Table 1.

Novel Heterozygous Missense, Nonsense, Frameshift, or Splice-Site Variants

Individuals			Shared
IV-2	IV-7	IV-14	IV-2 and IV-7	IV-2 and IV-14	IV-7 and IV-14	All
177	192	199	6	5	4	1

Number of novel heterozygous variants in the exome of each sequenced individual and the number shared across the individuals. Here, “novel” refers to a variant that has not been seen in dbSNP131, the August 2010 release of the 1000 Genomes project, or 11 in-house control exomes processed with the same laboratory and analysis pipeline.