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Table 4 Case-mixed analysis of tumour site specific mutations

From: Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing

Gene

Variant

PT - Colon

PT - Rectum

syn

M[HEP]

syn

M[PUL]

met

M[HEP]

met

M[PUL]

ABL1

p.315S

0

0

0

2

0

0

APC

p.R876*

2

0

0

0

0

3

p.R1114*

0

0

0

0

0

4

p.E1284*

0

0

0

2

0

0

p.Q1338*

0

0

0

2

0

0

ATM

p.A1812V

0

0

2

0

0

0

ERBB4

p.D300N

0

0

0

2

0

0

FGFR3

p.T722I

0

0

0

0

2

0

PDGFRA

p.P577S

1

1

0

0

0

0

PTEN

p.Q171*

2

0

0

0

0

0

p.H185Y

1

1

0

0

0

0

SMAD4

p.R361C

0

0

0

2

0

0

TP53

p.W91*

0

0

0

0

0

2

p.175H

0

0

2

0

0

0

p.V157F

0

0

0

0

2

0

p.R196*

0

0

0

0

0

3

p.R282W

0

0

0

0

0

3

p.R273C

0

0

0

0

0

2

  1. The table presents the gene variants detected in at least 2 samples per tumour site further to KRAS and NRAS, as analyzed in a case-mixed manner and with exclusion of known SNPs