Table 3. Variants detected on pseudomyxoma peritonei by exome sequencing and validated by ultra-deep amplicon sequencing.

Patient	Gene	Ensembl gene	Ensembl transcript	Chromosomal position	Nucleotide (cDNA)	Amino acid (protein)	CADD score	Evidence*	Criteria for annotating variant as a potential artefact**
2	OXTR	ENSG00000180914	ENST00000316793	3:8809260	c.C614G	p.T205R	19.8		2, 3, 4
201	LTBP1	ENSG00000049323	ENST00000354476	2:33335707	c.G922A	p.V308M	11.3	Cosmic	1, 2, 3, 5
202	THBS1	ENSG00000137801	ENST00000260356	15:39885810	c.A3208G	p.T1070A	24.3		3, 4
206	DUSP22	ENSG00000112679	ENST00000344450	6:348195	c.G356A	p.R119H	34		1, 2, 3, 4
206	EDNRA	ENSG00000151617	ENST00000324300	4:148441016	c.G434A	p.R145H	23.8		1, 3, 4
206	PRKAR1A	ENSG00000108946	ENST00000589228	17:66518896	c.178-1G>C	splice site variant	24.7		1, 3, 4, 6
206	RYR2	ENSG00000198626	ENST00000366574	1:237693756	c.G2852T	p.G951V	23		3, 4
210	TGFBR2	ENSG00000163513	ENST00000295754	3:30729968	c.C1489T	p.R497X	50	Cosmic
210	PPP2R1B	ENSG00000137713	ENST00000527614	11:111626081	c.C781T	p.R261X	38		1, 3, 4
210	ACVR1B	ENSG00000135503	ENST00000257963	12:52374813	c.G641T	p.G214V	31	Cosmic	3
210	GUSB	ENSG00000169919	ENST00000304895	7:65439369	c.G1304A	p.R435H	26.9		1, 3, 4
214	TGFBR2	ENSG00000163513	ENST00000295754	3:30732957	c.G1570A	p.D524N	35	Cosmic	1, 6
31	GRIA2	ENSG00000120251	ENST00000296526	4:158233974	c.C613T	p.R205W	28	Cosmic	1, 3, 6
31	CNGB1	ENSG00000070729	ENST00000251102	16:57950065	c.C2185T	p.R729X	17.9	Cosmic	1, 3

X: stop-gain. CADD score reflects the deleteriousness of the mutation.

*Cosmic: Occurence of similar mutation in the COSMIC database [28].

** Criteria for annotating a variant as a potential artefact are:

1. C→T/G→A reported only by one variant caller
2. VAF < average in a sample
3. found only in a single sample
4. not reported as recurrently mutated in COSMIC
5. CADD score < 15
6. coverage < 50% of sample average