Mitochondrial genome (mtDNA) regional constraint field descriptions

Gene symbol and coordinates of regional constraint, and the observed and expected sum maximum heteroplasmy of SNVs in the region in gnomAD v4.1, observed:expected ratio, and lower and upper bounds of the 90% confidence interval (CI) around the ratio are listed. Note this represents regional missense constraint for protein genes, and regional constraint for RNA variants in rRNA genes. 

Descriptions of columns in the gnomAD v4 mtDNA regional constraint metrics tsv:

-Symbol: Gene name
-Start_position: The chrM start coordinate of the gene
-End_position: The chrM end coordinate of the gene
-Protein_residue_start: The position of the protein residue where the regional constraint interval begins
-Protein_residue_end: The position of the protein residue where the regional constraint interval ends
-Observed: Observed sum maximum heteroplasmy of variants with the specified consequence type in the gene (i.e. missense for protein genes, and all single nucleotide variants for rRNA genes)
-Expected: Expected sum maximum heteroplasmy of variants with the specified consequence type in the gene (i.e. missense for protein genes, and all single nucleotide variants for rRNA genes), based on a mutational model
-obs:exp: The observed-to-expected ratio, calculated as the observed divided by the expected for the specified consequence type
-Lower_CI: The lower bound of 90% confidence interval for the obs:exp ratio
-Upper_CI: The upper bound of 90% confidence interval for the obs:exp ratio