Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 20 3954983 3954983 + Intron SNP C C A TCGA-OR-A5JY-01A-31D-A29I-10 TCGA-OR-A5JY-10A-01D-A29L-10 g.chr20:3954983C>A BLCA 20 3928904 3928904 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr20:3928904C>G c.166G>C c.(166-168)Gaa>Caa p.E56Q BRCA 20 3944669 3944669 + 5'UTR SNP G G A TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 g.chr20:3944669G>A COAD 20 3914788 3914788 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:3914788T>C c.369A>G c.(367-369)ctA>ctG p.L123L COAD 20 3914823 3914823 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:3914823G>A c.334C>T c.(334-336)Cgt>Tgt p.R112C COADREAD 20 3914788 3914788 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:3914788T>C c.369A>G c.(367-369)ctA>ctG p.L123L COADREAD 20 3914823 3914823 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr20:3914823G>A c.334C>T c.(334-336)Cgt>Tgt p.R112C COADREAD 20 3944554 3944554 + Missense_Mutation SNP G G C TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr20:3944554G>C c.111C>G c.(109-111)atC>atG p.I37M ESCA 20 3944539 3944539 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr20:3944539G>T c.126C>A c.(124-126)ttC>ttA p.F42L GBMLGG 20 3925866 3925866 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:3925866C>A c.e4-1 HNSC 20 3914726 3914726 + Missense_Mutation SNP G G A TCGA-CV-7430-01A-11D-2129-08 TCGA-CV-7430-10A-01D-2129-08 g.chr20:3914726G>A c.431C>T c.(430-432)gCa>gTa p.A144V HNSC 20 3944599 3944599 + Silent SNP G G A TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr20:3944599G>A c.66C>T c.(64-66)ctC>ctT p.L22L LGG 20 3925866 3925866 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:3925866C>A c.e4-1 LUAD 20 3914811 3914811 + Missense_Mutation SNP G G A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr20:3914811G>A c.346C>T c.(346-348)Ccc>Tcc p.P116S PAAD 20 3914846 3914846 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:3914846C>T c.311G>A c.(310-312)tGc>tAc p.C104Y PRAD 20 3915668 3915668 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr20:3915668C>T c.281G>A c.(280-282)tGc>tAc p.C94Y READ 20 3944554 3944554 + Missense_Mutation SNP G G C TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr20:3944554G>C c.111C>G c.(109-111)atC>atG p.I37M SKCM 20 3914733 3914733 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr20:3914733G>A c.424C>T c.(424-426)Cct>Tct p.P142S SKCM 20 3915673 3915673 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:3915673C>T c.276G>A c.(274-276)ggG>ggA p.G92G SKCM 20 3944649 3944649 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr20:3944649G>A c.16C>T c.(16-18)Cca>Tca p.P6S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 20 3908029 3908029 single base substitution G C 3_prime_UTR_variant BOCA-FR 20 3908029 3908029 single base substitution G C downstream_gene_variant BRCA-EU 20 3903310 3903310 single base substitution C G downstream_gene_variant BRCA-EU 20 3903472 3903472 single base substitution C T downstream_gene_variant BRCA-EU 20 3904852 3904852 single base substitution C A downstream_gene_variant BRCA-EU 20 3905229 3905229 single base substitution G A downstream_gene_variant BRCA-EU 20 3906701 3906701 single base substitution G C downstream_gene_variant BRCA-EU 20 3907771 3907771 single base substitution C T downstream_gene_variant BRCA-EU 20 3909605 3909605 single base substitution C A 3_prime_UTR_variant BRCA-EU 20 3909605 3909605 single base substitution C A downstream_gene_variant BRCA-EU 20 3911400 3911400 single base substitution T C 3_prime_UTR_variant BRCA-EU 20 3911400 3911400 single base substitution T C downstream_gene_variant BRCA-EU 20 3911439 3911439 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 3911439 3911439 single base substitution G C downstream_gene_variant BRCA-EU 20 3911932 3911932 single base substitution A G 3_prime_UTR_variant BRCA-EU 20 3911932 3911932 single base substitution A G downstream_gene_variant BRCA-EU 20 3913247 3913247 single base substitution T C 3_prime_UTR_variant BRCA-EU 20 3913247 3913247 single base substitution T C downstream_gene_variant BRCA-EU 20 3913556 3913556 single base substitution T C 3_prime_UTR_variant BRCA-EU 20 3913556 3913556 single base substitution T C downstream_gene_variant BRCA-EU 20 3915749 3915749 single base substitution A C intron_variant BRCA-EU 20 3916543 3916543 single base substitution G A intron_variant BRCA-EU 20 3917731 3917731 single base substitution G T intron_variant BRCA-EU 20 3917841 3917841 single base substitution C G intron_variant BRCA-EU 20 3920672 3920672 single base substitution C A intron_variant BRCA-EU 20 3921389 3921389 single base substitution C T intron_variant BRCA-EU 20 3922258 3922258 deletion of <=200bp A - intron_variant BRCA-EU 20 3922982 3922982 single base substitution A T intron_variant BRCA-EU 20 3925155 3925155 single base substitution A G intron_variant BRCA-EU 20 3925633 3925633 single base substitution A T intron_variant BRCA-EU 20 3925726 3925726 deletion of <=200bp T - intron_variant BRCA-EU 20 3927015 3927015 single base substitution C T intron_variant BRCA-EU 20 3929281 3929281 single base substitution G A intron_variant BRCA-EU 20 3929930 3929930 single base substitution G C intron_variant BRCA-EU 20 3930239 3930239 single base substitution G T intron_variant BRCA-EU 20 3930534 3930534 single base substitution C T intron_variant BRCA-EU 20 3932097 3932097 single base substitution A G intron_variant BRCA-EU 20 3932725 3932725 single base substitution G C intron_variant BRCA-EU 20 3933398 3933398 deletion of <=200bp A - intron_variant BRCA-EU 20 3933743 3933743 single base substitution G C intron_variant BRCA-EU 20 3938424 3938424 single base substitution A G intron_variant BRCA-EU 20 3940348 3940348 deletion of <=200bp T - intron_variant BRCA-EU 20 3940353 3940353 single base substitution T C intron_variant BRCA-EU 20 3941937 3941937 single base substitution T G intron_variant BRCA-EU 20 3942341 3942341 deletion of <=200bp T - intron_variant BRCA-EU 20 3943532 3943532 single base substitution G C intron_variant BRCA-EU 20 3944253 3944253 single base substitution A G intron_variant BRCA-EU 20 3945346 3945346 single base substitution A T intron_variant BRCA-EU 20 3945655 3945655 deletion of <=200bp A - intron_variant BRCA-EU 20 3946601 3946601 single base substitution C G intron_variant BRCA-EU 20 3946943 3946943 insertion of <=200bp - TA intron_variant BRCA-EU 20 3947045 3947045 single base substitution G C intron_variant BRCA-EU 20 3948449 3948449 single base substitution T C intron_variant BRCA-EU 20 3949221 3949221 single base substitution C G intron_variant BRCA-EU 20 3949519 3949519 single base substitution G T intron_variant BRCA-EU 20 3950225 3950225 single base substitution C G intron_variant BRCA-EU 20 3950425 3950425 single base substitution T G intron_variant BRCA-EU 20 3950541 3950541 single base substitution C A intron_variant BRCA-EU 20 3951112 3951112 single base substitution G T intron_variant BRCA-EU 20 3952311 3952311 single base substitution T C intron_variant BRCA-EU 20 3953678 3953678 single base substitution C A intron_variant BRCA-EU 20 3954377 3954377 single base substitution C G intron_variant BRCA-EU 20 3954787 3954787 deletion of <=200bp T - intron_variant BRCA-EU 20 3954918 3954918 single base substitution C T intron_variant BRCA-EU 20 3955162 3955162 single base substitution T C intron_variant BRCA-EU 20 3955162 3955162 single base substitution T C upstream_gene_variant BRCA-EU 20 3955615 3955615 single base substitution G A intron_variant BRCA-EU 20 3955615 3955615 single base substitution G A upstream_gene_variant BRCA-EU 20 3955747 3955747 single base substitution C A intron_variant BRCA-EU 20 3955747 3955747 single base substitution C A upstream_gene_variant BRCA-EU 20 3955857 3955857 deletion of <=200bp A - intron_variant BRCA-EU 20 3955857 3955857 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 3956128 3956128 deletion of <=200bp A - intron_variant BRCA-EU 20 3956128 3956128 deletion of <=200bp A - upstream_gene_variant BRCA-EU 20 3956469 3956469 single base substitution G C intron_variant BRCA-EU 20 3956469 3956469 single base substitution G C upstream_gene_variant BRCA-EU 20 3958116 3958116 single base substitution G C intron_variant BRCA-EU 20 3958116 3958116 single base substitution G C upstream_gene_variant BRCA-EU 20 3958332 3958332 single base substitution G A intron_variant BRCA-EU 20 3958332 3958332 single base substitution G A upstream_gene_variant BRCA-EU 20 3958801 3958801 single base substitution C A intron_variant BRCA-EU 20 3958801 3958801 single base substitution C A upstream_gene_variant BRCA-EU 20 3959032 3959032 single base substitution T G intron_variant BRCA-EU 20 3959032 3959032 single base substitution T G upstream_gene_variant BRCA-EU 20 3960040 3960040 single base substitution A T intron_variant BRCA-EU 20 3960976 3960976 single base substitution G C intron_variant BRCA-EU 20 3961615 3961615 insertion of <=200bp - G intron_variant BRCA-EU 20 3961810 3961810 single base substitution C A intron_variant BRCA-EU 20 3966049 3966049 deletion of <=200bp T - intron_variant BRCA-EU 20 3966730 3966730 single base substitution C G intron_variant BRCA-EU 20 3967132 3967132 single base substitution G A intron_variant BRCA-EU 20 3969764 3969764 single base substitution G C intron_variant BRCA-EU 20 3970096 3970096 single base substitution C A intron_variant BRCA-EU 20 3970097 3970097 single base substitution C G intron_variant BRCA-EU 20 3970411 3970411 single base substitution T C intron_variant BRCA-EU 20 3970898 3970898 deletion of <=200bp A - intron_variant BRCA-EU 20 3971348 3971348 single base substitution C T intron_variant BRCA-EU 20 3971356 3971356 single base substitution C T intron_variant BRCA-EU 20 3971440 3971440 single base substitution C G intron_variant BRCA-EU 20 3971933 3971933 single base substitution C G intron_variant BRCA-EU 20 3972212 3972212 single base substitution T G intron_variant BRCA-EU 20 3972745 3972745 single base substitution G C intron_variant BRCA-EU 20 3974422 3974422 single base substitution C G intron_variant BRCA-EU 20 3977601 3977601 single base substitution C T intron_variant BRCA-EU 20 3979436 3979436 single base substitution T A intron_variant BRCA-EU 20 3983588 3983588 single base substitution C T intron_variant BRCA-EU 20 3984754 3984754 single base substitution C T intron_variant BRCA-EU 20 3985955 3985955 single base substitution A G intron_variant BRCA-EU 20 3986043 3986043 single base substitution G C intron_variant BRCA-EU 20 3986540 3986540 single base substitution G T intron_variant BRCA-EU 20 3986604 3986604 single base substitution T C intron_variant BRCA-EU 20 3986655 3986655 single base substitution C G intron_variant BRCA-EU 20 3987746 3987746 single base substitution C T intron_variant BRCA-EU 20 3991296 3991299 deletion of <=200bp CTCT - intron_variant BRCA-EU 20 3991698 3991698 single base substitution A C intron_variant BRCA-EU 20 3996504 3996504 single base substitution G A upstream_gene_variant BRCA-EU 20 3996598 3996598 single base substitution C A upstream_gene_variant BRCA-EU 20 3996747 3996747 single base substitution C T upstream_gene_variant BRCA-EU 20 3997295 3997295 single base substitution G A upstream_gene_variant BRCA-EU 20 3997990 3997990 single base substitution C A upstream_gene_variant BRCA-EU 20 3999188 3999188 single base substitution G A upstream_gene_variant BRCA-FR 20 3903472 3903472 single base substitution C T downstream_gene_variant BRCA-FR 20 3904852 3904852 single base substitution C A downstream_gene_variant BRCA-FR 20 3909915 3909915 single base substitution C A 3_prime_UTR_variant BRCA-FR 20 3909915 3909915 single base substitution C A downstream_gene_variant BRCA-FR 20 3917731 3917731 single base substitution G T intron_variant BRCA-FR 20 3920672 3920672 single base substitution C A intron_variant BRCA-FR 20 3921389 3921389 single base substitution C T intron_variant BRCA-FR 20 3929281 3929281 single base substitution G A intron_variant BRCA-FR 20 3949221 3949221 single base substitution C G intron_variant BRCA-FR 20 3960976 3960976 single base substitution G C intron_variant BRCA-FR 20 3967150 3967150 single base substitution T G intron_variant BRCA-FR 20 3969358 3969358 single base substitution G C intron_variant BRCA-FR 20 3971933 3971933 single base substitution C G intron_variant BRCA-FR 20 3974422 3974422 single base substitution C G intron_variant BRCA-FR 20 3983588 3983588 single base substitution C T intron_variant BRCA-FR 20 3986604 3986604 single base substitution T C intron_variant BRCA-FR 20 3991698 3991698 single base substitution A C intron_variant BRCA-UK 20 3917841 3917841 single base substitution C G intron_variant BRCA-UK 20 3945128 3945128 single base substitution C G intron_variant BRCA-UK 20 3958996 3958996 single base substitution T G intron_variant BRCA-UK 20 3958996 3958996 single base substitution T G upstream_gene_variant BRCA-UK 20 3965769 3965769 single base substitution C A intron_variant BRCA-UK 20 3982355 3982355 single base substitution G A intron_variant BRCA-UK 20 3987977 3987977 single base substitution G A intron_variant BRCA-US 20 3944669 3944669 single base substitution G A missense_variant S20L 59C>T BRCA-US 20 3944669 3944669 single base substitution G A splice_region_variant BTCA-JP 20 3925726 3925726 deletion of <=200bp T - intron_variant BTCA-JP 20 3928845 3928845 deletion of <=200bp A - intron_variant CESC-US 20 3904042 3904042 single base substitution A T downstream_gene_variant CESC-US 20 3904080 3904080 single base substitution C T downstream_gene_variant CLLE-ES 20 3909492 3909496 deletion of <=200bp TTTTC - 3_prime_UTR_variant CLLE-ES 20 3909492 3909496 deletion of <=200bp TTTTC - downstream_gene_variant CLLE-ES 20 3920015 3920015 single base substitution T C intron_variant CLLE-ES 20 3939812 3939812 single base substitution T C intron_variant COAD-US 20 3914788 3914788 single base substitution T C synonymous_variant L123L 369A>G COAD-US 20 3914788 3914788 single base substitution T C synonymous_variant L144L 432A>G COCA-CN 20 3915780 3915780 single base substitution G T intron_variant COCA-CN 20 3915847 3915847 single base substitution A G intron_variant COCA-CN 20 3928950 3928950 single base substitution C T intron_variant COCA-CN 20 3954789 3954789 single base substitution T A intron_variant EOPC-DE 20 3919623 3919623 single base substitution C T intron_variant EOPC-DE 20 3933175 3933175 single base substitution A G intron_variant EOPC-DE 20 3957665 3957665 single base substitution C A intron_variant EOPC-DE 20 3957665 3957665 single base substitution C A upstream_gene_variant EOPC-DE 20 3961684 3961684 single base substitution G C intron_variant EOPC-DE 20 3979390 3979390 single base substitution G A intron_variant EOPC-DE 20 3979397 3979397 single base substitution C T intron_variant EOPC-DE 20 3987534 3987534 single base substitution C A intron_variant ESAD-UK 20 3905790 3905790 single base substitution C T downstream_gene_variant ESAD-UK 20 3906622 3906622 single base substitution G A downstream_gene_variant ESAD-UK 20 3906675 3906675 single base substitution A G downstream_gene_variant ESAD-UK 20 3909781 3909781 single base substitution C T 3_prime_UTR_variant ESAD-UK 20 3909781 3909781 single base substitution C T downstream_gene_variant ESAD-UK 20 3910070 3910070 single base substitution G C 3_prime_UTR_variant ESAD-UK 20 3910070 3910070 single base substitution G C downstream_gene_variant ESAD-UK 20 3911834 3911834 single base substitution G A 3_prime_UTR_variant ESAD-UK 20 3911834 3911834 single base substitution G A downstream_gene_variant ESAD-UK 20 3915382 3915382 single base substitution A G intron_variant ESAD-UK 20 3917503 3917503 single base substitution G C intron_variant ESAD-UK 20 3917714 3917714 single base substitution G A intron_variant ESAD-UK 20 3918684 3918684 single base substitution G A intron_variant ESAD-UK 20 3920933 3920933 single base substitution G T intron_variant ESAD-UK 20 3921329 3921329 single base substitution C T intron_variant ESAD-UK 20 3922942 3922942 single base substitution A C intron_variant ESAD-UK 20 3924941 3924941 single base substitution C G intron_variant ESAD-UK 20 3925661 3925662 deletion of <=200bp CA - intron_variant ESAD-UK 20 3926171 3926171 single base substitution G T intron_variant ESAD-UK 20 3926873 3926873 single base substitution G A intron_variant ESAD-UK 20 3932071 3932071 single base substitution C T intron_variant ESAD-UK 20 3934118 3934118 single base substitution T C intron_variant ESAD-UK 20 3936545 3936545 single base substitution T A intron_variant ESAD-UK 20 3937838 3937838 single base substitution G A intron_variant ESAD-UK 20 3938161 3938161 single base substitution G A intron_variant ESAD-UK 20 3938320 3938320 single base substitution C T intron_variant ESAD-UK 20 3939558 3939558 single base substitution G T intron_variant ESAD-UK 20 3941091 3941091 single base substitution C T intron_variant ESAD-UK 20 3941381 3941381 single base substitution G C intron_variant ESAD-UK 20 3942485 3942485 single base substitution C T intron_variant ESAD-UK 20 3942846 3942846 deletion of <=200bp A - intron_variant ESAD-UK 20 3945712 3945712 single base substitution A G intron_variant ESAD-UK 20 3950781 3950781 single base substitution A G intron_variant ESAD-UK 20 3952401 3952401 single base substitution T A intron_variant ESAD-UK 20 3952843 3952843 single base substitution A G intron_variant ESAD-UK 20 3952900 3952900 single base substitution C T intron_variant ESAD-UK 20 3956073 3956073 insertion of <=200bp - T intron_variant ESAD-UK 20 3956073 3956073 insertion of <=200bp - T upstream_gene_variant ESAD-UK 20 3956816 3956816 single base substitution G A intron_variant ESAD-UK 20 3956816 3956816 single base substitution G A upstream_gene_variant ESAD-UK 20 3958848 3958848 single base substitution C A intron_variant ESAD-UK 20 3958848 3958848 single base substitution C A upstream_gene_variant ESAD-UK 20 3961601 3961601 insertion of <=200bp - TG intron_variant ESAD-UK 20 3964891 3964891 single base substitution A G intron_variant ESAD-UK 20 3969752 3969752 single base substitution T C intron_variant ESAD-UK 20 3970175 3970175 single base substitution G A intron_variant ESAD-UK 20 3971113 3971113 single base substitution C T intron_variant ESAD-UK 20 3972982 3972982 single base substitution T G intron_variant ESAD-UK 20 3975631 3975631 single base substitution T C intron_variant ESAD-UK 20 3979426 3979426 insertion of <=200bp - AT intron_variant ESAD-UK 20 3988022 3988022 single base substitution C T intron_variant ESAD-UK 20 3989655 3989655 single base substitution C G intron_variant ESAD-UK 20 3990047 3990047 single base substitution G C intron_variant ESAD-UK 20 3990486 3990486 insertion of <=200bp - G intron_variant ESAD-UK 20 3994305 3994305 insertion of <=200bp - T intron_variant ESAD-UK 20 3995859 3995859 single base substitution G C 5_prime_UTR_variant ESAD-UK 20 3995859 3995859 single base substitution G C intron_variant ESAD-UK 20 3999114 3999114 single base substitution C G upstream_gene_variant ESAD-UK 20 3999694 3999694 single base substitution T G upstream_gene_variant ESAD-UK 20 4000063 4000063 single base substitution G A upstream_gene_variant ESAD-UK 20 4000538 4000538 single base substitution C T upstream_gene_variant ESAD-UK 20 4000916 4000916 single base substitution G T upstream_gene_variant LAML-KR 20 3950437 3950437 single base substitution G T intron_variant LAML-KR 20 3996713 3996713 single base substitution G A upstream_gene_variant LICA-FR 20 3912812 3912812 single base substitution A T 3_prime_UTR_variant LICA-FR 20 3912812 3912812 single base substitution A T downstream_gene_variant LICA-FR 20 3913253 3913253 single base substitution A C 3_prime_UTR_variant LICA-FR 20 3913253 3913253 single base substitution A C downstream_gene_variant LICA-FR 20 3944710 3944710 single base substitution G A intron_variant LICA-FR 20 3948763 3948763 single base substitution T A intron_variant LICA-FR 20 3969943 3969943 single base substitution C T intron_variant LICA-FR 20 3973646 3973646 single base substitution T C intron_variant LICA-FR 20 3986299 3986299 single base substitution C T intron_variant LINC-JP 20 3921794 3921794 single base substitution G A intron_variant LINC-JP 20 3922727 3922727 single base substitution G A intron_variant LINC-JP 20 3923526 3923526 single base substitution C T intron_variant LINC-JP 20 3925728 3925728 single base substitution T G intron_variant LINC-JP 20 3939835 3939835 single base substitution T C intron_variant LINC-JP 20 3976959 3976959 single base substitution C A intron_variant LINC-JP 20 3977899 3977899 single base substitution G A intron_variant LINC-JP 20 3983190 3983190 single base substitution C T intron_variant LINC-JP 20 3992446 3992446 single base substitution C T intron_variant LIRI-JP 20 3905771 3905771 single base substitution T C downstream_gene_variant LIRI-JP 20 3906341 3906341 deletion of <=200bp G - downstream_gene_variant LIRI-JP 20 3907145 3907145 single base substitution G T downstream_gene_variant LIRI-JP 20 3907663 3907663 single base substitution G T downstream_gene_variant LIRI-JP 20 3908903 3908903 single base substitution T G 3_prime_UTR_variant LIRI-JP 20 3908903 3908903 single base substitution T G downstream_gene_variant LIRI-JP 20 3909335 3909335 single base substitution C T 3_prime_UTR_variant LIRI-JP 20 3909335 3909335 single base substitution C T downstream_gene_variant LIRI-JP 20 3923115 3923115 single base substitution C G intron_variant LIRI-JP 20 3923130 3923130 single base substitution T A intron_variant LIRI-JP 20 3925100 3925100 single base substitution G T intron_variant LIRI-JP 20 3926164 3926164 single base substitution C T intron_variant LIRI-JP 20 3926470 3926470 single base substitution T C intron_variant LIRI-JP 20 3932231 3932231 single base substitution T C intron_variant LIRI-JP 20 3932978 3932978 single base substitution T C intron_variant LIRI-JP 20 3935863 3935863 single base substitution T C intron_variant LIRI-JP 20 3939554 3939554 single base substitution G T intron_variant LIRI-JP 20 3941582 3941582 single base substitution A G intron_variant LIRI-JP 20 3945255 3945255 single base substitution A G intron_variant LIRI-JP 20 3949764 3949764 single base substitution G A intron_variant LIRI-JP 20 3951018 3951018 single base substitution A G intron_variant LIRI-JP 20 3958467 3958467 single base substitution C T intron_variant LIRI-JP 20 3958467 3958467 single base substitution C T upstream_gene_variant LIRI-JP 20 3961027 3961027 single base substitution C T intron_variant LIRI-JP 20 3961035 3961035 single base substitution G A intron_variant LIRI-JP 20 3962308 3962308 single base substitution A T intron_variant LIRI-JP 20 3962812 3962812 single base substitution A G intron_variant LIRI-JP 20 3964994 3964994 single base substitution G A intron_variant LIRI-JP 20 3965587 3965587 deletion of <=200bp A - intron_variant LIRI-JP 20 3968011 3968011 single base substitution C A intron_variant LIRI-JP 20 3969878 3969878 single base substitution C T intron_variant LIRI-JP 20 3969879 3969879 single base substitution C G intron_variant LIRI-JP 20 3969908 3969908 single base substitution G T intron_variant LIRI-JP 20 3970485 3970485 single base substitution T A intron_variant LIRI-JP 20 3976744 3976744 single base substitution T G intron_variant LIRI-JP 20 3979690 3979690 single base substitution G A intron_variant LIRI-JP 20 3982438 3982438 single base substitution A G intron_variant LIRI-JP 20 3987519 3987519 single base substitution A G intron_variant LIRI-JP 20 3988323 3988323 single base substitution A G intron_variant LIRI-JP 20 3990084 3990084 single base substitution T C intron_variant LIRI-JP 20 3990647 3990647 single base substitution G A intron_variant LIRI-JP 20 3992446 3992446 single base substitution C T intron_variant LIRI-JP 20 3994826 3994826 single base substitution A G intron_variant LIRI-JP 20 3994836 3994836 single base substitution A G intron_variant LIRI-JP 20 3999702 3999702 single base substitution T A upstream_gene_variant LIRI-JP 20 4000272 4000272 single base substitution A T upstream_gene_variant LIRI-JP 20 4000969 4000969 single base substitution T C upstream_gene_variant LUSC-KR 20 3912359 3912359 single base substitution C T 3_prime_UTR_variant LUSC-KR 20 3912359 3912359 single base substitution C T downstream_gene_variant LUSC-KR 20 3912403 3912403 single base substitution C T 3_prime_UTR_variant LUSC-KR 20 3912403 3912403 single base substitution C T downstream_gene_variant LUSC-KR 20 3912426 3912426 single base substitution G A 3_prime_UTR_variant LUSC-KR 20 3912426 3912426 single base substitution G A downstream_gene_variant LUSC-KR 20 3913123 3913123 single base substitution G T 3_prime_UTR_variant LUSC-KR 20 3913123 3913123 single base substitution G T downstream_gene_variant LUSC-KR 20 3918064 3918064 single base substitution C T intron_variant LUSC-KR 20 3921807 3921807 single base substitution C G intron_variant LUSC-KR 20 3922476 3922476 single base substitution C T intron_variant LUSC-KR 20 3923682 3923682 single base substitution T G intron_variant LUSC-KR 20 3928635 3928635 single base substitution G T intron_variant LUSC-KR 20 3929681 3929681 single base substitution T C intron_variant LUSC-KR 20 3931903 3931903 single base substitution C T intron_variant LUSC-KR 20 3940805 3940805 single base substitution G T intron_variant LUSC-KR 20 3941900 3941900 single base substitution T A intron_variant LUSC-KR 20 3941901 3941901 single base substitution T A intron_variant LUSC-KR 20 3942887 3942887 single base substitution C G intron_variant LUSC-KR 20 3970044 3970044 single base substitution A T intron_variant LUSC-KR 20 3973152 3973152 single base substitution T A intron_variant LUSC-KR 20 3973153 3973153 single base substitution A G intron_variant LUSC-KR 20 3984583 3984583 single base substitution C G intron_variant LUSC-KR 20 3997757 3997757 single base substitution G A upstream_gene_variant LUSC-KR 20 3997783 3997783 single base substitution G C upstream_gene_variant LUSC-KR 20 3997788 3997788 single base substitution G C upstream_gene_variant MALY-DE 20 3908744 3908744 single base substitution C T 3_prime_UTR_variant MALY-DE 20 3908744 3908744 single base substitution C T downstream_gene_variant MALY-DE 20 3910491 3910491 single base substitution A C 3_prime_UTR_variant MALY-DE 20 3910491 3910491 single base substitution A C downstream_gene_variant MALY-DE 20 3920332 3920332 deletion of <=200bp T - intron_variant MALY-DE 20 3925005 3925005 single base substitution T C intron_variant MALY-DE 20 3928681 3928681 single base substitution G A intron_variant MALY-DE 20 3932655 3932655 single base substitution G A intron_variant MALY-DE 20 3938134 3938134 single base substitution A C intron_variant MALY-DE 20 3940880 3940880 single base substitution G T intron_variant MALY-DE 20 3941342 3941342 single base substitution A G intron_variant MALY-DE 20 3947965 3947965 single base substitution G C intron_variant MALY-DE 20 3948764 3948764 single base substitution A T intron_variant MALY-DE 20 3959276 3959276 single base substitution G C intron_variant MALY-DE 20 3959276 3959276 single base substitution G C upstream_gene_variant MALY-DE 20 3961714 3961714 single base substitution T A intron_variant MALY-DE 20 3961762 3961762 single base substitution T C intron_variant MALY-DE 20 3965648 3965648 single base substitution T C intron_variant MALY-DE 20 3965663 3965663 single base substitution T C intron_variant MALY-DE 20 3968048 3968048 single base substitution G T intron_variant MALY-DE 20 3968747 3968747 single base substitution A C intron_variant MALY-DE 20 3970507 3970507 single base substitution A G intron_variant MALY-DE 20 3970860 3970860 single base substitution G A intron_variant MALY-DE 20 3970965 3970965 single base substitution T A intron_variant MALY-DE 20 3974905 3974905 insertion of <=200bp - A intron_variant MALY-DE 20 3981180 3981180 single base substitution A T intron_variant MALY-DE 20 3984022 3984022 single base substitution C G intron_variant MALY-DE 20 3987108 3987108 single base substitution A G intron_variant MALY-DE 20 4001128 4001128 single base substitution G A upstream_gene_variant MELA-AU 20 3903187 3903187 single base substitution C T downstream_gene_variant MELA-AU 20 3903449 3903449 single base substitution C T downstream_gene_variant MELA-AU 20 3903496 3903496 single base substitution C T downstream_gene_variant MELA-AU 20 3903513 3903513 single base substitution C T downstream_gene_variant MELA-AU 20 3903793 3903793 single base substitution T G downstream_gene_variant MELA-AU 20 3905168 3905168 single base substitution G A downstream_gene_variant MELA-AU 20 3905453 3905453 single base substitution T C downstream_gene_variant MELA-AU 20 3905542 3905542 single base substitution C T downstream_gene_variant MELA-AU 20 3905543 3905543 single base substitution C T downstream_gene_variant MELA-AU 20 3905809 3905809 single base substitution C T downstream_gene_variant MELA-AU 20 3906537 3906537 single base substitution G T downstream_gene_variant MELA-AU 20 3906565 3906565 single base substitution T C downstream_gene_variant MELA-AU 20 3906619 3906619 single base substitution A G downstream_gene_variant MELA-AU 20 3907031 3907031 single base substitution G A downstream_gene_variant MELA-AU 20 3907429 3907429 single base substitution A T downstream_gene_variant MELA-AU 20 3907963 3907963 single base substitution C T 3_prime_UTR_variant MELA-AU 20 3907963 3907963 single base substitution C T downstream_gene_variant MELA-AU 20 3908119 3908119 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3908119 3908119 single base substitution G A downstream_gene_variant MELA-AU 20 3908698 3908698 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3908698 3908698 single base substitution G A downstream_gene_variant MELA-AU 20 3909845 3909845 single base substitution C T 3_prime_UTR_variant MELA-AU 20 3909845 3909845 single base substitution C T downstream_gene_variant MELA-AU 20 3910651 3910651 single base substitution C T 3_prime_UTR_variant MELA-AU 20 3910651 3910651 single base substitution C T downstream_gene_variant MELA-AU 20 3910715 3910715 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3910715 3910715 single base substitution G A downstream_gene_variant MELA-AU 20 3911805 3911805 deletion of <=200bp G - 3_prime_UTR_variant MELA-AU 20 3911805 3911805 deletion of <=200bp G - downstream_gene_variant MELA-AU 20 3911809 3911809 single base substitution C A 3_prime_UTR_variant MELA-AU 20 3911809 3911809 single base substitution C A downstream_gene_variant MELA-AU 20 3912599 3912599 single base substitution C T 3_prime_UTR_variant MELA-AU 20 3912599 3912599 single base substitution C T downstream_gene_variant MELA-AU 20 3913061 3913062 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 20 3913061 3913062 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 3913214 3913214 single base substitution G A 3_prime_UTR_variant MELA-AU 20 3913214 3913214 single base substitution G A downstream_gene_variant MELA-AU 20 3913780 3913780 single base substitution G T 3_prime_UTR_variant MELA-AU 20 3913780 3913780 single base substitution G T downstream_gene_variant MELA-AU 20 3913809 3913809 single base substitution C T 3_prime_UTR_variant MELA-AU 20 3913809 3913809 single base substitution C T downstream_gene_variant MELA-AU 20 3915092 3915092 single base substitution G A intron_variant MELA-AU 20 3915575 3915575 single base substitution C T intron_variant MELA-AU 20 3915653 3915653 single base substitution G A missense_variant A120V 359C>T MELA-AU 20 3915653 3915653 single base substitution G A missense_variant A99V 296C>T MELA-AU 20 3915813 3915813 single base substitution G A intron_variant MELA-AU 20 3917900 3917901 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 3918573 3918573 single base substitution A G intron_variant MELA-AU 20 3918623 3918623 single base substitution G A intron_variant MELA-AU 20 3919143 3919143 single base substitution G A intron_variant MELA-AU 20 3919782 3919782 single base substitution G A intron_variant MELA-AU 20 3920603 3920603 single base substitution G A intron_variant MELA-AU 20 3920819 3920819 single base substitution G A intron_variant MELA-AU 20 3920909 3920909 single base substitution G A intron_variant MELA-AU 20 3921049 3921049 single base substitution G A intron_variant MELA-AU 20 3921862 3921862 single base substitution G A intron_variant MELA-AU 20 3922219 3922219 single base substitution G A intron_variant MELA-AU 20 3922304 3922304 single base substitution G A intron_variant MELA-AU 20 3922979 3922979 single base substitution T G intron_variant MELA-AU 20 3923442 3923442 single base substitution G A intron_variant MELA-AU 20 3924840 3924840 single base substitution G A intron_variant MELA-AU 20 3925034 3925034 single base substitution G A intron_variant MELA-AU 20 3925184 3925184 single base substitution G A intron_variant MELA-AU 20 3925564 3925564 single base substitution A G intron_variant MELA-AU 20 3926154 3926154 single base substitution G A intron_variant MELA-AU 20 3927490 3927490 single base substitution G A intron_variant MELA-AU 20 3928474 3928474 single base substitution A G intron_variant MELA-AU 20 3929152 3929152 single base substitution C T intron_variant MELA-AU 20 3929214 3929214 single base substitution T C intron_variant MELA-AU 20 3929764 3929764 single base substitution C G intron_variant MELA-AU 20 3929802 3929802 single base substitution G A intron_variant MELA-AU 20 3930056 3930056 single base substitution G A intron_variant MELA-AU 20 3930401 3930401 single base substitution C T intron_variant MELA-AU 20 3931089 3931089 single base substitution G A intron_variant MELA-AU 20 3931243 3931243 single base substitution C A intron_variant MELA-AU 20 3931505 3931505 single base substitution G A intron_variant MELA-AU 20 3931511 3931511 single base substitution T C intron_variant MELA-AU 20 3932454 3932454 single base substitution C T intron_variant MELA-AU 20 3933715 3933715 single base substitution G A intron_variant MELA-AU 20 3933785 3933785 single base substitution A T intron_variant MELA-AU 20 3934008 3934008 single base substitution G A intron_variant MELA-AU 20 3934322 3934322 single base substitution G A intron_variant MELA-AU 20 3934331 3934331 single base substitution G A intron_variant MELA-AU 20 3934575 3934575 insertion of <=200bp - TATATTA intron_variant MELA-AU 20 3934899 3934899 single base substitution T A intron_variant MELA-AU 20 3936332 3936332 single base substitution G A intron_variant MELA-AU 20 3936397 3936397 single base substitution A G intron_variant MELA-AU 20 3936742 3936742 single base substitution C T intron_variant MELA-AU 20 3937460 3937460 single base substitution A C intron_variant MELA-AU 20 3937838 3937838 single base substitution G A intron_variant MELA-AU 20 3938126 3938126 single base substitution A T intron_variant MELA-AU 20 3939308 3939308 single base substitution G A intron_variant MELA-AU 20 3939558 3939558 single base substitution G A intron_variant MELA-AU 20 3939559 3939559 single base substitution G A intron_variant MELA-AU 20 3939843 3939843 single base substitution G A intron_variant MELA-AU 20 3940465 3940465 single base substitution G A intron_variant MELA-AU 20 3940572 3940572 single base substitution G A intron_variant MELA-AU 20 3940943 3940943 single base substitution A G intron_variant MELA-AU 20 3941344 3941344 single base substitution C A intron_variant MELA-AU 20 3941458 3941458 single base substitution A C intron_variant MELA-AU 20 3941458 3941458 single base substitution A G intron_variant MELA-AU 20 3942299 3942299 single base substitution T C intron_variant MELA-AU 20 3944649 3944649 single base substitution G A missense_variant P27S 79C>T MELA-AU 20 3944649 3944649 single base substitution G A missense_variant P6S 16C>T MELA-AU 20 3946042 3946042 single base substitution C T intron_variant MELA-AU 20 3946256 3946256 single base substitution G A intron_variant MELA-AU 20 3946405 3946405 single base substitution A G intron_variant MELA-AU 20 3946494 3946494 single base substitution G A intron_variant MELA-AU 20 3946540 3946541 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 20 3946622 3946622 single base substitution G A intron_variant MELA-AU 20 3947301 3947301 single base substitution G A intron_variant MELA-AU 20 3947422 3947422 single base substitution C T intron_variant MELA-AU 20 3947507 3947507 single base substitution G A intron_variant MELA-AU 20 3949532 3949532 single base substitution G A intron_variant MELA-AU 20 3949665 3949665 single base substitution G C intron_variant MELA-AU 20 3949749 3949749 single base substitution C T intron_variant MELA-AU 20 3950068 3950068 single base substitution G A intron_variant MELA-AU 20 3950365 3950365 single base substitution C T intron_variant MELA-AU 20 3950407 3950407 single base substitution G A intron_variant MELA-AU 20 3950925 3950925 single base substitution G A intron_variant MELA-AU 20 3951490 3951490 single base substitution C T intron_variant MELA-AU 20 3952444 3952444 single base substitution A G intron_variant MELA-AU 20 3952936 3952936 single base substitution G A intron_variant MELA-AU 20 3953330 3953330 single base substitution C T intron_variant MELA-AU 20 3953634 3953634 single base substitution G A intron_variant MELA-AU 20 3953744 3953744 single base substitution G A intron_variant MELA-AU 20 3954243 3954243 single base substitution G A intron_variant MELA-AU 20 3955094 3955094 single base substitution C T intron_variant MELA-AU 20 3955094 3955094 single base substitution C T upstream_gene_variant MELA-AU 20 3955101 3955101 single base substitution G A intron_variant MELA-AU 20 3955101 3955101 single base substitution G A upstream_gene_variant MELA-AU 20 3956052 3956052 single base substitution G A intron_variant MELA-AU 20 3956052 3956052 single base substitution G A upstream_gene_variant MELA-AU 20 3956067 3956067 single base substitution G A intron_variant MELA-AU 20 3956067 3956067 single base substitution G A upstream_gene_variant MELA-AU 20 3956877 3956877 single base substitution C A intron_variant MELA-AU 20 3956877 3956877 single base substitution C A upstream_gene_variant MELA-AU 20 3957906 3957906 single base substitution G A intron_variant MELA-AU 20 3957906 3957906 single base substitution G A upstream_gene_variant MELA-AU 20 3958053 3958053 single base substitution A G intron_variant MELA-AU 20 3958053 3958053 single base substitution A G upstream_gene_variant MELA-AU 20 3958176 3958176 single base substitution G A intron_variant MELA-AU 20 3958176 3958176 single base substitution G A upstream_gene_variant MELA-AU 20 3958212 3958212 single base substitution C T intron_variant MELA-AU 20 3958212 3958212 single base substitution C T upstream_gene_variant MELA-AU 20 3959840 3959840 single base substitution G A intron_variant MELA-AU 20 3959840 3959840 single base substitution G A upstream_gene_variant MELA-AU 20 3959926 3959926 single base substitution C T intron_variant MELA-AU 20 3959926 3959926 single base substitution C T upstream_gene_variant MELA-AU 20 3960050 3960050 single base substitution G A intron_variant MELA-AU 20 3960614 3960614 single base substitution G A intron_variant MELA-AU 20 3961772 3961772 single base substitution G A intron_variant MELA-AU 20 3962044 3962044 single base substitution G A intron_variant MELA-AU 20 3962668 3962668 single base substitution G A intron_variant MELA-AU 20 3962691 3962692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 3963949 3963949 single base substitution G A intron_variant MELA-AU 20 3964261 3964261 single base substitution C T intron_variant MELA-AU 20 3964995 3964995 single base substitution G A intron_variant MELA-AU 20 3965267 3965267 single base substitution G A intron_variant MELA-AU 20 3965717 3965718 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 20 3967033 3967033 single base substitution G A intron_variant MELA-AU 20 3967174 3967174 single base substitution G A intron_variant MELA-AU 20 3967658 3967658 single base substitution G A intron_variant MELA-AU 20 3967929 3967929 single base substitution A T intron_variant MELA-AU 20 3968572 3968572 single base substitution G A intron_variant MELA-AU 20 3968654 3968654 single base substitution A G intron_variant MELA-AU 20 3969411 3969411 single base substitution G A intron_variant MELA-AU 20 3969412 3969412 single base substitution A G intron_variant MELA-AU 20 3969878 3969879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 3970089 3970089 single base substitution G A intron_variant MELA-AU 20 3970788 3970789 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 3970898 3970898 single base substitution A C intron_variant MELA-AU 20 3971455 3971455 single base substitution C T intron_variant MELA-AU 20 3971745 3971745 single base substitution G A intron_variant MELA-AU 20 3973206 3973206 single base substitution C T intron_variant MELA-AU 20 3973336 3973336 single base substitution A T intron_variant MELA-AU 20 3974202 3974202 single base substitution G T intron_variant MELA-AU 20 3974242 3974242 single base substitution G A intron_variant MELA-AU 20 3975031 3975031 single base substitution A G intron_variant MELA-AU 20 3975226 3975226 single base substitution C T intron_variant MELA-AU 20 3975480 3975480 single base substitution C T intron_variant MELA-AU 20 3975601 3975601 single base substitution G A intron_variant MELA-AU 20 3977644 3977644 single base substitution G A intron_variant MELA-AU 20 3978193 3978193 single base substitution C T intron_variant MELA-AU 20 3978847 3978847 single base substitution G A intron_variant MELA-AU 20 3978995 3978995 single base substitution G A intron_variant MELA-AU 20 3979209 3979209 single base substitution G A intron_variant MELA-AU 20 3979211 3979211 single base substitution G C intron_variant MELA-AU 20 3979558 3979558 single base substitution C A intron_variant MELA-AU 20 3980400 3980400 single base substitution C T intron_variant MELA-AU 20 3980556 3980556 single base substitution G A intron_variant MELA-AU 20 3980990 3980990 single base substitution G A intron_variant MELA-AU 20 3981234 3981234 single base substitution A G intron_variant MELA-AU 20 3981595 3981595 single base substitution G A intron_variant MELA-AU 20 3981971 3981971 single base substitution G A intron_variant MELA-AU 20 3982194 3982194 single base substitution G A intron_variant MELA-AU 20 3982948 3982948 single base substitution G A intron_variant MELA-AU 20 3983209 3983209 single base substitution G A intron_variant MELA-AU 20 3983630 3983630 single base substitution C T intron_variant MELA-AU 20 3984183 3984183 single base substitution G A intron_variant MELA-AU 20 3984481 3984481 single base substitution G A intron_variant MELA-AU 20 3984678 3984678 single base substitution G A intron_variant MELA-AU 20 3984719 3984719 single base substitution C T intron_variant MELA-AU 20 3984764 3984764 single base substitution G A intron_variant MELA-AU 20 3984875 3984875 single base substitution A G intron_variant MELA-AU 20 3985335 3985335 single base substitution G A intron_variant MELA-AU 20 3988647 3988647 single base substitution T C intron_variant MELA-AU 20 3989079 3989079 single base substitution A G intron_variant MELA-AU 20 3989099 3989099 single base substitution A T intron_variant MELA-AU 20 3989134 3989134 single base substitution A T intron_variant MELA-AU 20 3989427 3989427 single base substitution C T intron_variant MELA-AU 20 3989734 3989734 single base substitution G A intron_variant MELA-AU 20 3989984 3989984 single base substitution C T intron_variant MELA-AU 20 3990289 3990289 single base substitution G A intron_variant MELA-AU 20 3990382 3990382 single base substitution G A intron_variant MELA-AU 20 3990411 3990411 single base substitution T A intron_variant MELA-AU 20 3990487 3990487 single base substitution G A intron_variant MELA-AU 20 3990554 3990554 single base substitution C T intron_variant MELA-AU 20 3990606 3990606 single base substitution G A intron_variant MELA-AU 20 3990674 3990674 single base substitution G A intron_variant MELA-AU 20 3990804 3990804 single base substitution G A intron_variant MELA-AU 20 3990914 3990914 single base substitution G A intron_variant MELA-AU 20 3991539 3991540 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 20 3991609 3991609 single base substitution A T intron_variant MELA-AU 20 3992670 3992670 single base substitution T A intron_variant MELA-AU 20 3992701 3992701 single base substitution G A intron_variant MELA-AU 20 3993991 3993991 single base substitution G A intron_variant MELA-AU 20 3994125 3994125 single base substitution A C intron_variant MELA-AU 20 3994967 3994967 single base substitution G A intron_variant MELA-AU 20 3996917 3996917 single base substitution G T upstream_gene_variant MELA-AU 20 3997239 3997239 single base substitution C T upstream_gene_variant MELA-AU 20 3997417 3997417 single base substitution C T upstream_gene_variant MELA-AU 20 3997481 3997481 single base substitution C T upstream_gene_variant MELA-AU 20 3997586 3997586 single base substitution G A upstream_gene_variant MELA-AU 20 3998205 3998205 single base substitution T G upstream_gene_variant MELA-AU 20 3998418 3998418 single base substitution C T upstream_gene_variant MELA-AU 20 3998691 3998691 single base substitution C T upstream_gene_variant MELA-AU 20 3998934 3998934 single base substitution C T upstream_gene_variant MELA-AU 20 3999181 3999181 single base substitution G A upstream_gene_variant MELA-AU 20 3999281 3999281 single base substitution G A upstream_gene_variant MELA-AU 20 3999331 3999331 single base substitution C T upstream_gene_variant MELA-AU 20 3999351 3999351 single base substitution C T upstream_gene_variant MELA-AU 20 3999738 3999738 single base substitution C T upstream_gene_variant MELA-AU 20 3999766 3999766 single base substitution A C upstream_gene_variant MELA-AU 20 3999900 3999900 single base substitution C T upstream_gene_variant MELA-AU 20 4000134 4000134 single base substitution C T upstream_gene_variant MELA-AU 20 4000552 4000552 single base substitution C T upstream_gene_variant MELA-AU 20 4000791 4000791 single base substitution G A upstream_gene_variant MELA-AU 20 4000857 4000857 single base substitution G A upstream_gene_variant MELA-AU 20 4000864 4000864 single base substitution C T upstream_gene_variant MELA-AU 20 4001081 4001082 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant ORCA-IN 20 3910878 3910878 single base substitution C G 3_prime_UTR_variant ORCA-IN 20 3910878 3910878 single base substitution C G downstream_gene_variant ORCA-IN 20 3935548 3935548 deletion of <=200bp G - intron_variant ORCA-IN 20 3936672 3936672 deletion of <=200bp G - intron_variant ORCA-IN 20 3947116 3947116 insertion of <=200bp - GTGTGTGTGTGT intron_variant ORCA-IN 20 3963361 3963361 single base substitution C T intron_variant ORCA-IN 20 3985821 3985821 single base substitution A T intron_variant OV-AU 20 3905256 3905256 single base substitution G C downstream_gene_variant OV-AU 20 3906994 3906994 single base substitution G C downstream_gene_variant OV-AU 20 3912220 3912220 single base substitution C T 3_prime_UTR_variant OV-AU 20 3912220 3912220 single base substitution C T downstream_gene_variant OV-AU 20 3924578 3924578 single base substitution C T intron_variant OV-AU 20 3924801 3924801 single base substitution G A intron_variant OV-AU 20 3931701 3931701 single base substitution C G intron_variant OV-AU 20 3939256 3939256 single base substitution C T intron_variant OV-AU 20 3945789 3945789 single base substitution G T intron_variant OV-AU 20 3946804 3946804 single base substitution A G intron_variant OV-AU 20 3947399 3947399 single base substitution T C intron_variant OV-AU 20 3948508 3948508 single base substitution C T intron_variant OV-AU 20 3956101 3956101 single base substitution G A intron_variant OV-AU 20 3956101 3956101 single base substitution G A upstream_gene_variant OV-AU 20 3958584 3958584 single base substitution G A intron_variant OV-AU 20 3958584 3958584 single base substitution G A upstream_gene_variant OV-AU 20 3958844 3958844 single base substitution C G intron_variant OV-AU 20 3958844 3958844 single base substitution C G upstream_gene_variant OV-AU 20 3959876 3959876 single base substitution T C intron_variant OV-AU 20 3959876 3959876 single base substitution T C upstream_gene_variant OV-AU 20 3960640 3960640 single base substitution T C intron_variant OV-AU 20 3972007 3972007 single base substitution T C intron_variant OV-AU 20 3972311 3972311 single base substitution G C intron_variant OV-AU 20 3974144 3974144 single base substitution G C intron_variant OV-AU 20 3974735 3974735 single base substitution G C intron_variant OV-AU 20 3983044 3983044 single base substitution A T intron_variant OV-AU 20 3989100 3989100 single base substitution A T intron_variant OV-AU 20 3990034 3990034 single base substitution G A intron_variant OV-AU 20 3990178 3990178 single base substitution A G intron_variant OV-AU 20 3991575 3991575 single base substitution A T intron_variant OV-AU 20 3992666 3992666 single base substitution G C intron_variant OV-AU 20 3995304 3995304 single base substitution T A intron_variant OV-AU 20 3996243 3996243 single base substitution G A upstream_gene_variant OV-AU 20 3998417 3998417 single base substitution A G upstream_gene_variant OV-AU 20 4000536 4000536 single base substitution C T upstream_gene_variant PACA-AU 20 3906702 3906702 single base substitution A T downstream_gene_variant PACA-AU 20 3906824 3906824 single base substitution G A downstream_gene_variant PACA-AU 20 3912053 3912053 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 20 3912053 3912053 deletion of <=200bp A - downstream_gene_variant PACA-AU 20 3912949 3912949 deletion of <=200bp T - 3_prime_UTR_variant PACA-AU 20 3912949 3912949 deletion of <=200bp T - downstream_gene_variant PACA-AU 20 3916381 3916381 single base substitution T C intron_variant PACA-AU 20 3920175 3920175 single base substitution A G intron_variant PACA-AU 20 3921344 3921344 single base substitution C T intron_variant PACA-AU 20 3923949 3923949 single base substitution T G intron_variant PACA-AU 20 3930757 3930757 single base substitution G T intron_variant PACA-AU 20 3931461 3931505 deletion of <=200bp GATATAACATTGATATATTATTAACTAAACTACAGACCTTATTTG - intron_variant PACA-AU 20 3945341 3945341 single base substitution T A intron_variant PACA-AU 20 3945583 3945583 single base substitution A G intron_variant PACA-AU 20 3947465 3947465 single base substitution A C intron_variant PACA-AU 20 3961354 3961354 single base substitution T C intron_variant PACA-AU 20 3967660 3967660 single base substitution T C intron_variant PACA-AU 20 3967751 3967751 single base substitution A G intron_variant PACA-AU 20 3969962 3969962 deletion of <=200bp C - intron_variant PACA-AU 20 3988400 3988400 single base substitution A G intron_variant PACA-AU 20 3996189 3996189 single base substitution T G 5_prime_UTR_variant PACA-AU 20 3996189 3996189 single base substitution T G upstream_gene_variant PACA-CA 20 3906521 3906521 single base substitution G A downstream_gene_variant PACA-CA 20 3914878 3914878 single base substitution T C intron_variant PACA-CA 20 3915478 3915478 insertion of <=200bp - CA intron_variant PACA-CA 20 3919100 3919100 single base substitution A G intron_variant PACA-CA 20 3920382 3920382 single base substitution T C intron_variant PACA-CA 20 3920613 3920613 single base substitution T A intron_variant PACA-CA 20 3924918 3924918 single base substitution T C intron_variant PACA-CA 20 3933822 3933822 single base substitution C T intron_variant PACA-CA 20 3936261 3936261 single base substitution C T intron_variant PACA-CA 20 3937180 3937180 single base substitution A C intron_variant PACA-CA 20 3937256 3937256 single base substitution G A intron_variant PACA-CA 20 3942517 3942517 single base substitution C T intron_variant PACA-CA 20 3942546 3942546 single base substitution G A intron_variant PACA-CA 20 3948639 3948639 single base substitution A G intron_variant PACA-CA 20 3953411 3953411 single base substitution G A intron_variant PACA-CA 20 3955261 3955261 single base substitution G A intron_variant PACA-CA 20 3955261 3955261 single base substitution G A upstream_gene_variant PACA-CA 20 3955618 3955618 single base substitution G C intron_variant PACA-CA 20 3955618 3955618 single base substitution G C upstream_gene_variant PACA-CA 20 3958175 3958175 single base substitution C T intron_variant PACA-CA 20 3958175 3958175 single base substitution C T upstream_gene_variant PACA-CA 20 3959697 3959697 single base substitution C T intron_variant PACA-CA 20 3959697 3959697 single base substitution C T upstream_gene_variant PACA-CA 20 3960911 3960911 single base substitution C A intron_variant PACA-CA 20 3962172 3962172 single base substitution G T intron_variant PACA-CA 20 3964248 3964248 single base substitution C T intron_variant PACA-CA 20 3965769 3965769 single base substitution C T intron_variant PACA-CA 20 3970606 3970606 single base substitution C G intron_variant PACA-CA 20 3976546 3976546 single base substitution A C intron_variant PACA-CA 20 3979978 3979978 single base substitution G C intron_variant PACA-CA 20 3980244 3980244 single base substitution A C intron_variant PACA-CA 20 3986179 3986179 single base substitution C T intron_variant PACA-CA 20 3986539 3986539 single base substitution T C intron_variant PACA-CA 20 3986695 3986695 single base substitution G C intron_variant PACA-CA 20 3988823 3988825 deletion of <=200bp TAT - intron_variant PACA-CA 20 3993943 3993943 single base substitution G A intron_variant PACA-CA 20 3994370 3994370 single base substitution G A intron_variant PACA-CA 20 3997238 3997238 single base substitution C G upstream_gene_variant PACA-CA 20 3998607 3998607 single base substitution G T upstream_gene_variant PAEN-AU 20 3923618 3923618 single base substitution G C intron_variant PAEN-AU 20 3931375 3931375 single base substitution C T intron_variant PAEN-AU 20 3940158 3940158 single base substitution T C intron_variant PAEN-AU 20 3954853 3954853 single base substitution G T intron_variant PAEN-AU 20 3962345 3962345 single base substitution A T intron_variant PAEN-IT 20 3912145 3912145 single base substitution A G 3_prime_UTR_variant PAEN-IT 20 3912145 3912145 single base substitution A G downstream_gene_variant PAEN-IT 20 3944342 3944342 single base substitution T C intron_variant PAEN-IT 20 3961116 3961116 single base substitution G C intron_variant PAEN-IT 20 3971841 3971841 single base substitution T C intron_variant PAEN-IT 20 3979181 3979181 single base substitution C T intron_variant PAEN-IT 20 3997080 3997080 single base substitution C A upstream_gene_variant PBCA-DE 20 3912247 3912247 single base substitution G C 3_prime_UTR_variant PBCA-DE 20 3912247 3912247 single base substitution G C downstream_gene_variant PBCA-DE 20 3955527 3955527 deletion of <=200bp T - intron_variant PBCA-DE 20 3955527 3955527 deletion of <=200bp T - upstream_gene_variant PBCA-DE 20 3959790 3959790 single base substitution G T intron_variant PBCA-DE 20 3959790 3959790 single base substitution G T upstream_gene_variant PBCA-DE 20 3966517 3966517 single base substitution C A intron_variant PBCA-DE 20 3968670 3968670 single base substitution A T intron_variant PBCA-DE 20 3972588 3972589 deletion of <=200bp CA - intron_variant PBCA-DE 20 3975370 3975370 single base substitution C T intron_variant PBCA-DE 20 3986922 3986923 deletion of <=200bp AG - intron_variant PBCA-DE 20 3995056 3995056 single base substitution G A intron_variant PRAD-CA 20 3909318 3909318 single base substitution C T 3_prime_UTR_variant PRAD-CA 20 3909318 3909318 single base substitution C T downstream_gene_variant PRAD-CA 20 3916095 3916095 single base substitution G A intron_variant PRAD-CA 20 3923948 3923948 single base substitution A G intron_variant PRAD-CA 20 3923948 3923948 single base substitution A T intron_variant PRAD-CA 20 3977593 3977593 single base substitution C T intron_variant PRAD-CA 20 3983675 3983675 single base substitution G A intron_variant PRAD-UK 20 3917038 3917038 single base substitution C A intron_variant PRAD-UK 20 3926931 3926931 single base substitution T C intron_variant PRAD-UK 20 3941095 3941095 single base substitution T C intron_variant PRAD-UK 20 3955205 3955205 single base substitution T C intron_variant PRAD-UK 20 3955205 3955205 single base substitution T C upstream_gene_variant PRAD-UK 20 3960903 3960906 deletion of <=200bp TAAG - intron_variant PRAD-UK 20 3970411 3970411 single base substitution T C intron_variant PRAD-UK 20 3993547 3993547 single base substitution G C intron_variant PRAD-UK 20 3994705 3994705 single base substitution A C intron_variant PRAD-UK 20 3995505 3995505 single base substitution G C intron_variant RECA-EU 20 3911617 3911617 single base substitution C T 3_prime_UTR_variant RECA-EU 20 3911617 3911617 single base substitution C T downstream_gene_variant RECA-EU 20 3925997 3925997 single base substitution C G intron_variant RECA-EU 20 3930768 3930768 single base substitution A T intron_variant RECA-EU 20 3932304 3932304 single base substitution T C intron_variant RECA-EU 20 3934422 3934422 single base substitution G T intron_variant RECA-EU 20 3944155 3944155 single base substitution A C intron_variant RECA-EU 20 3954643 3954643 single base substitution T C intron_variant RECA-EU 20 3955177 3955177 single base substitution C T intron_variant RECA-EU 20 3955177 3955177 single base substitution C T upstream_gene_variant RECA-EU 20 3975356 3975356 single base substitution A G intron_variant RECA-EU 20 3980550 3980550 single base substitution A G intron_variant RECA-EU 20 3983054 3983054 single base substitution A C intron_variant RECA-EU 20 3992829 3992829 single base substitution G T intron_variant RECA-EU 20 3994754 3994754 single base substitution C A intron_variant RECA-EU 20 3998825 3998825 single base substitution T C upstream_gene_variant SKCA-BR 20 3905941 3905941 single base substitution G T downstream_gene_variant SKCA-BR 20 3906876 3906876 single base substitution C G downstream_gene_variant SKCA-BR 20 3907049 3907049 single base substitution C T downstream_gene_variant SKCA-BR 20 3912730 3912730 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 3912730 3912730 single base substitution C T downstream_gene_variant SKCA-BR 20 3913710 3913712 deletion of <=200bp CTT - 3_prime_UTR_variant SKCA-BR 20 3913710 3913712 deletion of <=200bp CTT - downstream_gene_variant SKCA-BR 20 3916592 3916592 single base substitution T C intron_variant SKCA-BR 20 3928214 3928214 single base substitution G A intron_variant SKCA-BR 20 3928562 3928562 single base substitution G A intron_variant SKCA-BR 20 3929448 3929448 single base substitution G A intron_variant SKCA-BR 20 3929541 3929541 single base substitution G C intron_variant SKCA-BR 20 3929646 3929646 single base substitution G C intron_variant SKCA-BR 20 3930320 3930320 single base substitution G C intron_variant SKCA-BR 20 3930380 3930380 single base substitution G C intron_variant SKCA-BR 20 3930587 3930587 single base substitution G C intron_variant SKCA-BR 20 3930625 3930625 insertion of <=200bp - AGGGGTCCAGAC intron_variant SKCA-BR 20 3933229 3933229 single base substitution G T intron_variant SKCA-BR 20 3933944 3933944 single base substitution A C intron_variant SKCA-BR 20 3937714 3937714 single base substitution T G intron_variant SKCA-BR 20 3937717 3937717 single base substitution A G intron_variant SKCA-BR 20 3937821 3937821 single base substitution T C intron_variant SKCA-BR 20 3942843 3942843 single base substitution T A intron_variant SKCA-BR 20 3942854 3942854 single base substitution T A intron_variant SKCA-BR 20 3943691 3943691 single base substitution G A intron_variant SKCA-BR 20 3945269 3945269 single base substitution A T intron_variant SKCA-BR 20 3945271 3945271 single base substitution G A intron_variant SKCA-BR 20 3950011 3950011 single base substitution G A intron_variant SKCA-BR 20 3950153 3950153 insertion of <=200bp - CA intron_variant SKCA-BR 20 3954710 3954710 insertion of <=200bp - TA intron_variant SKCA-BR 20 3964883 3964893 deletion of <=200bp TAAAAAAAAAA - intron_variant SKCA-BR 20 3968572 3968572 single base substitution G A intron_variant SKCA-BR 20 3969343 3969343 single base substitution G A intron_variant SKCA-BR 20 3969344 3969344 single base substitution G A intron_variant SKCA-BR 20 3970930 3970930 single base substitution G A intron_variant SKCA-BR 20 3971200 3971200 single base substitution A T intron_variant SKCA-BR 20 3977586 3977586 single base substitution G A intron_variant SKCA-BR 20 3978068 3978068 single base substitution A T intron_variant SKCA-BR 20 3980190 3980190 single base substitution T G intron_variant SKCA-BR 20 3980252 3980252 single base substitution T A intron_variant SKCA-BR 20 3984280 3984290 deletion of <=200bp CTTTTTTTTTT - intron_variant SKCA-BR 20 3985807 3985819 deletion of <=200bp AGGTTACTTCTTT - intron_variant SKCA-BR 20 3985821 3985821 single base substitution A T intron_variant SKCA-BR 20 3987770 3987770 single base substitution A G intron_variant SKCA-BR 20 3988991 3988993 deletion of <=200bp TAC - intron_variant SKCA-BR 20 3989062 3989062 single base substitution T C intron_variant SKCA-BR 20 3989078 3989081 deletion of <=200bp TATA - intron_variant SKCA-BR 20 3989432 3989432 single base substitution T C intron_variant SKCA-BR 20 3992412 3992412 single base substitution G A intron_variant SKCA-BR 20 3993076 3993076 single base substitution C A intron_variant SKCA-BR 20 3996241 3996241 single base substitution G A upstream_gene_variant SKCM-US 20 3914733 3914733 single base substitution G A missense_variant P142S 424C>T SKCM-US 20 3914733 3914733 single base substitution G A missense_variant P163S 487C>T SKCM-US 20 3915673 3915673 single base substitution C T synonymous_variant G113G 339G>A SKCM-US 20 3915673 3915673 single base substitution C T synonymous_variant G92G 276G>A SKCM-US 20 3944649 3944649 single base substitution G A missense_variant P27S 79C>T SKCM-US 20 3944649 3944649 single base substitution G A missense_variant P6S 16C>T STAD-US 20 3914747 3914747 deletion of <=200bp G - frameshift_variant P137 STAD-US 20 3914747 3914747 deletion of <=200bp G - frameshift_variant P158 STAD-US 20 3944542 3944542 single base substitution G T synonymous_variant L41L 123C>A STAD-US 20 3944542 3944542 single base substitution G T synonymous_variant L62L 186C>A THCA-SA 20 3912637 3912637 single base substitution G T 3_prime_UTR_variant THCA-SA 20 3912637 3912637 single base substitution G T downstream_gene_variant THCA-SA 20 3912638 3912638 single base substitution C G 3_prime_UTR_variant THCA-SA 20 3912638 3912638 single base substitution C G downstream_gene_variant THCA-SA 20 3996158 3996158 single base substitution G T 5_prime_UTR_variant THCA-SA 20 3996158 3996158 single base substitution G T upstream_gene_variant UCEC-US 20 3914790 3914790 single base substitution G T missense_variant L123I 367C>A UCEC-US 20 3914790 3914790 single base substitution G T missense_variant L144I 430C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P10-Tumor-Organoid COSM5365847 c.368G>T p.R123I Substitution - Missense 20:3934997-3934997 - ESCC_51 COSM5631043 c.393G>T p.E131D Substitution - Missense 20:3934180-3934180 - Gp2D COSM4627809 c.306C>T p.C102C Substitution - coding silent 20:3935059-3935059 - Gp2D COSM4627810 c.243C>T p.C81C Substitution - coding silent 20:3935059-3935059 - 10-P8045 COSM4581808 c.244A>C p.K82Q Substitution - Missense 20:3948242-3948242 - TCGA-EE-A2MK-06 COSM3546299 c.79C>T p.P27S Substitution - Missense 20:3964002-3964002 - I2L-P10-Tumor-Organoid COSM5365848 c.305G>T p.R102I Substitution - Missense 20:3934997-3934997 - TCGA-GF-A6C9-06 COSM4901006 c.487C>T p.P163S Substitution - Missense 20:3934086-3934086 - TCGA-EE-A2MK-06 COSM3546300 c.16C>T p.P6S Substitution - Missense 20:3964002-3964002 - TCGA-GN-A266-06 COSM3546296 c.276G>A p.G92G Substitution - coding silent 20:3935026-3935026 - 2492722 COSM5723072 c.410C>T p.P137L Substitution - Missense 20:3934163-3934163 - 2492720 COSM5723072 c.410C>T p.P137L Substitution - Missense 20:3934163-3934163 - CPCG0102-P2 COSM3396382 c.11A>G p.K4R Substitution - Missense 20:3974377-3974377 - 2492721 COSM5723073 c.347C>T p.P116L Substitution - Missense 20:3934163-3934163 - NB2181 COSM5703266 c.413A>G p.Q138R Substitution - Missense 20:3934097-3934097 - MOLT-4 COSM1681517 c.47G>A p.G16E Substitution - Missense 20:3963971-3963971 - ESCC_51 COSM5631044 c.330G>T p.E110D Substitution - Missense 20:3934180-3934180 - NB2181 COSM5703265 c.476A>G p.Q159R Substitution - Missense 20:3934097-3934097 - CPCG0102-P1 COSM3396382 c.11A>G p.K4R Substitution - Missense 20:3974377-3974377 - TCGA-HU-A4GU-01 COSM4098373 c.186C>A p.L62L Substitution - coding silent 20:3963895-3963895 - TCGA-HU-A4GU-01 COSM4098374 c.123C>A p.L41L Substitution - coding silent 20:3963895-3963895 - 10-P8045 COSM4581809 c.181A>C p.K61Q Substitution - Missense 20:3948242-3948242 - TCGA-CA-6717-01 COSM4785388 c.432A>G p.L144L Substitution - coding silent 20:3934141-3934141 - 2492721 COSM5723072 c.410C>T p.P137L Substitution - Missense 20:3934163-3934163 - MOLT-4 COSM1681516 c.110G>A p.G37E Substitution - Missense 20:3963971-3963971 - TCGA-D1-A17Q-01 COSM1592601 c.430C>A p.L144I Substitution - Missense 20:3934143-3934143 - TCGA-CA-6717-01 COSM1411778 c.369A>G p.L123L Substitution - coding silent 20:3934141-3934141 - 2492723 COSM5723072 c.410C>T p.P137L Substitution - Missense 20:3934163-3934163 - TCGA-GN-A266-06 COSM3546295 c.339G>A p.G113G Substitution - coding silent 20:3935026-3935026 - HN_62415 COSM125899 c.68A>T p.N23I Substitution - Missense 20:3963950-3963950 - 587242 COSM1223990 c.143+2T>C p.? Unknown 20:3963873-3963873 - 2492722 COSM5723073 c.347C>T p.P116L Substitution - Missense 20:3934163-3934163 - pfg043T COSM4748971 c.124T>G p.F42V Substitution - Missense 20:3963894-3963894 - TCGA-A3-3316-01 COSM1495088 c.308A>G p.K103R Substitution - Missense 20:3934994-3934994 - TCGA-A7-A26G-01 COSM1483630 c.59C>T p.S20L Substitution - Missense 20:3964022-3964022 - 2492723 COSM5723073 c.347C>T p.P116L Substitution - Missense 20:3934163-3934163 - TCGA-GF-A6C9-06 COSM4901007 c.424C>T p.P142S Substitution - Missense 20:3934086-3934086 - TCGA-D1-A17Q-01 COSM1026778 c.367C>A p.L123I Substitution - Missense 20:3934143-3934143 - pfg043T COSM4748970 c.187T>G p.F63V Substitution - Missense 20:3963894-3963894 - 2492720 COSM5723073 c.347C>T p.P116L Substitution - Missense 20:3934163-3934163 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.589865;Hs.589867;Hs.589869;Hs.589875;Hs.589877;Hs.589878;Hs.589880;Hs.589884 20p13 612489

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.292-119delT 20 3915839 ESCA A - IntronicDeletion . c.57-23delT 20 3944694 STAD G A 3-UTRSNV . c.507+18C>T 20 3914695 CM G A Missense p.A165V c.494C>T 20 3914726 HNSC G A Missense p.P27S c.79C>T 20 3944649 CM G A Missense p.S20L c.59C>T 20 3944669 BRCA G A Synonymous p.L43L c.129C>T 20 3944599 HNSC T A Missense p.N44I c.131A>T 20 3944597 HNSC T C IntronicSNV . c.206+4710A>G 20 3939812 CLL - TGTGTGGGGGG IntronicInsertion . c.57-2486_57-2485insCCCCCACACAC 20 3947157 CLL