Table 2.

Study Participants with No Candidate or Unconfirmed Candidate Somatic Mutations in or Linked to the Shh Pathway

Subject	Genomic Analysis Method(s)			Annotation of Candidate Mutations	Shh Gene(s) (KEGG)	VAF Brain	VAF Blood	Method of Detection
WES	CMA	TRS
hht929	×	×	×	c.494dupG (p.Cys168LeufsTer4) [GenBank: NM_057168.1]	WNT16a	31%	4%	WES, TRS
hht25093 g	×	−	−	c.248T>C (p.Leu83Pro) [GenBank: NM_002730.3]	PRKACA	14%	1%	WES
hht20138	−	×	×	c.984dupT (p.Asp329Ter) [GenBank: NM_002730.3]	PRKACA	25%	0%	TRS
hht25060	−	×	×	c.1025dupG (p.Ala343ArgfsTer35) [GenBank: NM_003393.3]	WNT8B	28%	0%	TRS
c.394C>T (p.Gln132Ter) [GenBank: NM_182948.2]	PRKACB	25%	0%
c.5293dupC (p.Gln1765ProfsTer201) [GenBank: NM_004380.2]	CREBBPb	14%	0%
hht25186	−	−	×	c.6858dupT (p.Glu2287Ter) [GenBank: NM_004525.2]	LRP2	17%	3%	TRS
c.4230dupT (p.Gly1411TrpfsTer10) [GenBank: NM_004380.2]	CREBBPb	14%	0%
hht25064	−	−	×	ND	NA	NA	NA
hht1276d	×	−	−	ND	NA	NA	NA
hht322b	×	×	−	ND	NA	NA	NA
hht25132h	×	×	−	ND	NA	NA	NA
hht786	×	×	×	ND	NA	NA	NA
hht25080	×	×	×	ND	NA	NA	NA
hht25099	×	×	×	ND	NA	NA	NA
hht25059	−	×	×	ND	NA	NA	NA
hht25082	×	−	×	ND	NA	NA	NA
hht25050	−	×	−	ND	NA	NA	NA
hht25054	−	×	−	ND	NA	NA	NA
hht25066	−	×	−	ND	NA	NA	NA
hht25072	−	×	−	ND	NA	NA	NA
hht25079	−	×	−	ND	NA	NA	NA
hht25089	−	×	−	ND	NA	NA	NA
hht25097	−	×	−	ND	NA	NA	NA
hht25098	−	×	−	ND	NA	NA	NA
hht25052	−	×	×	ND	NA	NA	NA
hht25056	−	×	×	ND	NA	NA	NA

Shh, Sonic hedgehog; VAF, variant allele frequency; WES, whole-exome sequencing; CMA, chromosomal microarray; TRS, targeted resequencing; ×, used; −, not used; NA, not applicable; ND, none detected. All coordinates correspond to the UCSC Genome Browser reference genome (GRCH37/hg19).

^aCandidate mutation found in WNT16 was detected with both next-generation sequencing technologies but not confirmed with Sanger sequencing because of insufficient DNA.

^bTranscriptional regulator of the Shh pathway.