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Table 2 Point mutations identified in the cancer mini-exome of patients 1 to 4

From: Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

 

Patient 1

Patient 2

Patient 3

Patient 4

Gene

TC

LM

TC

LM

TC

LM

TC

LM

APC

5:112175523 T/-

5:112175523 T/-

E1536* (5:1121758970)

E1536* (5:1121758970)

Y1376* (5:112175419)

Y1376* (5:112175419)

5:112128152 C/-

R499* (5:112162891)

   

R876* (5:112173917)

R876* (5:112173917)

    

DDR2

   

H340D (1:162731163)

    

KRAS

  

G12A (12:25398284)

G12A (12:25398284)

   

G12A (12:25398284)

PTPRF

  

D562G (1:44058144)

D562G (1:44058144)

    

SMAD2

   

R321* (18:45374882)

    

SMAD4

   

L495P (18:48604662)

    

TP53

    

R273C (17:7577121)

R273C (17:7577121)

R175H (17:7578406)

C275W (17:7577113)

MLL3

I155T (7:152012349)

I155T (7:152012349)

      

PARP14

Q1332P (3:122437236)

Q1332P (3:122437236)

      

PIK3CA

E545K (3: 178936091)

E545K (3: 178936091)

    

E545K (3: 178936091)

 

KDR

  

R1032* (4:55956221)

     

PRKCD

   

T419I (3:53220352)

    

RFC1

  

4:39290432 T/C

     

EXOC4

K765R (7:133682332)

       

TSC1

    

R288C (9:135787720)

   

FGFR2

R399* (10:123274723)

R399* (10:123274723)

      

NUP98

    

H1647D (11:3704460)

H1647D (11:3704460)

  

ERBB3

  

V104M (12:56478854)

V104M (12:56478854)

    

RASA3

   

V117M (13:114806499)

    

DNAH9

  

R4106H (17:11837216)

     

TAOK1

K484M (17:27835026)

K484M (17:27835026)

      

ATRX

      

X:76845412 +A

 

TTN

K13350N (2:179445230)

  

H8533Y (2:179571272)

    
    

E4246K (2:179604510)

    

EPHA4

   

2:222298957 +T

    
  1. TC, colon tumor; LM, liver metastasis. Genomic coordinates are based on the hg19 genome build.