Table 4.

List of genes and variants cross-validated with PCR-Sanger sequencing and their confirmation status.

Case number	Gene	Sample type	Nucleotide change	AA change	Mutation detection	NGS VAF percentage (%)
Case-11	CREBBP	FFPE tDNA	C > T	C1237Y	+	27
Case-14	HIST1H1E	Granulocyte	C > T	P131S	–	0
Case-14	HIST1H1E	FFPE tDNA	C > T	P131S	+	67
Case-14	HIST1H1E	cfDNA	C > T	P131S	+	34
Case-14	ARID1A	Granulocyte	C > T	R1722*	–	0
Case-14	ARID1A	FFPE tDNA	C > T	R1722*	+	33
Case-14	ARID1A	cfDNA	C > T	R1722*	+	20
Case-11	STAT6	Granulocyte	T > A	D523V	–	0
Case-11	STAT6	FFPE tDNA	T > A	D523V	+	45
Case-09	CTSS	Granulocyte	A > C	Y132D	–	0
Case-09	CTSS	FFPE tDNA	A > C	Y132D	+	39
Case-09	HIST1H1E	Granulocyte	G > C	A65P	–	0
Case-09	HIST1H1E	FFPE tDNA	G > C	A65P	+	53
Case-09	ATP6AP1	Granulocyte	G > A	G363R	–	0
Case-09	ATP6AP1	FFPE tDNA	G > A	G363R	+	45
Case-11	IRF8	Granulocyte	T > C	Y23H	–	0
Case-11	IRF8	FFPE tDNA	T > C	Y23H	+	31
Case-05	KMT2D	Granulocyte	G > A	R2417*	–	0
Case-05	KMT2D	FFPE tDNA	G > A	R2417*	+	33

AA, Amino acid.

NGS, Next-generation sequencing.

VAF, Variant allele fraction.

FFPE tDNA, Formalin-fixed paraffin-embedded tumor tissue DNA.

Granulocyte, Granulocyte gDNA.