Table 1.

SMARCA4 mutations identified in DNA from SCCOHT patients and cell lines

Sample ID	Publication	Age at diagnosis (years)	SMARCA4 mutations		IHC
			Germline	Tumor	SMARCA4	SMARCB1
SCCO-001	New case	22	N/A	p.Ala161Val	Negative	Positive
				p.Ala532fs
SCCO-004	New case	32	None	p.Val204fs	Negative	Positive
SCCO-005	New case	18	None	p.Asp1299fs	N/A	N/A
SCCO-006	New case	32	None	p.Trp764fs	Negative	Positive
				p.Gly836*
SCCO-007	New case	25	N/A	p.Gln331*	Negative	Positive
				p.Ile542fs
SCCO-009	New case	27	N/A	p.Tyr1050fs	Negative	Positive
SCCO-011	New case	30	N/A	Homozygous p.Arg1189*	Negative	Positive
SCCO-016	New case	12	N/A	Homozygous p.Arg1329fs	Negative	Positive
SCCO-018	New case	5	N/A	None	Positive	Negative+
SCCO-019	New case	27	N/A	p.Phe844fs	Negative	Positive+
SCCOHT-1	New case	Tumor cell line	N/A	p.Pro1180fs p.Arg1077*	Negative+	N/A
SCCO-002	Ramos et al.	26	None	None	Negative	Positive
SCCO-008	Ramos et al.	9	p.Arg979*	N/A	N/A	N/A
SCCO-010	Ramos et al.	6	None	None2+	Positive	Negative
SCCO-012	Ramos et al.	21	N/A	None	Negative	Positive
SCCO-014	Ramos et al.	33	N/A	p.Glu667fs	N/A	N/A
				p.Leu1161fs
SCCO-015	Ramos et al.	27	N/A	p.Arg1189*	N/A	N/A
SCCO-017	Ramos et al.	10	p.Gly241fs	Homozygous p.Gly241fs2+	Negative	Positive
DAH23	Ramos et al.	30	N/A	c.2438+1_2438+2insTGA	Negative	N/A
DAH456	Ramos et al.	39	None	None	Positive	Positive
DAH457	Ramos et al.	23	N/A	p.Arg1093*	N/A	Positive
DG1006	Ramos et al.	34	None	p.Glu952fs	Negative	N/A
				p.Ser1591fs
DG1219	Ramos et al.	37	None	c.3168+1>A	Negative	N/A
BIN-67	Ramos et al.	Tumor cell line	N/A	c.2438+1G>A	Negative	Positive
				c.2439–2A>T

⁺This tumor was not previously stained for this marker

²⁺The tumor for this case was not previously sequenced