International Journal of Genomics / 2016 / Article / Tab 5

Research Article

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

Table 5

Variant Caller data from saliva and from corresponding blood sample for sample IDs 1601074005 and 1601074006.

1601074005Saliva1601074005Blood1601074005Blood reference lab1601074006Saliva1601074006Blood1601074006Blood reference lab
NucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosity

c.-26G>AHeteroc.-26G>AHeteroHeteroc.-26G>AHetero
c.3396A>GHeteroc.3396A>GHeteroc.3396A>GHeteroc.681+56C>THeteroc.681+56C>THetero
c.4563A>GHomoc.4563A>GHomoc.4563A>GHomoc.1910-74T>CHeteroc.1910-74T>CHetero
c.6513G>CHomoc.6513G>CHomoc.6513G>CHomoc.3396A>GHeteroc.3396A>GHeteroc.3396A>GHetero
c.7242A>GHeteroc.7242A>GHeteroc.7242A>GHeteroc.4563A>GHomoc.4563A>GHomoc.4563A>GHomo
c.7397C>THomoc.7397C>THomoc.7397C>THomoc.6513G>CHomoc.6513G>CHomoc.6513G>CHomo
c.7806-14T>CHeteroc.7806-14T>CHeteroc.7806-14T>CHeteroc.7397C>THomoc.7397C>THomoc.7397C>THomo
c.8487+19A>GHeteroc.8487+19A>GHeteroc.8487+19A>GHeteroc.7806-14T>CHeteroc.7806-14T>CHeteroc.7806-14T>CHetero
c.8755-66T>CHeteroc.8755-66T>CHeteroc.8755-66T>CHeteroc.8755-66T>CHetero
c.36C>GHeteroc.36C>GHeteroc.4837A>GHeteroc.4837A>GHeteroc.4837A>GHetero
c.4837A>GHomoc.4837A>GHomoc.4837A>GHomoc.4308T>CHeteroc.4308T>CHeteroc.4308T>CHetero
c.4308T>CHeteroc.4308T>CHeteroc.4308T>CHeteroc.3548A>GHeteroc.3548A>GHeteroc.3548A>GHetero
c.3548A>GHomoc.3548A>GHomoc.3548A>GHomoc.3113A>GHeteroc.3113A>GHeteroc.3113A>GHetero
c.3113A>GHeteroc.3113A>GHeteroc.3113A>GHeteroc.2612C>THeteroc.2612C>THetero
c.2612C>THomoc.2612C>THomoc.2612C>THomoc.2311T>CHeteroc.2311T>CHeteroc.2311T>CHetero
c.2458A>GHeteroc.2458A>GHeteroc.2458A>GHeteroc.2082C>THeteroc.2082C>THeteroc.2082C>THetero
c.2311T>CHeteroc.2311T>CHeteroc.2311T>CHeteroc.81-12delCHomo
c.2082C>THomoc.2082C>THomoc.2082C>THomo
c.441+17T>CHeteroc.441+17T>CHeteroc.441+17T>CHetero
c.212+23T>AHeteroc.212+23T>AHetero

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