Table 1. Summary of recurrently mutated genes in our cases and a comparison with previously published studies.

	Genes	Accession	Variant nomenclature		SIFT score	Polyphen-2 score	Case no6.							Published
		number			prediction	prediction	1	2	3	4	5	6	7	Study
			Nucleotide change4	Amino acid change	consequences	consequences								7
ESTABLISHED:	NOTCH2	NM_024408	c.C7081T°	p.Q2361X	Damaging	Truncating					✓			[7,8]
Genes			c.6836delA§	p.H2279fs	Truncating	Truncating	✓
recurrently	MAP3K14	NM_003954	c.C200G*	p. A67G	Damaging	Probably damaging					✓			[8]
mutated	TNFAIP3	NM_006290	c.T1343A*	p.M448K	Tolerated	Truncating						✓		[4,5,8]
in SMZL1			c.C1681T*	p. P561S	Tolerated	Truncating						✓
			c.A328T*	p. T110S	Tolerated	Truncating				✓
	MLL2	NM_003482	c.2507_2508insC	p.Q836fs	Truncating	Truncating						✓		[8]
	SPEN	NM_015001	c.C5179T°	p.Q1727X	Tolerated	Truncating						✓		[8]
			c.10286_10289del§	p.3429_3430del	Truncating	Truncating						✓
NOVEL:	AMOTL1	NM_130847	c.G1270A*	p.A424T	Tolerated	Benign						✓		[8]
Recurrent	FAT4	NM_024582	c.G6628A*	p.A2210T	Tolerated	Benign	✓							[8]
genes across	FBXO11	NM_001190274	c.G1587C*	p.W529C	Damaging	Truncating				✓				[8]
studies2	PLA2G4D	NM_178034	c.23delG§	p.G8fs	Truncating	Truncating			✓					[8]
	TRRAP	NM_003496	c.367-10T>-^	Splicing5	Truncating	Truncating					✓			[8]
	USH2A	NM_206933	c.G7553C*	p.S2518T	Tolerated	Benign				✓				[8]
NOVEL:	CBFA2T3	NM_175931	c.C464T*	p.P155L	Damaging	Probably damaging					✓			Novel
recurrent			c.G1445A	p. S482N	Damaging	Probably damaging							✓
genes in our study3	CREBBP	NM_001079846	c.A4349G*	p.Y1450C	Damaging	Truncating					✓	✓		Novel

¹ Identifies those genes that have previously been shown to be targeted by recurrent mutations in SMZL. ² Shows those genes that were mutated in single SMZL cases in both our current study and in previously published work. ³ Shows the novel genes targeted by recurrent mutations in our study.

⁴ Identified non-synonymous (*), splice-site (^), frameshift (§) and stopgain (°) mutations

⁵ The TRRAP mutation in case 5 occurred within a splice-site and is predicted to resulted in aberrant splicing

⁶ Showed the presence (✓) and absence (white box) of each mutation in the patients in our series

⁷ Highlights the published studies that identified the mutations in each of the genes listed