Table 2 List of somatic mutations... | American Society of Hematology

Table 2

List of somatic mutations identified in the MDS index patient (UPN11)

Gene	Exonic function	Amino acid change	Chromosome	Position	Reference	Observed	Tumor (reads Ref/Obs)	CD3⁺ T cells (reads Ref/Obs)
ACOX1	Nonsynonymous SNV	NM_001185039:c.G1534T:p.A512S	17	73945378	C	A	100/49	195/1
ZNF354C	Nonsynonymous SNV	NM_014594:c.G821T:p.C274F	5	178506254	G	T	74/27	152/0
DPF2	Stopgain SNV	NM_006268:c.C661T:p.R221X	11	65113160	C	T	9/8	70/0
RUNX1	Nonsynonymous SNV	NM_001001890:c.C341T:p.S114L	21	36252940	G	A	40/24	44/0
BCOR	Stopgain SNV	NM_001123384:c.C3433T:p.R1163X	X	39923604	G	A	2/8	17/0
GPR179	Nonsynonymous SNV	NM_001004334:c.G5980T:p.A1994S	17	36483472	C	A	147/14	629/15
STAG2	Stopgain SNV	NM_006603:c.C775T:p.R259X	X	123181311	C	T	19/9	29/0
EIF5B	Nonsynonymous SNV	NM_015904:c.G895A:p.A299T	2	99978259	G	A	32/9	32/0

Gene	Exonic function	Amino acid change	Chromosome	Position	Reference	Observed	Tumor (reads Ref/Obs)	CD3⁺ T cells (reads Ref/Obs)
ACOX1	Nonsynonymous SNV	NM_001185039:c.G1534T:p.A512S	17	73945378	C	A	100/49	195/1
ZNF354C	Nonsynonymous SNV	NM_014594:c.G821T:p.C274F	5	178506254	G	T	74/27	152/0
DPF2	Stopgain SNV	NM_006268:c.C661T:p.R221X	11	65113160	C	T	9/8	70/0
RUNX1	Nonsynonymous SNV	NM_001001890:c.C341T:p.S114L	21	36252940	G	A	40/24	44/0
BCOR	Stopgain SNV	NM_001123384:c.C3433T:p.R1163X	X	39923604	G	A	2/8	17/0
GPR179	Nonsynonymous SNV	NM_001004334:c.G5980T:p.A1994S	17	36483472	C	A	147/14	629/15
STAG2	Stopgain SNV	NM_006603:c.C775T:p.R259X	X	123181311	C	T	19/9	29/0
EIF5B	Nonsynonymous SNV	NM_015904:c.G895A:p.A299T	2	99978259	G	A	32/9	32/0

Ref/Obs, reference/observed; SNV, single-nucleotide variant.