73377376 single base substitution G A intron_variant SKCA-BR 17 73380874 73380874 single base substitution G A downstream_gene_variant SKCA-BR 17 73380874 73380874 single base substitution G A intron_variant SKCA-BR 17 73383224 73383224 single base substitution G A downstream_gene_variant SKCA-BR 17 73383224 73383224 single base substitution G A intron_variant SKCA-BR 17 73383532 73383533 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 17 73383532 73383533 deletion of <=200bp TA - intron_variant SKCA-BR 17 73385530 73385530 single base substitution A G downstream_gene_variant SKCA-BR 17 73385530 73385530 single base substitution A G intron_variant SKCA-BR 17 73385783 73385783 single base substitution C G downstream_gene_variant SKCA-BR 17 73385783 73385783 single base substitution C G intron_variant SKCA-BR 17 73393986 73393986 single base substitution G A intron_variant SKCA-BR 17 73393986 73393986 single base substitution G A upstream_gene_variant SKCA-BR 17 73395887 73395887 single base substitution A G intron_variant SKCA-BR 17 73397645 73397645 single base substitution A G intron_variant SKCA-BR 17 73400375 73400375 single base substitution G T intron_variant SKCA-BR 17 73400400 73400400 single base substitution A G intron_variant SKCA-BR 17 73400892 73400892 single base substitution T A intron_variant SKCA-BR 17 73401011 73401011 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 73401011 73401011 single base substitution G A intron_variant SKCA-BR 17 73403112 73403114 deletion of <=200bp TTG - upstream_gene_variant SKCA-BR 17 73403113 73403114 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 17 73404850 73404850 single base substitution C T upstream_gene_variant SKCA-BR 17 73406132 73406136 deletion of <=200bp CGTAT - upstream_gene_variant SKCM-US 17 73317851 73317851 single base substitution G A downstream_gene_variant SKCM-US 17 73317851 73317851 single base substitution G A exon_variant SKCM-US 17 73317851 73317851 single base substitution G A intron_variant SKCM-US 17 73317851 73317851 single base substitution G A synonymous_variant F119F 357C>T SKCM-US 17 73317851 73317851 single base substitution G A synonymous_variant F78F 234C>T SKCM-US 17 73317851 73317851 single base substitution G A upstream_gene_variant SKCM-US 17 73322082 73322082 single base substitution G A exon_variant SKCM-US 17 73322082 73322082 single base substitution G A intron_variant SKCM-US 17 73322082 73322082 single base substitution G A missense_variant P66S 196C>T SKCM-US 17 73322082 73322082 single base substitution G A upstream_gene_variant SKCM-US 17 73389691 73389691 deletion of <=200bp A - exon_variant SKCM-US 17 73389691 73389691 deletion of <=200bp A - frameshift_variant Y7 STAD-US 17 73316454 73316454 single base substitution C T 3_prime_UTR_variant STAD-US 17 73316454 73316454 single base substitution C T downstream_gene_variant STAD-US 17 73316454 73316454 single base substitution C T exon_variant STAD-US 17 73316454 73316454 single base substitution C T intron_variant STAD-US 17 73316454 73316454 single base substitution C T missense_variant V176I 526G>A STAD-US 17 73316454 73316454 single base substitution C T missense_variant V217I 649G>A STAD-US 17 73316467 73316467 deletion of <=200bp G - downstream_gene_variant STAD-US 17 73316467 73316467 deletion of <=200bp G - exon_variant STAD-US 17 73316467 73316467 deletion of <=200bp G - frameshift_variant P156 STAD-US 17 73316467 73316467 deletion of <=200bp G - frameshift_variant P171 STAD-US 17 73316467 73316467 deletion of <=200bp G - frameshift_variant P212 STAD-US 17 73316467 73316467 deletion of <=200bp G - intron_variant STAD-US 17 73389634 73389634 single base substitution T C exon_variant STAD-US 17 73389634 73389634 single base substitution T C missense_variant K26E 76A>G STAD-US 17 73389634 73389634 single base substitution T C splice_region_variant STAD-US 17 73389691 73389691 single base substitution A C exon_variant STAD-US 17 73389691 73389691 single base substitution A C missense_variant Y7D 19T>G UCEC-US 17 73317858 73317858 single base substitution T C downstream_gene_variant UCEC-US 17 73317858 73317858 single base substitution T C exon_variant UCEC-US 17 73317858 73317858 single base substitution T C intron_variant UCEC-US 17 73317858 73317858 single base substitution T C missense_variant K117R 350A>G UCEC-US 17 73317858 73317858 single base substitution T C missense_variant K76R 227A>G UCEC-US 17 73317858 73317858 single base substitution T C upstream_gene_variant UCEC-US 17 73322034 73322034 single base substitution C T exon_variant UCEC-US 17 73322034 73322034 single base substitution C T intron_variant UCEC-US 17 73322034 73322034 single base substitution C T missense_variant A82T 244G>A UCEC-US 17 73322034 73322034 single base substitution C T upstream_gene_variant UCEC-US 17 73322040 73322040 single base substitution C T exon_variant UCEC-US 17 73322040 73322040 single base substitution C T intron_variant UCEC-US 17 73322040 73322040 single base substitution C T missense_variant D80N 238G>A UCEC-US 17 73322040 73322040 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 TCGA-BP-4329-01 COSM3362360 c.553G>A p.V185I Substitution - Missense 17:75320469-75320469 - TCGA-24-2024-01 COSM70974 c.390G>C p.E130D Substitution - Missense 17:75321737-75321737 - QC2-15-T2 COSM5652511 c.497A>T p.D166V Substitution - Missense 17:75320525-75320525 - TCGA-13-0793-01 COSM82159 c.555C>T p.V185V Substitution - coding silent 17:75320467-75320467 - PD4937a COSM161385 c.283T>G p.F95V Substitution - Missense 17:75325914-75325914 - TCGA-AA-A00N-01 COSM275366 c.467A>G p.Q156R Substitution - Missense 17:75321660-75321660 - TCGA-BR-4257-01 COSM4069544 c.76A>G p.K26E Substitution - Missense 17:75393553-75393553 - BN50 COSM1610755 c.414A>G p.T138T Substitution - coding silent 17:75321713-75321713 - TCGA-B5-A11H-01 COSM984352 c.350A>G p.K117R Substitution - Missense 17:75321777-75321777 - TCGA-CD-8531-01 COSM4069545 c.19T>G p.Y7D Substitution - Missense 17:75393610-75393610 - PD13424a COSM5796151 c.177-9C>T p.? Unknown 17:75326029-75326029 - ME009T COSM223906 c.313G>A p.V105M Substitution - Missense 17:75321814-75321814 - TCGA-D1-A15X-01 COSM984353 c.244G>A p.A82T Substitution - Missense 17:75325953-75325953 - TCGA-25-1628-01 COSM77802 c.27C>A p.F9L Substitution - Missense 17:75393602-75393602 - TCGA-FW-A3R5-06 COSM3890395 c.196C>T p.P66S Substitution - Missense 17:75326001-75326001 - HCC60 COSM1610755 c.414A>G p.T138T Substitution - coding silent 17:75321713-75321713 - TCGA-BT-A3PJ-01 COSM3796081 c.573C>G p.P191P Substitution - coding silent 17:75320449-75320449 - 1517_CLM COSM5755131 c.136G>A p.G46S Substitution - Missense 17:75332740-75332740 - 1517_PT COSM5755131 c.136G>A p.G46S Substitution - Missense 17:75332740-75332740 - PD13424a COSM5783498 c.297C>T p.V99V Substitution - coding silent 17:75325900-75325900 - HCC60T COSM1610755 c.414A>G p.T138T Substitution - coding silent 17:75321713-75321713 - tumor_4166706 COSM3927584 c.181T>G p.F61V Substitution - Missense 17:75326016-75326016 - YULLON COSM1710774 c.335G>A p.R112Q Substitution - Missense 17:75321792-75321792 - TCGA-AD-6964-01 COSM1385961 c.346G>A p.G116R Substitution - Missense 17:75321781-75321781 - BN50T COSM1610755 c.414A>G p.T138T Substitution - coding silent 17:75321713-75321713 - tumor_4166706 COSM3927583 c.488C>A p.A163D Substitution - Missense 17:75320534-75320534 - 2292384 COSM4610335 c.469C>T p.Q157* Substitution - Nonsense 17:75320553-75320553 - TCGA-BS-A0UV-01 COSM984354 c.238G>A p.D80N Substitution - Missense 17:75325959-75325959 - B101 COSM1750306 c.36T>A p.T12T Substitution - coding silent 17:75393593-75393593 - 5 COSM4166683 c.606C>T p.T202T Substitution - coding silent 17:75320416-75320416 - TCGA-EJ-8469-01 COSM3783102 c.446G>A p.R149Q Substitution - Missense 17:75321681-75321681 - HCC88 COSM3717597 c.598G>A p.G200R Substitution - Missense 17:75320424-75320424 - SNU-C2B COSM2978846 c.636delC p.V213fs*1 Deletion - Frameshift 17:75320386-75320386 - pfg103T COSM2978847 c.619C>T p.R207C Substitution - Missense 17:75320403-75320403 - TCGA-BR-A4QL-01 COSM4069543 c.649G>A p.V217I Substitution - Missense 17:75320373-75320373 - CSCC-60-T COSM4497897 c.507C>T p.P169P Substitution - coding silent 17:75320515-75320515 - B101-Tumor COSM1750306 c.36T>A p.T12T Substitution - coding silent 17:75393593-75393593 - ESO-2472 COSM1253627 c.138C>T p.G46G Substitution - coding silent 17:75332738-75332738 - TCGA-EE-A29E-06 COSM3522104 c.357C>T p.F119F Substitution - coding silent 17:75321770-75321770 - PD4100a COSM161386 c.531C>T p.F177F Substitution - coding silent 17:75320491-75320491 - PD13424a COSM5783499 c.177-10C>T p.? Unknown 17:75326030-75326030 - H1155 COSM1195692 c.275C>T p.P92L Substitution - Missense 17:75325922-75325922 - HCC88T COSM3717597 c.598G>A p.G200R Substitution - Missense 17:75320424-75320424 - CSCC-18-T COSM4551831 c.541G>A p.D181N Substitution - Missense 17:75320481-75320481 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.444356 17q24-q25 108355

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F95V c.283T>G 17 73321995 BRCA A C Missense p.I53R c.158T>G 17 73328799 LUAD A - Frameshift p.Y7Mfs*11 c.19delT 17 73389691 CM C A Missense p.G81V c.242G>T 17 73322036 COREAD C A Missense p.R179L c.536G>T 17 73316567 LUAD C A Missense p.V154L c.460G>T 17 73317748 LUAD C G Missense p.D113H c.337G>C 17 73317871 ALL C G Missense p.E130D c.390G>C 17 73317818 OV C T Missense p.R215Q c.644G>A 17 73316459 BRCA C T Missense p.V105M c.313G>A 17 73317895 CM C T Missense p.V185I c.553G>A 17 73316550 RCCC G A Synonymous p.F177F c.531C>T 17 73316572 BRCA G A Synonymous p.G46G c.138C>T 17 73328819 ESCA G A Synonymous p.V185V c.555C>T 17 73316548 OV G C Synonymous p.P191P c.573C>G 17 73316530 BLCA G T Missense p.F9L c.27C>A 17 73389683 OV G T Synonymous p.P212P c.636C>A 17 73316467 LUAD T A Missense p.Q201L c.602A>T 17 73316501 LUAD T C Missense p.K117R c.350A>G 17 73317858 UCEC T C Missense p.K26E c.76A>G 17 73389634 STAD