Table 2.

Summary of results of eight validated somatic variants

Variant	Gene	Function	Sample	Tissue	S2N	MAF	CADD	WES-Blood			WES-Brain			P-value	Panel-Blood			Panel-Brain			P-value
								REF	ALT	VAF	REF	ALT	VAF		REF	ALT	VAF	REF	ALT	VAF
chr1:11073909: G/A	TARDBP	Nonsyn	SD14	MTG	9.8	0	20	87	0	0.000	765	10	0.013	0.6	5126	0	0.000	18719	271	0.014	9 × 10−29
chr1:11073909: C/T	TARDBP	Nonsyn	SD10	DG	NA	0	28	138	0	0.000	1037	0	0.000	1	9349	4	0.000	7533	152	0.020	3 × 10−47
chr9:130928555: T/G	CIZ1	Nonsyn	SD11	DG	20.8	0	16	39	0	0.000	323	54	0.143	0.005	134	0	0.000	346	35	0.092	3 × 10−5
chr17:4883215: A/G	CAMTA2	Nonsyn	SD09	DG	11.1	0	18	58	1	0.017	420	42	0.091	0.07	146	1	0.007	1058	24	0.022	0.4
chr17:34192311: T/G	HEATR9	Nonsyn	SD11	DG	7.6	0	13	72	0	0.000	278	21	0.070	0.02	3232	24	0.007	18031	329	0.018	3 × 10−6
chr17:70119726: C/A	SOX9	Nonsyn	SD14	DG	9.0	0	20	56	1	0.018	405	15	0.036	0.7	1676	5	0.003	1133	76	0.063	9 × 10−24
chr19:51133405: A/G	SYT3	Nonsyn	SD11	DG	8.5	0	14	14	0	0.000	227	25	0.099	0.4	103	0	0.000	1593	29	0.018	0.4
chr19:51133405: A/G	SYT3	Nonsyn	SD09	DG	12.4	0	14	21	0	0.000	236	40	0.145	0.09	289	1	0.003	1829	29	0.016	0.2

All eight variants passed the validation criteria. WES-Blood/WES-Brain shows the read counts for variant and wild-type from exome sequencing. Panel-Blood/Panel-Brain shows the counts for the amplicon panel. ALT = number of reads carrying the alternative allele; MAF = minor allele frequency; Nonsyn = non-synonymous; REF = number of reads carrying the reference allele; S2N = signal to noise; VAF = variant allele frequency. P-values were obtained by Fisher’s exact tests of the counts between blood and brain.