List of exome sequencing variants which did not appear in the literature search which may be causative of disease.

Table 5: List of exome sequencing variants which did not appear in the literature search which may be causative of disease.

Gene	Mutation	MAF (%)	PolyPhen	Note
EIF4G1	R1223H	1.13	0.999	MAF found in AA population
MENIN	R176Q	1.54	0.995	MAF 2.1 among EA population
RET	L56M	0.53	0.795	MAF found among EA populations
RET	G446R	0.73	0.842	MAF found among AA population
RET	R982C	1.62	1
SDHB	c.166_170delCCTCA	0.68	0.874	MAF found among AA population
SDHD	c.129G > A	0.63	0.985

The EVS reports MAF based on "European American" (EA) and "African American" (AA) populations. A MAF for any damaging variant for either population is reported here. When the MAF for only one population is reported, it is assumed that the total MAF was < 0.5.