Table 1 Classification of point mutations detected in 66 frozen WT samples.

From: Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

ID	Gene ID	Protein change	Variant type	dbSNP	NHLBI ESP	Polyphen2	SIFT	Mutation Taster	Final classification
ACC_8	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
	TP53	p.P72A	Missense			B	T	P	B
	FBXW7	p.R35C	Missense			PD	D	DC	PDA
COG_4181	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
COG_1124	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
COG_970	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
COG_1144	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
ACC_12	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
COG_128	DROSHA	p.E1147K	Missense			PD	D	DC	PDA
COG_1110	DROSHA	p.E993K	Missense			PD	D	DC	PDA
COG_526	DROSHA	p.P211T	Missense	rs202227062	T=1; G=12127	B	D	P	PDA
COG_1108	DROSHA	p.Q46*	Nonsense						PDA
	DROSHA	p.R414*	Nonsense						PDA
#ACCp_84	DROSHA	p.D1151G	Missense			PD	D	DC	PDA
#ACCp_151	DROSHA	p.D1151G	Missense			PD	D	DC	PDA
COG_032	DGCR8	p.E518K	Missense			PD	D	DC	PDA
	FBXW7	p.E117del	In-frame del						PDA
COG_353	DGCR8	p.Y721H	Missense			POD	T	DC	PDA
COG_219	DGCR8	p.S92R	Missense	rs201435288	A=1; T=13005	B	D	DC	PDA
COG_4159	DGCR8	p.A558T	Missense			B	D	DC	PDA
ACC_15	DGCR8	p.G55S	Missense			PD	D	DC	PDA
COG_4057	DGCR8	p.R32fs	Frameshift dup						PDA
COG_117	DICER1	p.I85M	Missense			B	T	DC	PDA
	WT1	p.P183fs	Frameshift ins						PDA
	CTNNB1	p.Y333F	Missense			PD	D	DC	PDA
ACC_13	DICER1	p.D1810N	Missense			PD	D	DC	PDA
COG_396	DICER1	p.Q48E	Missense			PD	T	DC	PDA
ACC_4	XPO5	p.V832I	Missense			B	T	P	B
	TARBP2	p.R296H	Missense			B	T	P	B
COG_2050	TARBP2	p.R353fs	Frameshift del						PDA
ACC_5	WT1	p.D367_splice	Splice site						PDA
	CTNNB1	p.T41A	Missense	rs121913412	ND	POD	D	DC	PDA
ACC_7	CTNNB1	p.N387K	Missense			PD	D	DC	PDA
ACC_1	CTNNB1	p.S45F	Missense	rs121913409	ND	PD	D	DC	PDA
COG_2081	CTNNB1	p.S45P	Missense	rs121913407	ND	PD	D	DC	PDA
COG_6000	WT1	p.K316fs	Frameshift ins						PDA
	WT1	p.F391fs	Frameshift Iins						PDA
COG_1290	WT1	p.V379fs	Frameshift del						PDA
COG_031	WTX	p.D354fs	Frameshift del						PDA
COG_4135	WTX	p.R353*	Nonsense	rs137852216	ND				PDA
COG_1065	WTX	p.R497*	Nonsense						PDA
ACC_10	TP53	p.339_340EM>V	In-frame del						PDA
COG_497	DIS3L2	p.Q230*	Nonsense						PDA
COG_4196	DIS3L2	p.R483G	Missense			PD	D	DC	PDA

B, benign; D, damaging; DC, disease causing; P, polymorphism; PD, probably damaging; PDA, possibly disease-associated; POD, possibly damaging; T, tolerated; WT, Wilms tumour.
NHLBI ESP, NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/)—the absolute frequency of the variant allele followed by the reference allele are shown; ND, No variant was detected in this region in this database.

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Table 1 Classification of point mutations detected in 66 frozen WT samples.

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