Skip to content

Commit

Permalink
Create SnpSift_exercise_KEY.md
Browse files Browse the repository at this point in the history
  • Loading branch information
Gammerdinger authored Jun 4, 2024
1 parent 8a527e3 commit 90e7507
Showing 1 changed file with 42 additions and 0 deletions.
42 changes: 42 additions & 0 deletions lessons/SnpSift_exercise_KEY.md
Original file line number Diff line number Diff line change
@@ -0,0 +1,42 @@
---
title: "SnpSift Exercises"
author: "Will Gammerdinger, Meeta Mistry"
date: "May 27, 2024"
---

In this exercise we will use the VCF file that we have generated in order to practice parsing our apart our VCF. The VCF file is availible for download [here]().

# Exercises

**1)** Extract all of the stop codon losses

```
java -jar $SNPEFF/SnpSift.jar filter "( ANN[*].EFFECT has 'stop_lost' ) " mutect2_syn3_normal_syn3_tumor_GRCh38.p7-pass-filt-LCR.pedigree_header.snpeff.dbSNP.vcf
```

**2)** Extract all of the SNPs on Chromosome 2 between 8Mb and 10.2Mb.

```
java -jar $SNPEFF/SnpSift.jar filter "( CHROM = '2' ) & ( POS > '8000000' ) & ( POS < '10200000' ) " mutect2_syn3_normal_syn3_tumor_GRCh38.p7-pass-filt-LCR.pedigree_header.snpeff.dbSNP.vcf
```

**3)** Extract all of the mutations that alter a splice site on Chromosome 11.

```
java -jar $SNPEFF/SnpSift.jar filter "( CHROM = 'X' ) & ( ( ANN[*].EFFECT has 'splice_donor_variant' ) | ( ANN[*].EFFECT has 'splice_acceptor_variant' ) )" mutect2_syn3_normal_syn3_tumor_GRCh38.p7-pass-filt-LCR.pedigree_header.snpeff.dbSNP.vcf
```

**4)** Extract all of the high impact mutations on Chromosome 12 or moderate impact mutations on Chromosome 3.

```
java -jar $SNPEFF/SnpSift.jar filter "( ( CHROM = '12') & ( ANN[*].IMPACT has 'HIGH' ) ) | ( ( CHROM = '13') & ( ANN[*].IMPACT has 'MODERATE' ) )" mutect2_syn3_normal_syn3_tumor_GRCh38.p7-pass-filt-LCR.pedigree_header.snpeff.dbSNP.vcf
```

[Next Lesson >>](11_IGV.md)

[Back to Schedule](../schedule/README.md)


***

*This lesson has been developed by members of the teaching team at the [Harvard Chan Bioinformatics Core (HBC)](http://bioinformatics.sph.harvard.edu/). These are open access materials distributed under the terms of the [Creative Commons Attribution license](https://creativecommons.org/licenses/by/4.0/) (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.*

0 comments on commit 90e7507

Please sign in to comment.