Table 2.

Variants detected in iMCD-TAFRO patients.

	Gene	Protein change	Allele Freq.	Chr.	Start Pos.	End pos.	Ref	Var	SIFT prediction	Polyphen-2 prediction
Patient 1	MAP2K2 (MEK2)	P128L	0.10	19	4110574	4110574	G	A	Damaging	Probably damaging
	AR	A646D	0.99	X	66931295	66931295	C	A	Tolerated	Benign
	TCF3	N347T	0.49	19	1621020	1621020	T	G	Tolerated	Probably damaging
	ARID2	T1193A	0.46	12	46245483	46245483	A	G	Tolerated	Benign
Patient 2	KMT2B (MLL4)	E373del	0.40	19	36211355	36211357	AAG	A	-	-
	MPEG1	L221I	0.50	11	58979678	58979678	G	T	Tolerated	Benign
	RUNX1	G60C	0.48	21	36259232	36259232	C	A	Damaging	Probably damaging
Patient 3	EGFR	H145R	0.46	7	55214308	55214308	A	G	Tolerated	Benign
	EPHA3	S662T	0.52	3	89462392	89462392	T	G	Tolerated	Benign
	RARA	G248D	0.53	17	38508695	38508695	G	A	Damaging	Probably damaging
	SOX9	T316A	0.44	17	70119944	70119944	A	A	Tolerated	Benign
	SESN1	H47R	0.48	6	109415137	109415137	T	C	Tolerated	Benign
	SETD2	G1649E	0.46	3	47143017	47143017	C	T	Damaging	Probably damaging
	ANKRD11	A2284V	0.47	16	89346099	89346099	G	A	(not scored)	Benign
	TET3	V1137I	0.49	2	74327729	74327729	G	A	Tolerated	Benign
	ZFHX3	Q3203_Q3204del	0.28	16	72822564	72822569	TGCTGC	-	-	-