Table 4. Positive variants included in validation study.

Mutation type	Subtype	Number of positive variants
		Reference data	Orthogonal confirmation
SNV	N/A	525
Indel	Indels < 10 bp	10	4
	Indels ≥ 10 bp	1	6
CNV	Single-exon deletions or duplications		10
	Multiple exon deletions or duplications		69

Notes.

Number of variants for the “multiple exon deletions and duplications” subtype is calculated by counting individual exons affected by the deletion/duplications.