• ANNOVAR注释结果中各列的表头说明：

当然关于人类的变异信息ANNOVAR注释的数据库很多，这里只列举了部分内容，下面是网上摘录了一个信息：https://brb.nci.nih.gov/seqtools/colexpanno.html

We provide here detailed Description about the files outputted from the  mutation annotators via ANNOVAR and SnpEff.

• SnpEff 注释结果各表头说明

• 
  详细说明 Information

• SIFT_pred  SIFT_score	SIFT	Sort intolerated from tolerated	P(An amino acid at a position is tolerated | The most frequentest amino acid being tolerated)	D: Deleterious (sift<=0.05); T: tolerated (sift>0.05)	Pauline Ng, Fred Hutchinson  Cancer Research Center, Seattle, Washington
  Polyphen2_HDIV_pred  Polyphen2_HDIV_score	Polyphen v2	Polymorphism phenotyping v2	D: Probably damaging (>=0.957),  P: possibly damaging (0.453<=pp2_hdiv<=0.956),  B: benign (pp2_hdiv<=0.452)	Probablistic Classifier Training sets: HumDiv	Havard Medical School/td>
  Polyphen2_HVAR_pred Polyphen2_HVAR_score	Polyphen v2	Polymorphism phenotyping v2	Machine learning Training sets: HumVar	D: Probably damaging (>=0.957),  P: possibly damaging (0.453<=pp2_hdiv<=0.956);  B: benign (pp2_hdiv<=0.452)	Shamil Sunyaev Havard Medical School
  LRT_pred  LRT_score	LRT	Likelihood ratio test	LRT of H0: each codon evolves neutrally vs H1: the codon evovles under negative selection	D: Deleterious;  N: Neutral; U: Unknown Lower scores are more deleterious	Sung Chung, Justin Fay Washington University
  MutationTaster_pred  MutationTaster_score	MutationTaster	Bayes Classifier	A: (""disease_causing_automatic"");  D: (""disease_causing"");  N: (""polymorphism [probably harmless]"");  P: (""polymorphism_automatic[known to be harmless]" higher values are more deleterious"		Markus Schuelke the Charité - Universitätsmedizin Berlin
  MutationAssessor_pred  MutationAssessor_score	MutationAssessor	Entropy of multiple sequence alighnment	H: high;  M: medium;  L: low;  N: neutral.  H/M means functional and L/N means non-functional higher values are more deleterious		Reva Boris Computation Biology Center Memorial Sloan Kettering Cancer Center
  FATHMM_pred  FATHMM_score	FATHMM	HMM	Functional analysis through hidden markov model HMM	D: Deleterious;  T: Tolerated; lower values are more deleterious	Shihab Hashem University of Bristol, UK
  PROVEAN_pred  PROVEAN_score		Protein Variation Effect Analyzer	Clustering of homologus sequences	D: Deleterious;  N: Neutral higher values are more deleterious	Choi Y J. Craig Venter Institute
  VEST3_score	VEST V3	Variant effect scoring tool	Random forest classifier	higher values are more deleterious	Rachel Karchin John Hopkins University
  CADD_raw CADD_phred	CADD Combined annotation dependent depletion	Linear kernel SVM	higher values are more deleterious		Jay Shendure, Xiaohui Xie University of California - Irvine
  DANN_score	DANN	Deleterious Annotation of genetic variants using Neural Networks	Neural network	higher values are more deleterious	Jay Shendure, Xiaohui Xie University of California - Irvine
  fathmm-MKL_coding_pred	FATHMM-MKL	predicting the effects of both coding and non-coding variants using nucleotide-based HMMs	Classifier based on multiple kernel learning	D: Deleterious;  T: Tolerated Score >= 0.5: D;  Score < 0.5: T	Shihab Hashem University of Bristol, UK
  MetaSVM_pred  MetaSVM_score	MetaSVM	Support vector machine	D: Deleterious; T: Tolerated; higher scores are more deleterious		Coco Dong USC Biostatiscs Department
  MetaLR_pred  MetaLR_score	MetaLR	Logistic regression	D: Deleterious;  T: Tolerated;  higher scores are more deleterious		Coco Dong  USC Biostatiscs Department
  integrated_fitCons_score  integrated_confidence_value	FitCons	Fitness consequences of functional annotation	Integrate functional assays like ChIP-Seq with conservation measure of transcription factor binding sites	higher scores are more deleterious	Abriza Cold Spring Harbor Lab
  GERP++_RS GERP++_NR	Genome Evolutionary Rate Profiling ++	maximum likelihood estimation procedure	higher scores are more deleterious		Eugne Davydov Stanford University, CS Department
  phyloP7way_vertebrate	PhyloP	Phylogentic p-values	Phylogentic p-values calculated from a LRT, score-based test, GERP test Use 7 species	higher scores are more deleterious	Adam Siepel  UCSC
  phyloP20way_mammalian	PhyloP	Phylogentic p-values	a phylogenetic hidden Markov model (phylo-HMM) Use 20 species	higher scores are more deleterious	Adam Siepel UCSC
  phastCons7way_vertebrate	phastCons	A phylogenetic hidden Markov model (phylo-HMM) Use 7 species	higher scores are more deleterious		Adam Siepel UCSC
  phastCons20way_mammalian	phastCons	a phylogenetic hidden Markov model (phylo-HMM) Use 20 species	higher scores are more deleterious		Adam Siepel UCSC
  SiPhy_29_way	SiPhy	Probablistic framework, HMM Use 29 species	higher scores are more deleterious		Manual Garber Broad Institute of MIT & Harvard