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Contact Me.SNV) mutation
frequency analysis of all
identified variants, including
possible missense mutations andnucleotide deletions andinsertions, was performed inparental and diseased tissue by
the "following" classification: (1)SNV is in the tissue of origin but
does not change amino acid, (2)SNV is in the tumor tissue but
3/6does not change amino acid, (3)SNV is in the tumor tissue andchanges amino acid, (4) SNV isin both the normal and tumor
tissue but does not change aminoacid, and (5) SNV is in thenormal tissue and changes aminoacid. A selection of nine SNVs
was performed for *FANCG*
and *FANCM*, as well as*POLH*, *POLI*, *POLK*,
and *POLL* (see [Table1](#tbl1){ref-type="table"}).
WES data analysis pipeline
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-------------------------- The
pipeline for WES data analysis
consisted of five main steps: (1)quality control of the sequencereads and the alignments, (2)identification of mutations andsomatic variant calls, (3) variant
filtering and prioritization, (4)gene annotation, and (5)functional filtering. All steps are
summarised in [Fig.
4](#fig04){ref-type="fig"}. Step
1 represented the QC of the
WES data f678ea9f9e
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