The `data_mutations_extended.txt` file (genie version 15.0) contains four entries where the reference allele and the tumor allele are identical. Such mutations are nonetheless reported as missense mutations in the `Variant_Classification` column:
```
Hugo_Symbol Chromosome Start_Position End_Position Reference_Allele Tumor_Seq_Allele2 Variant_Classification
0 BCL2 18 60985749 60985751 AGG AGG Missense_Mutation
1 BCL2 18 60985749 60985751 AGG AGG Missense_Mutation
2 TERT 5 1295250 1295253 GAGG GAGG Missense_Mutation
3 INPP4B 4 143352409 143352411 CCA CCA Missense_Mutation
```
Created by Henrik Seidel henrik.seidel Hi @henrik.seidel ,
Thanks for catching this, and we will be including this in validation for the sites that upload data into the consortium and hopefully be fixed in future releases. This release will not be patched.
cc @ProjectGENIEAdmins
Drop files to upload
data_mutations_extended.txt contains mutations that are no change page is loading…