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 BRCA 2 162175351 162175351 + Silent SNP T T G TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 g.chr2:162175351T>G c.15T>G c.(13-15)ctT>ctG p.L5L BRCA 2 162224044 162224044 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:162224044C>T c.104C>T c.(103-105)tCc>tTc p.S35F COAD 2 162242048 162242048 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:162242048C>T c.536C>T c.(535-537)tCg>tTg p.S179L COAD 2 162242082 162242082 + Splice_Site SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr2:162242082G>A c.570G>A c.(568-570)caG>caA p.Q190Q COAD 2 162267813 162267813 + Splice_Site SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:162267813G>A c.835G>A c.(835-837)Gac>Aac p.D279N COADREAD 2 162242048 162242048 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:162242048C>T c.536C>T c.(535-537)tCg>tTg p.S179L COADREAD 2 162242082 162242082 + Splice_Site SNP G G A TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr2:162242082G>A c.570G>A c.(568-570)caG>caA p.Q190Q COADREAD 2 162247659 162247659 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:162247659T>G c.615T>G c.(613-615)atT>atG p.I205M COADREAD 2 162267813 162267813 + Splice_Site SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:162267813G>A c.835G>A c.(835-837)Gac>Aac p.D279N ESCA 2 162267813 162267813 + Splice_Site SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr2:162267813G>A c.835G>A c.(835-837)Gac>Aac p.D279N HNSC 2 162242001 162242001 + Silent SNP C C A TCGA-UF-A7JK-01A-11D-A34J-08 TCGA-UF-A7JK-10A-01D-A34M-08 g.chr2:162242001C>A c.489C>A c.(487-489)atC>atA p.I163I HNSC 2 162247657 162247657 + Missense_Mutation SNP A A G TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr2:162247657A>G c.613A>G c.(613-615)Att>Gtt p.I205V KIPAN 2 162227815 162227815 + Silent SNP T T C TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr2:162227815T>C c.444T>C c.(442-444)atT>atC p.I148I KIRP 2 162227815 162227815 + Silent SNP T T C TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chr2:162227815T>C c.444T>C c.(442-444)atT>atC p.I148I LIHC 2 162227718 162227718 + Missense_Mutation SNP C C G TCGA-CC-A3MC-01A-11D-A22F-10 TCGA-CC-A3MC-10A-01D-A22F-10 g.chr2:162227718C>G c.347C>G c.(346-348)cCt>cGt p.P116R LUAD 2 162224311 162224311 + Missense_Mutation SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr2:162224311G>A c.137G>A c.(136-138)cGt>cAt p.R46H LUAD 2 162242025 162242025 + Silent SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr2:162242025A>C c.513A>C c.(511-513)ggA>ggC p.G171G LUAD 2 162242061 162242061 + Missense_Mutation SNP C C G TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr2:162242061C>G c.549C>G c.(547-549)caC>caG p.H183Q LUSC 2 162175349 162175349 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr2:162175349C>G c.13C>G c.(13-15)Ctt>Gtt p.L5V LUSC 2 162224035 162224035 + Missense_Mutation SNP A A G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 g.chr2:162224035A>G c.95A>G c.(94-96)tAt>tGt p.Y32C LUSC 2 162242083 162242083 + Splice_Site SNP G G C TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr2:162242083G>C c.e8+1 OV 2 162175361 162175372 + In_Frame_Del DEL GGAGGTATGCCT GGAGGTATGCCT - TCGA-29-1688-01A-01W-0633-09 TCGA-29-1688-10A-01W-0633-09 g.chr2:162175361_162175372delGGAGGTATGCCT c.25_36delGGAGGTATGCCT c.(25-36)ggaggtatgcctdel p.GGMP9del PRAD 2 162224311 162224311 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:162224311G>A c.137G>A c.(136-138)cGt>cAt p.R46H READ 2 162247659 162247659 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:162247659T>G c.615T>G c.(613-615)atT>atG p.I205M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 162273101 162273101 single base substitution G A downstream_gene_variant BLCA-US 2 162273127 162273127 single base substitution C T downstream_gene_variant BOCA-FR 2 162231264 162231264 single base substitution T A downstream_gene_variant BOCA-FR 2 162231264 162231264 single base substitution T A intron_variant BRCA-EU 2 162162137 162162137 single base substitution C G upstream_gene_variant BRCA-EU 2 162162208 162162208 single base substitution T A upstream_gene_variant BRCA-EU 2 162162729 162162729 single base substitution C G upstream_gene_variant BRCA-EU 2 162164520 162164520 single base substitution C G upstream_gene_variant BRCA-EU 2 162165466 162165466 single base substitution A G intron_variant BRCA-EU 2 162167866 162167866 deletion of <=200bp T - intron_variant BRCA-EU 2 162168100 162168100 single base substitution T C intron_variant BRCA-EU 2 162168503 162168503 single base substitution C G intron_variant BRCA-EU 2 162169188 162169188 single base substitution A G intron_variant BRCA-EU 2 162169872 162169872 single base substitution T A intron_variant BRCA-EU 2 162170755 162170763 multiple base substitution (>=2bp and <=200bp) GACACATCT GAAGT intron_variant BRCA-EU 2 162170837 162170837 single base substitution C A intron_variant BRCA-EU 2 162171845 162171845 single base substitution C T intron_variant BRCA-EU 2 162174482 162174482 single base substitution T G intron_variant BRCA-EU 2 162175708 162175708 single base substitution C G downstream_gene_variant BRCA-EU 2 162175708 162175708 single base substitution C G intron_variant BRCA-EU 2 162177158 162177158 single base substitution C G downstream_gene_variant BRCA-EU 2 162177158 162177158 single base substitution C G intron_variant BRCA-EU 2 162177246 162177246 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 162177246 162177246 deletion of <=200bp T - intron_variant BRCA-EU 2 162177943 162177943 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 162177943 162177943 deletion of <=200bp T - intron_variant BRCA-EU 2 162178158 162178158 single base substitution T A downstream_gene_variant BRCA-EU 2 162178158 162178158 single base substitution T A intron_variant BRCA-EU 2 162178164 162178164 single base substitution G A downstream_gene_variant BRCA-EU 2 162178164 162178164 single base substitution G A intron_variant BRCA-EU 2 162178694 162178694 single base substitution C T downstream_gene_variant BRCA-EU 2 162178694 162178694 single base substitution C T intron_variant BRCA-EU 2 162179827 162179827 single base substitution G A downstream_gene_variant BRCA-EU 2 162179827 162179827 single base substitution G A intron_variant BRCA-EU 2 162182367 162182367 single base substitution G T intron_variant BRCA-EU 2 162182495 162182495 deletion of <=200bp A - intron_variant BRCA-EU 2 162182793 162182793 single base substitution C T intron_variant BRCA-EU 2 162183044 162183044 single base substitution C G intron_variant BRCA-EU 2 162183724 162183724 single base substitution G A intron_variant BRCA-EU 2 162183997 162183997 single base substitution A C intron_variant BRCA-EU 2 162184247 162184247 single base substitution A C intron_variant BRCA-EU 2 162184396 162184396 deletion of <=200bp C - intron_variant BRCA-EU 2 162184407 162184407 single base substitution G A intron_variant BRCA-EU 2 162184561 162184561 single base substitution A C intron_variant BRCA-EU 2 162184604 162184604 single base substitution A C intron_variant BRCA-EU 2 162185117 162185117 single base substitution G T intron_variant BRCA-EU 2 162185559 162185559 single base substitution G A intron_variant BRCA-EU 2 162186437 162186437 single base substitution C G intron_variant BRCA-EU 2 162186626 162186626 single base substitution C G intron_variant BRCA-EU 2 162189305 162189305 single base substitution T C intron_variant BRCA-EU 2 162189910 162189910 single base substitution C T intron_variant BRCA-EU 2 162189966 162189966 single base substitution G A intron_variant BRCA-EU 2 162190556 162190556 single base substitution C A intron_variant BRCA-EU 2 162192812 162192812 single base substitution A T intron_variant BRCA-EU 2 162193538 162193538 single base substitution C G intron_variant BRCA-EU 2 162193694 162193694 single base substitution G C intron_variant BRCA-EU 2 162193782 162193782 single base substitution C T intron_variant BRCA-EU 2 162194165 162194192 deletion of <=200bp AGTTTATGGTGACGGTCCCATGGCTGCC - intron_variant BRCA-EU 2 162194178 162194178 single base substitution G A intron_variant BRCA-EU 2 162194675 162194675 single base substitution C T intron_variant BRCA-EU 2 162195657 162195657 single base substitution G T intron_variant BRCA-EU 2 162196291 162196291 single base substitution C T intron_variant BRCA-EU 2 162197967 162197967 single base substitution G A intron_variant BRCA-EU 2 162198264 162198264 single base substitution C T intron_variant BRCA-EU 2 162199793 162199793 single base substitution C T intron_variant BRCA-EU 2 162200785 162200785 single base substitution T C intron_variant BRCA-EU 2 162200965 162200965 single base substitution C A intron_variant BRCA-EU 2 162203369 162203369 single base substitution G C intron_variant BRCA-EU 2 162204966 162204966 single base substitution A T intron_variant BRCA-EU 2 162206502 162206502 single base substitution C T intron_variant BRCA-EU 2 162207312 162207312 single base substitution C A intron_variant BRCA-EU 2 162207450 162207450 single base substitution C A intron_variant BRCA-EU 2 162207471 162207471 single base substitution C T intron_variant BRCA-EU 2 162207599 162207599 single base substitution C A intron_variant BRCA-EU 2 162208768 162208768 single base substitution T C intron_variant BRCA-EU 2 162208906 162208906 single base substitution C T intron_variant BRCA-EU 2 162209083 162209083 single base substitution C G intron_variant BRCA-EU 2 162209457 162209457 single base substitution C T intron_variant BRCA-EU 2 162210022 162210022 single base substitution C G intron_variant BRCA-EU 2 162210952 162210952 single base substitution C T intron_variant BRCA-EU 2 162211424 162211424 single base substitution C G intron_variant BRCA-EU 2 162212824 162212824 single base substitution T C intron_variant BRCA-EU 2 162213769 162213769 single base substitution C T intron_variant BRCA-EU 2 162213961 162213961 single base substitution T C intron_variant BRCA-EU 2 162213995 162213995 single base substitution C T intron_variant BRCA-EU 2 162214540 162214540 deletion of <=200bp T - intron_variant BRCA-EU 2 162214695 162214695 single base substitution A G intron_variant BRCA-EU 2 162214800 162214800 single base substitution C T intron_variant BRCA-EU 2 162215320 162215320 single base substitution C T intron_variant BRCA-EU 2 162215326 162215326 single base substitution C T intron_variant BRCA-EU 2 162217344 162217344 single base substitution G A intron_variant BRCA-EU 2 162218436 162218436 single base substitution T G intron_variant BRCA-EU 2 162218967 162218967 single base substitution G A intron_variant BRCA-EU 2 162218992 162218992 single base substitution T C intron_variant BRCA-EU 2 162219380 162219380 single base substitution G A intron_variant BRCA-EU 2 162219599 162219599 single base substitution C T intron_variant BRCA-EU 2 162222039 162222039 deletion of <=200bp A - intron_variant BRCA-EU 2 162222217 162222217 insertion of <=200bp - G intron_variant BRCA-EU 2 162226666 162226666 single base substitution G C downstream_gene_variant BRCA-EU 2 162226666 162226666 single base substitution G C missense_variant D97H 289G>C BRCA-EU 2 162229142 162229142 single base substitution T C downstream_gene_variant BRCA-EU 2 162229142 162229142 single base substitution T C intron_variant BRCA-EU 2 162230104 162230104 single base substitution C A downstream_gene_variant BRCA-EU 2 162230104 162230104 single base substitution C A intron_variant BRCA-EU 2 162230120 162230120 single base substitution G A downstream_gene_variant BRCA-EU 2 162230120 162230120 single base substitution G A intron_variant BRCA-EU 2 162230167 162230167 single base substitution A G downstream_gene_variant BRCA-EU 2 162230167 162230167 single base substitution A G intron_variant BRCA-EU 2 162230510 162230510 single base substitution T A downstream_gene_variant BRCA-EU 2 162230510 162230510 single base substitution T A intron_variant BRCA-EU 2 162230616 162230616 single base substitution C T downstream_gene_variant BRCA-EU 2 162230616 162230616 single base substitution C T intron_variant BRCA-EU 2 162231002 162231002 single base substitution A T downstream_gene_variant BRCA-EU 2 162231002 162231002 single base substitution A T intron_variant BRCA-EU 2 162232129 162232129 single base substitution C G intron_variant BRCA-EU 2 162232130 162232130 deletion of <=200bp T - intron_variant BRCA-EU 2 162232229 162232229 single base substitution A G intron_variant BRCA-EU 2 162232446 162232446 single base substitution A T intron_variant BRCA-EU 2 162232795 162232795 single base substitution A G intron_variant BRCA-EU 2 162233376 162233376 single base substitution G C intron_variant BRCA-EU 2 162233376 162233376 single base substitution G C upstream_gene_variant BRCA-EU 2 162235421 162235421 single base substitution C T intron_variant BRCA-EU 2 162235421 162235421 single base substitution C T upstream_gene_variant BRCA-EU 2 162237109 162237109 single base substitution A C intron_variant BRCA-EU 2 162237109 162237109 single base substitution A C upstream_gene_variant BRCA-EU 2 162239221 162239221 single base substitution C T exon_variant BRCA-EU 2 162239221 162239221 single base substitution C T intron_variant BRCA-EU 2 162240303 162240303 single base substitution C G exon_variant BRCA-EU 2 162240303 162240303 single base substitution C G intron_variant BRCA-EU 2 162241941 162241941 single base substitution A T exon_variant BRCA-EU 2 162241941 162241941 single base substitution A T intron_variant BRCA-EU 2 162242113 162242113 single base substitution C G intron_variant BRCA-EU 2 162244251 162244251 deletion of <=200bp T - intron_variant BRCA-EU 2 162246000 162246000 single base substitution T A intron_variant BRCA-EU 2 162246061 162246061 single base substitution A C intron_variant BRCA-EU 2 162249072 162249072 insertion of <=200bp - T intron_variant BRCA-EU 2 162249108 162249108 single base substitution C A intron_variant BRCA-EU 2 162249459 162249459 single base substitution G A intron_variant BRCA-EU 2 162249853 162249853 single base substitution G A intron_variant BRCA-EU 2 162251057 162251057 single base substitution C G intron_variant BRCA-EU 2 162251101 162251101 single base substitution C G intron_variant BRCA-EU 2 162253560 162253560 single base substitution C T intron_variant BRCA-EU 2 162253582 162253582 single base substitution C T intron_variant BRCA-EU 2 162255050 162255050 deletion of <=200bp T - intron_variant BRCA-EU 2 162255160 162255160 deletion of <=200bp T - intron_variant BRCA-EU 2 162256024 162256024 single base substitution T C intron_variant BRCA-EU 2 162256298 162256298 insertion of <=200bp - T intron_variant BRCA-EU 2 162256560 162256560 single base substitution C G intron_variant BRCA-EU 2 162256805 162256805 single base substitution C T intron_variant BRCA-EU 2 162257181 162257181 single base substitution C T intron_variant BRCA-EU 2 162257796 162257796 single base substitution C T intron_variant BRCA-EU 2 162259547 162259547 single base substitution C T intron_variant BRCA-EU 2 162259547 162259547 single base substitution C T upstream_gene_variant BRCA-EU 2 162260217 162260217 single base substitution C T intron_variant BRCA-EU 2 162260217 162260217 single base substitution C T upstream_gene_variant BRCA-EU 2 162260611 162260611 single base substitution C G intron_variant BRCA-EU 2 162260611 162260611 single base substitution C G upstream_gene_variant BRCA-EU 2 162261045 162261045 single base substitution T G intron_variant BRCA-EU 2 162261045 162261045 single base substitution T G upstream_gene_variant BRCA-EU 2 162262283 162262283 single base substitution A C intron_variant BRCA-EU 2 162262283 162262283 single base substitution A C upstream_gene_variant BRCA-EU 2 162262356 162262356 single base substitution A G intron_variant BRCA-EU 2 162262356 162262356 single base substitution A G upstream_gene_variant BRCA-EU 2 162264350 162264350 deletion of <=200bp T - exon_variant BRCA-EU 2 162264350 162264350 deletion of <=200bp T - intron_variant BRCA-EU 2 162264350 162264350 insertion of <=200bp - T exon_variant BRCA-EU 2 162264350 162264350 insertion of <=200bp - T intron_variant BRCA-EU 2 162264701 162264701 single base substitution A G exon_variant BRCA-EU 2 162264701 162264701 single base substitution A G intron_variant BRCA-EU 2 162265130 162265130 single base substitution C G exon_variant BRCA-EU 2 162265130 162265130 single base substitution C G intron_variant BRCA-EU 2 162266695 162266695 single base substitution C G intron_variant BRCA-EU 2 162266696 162266696 deletion of <=200bp T - intron_variant BRCA-EU 2 162266825 162266825 deletion of <=200bp A - intron_variant BRCA-EU 2 162267098 162267098 single base substitution C T intron_variant BRCA-EU 2 162268783 162268783 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 162270729 162270729 single base substitution C A downstream_gene_variant BRCA-EU 2 162271280 162271280 single base substitution G A downstream_gene_variant BRCA-EU 2 162271660 162271660 single base substitution A C downstream_gene_variant BRCA-EU 2 162271900 162271900 single base substitution C G downstream_gene_variant BRCA-EU 2 162272299 162272299 single base substitution C T downstream_gene_variant BRCA-EU 2 162272435 162272435 single base substitution G A downstream_gene_variant BRCA-FR 2 162162729 162162729 single base substitution C G upstream_gene_variant BRCA-FR 2 162165361 162165361 single base substitution C T intron_variant BRCA-FR 2 162171845 162171845 single base substitution C T intron_variant BRCA-FR 2 162173540 162173540 single base substitution G T intron_variant BRCA-FR 2 162193538 162193538 single base substitution C G intron_variant BRCA-FR 2 162197804 162197804 single base substitution G A intron_variant BRCA-FR 2 162197817 162197817 single base substitution C G intron_variant BRCA-FR 2 162200785 162200785 single base substitution T C intron_variant BRCA-FR 2 162206502 162206502 single base substitution C T intron_variant BRCA-FR 2 162215320 162215320 single base substitution C T intron_variant BRCA-FR 2 162232795 162232795 single base substitution A G intron_variant BRCA-FR 2 162234688 162234688 single base substitution C T intron_variant BRCA-FR 2 162234688 162234688 single base substitution C T upstream_gene_variant BRCA-FR 2 162251057 162251057 single base substitution C G intron_variant BRCA-FR 2 162255850 162255850 single base substitution G C intron_variant BRCA-FR 2 162259547 162259547 single base substitution C T intron_variant BRCA-FR 2 162259547 162259547 single base substitution C T upstream_gene_variant BRCA-FR 2 162261045 162261045 single base substitution T G intron_variant BRCA-FR 2 162261045 162261045 single base substitution T G upstream_gene_variant BRCA-FR 2 162266695 162266695 single base substitution C G intron_variant BRCA-FR 2 162272435 162272435 single base substitution G A downstream_gene_variant BRCA-UK 2 162160583 162160583 single base substitution G A upstream_gene_variant BRCA-UK 2 162184247 162184247 single base substitution A C intron_variant BRCA-UK 2 162212824 162212824 single base substitution T C intron_variant BRCA-UK 2 162249108 162249108 single base substitution C A intron_variant BRCA-UK 2 162256886 162256886 single base substitution C A intron_variant BRCA-US 2 162175351 162175351 single base substitution T G exon_variant BRCA-US 2 162175351 162175351 single base substitution T G synonymous_variant L5L 15T>G BRCA-US 2 162224044 162224044 single base substitution C T missense_variant S35F 104C>T BRCA-US 2 162273179 162273179 insertion of <=200bp - T downstream_gene_variant BRCA-US 2 162273201 162273201 single base substitution C T downstream_gene_variant BTCA-JP 2 162241941 162241941 single base substitution A T exon_variant BTCA-JP 2 162241941 162241941 single base substitution A T intron_variant BTCA-JP 2 162267761 162267761 single base substitution A T intron_variant BTCA-JP 2 162272938 162272938 deletion of <=200bp G - downstream_gene_variant CLLE-ES 2 162168484 162168484 single base substitution T C intron_variant CLLE-ES 2 162173759 162173759 single base substitution A C intron_variant CLLE-ES 2 162257716 162257716 single base substitution A G intron_variant COAD-US 2 162242048 162242048 single base substitution C T exon_variant COAD-US 2 162242048 162242048 single base substitution C T missense_variant S179L 536C>T COAD-US 2 162267813 162267813 single base substitution G A missense_variant D279N 835G>A COAD-US 2 162267813 162267813 single base substitution G A splice_region_variant COCA-CN 2 162223881 162223881 single base substitution T G intron_variant COCA-CN 2 162224279 162224279 single base substitution C A intron_variant COCA-CN 2 162224314 162224314 single base substitution C G missense_variant A47G 140C>G COCA-CN 2 162227852 162227852 single base substitution T G downstream_gene_variant COCA-CN 2 162227852 162227852 single base substitution T G intron_variant COCA-CN 2 162227899 162227899 single base substitution A C downstream_gene_variant COCA-CN 2 162227899 162227899 single base substitution A C intron_variant COCA-CN 2 162242049 162242049 single base substitution G A exon_variant COCA-CN 2 162242049 162242049 single base substitution G A synonymous_variant S179S 537G>A COCA-CN 2 162265251 162265251 single base substitution A G exon_variant COCA-CN 2 162265251 162265251 single base substitution A G intron_variant COCA-CN 2 162265424 162265424 single base substitution T C intron_variant COCA-CN 2 162267925 162267925 single base substitution G A 3_prime_UTR_variant COCA-CN 2 162267925 162267925 single base substitution G A exon_variant COCA-CN 2 162272780 162272780 single base substitution A C downstream_gene_variant COCA-CN 2 162272913 162272913 single base substitution T G downstream_gene_variant COCA-CN 2 162273151 162273151 single base substitution A G downstream_gene_variant EOPC-DE 2 162169805 162169805 single base substitution A G intron_variant EOPC-DE 2 162183642 162183642 single base substitution T C intron_variant EOPC-DE 2 162242345 162242345 single base substitution A T intron_variant ESAD-UK 2 162160229 162160229 single base substitution T C upstream_gene_variant ESAD-UK 2 162161233 162161233 single base substitution T C upstream_gene_variant ESAD-UK 2 162161285 162161285 single base substitution T C upstream_gene_variant ESAD-UK 2 162163499 162163499 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 162166227 162166227 single base substitution G A intron_variant ESAD-UK 2 162168450 162168450 single base substitution G A intron_variant ESAD-UK 2 162172101 162172101 deletion of <=200bp T - intron_variant ESAD-UK 2 162175669 162175669 single base substitution A C downstream_gene_variant ESAD-UK 2 162175669 162175669 single base substitution A C intron_variant ESAD-UK 2 162176280 162176280 single base substitution T G downstream_gene_variant ESAD-UK 2 162176280 162176280 single base substitution T G intron_variant ESAD-UK 2 162176863 162176863 single base substitution A G downstream_gene_variant ESAD-UK 2 162176863 162176863 single base substitution A G intron_variant ESAD-UK 2 162178694 162178694 single base substitution C T downstream_gene_variant ESAD-UK 2 162178694 162178694 single base substitution C T intron_variant ESAD-UK 2 162180479 162180479 single base substitution C T downstream_gene_variant ESAD-UK 2 162180479 162180479 single base substitution C T intron_variant ESAD-UK 2 162180718 162180718 single base substitution C T intron_variant ESAD-UK 2 162181813 162181813 single base substitution C T intron_variant ESAD-UK 2 162182793 162182793 single base substitution C T intron_variant ESAD-UK 2 162184509 162184509 single base substitution G C intron_variant ESAD-UK 2 162184766 162184766 single base substitution A G intron_variant ESAD-UK 2 162186402 162186402 single base substitution T C intron_variant ESAD-UK 2 162186944 162186944 single base substitution C T intron_variant ESAD-UK 2 162187230 162187230 single base substitution C T intron_variant ESAD-UK 2 162192079 162192079 single base substitution G T intron_variant ESAD-UK 2 162192312 162192312 single base substitution C T intron_variant ESAD-UK 2 162193177 162193177 single base substitution C G intron_variant ESAD-UK 2 162193664 162193667 deletion of <=200bp TTTG - intron_variant ESAD-UK 2 162195036 162195036 single base substitution C G intron_variant ESAD-UK 2 162195491 162195491 deletion of <=200bp T - intron_variant ESAD-UK 2 162203018 162203018 insertion of <=200bp - T intron_variant ESAD-UK 2 162205336 162205336 single base substitution G A intron_variant ESAD-UK 2 162210483 162210483 single base substitution T A intron_variant ESAD-UK 2 162212048 162212051 deletion of <=200bp TTTC - intron_variant ESAD-UK 2 162212173 162212173 single base substitution T C intron_variant ESAD-UK 2 162212559 162212559 single base substitution T G intron_variant ESAD-UK 2 162215233 162215233 single base substitution A T intron_variant ESAD-UK 2 162215657 162215657 single base substitution A C intron_variant ESAD-UK 2 162216868 162216868 single base substitution T G intron_variant ESAD-UK 2 162219623 162219623 single base substitution T C intron_variant ESAD-UK 2 162223588 162223588 single base substitution A T intron_variant ESAD-UK 2 162225249 162225251 deletion of <=200bp TTG - intron_variant ESAD-UK 2 162227965 162227965 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 162227965 162227965 insertion of <=200bp - A intron_variant ESAD-UK 2 162235487 162235487 single base substitution A G intron_variant ESAD-UK 2 162235487 162235487 single base substitution A G upstream_gene_variant ESAD-UK 2 162236082 162236082 single base substitution A G intron_variant ESAD-UK 2 162236082 162236082 single base substitution A G upstream_gene_variant ESAD-UK 2 162237995 162237995 insertion of <=200bp - T exon_variant ESAD-UK 2 162237995 162237995 insertion of <=200bp - T intron_variant ESAD-UK 2 162238433 162238433 single base substitution G A exon_variant ESAD-UK 2 162238433 162238433 single base substitution G A intron_variant ESAD-UK 2 162240283 162240283 single base substitution T G exon_variant ESAD-UK 2 162240283 162240283 single base substitution T G intron_variant ESAD-UK 2 162241941 162241941 single base substitution A T exon_variant ESAD-UK 2 162241941 162241941 single base substitution A T intron_variant ESAD-UK 2 162247742 162247742 single base substitution T G intron_variant ESAD-UK 2 162250213 162250213 insertion of <=200bp - T intron_variant ESAD-UK 2 162250722 162250722 single base substitution A T intron_variant ESAD-UK 2 162250847 162250847 single base substitution T G intron_variant ESAD-UK 2 162250884 162250884 single base substitution G C intron_variant ESAD-UK 2 162253232 162253232 single base substitution G C intron_variant ESAD-UK 2 162253402 162253402 single base substitution G A intron_variant ESAD-UK 2 162257381 162257381 single base substitution A C intron_variant ESAD-UK 2 162257467 162257467 insertion of <=200bp - AA intron_variant ESAD-UK 2 162259019 162259019 single base substitution G A intron_variant ESAD-UK 2 162259716 162259716 single base substitution T C intron_variant ESAD-UK 2 162259716 162259716 single base substitution T C upstream_gene_variant ESAD-UK 2 162263485 162263485 single base substitution C T intron_variant ESAD-UK 2 162263485 162263485 single base substitution C T upstream_gene_variant ESAD-UK 2 162263727 162263727 single base substitution G C intron_variant ESAD-UK 2 162263727 162263727 single base substitution G C upstream_gene_variant ESAD-UK 2 162264459 162264459 single base substitution C T exon_variant ESAD-UK 2 162264459 162264459 single base substitution C T intron_variant ESAD-UK 2 162265496 162265496 single base substitution T A intron_variant ESAD-UK 2 162265691 162265691 single base substitution T G intron_variant ESAD-UK 2 162266825 162266825 single base substitution A T intron_variant ESAD-UK 2 162267819 162267819 single base substitution A G exon_variant ESAD-UK 2 162267819 162267819 single base substitution A G missense_variant K281E 841A>G ESAD-UK 2 162269434 162269434 single base substitution G T downstream_gene_variant ESAD-UK 2 162270540 162270540 single base substitution A G downstream_gene_variant ESAD-UK 2 162271405 162271405 single base substitution C T downstream_gene_variant ESAD-UK 2 162273030 162273030 single base substitution C T downstream_gene_variant ESCA-CN 2 162251513 162251513 single base substitution G T intron_variant ESCA-CN 2 162265189 162265189 single base substitution G T exon_variant ESCA-CN 2 162265189 162265189 single base substitution G T intron_variant ESCA-CN 2 162265308 162265308 single base substitution T G exon_variant ESCA-CN 2 162265308 162265308 single base substitution T G intron_variant KIRP-US 2 162227815 162227815 single base substitution T C downstream_gene_variant KIRP-US 2 162227815 162227815 single base substitution T C synonymous_variant I148I 444T>C LAML-KR 2 162237174 162237174 single base substitution G A intron_variant LAML-KR 2 162237174 162237174 single base substitution G A upstream_gene_variant LAML-KR 2 162246403 162246403 single base substitution T G intron_variant LAML-KR 2 162250505 162250505 single base substitution G T intron_variant LAML-KR 2 162251513 162251513 single base substitution G T intron_variant LICA-CN 2 162241973 162241973 single base substitution A C exon_variant LICA-CN 2 162241973 162241973 single base substitution A C splice_acceptor_variant LICA-FR 2 162174300 162174300 single base substitution C G intron_variant LICA-FR 2 162228955 162228955 single base substitution T C downstream_gene_variant LICA-FR 2 162228955 162228955 single base substitution T C intron_variant LIHC-US 2 162227718 162227718 single base substitution C G downstream_gene_variant LIHC-US 2 162227718 162227718 single base substitution C G missense_variant P116R 347C>G LIHC-US 2 162273138 162273138 single base substitution G A downstream_gene_variant LINC-JP 2 162162103 162162103 single base substitution C G upstream_gene_variant LINC-JP 2 162164070 162164070 single base substitution G A upstream_gene_variant LINC-JP 2 162165497 162165497 single base substitution A G intron_variant LINC-JP 2 162183988 162183988 single base substitution T A intron_variant LINC-JP 2 162192643 162192643 single base substitution T A intron_variant LINC-JP 2 162198656 162198656 single base substitution C G intron_variant LINC-JP 2 162213600 162213600 single base substitution A T intron_variant LINC-JP 2 162213601 162213601 single base substitution G T intron_variant LINC-JP 2 162233789 162233789 single base substitution G A intron_variant LINC-JP 2 162233789 162233789 single base substitution G A upstream_gene_variant LINC-JP 2 162235677 162235677 single base substitution C T intron_variant LINC-JP 2 162235677 162235677 single base substitution C T upstream_gene_variant LINC-JP 2 162235840 162235840 single base substitution T G intron_variant LINC-JP 2 162235840 162235840 single base substitution T G upstream_gene_variant LINC-JP 2 162251681 162251681 single base substitution A G exon_variant LINC-JP 2 162251681 162251681 single base substitution A G synonymous_variant K246K 738A>G LINC-JP 2 162262108 162262108 single base substitution A G intron_variant LINC-JP 2 162262108 162262108 single base substitution A G upstream_gene_variant LINC-JP 2 162266563 162266563 single base substitution A G intron_variant LINC-JP 2 162268533 162268533 single base substitution G T downstream_gene_variant LIRI-JP 2 162164810 162164810 single base substitution G C 5_prime_UTR_variant LIRI-JP 2 162164810 162164810 single base substitution G C upstream_gene_variant LIRI-JP 2 162165765 162165765 insertion of <=200bp - TTAAT intron_variant LIRI-JP 2 162166124 162166137 deletion of <=200bp AGCTGACTCATTTG - intron_variant LIRI-JP 2 162168077 162168077 single base substitution G A intron_variant LIRI-JP 2 162169018 162169019 deletion of <=200bp AT - intron_variant LIRI-JP 2 162170219 162170219 single base substitution A G intron_variant LIRI-JP 2 162171537 162171537 single base substitution A T intron_variant LIRI-JP 2 162175730 162175730 single base substitution A C downstream_gene_variant LIRI-JP 2 162175730 162175730 single base substitution A C intron_variant LIRI-JP 2 162177258 162177258 single base substitution A G downstream_gene_variant LIRI-JP 2 162177258 162177258 single base substitution A G intron_variant LIRI-JP 2 162178369 162178369 single base substitution G T downstream_gene_variant LIRI-JP 2 162178369 162178369 single base substitution G T intron_variant LIRI-JP 2 162183192 162183192 single base substitution A G intron_variant LIRI-JP 2 162183539 162183539 single base substitution A G intron_variant LIRI-JP 2 162185585 162185585 single base substitution A G intron_variant LIRI-JP 2 162186248 162186248 single base substitution T G intron_variant LIRI-JP 2 162192196 162192196 single base substitution C G intron_variant LIRI-JP 2 162192544 162192544 single base substitution T C intron_variant LIRI-JP 2 162195531 162195531 single base substitution C A intron_variant LIRI-JP 2 162200237 162200237 single base substitution C T intron_variant LIRI-JP 2 162201041 162201041 single base substitution A G intron_variant LIRI-JP 2 162202599 162202599 single base substitution G T intron_variant LIRI-JP 2 162203243 162203243 single base substitution T G intron_variant LIRI-JP 2 162205120 162205120 single base substitution A G intron_variant LIRI-JP 2 162206385 162206385 single base substitution G A intron_variant LIRI-JP 2 162206990 162206990 single base substitution G A intron_variant LIRI-JP 2 162208901 162208901 single base substitution A G intron_variant LIRI-JP 2 162210111 162210111 single base substitution C G intron_variant LIRI-JP 2 162210274 162210274 single base substitution T G intron_variant LIRI-JP 2 162210337 162210337 single base substitution A G intron_variant LIRI-JP 2 162210428 162210428 single base substitution A C intron_variant LIRI-JP 2 162212016 162212016 single base substitution A G intron_variant LIRI-JP 2 162212733 162212733 single base substitution G T intron_variant LIRI-JP 2 162212748 162212748 single base substitution A C intron_variant LIRI-JP 2 162212849 162212849 single base substitution A G intron_variant LIRI-JP 2 162213498 162213498 single base substitution A G intron_variant LIRI-JP 2 162217564 162217564 single base substitution A G intron_variant LIRI-JP 2 162217752 162217752 single base substitution A G intron_variant LIRI-JP 2 162217828 162217828 single base substitution G C intron_variant LIRI-JP 2 162218069 162218069 single base substitution A G intron_variant LIRI-JP 2 162218408 162218408 single base substitution G A intron_variant LIRI-JP 2 162218859 162218860 deletion of <=200bp TA - intron_variant LIRI-JP 2 162219358 162219358 single base substitution C T intron_variant LIRI-JP 2 162219450 162219450 single base substitution A G intron_variant LIRI-JP 2 162219815 162219817 deletion of <=200bp TAA - intron_variant LIRI-JP 2 162219893 162219893 single base substitution A G intron_variant LIRI-JP 2 162220127 162220127 single base substitution G T intron_variant LIRI-JP 2 162223331 162223331 single base substitution A G intron_variant LIRI-JP 2 162224634 162224634 single base substitution A G intron_variant LIRI-JP 2 162225407 162225407 single base substitution A G intron_variant LIRI-JP 2 162227087 162227087 single base substitution A G downstream_gene_variant LIRI-JP 2 162227087 162227087 single base substitution A G intron_variant LIRI-JP 2 162229184 162229184 single base substitution A G downstream_gene_variant LIRI-JP 2 162229184 162229184 single base substitution A G intron_variant LIRI-JP 2 162230125 162230125 single base substitution A G downstream_gene_variant LIRI-JP 2 162230125 162230125 single base substitution A G intron_variant LIRI-JP 2 162230345 162230345 single base substitution A G downstream_gene_variant LIRI-JP 2 162230345 162230345 single base substitution A G intron_variant LIRI-JP 2 162230612 162230612 single base substitution A G downstream_gene_variant LIRI-JP 2 162230612 162230612 single base substitution A G intron_variant LIRI-JP 2 162232416 162232416 single base substitution A G intron_variant LIRI-JP 2 162234231 162234231 single base substitution C A intron_variant LIRI-JP 2 162234231 162234231 single base substitution C A upstream_gene_variant LIRI-JP 2 162236733 162236733 single base substitution A G intron_variant LIRI-JP 2 162236733 162236733 single base substitution A G upstream_gene_variant LIRI-JP 2 162236909 162236909 deletion of <=200bp T - intron_variant LIRI-JP 2 162236909 162236909 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 162238033 162238033 single base substitution A G exon_variant LIRI-JP 2 162238033 162238033 single base substitution A G intron_variant LIRI-JP 2 162240441 162240441 single base substitution A G exon_variant LIRI-JP 2 162240441 162240441 single base substitution A G intron_variant LIRI-JP 2 162242226 162242226 single base substitution C G intron_variant LIRI-JP 2 162242364 162242364 single base substitution A G intron_variant LIRI-JP 2 162242410 162242410 single base substitution C A intron_variant LIRI-JP 2 162242880 162242880 single base substitution T A intron_variant LIRI-JP 2 162242923 162242923 single base substitution G A intron_variant LIRI-JP 2 162242956 162242956 single base substitution T G intron_variant LIRI-JP 2 162243622 162243622 single base substitution A G intron_variant LIRI-JP 2 162244213 162244213 single base substitution A G intron_variant LIRI-JP 2 162245014 162245014 single base substitution G A intron_variant LIRI-JP 2 162245783 162245783 single base substitution C T intron_variant LIRI-JP 2 162245892 162245892 single base substitution T C intron_variant LIRI-JP 2 162248014 162248014 single base substitution G T intron_variant LIRI-JP 2 162252182 162252182 single base substitution A G intron_variant LIRI-JP 2 162252558 162252558 single base substitution C T intron_variant LIRI-JP 2 162253666 162253666 single base substitution T C intron_variant LIRI-JP 2 162256458 162256458 single base substitution A G intron_variant LIRI-JP 2 162258644 162258644 single base substitution C T intron_variant LIRI-JP 2 162259505 162259505 single base substitution A T intron_variant LIRI-JP 2 162259505 162259505 single base substitution A T upstream_gene_variant LIRI-JP 2 162261466 162261466 single base substitution C G intron_variant LIRI-JP 2 162261466 162261466 single base substitution C G upstream_gene_variant LIRI-JP 2 162261582 162261582 single base substitution A G intron_variant LIRI-JP 2 162261582 162261582 single base substitution A G upstream_gene_variant LIRI-JP 2 162262069 162262069 single base substitution A G intron_variant LIRI-JP 2 162262069 162262069 single base substitution A G upstream_gene_variant LIRI-JP 2 162262269 162262269 single base substitution C T intron_variant LIRI-JP 2 162262269 162262269 single base substitution C T upstream_gene_variant LIRI-JP 2 162263770 162263770 single base substitution A G intron_variant LIRI-JP 2 162263770 162263770 single base substitution A G upstream_gene_variant LIRI-JP 2 162265944 162265944 single base substitution A T intron_variant LIRI-JP 2 162267770 162267770 single base substitution T C intron_variant LIRI-JP 2 162271564 162271564 single base substitution C A downstream_gene_variant LIRI-JP 2 162272359 162272359 single base substitution T G downstream_gene_variant LIRI-JP 2 162272597 162272597 single base substitution C A downstream_gene_variant LUSC-KR 2 162160600 162160600 single base substitution C G upstream_gene_variant LUSC-KR 2 162160774 162160774 single base substitution C T upstream_gene_variant LUSC-KR 2 162174594 162174594 single base substitution A T intron_variant LUSC-KR 2 162182780 162182780 single base substitution G A intron_variant LUSC-KR 2 162187163 162187163 single base substitution G T intron_variant LUSC-KR 2 162196291 162196291 single base substitution C T intron_variant LUSC-KR 2 162198380 162198380 single base substitution A T intron_variant LUSC-KR 2 162201271 162201271 single base substitution A T intron_variant LUSC-KR 2 162202528 162202528 single base substitution G T intron_variant LUSC-KR 2 162208252 162208252 single base substitution C T intron_variant LUSC-KR 2 162215292 162215292 single base substitution A C intron_variant LUSC-KR 2 162219274 162219274 single base substitution C T intron_variant LUSC-KR 2 162224099 162224099 single base substitution G T intron_variant LUSC-KR 2 162224495 162224495 single base substitution A C intron_variant LUSC-KR 2 162233372 162233372 single base substitution C G intron_variant LUSC-KR 2 162233372 162233372 single base substitution C G upstream_gene_variant LUSC-KR 2 162233405 162233405 single base substitution A G intron_variant LUSC-KR 2 162233405 162233405 single base substitution A G upstream_gene_variant LUSC-KR 2 162234174 162234174 single base substitution C G intron_variant LUSC-KR 2 162234174 162234174 single base substitution C G upstream_gene_variant LUSC-KR 2 162235809 162235809 single base substitution G T intron_variant LUSC-KR 2 162235809 162235809 single base substitution G T upstream_gene_variant LUSC-KR 2 162241846 162241846 single base substitution T C exon_variant LUSC-KR 2 162241846 162241846 single base substitution T C intron_variant LUSC-KR 2 162242001 162242001 single base substitution C G exon_variant LUSC-KR 2 162242001 162242001 single base substitution C G missense_variant I163M 489C>G LUSC-KR 2 162242323 162242323 single base substitution G T intron_variant LUSC-KR 2 162246406 162246406 single base substitution T G intron_variant LUSC-KR 2 162250505 162250505 single base substitution G T intron_variant LUSC-KR 2 162250695 162250695 single base substitution C T intron_variant LUSC-KR 2 162253134 162253134 single base substitution G T intron_variant LUSC-KR 2 162255796 162255796 single base substitution T A intron_variant LUSC-KR 2 162255797 162255797 single base substitution G C intron_variant LUSC-KR 2 162257390 162257390 single base substitution G T intron_variant LUSC-KR 2 162263441 162263441 single base substitution C A intron_variant LUSC-KR 2 162263441 162263441 single base substitution C A upstream_gene_variant LUSC-KR 2 162263550 162263550 single base substitution G T intron_variant LUSC-KR 2 162263550 162263550 single base substitution G T upstream_gene_variant LUSC-KR 2 162263719 162263719 single base substitution C G intron_variant LUSC-KR 2 162263719 162263719 single base substitution C G upstream_gene_variant LUSC-KR 2 162263889 162263889 single base substitution C T intron_variant LUSC-KR 2 162263889 162263889 single base substitution C T upstream_gene_variant LUSC-KR 2 162265270 162265270 single base substitution A G exon_variant LUSC-KR 2 162265270 162265270 single base substitution A G intron_variant LUSC-KR 2 162269495 162269495 single base substitution G T downstream_gene_variant LUSC-KR 2 162272334 162272334 single base substitution T A downstream_gene_variant LUSC-US 2 162175349 162175349 single base substitution C G exon_variant LUSC-US 2 162175349 162175349 single base substitution C G missense_variant L5V 13C>G LUSC-US 2 162224035 162224035 single base substitution A G missense_variant Y32C 95A>G LUSC-US 2 162242083 162242083 single base substitution G C splice_donor_variant MALY-DE 2 162165049 162165049 single base substitution T G 5_prime_UTR_variant MALY-DE 2 162165049 162165049 single base substitution T G exon_variant MALY-DE 2 162165049 162165049 single base substitution T G upstream_gene_variant MALY-DE 2 162184940 162184940 single base substitution A T intron_variant MALY-DE 2 162185688 162185688 single base substitution A G intron_variant MALY-DE 2 162187065 162187065 single base substitution G T intron_variant MALY-DE 2 162188287 162188287 single base substitution G T intron_variant MALY-DE 2 162190873 162190873 single base substitution T A intron_variant MALY-DE 2 162201539 162201539 single base substitution G C intron_variant MALY-DE 2 162218589 162218589 insertion of <=200bp - T intron_variant MALY-DE 2 162221972 162221973 deletion of <=200bp AT - intron_variant MALY-DE 2 162234018 162234018 single base substitution A C intron_variant MALY-DE 2 162234018 162234018 single base substitution A C upstream_gene_variant MALY-DE 2 162244692 162244692 single base substitution C T intron_variant MALY-DE 2 162245001 162245001 single base substitution A T intron_variant MALY-DE 2 162249072 162249072 insertion of <=200bp - T intron_variant MALY-DE 2 162270647 162270647 single base substitution C T downstream_gene_variant MALY-DE 2 162271580 162271580 single base substitution T G downstream_gene_variant MELA-AU 2 162159708 162159708 single base substitution T C upstream_gene_variant MELA-AU 2 162160136 162160136 single base substitution C T upstream_gene_variant MELA-AU 2 162160334 162160334 single base substitution C T upstream_gene_variant MELA-AU 2 162160347 162160347 single base substitution G A upstream_gene_variant MELA-AU 2 162160589 162160589 single base substitution G A upstream_gene_variant MELA-AU 2 162161173 162161173 single base substitution C T upstream_gene_variant MELA-AU 2 162161750 162161750 single base substitution G A upstream_gene_variant MELA-AU 2 162161754 162161754 single base substitution C T upstream_gene_variant MELA-AU 2 162161863 162161863 single base substitution C T upstream_gene_variant MELA-AU 2 162161961 162161961 single base substitution G A upstream_gene_variant MELA-AU 2 162162162 162162162 single base substitution G A upstream_gene_variant MELA-AU 2 162162918 162162918 single base substitution C T upstream_gene_variant MELA-AU 2 162162929 162162929 single base substitution G A upstream_gene_variant MELA-AU 2 162165495 162165495 single base substitution C T intron_variant MELA-AU 2 162166638 162166638 single base substitution G A intron_variant MELA-AU 2 162166664 162166664 single base substitution A G intron_variant MELA-AU 2 162167951 162167951 single base substitution G A intron_variant MELA-AU 2 162168520 162168520 single base substitution G A intron_variant MELA-AU 2 162169173 162169173 single base substitution C T intron_variant MELA-AU 2 162169212 162169212 single base substitution C T intron_variant MELA-AU 2 162169797 162169797 single base substitution A G intron_variant MELA-AU 2 162170221 162170221 single base substitution C T intron_variant MELA-AU 2 162170675 162170675 single base substitution C T intron_variant MELA-AU 2 162171070 162171070 single base substitution C T intron_variant MELA-AU 2 162171647 162171647 single base substitution C T intron_variant MELA-AU 2 162171647 162171648 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 162171746 162171746 single base substitution C T intron_variant MELA-AU 2 162172897 162172897 single base substitution C T intron_variant MELA-AU 2 162173312 162173312 single base substitution C T intron_variant MELA-AU 2 162173339 162173339 single base substitution T C intron_variant MELA-AU 2 162174447 162174447 single base substitution T G intron_variant MELA-AU 2 162175465 162175465 single base substitution C T exon_variant MELA-AU 2 162175465 162175465 single base substitution C T intron_variant MELA-AU 2 162175467 162175467 single base substitution C T exon_variant MELA-AU 2 162175467 162175467 single base substitution C T intron_variant MELA-AU 2 162175692 162175692 single base substitution G A downstream_gene_variant MELA-AU 2 162175692 162175692 single base substitution G A intron_variant MELA-AU 2 162175946 162175946 single base substitution C T downstream_gene_variant MELA-AU 2 162175946 162175946 single base substitution C T intron_variant MELA-AU 2 162176698 162176698 single base substitution T G downstream_gene_variant MELA-AU 2 162176698 162176698 single base substitution T G intron_variant MELA-AU 2 162177506 162177507 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 2 162177506 162177507 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 2 162177798 162177799 multiple base substitution (>=2bp and <=200bp) CT AC downstream_gene_variant MELA-AU 2 162177798 162177799 multiple base substitution (>=2bp and <=200bp) CT AC intron_variant MELA-AU 2 162177816 162177816 single base substitution C T downstream_gene_variant MELA-AU 2 162177816 162177816 single base substitution C T intron_variant MELA-AU 2 162177956 162177956 single base substitution C T downstream_gene_variant MELA-AU 2 162177956 162177956 single base substitution C T intron_variant MELA-AU 2 162177962 162177962 single base substitution C T downstream_gene_variant MELA-AU 2 162177962 162177962 single base substitution C T intron_variant MELA-AU 2 162178463 162178463 single base substitution T A downstream_gene_variant MELA-AU 2 162178463 162178463 single base substitution T A intron_variant MELA-AU 2 162178674 162178674 single base substitution G A downstream_gene_variant MELA-AU 2 162178674 162178674 single base substitution G A intron_variant MELA-AU 2 162179716 162179716 single base substitution G A downstream_gene_variant MELA-AU 2 162179716 162179716 single base substitution G A intron_variant MELA-AU 2 162179784 162179784 single base substitution C T downstream_gene_variant MELA-AU 2 162179784 162179784 single base substitution C T intron_variant MELA-AU 2 162180572 162180572 single base substitution C T intron_variant MELA-AU 2 162180724 162180724 single base substitution C T intron_variant MELA-AU 2 162183250 162183250 single base substitution G T intron_variant MELA-AU 2 162183449 162183449 single base substitution C T intron_variant MELA-AU 2 162183563 162183563 single base substitution C T intron_variant MELA-AU 2 162184065 162184065 single base substitution T C intron_variant MELA-AU 2 162185505 162185505 single base substitution T A intron_variant MELA-AU 2 162185766 162185766 single base substitution C T intron_variant MELA-AU 2 162186975 162186975 single base substitution T A intron_variant MELA-AU 2 162187842 162187842 single base substitution C T intron_variant MELA-AU 2 162187875 162187875 single base substitution G C intron_variant MELA-AU 2 162187934 162187934 single base substitution T A intron_variant MELA-AU 2 162188317 162188317 single base substitution C T intron_variant MELA-AU 2 162188396 162188396 single base substitution G A intron_variant MELA-AU 2 162188660 162188660 single base substitution C T intron_variant MELA-AU 2 162188724 162188724 single base substitution C T intron_variant MELA-AU 2 162188843 162188843 single base substitution C T intron_variant MELA-AU 2 162189866 162189866 single base substitution C T intron_variant MELA-AU 2 162190911 162190911 single base substitution G T intron_variant MELA-AU 2 162192228 162192228 single base substitution C T intron_variant MELA-AU 2 162192381 162192381 single base substitution C T intron_variant MELA-AU 2 162192738 162192738 single base substitution C T intron_variant MELA-AU 2 162193065 162193065 single base substitution T A intron_variant MELA-AU 2 162193236 162193236 single base substitution G A intron_variant MELA-AU 2 162193276 162193276 single base substitution G A intron_variant MELA-AU 2 162194360 162194360 single base substitution T C intron_variant MELA-AU 2 162194463 162194463 single base substitution T C intron_variant MELA-AU 2 162194627 162194627 single base substitution C T intron_variant MELA-AU 2 162194722 162194722 single base substitution C T intron_variant MELA-AU 2 162194788 162194788 single base substitution C T intron_variant MELA-AU 2 162195785 162195785 single base substitution C T intron_variant MELA-AU 2 162196136 162196136 single base substitution T G intron_variant MELA-AU 2 162196353 162196353 single base substitution C T intron_variant MELA-AU 2 162197431 162197431 single base substitution C T intron_variant MELA-AU 2 162197495 162197495 single base substitution C T intron_variant MELA-AU 2 162197838 162197838 single base substitution C T intron_variant MELA-AU 2 162197894 162197894 single base substitution C T intron_variant MELA-AU 2 162198819 162198819 single base substitution C T intron_variant MELA-AU 2 162198952 162198952 single base substitution C T intron_variant MELA-AU 2 162199339 162199339 single base substitution C T intron_variant MELA-AU 2 162199552 162199552 single base substitution C T intron_variant MELA-AU 2 162199750 162199750 single base substitution C T intron_variant MELA-AU 2 162199907 162199907 single base substitution C T intron_variant MELA-AU 2 162200423 162200423 single base substitution C T intron_variant MELA-AU 2 162200484 162200484 single base substitution C T intron_variant MELA-AU 2 162200661 162200661 single base substitution C T intron_variant MELA-AU 2 162200662 162200662 single base substitution C T intron_variant MELA-AU 2 162202885 162202885 single base substitution C A intron_variant MELA-AU 2 162202977 162202977 single base substitution C G intron_variant MELA-AU 2 162203365 162203365 single base substitution T G intron_variant MELA-AU 2 162204076 162204076 single base substitution T G intron_variant MELA-AU 2 162205195 162205195 single base substitution G A intron_variant MELA-AU 2 162205324 162205324 single base substitution C T intron_variant MELA-AU 2 162205377 162205377 single base substitution C T intron_variant MELA-AU 2 162205770 162205770 single base substitution C T intron_variant MELA-AU 2 162206286 162206286 single base substitution G C intron_variant MELA-AU 2 162206547 162206547 single base substitution C T intron_variant MELA-AU 2 162206797 162206797 single base substitution C T intron_variant MELA-AU 2 162207657 162207657 single base substitution A G intron_variant MELA-AU 2 162207945 162207945 single base substitution C T intron_variant MELA-AU 2 162208967 162208967 single base substitution C T intron_variant MELA-AU 2 162210049 162210049 single base substitution C A intron_variant MELA-AU 2 162210068 162210068 single base substitution C T intron_variant MELA-AU 2 162211574 162211574 single base substitution G A intron_variant MELA-AU 2 162211652 162211652 single base substitution C T intron_variant MELA-AU 2 162211960 162211960 single base substitution C T intron_variant MELA-AU 2 162212559 162212559 single base substitution T G intron_variant MELA-AU 2 162213056 162213056 single base substitution G A intron_variant MELA-AU 2 162213189 162213189 single base substitution A T intron_variant MELA-AU 2 162213365 162213365 single base substitution C T intron_variant MELA-AU 2 162213701 162213701 single base substitution T C intron_variant MELA-AU 2 162214351 162214351 single base substitution T A intron_variant MELA-AU 2 162214747 162214747 single base substitution C T intron_variant MELA-AU 2 162214893 162214893 single base substitution C T intron_variant MELA-AU 2 162215665 162215665 single base substitution T G intron_variant MELA-AU 2 162215892 162215892 single base substitution T C intron_variant MELA-AU 2 162215905 162215905 single base substitution A T intron_variant MELA-AU 2 162215937 162215937 single base substitution A T intron_variant MELA-AU 2 162217099 162217099 single base substitution C T intron_variant MELA-AU 2 162217979 162217979 single base substitution T C intron_variant MELA-AU 2 162218458 162218458 single base substitution C T intron_variant MELA-AU 2 162218686 162218686 single base substitution C T intron_variant MELA-AU 2 162219025 162219025 single base substitution C T intron_variant MELA-AU 2 162219079 162219079 single base substitution C T intron_variant MELA-AU 2 162219247 162219247 single base substitution C T intron_variant MELA-AU 2 162219596 162219596 single base substitution C T intron_variant MELA-AU 2 162220062 162220062 single base substitution C T intron_variant MELA-AU 2 162220228 162220228 single base substitution T C intron_variant MELA-AU 2 162220254 162220254 single base substitution G A intron_variant MELA-AU 2 162220494 162220494 single base substitution C T intron_variant MELA-AU 2 162220817 162220817 single base substitution C T intron_variant MELA-AU 2 162221084 162221084 single base substitution C T intron_variant MELA-AU 2 162221107 162221107 single base substitution C T intron_variant MELA-AU 2 162222507 162222507 single base substitution C T intron_variant MELA-AU 2 162222909 162222909 single base substitution A T intron_variant MELA-AU 2 162222911 162222911 single base substitution A T intron_variant MELA-AU 2 162223209 162223209 single base substitution C T intron_variant MELA-AU 2 162223322 162223322 single base substitution C T intron_variant MELA-AU 2 162223388 162223388 single base substitution G A intron_variant MELA-AU 2 162223758 162223758 single base substitution G A intron_variant MELA-AU 2 162223858 162223858 single base substitution C T intron_variant MELA-AU 2 162224513 162224513 single base substitution C T intron_variant MELA-AU 2 162224967 162224967 single base substitution T C intron_variant MELA-AU 2 162226021 162226021 single base substitution G A intron_variant MELA-AU 2 162228652 162228652 single base substitution A G downstream_gene_variant MELA-AU 2 162228652 162228652 single base substitution A G intron_variant MELA-AU 2 162229011 162229011 single base substitution C T downstream_gene_variant MELA-AU 2 162229011 162229011 single base substitution C T intron_variant MELA-AU 2 162229879 162229879 single base substitution C T downstream_gene_variant MELA-AU 2 162229879 162229879 single base substitution C T intron_variant MELA-AU 2 162230048 162230048 single base substitution A G downstream_gene_variant MELA-AU 2 162230048 162230048 single base substitution A G intron_variant MELA-AU 2 162230469 162230469 single base substitution C T downstream_gene_variant MELA-AU 2 162230469 162230469 single base substitution C T intron_variant MELA-AU 2 162230576 162230576 single base substitution C T downstream_gene_variant MELA-AU 2 162230576 162230576 single base substitution C T intron_variant MELA-AU 2 162230787 162230787 single base substitution C T downstream_gene_variant MELA-AU 2 162230787 162230787 single base substitution C T intron_variant MELA-AU 2 162231005 162231005 single base substitution A G downstream_gene_variant MELA-AU 2 162231005 162231005 single base substitution A G intron_variant MELA-AU 2 162231208 162231208 single base substitution G A downstream_gene_variant MELA-AU 2 162231208 162231208 single base substitution G A intron_variant MELA-AU 2 162231463 162231463 single base substitution C T downstream_gene_variant MELA-AU 2 162231463 162231463 single base substitution C T intron_variant MELA-AU 2 162232178 162232178 single base substitution A G intron_variant MELA-AU 2 162234206 162234206 single base substitution G A intron_variant MELA-AU 2 162234206 162234206 single base substitution G A upstream_gene_variant MELA-AU 2 162234648 162234648 single base substitution G A intron_variant MELA-AU 2 162234648 162234648 single base substitution G A upstream_gene_variant MELA-AU 2 162235676 162235677 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 162235676 162235677 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 162235733 162235733 single base substitution A G intron_variant MELA-AU 2 162235733 162235733 single base substitution A G upstream_gene_variant MELA-AU 2 162235977 162235977 single base substitution C T intron_variant MELA-AU 2 162235977 162235977 single base substitution C T upstream_gene_variant MELA-AU 2 162236090 162236090 single base substitution C T intron_variant MELA-AU 2 162236090 162236090 single base substitution C T upstream_gene_variant MELA-AU 2 162236170 162236170 single base substitution A T intron_variant MELA-AU 2 162236170 162236170 single base substitution A T upstream_gene_variant MELA-AU 2 162236172 162236172 single base substitution A T intron_variant MELA-AU 2 162236172 162236172 single base substitution A T upstream_gene_variant MELA-AU 2 162236380 162236380 single base substitution C T intron_variant MELA-AU 2 162236380 162236380 single base substitution C T upstream_gene_variant MELA-AU 2 162236404 162236404 single base substitution T G intron_variant MELA-AU 2 162236404 162236404 single base substitution T G upstream_gene_variant MELA-AU 2 162236416 162236417 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 2 162236416 162236417 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant MELA-AU 2 162236536 162236536 single base substitution T C intron_variant MELA-AU 2 162236536 162236536 single base substitution T C upstream_gene_variant MELA-AU 2 162236647 162236647 single base substitution C T intron_variant MELA-AU 2 162236647 162236647 single base substitution C T upstream_gene_variant MELA-AU 2 162236668 162236668 single base substitution G A intron_variant MELA-AU 2 162236668 162236668 single base substitution G A upstream_gene_variant MELA-AU 2 162236701 162236701 single base substitution C T intron_variant MELA-AU 2 162236701 162236701 single base substitution C T upstream_gene_variant MELA-AU 2 162236854 162236854 single base substitution C T intron_variant MELA-AU 2 162236854 162236854 single base substitution C T upstream_gene_variant MELA-AU 2 162237402 162237402 single base substitution C T intron_variant MELA-AU 2 162237402 162237402 single base substitution C T upstream_gene_variant MELA-AU 2 162237688 162237688 single base substitution C T intron_variant MELA-AU 2 162237688 162237688 single base substitution C T upstream_gene_variant MELA-AU 2 162237807 162237807 single base substitution T C intron_variant MELA-AU 2 162237807 162237807 single base substitution T C upstream_gene_variant MELA-AU 2 162238246 162238246 single base substitution C T exon_variant MELA-AU 2 162238246 162238246 single base substitution C T intron_variant MELA-AU 2 162239237 162239237 single base substitution G A exon_variant MELA-AU 2 162239237 162239237 single base substitution G A intron_variant MELA-AU 2 162239376 162239376 single base substitution C T exon_variant MELA-AU 2 162239376 162239376 single base substitution C T intron_variant MELA-AU 2 162239840 162239840 single base substitution T C exon_variant MELA-AU 2 162239840 162239840 single base substitution T C intron_variant MELA-AU 2 162240647 162240647 single base substitution G A exon_variant MELA-AU 2 162240647 162240647 single base substitution G A intron_variant MELA-AU 2 162242158 162242158 single base substitution C T intron_variant MELA-AU 2 162242198 162242198 single base substitution C T intron_variant MELA-AU 2 162242573 162242573 single base substitution T C intron_variant MELA-AU 2 162242892 162242893 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 162243329 162243329 single base substitution G A intron_variant MELA-AU 2 162243414 162243414 single base substitution C T intron_variant MELA-AU 2 162243440 162243440 single base substitution T G intron_variant MELA-AU 2 162243575 162243575 single base substitution C T intron_variant MELA-AU 2 162243839 162243839 single base substitution A T intron_variant MELA-AU 2 162243848 162243848 single base substitution T G intron_variant MELA-AU 2 162243851 162243851 single base substitution C T intron_variant MELA-AU 2 162244312 162244312 single base substitution T A intron_variant MELA-AU 2 162244427 162244427 single base substitution G A intron_variant MELA-AU 2 162244588 162244588 single base substitution C T intron_variant MELA-AU 2 162245568 162245568 single base substitution C T intron_variant MELA-AU 2 162246753 162246753 single base substitution C T intron_variant MELA-AU 2 162246815 162246815 single base substitution C T intron_variant MELA-AU 2 162247125 162247125 single base substitution C T intron_variant MELA-AU 2 162248163 162248163 single base substitution T C intron_variant MELA-AU 2 162248188 162248188 single base substitution G A intron_variant MELA-AU 2 162248662 162248662 single base substitution T C intron_variant MELA-AU 2 162249138 162249138 single base substitution C T intron_variant MELA-AU 2 162249914 162249914 single base substitution C T intron_variant MELA-AU 2 162250390 162250390 single base substitution C T intron_variant MELA-AU 2 162250567 162250567 single base substitution C T intron_variant MELA-AU 2 162250725 162250725 single base substitution C T intron_variant MELA-AU 2 162250836 162250836 single base substitution A C intron_variant MELA-AU 2 162251146 162251146 single base substitution C T intron_variant MELA-AU 2 162254658 162254658 single base substitution G A intron_variant MELA-AU 2 162254711 162254711 single base substitution C T intron_variant MELA-AU 2 162255861 162255861 single base substitution G A intron_variant MELA-AU 2 162255966 162255966 single base substitution T C intron_variant MELA-AU 2 162256731 162256731 single base substitution C T intron_variant MELA-AU 2 162256930 162256930 single base substitution C T intron_variant MELA-AU 2 162257187 162257187 single base substitution C T intron_variant MELA-AU 2 162257250 162257250 single base substitution T G intron_variant MELA-AU 2 162257358 162257358 single base substitution C T intron_variant MELA-AU 2 162257441 162257441 single base substitution C T intron_variant MELA-AU 2 162257591 162257591 single base substitution C T intron_variant MELA-AU 2 162257720 162257720 single base substitution C T intron_variant MELA-AU 2 162258084 162258084 single base substitution T A intron_variant MELA-AU 2 162258089 162258089 single base substitution C T intron_variant MELA-AU 2 162258382 162258382 single base substitution G A intron_variant MELA-AU 2 162258460 162258460 single base substitution C T intron_variant MELA-AU 2 162259229 162259229 single base substitution A T intron_variant MELA-AU 2 162259229 162259229 single base substitution A T upstream_gene_variant MELA-AU 2 162259237 162259237 single base substitution C T intron_variant MELA-AU 2 162259237 162259237 single base substitution C T upstream_gene_variant MELA-AU 2 162259944 162259944 single base substitution C T intron_variant MELA-AU 2 162259944 162259944 single base substitution C T upstream_gene_variant MELA-AU 2 162260145 162260145 single base substitution C T intron_variant MELA-AU 2 162260145 162260145 single base substitution C T upstream_gene_variant MELA-AU 2 162260629 162260629 single base substitution G A intron_variant MELA-AU 2 162260629 162260629 single base substitution G A upstream_gene_variant MELA-AU 2 162260740 162260740 single base substitution C T intron_variant MELA-AU 2 162260740 162260740 single base substitution C T upstream_gene_variant MELA-AU 2 162261496 162261496 single base substitution A G intron_variant MELA-AU 2 162261496 162261496 single base substitution A G upstream_gene_variant MELA-AU 2 162261532 162261532 single base substitution T C intron_variant MELA-AU 2 162261532 162261532 single base substitution T C upstream_gene_variant MELA-AU 2 162261579 162261579 single base substitution C T intron_variant MELA-AU 2 162261579 162261579 single base substitution C T upstream_gene_variant MELA-AU 2 162261968 162261968 single base substitution C T intron_variant MELA-AU 2 162261968 162261968 single base substitution C T upstream_gene_variant MELA-AU 2 162262531 162262531 single base substitution C T intron_variant MELA-AU 2 162262531 162262531 single base substitution C T upstream_gene_variant MELA-AU 2 162262562 162262562 single base substitution G A intron_variant MELA-AU 2 162262562 162262562 single base substitution G A upstream_gene_variant MELA-AU 2 162262761 162262761 single base substitution C G intron_variant MELA-AU 2 162262761 162262761 single base substitution C G upstream_gene_variant MELA-AU 2 162262929 162262929 single base substitution C T intron_variant MELA-AU 2 162262929 162262929 single base substitution C T upstream_gene_variant MELA-AU 2 162263494 162263494 single base substitution C T intron_variant MELA-AU 2 162263494 162263494 single base substitution C T upstream_gene_variant MELA-AU 2 162263898 162263898 single base substitution G A intron_variant MELA-AU 2 162263898 162263898 single base substitution G A upstream_gene_variant MELA-AU 2 162264718 162264718 single base substitution C T exon_variant MELA-AU 2 162264718 162264718 single base substitution C T intron_variant MELA-AU 2 162264763 162264763 single base substitution T C exon_variant MELA-AU 2 162264763 162264763 single base substitution T C intron_variant MELA-AU 2 162265375 162265376 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 162265375 162265376 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P267F 799CC>TT MELA-AU 2 162265621 162265621 single base substitution C T intron_variant MELA-AU 2 162265802 162265802 single base substitution G A intron_variant MELA-AU 2 162265990 162265990 single base substitution C T intron_variant MELA-AU 2 162266360 162266360 single base substitution C T intron_variant MELA-AU 2 162266608 162266608 single base substitution C T intron_variant MELA-AU 2 162266987 162266987 single base substitution C T intron_variant MELA-AU 2 162267248 162267248 single base substitution C T intron_variant MELA-AU 2 162267476 162267476 single base substitution C T intron_variant MELA-AU 2 162267517 162267517 single base substitution A T intron_variant MELA-AU 2 162269380 162269380 single base substitution A T downstream_gene_variant MELA-AU 2 162270633 162270633 single base substitution G C downstream_gene_variant MELA-AU 2 162271600 162271600 single base substitution G C downstream_gene_variant MELA-AU 2 162271866 162271866 single base substitution G T downstream_gene_variant MELA-AU 2 162272199 162272200 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 162272341 162272341 single base substitution G A downstream_gene_variant MELA-AU 2 162272360 162272360 single base substitution G A downstream_gene_variant MELA-AU 2 162272404 162272404 single base substitution G A downstream_gene_variant MELA-AU 2 162272695 162272695 single base substitution C T downstream_gene_variant MELA-AU 2 162272774 162272774 single base substitution G A downstream_gene_variant MELA-AU 2 162273187 162273187 single base substitution G A downstream_gene_variant ORCA-IN 2 162174998 162174998 single base substitution C A intron_variant ORCA-IN 2 162201145 162201147 deletion of <=200bp TTC - intron_variant ORCA-IN 2 162210344 162210344 single base substitution C T intron_variant ORCA-IN 2 162262852 162262852 single base substitution G C intron_variant ORCA-IN 2 162262852 162262852 single base substitution G C upstream_gene_variant OV-AU 2 162159934 162159934 single base substitution T C upstream_gene_variant OV-AU 2 162170985 162170985 single base substitution T C intron_variant OV-AU 2 162176970 162176970 single base substitution G T downstream_gene_variant OV-AU 2 162176970 162176970 single base substitution G T intron_variant OV-AU 2 162178625 162178625 single base substitution A T downstream_gene_variant OV-AU 2 162178625 162178625 single base substitution A T intron_variant OV-AU 2 162180544 162180544 single base substitution T C intron_variant OV-AU 2 162185169 162185169 single base substitution G T intron_variant OV-AU 2 162204935 162204935 single base substitution C T intron_variant OV-AU 2 162229542 162229542 single base substitution T C downstream_gene_variant OV-AU 2 162229542 162229542 single base substitution T C intron_variant OV-AU 2 162232871 162232871 single base substitution A T intron_variant OV-AU 2 162232871 162232871 single base substitution A T upstream_gene_variant OV-AU 2 162254133 162254133 single base substitution A G intron_variant OV-AU 2 162259634 162259634 single base substitution C G intron_variant OV-AU 2 162259634 162259634 single base substitution C G upstream_gene_variant OV-AU 2 162265324 162265324 single base substitution C G exon_variant OV-AU 2 162265324 162265324 single base substitution C G intron_variant PACA-AU 2 162164593 162164593 single base substitution G T 5_prime_UTR_variant PACA-AU 2 162164593 162164593 single base substitution G T upstream_gene_variant PACA-AU 2 162164808 162164808 single base substitution C G 5_prime_UTR_variant PACA-AU 2 162164808 162164808 single base substitution C G upstream_gene_variant PACA-AU 2 162170376 162170376 insertion of <=200bp - TG intron_variant PACA-AU 2 162185483 162185483 single base substitution T C intron_variant PACA-AU 2 162187534 162187534 single base substitution T C intron_variant PACA-AU 2 162212947 162212947 deletion of <=200bp T - intron_variant PACA-AU 2 162215183 162215183 single base substitution C T intron_variant PACA-AU 2 162221680 162221680 single base substitution T C intron_variant PACA-AU 2 162225091 162225091 deletion of <=200bp A - intron_variant PACA-AU 2 162225892 162225892 insertion of <=200bp - TA intron_variant PACA-AU 2 162232651 162232651 single base substitution G A intron_variant PACA-AU 2 162234486 162234486 single base substitution G A intron_variant PACA-AU 2 162234486 162234486 single base substitution G A upstream_gene_variant PACA-AU 2 162237621 162237621 single base substitution T C intron_variant PACA-AU 2 162237621 162237621 single base substitution T C upstream_gene_variant PACA-AU 2 162240264 162240264 single base substitution T A exon_variant PACA-AU 2 162240264 162240264 single base substitution T A intron_variant PACA-AU 2 162241941 162241941 single base substitution A T exon_variant PACA-AU 2 162241941 162241941 single base substitution A T intron_variant PACA-AU 2 162245112 162245112 single base substitution T A intron_variant PACA-AU 2 162246270 162246270 single base substitution G C intron_variant PACA-AU 2 162246271 162246271 single base substitution G T intron_variant PACA-AU 2 162247317 162247317 single base substitution T C intron_variant PACA-AU 2 162256754 162256754 single base substitution T A intron_variant PACA-AU 2 162263134 162263134 single base substitution G T intron_variant PACA-AU 2 162263134 162263134 single base substitution G T upstream_gene_variant PACA-AU 2 162263361 162263361 single base substitution A G intron_variant PACA-AU 2 162263361 162263361 single base substitution A G upstream_gene_variant PACA-AU 2 162264062 162264062 single base substitution C T exon_variant PACA-AU 2 162264062 162264062 single base substitution C T intron_variant PACA-AU 2 162271232 162271232 single base substitution G A downstream_gene_variant PACA-CA 2 162160572 162160572 single base substitution A G upstream_gene_variant PACA-CA 2 162162058 162162058 single base substitution G C upstream_gene_variant PACA-CA 2 162162139 162162139 single base substitution A G upstream_gene_variant PACA-CA 2 162165552 162165552 single base substitution G C intron_variant PACA-CA 2 162167615 162167615 single base substitution C A intron_variant PACA-CA 2 162168908 162168908 single base substitution G A intron_variant PACA-CA 2 162173259 162173259 single base substitution T C intron_variant PACA-CA 2 162175137 162175137 single base substitution A G intron_variant PACA-CA 2 162178979 162178979 single base substitution C G downstream_gene_variant PACA-CA 2 162178979 162178979 single base substitution C G intron_variant PACA-CA 2 162180346 162180346 single base substitution T G downstream_gene_variant PACA-CA 2 162180346 162180346 single base substitution T G intron_variant PACA-CA 2 162182166 162182166 single base substitution G T intron_variant PACA-CA 2 162183143 162183143 single base substitution G A intron_variant PACA-CA 2 162184946 162184946 deletion of <=200bp T - intron_variant PACA-CA 2 162186314 162186314 deletion of <=200bp A - intron_variant PACA-CA 2 162191307 162191307 single base substitution C T intron_variant PACA-CA 2 162191387 162191387 single base substitution T G intron_variant PACA-CA 2 162195087 162195087 single base substitution C A intron_variant PACA-CA 2 162196523 162196523 single base substitution A T intron_variant PACA-CA 2 162196979 162196979 single base substitution G A intron_variant PACA-CA 2 162198380 162198380 single base substitution A T intron_variant PACA-CA 2 162202738 162202738 deletion of <=200bp T - intron_variant PACA-CA 2 162207832 162207832 single base substitution C G intron_variant PACA-CA 2 162208295 162208295 single base substitution G A intron_variant PACA-CA 2 162211924 162211924 single base substitution T G intron_variant PACA-CA 2 162214448 162214448 single base substitution A G intron_variant PACA-CA 2 162218894 162218894 single base substitution T C intron_variant PACA-CA 2 162224420 162224420 single base substitution T C splice_region_variant PACA-CA 2 162226998 162226998 single base substitution G A downstream_gene_variant PACA-CA 2 162226998 162226998 single base substitution G A intron_variant PACA-CA 2 162232485 162232485 single base substitution G A intron_variant PACA-CA 2 162232498 162232498 single base substitution T C intron_variant PACA-CA 2 162232500 162232500 single base substitution T C intron_variant PACA-CA 2 162232617 162232617 insertion of <=200bp - AT intron_variant PACA-CA 2 162233990 162233990 single base substitution T C intron_variant PACA-CA 2 162233990 162233990 single base substitution T C upstream_gene_variant PACA-CA 2 162236083 162236083 insertion of <=200bp - T intron_variant PACA-CA 2 162236083 162236083 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 162244849 162244849 single base substitution T C intron_variant PACA-CA 2 162245661 162245661 single base substitution T C intron_variant PACA-CA 2 162246334 162246334 single base substitution T C intron_variant PACA-CA 2 162246536 162246536 single base substitution C T intron_variant PACA-CA 2 162250257 162250257 single base substitution G A intron_variant PACA-CA 2 162251015 162251015 single base substitution G T intron_variant PACA-CA 2 162253657 162253657 single base substitution T C intron_variant PACA-CA 2 162255458 162255458 single base substitution C A intron_variant PACA-CA 2 162260490 162260490 single base substitution C T intron_variant PACA-CA 2 162260490 162260490 single base substitution C T upstream_gene_variant PACA-CA 2 162265814 162265814 single base substitution G A intron_variant PACA-CA 2 162269830 162269830 single base substitution T A downstream_gene_variant PACA-CA 2 162272441 162272441 insertion of <=200bp - G downstream_gene_variant PACA-CA 2 162273038 162273038 single base substitution T A downstream_gene_variant PAEN-AU 2 162222037 162222037 single base substitution C G intron_variant PAEN-AU 2 162260191 162260191 single base substitution G T intron_variant PAEN-AU 2 162260191 162260191 single base substitution G T upstream_gene_variant PAEN-IT 2 162186423 162186423 single base substitution G T intron_variant PAEN-IT 2 162242899 162242899 single base substitution C A intron_variant PAEN-IT 2 162265354 162265354 single base substitution G A exon_variant PAEN-IT 2 162265354 162265354 single base substitution G A missense_variant E260K 778G>A PBCA-DE 2 162168392 162168392 single base substitution C A intron_variant PBCA-DE 2 162168574 162168578 deletion of <=200bp AAGAA - intron_variant PBCA-DE 2 162172147 162172147 insertion of <=200bp - T intron_variant PBCA-DE 2 162176428 162176428 single base substitution G A downstream_gene_variant PBCA-DE 2 162176428 162176428 single base substitution G A intron_variant PBCA-DE 2 162181113 162181115 deletion of <=200bp TGT - intron_variant PBCA-DE 2 162206655 162206655 single base substitution A T intron_variant PBCA-DE 2 162228649 162228649 single base substitution T A downstream_gene_variant PBCA-DE 2 162228649 162228649 single base substitution T A intron_variant PBCA-DE 2 162229999 162229999 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 162229999 162229999 insertion of <=200bp - T intron_variant PBCA-DE 2 162239361 162239361 single base substitution A G exon_variant PBCA-DE 2 162239361 162239361 single base substitution A G intron_variant PBCA-DE 2 162254454 162254454 single base substitution T C intron_variant PBCA-DE 2 162257652 162257652 single base substitution G A intron_variant PBCA-DE 2 162262669 162262669 insertion of <=200bp - A intron_variant PBCA-DE 2 162262669 162262669 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 162271681 162271682 deletion of <=200bp AC - downstream_gene_variant PRAD-CA 2 162171369 162171369 single base substitution G A intron_variant PRAD-CA 2 162187876 162187876 single base substitution C A intron_variant PRAD-CA 2 162211521 162211521 single base substitution G A intron_variant PRAD-CA 2 162244983 162244983 single base substitution G T intron_variant PRAD-CA 2 162257217 162257217 single base substitution A G intron_variant PRAD-CA 2 162271548 162271548 single base substitution T A downstream_gene_variant PRAD-UK 2 162160990 162160990 single base substitution G A upstream_gene_variant PRAD-UK 2 162163606 162163606 single base substitution C G upstream_gene_variant PRAD-UK 2 162166387 162166387 single base substitution C T intron_variant PRAD-UK 2 162171369 162171369 single base substitution G A intron_variant PRAD-UK 2 162176428 162176428 single base substitution G A downstream_gene_variant PRAD-UK 2 162176428 162176428 single base substitution G A intron_variant PRAD-UK 2 162179481 162179481 single base substitution G C downstream_gene_variant PRAD-UK 2 162179481 162179481 single base substitution G C intron_variant PRAD-UK 2 162202738 162202738 deletion of <=200bp T - intron_variant PRAD-UK 2 162211015 162211015 single base substitution T C intron_variant PRAD-UK 2 162223703 162223731 deletion of <=200bp GCTAATTGGTACATTATAGCCATGTTGTA - intron_variant PRAD-UK 2 162262931 162262931 single base substitution C G intron_variant PRAD-UK 2 162262931 162262931 single base substitution C G upstream_gene_variant PRAD-UK 2 162265873 162265873 single base substitution A T intron_variant READ-US 2 162267823 162267823 single base substitution G A exon_variant READ-US 2 162267823 162267823 single base substitution G A missense_variant R282H 845G>A RECA-EU 2 162182867 162182867 single base substitution A T intron_variant RECA-EU 2 162187960 162187960 single base substitution G A intron_variant RECA-EU 2 162187989 162187989 single base substitution T A intron_variant RECA-EU 2 162192273 162192273 single base substitution G T intron_variant RECA-EU 2 162196516 162196516 single base substitution G T intron_variant RECA-EU 2 162196517 162196517 single base substitution A C intron_variant RECA-EU 2 162204599 162204599 single base substitution T C intron_variant RECA-EU 2 162205418 162205418 single base substitution T C intron_variant RECA-EU 2 162206550 162206550 single base substitution A T intron_variant RECA-EU 2 162211289 162211289 single base substitution T A intron_variant RECA-EU 2 162211940 162211940 single base substitution T C intron_variant RECA-EU 2 162212756 162212756 single base substitution C T intron_variant RECA-EU 2 162225475 162225475 single base substitution T A intron_variant RECA-EU 2 162225785 162225785 single base substitution A G intron_variant RECA-EU 2 162246403 162246403 single base substitution T G intron_variant RECA-EU 2 162246764 162246764 single base substitution C T intron_variant RECA-EU 2 162247873 162247873 single base substitution T G intron_variant SKCA-BR 2 162164089 162164089 single base substitution T C upstream_gene_variant SKCA-BR 2 162168668 162168668 single base substitution T C intron_variant SKCA-BR 2 162168941 162168941 single base substitution C T intron_variant SKCA-BR 2 162169951 162169951 single base substitution C T intron_variant SKCA-BR 2 162169971 162169971 single base substitution C T intron_variant SKCA-BR 2 162170674 162170674 single base substitution C T intron_variant SKCA-BR 2 162173641 162173641 single base substitution T C intron_variant SKCA-BR 2 162174005 162174005 single base substitution G A intron_variant SKCA-BR 2 162183280 162183280 single base substitution C T intron_variant SKCA-BR 2 162186793 162186793 single base substitution C T intron_variant SKCA-BR 2 162187768 162187768 single base substitution A G intron_variant SKCA-BR 2 162190992 162190992 single base substitution C T intron_variant SKCA-BR 2 162190993 162190993 single base substitution C T intron_variant SKCA-BR 2 162194629 162194629 single base substitution A C intron_variant SKCA-BR 2 162197323 162197323 single base substitution C T intron_variant SKCA-BR 2 162197709 162197709 single base substitution T G intron_variant SKCA-BR 2 162197974 162197974 single base substitution T A intron_variant SKCA-BR 2 162198378 162198378 insertion of <=200bp - AAT intron_variant SKCA-BR 2 162199130 162199130 insertion of <=200bp - CT intron_variant SKCA-BR 2 162201061 162201061 single base substitution T C intron_variant SKCA-BR 2 162201721 162201721 single base substitution C T intron_variant SKCA-BR 2 162214978 162214978 single base substitution T C intron_variant SKCA-BR 2 162218354 162218354 single base substitution T G intron_variant SKCA-BR 2 162218588 162218588 single base substitution A T intron_variant SKCA-BR 2 162219795 162219795 single base substitution G C intron_variant SKCA-BR 2 162225166 162225166 single base substitution T C intron_variant SKCA-BR 2 162226965 162226965 single base substitution T C downstream_gene_variant SKCA-BR 2 162226965 162226965 single base substitution T C intron_variant SKCA-BR 2 162227298 162227298 single base substitution C T downstream_gene_variant SKCA-BR 2 162227298 162227298 single base substitution C T intron_variant SKCA-BR 2 162232996 162232996 single base substitution C T intron_variant SKCA-BR 2 162232996 162232996 single base substitution C T upstream_gene_variant SKCA-BR 2 162241877 162241877 single base substitution C T exon_variant SKCA-BR 2 162241877 162241877 single base substitution C T intron_variant SKCA-BR 2 162241962 162241962 single base substitution C T exon_variant SKCA-BR 2 162241962 162241962 single base substitution C T intron_variant SKCA-BR 2 162246394 162246394 insertion of <=200bp - TTTG intron_variant SKCA-BR 2 162246400 162246400 insertion of <=200bp - GTTGTTT intron_variant SKCA-BR 2 162246400 162246400 insertion of <=200bp - GTTGTTTTTTTTTTTTT intron_variant SKCA-BR 2 162246401 162246401 insertion of <=200bp - TTG intron_variant SKCA-BR 2 162246402 162246402 insertion of <=200bp - TG intron_variant SKCA-BR 2 162246403 162246403 single base substitution T G intron_variant SKCA-BR 2 162247738 162247738 single base substitution C T intron_variant SKCA-BR 2 162254917 162254917 single base substitution C T intron_variant SKCA-BR 2 162259269 162259269 single base substitution A G intron_variant SKCA-BR 2 162259269 162259269 single base substitution A G upstream_gene_variant SKCA-BR 2 162260623 162260623 single base substitution C T intron_variant SKCA-BR 2 162260623 162260623 single base substitution C T upstream_gene_variant SKCA-BR 2 162261227 162261227 single base substitution C T intron_variant SKCA-BR 2 162261227 162261227 single base substitution C T upstream_gene_variant SKCA-BR 2 162261362 162261362 single base substitution A G intron_variant SKCA-BR 2 162261362 162261362 single base substitution A G upstream_gene_variant SKCA-BR 2 162262031 162262031 single base substitution A G intron_variant SKCA-BR 2 162262031 162262031 single base substitution A G upstream_gene_variant SKCA-BR 2 162264579 162264579 single base substitution T G exon_variant SKCA-BR 2 162264579 162264579 single base substitution T G intron_variant SKCA-BR 2 162266695 162266695 single base substitution C T intron_variant SKCM-US 2 162273044 162273044 single base substitution G A downstream_gene_variant SKCM-US 2 162273129 162273129 single base substitution G T downstream_gene_variant SKCM-US 2 162273212 162273212 single base substitution C T downstream_gene_variant STAD-US 2 162227710 162227710 deletion of <=200bp C - downstream_gene_variant STAD-US 2 162227710 162227710 deletion of <=200bp C - frameshift_variant H113 UCEC-US 2 162175372 162175372 single base substitution T C exon_variant UCEC-US 2 162175372 162175372 single base substitution T C synonymous_variant P12P 36T>C UCEC-US 2 162224372 162224372 single base substitution C A synonymous_variant T66T 198C>A UCEC-US 2 162242049 162242049 single base substitution G A exon_variant UCEC-US 2 162242049 162242049 single base substitution G A synonymous_variant S179S 537G>A UCEC-US 2 162251667 162251667 single base substitution G T exon_variant UCEC-US 2 162251667 162251667 single base substitution G T stop_gained E242* 724G>T UCEC-US 2 162267823 162267823 single base substitution G A exon_variant UCEC-US 2 162267823 162267823 single base substitution G A missense_variant R282H 845G>A UCEC-US 2 162273064 162273064 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC163 COSM3708981 c.738A>G p.K246K Substitution - coding silent 2:161395170-161395170 + TCGA-A4-7996-01 COSM3990679 c.444T>C p.I148I Substitution - coding silent 2:161371304-161371304 + 3030_T COSM3961351 c.120+1G>T p.? Unknown 2:161367550-161367550 + HCC086T COSM5813210 c.463-2A>C p.? Unknown 2:161385462-161385462 + TCGA-AZ-4315-01 COSM1400400 c.536C>T p.S179L Substitution - Missense 2:161385537-161385537 + ITNET_1047_T COSM4963390 c.778G>A p.E260K Substitution - Missense 2:161408843-161408843 + CSCC-49-T COSM4455602 c.830A>G p.K277R Substitution - Missense 2:161408895-161408895 + CSCC-19-T COSM4487098 c.313C>T p.P105S Substitution - Missense 2:161371173-161371173 + J30_T COSM3961352 c.489C>G p.I163M Substitution - Missense 2:161385490-161385490 + Gp2D COSM4627927 c.850T>C p.L284L Substitution - coding silent 2:161411317-161411317 + TCGA-D1-A17B-01 COSM1008264 c.36T>C p.P12P Substitution - coding silent 2:161318861-161318861 + TCGA-CC-A3MC-01 COSM4919506 c.347C>G p.P116R Substitution - Missense 2:161371207-161371207 + ESCC_108 COSM5638694 c.259G>T p.V87F Substitution - Missense 2:161370125-161370125 + PR-01-2554 COSM246841 c.226C>T p.P76S Substitution - Missense 2:161367889-161367889 + HCC163T COSM3708981 c.738A>G p.K246K Substitution - coding silent 2:161395170-161395170 + CSCC-16-T COSM3837157 c.104C>T p.S35F Substitution - Missense 2:161367533-161367533 + WA12 COSM241283 c.913G>A p.D305N Substitution - Missense 2:161411380-161411380 + HCT116 COSM3310838 c.341G>A p.S114N Substitution - Missense 2:161371201-161371201 + TCGA-AG-3892-01 COSM257825 c.615T>G p.I205M Substitution - Missense 2:161391148-161391148 + 5_FL COSM4171120 c.836A>T p.D279V Substitution - Missense 2:161411303-161411303 + 107738 COSM95095 c.440C>A p.P147H Substitution - Missense 2:161371300-161371300 + TCGA-34-5232-01 COSM717266 c.570+1G>C p.? Unknown 2:161385572-161385572 + PDA_030 COSM4999461 c.463G>T p.V155F Substitution - Missense 2:161385464-161385464 + 587342 COSM1222343 c.712T>C p.C238R Substitution - Missense 2:161395144-161395144 + TCGA-QG-A5YW-01 COSM5186172 c.511G>C p.G171R Substitution - Missense 2:161385512-161385512 + TCGA-AN-A04A-01 COSM441314 c.15T>G p.L5L Substitution - coding silent 2:161318840-161318840 + TCGA-29-1688-01 COSM1325835 c.25_36del12 p.G10_G13delGMPG Deletion - In frame 2:161318850-161318861 + TCGA-EI-6917-01 COSM1008268 c.845G>A p.R282H Substitution - Missense 2:161411312-161411312 + TCGA-G4-6588-01 COSM5178995 c.48+3T>C p.? Unknown 2:161318876-161318876 + STC263 COSM5058178 c.471T>C p.I157I Substitution - coding silent 2:161385472-161385472 + TCGA-AC-A23H-01 COSM3837157 c.104C>T p.S35F Substitution - Missense 2:161367533-161367533 + TCGA-D1-A17Q-01 COSM1008268 c.845G>A p.R282H Substitution - Missense 2:161411312-161411312 + XHDG27 COSM4769137 c.400G>C p.E134Q Substitution - Missense 2:161371260-161371260 + 587256 COSM1222345 c.277G>A p.A93T Substitution - Missense 2:161370143-161370143 + TCGA-AX-A063-01 COSM1008265 c.198C>A p.T66T Substitution - coding silent 2:161367861-161367861 + TCGA-BS-A0UV-01 COSM1008267 c.724G>T p.E242* Substitution - Nonsense 2:161395156-161395156 + C5 COSM5037406 c.140C>G p.A47G Substitution - Missense 2:161367803-161367803 + 587234 COSM1222344 c.551T>C p.L184S Substitution - Missense 2:161385552-161385552 + 61 COSM5736231 c.35C>T p.P12L Substitution - Missense 2:161318860-161318860 + TCGA-22-4595-01 COSM717267 c.95A>G p.Y32C Substitution - Missense 2:161367524-161367524 + TCGA-AA-3510-01 COSM1400401 c.835G>A p.D279N Substitution - Missense 2:161411302-161411302 + TCGA-AA-3852-01 COSM295674 c.570G>A p.Q190Q Substitution - coding silent 2:161385571-161385571 + TCGA-66-2785-01 COSM717268 c.13C>G p.L5V Substitution - Missense 2:161318838-161318838 + LIM2405 COSM4642524 c.160A>G p.M54V Substitution - Missense 2:161367823-161367823 + 40 COSM5014257 c.73G>A p.V25M Substitution - Missense 2:161367502-161367502 + MT-439-T2 COSM5651538 c.894G>T p.Q298H Substitution - Missense 2:161411361-161411361 + 1047T COSM4963390 c.778G>A p.E260K Substitution - Missense 2:161408843-161408843 + TCGA-AP-A059-01 COSM1008266 c.537G>A p.S179S Substitution - coding silent 2:161385538-161385538 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.740477 2q24.2 607173 2451525|CGAP|BC066336|A/T|non-coding||68|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.771+6002A>G 2 162257716 CLL A G Missense p.I205V c.613A>G 2 162247657 HNSC A G Missense p.T27A c.79A>G 2 162224019 HNSC A G Missense p.Y32C c.95A>G 2 162224035 LUSC C A Synonymous p.T66T c.198C>A 2 162224372 UCEC C G Missense p.Q298E c.892C>G 2 162267870 CM G A Missense p.R46H c.137G>A 2 162224311 LUAD G A Synonymous p.Q190Q c.570G>A 2 162242082 COREAD G C SpliceDonorSNV . c.570+1G>C 2 162242083 LUSC G T Missense p.G10V c.29G>T 2 162175365 LUAD T C Synonymous p.P12P c.36T>C 2 162175372 UCEC T G Synonymous p.L5L c.15T>G 2 162175351 BRCA