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• HGVS representation of intronic variants
  Just stumbled across this post by the HGVS Facebook page: Even though intronic variants are repr...
• Variants in Exon or Intron
  After getting the variants using gatk pipeline, how can I know if the variant is in an exon or in...
• sequence variant notation and formatting
  I am trying to connect a database of sequence variants with information on dna and protein level ...
• Why is HGVS notation not available for some variants?
  I have observed that [VEP online (GRCH37)][1] does not produce HGVS notation for some variants. ...
• (Waiting on OP) human genome intronic variants
  From where i can find the data regarding intronic variants in human genome. Thanks in advance
• Intronic Variant Filtering
  Hello all, I want to filter variants based on their genomic location. For example RSID rs1086380...
• Conservation score for intronic variants
  Dear All, Has anyone worked on finding conservation scores for intronic variants. I am a basic b...
• interpretation of intronic variant detected by WES
  Hi I detected a variant in the intron of a gene that is predicted by MutationFinder to affect s...
• Segment the genome in an unbiased way
  Hi there! I am analysing Hi-C experiments and I'd like to annotate the genome (i.e. Enhancers, p...
• Codon change from HGVS.c notation
  The new version of SnpEff changed the original EFF annotation standard to ANN. The EFF field in t...
• Protein variant notation for an inserted stop codon?
  How do I annotate the protein effect of an in-frame insertion of a "TAG" stop codon inside a cDNA...
• Differences in HGVS notation
  Hello, I am trying to understand why these two variants are not the same: - NM_153818.1:c.927_9...
• Confusing HGVS notation
  I have this variant `c.828-4A>T` (say at chr9:3434923) and I am trying to understand what th...
• Genomic coordinates from traditional HGVS variants
  Does anyone know of a reliable workflow to convert traditional/deprecated HGVS variants such as "...
• What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
  Greetings, I'm a bit new to HGVS, but something seems wrong here. The CDC Hemophilia Mutation P...
• How to convert intronic variants with IVS nomenclatures to their respective nucleotide positions?
  I have few intronic novel variants for which I want to extract the genomic positions using Mutaly...
• Semantic verification of variants
  Hi, I am looking to verify if a list of variants make semantic sense. This would include checks ...
• Manual annotation of complex indel in VCF
  Hi, everyone! I've encountered complex variant of FMR1. It consist of both 157 bp deletion and 7...
• SPANR result interpretation
  Hi, I have an intronic variant which lies ~70bp upstream of an exon and I have used splicing-bas...