Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing

Table 3

Variant Caller data from saliva and from corresponding blood sample for sample IDs 1601074001 and 1601074002.

1601074001Saliva		1601074001Blood		1601074002Saliva		1601074002Blood		1601074002Blood reference lab
Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity
c.1114A>C	Hetero	c.1114A>C	Hetero	c.-26G>A	Hetero	c.-26G>A	Hetero	—	—
c.3807T>C	Hetero	c.3807T>C	Hetero	c.1114A>C	Hetero	c.1114A>C	Hetero	c.1114A>C	Hetero
c.4563A>G	Homo	c.4563A>G	Homo	c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero
c.6513G>C	Homo	c.6513G>C	Homo	c.4563A>G	Homo	c.4563A>G	Homo	c.4563A>G	Homo
c.7397C>T	Homo	c.7397C>T	Homo	c.6153G>C	Homo	c.6153G>C	Homo	c.6153G>C	Homo
c.7469T>C	Hetero	c.7469T>C	Hetero	c.7397C>T	Homo	c.7397C>T	Homo	c.7397C>T	Homo
c.1067A>G	Hetero	c.1067A>G	Hetero	c.4837A>G	Hetero	c.4837A>G	Hetero	c.4837A>G	Hetero
c.442-34C>T	Homo	c.442-34C>T	Homo	c.4308T>C	Hetero	c.4308T>C	Hetero	c.4308T>C	Hetero
				c.3548A>G	Hetero	c.3548A>G	Hetero	c.3548A>G	Hetero
				c.3113A>G	Hetero	c.3113A>G	Hetero	c.3113A>G	Hetero
				c.2612C>T	Hetero	c.2612C>T	Hetero	c.2612C>T	Hetero
				c.2311T>C	Hetero	c.2311T>C	Hetero	c.2311T>C	Hetero
				c.2082C>T	Hetero	c.2082C>T	Hetero	c.2082C>T	Hetero