Meta-SNP: Meta-predictor of disease causing variants Cite: Capriotti et al. BMC Genomics 2013. Suppl 3:S2. WEB: http://snps.biofold.org/meta-snp Sequence File: sp.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile G36A Neutral Neutral Neutral Neutral Neutral 8 F[G]=31% F[A]=33% Nali=48 0.148 0.094 0.180 0.260 0.085 G36D Neutral Neutral Disease Disease Neutral 1 F[G]=31% F[D]=4% Nali=48 0.417 0.497 0.010 0.635 0.452 Q75H Disease Neutral Disease Disease Neutral 6 F[Q]=42% F[H]=4% Nali=56 0.577 0.166 0.000 0.615 0.208 R125M Disease Disease Neutral Disease Disease 5 F[R]=95% F[M]=0% Nali=109 0.931 0.724 0.090 0.610 0.755 R127Q Neutral Neutral Neutral Disease Neutral 2 F[R]=33% F[Q]=0% Nali=110 0.429 0.446 0.070 0.545 0.388 Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variants Disease: Disease causing variants Outputs: Value reported under each prediction PANTHER: Between 0 and 1. (If >0.5 mutation is predicted Disease) PhD-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) SIFT: Positive Value (If >0.05 mutation is predicted Neutral) SNAP: Output normailzed between 0 and 1 (If >0.5 mutation is predicted Disease) Meta-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) RI: Reliability Index between 0 an 10 F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site