Table 1 Confirmed tumor-specific somatic... | American Society of Hematology

Table 1

Confirmed tumor-specific somatic mutations identified by exome sequencing in 5 patients with biCEBPA-mutated AML

Patient	Gene	Genomic position (hg18)	Reference genotype	Variant genotype	Amino acid	Ensembl transcript	Read depth in AML	Variant frequency, %
1	RBM39	chr20:33765551	G/G	G/A	R356C	ENST00000361162	92	40.22
	IKZF1	chr7:50417782	G/G	G/A	G158S	ENST00000359197	37	43.24
	FBLN7	chr2:112639148	G/G	G/A	R112Q	ENST00000331203	36	25
	GATA2	chr3:129685449	G/G	G/C	L321V	ENST00000341105	22	40.91
	KRAS	chr12:25289548	C/C	C/T	G13D	ENST00000256078	28	21.43

2	GALNT10	chr5:153769409	G/G	G/A	R427H	ENST00000297107	85	40
	STAG2	chrX:123006890	-/A	-/-C	L221Tfs	ENST00000371145	85	83.5

3	GABRE	chrX:150874947	-/G	-/A	R276W	ENST00000370328	57	96.49
	ZNF318	chr6:43431833	G/G	G/A	S406F	ENST00000318149	44	40.91
	STK19	chr6_cox_hap1:3386347	A/A	A/T	T76S	ENST00000375333	13	46.15
	DNMT3A	chr2:25323985	G/G	*/+A	G332Rfs	ENST00000321117	51	27.45

4	TRPM8	chr2:234543699	C/C	C/T	L749F	ENST00000324695	121	48.76
	AFTPH	chr2:64633197	C/C	C/T	T362I	ENST00000238855	110	45.45
	PSD3	chr8:18703129	G/G	G/A	R118X	ENST00000286485	76	50
	DSC1	chr18:26979591	G/G	G/A	T307I	ENST00000257198	83	44.58
	ASAP3	chr1:23632600	G/G	G/A	Q678X	ENST00000336689	78	34.62
	B4GALNT1	chr12:56306985	G/G	G/A	L471F	ENST00000341156	24	54.17
	FAM117A	chr17:45152254	G/G	G/A	A192V	ENST00000240364	12	50
	DNMT3A	chr2:25310746	C/C	C/T	R882H	ENST00000321117	32	46.88

5	FLJ35848	chr17:40099629	G/G	G/C	G275A	ENST00000409122	177	49.72
	PCDHA13	chr5:140243097	T/T	T/C	S354P	ENST00000289272	92	40.22
	NEUROD4	chr12:53706752	C/C	C/T	R88X	ENST00000242994	78	42.31
	GATA2	chr3:129685421	C/C	C/T	R330Q	ENST00000341105	17	58.82

Patient	Gene	Genomic position (hg18)	Reference genotype	Variant genotype	Amino acid	Ensembl transcript	Read depth in AML	Variant frequency, %
1	RBM39	chr20:33765551	G/G	G/A	R356C	ENST00000361162	92	40.22
	IKZF1	chr7:50417782	G/G	G/A	G158S	ENST00000359197	37	43.24
	FBLN7	chr2:112639148	G/G	G/A	R112Q	ENST00000331203	36	25
	GATA2	chr3:129685449	G/G	G/C	L321V	ENST00000341105	22	40.91
	KRAS	chr12:25289548	C/C	C/T	G13D	ENST00000256078	28	21.43

2	GALNT10	chr5:153769409	G/G	G/A	R427H	ENST00000297107	85	40
	STAG2	chrX:123006890	-/A	-/-C	L221Tfs	ENST00000371145	85	83.5

3	GABRE	chrX:150874947	-/G	-/A	R276W	ENST00000370328	57	96.49
	ZNF318	chr6:43431833	G/G	G/A	S406F	ENST00000318149	44	40.91
	STK19	chr6_cox_hap1:3386347	A/A	A/T	T76S	ENST00000375333	13	46.15
	DNMT3A	chr2:25323985	G/G	*/+A	G332Rfs	ENST00000321117	51	27.45

4	TRPM8	chr2:234543699	C/C	C/T	L749F	ENST00000324695	121	48.76
	AFTPH	chr2:64633197	C/C	C/T	T362I	ENST00000238855	110	45.45
	PSD3	chr8:18703129	G/G	G/A	R118X	ENST00000286485	76	50
	DSC1	chr18:26979591	G/G	G/A	T307I	ENST00000257198	83	44.58
	ASAP3	chr1:23632600	G/G	G/A	Q678X	ENST00000336689	78	34.62
	B4GALNT1	chr12:56306985	G/G	G/A	L471F	ENST00000341156	24	54.17
	FAM117A	chr17:45152254	G/G	G/A	A192V	ENST00000240364	12	50
	DNMT3A	chr2:25310746	C/C	C/T	R882H	ENST00000321117	32	46.88

5	FLJ35848	chr17:40099629	G/G	G/C	G275A	ENST00000409122	177	49.72
	PCDHA13	chr5:140243097	T/T	T/C	S354P	ENST00000289272	92	40.22
	NEUROD4	chr12:53706752	C/C	C/T	R88X	ENST00000242994	78	42.31
	GATA2	chr3:129685421	C/C	C/T	R330Q	ENST00000341105	17	58.82

indicates wild-type allele.