Table 3.

Summary of iBRI results for the top associated DNA repair genes and most likely associated variant in each gene

Gene-level associationsa							Variant-level associationsa
			Study-specific BFiBRIb								Study-specific BFiBRI
Genec	Subathway	Summary BFiBRId	KY	CCFR	MECC		Tot. variantse	Most likely associated variantf	dbSNPg	Summary BFiBRI	KY	CCFR	MECC
RPA2	OTHER	164.28	0.08	27.12	73.16		2	exm37202	rs28988897	657.56	0.17	54.26	73.16
PRKDC	NHEJ	109.77	265.43	1.74	0.24		39	exm699630	rs8178232	17.68		17.68
ERCC5	NER	65.52	27.98	1.05	2.22		23	exm1078156	rs141369732	6.39			6.39
ERCC8	NER	21.9	0.54	40.4			8	exm456700	rs201642761	0.92		0.92
REV3L	TLS	3.57	0.98	1.71	2.13		30	exm572168	rs189752287	32.14		32.14
XPC	NER	3.39	4.85	4.15	0.17		13	exm292542	rs121965090	46.91	18.56	2.53
LIG4	NHEJ	2.88	1.79	6.88	0.23		12	exm1078631	rs201683262	3.48	3.28	1.06
MSH3	MMR	2.42	9.22	0.37	0.7		15	exm464610	rs35009542	2.34	2.34
POLQ	XLR	1.9	0.86	2.11	1.04		36	custom_3.121212545	rs767282392	0.75		0.75
TDG	BER	1.41			1.41		1	exm1031747	rs140436257	1.41			1.41

^aSee Supplementary Tables 6 and 7 for details on gene- and variant-level associations

^bStudy-specific BF from the iBRI method; empty cells if no rare variants in the gene

^cOnly genes with summary BF≥1 from the iBRI method are shown; genes are ordered by decreasing summary BF

^dSummary BF from the iBRI method

^eTotal number of unique rare variants identified in the gene across the three studies (KY, CCFR, MECC)

^fMost likely associated variant in the gene based on summary BF from the iBRI method

^gdbSNP identifiers retrieved from the National Center for Biotechnology Information (NCBI)