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Tools that integrate DNA-seq and RNA-seq data to help interpret mutations in a regulatory and splicing context.


  • Identify evidence for aberrant splicing in RNA reads near a list of variants.
  • Extract exon-exon junctions from a RNAseq BAM file.
  • Annotate exon-exon junctions with information from a known transcriptome.
  • Annotate variants with splice-region(the definition of this region is configurable) annotations.

Hardware requirements

RegTools requires only a standard computer with enough RAM to support the in-memory operations.

Software requirements

OS Requirements This package is supported for macOS and Linux. The package has been tested on the following systems:

macOS: macOS 10.12 (Sierra), macOS 10.13 (High Sierra), macOS 10.14 (Mojave), macOS 10.15 (Catalina), macOS 11 (Big Sur), macOS 12 (Monterey)

Linux: Ubuntu 16.04, Ubuntu 18.04, Ubuntu 20.04


Clone and install regtools by running the following:

    git clone
    cd regtools/
    mkdir build
    cd build/
    cmake ..

Installation should take 1-5 minutes.

For convienience we also maintain a docker image available at


    regtools --help

If one wishes to test their installation, we include test data under test_data.

Here's an example command using that data along with the example output. This should run in under a minute.

regtools cis-splice-effects identify -s RF -e 10 -i 10 test_data/HCC1395_chr22.vcf.gz test_data/HCC1395_tumor.bam test_data/chr22_with_ERCC92.fa test_data/chr22_with_ERCC92.gtf

Variant 22	42129188	42129189	-1
Variant region is 22:42128784-42130813

chrom	start	end	name	score	strand	splice_site	acceptors_skipped	exons_skipped	donors_skipped	anchor	known_donor	known_acceptor	known_junction	gene_names	gene_ids	transcripts	variant_info
position = 22:42125408-42125409
position = 22:42130565-42130566
22	42125407	42130567	JUNC00000001	4	+	GT-AG	0	0	0	D	1	0	0	NDUFA6-AS1	ENSG00000237037	ENST00000439129	22:42129188-42129189
position = 22:42128881-42128882
position = 22:42129670-42129671
22	42128880	42129672	JUNC00000002	3	+	GT-AG	0	0	0	N	0	0	0	NA	NA	NA	22:42129188-42129189
position = 22:42128944-42128945
position = 22:42129031-42129032
22	42128943	42129033	JUNC00000003	4	-	GT-GG	1	0	0	D	1	0	0	CYP2D6	ENSG00000100197	ENST00000360608,ENST00000389970,ENST00000488442	22:42129188-42129189
position = 22:42129783-42129784
position = 22:42143453-42143454
22	42129782	42143455	JUNC00000004	2	+	GC-AG	9	8	9	N	0	0	0	NA	NA	NA	22:42129188-42129189
position = 22:42130224-42130225
position = 22:42130565-42130566
22	42130223	42130567	JUNC00000005	2	+	GT-AG	0	0	0	N	0	0	0	NA	NA	NA	22:42129188-42129189


  • Issue Tracker:
  • Source Code:


If you have issues using the project, please let us know. We have a mailing list located at: and the forum is here -!forum/regtools. Github issues are another option to contact the project about potential bugs.


The documentation for the project is hosted on Read the Docs.

If you would like to build the documentation locally, please install mkdocs, pip install mkdocs --user should work on most machines. Then run mkdocs serve from within the regtools base directory.


Regtools uses several open-source libraries. We would like to thank the developers of htslib and bedtools. We would also like to thank Travis Abbott for useful comments and code.


The project is licensed under the MIT license.

Stable release with DOI



Integrate DNA-seq and RNA-seq data to identify mutations that are associated with regulatory effects on gene expression.







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