Table 2.

High Quality Variants in Polyposis Patients

Patient ID No.	HQ Variant	Personal History of Cancer and Polyps	Family History of Neoplasia
120200	ERCC3*	>20 adenomas@50	No
126784	None	10 adenomas in 20s+	M/Br@44 and 51; MA/Br@45; MGM/Br@84; PGM/Br@73; PGF/Pros@70
130170	DCLRE1A ERCC4 SPC24 BMP7	>20 adenomas@47	Sis/pols&CRC@52; MA/CRC@50; MGM/Lymph@55; MC/Pols
130924	SHPRH NCAPD3 ESPL1 TEX14	Hodgkins@23 50–100 adenomas@50	Sis/Thyr@40; F/CRC@78; PU/UnknownCancer@70s; PGM/Br@70s; MA/Panc@50
133486	RFC2 MIS18BP1	11 adenomas@33+	B/Pols@47and @60, PA/pols@82, PU/CRC&Pols@70

HQ Variant: variant with GO annotation of DNA replication, DNA repair, checkpoint, mitotic, or mitosis; reported in < 1/100 exomes; and scoring > 0.95 on the current PolyPhen2 program and deleterious by 2/3 other programs: SIFT, Provean, and MutationAssessor. Polyps: polyps in the patients - known number are listed. Family history of neoplasia: F: father, M: mother, Sis: sister, Br: brother, MA: maternal aunt, MU: maternal uncle, PU: paternal uncle, MC: maternal cousin etc./organ site@age at diagnosis, Pols: polyps.

^*This variant does not technically fit the HQV definition used in this study, but is of interest due to frameshift resulting in early truncation. In addition this patient harbors another TT to AA change (c.113_114delinsAA). This variant is not represented in ExAC.