Table 2. Exon sequencing data summary.

Exome capture statistics	Sample
	P1	P2	P3	P4	P5	P6	P7	P8
Initial bases on target	51543125	51543125	51543125	51543125	51543125	51543125	51543125	51543125
Total effective reads	75899756	79734481	86586748	77653615	88308120	59564257	81497876	101930390
Total effective yield (Mb)	6765.23	7106.16	7730.69	6923.94	7869.24	5310.08	7276.14	9093.9
Average read length (bp)	89.13	89.12	89.28	89.16	89.11	89.15	89.28	89.22
Number of reads uniquely mapped to target	37836108	36730995	37985759	37747936	38384211	35029879	37527575	38836426
Number of reads uniquely mapped to genome	67787246	71481223	77694661	69327742	79613569	52915432	72767207	91803083
Mismatch rate in all effective sequence (%)	0.22	0.23	0.21	0.22	0.21	0.19	0.22	0.22
Average sequencing depth on target (X)	61.64	60.27	62.23	61.71	62.31	57.39	61.78	63.2
Coverage of target region (%)	98.6	99.2	99.1	99.1	98.9	98.6	99.3	99.2
Fraction of target covered > = 20X (%)	79.4	79.9	81.5	89.4	80.1	77.5	81.1	80.6
Fraction of target covered > = 10X (%)	88.8	89.6	90.4	89.7	89.4	87.9	90.2	89.9
Fraction of target covered > = 4X (%)	94.9	95.9	96.2	95.8	95.5	94.6	96.2	96

P, patient. The average sequencing depth on target were all more than 57X in eight samples, Coverage of target region were over 98%.