Table 2. Nonsynonymous, somatic mutations in ESCO1, CHTF18 and MRE11A, in ECs.

Gene	Case No.	Histological Subtype	MSI Status	Nucleotide Change §	Amino Acid Change ¶	Mutation Type	Mutation Assessor (Release 2) Prediction	SIFT Prediction	Polyphen-2 Prediction
ESCO1	T79	Serous	Stable	c.G1012T	p.E338X	Nonsense	n/a	n/a	n/a
	T113	Clear cell	Stable	c.G1075A	p.D359N	Missense	Low	Tolerated	Benign
	T77	Clear cell	Unstable	c.C1595T	p.S532L	Missense	Low	Tolerated	Probably damaging
	T88	Endometrioid	Unstable	c.C2356T	p.R786C	Missense	Medium	Affects function	Probably damaging
CHTF18	T79	Serous	Stable	c.G2035A	p.D679N	Missense	Low	Tolerated	Probably damaging
	T88	Endometrioid	Unstable	c.C2560T	p.R854W	Missense	Medium	Tolerated	Possibly damaging
MRE11A	T68	Serous	Stable	c.G2074T	p.D692Y	Missense	Low	Affects function	Probably damaging
	T3†	Serous	Stable	c.G1448A	p.R483Q	Missense	Low	Tolerated	Benign
	T3†	Serous	Stable	c.G391A	p.D131N	Missense	Medium	Affects function	Possibly damaging

^†Case no T3 is also known as OM-1323.

n/a Not applicable.

^§Transcript accession numbers: ESCO1 (NM_052911.1), CHTF18 (NM_022092.1), MRE11A (NM_005591).

^¶Protein accession numbers: ESCO1 (NP_443143.2), CHTF18 (NP_071375.1), MRE11A (NP_005582.1).