Table 2 Molecular details of deleterious ABL1 missense variants.

General	Patient	1	2	3	4	5	6
Molecular labels	Position (hg19/GRCh37)	9:133748348	9:133748348	9:133753828	9:133755890	9:133755898	9:133738274
	Exon Number	6	6	8	10	10	4
	Transcript (RefSeq)	NM_007313.2	NM_007313.2	NM_007313.2	NM_007313.2	NM_007313.2	NM_007313.2
	c.	c.1066G > A	c.1066G > A	c.1354G > A	c.1574T > C	c.1582G > A	c.731T > C
	p.	p.(Ala356Thr)	p.(Ala356Thr)	p.(Ala452Thr)	p.(Val525Ala)	p.(Glu528Lys)	p.(Val244Ala)
Conservation	Nucleotide (phyloP)	Highly conserved 6.067	Highly conserved 6.067	Highly conserved 4.161	Highly conserved 4.998	Highly conserved 6.049	Highly conserved 4.736
Conservation	Amino Acid Conservation	D. melanogaster	D. melanogaster	C. elegans	X. tropicalis	D. rerio	F. catus
Pathogenicity	ExAC Allele Frequency	0	0	0	0	0	0
	Missense Tolerance Ratio	0.846	0.846	0.657	0.584	0.583	0.6
	SIFT	Damaging 0.019	Damaging 0.019	Damaging 0.013	Damaging 0.007	Damaging 0.048	Damaging 0.02
	Mutation Taster	Disease causing P: 0.999	Disease causing P: 0.999	Disease causing P: 0.999	Disease causing P: 0.999	Disease causing P: 0.999	Disease causing P: 0.998
	CADD	31	31	27	28.5	33	27.3
	ACMG Classification	Pathogenic	Pathogenic	Likely Pathogenic	Likely pathogenic	Likely pathogenic	Uncertain^a
Inheritance	Inheritance	De novo	De novo	De novo	De novo	De novo	Unknown
Inheritance	Zygosity	Heterozygous	Heterozygous	Heterozygous	Heterozygous	Heterozygous	Heterozygous

^aThe variant in patient 6 would be classified as “Likely pathogenic” if PP4 were applied (highly specific phenotype for a disease with a single genetic aetiology) or “Pathogenic” if PS3 were applied in light of the experimental findings in this paper (functional studies supportive of a damaging effect).

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