Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies

BMC Genomics

Table 2 Subclonal point mutations

Refseq gene	position in transcript	Reference	Variant
NM_001077619	2874	A	G/C
NM_001113202	1035	G	A
NM_001113202	1038	T	A
NM_001113202	1034	T	A
NM_003112	4016	G	A
NM_003112	4024	T	A
NM_003112	4042	C	T
NM_005431	1294	C	G
NM_005431	1325	T	C
NM_005431	1408	A	G
NM_013276	2909	A	G
NM_013276	3065	C	T
NM_013276	3110	G	T
NM_018129	1977	C	T
NM_018129	2044	C	T
NM_018129	2154	A	G
NM_018129	1973	C	A
NM_018129	2822	G	C
NM_018373	1930	G	A
NM_018373	1887	C	T
NM_020642	934	C	T
NM_020642	942	T	C
NM_020675	1099	G	T
NM_020675	1129	G	T
NM_031886	3289	A	G
NM_031886	3285	C	T
NM_031886	3278	G	A
NM_031886	3271	G	A
NM_033426	3002	C	T
NM_033426	2821	A	C
NM_033426	2856	C	T
NM_144578	3320	C	A
NM_144578	3317	T	C
NM_144578	3425	C	T
NM_144578	3948	G	C
NM_144578	3946	G	A
NM_145280	1865	G	A
NM_145280	1623	G	A
NM_145280	1866	C	T/G
NM_145280	3564	A	G
NM_145280	2096	T	C

The majority of these mutations are not indels or typical RNA-editing substitutions, supporting the idea that these point mutations occur in a fraction of the subclones from the heterogeneous melanoma sample.

ISSN: 1471-2164