Table 5.

Ion Proton/GeneRead‐validated somatic variants in patients with biliary tract cancer

Pt. no.	Chr	Position	Ref	Alt	Gene	Codon change	Amino acid location	Impact	dbSNP Database ID	1000 Genomes allele frequency
41	3	12647708	C	T	RAF1	atG/atA	M2241	Missense	–	0.0000
42	2	48026066	C	G	MSH6	tCt/tGt	S315C	Missense	rs63750491	0.0000
61	1	27094478	TG	T	ARID1A	–	G1063	Frameshift	–	0.0000
61	1	120465007	T	A	NOTCH2	Att/Ttt	I1689F	Missense	rs38648601, rs60854092	0.0100
61	3	138461407	T	C	PIK3CB	aAc/aGc	N205S	Missense	–	0.0000
61	1	120468425	G	A	NOTCH2	tcC/tcT	S1338	Synonymous	rs17024525	0.0500
61	7	6043386	G	A	PMS2	gcC/gcT	A96	Synonymous	rs12532895	0.1100
61	17	29533389	G	A	NF1	ccG/ccA	P464	Synonymous	rs201604273	0.0005

–, Not applicable; Alt, alternative; Chr, chromosome; dbSNP, Single Nucleotide Polymorphism Database; Pt, patient; Ref, reference.