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 inheritance
2. Dominant inheritance (father is affected).
3. For these regions: 1:3000-10000000,20:1000-200000000
4. For these genes: CDK11A,CDK11B
5. Any variant for this SNPId: rs116440577?
6. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
7. Variants with MAF (Minimum Allelic Frequency) < 0.001 for ALL populations in 1000 Genomes phase 3
8. Variants with MAF (Minimum Allelic Frequency) < 0.001 for European population (EUR) in 1000 Genomes phase 3
9. Variants with two preview conditions realted to MAFs at the same time

1. We have several clues about our candidate variants. In addition of knowing the pattern of recessive inheritance , we search variants with MAF < 0.1 (for ALL populations in 1000 Genomes phase 3) because it is a rare disease. Consequence type must be “missense variant” (moderate).
   • How many variants do you have including both characteristics?
2. We have several clues about our candidate variants. In addition of knowing the pattern of dominant inheritance (father is affected), we search variants with MAF < 0.1 (for all populations in 1000 Genomes phase 3) because it is a rare disease. Consequence type must be “intron variant” (modifier).
   • How many variants do you have including both characteristics?