Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 8 22421834 22421834 + Silent SNP G G A TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr8:22421834G>A c.714G>A c.(712-714)acG>acA p.T238T BLCA 8 22412401 22412401 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 g.chr8:22412401C>T c.128C>T c.(127-129)tCc>tTc p.S43F BLCA 8 22412427 22412427 + Missense_Mutation SNP G G A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr8:22412427G>A c.154G>A c.(154-156)Gac>Aac p.D52N BLCA 8 22423915 22423915 + Silent SNP G G A TCGA-E7-A6ME-01A-22D-A32B-08 TCGA-E7-A6ME-10B-01D-A329-08 g.chr8:22423915G>A c.1008G>A c.(1006-1008)cgG>cgA p.R336R BLCA 8 22423940 22423940 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr8:22423940G>A c.1033G>A c.(1033-1035)Gat>Aat p.D345N BLCA 8 22423978 22423978 + Silent SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr8:22423978C>G c.1071C>G c.(1069-1071)gtC>gtG p.V357V BRCA 8 22414410 22414411 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr8:22414410_22414411insC c.403_404insC c.(403-405)gccfs p.A135fs BRCA 8 22419432 22419432 + Missense_Mutation SNP C C A TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 g.chr8:22419432C>A c.572C>A c.(571-573)aCa>aAa p.T191K BRCA 8 22424226 22424226 + Splice_Site SNP G G A TCGA-D8-A1JP-01A-11D-A13L-09 TCGA-D8-A1JP-10A-01D-A13O-09 g.chr8:22424226G>A c.1143G>A c.(1141-1143)aaG>aaA p.K381K BRCA 8 22428702 22428703 + Frame_Shift_Ins INS - - C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 g.chr8:22428702_22428703insC c.1711_1712insC c.(1711-1713)ttcfs p.F571fs CESC 8 22414398 22414398 + Missense_Mutation SNP G G T TCGA-EK-A2PK-01A-11D-A18J-09 TCGA-EK-A2PK-10A-01D-A18J-09 g.chr8:22414398G>T c.391G>T c.(391-393)Ggc>Tgc p.G131C CESC 8 22419414 22419414 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr8:22419414A>G c.554A>G c.(553-555)cAc>cGc p.H185R COAD 8 22412065 22412065 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:22412065G>A c.46G>A c.(46-48)Gac>Aac p.D16N COAD 8 22421827 22421827 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:22421827T>C c.707T>C c.(706-708)gTc>gCc p.V236A COAD 8 22429302 22429302 + Silent SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:22429302C>A c.1815C>A c.(1813-1815)tcC>tcA p.S605S COAD 8 22429908 22429908 + Missense_Mutation SNP G G C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr8:22429908G>C c.1903G>C c.(1903-1905)Gag>Cag p.E635Q COADREAD 8 22412065 22412065 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:22412065G>A c.46G>A c.(46-48)Gac>Aac p.D16N COADREAD 8 22414313 22414313 + Missense_Mutation SNP C C G TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr8:22414313C>G c.306C>G c.(304-306)aaC>aaG p.N102K COADREAD 8 22421827 22421827 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr8:22421827T>C c.707T>C c.(706-708)gTc>gCc p.V236A COADREAD 8 22429302 22429302 + Silent SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr8:22429302C>A c.1815C>A c.(1813-1815)tcC>tcA p.S605S COADREAD 8 22429908 22429908 + Missense_Mutation SNP G G C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr8:22429908G>C c.1903G>C c.(1903-1905)Gag>Cag p.E635Q HNSC 8 22429318 22429318 + Nonsense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr8:22429318C>T c.1831C>T c.(1831-1833)Cag>Tag p.Q611* HNSC 8 22432192 22432192 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr8:22432192G>T c.1967G>T c.(1966-1968)aGg>aTg p.R656M KICH 8 22426778 22426778 + Missense_Mutation SNP T T C TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr8:22426778T>C c.1423T>C c.(1423-1425)Ttc>Ctc p.F475L KIPAN 8 22423910 22423910 + Missense_Mutation SNP G G T TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr8:22423910G>T c.1003G>T c.(1003-1005)Gcc>Tcc p.A335S KIPAN 8 22426778 22426778 + Missense_Mutation SNP T T C TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr8:22426778T>C c.1423T>C c.(1423-1425)Ttc>Ctc p.F475L KIPAN 8 22432205 22432205 + Silent SNP C C T TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr8:22432205C>T c.1980C>T c.(1978-1980)ttC>ttT p.F660F KIRC 8 22423910 22423910 + Missense_Mutation SNP G G T TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr8:22423910G>T c.1003G>T c.(1003-1005)Gcc>Tcc p.A335S KIRP 8 22432205 22432205 + Silent SNP C C T TCGA-UZ-A9Q1-01A-11D-A42J-10 TCGA-UZ-A9Q1-10A-01D-A42M-10 g.chr8:22432205C>T c.1980C>T c.(1978-1980)ttC>ttT p.F660F LUAD 8 22412384 22412384 + Silent SNP G G C TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr8:22412384G>C c.111G>C c.(109-111)gtG>gtC p.V37V LUAD 8 22414373 22414373 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr8:22414373G>A c.366G>A c.(364-366)gaG>gaA p.E122E LUAD 8 22421801 22421801 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr8:22421801C>T c.681C>T c.(679-681)ctC>ctT p.L227L LUAD 8 22423981 22423981 + Silent SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr8:22423981C>T c.1074C>T c.(1072-1074)taC>taT p.Y358Y LUAD 8 22426700 22426700 + Missense_Mutation SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr8:22426700C>A c.1345C>A c.(1345-1347)Ccg>Acg p.P449T LUAD 8 22428517 22428517 + Missense_Mutation SNP A A T TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr8:22428517A>T c.1526A>T c.(1525-1527)tAc>tTc p.Y509F LUAD 8 22429318 22429318 + Nonsense_Mutation SNP C C T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr8:22429318C>T c.1831C>T c.(1831-1833)Cag>Tag p.Q611* LUSC 8 22414361 22414361 + Nonsense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr8:22414361G>A c.354G>A c.(352-354)tgG>tgA p.W118* LUSC 8 22414364 22414364 + Silent SNP C C T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chr8:22414364C>T c.357C>T c.(355-357)gtC>gtT p.V119V LUSC 8 22421834 22421834 + Silent SNP G G C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr8:22421834G>C c.714G>C c.(712-714)acG>acC p.T238T LUSC 8 22432219 22432219 + Missense_Mutation SNP G G T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 g.chr8:22432219G>T c.1994G>T c.(1993-1995)gGa>gTa p.G665V PRAD 8 22415644 22415644 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr8:22415644C>T c.417C>T c.(415-417)agC>agT p.S139S PRAD 8 22415670 22415670 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr8:22415670G>A c.443G>A c.(442-444)cGg>cAg p.R148Q PRAD 8 22426717 22426717 + Silent SNP G G A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 g.chr8:22426717G>A c.1362G>A c.(1360-1362)ctG>ctA p.L454L READ 8 22414313 22414313 + Missense_Mutation SNP C C G TCGA-AG-A032-01A-01W-A00E-09 TCGA-AG-A032-10A-01W-A00E-09 g.chr8:22414313C>G c.306C>G c.(304-306)aaC>aaG p.N102K SARC 8 22424623 22424623 + Missense_Mutation SNP G G T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 g.chr8:22424623G>T c.1240G>T c.(1240-1242)Gac>Tac p.D414Y SKCM 8 22414247 22414247 + Silent SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr8:22414247C>T c.240C>T c.(238-240)acC>acT p.T80T SKCM 8 22424682 22424682 + Nonsense_Mutation SNP T T G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr8:22424682T>G c.1299T>G c.(1297-1299)taT>taG p.Y433* SKCM 8 22428628 22428628 + Missense_Mutation SNP C C T TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr8:22428628C>T c.1637C>T c.(1636-1638)cCc>cTc p.P546L SKCM 8 22429260 22429260 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr8:22429260C>T c.1773C>T c.(1771-1773)tcC>tcT p.S591S SKCM 8 22429332 22429332 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr8:22429332C>T c.1845C>T c.(1843-1845)acC>acT p.T615T

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 8 22412084 22412084 single base substitution T A exon_variant BLCA-CN 8 22412084 22412084 single base substitution T A missense_variant L22H 65T>A BLCA-CN 8 22412084 22412084 single base substitution T A upstream_gene_variant BLCA-US 8 22398214 22398214 single base substitution C A upstream_gene_variant BLCA-US 8 22412401 22412401 single base substitution C T exon_variant BLCA-US 8 22412401 22412401 single base substitution C T intron_variant BLCA-US 8 22412401 22412401 single base substitution C T missense_variant S43F 128C>T BLCA-US 8 22412401 22412401 single base substitution C T upstream_gene_variant BOCA-FR 8 22403299 22403299 single base substitution A G intron_variant BOCA-FR 8 22422011 22422011 single base substitution G A downstream_gene_variant BOCA-FR 8 22422011 22422011 single base substitution G A exon_variant BOCA-FR 8 22422011 22422011 single base substitution G A missense_variant E265K 793G>A BOCA-FR 8 22422011 22422011 single base substitution G A upstream_gene_variant BRCA-EU 8 22399002 22399002 single base substitution C T upstream_gene_variant BRCA-EU 8 22399306 22399306 single base substitution A G upstream_gene_variant BRCA-EU 8 22399627 22399627 single base substitution C G upstream_gene_variant BRCA-EU 8 22399789 22399789 deletion of <=200bp C - upstream_gene_variant BRCA-EU 8 22400837 22400837 single base substitution A G upstream_gene_variant BRCA-EU 8 22406250 22406250 single base substitution C T intron_variant BRCA-EU 8 22406250 22406250 single base substitution C T upstream_gene_variant BRCA-EU 8 22411730 22411730 single base substitution G C intron_variant BRCA-EU 8 22411730 22411730 single base substitution G C upstream_gene_variant BRCA-EU 8 22414043 22414043 single base substitution C G downstream_gene_variant BRCA-EU 8 22414043 22414043 single base substitution C G intron_variant BRCA-EU 8 22414043 22414043 single base substitution C G upstream_gene_variant BRCA-EU 8 22414380 22414380 single base substitution G T downstream_gene_variant BRCA-EU 8 22414380 22414380 single base substitution G T exon_variant BRCA-EU 8 22414380 22414380 single base substitution G T missense_variant G125W 373G>T BRCA-EU 8 22414380 22414380 single base substitution G T missense_variant G61W 181G>T BRCA-EU 8 22414380 22414380 single base substitution G T missense_variant G79W 235G>T BRCA-EU 8 22414380 22414380 single base substitution G T upstream_gene_variant BRCA-EU 8 22416314 22416314 single base substitution A G downstream_gene_variant BRCA-EU 8 22416314 22416314 single base substitution A G intron_variant BRCA-EU 8 22416314 22416314 single base substitution A G upstream_gene_variant BRCA-EU 8 22417326 22417326 insertion of <=200bp - A downstream_gene_variant BRCA-EU 8 22417326 22417326 insertion of <=200bp - A intron_variant BRCA-EU 8 22417326 22417326 insertion of <=200bp - A upstream_gene_variant BRCA-EU 8 22417924 22417924 single base substitution G C downstream_gene_variant BRCA-EU 8 22417924 22417924 single base substitution G C intron_variant BRCA-EU 8 22417924 22417924 single base substitution G C upstream_gene_variant BRCA-EU 8 22418243 22418243 single base substitution T A downstream_gene_variant BRCA-EU 8 22418243 22418243 single base substitution T A intron_variant BRCA-EU 8 22418243 22418243 single base substitution T A upstream_gene_variant BRCA-EU 8 22419638 22419638 single base substitution G A downstream_gene_variant BRCA-EU 8 22419638 22419638 single base substitution G A intron_variant BRCA-EU 8 22419638 22419638 single base substitution G A upstream_gene_variant BRCA-EU 8 22420519 22420519 single base substitution C G downstream_gene_variant BRCA-EU 8 22420519 22420519 single base substitution C G intron_variant BRCA-EU 8 22420519 22420519 single base substitution C G upstream_gene_variant BRCA-EU 8 22422829 22422829 single base substitution G C 5_prime_UTR_variant BRCA-EU 8 22422829 22422829 single base substitution G C downstream_gene_variant BRCA-EU 8 22422829 22422829 single base substitution G C exon_variant BRCA-EU 8 22422829 22422829 single base substitution G C missense_variant D289H 865G>C BRCA-EU 8 22422829 22422829 single base substitution G C upstream_gene_variant BRCA-EU 8 22423186 22423186 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 8 22423186 22423186 single base substitution C T downstream_gene_variant BRCA-EU 8 22423186 22423186 single base substitution C T intron_variant BRCA-EU 8 22423186 22423186 single base substitution C T upstream_gene_variant BRCA-EU 8 22425666 22425666 single base substitution A G downstream_gene_variant BRCA-EU 8 22425666 22425666 single base substitution A G intron_variant BRCA-EU 8 22425666 22425666 single base substitution A G upstream_gene_variant BRCA-EU 8 22425789 22425789 single base substitution C A downstream_gene_variant BRCA-EU 8 22425789 22425789 single base substitution C A intron_variant BRCA-EU 8 22425789 22425789 single base substitution C A upstream_gene_variant BRCA-EU 8 22426701 22426701 single base substitution C T downstream_gene_variant BRCA-EU 8 22426701 22426701 single base substitution C T exon_variant BRCA-EU 8 22426701 22426701 single base substitution C T missense_variant P107L 320C>T BRCA-EU 8 22426701 22426701 single base substitution C T missense_variant P120L 359C>T BRCA-EU 8 22426701 22426701 single base substitution C T missense_variant P449L 1346C>T BRCA-EU 8 22426701 22426701 single base substitution C T missense_variant P60L 179C>T BRCA-EU 8 22426701 22426701 single base substitution C T upstream_gene_variant BRCA-EU 8 22426860 22426860 single base substitution T C downstream_gene_variant BRCA-EU 8 22426860 22426860 single base substitution T C intron_variant BRCA-EU 8 22426860 22426860 single base substitution T C upstream_gene_variant BRCA-EU 8 22428420 22428420 single base substitution C G downstream_gene_variant BRCA-EU 8 22428420 22428420 single base substitution C G intron_variant BRCA-EU 8 22428420 22428420 single base substitution C G splice_region_variant BRCA-EU 8 22428420 22428420 single base substitution C G upstream_gene_variant BRCA-EU 8 22428558 22428558 single base substitution G A downstream_gene_variant BRCA-EU 8 22428558 22428558 single base substitution G A exon_variant BRCA-EU 8 22428558 22428558 single base substitution G A missense_variant D134N 400G>A BRCA-EU 8 22428558 22428558 single base substitution G A missense_variant D181N 541G>A BRCA-EU 8 22428558 22428558 single base substitution G A missense_variant D194N 580G>A BRCA-EU 8 22428558 22428558 single base substitution G A missense_variant D34N 100G>A BRCA-EU 8 22428558 22428558 single base substitution G A missense_variant D523N 1567G>A BRCA-EU 8 22428558 22428558 single base substitution G A upstream_gene_variant BRCA-EU 8 22428560 22428560 single base substitution C A downstream_gene_variant BRCA-EU 8 22428560 22428560 single base substitution C A exon_variant BRCA-EU 8 22428560 22428560 single base substitution C A missense_variant D134E 402C>A BRCA-EU 8 22428560 22428560 single base substitution C A missense_variant D181E 543C>A BRCA-EU 8 22428560 22428560 single base substitution C A missense_variant D194E 582C>A BRCA-EU 8 22428560 22428560 single base substitution C A missense_variant D34E 102C>A BRCA-EU 8 22428560 22428560 single base substitution C A missense_variant D523E 1569C>A BRCA-EU 8 22428560 22428560 single base substitution C A upstream_gene_variant BRCA-EU 8 22429368 22429368 deletion of <=200bp G - downstream_gene_variant BRCA-EU 8 22429368 22429368 deletion of <=200bp G - intron_variant BRCA-EU 8 22429368 22429368 deletion of <=200bp G - upstream_gene_variant BRCA-EU 8 22429451 22429451 single base substitution A T downstream_gene_variant BRCA-EU 8 22429451 22429451 single base substitution A T intron_variant BRCA-EU 8 22429451 22429451 single base substitution A T upstream_gene_variant BRCA-EU 8 22429453 22429453 single base substitution C G downstream_gene_variant BRCA-EU 8 22429453 22429453 single base substitution C G intron_variant BRCA-EU 8 22429453 22429453 single base substitution C G upstream_gene_variant BRCA-EU 8 22432599 22432602 deletion of <=200bp GCCC - 3_prime_UTR_variant BRCA-EU 8 22432599 22432602 deletion of <=200bp GCCC - downstream_gene_variant BRCA-EU 8 22434316 22434316 single base substitution G A downstream_gene_variant BRCA-EU 8 22436079 22436079 single base substitution C T downstream_gene_variant BRCA-EU 8 22436155 22436155 single base substitution C T downstream_gene_variant BRCA-EU 8 22437342 22437342 single base substitution C T downstream_gene_variant BRCA-FR 8 22399002 22399002 single base substitution C T upstream_gene_variant BRCA-FR 8 22399627 22399627 single base substitution C G upstream_gene_variant BRCA-FR 8 22403045 22403045 single base substitution G C intron_variant BRCA-FR 8 22411730 22411730 single base substitution G C intron_variant BRCA-FR 8 22411730 22411730 single base substitution G C upstream_gene_variant BRCA-FR 8 22414380 22414380 single base substitution G T downstream_gene_variant BRCA-FR 8 22414380 22414380 single base substitution G T exon_variant BRCA-FR 8 22414380 22414380 single base substitution G T missense_variant G125W 373G>T BRCA-FR 8 22414380 22414380 single base substitution G T missense_variant G61W 181G>T BRCA-FR 8 22414380 22414380 single base substitution G T missense_variant G79W 235G>T BRCA-FR 8 22414380 22414380 single base substitution G T upstream_gene_variant BRCA-FR 8 22417924 22417924 single base substitution G C downstream_gene_variant BRCA-FR 8 22417924 22417924 single base substitution G C intron_variant BRCA-FR 8 22417924 22417924 single base substitution G C upstream_gene_variant BRCA-FR 8 22420519 22420519 single base substitution C G downstream_gene_variant BRCA-FR 8 22420519 22420519 single base substitution C G intron_variant BRCA-FR 8 22420519 22420519 single base substitution C G upstream_gene_variant BRCA-FR 8 22428420 22428420 single base substitution C G downstream_gene_variant BRCA-FR 8 22428420 22428420 single base substitution C G intron_variant BRCA-FR 8 22428420 22428420 single base substitution C G splice_region_variant BRCA-FR 8 22428420 22428420 single base substitution C G upstream_gene_variant BRCA-FR 8 22428920 22428920 single base substitution C T downstream_gene_variant BRCA-FR 8 22428920 22428920 single base substitution C T intron_variant BRCA-FR 8 22428920 22428920 single base substitution C T upstream_gene_variant BRCA-UK 8 22422503 22422503 single base substitution G A downstream_gene_variant BRCA-UK 8 22422503 22422503 single base substitution G A exon_variant BRCA-UK 8 22422503 22422503 single base substitution G A intron_variant BRCA-UK 8 22422503 22422503 single base substitution G A upstream_gene_variant BRCA-US 8 22414410 22414410 insertion of <=200bp - C downstream_gene_variant BRCA-US 8 22414410 22414410 insertion of <=200bp - C exon_variant BRCA-US 8 22414410 22414410 insertion of <=200bp - C frameshift_variant A135R? BRCA-US 8 22414410 22414410 insertion of <=200bp - C frameshift_variant A71R? BRCA-US 8 22414410 22414410 insertion of <=200bp - C frameshift_variant A89R? BRCA-US 8 22414410 22414410 insertion of <=200bp - C upstream_gene_variant BRCA-US 8 22419432 22419432 single base substitution C A downstream_gene_variant BRCA-US 8 22419432 22419432 single base substitution C A exon_variant BRCA-US 8 22419432 22419432 single base substitution C A intron_variant BRCA-US 8 22419432 22419432 single base substitution C A missense_variant T127K 380C>A BRCA-US 8 22419432 22419432 single base substitution C A missense_variant T191K 572C>A BRCA-US 8 22419432 22419432 single base substitution C A upstream_gene_variant BRCA-US 8 22424226 22424226 single base substitution G A downstream_gene_variant BRCA-US 8 22424226 22424226 single base substitution G A exon_variant BRCA-US 8 22424226 22424226 single base substitution G A splice_region_variant BRCA-US 8 22424226 22424226 single base substitution G A upstream_gene_variant BRCA-US 8 22424566 22424566 single base substitution A C downstream_gene_variant BRCA-US 8 22424566 22424566 single base substitution A C intron_variant BRCA-US 8 22424566 22424566 single base substitution A C missense_variant T6P 16A>C BRCA-US 8 22424566 22424566 single base substitution A C splice_region_variant BRCA-US 8 22424566 22424566 single base substitution A C upstream_gene_variant BRCA-US 8 22428702 22428702 insertion of <=200bp - C downstream_gene_variant BRCA-US 8 22428702 22428702 insertion of <=200bp - C exon_variant BRCA-US 8 22428702 22428702 insertion of <=200bp - C frameshift_variant F182L? BRCA-US 8 22428702 22428702 insertion of <=200bp - C frameshift_variant F229L? BRCA-US 8 22428702 22428702 insertion of <=200bp - C frameshift_variant F242L? BRCA-US 8 22428702 22428702 insertion of <=200bp - C frameshift_variant F571L? BRCA-US 8 22428702 22428702 insertion of <=200bp - C frameshift_variant F82L? BRCA-US 8 22428702 22428702 insertion of <=200bp - C upstream_gene_variant BTCA-JP 8 22421395 22421395 single base substitution G A downstream_gene_variant BTCA-JP 8 22421395 22421395 single base substitution G A intron_variant BTCA-JP 8 22421395 22421395 single base substitution G A upstream_gene_variant BTCA-JP 8 22421443 22421450 deletion of <=200bp GCTTCTGC - downstream_gene_variant BTCA-JP 8 22421443 22421450 deletion of <=200bp GCTTCTGC - intron_variant BTCA-JP 8 22421443 22421450 deletion of <=200bp GCTTCTGC - upstream_gene_variant BTCA-JP 8 22421913 22421913 single base substitution C T downstream_gene_variant BTCA-JP 8 22421913 22421913 single base substitution C T intron_variant BTCA-JP 8 22421913 22421913 single base substitution C T upstream_gene_variant BTCA-JP 8 22428327 22428327 single base substitution C T downstream_gene_variant BTCA-JP 8 22428327 22428327 single base substitution C T intron_variant BTCA-JP 8 22428327 22428327 single base substitution C T upstream_gene_variant BTCA-JP 8 22428633 22428633 single base substitution G A downstream_gene_variant BTCA-JP 8 22428633 22428633 single base substitution G A exon_variant BTCA-JP 8 22428633 22428633 single base substitution G A missense_variant A159T 475G>A BTCA-JP 8 22428633 22428633 single base substitution G A missense_variant A206T 616G>A BTCA-JP 8 22428633 22428633 single base substitution G A missense_variant A219T 655G>A BTCA-JP 8 22428633 22428633 single base substitution G A missense_variant A548T 1642G>A BTCA-JP 8 22428633 22428633 single base substitution G A missense_variant A59T 175G>A BTCA-JP 8 22428633 22428633 single base substitution G A upstream_gene_variant BTCA-JP 8 22429796 22429796 single base substitution C A downstream_gene_variant BTCA-JP 8 22429796 22429796 single base substitution C A intron_variant BTCA-JP 8 22429796 22429796 single base substitution C A upstream_gene_variant CESC-US 8 22398215 22398215 single base substitution G A upstream_gene_variant CESC-US 8 22414398 22414398 single base substitution G T downstream_gene_variant CESC-US 8 22414398 22414398 single base substitution G T exon_variant CESC-US 8 22414398 22414398 single base substitution G T missense_variant G131C 391G>T CESC-US 8 22414398 22414398 single base substitution G T missense_variant G67C 199G>T CESC-US 8 22414398 22414398 single base substitution G T missense_variant G85C 253G>T CESC-US 8 22414398 22414398 single base substitution G T upstream_gene_variant CESC-US 8 22419006 22419006 single base substitution G C downstream_gene_variant CESC-US 8 22419006 22419006 single base substitution G C exon_variant CESC-US 8 22419006 22419006 single base substitution G C intron_variant CESC-US 8 22419006 22419006 single base substitution G C missense_variant E213Q 637G>C CESC-US 8 22419006 22419006 single base substitution G C upstream_gene_variant CESC-US 8 22419414 22419414 single base substitution A G downstream_gene_variant CESC-US 8 22419414 22419414 single base substitution A G exon_variant CESC-US 8 22419414 22419414 single base substitution A G intron_variant CESC-US 8 22419414 22419414 single base substitution A G missense_variant H121R 362A>G CESC-US 8 22419414 22419414 single base substitution A G missense_variant H185R 554A>G CESC-US 8 22419414 22419414 single base substitution A G upstream_gene_variant CLLE-ES 8 22422192 22422192 single base substitution G A downstream_gene_variant CLLE-ES 8 22422192 22422192 single base substitution G A intron_variant CLLE-ES 8 22422192 22422192 single base substitution G A upstream_gene_variant COAD-US 8 22412065 22412065 single base substitution G A exon_variant COAD-US 8 22412065 22412065 single base substitution G A missense_variant D16N 46G>A COAD-US 8 22412065 22412065 single base substitution G A upstream_gene_variant COAD-US 8 22428658 22428658 single base substitution T C downstream_gene_variant COAD-US 8 22428658 22428658 single base substitution T C exon_variant COAD-US 8 22428658 22428658 single base substitution T C missense_variant I167T 500T>C COAD-US 8 22428658 22428658 single base substitution T C missense_variant I214T 641T>C COAD-US 8 22428658 22428658 single base substitution T C missense_variant I227T 680T>C COAD-US 8 22428658 22428658 single base substitution T C missense_variant I556T 1667T>C COAD-US 8 22428658 22428658 single base substitution T C missense_variant I67T 200T>C COAD-US 8 22428658 22428658 single base substitution T C upstream_gene_variant COAD-US 8 22429302 22429302 single base substitution C A downstream_gene_variant COAD-US 8 22429302 22429302 single base substitution C A exon_variant COAD-US 8 22429302 22429302 single base substitution C A missense_variant P33H 98C>A COAD-US 8 22429302 22429302 single base substitution C A synonymous_variant S116S 348C>A COAD-US 8 22429302 22429302 single base substitution C A synonymous_variant S216S 648C>A COAD-US 8 22429302 22429302 single base substitution C A synonymous_variant S263S 789C>A COAD-US 8 22429302 22429302 single base substitution C A synonymous_variant S276S 828C>A COAD-US 8 22429302 22429302 single base substitution C A synonymous_variant S605S 1815C>A COAD-US 8 22429302 22429302 single base substitution C A upstream_gene_variant COCA-CN 8 22408685 22408685 single base substitution G A intron_variant COCA-CN 8 22408685 22408685 single base substitution G A upstream_gene_variant COCA-CN 8 22418387 22418387 single base substitution C T downstream_gene_variant COCA-CN 8 22418387 22418387 single base substitution C T intron_variant COCA-CN 8 22418387 22418387 single base substitution C T upstream_gene_variant COCA-CN 8 22421395 22421395 single base substitution G A downstream_gene_variant COCA-CN 8 22421395 22421395 single base substitution G A intron_variant COCA-CN 8 22421395 22421395 single base substitution G A upstream_gene_variant COCA-CN 8 22423835 22423835 single base substitution C T downstream_gene_variant COCA-CN 8 22423835 22423835 single base substitution C T exon_variant COCA-CN 8 22423835 22423835 single base substitution C T intron_variant COCA-CN 8 22423835 22423835 single base substitution C T upstream_gene_variant COCA-CN 8 22426701 22426701 single base substitution C T downstream_gene_variant COCA-CN 8 22426701 22426701 single base substitution C T exon_variant COCA-CN 8 22426701 22426701 single base substitution C T missense_variant P107L 320C>T COCA-CN 8 22426701 22426701 single base substitution C T missense_variant P120L 359C>T COCA-CN 8 22426701 22426701 single base substitution C T missense_variant P449L 1346C>T COCA-CN 8 22426701 22426701 single base substitution C T missense_variant P60L 179C>T COCA-CN 8 22426701 22426701 single base substitution C T upstream_gene_variant COCA-CN 8 22426859 22426859 single base substitution G C downstream_gene_variant COCA-CN 8 22426859 22426859 single base substitution G C intron_variant COCA-CN 8 22426859 22426859 single base substitution G C upstream_gene_variant COCA-CN 8 22428444 22428444 single base substitution C T downstream_gene_variant COCA-CN 8 22428444 22428444 single base substitution C T exon_variant COCA-CN 8 22428444 22428444 single base substitution C T missense_variant R143C 427C>T COCA-CN 8 22428444 22428444 single base substitution C T missense_variant R156C 466C>T COCA-CN 8 22428444 22428444 single base substitution C T missense_variant R485C 1453C>T COCA-CN 8 22428444 22428444 single base substitution C T missense_variant R96C 286C>T COCA-CN 8 22428444 22428444 single base substitution C T upstream_gene_variant COCA-CN 8 22429024 22429024 single base substitution T C downstream_gene_variant COCA-CN 8 22429024 22429024 single base substitution T C intron_variant COCA-CN 8 22429024 22429024 single base substitution T C upstream_gene_variant COCA-CN 8 22430869 22430869 single base substitution A G downstream_gene_variant COCA-CN 8 22430869 22430869 single base substitution A G intron_variant COCA-CN 8 22430869 22430869 single base substitution A G missense_variant K7R 20A>G COCA-CN 8 22435152 22435152 single base substitution T C downstream_gene_variant COCA-CN 8 22436724 22436724 single base substitution T G downstream_gene_variant EOPC-DE 8 22430436 22430436 single base substitution C A downstream_gene_variant EOPC-DE 8 22430436 22430436 single base substitution C A intron_variant EOPC-DE 8 22430436 22430436 single base substitution C A upstream_gene_variant ESAD-UK 8 22397970 22397970 single base substitution C G upstream_gene_variant ESAD-UK 8 22398335 22398335 single base substitution T A upstream_gene_variant ESAD-UK 8 22398792 22398792 single base substitution T G upstream_gene_variant ESAD-UK 8 22399788 22399788 single base substitution T C upstream_gene_variant ESAD-UK 8 22400749 22400749 single base substitution T C upstream_gene_variant ESAD-UK 8 22401228 22401228 single base substitution G T upstream_gene_variant ESAD-UK 8 22406590 22406590 single base substitution G A intron_variant ESAD-UK 8 22406590 22406590 single base substitution G A upstream_gene_variant ESAD-UK 8 22410074 22410074 single base substitution G A intron_variant ESAD-UK 8 22410074 22410074 single base substitution G A upstream_gene_variant ESAD-UK 8 22410830 22410830 single base substitution G C intron_variant ESAD-UK 8 22410830 22410830 single base substitution G C upstream_gene_variant ESAD-UK 8 22411867 22411867 single base substitution C T exon_variant ESAD-UK 8 22411867 22411867 single base substitution C T intron_variant ESAD-UK 8 22411867 22411867 single base substitution C T upstream_gene_variant ESAD-UK 8 22414019 22414019 single base substitution G T downstream_gene_variant ESAD-UK 8 22414019 22414019 single base substitution G T intron_variant ESAD-UK 8 22414019 22414019 single base substitution G T upstream_gene_variant ESAD-UK 8 22414079 22414079 single base substitution C G downstream_gene_variant ESAD-UK 8 22414079 22414079 single base substitution C G intron_variant ESAD-UK 8 22414079 22414079 single base substitution C G upstream_gene_variant ESAD-UK 8 22415090 22415090 single base substitution G T downstream_gene_variant ESAD-UK 8 22415090 22415090 single base substitution G T intron_variant ESAD-UK 8 22415090 22415090 single base substitution G T upstream_gene_variant ESAD-UK 8 22415478 22415478 single base substitution G A downstream_gene_variant ESAD-UK 8 22415478 22415478 single base substitution G A intron_variant ESAD-UK 8 22415478 22415478 single base substitution G A upstream_gene_variant ESAD-UK 8 22417686 22417686 single base substitution C T downstream_gene_variant ESAD-UK 8 22417686 22417686 single base substitution C T intron_variant ESAD-UK 8 22417686 22417686 single base substitution C T upstream_gene_variant ESAD-UK 8 22419083 22419083 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 22419083 22419083 single base substitution G A downstream_gene_variant ESAD-UK 8 22419083 22419083 single base substitution G A intron_variant ESAD-UK 8 22419083 22419083 single base substitution G A upstream_gene_variant ESAD-UK 8 22419125 22419125 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 22419125 22419125 single base substitution C T downstream_gene_variant ESAD-UK 8 22419125 22419125 single base substitution C T intron_variant ESAD-UK 8 22419125 22419125 single base substitution C T upstream_gene_variant ESAD-UK 8 22419350 22419350 single base substitution A G downstream_gene_variant ESAD-UK 8 22419350 22419350 single base substitution A G intron_variant ESAD-UK 8 22419350 22419350 single base substitution A G upstream_gene_variant ESAD-UK 8 22420109 22420109 single base substitution G A downstream_gene_variant ESAD-UK 8 22420109 22420109 single base substitution G A intron_variant ESAD-UK 8 22420109 22420109 single base substitution G A upstream_gene_variant ESAD-UK 8 22426114 22426114 single base substitution G A downstream_gene_variant ESAD-UK 8 22426114 22426114 single base substitution G A intron_variant ESAD-UK 8 22426114 22426114 single base substitution G A upstream_gene_variant ESAD-UK 8 22426805 22426805 single base substitution G A downstream_gene_variant ESAD-UK 8 22426805 22426805 single base substitution G A intron_variant ESAD-UK 8 22426805 22426805 single base substitution G A upstream_gene_variant ESAD-UK 8 22426860 22426860 single base substitution T C downstream_gene_variant ESAD-UK 8 22426860 22426860 single base substitution T C intron_variant ESAD-UK 8 22426860 22426860 single base substitution T C upstream_gene_variant ESAD-UK 8 22427770 22427770 single base substitution G T downstream_gene_variant ESAD-UK 8 22427770 22427770 single base substitution G T intron_variant ESAD-UK 8 22427770 22427770 single base substitution G T upstream_gene_variant ESAD-UK 8 22429849 22429849 single base substitution G A downstream_gene_variant ESAD-UK 8 22429849 22429849 single base substitution G A splice_region_variant ESAD-UK 8 22429849 22429849 single base substitution G A upstream_gene_variant ESAD-UK 8 22431684 22431684 insertion of <=200bp - C downstream_gene_variant ESAD-UK 8 22431684 22431684 insertion of <=200bp - C intron_variant ESAD-UK 8 22431851 22431851 single base substitution C A downstream_gene_variant ESAD-UK 8 22431851 22431851 single base substitution C A intron_variant ESAD-UK 8 22432010 22432010 single base substitution T G downstream_gene_variant ESAD-UK 8 22432010 22432010 single base substitution T G intron_variant ESAD-UK 8 22433585 22433585 single base substitution G C downstream_gene_variant ESAD-UK 8 22435306 22435306 single base substitution C T downstream_gene_variant ESAD-UK 8 22436519 22436519 single base substitution C A downstream_gene_variant ESAD-UK 8 22437573 22437573 single base substitution C T downstream_gene_variant ESCA-CN 8 22423996 22423996 single base substitution A T downstream_gene_variant ESCA-CN 8 22423996 22423996 single base substitution A T intron_variant ESCA-CN 8 22423996 22423996 single base substitution A T splice_region_variant ESCA-CN 8 22423996 22423996 single base substitution A T upstream_gene_variant KIRC-US 8 22423910 22423910 single base substitution G T 5_prime_UTR_variant KIRC-US 8 22423910 22423910 single base substitution G T downstream_gene_variant KIRC-US 8 22423910 22423910 single base substitution G T exon_variant KIRC-US 8 22423910 22423910 single base substitution G T intron_variant KIRC-US 8 22423910 22423910 single base substitution G T missense_variant A335S 1003G>T KIRC-US 8 22423910 22423910 single base substitution G T upstream_gene_variant LAML-KR 8 22424288 22424288 single base substitution C A downstream_gene_variant LAML-KR 8 22424288 22424288 single base substitution C A exon_variant LAML-KR 8 22424288 22424288 single base substitution C A intron_variant LAML-KR 8 22424288 22424288 single base substitution C A upstream_gene_variant LAML-KR 8 22424489 22424489 single base substitution A G downstream_gene_variant LAML-KR 8 22424489 22424489 single base substitution A G intron_variant LAML-KR 8 22424489 22424489 single base substitution A G upstream_gene_variant LICA-CN 8 22414300 22414300 single base substitution A T downstream_gene_variant LICA-CN 8 22414300 22414300 single base substitution A T exon_variant LICA-CN 8 22414300 22414300 single base substitution A T missense_variant Q34L 101A>T LICA-CN 8 22414300 22414300 single base substitution A T missense_variant Q52L 155A>T LICA-CN 8 22414300 22414300 single base substitution A T missense_variant Q98L 293A>T LICA-CN 8 22414300 22414300 single base substitution A T upstream_gene_variant LICA-CN 8 22423890 22423890 single base substitution A G 5_prime_UTR_variant LICA-CN 8 22423890 22423890 single base substitution A G downstream_gene_variant LICA-CN 8 22423890 22423890 single base substitution A G exon_variant LICA-CN 8 22423890 22423890 single base substitution A G intron_variant LICA-CN 8 22423890 22423890 single base substitution A G missense_variant H328R 983A>G LICA-CN 8 22423890 22423890 single base substitution A G upstream_gene_variant LICA-FR 8 22401134 22401134 insertion of <=200bp - GT upstream_gene_variant LICA-FR 8 22410739 22410739 single base substitution G A intron_variant LICA-FR 8 22410739 22410739 single base substitution G A upstream_gene_variant LICA-FR 8 22422002 22422002 single base substitution G A downstream_gene_variant LICA-FR 8 22422002 22422002 single base substitution G A exon_variant LICA-FR 8 22422002 22422002 single base substitution G A missense_variant D262N 784G>A LICA-FR 8 22422002 22422002 single base substitution G A upstream_gene_variant LINC-JP 8 22413581 22413581 single base substitution C T downstream_gene_variant LINC-JP 8 22413581 22413581 single base substitution C T intron_variant LINC-JP 8 22413581 22413581 single base substitution C T upstream_gene_variant LINC-JP 8 22419087 22419087 single base substitution C T 3_prime_UTR_variant LINC-JP 8 22419087 22419087 single base substitution C T downstream_gene_variant LINC-JP 8 22419087 22419087 single base substitution C T intron_variant LINC-JP 8 22419087 22419087 single base substitution C T upstream_gene_variant LINC-JP 8 22421658 22421658 single base substitution G T downstream_gene_variant LINC-JP 8 22421658 22421658 single base substitution G T intron_variant LINC-JP 8 22421658 22421658 single base substitution G T upstream_gene_variant LINC-JP 8 22427534 22427534 single base substitution A G downstream_gene_variant LINC-JP 8 22427534 22427534 single base substitution A G intron_variant LINC-JP 8 22427534 22427534 single base substitution A G upstream_gene_variant LINC-JP 8 22427758 22427758 single base substitution G T downstream_gene_variant LINC-JP 8 22427758 22427758 single base substitution G T intron_variant LINC-JP 8 22427758 22427758 single base substitution G T upstream_gene_variant LINC-JP 8 22430057 22430057 single base substitution G T downstream_gene_variant LINC-JP 8 22430057 22430057 single base substitution G T intron_variant LINC-JP 8 22430057 22430057 single base substitution G T upstream_gene_variant LINC-JP 8 22436590 22436590 single base substitution C A downstream_gene_variant LIRI-JP 8 22402856 22402856 single base substitution G A intron_variant LIRI-JP 8 22404928 22404928 single base substitution G T intron_variant LIRI-JP 8 22404928 22404928 single base substitution G T upstream_gene_variant LIRI-JP 8 22408217 22408217 insertion of <=200bp - A intron_variant LIRI-JP 8 22408217 22408217 insertion of <=200bp - A upstream_gene_variant LIRI-JP 8 22414079 22414079 single base substitution C G downstream_gene_variant LIRI-JP 8 22414079 22414079 single base substitution C G intron_variant LIRI-JP 8 22414079 22414079 single base substitution C G upstream_gene_variant LIRI-JP 8 22414201 22414201 single base substitution T G downstream_gene_variant LIRI-JP 8 22414201 22414201 single base substitution T G intron_variant LIRI-JP 8 22414201 22414201 single base substitution T G missense_variant L1R 2T>G LIRI-JP 8 22414201 22414201 single base substitution T G upstream_gene_variant LIRI-JP 8 22416280 22416280 single base substitution G T downstream_gene_variant LIRI-JP 8 22416280 22416280 single base substitution G T intron_variant LIRI-JP 8 22416280 22416280 single base substitution G T upstream_gene_variant LIRI-JP 8 22417323 22417323 single base substitution G T downstream_gene_variant LIRI-JP 8 22417323 22417323 single base substitution G T intron_variant LIRI-JP 8 22417323 22417323 single base substitution G T upstream_gene_variant LIRI-JP 8 22419178 22419178 single base substitution A C 3_prime_UTR_variant LIRI-JP 8 22419178 22419178 single base substitution A C downstream_gene_variant LIRI-JP 8 22419178 22419178 single base substitution A C intron_variant LIRI-JP 8 22419178 22419178 single base substitution A C upstream_gene_variant LIRI-JP 8 22420622 22420622 single base substitution A G downstream_gene_variant LIRI-JP 8 22420622 22420622 single base substitution A G intron_variant LIRI-JP 8 22420622 22420622 single base substitution A G upstream_gene_variant LIRI-JP 8 22421313 22421313 single base substitution A C downstream_gene_variant LIRI-JP 8 22421313 22421313 single base substitution A C intron_variant LIRI-JP 8 22421313 22421313 single base substitution A C upstream_gene_variant LIRI-JP 8 22422477 22422477 single base substitution T C downstream_gene_variant LIRI-JP 8 22422477 22422477 single base substitution T C exon_variant LIRI-JP 8 22422477 22422477 single base substitution T C intron_variant LIRI-JP 8 22422477 22422477 single base substitution T C upstream_gene_variant LIRI-JP 8 22424876 22424876 single base substitution A T downstream_gene_variant LIRI-JP 8 22424876 22424876 single base substitution A T intron_variant LIRI-JP 8 22424876 22424876 single base substitution A T upstream_gene_variant LIRI-JP 8 22432912 22432912 single base substitution A T 3_prime_UTR_variant LIRI-JP 8 22432912 22432912 single base substitution A T downstream_gene_variant LUSC-KR 8 22403331 22403331 single base substitution A G intron_variant LUSC-KR 8 22409592 22409592 single base substitution C A intron_variant LUSC-KR 8 22409592 22409592 single base substitution C A upstream_gene_variant LUSC-KR 8 22417286 22417286 single base substitution G C downstream_gene_variant LUSC-KR 8 22417286 22417286 single base substitution G C intron_variant LUSC-KR 8 22417286 22417286 single base substitution G C upstream_gene_variant LUSC-KR 8 22419555 22419555 single base substitution G C downstream_gene_variant LUSC-KR 8 22419555 22419555 single base substitution G C intron_variant LUSC-KR 8 22419555 22419555 single base substitution G C upstream_gene_variant LUSC-KR 8 22419588 22419588 single base substitution T C downstream_gene_variant LUSC-KR 8 22419588 22419588 single base substitution T C intron_variant LUSC-KR 8 22419588 22419588 single base substitution T C upstream_gene_variant LUSC-KR 8 22423075 22423075 single base substitution G T downstream_gene_variant LUSC-KR 8 22423075 22423075 single base substitution G T exon_variant LUSC-KR 8 22423075 22423075 single base substitution G T intron_variant LUSC-KR 8 22423075 22423075 single base substitution G T upstream_gene_variant LUSC-KR 8 22423144 22423144 single base substitution C T downstream_gene_variant LUSC-KR 8 22423144 22423144 single base substitution C T exon_variant LUSC-KR 8 22423144 22423144 single base substitution C T intron_variant LUSC-KR 8 22423144 22423144 single base substitution C T upstream_gene_variant LUSC-KR 8 22427508 22427508 single base substitution G T downstream_gene_variant LUSC-KR 8 22427508 22427508 single base substitution G T intron_variant LUSC-KR 8 22427508 22427508 single base substitution G T upstream_gene_variant LUSC-KR 8 22429463 22429463 single base substitution C G downstream_gene_variant LUSC-KR 8 22429463 22429463 single base substitution C G intron_variant LUSC-KR 8 22429463 22429463 single base substitution C G upstream_gene_variant LUSC-KR 8 22432377 22432377 single base substitution C A 3_prime_UTR_variant LUSC-KR 8 22432377 22432377 single base substitution C A downstream_gene_variant LUSC-KR 8 22432377 22432377 single base substitution C A exon_variant LUSC-KR 8 22432377 22432377 single base substitution C A intron_variant LUSC-KR 8 22432377 22432377 single base substitution C A synonymous_variant A145A 435C>A LUSC-US 8 22414361 22414361 single base substitution G A downstream_gene_variant LUSC-US 8 22414361 22414361 single base substitution G A exon_variant LUSC-US 8 22414361 22414361 single base substitution G A stop_gained W118* 354G>A LUSC-US 8 22414361 22414361 single base substitution G A stop_gained W54* 162G>A LUSC-US 8 22414361 22414361 single base substitution G A stop_gained W72* 216G>A LUSC-US 8 22414361 22414361 single base substitution G A upstream_gene_variant LUSC-US 8 22414364 22414364 single base substitution C T downstream_gene_variant LUSC-US 8 22414364 22414364 single base substitution C T exon_variant LUSC-US 8 22414364 22414364 single base substitution C T synonymous_variant V119V 357C>T LUSC-US 8 22414364 22414364 single base substitution C T synonymous_variant V55V 165C>T LUSC-US 8 22414364 22414364 single base substitution C T synonymous_variant V73V 219C>T LUSC-US 8 22414364 22414364 single base substitution C T upstream_gene_variant LUSC-US 8 22421834 22421834 single base substitution G C downstream_gene_variant LUSC-US 8 22421834 22421834 single base substitution G C exon_variant LUSC-US 8 22421834 22421834 single base substitution G C synonymous_variant T174T 522G>C LUSC-US 8 22421834 22421834 single base substitution G C synonymous_variant T238T 714G>C LUSC-US 8 22421834 22421834 single base substitution G C upstream_gene_variant LUSC-US 8 22432219 22432219 single base substitution G T downstream_gene_variant LUSC-US 8 22432219 22432219 single base substitution G T exon_variant LUSC-US 8 22432219 22432219 single base substitution G T missense_variant G176V 527G>T LUSC-US 8 22432219 22432219 single base substitution G T missense_variant G323V 968G>T LUSC-US 8 22432219 22432219 single base substitution G T missense_variant G665V 1994G>T LUSC-US 8 22432219 22432219 single base substitution G T missense_variant W42C 126G>T LUSC-US 8 22432219 22432219 single base substitution G T stop_gained E93* 277G>T MALY-DE 8 22399886 22399886 single base substitution T A upstream_gene_variant MALY-DE 8 22406526 22406526 single base substitution G A intron_variant MALY-DE 8 22406526 22406526 single base substitution G A upstream_gene_variant MALY-DE 8 22408630 22408630 single base substitution C T intron_variant MALY-DE 8 22408630 22408630 single base substitution C T upstream_gene_variant MALY-DE 8 22408679 22408679 single base substitution A C intron_variant MALY-DE 8 22408679 22408679 single base substitution A C upstream_gene_variant MALY-DE 8 22410980 22410980 single base substitution T C intron_variant MALY-DE 8 22410980 22410980 single base substitution T C upstream_gene_variant MALY-DE 8 22417352 22417352 single base substitution C G downstream_gene_variant MALY-DE 8 22417352 22417352 single base substitution C G intron_variant MALY-DE 8 22417352 22417352 single base substitution C G upstream_gene_variant MALY-DE 8 22431014 22431014 single base substitution C T downstream_gene_variant MALY-DE 8 22431014 22431014 single base substitution C T intron_variant MALY-DE 8 22435990 22435990 single base substitution C T downstream_gene_variant MALY-DE 8 22436829 22436829 single base substitution C T downstream_gene_variant MELA-AU 8 22401133 22401133 single base substitution G T upstream_gene_variant MELA-AU 8 22401828 22401828 single base substitution C T upstream_gene_variant MELA-AU 8 22404007 22404007 single base substitution C G intron_variant MELA-AU 8 22404721 22404721 single base substitution G A intron_variant MELA-AU 8 22404721 22404721 single base substitution G A upstream_gene_variant MELA-AU 8 22405143 22405143 single base substitution C T intron_variant MELA-AU 8 22405143 22405143 single base substitution C T upstream_gene_variant MELA-AU 8 22408236 22408236 single base substitution C T intron_variant MELA-AU 8 22408236 22408236 single base substitution C T upstream_gene_variant MELA-AU 8 22408493 22408494 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 22408493 22408494 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 22408697 22408697 single base substitution C T intron_variant MELA-AU 8 22408697 22408697 single base substitution C T upstream_gene_variant MELA-AU 8 22409820 22409820 single base substitution C T intron_variant MELA-AU 8 22409820 22409820 single base substitution C T upstream_gene_variant MELA-AU 8 22412008 22412008 single base substitution C T 5_prime_UTR_variant MELA-AU 8 22412008 22412008 single base substitution C T exon_variant MELA-AU 8 22412008 22412008 single base substitution C T upstream_gene_variant MELA-AU 8 22412467 22412467 single base substitution C T exon_variant MELA-AU 8 22412467 22412467 single base substitution C T missense_variant P19L 56C>T MELA-AU 8 22412467 22412467 single base substitution C T missense_variant P65L 194C>T MELA-AU 8 22412467 22412467 single base substitution C T upstream_gene_variant MELA-AU 8 22412671 22412671 single base substitution T A downstream_gene_variant MELA-AU 8 22412671 22412671 single base substitution T A intron_variant MELA-AU 8 22412671 22412671 single base substitution T A upstream_gene_variant MELA-AU 8 22414375 22414375 single base substitution G A downstream_gene_variant MELA-AU 8 22414375 22414375 single base substitution G A exon_variant MELA-AU 8 22414375 22414375 single base substitution G A missense_variant G123E 368G>A MELA-AU 8 22414375 22414375 single base substitution G A missense_variant G59E 176G>A MELA-AU 8 22414375 22414375 single base substitution G A missense_variant G77E 230G>A MELA-AU 8 22414375 22414375 single base substitution G A upstream_gene_variant MELA-AU 8 22414380 22414380 single base substitution G T downstream_gene_variant MELA-AU 8 22414380 22414380 single base substitution G T exon_variant MELA-AU 8 22414380 22414380 single base substitution G T missense_variant G125W 373G>T MELA-AU 8 22414380 22414380 single base substitution G T missense_variant G61W 181G>T MELA-AU 8 22414380 22414380 single base substitution G T missense_variant G79W 235G>T MELA-AU 8 22414380 22414380 single base substitution G T upstream_gene_variant MELA-AU 8 22415968 22415968 single base substitution C T downstream_gene_variant MELA-AU 8 22415968 22415968 single base substitution C T intron_variant MELA-AU 8 22415968 22415968 single base substitution C T upstream_gene_variant MELA-AU 8 22416239 22416239 single base substitution C T downstream_gene_variant MELA-AU 8 22416239 22416239 single base substitution C T intron_variant MELA-AU 8 22416239 22416239 single base substitution C T upstream_gene_variant MELA-AU 8 22416406 22416406 single base substitution C T downstream_gene_variant MELA-AU 8 22416406 22416406 single base substitution C T intron_variant MELA-AU 8 22416406 22416406 single base substitution C T upstream_gene_variant MELA-AU 8 22417143 22417143 single base substitution G A downstream_gene_variant MELA-AU 8 22417143 22417143 single base substitution G A intron_variant MELA-AU 8 22417143 22417143 single base substitution G A upstream_gene_variant MELA-AU 8 22417320 22417320 single base substitution C A downstream_gene_variant MELA-AU 8 22417320 22417320 single base substitution C A intron_variant MELA-AU 8 22417320 22417320 single base substitution C A upstream_gene_variant MELA-AU 8 22418703 22418703 single base substitution C T downstream_gene_variant MELA-AU 8 22418703 22418703 single base substitution C T intron_variant MELA-AU 8 22418703 22418703 single base substitution C T upstream_gene_variant MELA-AU 8 22418942 22418942 single base substitution C T downstream_gene_variant MELA-AU 8 22418942 22418942 single base substitution C T exon_variant MELA-AU 8 22418942 22418942 single base substitution C T intron_variant MELA-AU 8 22418942 22418942 single base substitution C T synonymous_variant L191L 573C>T MELA-AU 8 22418942 22418942 single base substitution C T upstream_gene_variant MELA-AU 8 22419104 22419104 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22419104 22419104 single base substitution C T downstream_gene_variant MELA-AU 8 22419104 22419104 single base substitution C T intron_variant MELA-AU 8 22419104 22419104 single base substitution C T upstream_gene_variant MELA-AU 8 22419123 22419123 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22419123 22419123 single base substitution G A downstream_gene_variant MELA-AU 8 22419123 22419123 single base substitution G A intron_variant MELA-AU 8 22419123 22419123 single base substitution G A upstream_gene_variant MELA-AU 8 22419910 22419910 single base substitution G T downstream_gene_variant MELA-AU 8 22419910 22419910 single base substitution G T intron_variant MELA-AU 8 22419910 22419910 single base substitution G T upstream_gene_variant MELA-AU 8 22420002 22420002 single base substitution C T downstream_gene_variant MELA-AU 8 22420002 22420002 single base substitution C T intron_variant MELA-AU 8 22420002 22420002 single base substitution C T upstream_gene_variant MELA-AU 8 22421751 22421751 single base substitution C T downstream_gene_variant MELA-AU 8 22421751 22421751 single base substitution C T intron_variant MELA-AU 8 22421751 22421751 single base substitution C T upstream_gene_variant MELA-AU 8 22421986 22421986 single base substitution G A downstream_gene_variant MELA-AU 8 22421986 22421986 single base substitution G A exon_variant MELA-AU 8 22421986 22421986 single base substitution G A synonymous_variant K256K 768G>A MELA-AU 8 22421986 22421986 single base substitution G A upstream_gene_variant MELA-AU 8 22422602 22422602 single base substitution G C downstream_gene_variant MELA-AU 8 22422602 22422602 single base substitution G C exon_variant MELA-AU 8 22422602 22422602 single base substitution G C intron_variant MELA-AU 8 22422602 22422602 single base substitution G C upstream_gene_variant MELA-AU 8 22424194 22424194 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22424194 22424194 single base substitution G A downstream_gene_variant MELA-AU 8 22424194 22424194 single base substitution G A exon_variant MELA-AU 8 22424194 22424194 single base substitution G A missense_variant G29R 85G>A MELA-AU 8 22424194 22424194 single base substitution G A missense_variant G371R 1111G>A MELA-AU 8 22424194 22424194 single base substitution G A missense_variant G42R 124G>A MELA-AU 8 22424194 22424194 single base substitution G A upstream_gene_variant MELA-AU 8 22424404 22424404 single base substitution C T downstream_gene_variant MELA-AU 8 22424404 22424404 single base substitution C T intron_variant MELA-AU 8 22424404 22424404 single base substitution C T upstream_gene_variant MELA-AU 8 22424432 22424432 single base substitution C T downstream_gene_variant MELA-AU 8 22424432 22424432 single base substitution C T intron_variant MELA-AU 8 22424432 22424432 single base substitution C T upstream_gene_variant MELA-AU 8 22424559 22424559 single base substitution C T downstream_gene_variant MELA-AU 8 22424559 22424559 single base substitution C T intron_variant MELA-AU 8 22424559 22424559 single base substitution C T synonymous_variant L3L 9C>T MELA-AU 8 22424559 22424559 single base substitution C T upstream_gene_variant MELA-AU 8 22424772 22424772 single base substitution C T downstream_gene_variant MELA-AU 8 22424772 22424772 single base substitution C T intron_variant MELA-AU 8 22424772 22424772 single base substitution C T upstream_gene_variant MELA-AU 8 22428317 22428317 single base substitution C T downstream_gene_variant MELA-AU 8 22428317 22428317 single base substitution C T intron_variant MELA-AU 8 22428317 22428317 single base substitution C T upstream_gene_variant MELA-AU 8 22428819 22428819 single base substitution C T downstream_gene_variant MELA-AU 8 22428819 22428819 single base substitution C T intron_variant MELA-AU 8 22428819 22428819 single base substitution C T upstream_gene_variant MELA-AU 8 22428880 22428880 single base substitution C T downstream_gene_variant MELA-AU 8 22428880 22428880 single base substitution C T intron_variant MELA-AU 8 22428880 22428880 single base substitution C T upstream_gene_variant MELA-AU 8 22428961 22428961 single base substitution C T downstream_gene_variant MELA-AU 8 22428961 22428961 single base substitution C T intron_variant MELA-AU 8 22428961 22428961 single base substitution C T upstream_gene_variant MELA-AU 8 22429455 22429455 single base substitution C T downstream_gene_variant MELA-AU 8 22429455 22429455 single base substitution C T intron_variant MELA-AU 8 22429455 22429455 single base substitution C T upstream_gene_variant MELA-AU 8 22429678 22429678 single base substitution G A downstream_gene_variant MELA-AU 8 22429678 22429678 single base substitution G A intron_variant MELA-AU 8 22429678 22429678 single base substitution G A upstream_gene_variant MELA-AU 8 22429868 22429868 single base substitution C T downstream_gene_variant MELA-AU 8 22429868 22429868 single base substitution C T exon_variant MELA-AU 8 22429868 22429868 single base substitution C T missense_variant T49I 146C>T MELA-AU 8 22429868 22429868 single base substitution C T synonymous_variant Y132Y 396C>T MELA-AU 8 22429868 22429868 single base substitution C T synonymous_variant Y279Y 837C>T MELA-AU 8 22429868 22429868 single base substitution C T synonymous_variant Y621Y 1863C>T MELA-AU 8 22429868 22429868 single base substitution C T upstream_gene_variant MELA-AU 8 22429879 22429879 single base substitution C T downstream_gene_variant MELA-AU 8 22429879 22429879 single base substitution C T exon_variant MELA-AU 8 22429879 22429879 single base substitution C T missense_variant P136L 407C>T MELA-AU 8 22429879 22429879 single base substitution C T missense_variant P283L 848C>T MELA-AU 8 22429879 22429879 single base substitution C T missense_variant P53S 157C>T MELA-AU 8 22429879 22429879 single base substitution C T missense_variant P625L 1874C>T MELA-AU 8 22429879 22429879 single base substitution C T upstream_gene_variant MELA-AU 8 22429907 22429907 single base substitution C A downstream_gene_variant MELA-AU 8 22429907 22429907 single base substitution C A exon_variant MELA-AU 8 22429907 22429907 single base substitution C A missense_variant A62E 185C>A MELA-AU 8 22429907 22429907 single base substitution C A synonymous_variant R145R 435C>A MELA-AU 8 22429907 22429907 single base substitution C A synonymous_variant R292R 876C>A MELA-AU 8 22429907 22429907 single base substitution C A synonymous_variant R634R 1902C>A MELA-AU 8 22429907 22429907 single base substitution C A upstream_gene_variant MELA-AU 8 22429909 22429909 single base substitution A T downstream_gene_variant MELA-AU 8 22429909 22429909 single base substitution A T exon_variant MELA-AU 8 22429909 22429909 single base substitution A T missense_variant E146V 437A>T MELA-AU 8 22429909 22429909 single base substitution A T missense_variant E293V 878A>T MELA-AU 8 22429909 22429909 single base substitution A T missense_variant E635V 1904A>T MELA-AU 8 22429909 22429909 single base substitution A T missense_variant R63W 187A>T MELA-AU 8 22429909 22429909 single base substitution A T upstream_gene_variant MELA-AU 8 22430009 22430009 single base substitution G A downstream_gene_variant MELA-AU 8 22430009 22430009 single base substitution G A intron_variant MELA-AU 8 22430009 22430009 single base substitution G A upstream_gene_variant MELA-AU 8 22430468 22430468 single base substitution A G downstream_gene_variant MELA-AU 8 22430468 22430468 single base substitution A G intron_variant MELA-AU 8 22430468 22430468 single base substitution A G upstream_gene_variant MELA-AU 8 22431685 22431685 single base substitution C T downstream_gene_variant MELA-AU 8 22431685 22431685 single base substitution C T intron_variant MELA-AU 8 22431778 22431778 single base substitution C T downstream_gene_variant MELA-AU 8 22431778 22431778 single base substitution C T intron_variant MELA-AU 8 22432349 22432349 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22432349 22432349 single base substitution C T downstream_gene_variant MELA-AU 8 22432349 22432349 single base substitution C T exon_variant MELA-AU 8 22432349 22432349 single base substitution C T intron_variant MELA-AU 8 22432349 22432349 single base substitution C T missense_variant S136F 407C>T MELA-AU 8 22432553 22432553 single base substitution C T 3_prime_UTR_variant MELA-AU 8 22432553 22432553 single base substitution C T downstream_gene_variant MELA-AU 8 22432553 22432553 single base substitution C T exon_variant MELA-AU 8 22433162 22433162 single base substitution G A 3_prime_UTR_variant MELA-AU 8 22433162 22433162 single base substitution G A downstream_gene_variant MELA-AU 8 22433579 22433579 single base substitution C T downstream_gene_variant MELA-AU 8 22434170 22434182 deletion of <=200bp GCCCTCGTCCAGG - downstream_gene_variant MELA-AU 8 22434512 22434512 single base substitution C T downstream_gene_variant MELA-AU 8 22435195 22435195 single base substitution C T downstream_gene_variant MELA-AU 8 22435333 22435333 single base substitution C T downstream_gene_variant MELA-AU 8 22435390 22435390 single base substitution C T downstream_gene_variant MELA-AU 8 22435431 22435431 single base substitution C T downstream_gene_variant MELA-AU 8 22435470 22435470 single base substitution C T downstream_gene_variant MELA-AU 8 22436066 22436066 single base substitution C T downstream_gene_variant MELA-AU 8 22436190 22436190 single base substitution G A downstream_gene_variant MELA-AU 8 22436403 22436403 single base substitution G A downstream_gene_variant MELA-AU 8 22437587 22437587 single base substitution C T downstream_gene_variant MELA-AU 8 22437736 22437736 single base substitution T C downstream_gene_variant MELA-AU 8 22437897 22437897 single base substitution G A downstream_gene_variant MELA-AU 8 22437903 22437903 single base substitution C T downstream_gene_variant MELA-AU 8 22437952 22437952 single base substitution G A downstream_gene_variant ORCA-IN 8 22407279 22407279 single base substitution G T intron_variant ORCA-IN 8 22407279 22407279 single base substitution G T upstream_gene_variant ORCA-IN 8 22412427 22412427 single base substitution G A exon_variant ORCA-IN 8 22412427 22412427 single base substitution G A missense_variant D52N 154G>A ORCA-IN 8 22412427 22412427 single base substitution G A missense_variant D6N 16G>A ORCA-IN 8 22412427 22412427 single base substitution G A upstream_gene_variant ORCA-IN 8 22420964 22420964 single base substitution G C downstream_gene_variant ORCA-IN 8 22420964 22420964 single base substitution G C intron_variant ORCA-IN 8 22420964 22420964 single base substitution G C upstream_gene_variant ORCA-IN 8 22437241 22437241 single base substitution C T downstream_gene_variant OV-AU 8 22398330 22398330 single base substitution G A upstream_gene_variant OV-AU 8 22403057 22403057 single base substitution A G intron_variant OV-AU 8 22407316 22407316 single base substitution C A intron_variant OV-AU 8 22407316 22407316 single base substitution C A upstream_gene_variant OV-AU 8 22408645 22408645 single base substitution G C intron_variant OV-AU 8 22408645 22408645 single base substitution G C upstream_gene_variant OV-AU 8 22409373 22409373 single base substitution G A 5_prime_UTR_variant OV-AU 8 22409373 22409373 single base substitution G A intron_variant OV-AU 8 22409373 22409373 single base substitution G A upstream_gene_variant OV-AU 8 22418958 22418958 single base substitution C T downstream_gene_variant OV-AU 8 22418958 22418958 single base substitution C T exon_variant OV-AU 8 22418958 22418958 single base substitution C T intron_variant OV-AU 8 22418958 22418958 single base substitution C T missense_variant R197C 589C>T OV-AU 8 22418958 22418958 single base substitution C T upstream_gene_variant OV-AU 8 22419496 22419496 single base substitution A T downstream_gene_variant OV-AU 8 22419496 22419496 single base substitution A T intron_variant OV-AU 8 22419496 22419496 single base substitution A T upstream_gene_variant OV-AU 8 22428470 22428470 deletion of <=200bp G - downstream_gene_variant OV-AU 8 22428470 22428470 deletion of <=200bp G - exon_variant OV-AU 8 22428470 22428470 deletion of <=200bp G - frameshift_variant E104 OV-AU 8 22428470 22428470 deletion of <=200bp G - frameshift_variant E151 OV-AU 8 22428470 22428470 deletion of <=200bp G - frameshift_variant E164 OV-AU 8 22428470 22428470 deletion of <=200bp G - frameshift_variant E4 OV-AU 8 22428470 22428470 deletion of <=200bp G - frameshift_variant E493 OV-AU 8 22428470 22428470 deletion of <=200bp G - upstream_gene_variant PACA-AU 8 22399092 22399092 single base substitution T G upstream_gene_variant PACA-AU 8 22410690 22410690 single base substitution C T intron_variant PACA-AU 8 22410690 22410690 single base substitution C T upstream_gene_variant PACA-AU 8 22411637 22411637 single base substitution G A intron_variant PACA-AU 8 22411637 22411637 single base substitution G A upstream_gene_variant PACA-AU 8 22414302 22414302 single base substitution C T downstream_gene_variant PACA-AU 8 22414302 22414302 single base substitution C T exon_variant PACA-AU 8 22414302 22414302 single base substitution C T missense_variant H35Y 103C>T PACA-AU 8 22414302 22414302 single base substitution C T missense_variant H53Y 157C>T PACA-AU 8 22414302 22414302 single base substitution C T missense_variant H99Y 295C>T PACA-AU 8 22414302 22414302 single base substitution C T upstream_gene_variant PACA-AU 8 22414398 22414398 single base substitution G C downstream_gene_variant PACA-AU 8 22414398 22414398 single base substitution G C exon_variant PACA-AU 8 22414398 22414398 single base substitution G C missense_variant G131R 391G>C PACA-AU 8 22414398 22414398 single base substitution G C missense_variant G67R 199G>C PACA-AU 8 22414398 22414398 single base substitution G C missense_variant G85R 253G>C PACA-AU 8 22414398 22414398 single base substitution G C upstream_gene_variant PACA-AU 8 22418769 22418769 single base substitution G T downstream_gene_variant PACA-AU 8 22418769 22418769 single base substitution G T intron_variant PACA-AU 8 22418769 22418769 single base substitution G T upstream_gene_variant PACA-AU 8 22435009 22435009 single base substitution A G downstream_gene_variant PACA-CA 8 22400233 22400233 single base substitution T C upstream_gene_variant PACA-CA 8 22401132 22401132 insertion of <=200bp - T upstream_gene_variant PACA-CA 8 22402167 22402167 single base substitution G A upstream_gene_variant PACA-CA 8 22407378 22407378 single base substitution C T intron_variant PACA-CA 8 22407378 22407378 single base substitution C T upstream_gene_variant PACA-CA 8 22408226 22408226 insertion of <=200bp - A intron_variant PACA-CA 8 22408226 22408226 insertion of <=200bp - A upstream_gene_variant PACA-CA 8 22411019 22411019 single base substitution C T intron_variant PACA-CA 8 22411019 22411019 single base substitution C T upstream_gene_variant PACA-CA 8 22413391 22413391 deletion of <=200bp A - downstream_gene_variant PACA-CA 8 22413391 22413391 deletion of <=200bp A - intron_variant PACA-CA 8 22413391 22413391 deletion of <=200bp A - upstream_gene_variant PACA-CA 8 22415256 22415256 single base substitution T C downstream_gene_variant PACA-CA 8 22415256 22415256 single base substitution T C intron_variant PACA-CA 8 22415256 22415256 single base substitution T C upstream_gene_variant PACA-CA 8 22416344 22416344 single base substitution C G downstream_gene_variant PACA-CA 8 22416344 22416344 single base substitution C G intron_variant PACA-CA 8 22416344 22416344 single base substitution C G upstream_gene_variant PACA-CA 8 22416817 22416817 single base substitution G A downstream_gene_variant PACA-CA 8 22416817 22416817 single base substitution G A intron_variant PACA-CA 8 22416817 22416817 single base substitution G A upstream_gene_variant PACA-CA 8 22417060 22417060 insertion of <=200bp - AAA downstream_gene_variant PACA-CA 8 22417060 22417060 insertion of <=200bp - AAA intron_variant PACA-CA 8 22417060 22417060 insertion of <=200bp - AAA upstream_gene_variant PACA-CA 8 22417993 22417993 single base substitution C T downstream_gene_variant PACA-CA 8 22417993 22417993 single base substitution C T intron_variant PACA-CA 8 22417993 22417993 single base substitution C T upstream_gene_variant PACA-CA 8 22427252 22427252 deletion of <=200bp T - downstream_gene_variant PACA-CA 8 22427252 22427252 deletion of <=200bp T - intron_variant PACA-CA 8 22427252 22427252 deletion of <=200bp T - upstream_gene_variant PACA-CA 8 22427487 22427487 single base substitution C G downstream_gene_variant PACA-CA 8 22427487 22427487 single base substitution C G intron_variant PACA-CA 8 22427487 22427487 single base substitution C G upstream_gene_variant PACA-CA 8 22428274 22428274 deletion of <=200bp C - downstream_gene_variant PACA-CA 8 22428274 22428274 deletion of <=200bp C - intron_variant PACA-CA 8 22428274 22428274 deletion of <=200bp C - upstream_gene_variant PACA-CA 8 22429123 22429123 single base substitution G A downstream_gene_variant PACA-CA 8 22429123 22429123 single base substitution G A intron_variant PACA-CA 8 22429123 22429123 single base substitution G A upstream_gene_variant PACA-CA 8 22436304 22436304 single base substitution G T downstream_gene_variant PACA-CA 8 22436305 22436305 single base substitution A T downstream_gene_variant PAEN-AU 8 22418392 22418392 single base substitution G A downstream_gene_variant PAEN-AU 8 22418392 22418392 single base substitution G A intron_variant PAEN-AU 8 22418392 22418392 single base substitution G A upstream_gene_variant PAEN-AU 8 22428853 22428853 single base substitution T G downstream_gene_variant PAEN-AU 8 22428853 22428853 single base substitution T G intron_variant PAEN-AU 8 22428853 22428853 single base substitution T G upstream_gene_variant PAEN-IT 8 22397890 22397890 single base substitution G C upstream_gene_variant PAEN-IT 8 22424190 22424190 single base substitution C T 3_prime_UTR_variant PAEN-IT 8 22424190 22424190 single base substitution C T downstream_gene_variant PAEN-IT 8 22424190 22424190 single base substitution C T exon_variant PAEN-IT 8 22424190 22424190 single base substitution C T synonymous_variant N27N 81C>T PAEN-IT 8 22424190 22424190 single base substitution C T synonymous_variant N369N 1107C>T PAEN-IT 8 22424190 22424190 single base substitution C T synonymous_variant N40N 120C>T PAEN-IT 8 22424190 22424190 single base substitution C T upstream_gene_variant PAEN-IT 8 22435731 22435731 single base substitution C T downstream_gene_variant PAEN-IT 8 22435732 22435732 single base substitution C G downstream_gene_variant PAEN-IT 8 22435733 22435733 single base substitution A G downstream_gene_variant PBCA-DE 8 22400016 22400016 single base substitution A T upstream_gene_variant PBCA-DE 8 22410337 22410337 single base substitution G A intron_variant PBCA-DE 8 22410337 22410337 single base substitution G A upstream_gene_variant PBCA-DE 8 22415664 22415664 single base substitution G A downstream_gene_variant PBCA-DE 8 22415664 22415664 single base substitution G A exon_variant PBCA-DE 8 22415664 22415664 single base substitution G A stop_gained W100* 299G>A PBCA-DE 8 22415664 22415664 single base substitution G A stop_gained W146* 437G>A PBCA-DE 8 22415664 22415664 single base substitution G A stop_gained W82* 245G>A PBCA-DE 8 22415664 22415664 single base substitution G A upstream_gene_variant PBCA-DE 8 22425673 22425673 single base substitution C A downstream_gene_variant PBCA-DE 8 22425673 22425673 single base substitution C A intron_variant PBCA-DE 8 22425673 22425673 single base substitution C A upstream_gene_variant PBCA-DE 8 22434165 22434165 single base substitution A G downstream_gene_variant PRAD-CA 8 22410295 22410295 single base substitution G C intron_variant PRAD-CA 8 22410295 22410295 single base substitution G C upstream_gene_variant PRAD-CA 8 22437101 22437101 single base substitution G A downstream_gene_variant PRAD-UK 8 22404772 22404772 single base substitution T G intron_variant PRAD-UK 8 22404772 22404772 single base substitution T G upstream_gene_variant PRAD-UK 8 22437243 22437243 single base substitution T G downstream_gene_variant PRAD-US 8 22415644 22415644 single base substitution C T downstream_gene_variant PRAD-US 8 22415644 22415644 single base substitution C T splice_region_variant PRAD-US 8 22415644 22415644 single base substitution C T upstream_gene_variant PRAD-US 8 22415670 22415670 single base substitution G A downstream_gene_variant PRAD-US 8 22415670 22415670 single base substitution G A exon_variant PRAD-US 8 22415670 22415670 single base substitution G A missense_variant R102Q 305G>A PRAD-US 8 22415670 22415670 single base substitution G A missense_variant R148Q 443G>A PRAD-US 8 22415670 22415670 single base substitution G A missense_variant R84Q 251G>A PRAD-US 8 22415670 22415670 single base substitution G A upstream_gene_variant READ-US 8 22398232 22398232 single base substitution G A upstream_gene_variant READ-US 8 22428658 22428658 single base substitution T C downstream_gene_variant READ-US 8 22428658 22428658 single base substitution T C exon_variant READ-US 8 22428658 22428658 single base substitution T C missense_variant I167T 500T>C READ-US 8 22428658 22428658 single base substitution T C missense_variant I214T 641T>C READ-US 8 22428658 22428658 single base substitution T C missense_variant I227T 680T>C READ-US 8 22428658 22428658 single base substitution T C missense_variant I556T 1667T>C READ-US 8 22428658 22428658 single base substitution T C missense_variant I67T 200T>C READ-US 8 22428658 22428658 single base substitution T C upstream_gene_variant RECA-EU 8 22398111 22398111 single base substitution T A upstream_gene_variant RECA-EU 8 22400282 22400282 single base substitution G T upstream_gene_variant RECA-EU 8 22406298 22406298 single base substitution T C intron_variant RECA-EU 8 22406298 22406298 single base substitution T C upstream_gene_variant RECA-EU 8 22435731 22435731 single base substitution C A downstream_gene_variant SKCA-BR 8 22400309 22400309 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 8 22406007 22406007 single base substitution T C intron_variant SKCA-BR 8 22406007 22406007 single base substitution T C upstream_gene_variant SKCA-BR 8 22407229 22407229 single base substitution T C intron_variant SKCA-BR 8 22407229 22407229 single base substitution T C upstream_gene_variant SKCA-BR 8 22407241 22407241 single base substitution A C intron_variant SKCA-BR 8 22407241 22407241 single base substitution A C upstream_gene_variant SKCA-BR 8 22408619 22408619 single base substitution A C intron_variant SKCA-BR 8 22408619 22408619 single base substitution A C upstream_gene_variant SKCA-BR 8 22408629 22408629 single base substitution T C intron_variant SKCA-BR 8 22408629 22408629 single base substitution T C upstream_gene_variant SKCA-BR 8 22408634 22408634 single base substitution T C intron_variant SKCA-BR 8 22408634 22408634 single base substitution T C upstream_gene_variant SKCA-BR 8 22417569 22417569 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 8 22417569 22417569 insertion of <=200bp - CA intron_variant SKCA-BR 8 22417569 22417569 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 8 22418379 22418387 deletion of <=200bp TGTGTGTGC - downstream_gene_variant SKCA-BR 8 22418379 22418387 deletion of <=200bp TGTGTGTGC - intron_variant SKCA-BR 8 22418379 22418387 deletion of <=200bp TGTGTGTGC - upstream_gene_variant SKCA-BR 8 22418381 22418387 deletion of <=200bp TGTGTGC - downstream_gene_variant SKCA-BR 8 22418381 22418387 deletion of <=200bp TGTGTGC - intron_variant SKCA-BR 8 22418381 22418387 deletion of <=200bp TGTGTGC - upstream_gene_variant SKCA-BR 8 22418383 22418383 single base substitution T C downstream_gene_variant SKCA-BR 8 22418383 22418383 single base substitution T C intron_variant SKCA-BR 8 22418383 22418383 single base substitution T C upstream_gene_variant SKCA-BR 8 22420908 22420908 single base substitution T G downstream_gene_variant SKCA-BR 8 22420908 22420908 single base substitution T G intron_variant SKCA-BR 8 22420908 22420908 single base substitution T G upstream_gene_variant SKCA-BR 8 22423152 22423152 single base substitution C G downstream_gene_variant SKCA-BR 8 22423152 22423152 single base substitution C G exon_variant SKCA-BR 8 22423152 22423152 single base substitution C G intron_variant SKCA-BR 8 22423152 22423152 single base substitution C G upstream_gene_variant SKCA-BR 8 22423611 22423611 single base substitution C G 5_prime_UTR_variant SKCA-BR 8 22423611 22423611 single base substitution C G downstream_gene_variant SKCA-BR 8 22423611 22423611 single base substitution C G exon_variant SKCA-BR 8 22423611 22423611 single base substitution C G intron_variant SKCA-BR 8 22423611 22423611 single base substitution C G upstream_gene_variant SKCA-BR 8 22423635 22423635 single base substitution G C 5_prime_UTR_variant SKCA-BR 8 22423635 22423635 single base substitution G C downstream_gene_variant SKCA-BR 8 22423635 22423635 single base substitution G C exon_variant SKCA-BR 8 22423635 22423635 single base substitution G C intron_variant SKCA-BR 8 22423635 22423635 single base substitution G C upstream_gene_variant SKCA-BR 8 22426604 22426604 single base substitution A C downstream_gene_variant SKCA-BR 8 22426604 22426604 single base substitution A C intron_variant SKCA-BR 8 22426604 22426604 single base substitution A C upstream_gene_variant SKCA-BR 8 22426949 22426949 single base substitution T C downstream_gene_variant SKCA-BR 8 22426949 22426949 single base substitution T C intron_variant SKCA-BR 8 22426949 22426949 single base substitution T C upstream_gene_variant SKCA-BR 8 22429227 22429227 single base substitution C T downstream_gene_variant SKCA-BR 8 22429227 22429227 single base substitution C T intron_variant SKCA-BR 8 22429227 22429227 single base substitution C T missense_variant P8L 23C>T SKCA-BR 8 22429227 22429227 single base substitution C T splice_region_variant SKCA-BR 8 22429227 22429227 single base substitution C T upstream_gene_variant SKCA-BR 8 22429690 22429690 single base substitution G A downstream_gene_variant SKCA-BR 8 22429690 22429690 single base substitution G A intron_variant SKCA-BR 8 22429690 22429690 single base substitution G A upstream_gene_variant SKCA-BR 8 22431293 22431293 single base substitution C T downstream_gene_variant SKCA-BR 8 22431293 22431293 single base substitution C T intron_variant SKCA-BR 8 22431883 22431883 single base substitution C T downstream_gene_variant SKCA-BR 8 22431883 22431883 single base substitution C T intron_variant SKCA-BR 8 22433029 22433029 single base substitution C T 3_prime_UTR_variant SKCA-BR 8 22433029 22433029 single base substitution C T downstream_gene_variant SKCA-BR 8 22433415 22433415 insertion of <=200bp - TTG downstream_gene_variant SKCA-BR 8 22435940 22435940 single base substitution G A downstream_gene_variant SKCA-BR 8 22438229 22438229 single base substitution A G downstream_gene_variant SKCM-US 8 22414247 22414247 single base substitution C T downstream_gene_variant SKCM-US 8 22414247 22414247 single base substitution C T exon_variant SKCM-US 8 22414247 22414247 single base substitution C T synonymous_variant T16T 48C>T SKCM-US 8 22414247 22414247 single base substitution C T synonymous_variant T34T 102C>T SKCM-US 8 22414247 22414247 single base substitution C T synonymous_variant T80T 240C>T SKCM-US 8 22414247 22414247 single base substitution C T upstream_gene_variant SKCM-US 8 22424682 22424682 single base substitution T G downstream_gene_variant SKCM-US 8 22424682 22424682 single base substitution T G exon_variant SKCM-US 8 22424682 22424682 single base substitution T G stop_gained Y104* 312T>G SKCM-US 8 22424682 22424682 single base substitution T G stop_gained Y433* 1299T>G SKCM-US 8 22424682 22424682 single base substitution T G stop_gained Y44* 132T>G SKCM-US 8 22424682 22424682 single base substitution T G stop_gained Y91* 273T>G SKCM-US 8 22424682 22424682 single base substitution T G upstream_gene_variant SKCM-US 8 22428628 22428628 single base substitution C T downstream_gene_variant SKCM-US 8 22428628 22428628 single base substitution C T exon_variant SKCM-US 8 22428628 22428628 single base substitution C T missense_variant P157L 470C>T SKCM-US 8 22428628 22428628 single base substitution C T missense_variant P204L 611C>T SKCM-US 8 22428628 22428628 single base substitution C T missense_variant P217L 650C>T SKCM-US 8 22428628 22428628 single base substitution C T missense_variant P546L 1637C>T SKCM-US 8 22428628 22428628 single base substitution C T missense_variant P57L 170C>T SKCM-US 8 22428628 22428628 single base substitution C T upstream_gene_variant SKCM-US 8 22428684 22428684 single base substitution C T downstream_gene_variant SKCM-US 8 22428684 22428684 single base substitution C T exon_variant SKCM-US 8 22428684 22428684 single base substitution C T missense_variant R176C 526C>T SKCM-US 8 22428684 22428684 single base substitution C T missense_variant R223C 667C>T SKCM-US 8 22428684 22428684 single base substitution C T missense_variant R236C 706C>T SKCM-US 8 22428684 22428684 single base substitution C T missense_variant R565C 1693C>T SKCM-US 8 22428684 22428684 single base substitution C T missense_variant R76C 226C>T SKCM-US 8 22428684 22428684 single base substitution C T upstream_gene_variant SKCM-US 8 22429260 22429260 single base substitution C T downstream_gene_variant SKCM-US 8 22429260 22429260 single base substitution C T exon_variant SKCM-US 8 22429260 22429260 single base substitution C T missense_variant P19L 56C>T SKCM-US 8 22429260 22429260 single base substitution C T synonymous_variant S102S 306C>T SKCM-US 8 22429260 22429260 single base substitution C T synonymous_variant S202S 606C>T SKCM-US 8 22429260 22429260 single base substitution C T synonymous_variant S249S 747C>T SKCM-US 8 22429260 22429260 single base substitution C T synonymous_variant S262S 786C>T SKCM-US 8 22429260 22429260 single base substitution C T synonymous_variant S591S 1773C>T SKCM-US 8 22429260 22429260 single base substitution C T upstream_gene_variant SKCM-US 8 22429332 22429332 single base substitution C T downstream_gene_variant SKCM-US 8 22429332 22429332 single base substitution C T missense_variant P43L 128C>T SKCM-US 8 22429332 22429332 single base substitution C T splice_region_variant SKCM-US 8 22429332 22429332 single base substitution C T synonymous_variant T226T 678C>T SKCM-US 8 22429332 22429332 single base substitution C T upstream_gene_variant STAD-US 8 22414348 22414348 single base substitution G A downstream_gene_variant STAD-US 8 22414348 22414348 single base substitution G A exon_variant STAD-US 8 22414348 22414348 single base substitution G A missense_variant R114Q 341G>A STAD-US 8 22414348 22414348 single base substitution G A missense_variant R50Q 149G>A STAD-US 8 22414348 22414348 single base substitution G A missense_variant R68Q 203G>A STAD-US 8 22414348 22414348 single base substitution G A upstream_gene_variant STAD-US 8 22415705 22415705 single base substitution G A downstream_gene_variant STAD-US 8 22415705 22415705 single base substitution G A missense_variant D160N 478G>A STAD-US 8 22415705 22415705 single base substitution G A missense_variant D96N 286G>A STAD-US 8 22415705 22415705 single base substitution G A missense_variant E114K 340G>A STAD-US 8 22415705 22415705 single base substitution G A splice_region_variant STAD-US 8 22415705 22415705 single base substitution G A upstream_gene_variant STAD-US 8 22424653 22424653 single base substitution G A downstream_gene_variant STAD-US 8 22424653 22424653 single base substitution G A exon_variant STAD-US 8 22424653 22424653 single base substitution G A missense_variant G35S 103G>A STAD-US 8 22424653 22424653 single base substitution G A missense_variant G424S 1270G>A STAD-US 8 22424653 22424653 single base substitution G A missense_variant G82S 244G>A STAD-US 8 22424653 22424653 single base substitution G A missense_variant G95S 283G>A STAD-US 8 22424653 22424653 single base substitution G A upstream_gene_variant STAD-US 8 22428492 22428492 single base substitution C T downstream_gene_variant STAD-US 8 22428492 22428492 single base substitution C T exon_variant STAD-US 8 22428492 22428492 single base substitution C T missense_variant R112C 334C>T STAD-US 8 22428492 22428492 single base substitution C T missense_variant R12C 34C>T STAD-US 8 22428492 22428492 single base substitution C T missense_variant R159C 475C>T STAD-US 8 22428492 22428492 single base substitution C T missense_variant R172C 514C>T STAD-US 8 22428492 22428492 single base substitution C T missense_variant R501C 1501C>T STAD-US 8 22428492 22428492 single base substitution C T upstream_gene_variant STAD-US 8 22428560 22428560 single base substitution C T downstream_gene_variant STAD-US 8 22428560 22428560 single base substitution C T exon_variant STAD-US 8 22428560 22428560 single base substitution C T synonymous_variant D134D 402C>T STAD-US 8 22428560 22428560 single base substitution C T synonymous_variant D181D 543C>T STAD-US 8 22428560 22428560 single base substitution C T synonymous_variant D194D 582C>T STAD-US 8 22428560 22428560 single base substitution C T synonymous_variant D34D 102C>T STAD-US 8 22428560 22428560 single base substitution C T synonymous_variant D523D 1569C>T STAD-US 8 22428560 22428560 single base substitution C T upstream_gene_variant STAD-US 8 22428603 22428603 single base substitution C T downstream_gene_variant STAD-US 8 22428603 22428603 single base substitution C T exon_variant STAD-US 8 22428603 22428603 single base substitution C T missense_variant R149C 445C>T STAD-US 8 22428603 22428603 single base substitution C T missense_variant R196C 586C>T STAD-US 8 22428603 22428603 single base substitution C T missense_variant R209C 625C>T STAD-US 8 22428603 22428603 single base substitution C T missense_variant R49C 145C>T STAD-US 8 22428603 22428603 single base substitution C T missense_variant R538C 1612C>T STAD-US 8 22428603 22428603 single base substitution C T upstream_gene_variant STAD-US 8 22428685 22428685 single base substitution G A downstream_gene_variant STAD-US 8 22428685 22428685 single base substitution G A exon_variant STAD-US 8 22428685 22428685 single base substitution G A missense_variant R176H 527G>A STAD-US 8 22428685 22428685 single base substitution G A missense_variant R223H 668G>A STAD-US 8 22428685 22428685 single base substitution G A missense_variant R236H 707G>A STAD-US 8 22428685 22428685 single base substitution G A missense_variant R565H 1694G>A STAD-US 8 22428685 22428685 single base substitution G A missense_variant R76H 227G>A STAD-US 8 22428685 22428685 single base substitution G A upstream_gene_variant THCA-SA 8 22398161 22398161 single base substitution G A upstream_gene_variant THCA-SA 8 22432322 22432322 deletion of <=200bp A - 3_prime_UTR_variant THCA-SA 8 22432322 22432322 deletion of <=200bp A - downstream_gene_variant THCA-SA 8 22432322 22432322 deletion of <=200bp A - exon_variant THCA-SA 8 22432322 22432322 deletion of <=200bp A - frameshift_variant H127 THCA-SA 8 22432322 22432322 deletion of <=200bp A - intron_variant THCA-SA 8 22436717 22436717 single base substitution G A downstream_gene_variant THCA-SA 8 22436724 22436724 single base substitution T G downstream_gene_variant THCA-US 8 22428458 22428458 single base substitution G C 5_prime_UTR_variant THCA-US 8 22428458 22428458 single base substitution G C downstream_gene_variant THCA-US 8 22428458 22428458 single base substitution G C exon_variant THCA-US 8 22428458 22428458 single base substitution G C missense_variant E100D 300G>C THCA-US 8 22428458 22428458 single base substitution G C missense_variant E147D 441G>C THCA-US 8 22428458 22428458 single base substitution G C missense_variant E160D 480G>C THCA-US 8 22428458 22428458 single base substitution G C missense_variant E489D 1467G>C THCA-US 8 22428458 22428458 single base substitution G C upstream_gene_variant UCEC-US 8 22398143 22398143 single base substitution C T upstream_gene_variant UCEC-US 8 22398195 22398195 single base substitution T C upstream_gene_variant UCEC-US 8 22414410 22414410 single base substitution G A downstream_gene_variant UCEC-US 8 22414410 22414410 single base substitution G A exon_variant UCEC-US 8 22414410 22414410 single base substitution G A missense_variant A135T 403G>A UCEC-US 8 22414410 22414410 single base substitution G A missense_variant A71T 211G>A UCEC-US 8 22414410 22414410 single base substitution G A missense_variant A89T 265G>A UCEC-US 8 22414410 22414410 single base substitution G A upstream_gene_variant UCEC-US 8 22423920 22423920 single base substitution T C 5_prime_UTR_variant UCEC-US 8 22423920 22423920 single base substitution T C downstream_gene_variant UCEC-US 8 22423920 22423920 single base substitution T C exon_variant UCEC-US 8 22423920 22423920 single base substitution T C intron_variant UCEC-US 8 22423920 22423920 single base substitution T C missense_variant L338P 1013T>C UCEC-US 8 22423920 22423920 single base substitution T C upstream_gene_variant UCEC-US 8 22423964 22423964 single base substitution C T 3_prime_UTR_variant UCEC-US 8 22423964 22423964 single base substitution C T downstream_gene_variant UCEC-US 8 22423964 22423964 single base substitution C T exon_variant UCEC-US 8 22423964 22423964 single base substitution C T intron_variant UCEC-US 8 22423964 22423964 single base substitution C T missense_variant R11W 31C>T UCEC-US 8 22423964 22423964 single base substitution C T missense_variant R353W 1057C>T UCEC-US 8 22423964 22423964 single base substitution C T upstream_gene_variant UCEC-US 8 22423995 22423995 single base substitution G A downstream_gene_variant UCEC-US 8 22423995 22423995 single base substitution G A intron_variant UCEC-US 8 22423995 22423995 single base substitution G A missense_variant R21Q 62G>A UCEC-US 8 22423995 22423995 single base substitution G A missense_variant R363Q 1088G>A UCEC-US 8 22423995 22423995 single base substitution G A splice_region_variant UCEC-US 8 22423995 22423995 single base substitution G A upstream_gene_variant UCEC-US 8 22424370 22424370 single base substitution G A downstream_gene_variant UCEC-US 8 22424370 22424370 single base substitution G A exon_variant UCEC-US 8 22424370 22424370 single base substitution G A synonymous_variant A393A 1179G>A UCEC-US 8 22424370 22424370 single base substitution G A synonymous_variant A51A 153G>A UCEC-US 8 22424370 22424370 single base substitution G A synonymous_variant A64A 192G>A UCEC-US 8 22424370 22424370 single base substitution G A upstream_gene_variant UCEC-US 8 22428455 22428455 single base substitution C T downstream_gene_variant UCEC-US 8 22428455 22428455 single base substitution C T exon_variant UCEC-US 8 22428455 22428455 single base substitution C T synonymous_variant N146N 438C>T UCEC-US 8 22428455 22428455 single base substitution C T synonymous_variant N159N 477C>T UCEC-US 8 22428455 22428455 single base substitution C T synonymous_variant N488N 1464C>T UCEC-US 8 22428455 22428455 single base substitution C T synonymous_variant N99N 297C>T UCEC-US 8 22428455 22428455 single base substitution C T upstream_gene_variant UCEC-US 8 22428561 22428561 single base substitution G A downstream_gene_variant UCEC-US 8 22428561 22428561 single base substitution G A exon_variant UCEC-US 8 22428561 22428561 single base substitution G A missense_variant G135S 403G>A UCEC-US 8 22428561 22428561 single base substitution G A missense_variant G182S 544G>A UCEC-US 8 22428561 22428561 single base substitution G A missense_variant G195S 583G>A UCEC-US 8 22428561 22428561 single base substitution G A missense_variant G35S 103G>A UCEC-US 8 22428561 22428561 single base substitution G A missense_variant G524S 1570G>A UCEC-US 8 22428561 22428561 single base substitution G A upstream_gene_variant UCEC-US 8 22428660 22428660 single base substitution G A downstream_gene_variant UCEC-US 8 22428660 22428660 single base substitution G A exon_variant UCEC-US 8 22428660 22428660 single base substitution G A missense_variant D168N 502G>A UCEC-US 8 22428660 22428660 single base substitution G A missense_variant D215N 643G>A UCEC-US 8 22428660 22428660 single base substitution G A missense_variant D228N 682G>A UCEC-US 8 22428660 22428660 single base substitution G A missense_variant D557N 1669G>A UCEC-US 8 22428660 22428660 single base substitution G A missense_variant D68N 202G>A UCEC-US 8 22428660 22428660 single base substitution G A upstream_gene_variant UCEC-US 8 22429892 22429892 single base substitution C T downstream_gene_variant UCEC-US 8 22429892 22429892 single base substitution C T exon_variant UCEC-US 8 22429892 22429892 single base substitution C T missense_variant T57M 170C>T UCEC-US 8 22429892 22429892 single base substitution C T synonymous_variant D140D 420C>T UCEC-US 8 22429892 22429892 single base substitution C T synonymous_variant D287D 861C>T UCEC-US 8 22429892 22429892 single base substitution C T synonymous_variant D629D 1887C>T UCEC-US 8 22429892 22429892 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 PD5935a COSM5771930 c.1569C>A p.D523E Substitution - Missense 8:22571047-22571047 + GC_299T1-GC_299N COSM4772520 c.1724A>G p.E575G Substitution - Missense 8:22571202-22571202 + Pat_41_B COSM5874381 c.1135G>A p.E379K Substitution - Missense 8:22566705-22566705 + OSCC-GB_00150111 COSM1313927 c.154G>A p.D52N Substitution - Missense 8:22554914-22554914 + TCGA-CA-6717-01 COSM1456099 c.46G>A p.D16N Substitution - Missense 8:22554552-22554552 + ESO-859 COSM1240282 c.1569C>T p.D523D Substitution - coding silent 8:22571047-22571047 + 26 COSM5748671 c.1031C>T p.A344V Substitution - Missense 8:22566425-22566425 + TCGA-BT-A2LA-01 COSM1313927 c.154G>A p.D52N Substitution - Missense 8:22554914-22554914 + LU-1991 COSM5617459 c.1306-10C>T p.? Unknown 8:22569138-22569138 + TCGA-39-5039-01 COSM750072 c.1994G>T p.G665V Substitution - Missense 8:22574706-22574706 + CSCC-11-T COSM4467922 c.1515C>T p.F505F Substitution - coding silent 8:22570993-22570993 + Gp2D COSM2786235 c.1688delC p.R565fs*>107 Deletion - Frameshift 8:22571166-22571166 + 15T COSM1313927 c.154G>A p.D52N Substitution - Missense 8:22554914-22554914 + TCGA-A2-A0T5-01 COSM3834432 c.1191-8A>C p.? Unknown 8:22567053-22567053 + B9-Tumor COSM4006919 c.65T>A p.L22H Substitution - Missense 8:22554571-22554571 + DLD1 COSM4626205 c.199C>T p.R67* Substitution - Nonsense 8:22554959-22554959 + TCGA-BG-A0M4-01 COSM1098110 c.1013T>C p.L338P Substitution - Missense 8:22566407-22566407 + PD24205a COSM5476810 c.1346C>T p.P449L Substitution - Missense 8:22569188-22569188 + TCGA-18-3409-01 COSM750076 c.354G>A p.W118* Substitution - Nonsense 8:22556848-22556848 + YUNEKI COSM5409215 c.382G>A p.D128N Substitution - Missense 8:22556876-22556876 + ICGC_MB1 COSM216105 c.437G>A p.W146* Substitution - Nonsense 8:22558151-22558151 + PD13163a COSM5770247 c.373G>T p.G125W Substitution - Missense 8:22556867-22556867 + TCGA-AP-A051-01 COSM1098117 c.1887C>T p.D629D Substitution - coding silent 8:22572379-22572379 + TCGA-EI-6917-01 COSM3750126 c.1667T>C p.I556T Substitution - Missense 8:22571145-22571145 + DN120F1 COSM5770247 c.373G>T p.G125W Substitution - Missense 8:22556867-22556867 + TCGA-AY-6386-01 COSM3750126 c.1667T>C p.I556T Substitution - Missense 8:22571145-22571145 + CHC361TA COSM3669882 c.784G>A p.D262N Substitution - Missense 8:22564489-22564489 + HRA19 COSM4638050 c.225T>C p.P75P Substitution - coding silent 8:22556719-22556719 + 585260 COSM323520 c.530T>C p.L177P Substitution - Missense 8:22561877-22561877 + LS411 COSM2786196 c.110T>C p.V37A Substitution - Missense 8:22554870-22554870 + TCGA-AA-3663-01 COSM1456100 c.1815C>A p.S605S Substitution - coding silent 8:22571789-22571789 + T3262 COSM4729035 c.187T>C p.Y63H Substitution - Missense 8:22554947-22554947 + EGC8 COSM5063042 c.354G>T p.W118C Substitution - Missense 8:22556848-22556848 + 2497781 COSM5751099 c.812T>C p.I271T Substitution - Missense 8:22564517-22564517 + TCGA-BR-A4QL-01 COSM3898945 c.1270G>A p.G424S Substitution - Missense 8:22567140-22567140 + TCGA-EE-A2A0-06 COSM3647294 c.1637C>T p.P546L Substitution - Missense 8:22571115-22571115 + TCGA-B5-A11Y-01 COSM1098111 c.1057C>T p.R353W Substitution - Missense 8:22566451-22566451 + KM12 COSM2786188 c.9C>T p.G3G Substitution - coding silent 8:22554515-22554515 + TCGA-GF-A6C8-06 COSM3925013 c.240C>T p.T80T Substitution - coding silent 8:22556734-22556734 + TCGA-34-5929-01 COSM750075 c.357C>T p.V119V Substitution - coding silent 8:22556851-22556851 + 2521260 COSM3898948 c.1694G>A p.R565H Substitution - Missense 8:22571172-22571172 + TCGA-EE-A3J5-06 COSM3647293 c.1299T>G p.Y433* Substitution - Nonsense 8:22567169-22567169 + CHC361TA COSM3669882 c.784G>A p.D262N Substitution - Missense 8:22564489-22564489 + PD11345a COSM5789846 c.1432-3C>G p.? Unknown 8:22570907-22570907 + 522_T COSM3951509 c.1807G>T p.G603W Substitution - Missense 8:22571781-22571781 + TCGA-A8-A09Q-01 COSM5835530 c.1711_1712insC p.F571fs*7 Insertion - Frameshift 8:22571189-22571190 + TCGA-FP-7829-01 COSM3898943 c.341G>A p.R114Q Substitution - Missense 8:22556835-22556835 + TCGA-HU-A4GX-01 COSM3898947 c.1612C>T p.R538C Substitution - Missense 8:22571090-22571090 + H1155 COSM1195614 c.1426C>T p.R476C Substitution - Missense 8:22569268-22569268 + TCGA-D1-A103-01 COSM1098113 c.1179G>A p.A393A Substitution - coding silent 8:22566857-22566857 + HCC115T COSM5807080 c.983A>G p.H328R Substitution - Missense 8:22566377-22566377 + C467 COSM4442250 c.1549C>T p.R517W Substitution - Missense 8:22571027-22571027 + PD9467a COSM5789430 c.1567G>A p.D523N Substitution - Missense 8:22571045-22571045 + TCGA-AF-6655-01 COSM3750126 c.1667T>C p.I556T Substitution - Missense 8:22571145-22571145 + TCGA-D8-A1JP-01 COSM1489185 c.1143G>A p.K381K Substitution - coding silent 8:22566713-22566713 + RKO COSM4649210 c.1203G>A p.L401L Substitution - coding silent 8:22567073-22567073 + Pat_16_B COSM5874382 c.1739C>T p.T580I Substitution - Missense 8:22571217-22571217 + HCC066T COSM5821596 c.293A>T p.Q98L Substitution - Missense 8:22556787-22556787 + TCGA-HJ-7597-01 COSM3898946 c.1501C>T p.R501C Substitution - Missense 8:22570979-22570979 + TCGA-CH-5769-01 COSM3784140 c.417C>T p.S139S Substitution - coding silent 8:22558131-22558131 + CSCC-17-T COSM4503955 c.651C>T p.S217S Substitution - coding silent 8:22564053-22564053 + TCGA-D1-A17U-01 COSM1098118 c.1967G>T p.R656M Substitution - Missense 8:22574679-22574679 + pfg008T COSM1643566 c.1345C>A p.P449T Substitution - Missense 8:22569187-22569187 + T3262 COSM2786235 c.1688delC p.R565fs*>107 Deletion - Frameshift 8:22571166-22571166 + TCGA-EE-A3J5-06 COSM3647297 c.1845C>T p.T615T Substitution - coding silent 8:22571819-22571819 + TCGA-BH-A0C0-01 COSM454316 c.572C>A p.T191K Substitution - Missense 8:22561919-22561919 + PTC-70C COSM4162915 c.1671C>T p.D557D Substitution - coding silent 8:22571149-22571149 + pfg008T COSM1643566 c.1345C>A p.P449T Substitution - Missense 8:22569187-22569187 + YUKLAB COSM1699803 c.1178C>T p.A393V Substitution - Missense 8:22566856-22566856 + SC_9008 COSM5562462 c.1327C>T p.P443S Substitution - Missense 8:22569169-22569169 + 2250151 COSM5029535 c.793G>A p.E265K Substitution - Missense 8:22564498-22564498 + 587278 COSM1227123 c.1609G>A p.A537T Substitution - Missense 8:22571087-22571087 + KM12 COSM2786215 c.692delA p.V233fs*1 Deletion - Frameshift 8:22564299-22564299 + TCGA-HU-A4H8-01 COSM3898948 c.1694G>A p.R565H Substitution - Missense 8:22571172-22571172 + ccRCC-11 COSM1664303 c.776T>C p.L259P Substitution - Missense 8:22564481-22564481 + TCGA-B0-5115-01 COSM486309 c.1003G>T p.A335S Substitution - Missense 8:22566397-22566397 + 938T COSM5825245 c.1107C>T p.N369N Substitution - coding silent 8:22566677-22566677 + TCGA-DJ-A1QM-01 COSM3374862 c.1467G>C p.E489D Substitution - Missense 8:22570945-22570945 + ESCC-190T COSM3942604 c.1089A>T p.R363R Substitution - coding silent 8:22566483-22566483 + Pat_24_A COSM5874380 c.410G>A p.R137Q Substitution - Missense 8:22556904-22556904 + 16989 COSM5617459 c.1306-10C>T p.? Unknown 8:22569138-22569138 + 8057559 COSM3395239 c.391G>C p.G131R Substitution - Missense 8:22556885-22556885 + TCGA-EK-A2PM-01 COSM4831427 c.554A>G p.H185R Substitution - Missense 8:22561901-22561901 + C004 COSM5521900 c.723C>T p.S241S Substitution - coding silent 8:22564330-22564330 + G6 COSM1191977 c.390C>A p.S130R Substitution - Missense 8:22556884-22556884 + CSCC-31-T COSM4500220 c.55C>T p.P19S Substitution - Missense 8:22554561-22554561 + PD7207a COSM5798058 c.865G>C p.D289H Substitution - Missense 8:22565316-22565316 + TCGA-BT-A2LA-01 COSM1313928 c.1882G>A p.E628K Substitution - Missense 8:22572374-22572374 + DLD1 COSM2786192 c.27C>T p.R9R Substitution - coding silent 8:22554533-22554533 + TCGA-AP-A059-01 COSM1098109 c.403G>A p.A135T Substitution - Missense 8:22556897-22556897 + TCGA-B5-A11U-01 COSM1098114 c.1464C>T p.N488N Substitution - coding silent 8:22570942-22570942 + Gp5D COSM2786235 c.1688delC p.R565fs*>107 Deletion - Frameshift 8:22571166-22571166 + sysucc-1317T COSM5447955 c.1453C>T p.R485C Substitution - Missense 8:22570931-22570931 + 587224 COSM1227122 c.526C>T p.H176Y Substitution - Missense 8:22561873-22561873 + LUAD-D01751 COSM338382 c.1462A>T p.N488Y Substitution - Missense 8:22570940-22570940 + TCGA-KK-A59V-01 COSM4878970 c.443G>A p.R148Q Substitution - Missense 8:22558157-22558157 + TCGA-EE-A2ME-06 COSM3647296 c.1773C>T p.S591S Substitution - coding silent 8:22571747-22571747 + YUWAND COSM1699802 c.413C>T p.S138F Substitution - Missense 8:22556907-22556907 + 8051054 COSM3395238 c.295C>T p.H99Y Substitution - Missense 8:22556789-22556789 + Pat_63_B COSM5874383 c.1743+2T>G p.? Unknown 8:22571223-22571223 + TCGA-AP-A0LM-01 COSM1098116 c.1669G>A p.D557N Substitution - Missense 8:22571147-22571147 + TCGA-BR-8483-01 COSM1240282 c.1569C>T p.D523D Substitution - coding silent 8:22571047-22571047 + TCGA-AG-A032-01 COSM290765 c.306C>G p.N102K Substitution - Missense 8:22556800-22556800 + C547 COSM4442560 c.467G>A p.R156Q Substitution - Missense 8:22558181-22558181 + CSCC-45-T COSM4564736 c.1399_1400GG>AA p.G467K Substitution - Missense 8:22569241-22569242 + TCGA-GD-A3OS-01 COSM1313926 c.128C>T p.S43F Substitution - Missense 8:22554888-22554888 + PTC-7C COSM3750126 c.1667T>C p.I556T Substitution - Missense 8:22571145-22571145 + TCGA-A8-A07R-01 COSM5835529 c.403_404insC p.R137fs*5 Insertion - Frameshift 8:22556897-22556898 + TCGA-AG-A02N-01 COSM5075007 c.1190+6C>T p.? Unknown 8:22566874-22566874 + sysucc-274T COSM5476810 c.1346C>T p.P449L Substitution - Missense 8:22569188-22569188 + TCGA-CG-5723-01 COSM3898944 c.478G>A p.D160N Substitution - Missense 8:22558192-22558192 + CSCC-35-T COSM4553587 c.595G>A p.D199N Substitution - Missense 8:22563997-22563997 + 587220 COSM1227121 c.59G>A p.G20D Substitution - Missense 8:22554565-22554565 + TCGA-EB-A431-01 COSM3647295 c.1693C>T p.R565C Substitution - Missense 8:22571171-22571171 + TCGA-EK-A2PK-01 COSM4819976 c.391G>T p.G131C Substitution - Missense 8:22556885-22556885 + TCGA-46-3769-01 COSM750073 c.714G>C p.T238T Substitution - coding silent 8:22564321-22564321 + TCGA-D1-A177-01 COSM1098115 c.1570G>A p.G524S Substitution - Missense 8:22571048-22571048 + BD114T COSM5503350 c.1642G>A p.A548T Substitution - Missense 8:22571120-22571120 + TCGA-AH-6644-01 COSM5075735 c.1091-9T>G p.? Unknown 8:22566652-22566652 + TCGA-BR-A4QL-01 COSM3898947 c.1612C>T p.R538C Substitution - Missense 8:22571090-22571090 + YUNEKI COSM5409214 c.381G>A p.V127V Substitution - coding silent 8:22556875-22556875 + DN120A6 COSM5789846 c.1432-3C>G p.? Unknown 8:22570907-22570907 + pfg019T COSM1643565 c.159C>T p.P53P Substitution - coding silent 8:22554919-22554919 + TCGA-AX-A05Z-01 COSM1098112 c.1088G>A p.R363Q Substitution - Missense 8:22566482-22566482 + Au10 COSM5598806 c.11C>T p.P4L Substitution - Missense 8:22554517-22554517 + Pat_16_A COSM5874382 c.1739C>T p.T580I Substitution - Missense 8:22571217-22571217 + TCGA-BR-6458-01 COSM1240282 c.1569C>T p.D523D Substitution - coding silent 8:22571047-22571047 + TCGA-F4-6703-01 COSM3750126 c.1667T>C p.I556T Substitution - Missense 8:22571145-22571145 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.528546;Hs.528572 8p21.3 610795 2406495|CGAP|BC091514|A/C|non-coding||2491|Validated; 1518979|dbSNP|BC091514|A/C|non-coding||3115|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.518-200A>C 8 22419178 HC C A 3-UTRSNV . c.2013+138C>A 8 22432376 ESCA C A Missense p.P449T c.1345C>A 8 22426700 STAD C A Missense p.T191K c.572C>A 8 22419432 BRCA C A Synonymous p.R156R c.466C>A 8 22415693 LUAD C G Missense p.N102K c.306C>G 8 22414313 COREAD C T 3-UTRSNV . c.2013+77C>T 8 22432315 CM C T IntronicSNV . c.1306-10C>T 8 22426651 NSCLC C T IntronicSNV . c.1-74C>T 8 22411946 CM C T IntronicSNV . c.517+57C>T 8 22418943 CM C T Missense p.P126L c.377C>T 8 22414384 CM C T Missense p.P546L c.1637C>T 8 22428628 CM C T Missense p.R353W c.1057C>T 8 22423964 UCEC C T Missense p.S43F c.128C>T 8 22412401 BLCA C T Missense p.S563F c.1688C>T 8 22428679 CM C T Nonsense p.Q611* c.1831C>T 8 22429318 HNSC C T Nonsense p.Q611* c.1831C>T 8 22429318 LUAD C T Synonymous p.D523D c.1569C>T 8 22428560 STAD C T Synonymous p.F569F c.1707C>T 8 22428698 LUAD C T Synonymous p.G524G c.1572C>T 8 22428563 BRCA C T Synonymous p.I38I c.114C>T 8 22412387 CM C T Synonymous p.N488N c.1464C>T 8 22428455 UCEC C T Synonymous p.P53P c.159C>T 8 22412432 STAD C T Synonymous p.S591S c.1773C>T 8 22429260 CM C T Synonymous p.T615T c.1845C>T 8 22429332 CM C T Synonymous p.V119V c.357C>T 8 22414364 LUSC G A IntronicSNV . c.517+11G>A 8 22418897 STAD G A Missense p.D52N c.154G>A 8 22412427 BLCA G A Missense p.E628K c.1882G>A 8 22429887 BLCA G A Missense p.G524S c.1570G>A 8 22428561 UCEC G A Nonsense p.W146* c.437G>A 8 22415664 MB G A Synonymous p.E122E c.366G>A 8 22414373 LUAD G A Synonymous p.K381K c.1143G>A 8 22424226 BRCA G C Missense p.E489D c.1467G>C 8 22428458 THCA G C Missense p.G83R c.247G>C 8 22414254 RCCC G C Synonymous p.T238T c.714G>C 8 22421834 LUSC G - Frameshift p.S28Lfs*10 c.81delG 8 22412098 BRCA G - IntronicDeletion . c.478+375delG 8 22416076 CM G T Missense p.A335S c.1003G>T 8 22423910 RCCC G T Missense p.G665V c.1994G>T 8 22432219 LUSC T C Missense p.L177P c.530T>C 8 22419390 SCLC T C Missense p.L338P c.1013T>C 8 22423920 UCEC T G Nonsense p.Y433* c.1299T>G 8 22424682 CM