Identification of genomic features in the classification of loss- and gain-of-function mutation

Table 1 Input format example.

REF	SUB	TYPE	SCORE	SL	PD	Class
A	G	Missense	1.78	Cell membrane	Cadherin	GoF
T	G	Missense	3.62	Isoform2	SelR	LoF
T	A	Missense	-1.505	Apical cell membrane	ASC	LoF

Six features were used: the reference allele (REF), the substituted allele (SUB), the mutation type (TYPE), the mutation impact (SCORE), the subcellular location (SL) and the protein domain (PD).

ISSN: 1472-6947