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Table 4 Genomic features of the mutations

From: Genome instability in blood cells of a BRCA1 + breast cancer family

A. Genome distribution of the mutations
Gene Position Repetitive sequence Structural variation Fragile site
BPTF chr17:65850386 - + - - -
CACNB3 chr12:49220218 - + - - -
CHCHD1 chr10:75541868 - + - - -
FOXP1 chr3:71247489 - + - - -
GSTK1 chr7:142964824 - + - - -
ITGA1 chr5:52240783 - + - - -
LACRT chr12:55028594 - + - - -
PHKG2 chr16:30767746 - + - - -
SRA1 chr5:139936828 - + - - -
CLCN4 chrX:10176455 - + - - -
LAT chr16:29000901 - + - - -
KCTD8 chr4:44177010 - + - - -
ABLIM2 chr4:8055946 - + 4A 5149099 8732840
PAMR1 chr11:35456266 - + 11E 31043424 36443424
TTN chr2:179400887 - + 2G 169791754 182991755
UEVLD chr11:18553971 - - 11C 16143424 21643424
ZNF24 chr18:32919897 - - 18A 32746002 37246002
CUL4B chrX:119680410 - - - - -
SEMA3C chr7:80374250 - - - - -
TBC1D22B chr6:37280778 - - - - -
TMPRSS7 chr3:111797705 - - - - -
ZNF304 chr19:57868409 + - - - -
ZNF674 chrX:46359537 + - - - -
B. Transition/ transversion of the mutations
Wild type Mutation Wild type Mutation    
Common mutations (> = 2)
C T T G    
C T G T    
C T C G    
C T      
G A      
G A      
G A      
G A      
G A      
Individual mutations
C T A T    
G A A T    
G A A C    
G A G T    
G A G T    
   C A    
C. Transition/Transversion ratio
Class Transition Transversion Ratio    
Total mutation 14 9 1.6    
Common 9 3 3    
Individual 5 6 0.8