Whole-Exome Sequencing-Based Mutational Profiling of Hepatitis B Virus-Related Early-Stage Hepatocellular Carcinoma

Table 2

Summary of frequent mutations in 8 genes verified by Sanger sequencing.

Gene	Gene ID	Chromosome^#	Sample ID	Position	Reference base	Mutation base	Protein annotation	Mutation type	Sanger-seq verified
USH2A	NM_206933.2	chr1	Patient 5	216462732	T	A	Lys621	Nonsese	Yes
			Patient 2	215844382	T	A	Ile4689Phe	Missense	Yes
TENM4	NM_001098816.2	chr11	Patient 5	78381220	T	A	Tyr2057Phe	Missense	Yes
			Patient 4	78413375	A	T	Val1428Glu	Missense	Yes
			Patient 4	78567209	A	T	Phe424Ile	Missense	Yes
UNC79	NM_020818.3	chr14	Patient 1	94004491	A	G	Thr250Ala	Missense	Yes
			Patient 2	94053131	A	T	Asp793Val	Missense	Yes
DNAH17	NM_173628.3	chr17	Patient 5	76454758	A	C	Leu3289Arg	Missense	Yes
			Patient 4	76557998	T	A	Tyr545Phe	Missense	Yes
MUC16	NM_024690.2	chr19	Patient 5	9057619	A	G	Ser9943Pro	Missense	Yes
			Patient 2	9077617	T	A	Met3277Leu	Missense	Yes
PTPN13	NM_080685.2	chr4	Patient 4	87694021	T	A	Tyr1758	Nonsese	Yes
			Patient 1	87656828	G	C	Glu745Gln	Missense	Yes
PCLO	NM_033026.5	chr7	Patient 4	82545516	T	A	Gln3929Leu	Missense	Yes
			Patient 1	82532009	T	A	Arg4496Trp	Missense	Yes
PDE1C	NM_001191058.1	chr7	Patient 4	31920370	C	A	Asp138Tyr	Missense	Yes
			Patient 2	32109908	C	T	Gly33Glu	Missense	Yes

^#Coordinates refer to the human reference genome hg19 release (Genome Reference Consortium Human Build 37 (GRCh37), Feb. 2009); stop codon.