. 2019 Jul 3;12:103. doi: 10.1186/s12920-019-0553-0

Table 2.

Clinical features and variants detected by NGS in patients with somatic APC mosaicism

ID	Age at onset	Number of polyps	Colorectal carcinoma	Family history	Specimen	Mutation detected		Variant callers (variants allele frequency)				Median depth	Confirmation test
ID	Age at onset	Number of polyps	Colorectal carcinoma	Family history	Specimen	Mutation detected		HC	MuTect2	VarScan2	Pindel	Median depth	Confirmation test
P1	40~49	100 s	No	None	leukocyte	c.3295_3296del	p.Val1099PhefsTer19	ND	0.077	ND	0.068	2668	MEMO-PCR
P1	40~49	100 s	No		polyp	c.3295_3296del	p.Val1099PhefsTer19	0.206	0.206	0.228	0.197	790
P2	40~49	100 s	Adenocarcinoma	None	leukocyte	c.3860_3861dup	p.Gly1288Ter	ND	0.035	0.094	0.032	2497	MEMO-PCR
P3	30~39	200 s	No	None	leukocyte	c.3577_3578del	p.Gln1193ValfsTer14	ND	0.003	ND	0.003	4076	Tissue
P4	50~59	50–70	Adenocarcinoma	None	leukocyte	c.1754delT	p.Leu585ProfsTer5	ND	0.018	ND	0.020	2960
P5	40~49	30–50	No	Maternal rectal cancer at the age of 70	leukocyte	c.694C > T	p.Arg232Ter	ND	0.034	ND	ND	2185	Tissue
P6	40~49	20–30	No	None	leukocyte	c.3566C > G	p.Ser1189Ter	0.114	0.114	0.114	ND	3624	Sanger sequencing
P7	30~39	300 s	Adenoma	None	leukocyte	c.3211_3238dup	p.Glu1080AlafsTer10	0.195	0.275	ND	0.174	1310	Sanger sequencing

HC HaplotypeCaller, MEMO Mutant enrichment with 3′-modified oligonucleotides, ND Not detected