Case 1 2 Total effective yield(Mb) 3,801.77 3,935.91 Effective sequence on target(Mb) 2,290.43 2,296.60 Average sequencing depth on target 60.71 60.87 Coverage of target region 98.3% 98.4%    covered with at least 10X 89.1% 89.2% covered with at least 20X 79.0% 79.2% Total number of variants* 32,432 32,349    No. Non-synonymous variants 7432 7468    No. not in dbSNP 915 951    No. not in 1000 Genomes Project 572 579    No. not in HapMap 8 472 468    No. not in YH1 genome data 468 461    No. shared by 2 cases 250      No. homozygous 4   SIFT prediction        No. Tolerated 3      No. Damaging 1

Coverage: the average number of times each base is represented in the sequencereads; dbSNP: the Single Nucleotide Polymorphism Database (build 129) ofthe National Center for Biotechnology Information; HapMap 8: eight previouslyexome-sequenced HapMap samples; 1000 Genomes Project: the SNP release ofthe 1000 Genome Project (20100208 release); YH1 genome data”YanHuang 1genome database *Variants were filtered gradually according the criteria.

Table 1: Results of exome sequencing and details of data analysis.