# KM12 RKO mutation on CBR3

**URL:** <https://forum.depmap.org/t/km12-rko-mutation-on-cbr3/768>\
**Category:** Issues and Bugs\
**Tags:** omics\
**Created:** [July 22, 2021, 1:15pm UTC](https://forum.depmap.org/t/km12-rko-mutation-on-cbr3/768 "2021-07-22T13:15:59Z")\
**Posts on this page:** 2\
**Page:** 1

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**Author:** ![Sebastiano](https://yyz1.discourse-cdn.com/flex035/user_avatar/forum.depmap.org/sebastiano/32/279_2.png) [@Sebastiano](https://forum.depmap.org/u/Sebastiano)\
**Post date:** [July 22, 2021, 1:15pm UTC](https://forum.depmap.org/t/km12-rko-mutation-on-cbr3/768/1 "2021-07-22T13:15:59Z")

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Hi  
I have a question about KM12 and RKO cell line mutation data on CBR3 gene.  
Using data reported in “CCLE\_mutations.csv” in 21Q2 version I noted that this cell lines are not mutated.  
Using bam files (from RNASeq) reported on GDC data portal  
RKO: [https://portal.gdc.cancer.gov/legacy-archive/files/c88b8503-73ce-4c8e-89a9-498b614037ae](https://portal.gdc.cancer.gov/legacy-archive/files/c88b8503-73ce-4c8e-89a9-498b614037ae)  
KM12: [https://portal.gdc.cancer.gov/legacy-archive/files/02b56f2a-6813-4afe-88be-50c00ed9db55](https://portal.gdc.cancer.gov/legacy-archive/files/02b56f2a-6813-4afe-88be-50c00ed9db55)  
I inspect gene by IGV and I find a mutation on CBR3 p.L84V that I validated also with Sanger

 ![image](https://canada1.discourse-cdn.com/flex035/uploads/depmap/original/1X/209472d9f101ba7e7e1939198d4b5fb49bea083b.png)  
So my question is why this mutation is not reported in KM12 and RKO in CCLE\_mutations.csv?

Thanks

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<div class="post-metadata">

**Author:** ![jnoorbak](https://yyz1.discourse-cdn.com/flex035/user_avatar/forum.depmap.org/jnoorbak/32/12_2.png) [@jnoorbak](https://forum.depmap.org/u/jnoorbak)\
**Post date:** [July 26, 2021, 8:28pm UTC](https://forum.depmap.org/t/km12-rko-mutation-on-cbr3/768/2 "2021-07-26T20:28:16Z")

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Hi. This seems to be a common germline variant:  
[https://www.ncbi.nlm.nih.gov/snp/rs9282628?horizontal\_tab=true](https://www.ncbi.nlm.nih.gov/snp/rs9282628?horizontal_tab=true)

We filter out common variants in our pipelines. For the CCLE subset which has bam files publicly available we are considering releasing the germline data in the near future, but unfortunately this data is not available on the portal yet.