We have several candidate profiles of mutations because it is clear the kind of mutation we are searching but sometimes we do not have a specific clues.

1. Total number of variants.
2. Recessive inheritance
3. Dominant inheritance (mother is affected).
4. For these region, only chromosome: 3,19
5. Evaluate the same regions, including start and end at the first region: 3:1000-200000,19
6. For this gene: SDC3
7. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
8. Variants with MAF (Minimum Allelic Frequency) < 0.05 for AFR populations in 1000 Genomes phase 3
9. Variants with MAF (Minimum Allelic Frequency) < 0.05 for African American population in ESP 6500
10. Variants with MAF (Minimum Allelic Frequency) < 0.05 for EXAC population in ESP 6500
11. For SIFT <0.05 and polyphen >0.95, because it is likely pathogenic

1. Recessive inheritance + variants in candidate genes related to “stress fiber” function. (Clue: Gene Ontology filter).
2. Another scenario:
   • Retrieve the filter for recessive inheritance (small icon).
   • Variants in candidate genes related to “calcium ion binding” function. (Clue: Gene Ontology filter).

/* - Recessive inheritance. Can you apply filters to search “Autism” phenotype? (Clue: Human Phenotype Ontology filter). */

/*

1. Candidate variants: 964
2. Candidate variants: 10852
3. Candidate variants: 5015
4. Candidate variants: 975
5. Candidate variants: 2
6. 36307 SNVs, 3666 INDELs, 23 MNVs, 3 SVs, 0 CNVs
7. Candidate variants in 1000 Genomes, phase 1: 16102
8. Candidate variants in 1000 Genomes, phase 3: 17468
9. Candidate variants in European American population: 24460
10. Candidate variants: 313

1. sift<0.05, polyphen>0.95, AFR phase3 < 0.1

*/