Table 4.

Final set of single-nucleotide variants

Model	Ref → Alt/effect	Location hg19	Affected gene	Algorithms that called the variant	Pedigree ID	ExAC allele frequency	CADD score
De novo	Sub (C → T) missense	Chr1: 209823359	LAMB3	FB, MA, GATK	SSC_12605	0	22.7
De novo	Sub (G → A) nonsense	Chr17: 4458481	MYBBP1A	FB, MA, GATK	K21	1/74014 = 0.00001351	40

ExAC, Exome Aggregation Consortium; CADD, combined annotation dependent depletion; FB, FreeBayes; MA, multinomial analyzer; GATK, Genome Analysis Toolkit.