Table 1.

Clinically significant variants identified by CHOP NGS panels

Gene	Chr	Transcripts	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	Allele fraction	Germline/somatic	Target Coverage
TP53	17	NM_000546	c.28_672dup	p.?	CNV	LoF	Nonmosaic	Germline	811×
HFE	6	NM_000410	c.187c > g	p.His63Asp	SNV	Missense	48%	Germline	562×
SBDS	7	NM_016038	c.258 + 2T > C	p.?	Indel	Splicing	40%	Germline	345×
NF1	17	NM_001042492	c.3884_3887dup	p.Gln1298Serfs*17	Dup	Frameshift	64%	Somatic	616×

(Chr) Chromosome, (CHOP) Children's Hospital of Philadelphia, (HGVS) Human Genome Variation Society, (NGS) next-generation sequencing, (CNV) copy-number variant, (SNV) single-nucleotide variant, (LoF) loss of function, (Dup) duplicate.