Mitochondrial genome (mtDNA) constraint field descriptions

Gene symbol and coordinates, and the observed and expected sum maximum heteroplasmy of SNVs in the gene in gnomAD v4.1, observed:expected ratio, and lower and upper bounds of the 90% confidence interval (CI) around the ratio are listed, including for each major class of protein variation (synonymous, missense, stop gain) for protein genes.

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

-Symbol: Gene name
-Start_position: The chrM start coordinate of the gene
-End_position: The chrM end coordinate of the gene
-Consequence: The type of variant consequence for which constraint is calculated (e.g., synonymous, missense, stop gain, RNA_variant)
-Observed: Observed sum maximum heteroplasmy of variants with the specified consequence type in the gene
-Expected: Expected sum maximum heteroplasmy of variants with the specified consequence type in the gene, 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