Table 1. Exon CNVs in the evaluation set.

A total of 31 known exon CNVs in the evaluation set that were previously identified by multiplex ligation-dependent probe amplification. CNV, copy number variant.

Gene	CNV
BRCA1	Exon 5-8 duplication
BRCA1	Exon 13 duplication
BRCA1	Exon 20 deletion
BRCA1	Exon 1-12 deletion
BRCA1	Exon 1-2 deletion
BRCA1	Exon 21-24 deletion
BRCA1	Exon 8-13 deletion
BRCA1	Exon 16 deletion
BRCA1	Exon 22 deletion
BRCA1	Exon 20-22 deletion
BRCA2	Exon 14-16 deletion
BRCA2	Exon 1-11 deletion
BRCA2	Exon 1-2 deletion
BRCA2	Exon 2 deletion
BRCA2	Exon 21 duplication
BRCA2	Exon 21-24 deletion
EZH2	Exon 1-20 deletion
FH	Exon 1-10 deletion
MLH1	Exon 16-19 deletion
MSH2	Exon 1-6 deletion
NSD1	Exon 1-2 deletion
NSD1	Exon 1-23 deletion
NSD1	Exon 1-5 deletion
NSD1	Exon 19-21 deletion
NSD1	Exon 9-13 deletion
NSD1	Exon 22 deletion
SDHB	Exon 1 deletion
SDHB	Exon 2-7 deletion
SDHB	Exon 3-8 deletion
TP53	Exon 1-11 deletion
WT1	Exon 1-10 deletion