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. 2019 May 20;47(W1):W106–W113. doi: 10.1093/nar/gkz327

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© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Overview of features that can be assessed in a single RegulationSpotter VCF analysis run. Depending upon a variant's localisation, different aspects are analysed either by RegulationSpotter or MutationTaster. ^(*) It should be noted that intragenic variants are always additionally analysed by RegulationSpotter to account for the possible regulatory effects of e.g. non-coding variants. UTR: untranslated region; CDS: coding sequence; TSS: transcription start site; NMD: nonsense-mediated mRNA decay.