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title: "SnpSift Exercises" | ||
author: "Will Gammerdinger, Meeta Mistry" | ||
date: "May 27, 2024" | ||
--- | ||
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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](). | ||
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# Exercises | ||
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**1)** Extract all of the stop codon losses | ||
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``` | ||
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 | ||
``` | ||
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**2)** Extract all of the SNPs on Chromosome 2 between 8Mb and 10.2Mb. | ||
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``` | ||
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 | ||
``` | ||
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**3)** Extract all of the mutations that alter a splice site on Chromosome 11. | ||
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``` | ||
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 | ||
``` | ||
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**4)** Extract all of the high impact mutations on Chromosome 12 or moderate impact mutations on Chromosome 3. | ||
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``` | ||
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 | ||
``` | ||
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[Next Lesson >>](11_IGV.md) | ||
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[Back to Schedule](../schedule/README.md) | ||
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*** | ||
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*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.* |