Annotate VCF - MitImpact

Annotate a VCF file

Upload a VCF and download it back with MitImpact annotations on its mitochondrial variants.

VCF file

Mitochondrial variants (chrM / MT) are matched by position, reference and alternate allele. Other lines pass through unchanged. Max 32 MB.

Output format

Annotated VCF (original file with MI_* tags added to INFO)

Tab-separated table (just CHROM/POS/REF/ALT plus the MitImpact annotations, one row per mitochondrial variant)

What gets added

For each matched mitochondrial variant, MitImpact appends the following tags to the INFO column (namespaced MI_*):

MI_gene MI_moltype MI_aa_ref MI_aa_alt MI_aa_pos MI_APOGEE2 MI_APOGEE2_score MI_nAPOGEE MI_nAPOGEE_score MI_ClinVar_CLNSIG MI_ClinVar_CLNDN MI_MITOMAP_status MI_HelixMTdb_AF_hom MI_HelixMTdb_AF_het MI_gnomAD_AF_hom MI_gnomAD_AF_het MI_ToMMo_61KJPN_AF MI_dbSNP MI_HGVS