Fig. 2
From: BigQ: a NoSQL based framework to handle genomic variants in i2b2
Example of annotated variants in JSON format. Two variants, represented in VCF format, are identified by standard attributes (reference genome, chromosome, variant position and nucleotide changes). The annotation step finds out that one variant falls in an exon causing an amino acid substitution at the protein level (non-synonymous) while the other is located in a transcript splicing site. The two variants generate two different JSON objects, characterized by different attributes. Differences between JSONs are highlighted in bold