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. Recessive heritage
2. Dominant heritage (mother is affected)
3. For this region: 4
4. For these genes: RET,BRCA2
5. Are there variants for this SNPId: rs5064
6. Description of variants. How many MNVs?
7. Variants with MAF (Minimum Allelic Frequency) < 0.001 for European American population in ESP 6500
8. Variants with MAF (Minimum Allelic Frequency) < 0.001 for African American population in ESP 6500
9. Variants with the two preview MAFs at the same time

1. Can you apply filters to search “Cardiomyopathy” phenotype in dominant heritage(mother is affected)? (You can see a solution at the end, it could be more than one)
   • Download these final results in a csv file.

1. Candidate variants: 944
2. Candidate variants: 10925
3. Candidate variants: 1675
4. Candidate variants: 18
5. Candidate variants: 1
6. 14 MNVs
7. Candidate variants in European American population: 21399
8. Candidate variants in African American population: 21433
9. Candidate variants in the two MAFs: 21207

1. MAF ALL phase 1 < 0.1, MAF ALL phase3 < 0.1, Phylop > 0.5, PhastCons >0.5, GENE: VCL