Table 2. All somatic variants in tumor... | Rockefeller University Press

Table 2.

All somatic variants in tumor tissues

Patient	Gene	Effect	CDS change	Protein change	CADD phred
P1–1	*CARD11*	Missense	c.G338A	p.R113Q	15.5
	*CARD11*	Missense	c.A760G	p.K254E	21.4
	*GNA13*	Splicing	c.283+2_283+3insCAACGTGATCAAAGG	-	-
	DENND5A	Missense	NM_001348749 c.G590A	p.S197N	10.7
	ADCY2	Missense	c.G555C	p.E185D	10.1
	DSP	Missense	NM_001008844 c.G2968T	p.G990W	18.1
P1–2	*MECOM*	Missense	c.A1319T	NM_001105078 p.N440I	11.4
	MRC2	Missense	c.C4315T	p.R1439C	24.4
	AGPS	Missense	c.T831G	p.H277Q	13.8
	CLYBL	Missense	c.T383C	p.V128A	12.1
	VBP1	Missense	c.C62T	p.P21L	13.8
	SLITRK6	Missense	c.C1643T	p.S548F	11.5
P4	BCR	Missense	c.G153C	p.Q51H	16.1
	NPIPB2	Missense	c.C436A	p.L146I	10.7
	TRPM2	Missense	NM_001320352 c.C205T	p.P69S	16.8
P6	*IRF4*	Missense	c.A176G	p.K59R	23.1
	*IRF4*	Missense	c.G108T	p.K36N	15.7
	*IRF4*	Missense	c.G177T	p.K59N	20.9
	*IRF4*	Missense	c.G180C	p.Q60H	22.5
	*IRF4*	Missense	c.G181A	p.D61N	36
	*IRF4*	Missense	c.C54A	p.S18R	21.3
	*IRF4*	Missense	c.G38A	p.G13D	28.1
	*P2RY8*	Missense	c.C419T	p.A140V	11.4
	*KRAS*	Missense	c.G38A	p.G13D	27.8
	*CCND3*	Missense	c.A847G	p.T283A	23.1
	PCLO	Nonsense	c.C9742T	p.Q3248X	53
	PAPPA	Missense	c.G730T	p.A244S	11.6
	PSG9	Nonsense	NM_ 001301707 c.C664T	p.R222X	10.5
	PCNX2	Missense	c.G5207A	p.R1736Q	37
	PCID2	Missense	NM_001127202 c.C1025A	p.A342D	15.5
	CELSR3	Missense	c.T5168C	p.L1723P	11.2
	UHRF1BP1L	Missense	c.G4258T	p.D1420Y	13.4
	IGLL5	Missense	NM_001178126 c.C131T	p.A44V	13.1
	KIAA0895	Missense	NM_001199706 c.T365C	p.V122A	10.7
	COL5A2	Missense	c.C2426G	p.A809G	18.3
	DPYD	Missense	c.T1100G	p.F367C	21.9
	PCDH15	Missense	NM_001354420 c.G4565T	p.R1522	13.6
	CEP120	Missense	NM_001166226 c.T1202C	p.L401P	10.3
	TARBP1	Missense	c.G1687A	p.E563K	31
	NALCN	Missense	NM_001350750 c.C1874T	p.T625I	14.7

Patient	Gene	Effect	CDS change	Protein change	CADD phred
P1–1	*CARD11*	Missense	c.G338A	p.R113Q	15.5
	*CARD11*	Missense	c.A760G	p.K254E	21.4
	*GNA13*	Splicing	c.283+2_283+3insCAACGTGATCAAAGG	-	-
	DENND5A	Missense	NM_001348749 c.G590A	p.S197N	10.7
	ADCY2	Missense	c.G555C	p.E185D	10.1
	DSP	Missense	NM_001008844 c.G2968T	p.G990W	18.1
P1–2	*MECOM*	Missense	c.A1319T	NM_001105078 p.N440I	11.4
	MRC2	Missense	c.C4315T	p.R1439C	24.4
	AGPS	Missense	c.T831G	p.H277Q	13.8
	CLYBL	Missense	c.T383C	p.V128A	12.1
	VBP1	Missense	c.C62T	p.P21L	13.8
	SLITRK6	Missense	c.C1643T	p.S548F	11.5
P4	BCR	Missense	c.G153C	p.Q51H	16.1
	NPIPB2	Missense	c.C436A	p.L146I	10.7
	TRPM2	Missense	NM_001320352 c.C205T	p.P69S	16.8
P6	*IRF4*	Missense	c.A176G	p.K59R	23.1
	*IRF4*	Missense	c.G108T	p.K36N	15.7
	*IRF4*	Missense	c.G177T	p.K59N	20.9
	*IRF4*	Missense	c.G180C	p.Q60H	22.5
	*IRF4*	Missense	c.G181A	p.D61N	36
	*IRF4*	Missense	c.C54A	p.S18R	21.3
	*IRF4*	Missense	c.G38A	p.G13D	28.1
	*P2RY8*	Missense	c.C419T	p.A140V	11.4
	*KRAS*	Missense	c.G38A	p.G13D	27.8
	*CCND3*	Missense	c.A847G	p.T283A	23.1
	PCLO	Nonsense	c.C9742T	p.Q3248X	53
	PAPPA	Missense	c.G730T	p.A244S	11.6
	PSG9	Nonsense	NM_ 001301707 c.C664T	p.R222X	10.5
	PCNX2	Missense	c.G5207A	p.R1736Q	37
	PCID2	Missense	NM_001127202 c.C1025A	p.A342D	15.5
	CELSR3	Missense	c.T5168C	p.L1723P	11.2
	UHRF1BP1L	Missense	c.G4258T	p.D1420Y	13.4
	IGLL5	Missense	NM_001178126 c.C131T	p.A44V	13.1
	KIAA0895	Missense	NM_001199706 c.T365C	p.V122A	10.7
	COL5A2	Missense	c.C2426G	p.A809G	18.3
	DPYD	Missense	c.T1100G	p.F367C	21.9
	PCDH15	Missense	NM_001354420 c.G4565T	p.R1522	13.6
	CEP120	Missense	NM_001166226 c.T1202C	p.L401P	10.3
	TARBP1	Missense	c.G1687A	p.E563K	31
	NALCN	Missense	NM_001350750 c.C1874T	p.T625I	14.7

P1–1 and P1–2 refer to the first and second tumors from P1, respectively. CDS, coding DNA sequence; CADD, combined annotation–dependent depletion. Genes carrying variants considered pathogenic were shown in bold.

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