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  1. Download and install the Integrative Genome Viewer from the Broad Institute. 
  2. Select "Human hg19" as the reference genome from the top left drop down (you may need to select "more" to have hg19 as an option)
  3. Get some data: File > Load from Server… > 1000 genomes > Alignments > ACB > exome > HG01880
  4. Navigate to the rightmost exons of the GABBR1 gene.
  5. Zoom in until you find some SNPs. (Hint look just to the left of the 2nd exon).
  6. What type of library is this? (Hint: zoom out)
  7. If you knew this was a cancer patient, consider how strongly you would think this may be a potentially causative mutation.
  8. Imagine it was actually in the exon rather than just into the intron... would that make you consider it more?
  9. Load and look at the SNP track: File > Load from server > Annotations > Variants and Repeats > dbSNP 1.3.7
  10. The track may load with the Refseq genes, making it useful to resize that window to view both the gene and the dbSNP information simultaneously.
  11. Consider if this makes you think it more likely or less likely that this is a causative mutation.

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