I grepped out a position 12_111803962_G_A
from the CADD database and it returned this
12_111803962_G_A 32 Intergenic DOWNSTREAM ENSG00000274697 ENST00000617899
12_111803962_G_A 32 CodingTranscript NON_SYNONYMOUS ENSG00000111275 ENST00000261733
I'm confused as to why there are multiple lines for this specific mutation.
If I look it up on NBCI, then it says the mutation is in the ALDH2
gene, as expected. This maps to ENSG00000111275
which is the second entry in my grep results above. However, the first entry maps to ENSG00000274697
which is a different gene, MIR6761
, which I believe is next door to ALDH2
.
This seems very confusing to me - the position 12_111803962 isn't in the MIR6761
gene, so why does it map to there?