Table 1.

Significant associations between cancer gene eQTL and global tumor mutations

	eQTL						Association results with TMB or TMC			Association results with gene expression from GTExa
Cancer type	Region	Lead SNP	Posb	Effect allele	Other allele	EAF	Beta	SE	P value	Gene	Beta (FE)	P value (FE)	Beta (RE)	P value (RE)	P value (RE2)
TMB of all cancer genes on OncoPanel
Ovarian Cancer	2q14.2	rs1530578	121702128	T	C	0.01	17.61	3.02	1.26E-08	GLI2	−0.11	2.41E-16	−0.11	2.00E-10	1.33E-16
Glioma	8p12	rs139944315	30332577	T	A	0.99	−16.36	2.65	1.21E-09	WRN	−0.30	6.35E-44	−0.28	4.16E-20	6.79E-45
Esophagogastric Carcinoma	16q22.1	rs11075646	66969176	C	G	0.90	−2.57	0.53	1.48E-06	CBFB	0.05	2.06E-12	0.05	1.34E-08	3.03E-12
TMC of recurrently mutated cancer genes
Colorectal Cancer	4q13.2	rs10031417	66700879	A	G	0.55	−0.18	0.04	2.04E-06	EPHA5	0.03	5.63E-05	0.03	4.12E-02	6.36E-13
Endometrial Cancer	5q22.2	rs397768	112181576	G	A	0.38	0.24	0.05	1.43E-05	APC	0.01	7.91E-02	0.00	7.36E-01	3.77E-10
Endometrial Cancer	8p12	rs11782945	31082006	G	A	0.41	0.58	0.12	4.95E-07	WRN	0.06	1.06E-26	0.06	4.95E-21	3.14E-26
Endometrial Cancer	12q13.3	rs73115907	57754701	G	A	0.76	−0.31	0.06	4.61E-07	GLI1	−0.02	2.75E-03	−0.02	1.31E-01	2.99E-08
Endometrial Cancer	16q24.3	rs7201264	90036122	C	G	0.20	0.41	0.07	1.10E-08	FANCA	−0.07	4.70E-18	−0.09	1.32E-07	8.17E-41
Endometrial Cancer	17p13.1	rs17884306	7572101	C	T	0.94	−0.60	0.13	4.36E-06	TP53	0.09	2.41E-16	0.08	4.45E-12	8.15E-16

^aMeta-analysis results of the associations between the eQTL and normalized gene expression levels across 49 tissues

^bPosition based on GRCh37/hg19