Table 2. Representative mutated genes.

UPN	Age (years)	Gene	Function	Amino acid change	Chr	Ref	Obs	VAF PB
#4	70	ASXL1	Indel	NM_015338:p.H630f s	chr20	CACCACTGCCATAGAGAGGCGGC	—	0.17
#12	53	ASXL1	Indel	NM_015338:p.H918fs	chr20	-	A	0.29
#14	63	ASXL1	Nonsense	NM_015338:p.Q748X	chr20	C	T	0.50
#10	66	AKT1	Missense	NM_001014431:p.I180F	chr14	T	A	0.51
#15	76	TET2	Nonsense	NM_001127208:p.R544X	chr4	C	T	0.45
#7	44	TET3	Missense	NM_144993:p.A128T	chr2	G	A	0.51
#17	46	RUNX1	Nonsense	NM_001001890:p.S114X	chr21	G	T	0.15
#18	65	PRDM9	Indel	NM_020227:p.11_12del	chr5	AGA	—	0.33
#10	66	COL7A1	Nonsense	NM_000094:p.K1859X	chr3	T	A	0.50
#12	53	COL7A1	Missense	NM_000094:p.E1167K	chr3	C	T	0.40
#15	76	CSMD2	Missense	NM_052896:p.V808I	chr1	C	T	0.51
#20	51	CSMD2	Missense	NM_052896:p.T27M	chr1	G	A	0.38

Abbreviations: Chr, chromosome; PB, peripheral blood cells; Ref, reference; Obs, observation; VAF, variant allele frequency.