Table 3.

De novo variants of chromatin modifier genes identified from the two CHD cohorts.

Variant Category	DDD Plus Study-Sifrim 2016 (N = 1039)				PCGC-Jin 2017 (N = 2645)				Combined CHD (N = 3684)				Controls (N = 1789)
	Allele Count	OR	95% CI	p-value	Allele Count	OR	95% CI	p-value	Allele Count	OR	95% CI	p-value	Allele Count
Total	32	3.28	2.79, 6.01	7.15E-05	49	1.89	1.07, 3.33	0.028	81	2.27	1.32, 3.89	0.0017	16
PT	19	15.53	3.61, 66.8	9.53E-07	25	7.71	1.82, 32.6	5.10E-04	44	9.85	2.38, 40.7	1.55E-05	2
Missense	12	1.94	0.84, 4.51	0.13	17	1.04	0.47, 2.28	1.0	29	1.29	0.63, 2.65	0.60	10
D-mis	8	2.59	0.84, 7.92	0.094	8	0.98	0.32, 3.00	1.0	16	1.42	0.52, 3.88	0.64	5
PT or D-mis	27	6.33	2.75, 14.6	1.13E-06	33	2.91	1.28, 6.58	8.04E-03	60	3.84	1.75, 8.42	1.44E-04	7
Non D-mis	4	1.29	0.34, 4.81	0.74	9	1.10	0.37, 3.29	1.0	13	1.15	0.41, 3.24	1.0	5
SYN	0	0.18	0.01, 3.32	0.30	7	1.07	0.31, 3.66	1.0	7	0.77	0.23, 2.65	0.74	4