Table 2 Mutation rate in BD cohort and ExAC database for genes mutated in multiplex families.

Gene symbol	Mutation type	Mutation rate in BD^a (N = 249)	Mutation rate in ExAC cohort^b (N = 21,071)	p value^c	OR [95% CI]	FDR^d
WDR37	LoF	0.004	0.0000	0.0001	+∞ [24.42; +∞]	0.002
SMARCC2	Missense	0.016	0.004	0.0006	4.51 [2.20; +∞]	0.006
UPF2	Missense	0.020	0.007	0.003	3.01 [1.61; +∞]	0.02
HELLS	Missense	0.018	0.007	0.008	2.72 [1.40; +∞]	0.04
HSPH1	LoF	0.002	0.0001	0.06	21.13 [0.87; +∞]	0.21
SETD2	Missense	0.028	0.018	0.06	1.6117 [0.96; +∞]	0.21
ATP2B2	Missense	0.016	0.010	0.15	1.56 [0.77; +∞]	0.37
VCL	Missense	0.014	0.009	0.15	1.64 [0.76; +∞]	0.37
RBM14	Missense	0.012	0.007	0.16	1.6 [0.72; +∞]	0.37
RPTOR	Missense	0.008	0.005	0.24	1.61 [0.54; +∞]	0.50
EIF3L	Missense	0.004	0.002	0.3	1.86 [0.3254; +∞]	0.57

OR [95% CI] odds ratio with 95% confidence interval, LoF loss-of-function variant.
^aBD corresponding to 241 individuals of WES cohort +1 proband by family.
^bNon-Finnish and non-psychiatric European population of ExAC.
^cOne-sided Fisher exact test.
^dFalse discovery rate after Benjamini–Hochberg correction for multiple testing.

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