Table 3 Selected novel singleton... | American Society of Hematology

Table 3

Selected novel singleton mutations

Gene	Sample		Class	Reference allele	Mutant allele	AA change	Known mutation
Gene	ID	R group	Class	Reference allele	Mutant allele	AA change	Known mutation
BLNK	9906_099	7	Missense	G	T	H431N	—
BRAF	9906_221	3	Missense	C	T	G30D	—
CTCF	9906_003	2	Missense	G	A	R377H	—
IKZF3	9906_186	7	Frameshift	-----	CCCCC	R91fs	—
JAK3	9906_012	7	Missense	A	G	S789P	COSMIC
MYBL2	9906_229	1	Missense	G	A	G211S	—
NR3C1	9906_108	7	Frameshift	-	C	S114fs	—
NR3C2	9906_046	2	Missense	G	A	R80W	—
RB1	9906_086	3	Frameshift	-	C	A147fs	—
SGK269	9906_097	1	Frameshift	C	-	V73fs	—
SLC25A6	9906_133	6	Frameshift	C	-	M282fs	—
TCF12	9906_082	7	Missense	C	T	S422F	—
TRIM13	9906_214	7	Missense	G	A	R38K	—

Gene	Sample		Class	Reference allele	Mutant allele	AA change	Known mutation
Gene	ID	R group	Class	Reference allele	Mutant allele	AA change	Known mutation
BLNK	9906_099	7	Missense	G	T	H431N	—
BRAF	9906_221	3	Missense	C	T	G30D	—
CTCF	9906_003	2	Missense	G	A	R377H	—
IKZF3	9906_186	7	Frameshift	-----	CCCCC	R91fs	—
JAK3	9906_012	7	Missense	A	G	S789P	COSMIC
MYBL2	9906_229	1	Missense	G	A	G211S	—
NR3C1	9906_108	7	Frameshift	-	C	S114fs	—
NR3C2	9906_046	2	Missense	G	A	R80W	—
RB1	9906_086	3	Frameshift	-	C	A147fs	—
SGK269	9906_097	1	Frameshift	C	-	V73fs	—
SLC25A6	9906_133	6	Frameshift	C	-	M282fs	—
TCF12	9906_082	7	Missense	C	T	S422F	—
TRIM13	9906_214	7	Missense	G	A	R38K	—

Selected singleton mutations newly identified in this study. A full list of mutations is provided in supplemental Table 3.