Genomic region

You can provide custom annotation information for specific regions of interest in the genome when you import a genomic region annotation source file.

• The genomic region annotation source file must be a .txt format file with four, tab-separated columns. Columns must list a chromosome number, start value, end value, and annotation values.

• Enter custom annotations in the Annotation value column of the file, as key-value pairs separated by semi-colons.

The information in your input genomic region annotation source file is used in the following ways in your analysis results:

• In the Analysis Results screen. In the downloaded TSV variant files, information from the Annotation values column is added to matching variants in the analysis results.

• In the Analysis Results screen, you can create a filter based on the first key-value pair that is shown in the Annotations column. Only the first key-value pair can be used as a filter chain.

In this example file, fld1=abc is the first key-value pair.

#CHROM	Start	End	Annotation values
chr1	000000	000001	fld1=abc;fld2=123;fld3=this
chr1	000001	000002	fld1=abd;fld2=124;fld3=that
chr1	000002	000003	fld1=abe;fld2=125;fld3=this
chr1	000003	000004	fld1=abf;fld2=126;fld3=that
chr1	000004	000005	fld1=abg;fld2=127;fld3=this
chr1	000005	000006	fld1=abh;fld2=128;fld3=that

The hit level for a genomic region annotation source is not configurable and is always set to overlap.

To import a genomic region custom annotation, see t_Import new or custom annotation sources_IR