type: allele_score
allele_score_mode: substitutions

table:
  filename: dbNSFP4.9a.gz
  format: tabix
  chrom:
    name: chr
  pos_begin:
    name: pos(1-based)
  reference:
    name: ref
  alternative:
    name: alt
  chrom_mapping:
    add_prefix: chr
meta:
  summary: dbNSFPv4.9a
  description: 'The dbNSFP is an integrated database of functional annotations from multiple sources for
    the comprehensive collection of human non-synonymous SNPs (nsSNVs). Its current version includes a
    total of 84,013,490 nsSNVs and ssSNVs (splice site SNVs). It compiles prediction scores from 32 prediction
    algorithms (SIFT, SIFT4G, Polyphen2-HDIV, Polyphen2-HVAR, LRT, MutationTaster2, MutationAssessor,
    FATHMM, MetaSVM, MetaLR, CADD, VEST4, PROVEAN, FATHMM-MKL coding, FATHMM-XF coding, fitCons, LINSIGHT,
    DANN, GenoCanyon, Eigen, Eigen-PC, M-CAP, REVEL, MutPred, MVP, MPC, PrimateAI, GEOGEN2, BayesDel,
    ClinPred, LIST-S2, ALoFT), 9 conservation scores (bStatistic, phyloP100way_vertebrate, phyloP30way\_mammal,
    phyloP17way\_primate, phastCons100way\_vertebrate, phastCons30way\_mammal, phastCons17way\_primate,
    GERP++ and SiPhy) and other function annotations. Since version 2.0, dbNSFP is separated into two
    parts, dbNSFP\_variant and dbNSFP\_gene. As their names indicate, the former focuses on variant annotations
    (including prediction scores and conservation scores), and the latter focuses on gene annotations.


    [Liu et al., dbNSFP: a lightweight database of human non-synonymous SNPs and their functional predictions.
    Human Mutation 2011](https://onlinelibrary.wiley.com/doi/full/10.1002/humu.21517)


    [Liu et al, dbNSFP v4: a comprehensive database of transcript-specific functional predictions and
    annotations for human nonsynonymous and splice-site SNVs. Genome Medicine 2020](https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-020-00803-9)


    dbNSFPv4.9a.zip downloaded from [https://dbnsfp.s3.amazonaws.com/dbNSFP4.9a.zip](https://dbnsfp.s3.amazonaws.com/dbNSFP4.9a.zip)
    on 11/20/2024.


    dbNSFP4.9a.readme.txt is downloaded from [https://usf.app.box.com/s/535gi9e8twzv2wr5j2sxlto3i6tc208d](https://usf.app.box.com/s/535gi9e8twzv2wr5j2sxlto3i6tc208d)
    on 11/20/2024.


    build.sh creates dbNSFPv4.9a.gz and dbNSFPv4.9asamples.gz from the zip file and calls PrepGenRes.py,
    which 1) reads the score descriptions from dbNSFP4.9a.readme.txt, 2) infers score types using dbNSFPv4.9asamples.gz,
    3) prepares the genomic_resource.yaml file.'
  labels:
    reference_genome: hg38/genomes/GRCh38-hg38
scores:
- id: aaref
  column_name: aaref
  type: str
  desc: reference amino acid "." if the variant is a splicing site SNP (2bp on each end of an intron)
- id: aaalt
  column_name: aaalt
  type: str
  desc: alternative amino acid "." if the variant is a splicing site SNP (2bp on each end of an intron)
- id: rs_dbSNP
  column_name: rs_dbSNP
  type: str
  desc: rs number from dbSNP
- id: hg19_chr
  column_name: hg19_chr
  type: str
  desc: chromosome as to hg19, "." means missing
- id: hg19_pos(1-based)
  column_name: hg19_pos(1-based)
  type: int
  desc: 'physical position on the chromosome as to hg19 (1-based coordinate). For mitochondrial SNV, this
    position refers to a YRI sequence (GenBank: AF347015)'
- id: hg18_chr
  column_name: hg18_chr
  type: str
  desc: chromosome as to hg18, "." means missing
- id: hg18_pos(1-based)
  column_name: hg18_pos(1-based)
  type: int
  desc: 'physical position on the chromosome as to hg18 (1-based coordinate) For mitochondrial SNV, this
    position refers to a YRI sequence (GenBank: AF347015)'
- id: aapos
  column_name: aapos
  type: str
  desc: amino acid position as to the protein. "-1" if the variant is a splicing site SNP (2bp on each
    end of an intron). Multiple entries separated by ";", corresponding to Ensembl_proteinid
- id: genename
  column_name: genename
  type: str
  desc: gene name; if the nsSNV can be assigned to multiple genes, gene names are separated by ";"
- id: Ensembl_geneid
  column_name: Ensembl_geneid
  type: str
  desc: Ensembl gene id
- id: Ensembl_transcriptid
  column_name: Ensembl_transcriptid
  type: str
  desc: Ensembl transcript ids (Multiple entries separated by ";")
- id: Ensembl_proteinid
  column_name: Ensembl_proteinid
  type: str
  desc: Ensembl protein ids Multiple entries separated by ";",  corresponding to Ensembl_transcriptids
- id: Uniprot_acc
  column_name: Uniprot_acc
  type: str
  desc: Uniprot accession number matching the Ensembl_proteinid Multiple entries separated by ";".
- id: Uniprot_entry
  column_name: Uniprot_entry
  type: str
  desc: Uniprot entry ID matching the Ensembl_proteinid Multiple entries separated by ";".
- id: HGVSc_ANNOVAR
  column_name: HGVSc_ANNOVAR
  type: str
  desc: HGVS coding variant presentation from ANNOVAR Multiple entries separated by ";", corresponds to
    Ensembl_transcriptid
- id: HGVSp_ANNOVAR
  column_name: HGVSp_ANNOVAR
  type: str
  desc: HGVS protein variant presentation from ANNOVAR Multiple entries separated by ";", corresponds
    to Ensembl_proteinid
- id: HGVSc_snpEff
  column_name: HGVSc_snpEff
  type: str
  desc: HGVS coding variant presentation from snpEff Multiple entries separated by ";", corresponds to
    Ensembl_transcriptid
- id: HGVSp_snpEff
  column_name: HGVSp_snpEff
  type: str
  desc: HGVS protein variant presentation from snpEff Multiple entries separated by ";", corresponds to
    Ensembl_proteinid
- id: HGVSc_VEP
  column_name: HGVSc_VEP
  type: str
  desc: HGVS coding variant presentation from VEP Multiple entries separated by ";", corresponds to Ensembl_transcriptid
- id: HGVSp_VEP
  column_name: HGVSp_VEP
  type: str
  desc: HGVS protein variant presentation from VEP Multiple entries separated by ";", corresponds to Ensembl_proteinid
- id: APPRIS
  column_name: APPRIS
  type: str
  desc: 'APPRIS annotation for the transcripts matching Ensembl_transcriptid Multiple entries separated
    by ";". Potential values: principal1, principal2, principal3, principal4, principal5, alternative1,
    alternative2. See https://useast.ensembl.org/info/genome/genebuild/transcript_quality_tags.html'
- id: GENCODE_basic
  column_name: GENCODE_basic
  type: str
  desc: Whether the transcript belongs to GENCODE_basic (5' and 3' complete transcripts). Multiple entries
    separated by ";", matching Ensembl_transcriptid. See https://useast.ensembl.org/info/genome/genebuild/transcript_quality_tags.html
- id: TSL
  column_name: TSL
  type: str
  desc: 'Transcript Support Level. Multiple entries separated by ";", matching Ensembl_transcriptid. Potential
    values: 1 to 5, NA. See https://useast.ensembl.org/info/genome/genebuild/transcript_quality_tags.html'
- id: VEP_canonical
  column_name: VEP_canonical
  type: str
  desc: canonical transcript used in Ensembl. Multiple entries separated by ";", matching Ensembl_transcriptid.
    See https://useast.ensembl.org/Help/Glossary?id=521
- id: cds_strand
  column_name: cds_strand
  type: str
  desc: coding sequence (CDS) strand (+ or -)
- id: refcodon
  column_name: refcodon
  type: str
  desc: reference codon
- id: codonpos
  column_name: codonpos
  type: str
  desc: position on the codon (1, 2 or 3)
- id: codon_degeneracy
  column_name: codon_degeneracy
  type: str
  desc: degenerate type (0, 2 or 3)
- id: Ancestral_allele
  column_name: Ancestral_allele
  type: str
  desc: 'ancestral allele based on 8 primates EPO. Ancestral alleles by Ensembl 84. The following comes
    from its original README file: ACTG - high-confidence call, ancestral state supported by the other
    two sequences actg - low-confidence call, ancestral state supported by one sequence only N    - failure,
    the ancestral state is not supported by any other sequence -    - the extant species contains an insertion
    at this position .    - no coverage in the alignment'
- id: AltaiNeandertal
  column_name: AltaiNeandertal
  type: str
  desc: genotype of a deep sequenced Altai Neanderthal
- id: Denisova
  column_name: Denisova
  type: str
  desc: genotype of a deep sequenced Denisova
- id: VindijiaNeandertal
  column_name: VindijiaNeandertal
  type: str
  desc: genotype of a deep sequenced Vindijia Neandertal
- id: ChagyrskayaNeandertal
  column_name: ChagyrskayaNeandertal
  type: str
  desc: genotype of a deep sequenced Chagyrskaya Neandertal
- id: SIFT_score
  column_name: SIFT_score
  type: str
  desc: SIFT score (SIFTori). Scores range from 0 to 1. The smaller the score the more likely the SNP
    has damaging effect. Multiple scores separated by ";", corresponding to Ensembl_proteinid.
- id: SIFT_converted_rankscore
  column_name: SIFT_converted_rankscore
  type: float
  desc: SIFTori scores were first converted to SIFTnew=1-SIFTori, then ranked among all SIFTnew scores
    in dbNSFP. The rankscore is the ratio of the rank the SIFTnew score over the total number of SIFTnew
    scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented.
    The rankscores range from 0.00964 to 0.91255.
- id: SIFT_pred
  column_name: SIFT_pred
  type: str
  desc: If SIFTori is smaller than 0.05 (rankscore>0.39575) the corresponding nsSNV is predicted as "D(amaging)";
    otherwise it is predicted as "T(olerated)". Multiple predictions separated by ";"
- id: SIFT4G_score
  column_name: SIFT4G_score
  type: str
  desc: SIFT 4G score (SIFT4G). Scores range from 0 to 1. The smaller the score the more likely the SNP
    has damaging effect. Multiple scores separated by ",", corresponding to Ensembl_transcriptid
- id: SIFT4G_converted_rankscore
  column_name: SIFT4G_converted_rankscore
  type: float
  desc: SIFT4G scores were first converted to SIFT4Gnew=1-SIFT4G, then ranked among all SIFT4Gnew scores
    in dbNSFP. The rankscore is the ratio of the rank the SIFT4Gnew score over the total number of SIFT4Gnew
    scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented.
- id: SIFT4G_pred
  column_name: SIFT4G_pred
  type: str
  desc: If SIFT4G is < 0.05 the corresponding nsSNV is predicted as "D(amaging)"; otherwise it is predicted
    as "T(olerated)". Multiple scores separated by ",", corresponding to Ensembl_transcriptid
- id: Polyphen2_HDIV_score
  column_name: Polyphen2_HDIV_score
  type: str
  desc: Polyphen2 score based on HumDiv, i.e. hdiv_prob. The score ranges from 0 to 1. Multiple entries
    separated by ";", corresponding to Uniprot_acc.
- id: Polyphen2_HDIV_rankscore
  column_name: Polyphen2_HDIV_rankscore
  type: float
  desc: Polyphen2 HDIV scores were first ranked among all HDIV scores in dbNSFP. The rankscore is the
    ratio of the rank the score over the total number of the scores in dbNSFP. If there are multiple scores,
    only the most damaging (largest) rankscore is presented. The scores range from 0.03061 to 0.91137.
- id: Polyphen2_HDIV_pred
  column_name: Polyphen2_HDIV_pred
  type: str
  desc: Polyphen2 prediction based on HumDiv, "D" ("probably damaging", HDIV score in [0.957,1] or rankscore
    in [0.55859,0.91137]), "P" ("possibly damaging", HDIV score in [0.454,0.956] or rankscore in [0.37043,0.55681])
    and "B" ("benign", HDIV score in [0,0.452] or rankscore in [0.03061,0.36974]). Score cutoff for binary
    classification is 0.5 for HDIV score or 0.38028 for rankscore, i.e. the prediction is "neutral" if
    the HDIV score is smaller than 0.5 (rankscore is smaller than 0.38028), and "deleterious" if the HDIV
    score is larger than 0.5 (rankscore is larger than
- id: Polyphen2_HVAR_score
  column_name: Polyphen2_HVAR_score
  type: str
  desc: Polyphen2 score based on HumVar, i.e. hvar_prob. The score ranges from 0 to 1. Multiple entries
    separated by ";", corresponding to Uniprot_acc.
- id: Polyphen2_HVAR_rankscore
  column_name: Polyphen2_HVAR_rankscore
  type: float
  desc: Polyphen2 HVAR scores were first ranked among all HVAR scores in dbNSFP. The rankscore is the
    ratio of the rank the score over the total number of the scores in dbNSFP. If there are multiple scores,
    only the most damaging (largest) rankscore is presented. The scores range from 0.01493 to 0.97581.
- id: Polyphen2_HVAR_pred
  column_name: Polyphen2_HVAR_pred
  type: str
  desc: Polyphen2 prediction based on HumVar, "D" ("probably damaging", HVAR score in [0.909,1] or rankscore
    in [0.65694,0.97581]), "P" ("possibly damaging", HVAR in [0.447,0.908] or rankscore in [0.47121,0.65622])
    and "B" ("benign", HVAR score in [0,0.446] or rankscore in [0.01493,0.47076]). Score cutoff for binary
    classification is 0.5 for HVAR score or 0.48762 for rankscore, i.e. the prediction is "neutral" if
    the HVAR score is smaller than 0.5 (rankscore is smaller than
- id: LRT_score
  column_name: LRT_score
  type: float
  desc: The original LRT two-sided p-value (LRTori), ranges from 0 to 1.
- id: LRT_converted_rankscore
  column_name: LRT_converted_rankscore
  type: float
  desc: LRTori scores were first converted as LRTnew=1-LRTori*0.5 if Omega<1, or LRTnew=LRTori*0.5 if
    Omega>=1. Then LRTnew scores were ranked among all LRTnew scores in dbNSFP. The rankscore is the ratio
    of the rank over the total number of the scores in dbNSFP. The scores range from 0.00162 to 0.8433.
- id: LRT_pred
  column_name: LRT_pred
  type: str
  desc: LRT prediction, D(eleterious), N(eutral) or U(nknown), which is not solely determined by the score.
- id: LRT_Omega
  column_name: LRT_Omega
  type: float
  desc: estimated nonsynonymous-to-synonymous-rate ratio (Omega, reported by LRT)
- id: MutationTaster_score
  column_name: MutationTaster_score
  type: str
  desc: MutationTaster p-value (MTori), ranges from 0 to 1. Multiple scores are separated by ";". Information
    on corresponding transcript(s) can be found by querying http://www.mutationtaster.org/ChrPos.html
- id: MutationTaster_converted_rankscore
  column_name: MutationTaster_converted_rankscore
  type: float
  desc: The MTori scores were first converted. If the prediction is "A" or "D" MTnew=MTori; if the prediction
    is "N" or "P", MTnew=1-MTori. Then MTnew scores were ranked among all MTnew scores in dbNSFP. If there
    are multiple scores of a SNV, only the largest MTnew was used in ranking. The rankscore is the ratio
    of the rank of the score over the total number of MTnew scores in dbNSFP. The scores range from 0.08979
    to 0.81001.
- id: MutationTaster_pred
  column_name: MutationTaster_pred
  type: str
  desc: MutationTaster prediction, "A" ("disease_causing_automatic"), "D" ("disease_causing"), "N" ("polymorphism")
    or "P" ("polymorphism_automatic"). The score cutoff between "D" and "N" is 0.5 for MTnew and 0.31733
    for the rankscore.
- id: MutationTaster_model
  column_name: MutationTaster_model
  type: str
  desc: MutationTaster prediction models.
- id: MutationTaster_AAE
  column_name: MutationTaster_AAE
  type: str
  desc: MutationTaster predicted amino acid change.
- id: MutationAssessor_score
  column_name: MutationAssessor_score
  type: str
  desc: MutationAssessor functional impact combined score (MAori). The score ranges from -5.17 to 6.49
    in dbNSFP. Multiple entries are separated by ";", corresponding to Uniprot_entry.
- id: MutationAssessor_rankscore
  column_name: MutationAssessor_rankscore
  type: float
  desc: MAori scores were ranked among all MAori scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of MAori scores in dbNSFP. The scores range from 0 to 1.
- id: MutationAssessor_pred
  column_name: MutationAssessor_pred
  type: str
  desc: MutationAssessor's functional impact of a variant - predicted functional, i.e. high ("H") or medium
    ("M"), or predicted non-functional, i.e. low ("L") or neutral ("N"). The MAori score cutoffs between
    "H" and "M", "M" and "L", and "L" and "N", are 3.5, 1.935 and 0.8, respectively. The rankscore cutoffs
    between "H" and "M", "M" and "L", and "L" and "N", are 0.9307, 0.52043 and 0.19675, respectively.
- id: FATHMM_score
  column_name: FATHMM_score
  type: str
  desc: FATHMM default score (weighted for human inherited-disease mutations with Disease Ontology) (FATHMMori).
    Scores range from -16.13 to 10.64. The smaller the score the more likely the SNP has damaging effect.
    Multiple scores separated by ";", corresponding to Ensembl_proteinid.
- id: FATHMM_converted_rankscore
  column_name: FATHMM_converted_rankscore
  type: float
  desc: FATHMMori scores were first converted to FATHMMnew=1-(FATHMMori+16.13)/26.77, then ranked among
    all FATHMMnew scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total
    number of FATHMMnew scores in dbNSFP. If there are multiple scores, only the most damaging (largest)
    rankscore is presented. The scores range from 0 to 1.
- id: FATHMM_pred
  column_name: FATHMM_pred
  type: str
  desc: If a FATHMMori score is <=-1.5 (or rankscore >=0.81332) the corresponding nsSNV is predicted as
    "D(AMAGING)"; otherwise it is predicted as "T(OLERATED)". Multiple predictions separated by ";", corresponding
    to Ensembl_proteinid.
- id: PROVEAN_score
  column_name: PROVEAN_score
  type: str
  desc: PROVEAN score (PROVEANori). Scores range from -14 to 14. The smaller the score the more likely
    the SNP has damaging effect. Multiple scores separated by ";", corresponding to Ensembl_proteinid.
- id: PROVEAN_converted_rankscore
  column_name: PROVEAN_converted_rankscore
  type: float
  desc: PROVEANori were first converted to PROVEANnew=1-(PROVEANori+14)/28, then ranked among all PROVEANnew
    scores in dbNSFP. The rankscore is the ratio of the rank the PROVEANnew score over the total number
    of PROVEANnew scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore
    is presented. The scores range from 0 to 1.
- id: PROVEAN_pred
  column_name: PROVEAN_pred
  type: str
  desc: If PROVEANori <= -2.5 (rankscore>=0.54382) the corresponding nsSNV is predicted as "D(amaging)";
    otherwise it is predicted as "N(eutral)". Multiple predictions separated by ";", corresponding to
    Ensembl_proteinid.
- id: VEST4_score
  column_name: VEST4_score
  type: str
  desc: VEST 4.0 score. Score ranges from 0 to 1. The larger the score the more likely the mutation may
    cause functional change. Multiple scores separated by ";", corresponding to Ensembl_transcriptid.
    Please note this score is free for non-commercial use. For more details please refer to http://wiki.chasmsoftware.org/index.php/SoftwareLicense.
    Commercial users should contact the Johns Hopkins Technology Transfer office.
- id: VEST4_rankscore
  column_name: VEST4_rankscore
  type: float
  desc: VEST4 scores were ranked among all VEST4 scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of VEST4 scores in dbNSFP. In case there are multiple scores for
    the same variant, the largest score (most damaging) is presented. The scores range from 0 to 1. Please
    note VEST score is free for non-commercial use. For more details please refer to http://wiki.chasmsoftware.org/index.php/SoftwareLicense.
    Commercial users should contact the Johns Hopkins Technology Transfer office.
- id: MetaSVM_score
  column_name: MetaSVM_score
  type: float
  desc: Our support vector machine (SVM) based ensemble prediction score, which incorporated 10 scores
    (SIFT, PolyPhen-2 HDIV, PolyPhen-2 HVAR, GERP++, MutationTaster, Mutation Assessor, FATHMM, LRT, SiPhy,
    PhyloP) and the maximum frequency observed in the 1000 genomes populations. Larger value means the
    SNV is more likely to be damaging. Scores range from -2 to 3 in dbNSFP.
- id: MetaSVM_rankscore
  column_name: MetaSVM_rankscore
  type: float
  desc: MetaSVM scores were ranked among all MetaSVM scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of MetaSVM scores in dbNSFP. The scores range from 0 to 1.
- id: MetaSVM_pred
  column_name: MetaSVM_pred
  type: str
  desc: Prediction of our SVM based ensemble prediction score,"T(olerated)" or "D(amaging)". The score
    cutoff between "D" and "T" is 0. The rankscore cutoff between "D" and "T" is 0.82257.
- id: MetaLR_score
  column_name: MetaLR_score
  type: float
  desc: Our logistic regression (LR) based ensemble prediction score, which incorporated 10 scores (SIFT,
    PolyPhen-2 HDIV, PolyPhen-2 HVAR, GERP++, MutationTaster, Mutation Assessor, FATHMM, LRT, SiPhy, PhyloP)
    and the maximum frequency observed in the 1000 genomes populations. Larger value means the SNV is
    more likely to be damaging. Scores range from 0 to 1.
- id: MetaLR_rankscore
  column_name: MetaLR_rankscore
  type: float
  desc: MetaLR scores were ranked among all MetaLR scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of MetaLR scores in dbNSFP. The scores range from 0 to 1.
- id: MetaLR_pred
  column_name: MetaLR_pred
  type: str
  desc: Prediction of our MetaLR based ensemble prediction score,"T(olerated)" or "D(amaging)". The score
    cutoff between "D" and "T" is 0.5. The rankscore cutoff between "D" and "T" is 0.81101.
- id: Reliability_index
  column_name: Reliability_index
  type: int
  desc: Number of observed component scores (except the maximum frequency in the 1000 genomes populations)
    for MetaSVM and MetaLR. Ranges from 1 to 10. As MetaSVM and MetaLR scores are calculated based on
    imputed data, the less missing component scores, the higher the reliability of the scores and predictions.
- id: MetaRNN_score
  column_name: MetaRNN_score
  type: str
  desc: Our recurrent neural network (RNN) based ensemble prediction score, which incorporated 16 scores
    (SIFT, Polyphen2_HDIV, Polyphen2_HVAR, MutationAssessor, PROVEAN, VEST4, M-CAP, REVEL, MutPred, MVP,
    PrimateAI, DEOGEN2, CADD, fathmm-XF, Eigen and GenoCanyon),
- id: MetaRNN_rankscore
  column_name: MetaRNN_rankscore
  type: float
  desc: MetaRNN scores were ranked among all MetaRNN scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of MetaRNN scores in dbNSFP. The scores range from 0 to 1.
- id: MetaRNN_pred
  column_name: MetaRNN_pred
  type: str
  desc: Prediction of our MetaRNN based ensemble prediction score,"T(olerated)" or "D(amaging)". The score
    cutoff between "D" and "T" is 0.5. The rankscore cutoff between "D" and "T" is 0.6149.
- id: M-CAP_score
  column_name: M-CAP_score
  type: float
  desc: 'M-CAP is hybrid ensemble score (details in DOI: 10.1038/ng.3703). Scores range from 0 to 1. The
    larger the score the more likely the SNP has damaging effect.'
- id: M-CAP_rankscore
  column_name: M-CAP_rankscore
  type: float
  desc: M-CAP scores were ranked among all M-CAP scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of M-CAP scores in dbNSFP.
- id: M-CAP_pred
  column_name: M-CAP_pred
  type: str
  desc: Prediction of M-CAP score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.025.
- id: REVEL_score
  column_name: REVEL_score
  type: str
  desc: REVEL is an ensemble score based on 13 individual scores for predicting the pathogenicity of missense
    variants. Scores range from 0 to 1. The larger the score the more likely the SNP has damaging effect.
    "REVEL scores are freely available for non-commercial use. For other uses, please contact Weiva Sieh"
    (weiva.sieh@mssm.edu) Multiple entries are separated by ";", corresponding to Ensembl_transcriptid.
- id: REVEL_rankscore
  column_name: REVEL_rankscore
  type: float
  desc: REVEL scores were ranked among all REVEL scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of REVEL scores in dbNSFP.
- id: MutPred_score
  column_name: MutPred_score
  type: str
  desc: General MutPred score. Scores range from 0 to 1. The larger the score the more likely the SNP
    has damaging effect.
- id: MutPred_rankscore
  column_name: MutPred_rankscore
  type: float
  desc: MutPred scores were ranked among all MutPred scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of MutPred scores in dbNSFP.
- id: MutPred_protID
  column_name: MutPred_protID
  type: str
  desc: UniProt accession or Ensembl transcript ID used for MutPred_score calculation.
- id: MutPred_AAchange
  column_name: MutPred_AAchange
  type: str
  desc: Amino acid change used for MutPred_score calculation.
- id: MutPred_Top5features
  column_name: MutPred_Top5features
  type: str
  desc: Top 5 features (molecular mechanisms of disease) as predicted by MutPred with p values. MutPred_score
    > 0.5 and p < 0.05 are referred to as actionable hypotheses. MutPred_score > 0.75 and p < 0.05 are
    referred to as confident hypotheses. MutPred_score > 0.75 and p < 0.01 are referred to as very confident
    hypotheses.
- id: MVP_score
  column_name: MVP_score
  type: str
  desc: 'A pathogenicity prediction score for missense variants using deep learning approach. The range
    of MVP score is from 0 to 1. The larger the score, the more likely the variant is pathogenic. The
    authors suggest thresholds of 0.7 and 0.75 for separating damaging vs tolerant variants in constrained
    genes (ExAC pLI >=0.5) and non-constrained genes (ExAC pLI<0.5), respectively. Details see doi: http://dx.doi.org/10.1101/259390
    Multiple entries are separated by ";", corresponding to Ensembl_transcriptid.'
- id: MVP_rankscore
  column_name: MVP_rankscore
  type: float
  desc: MVP scores were ranked among all MVP scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of MVP scores in dbNSFP.
- id: gMVP_score
  column_name: gMVP_score
  type: str
  desc: 'A pathogenicity prediction score for missense variants using a graph attention neural network
    model. The range of gMVP score is from 0 to 1. The larger the score, the more likely the variant is
    pathogenic. Details see doi: https://www.nature.com/articles/s42256-022-00561-w Multiple entries are
    separated by ";", corresponding to Ensembl_transcriptid.'
- id: gMVP_rankscore
  column_name: gMVP_rankscore
  type: float
  desc: gMVP scores were ranked among all gMVP scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of gMVP scores in dbNSFP.
- id: MPC_score
  column_name: MPC_score
  type: str
  desc: 'A deleteriousness prediction score for missense variants based on regional missense constraint.
    The range of MPC score is 0 to 5. The larger the score, the more likely the variant is pathogenic.
    Details see doi: http://dx.doi.org/10.1101/148353. Multiple entries are separated by ";", corresponding
    to Ensembl_transcriptid.'
- id: MPC_rankscore
  column_name: MPC_rankscore
  type: float
  desc: MPC scores were ranked among all MPC scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of MPC scores in dbNSFP.
- id: PrimateAI_score
  column_name: PrimateAI_score
  type: float
  desc: A pathogenicity prediction score for missense variants based on common variants of non-human primate
    species using a deep neural network. The range of PrimateAI score is 0 to 1. The larger the score,
    the more likely the variant is pathogenic. The authors suggest a threshold of 0.803 for separating
    damaging vs tolerant variants. Details see https://doi.org/10.1038/s41588-018-0167-z
- id: PrimateAI_rankscore
  column_name: PrimateAI_rankscore
  type: float
  desc: PrimateAI scores were ranked among all PrimateAI scores in dbNSFP. The rankscore is the ratio
    of the rank of the score over the total number of PrimateAI scores in dbNSFP.
- id: PrimateAI_pred
  column_name: PrimateAI_pred
  type: str
  desc: Prediction of PrimateAI score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.803.
- id: DEOGEN2_score
  column_name: DEOGEN2_score
  type: str
  desc: A deleteriousness prediction score "which incorporates heterogeneous information about the molecular
    effects of the variants, the domains involved, the relevance of the gene and the interactions in which
    it participates". It ranges from 0 to 1. The larger the score, the more likely the variant is deleterious.
    The authors suggest a threshold of 0.5 for separating damaging vs tolerant variants.
- id: DEOGEN2_rankscore
  column_name: DEOGEN2_rankscore
  type: float
  desc: DEOGEN2 scores were ranked among all DEOGEN2 scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of DEOGEN2 scores in dbNSFP.
- id: DEOGEN2_pred
  column_name: DEOGEN2_pred
  type: str
  desc: Prediction of DEOGEN2 score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.5.
- id: BayesDel_addAF_score
  column_name: BayesDel_addAF_score
  type: float
  desc: A deleteriousness preidction meta-score for SNVs and indels with inclusion of MaxAF. See https://doi.org/10.1002/humu.23158
    for details. The range of the score in dbNSFP is from -1.11707 to
- id: BayesDel_addAF_rankscore
  column_name: BayesDel_addAF_rankscore
  type: float
  desc: BayesDel_addAF scores were ranked among all BayesDel_addAF scores in dbNSFP. The rankscore is
    the ratio of the rank of the score over the total number of BayesDel_addAF scores in dbNSFP.
- id: BayesDel_addAF_pred
  column_name: BayesDel_addAF_pred
  type: str
  desc: Prediction of BayesDel_addAF score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.0692655.
- id: BayesDel_noAF_score
  column_name: BayesDel_noAF_score
  type: float
  desc: A deleteriousness preidction meta-score for SNVs and indels without inclusion of MaxAF. See https://doi.org/10.1002/humu.23158
    for details. The range of the score in dbNSFP is from -1.31914 to 0.840878. The higher the score,
    the more likely the variant is pathogenic. The author suggested cutoff between deleterious ("D") and
    tolerated ("T") is -0.0570105.
- id: BayesDel_noAF_rankscore
  column_name: BayesDel_noAF_rankscore
  type: float
  desc: BayesDel_noAF scores were ranked among all BayesDel_noAF scores in dbNSFP. The rankscore is the
    ratio of the rank of the score over the total number of BayesDel_noAF scores in dbNSFP.
- id: BayesDel_noAF_pred
  column_name: BayesDel_noAF_pred
  type: str
  desc: Prediction of BayesDel_noAF score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is -0.0570105.
- id: ClinPred_score
  column_name: ClinPred_score
  type: float
  desc: A deleteriousness preidction meta-score for nonsynonymous SNVs. See https://doi.org/10.1016/j.ajhg.2018.08.005.
    for details. The range of the score in dbNSFP is from 0 to 1. The higher the score, the more likely
    the variant is pathogenic. The author suggested cutoff between deleterious ("D") and tolerated ("T")
    is 0.5.
- id: ClinPred_rankscore
  column_name: ClinPred_rankscore
  type: float
  desc: ClinPred scores were ranked among all ClinPred scores in dbNSFP. The rankscore is the ratio of
    the rank of the score over the total number of ClinPred scores in dbNSFP.
- id: ClinPred_pred
  column_name: ClinPred_pred
  type: str
  desc: Prediction of ClinPred score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.5.
- id: LIST-S2_score
  column_name: LIST-S2_score
  type: str
  desc: A deleteriousness preidction score for nonsynonymous SNVs. See https://doi.org/10.1093/nar/gkaa288.
    for details. The range of the score in dbNSFP is from 0 to 1. The higher the score, the more likely
    the variant is pathogenic. The author suggested cutoff between deleterious ("D") and tolerated ("T")
    is 0.85.
- id: LIST-S2_rankscore
  column_name: LIST-S2_rankscore
  type: float
  desc: LIST-S2 scores were ranked among all LIST-S2 scores in dbNSFP. The rankscore is the ratio of the
    rank of the score over the total number of LIST-S2 scores in dbNSFP.
- id: LIST-S2_pred
  column_name: LIST-S2_pred
  type: str
  desc: Prediction of LIST-S2 score based on the authors' recommendation, "T(olerated)" or "D(amaging)".
    The score cutoff between "D" and "T" is 0.85.
- id: VARITY_R_score
  column_name: VARITY_R_score
  type: str
  desc: 'VARITY_R scores are pathogenicity prediction scores for rare human missense variants. The range
    of VARITY_R score is from 0 to 1. The larger the score, the more likely the variant is pathogenic.
    Details see doi: https://doi.org/10.1016/j.ajhg.2021.08.012'
- id: VARITY_R_rankscore
  column_name: VARITY_R_rankscore
  type: float
  desc: VARITY_R scores were ranked among all VARITY_R scores in dbNSFP. The rankscore is the ratio of
    the rank of the score over the total number of VARITY_R scores in dbNSFP.
- id: VARITY_ER_score
  column_name: VARITY_ER_score
  type: str
  desc: 'VARITY_ER scores are pathogenicity prediction scores for extreme rare human missense variants.
    The range of VARITY_ER score is from 0 to 1. The larger the score, the more likely the variant is
    pathogenic. Details see doi: https://doi.org/10.1016/j.ajhg.2021.08.012'
- id: VARITY_ER_rankscore
  column_name: VARITY_ER_rankscore
  type: float
  desc: VARITY_ER scores were ranked among all VARITY_ER scores in dbNSFP. The rankscore is the ratio
    of the rank of the score over the total number of VARITY_ER scores in dbNSFP.
- id: VARITY_R_LOO_score
  column_name: VARITY_R_LOO_score
  type: str
  desc: '"Same as VARITY_R except the prediction on the variants used for training was made using Leave-One-Variant
    out." Details see doi: https://doi.org/10.1016/j.ajhg.2021.08.012'
- id: VARITY_R_LOO_rankscore
  column_name: VARITY_R_LOO_rankscore
  type: float
  desc: VARITY_R_LOO scores were ranked among all VARITY_R_LOO scores in dbNSFP. The rankscore is the
    ratio of the rank of the score over the total number of VARITY_R_LOO scores in dbNSFP.
- id: VARITY_ER_LOO_score
  column_name: VARITY_ER_LOO_score
  type: str
  desc: '"Same as VARITY_ER except the prediction on the variants used for training was made using Leave-One-Variant
    out." Details see https://doi.org/10.1016/j.ajhg.2021.08.012'
- id: VARITY_ER_LOO_rankscore
  column_name: VARITY_ER_LOO_rankscore
  type: float
  desc: VARITY_ER_LOO scores were ranked among all VARITY_ER_LOO scores in dbNSFP. The rankscore is the
    ratio of the rank of the score over the total number of VARITY_ER_LOO scores in dbNSFP.
- id: ESM1b_score
  column_name: ESM1b_score
  type: str
  desc: 'ESM1b scores are log-likelihood ratio (LLR) scores for predicting the pathogenic effects of coding
    variants based on a 650-million-parameter protein language model, ESM1b. The range of ESM1b score
    in dbNSFP is from -24.538 to 6.937. The smaller the score, the more likely the variant is pathogenic.
    Details see doi: https://doi.org/10.1038/s41588-023-01465-0'
- id: ESM1b_rankscore
  column_name: ESM1b_rankscore
  type: float
  desc: ESM1b scores were firstly negated (i.e., -ESM1b_score), then ranked among all -ESM1b_score scores
    in dbNSFP. The rankscore is the ratio of the rank of the -ESM1b_score over the total number of scores
    in dbNSFP.
- id: ESM1b_pred
  column_name: ESM1b_pred
  type: str
  desc: The authors do not recommend a threshold for separating deleterious (D) variants versus tolerated
    (T) variants. This prediction is based on the threshold of -7.5 described in their paper that yields
    a true-positive rate of 81% and a true-negative rate of 82% in their ClinVar and HGMD test datasets.
- id: EVE_score
  column_name: EVE_score
  type: str
  desc: EVE is a unsupervised model designed to predict the clinical relevance of human single amino acid
    variants by examining the sequences of various organisms throughout evolutionary history. The EVE
    score ranges from 0 to 1. The larger the score, the more likely the variant is pathogenic. Detals
    see https://doi.org/10.1038/s41586-021-04043-8.
- id: EVE_rankscore
  column_name: EVE_rankscore
  type: float
  desc: EVE scores were ranked among all EVE scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of EVE scores in dbNSFP.
- id: EVE_Class10_pred
  column_name: EVE_Class10_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 10% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class20_pred
  column_name: EVE_Class20_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 20% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class25_pred
  column_name: EVE_Class25_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 25% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class30_pred
  column_name: EVE_Class30_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 30% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class40_pred
  column_name: EVE_Class40_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 40% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class50_pred
  column_name: EVE_Class50_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 50% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class60_pred
  column_name: EVE_Class60_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 60% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class70_pred
  column_name: EVE_Class70_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 70% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class75_pred
  column_name: EVE_Class75_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 75% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class80_pred
  column_name: EVE_Class80_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 80% as uncertain in
    a Gaussian mixture model.
- id: EVE_Class90_pred
  column_name: EVE_Class90_pred
  type: str
  desc: The EVE classification (B)enign, (U)ncertain, or (P)athogenic when setting 90% as uncertain in
    a Gaussian mixture model.
- id: AlphaMissense_score
  column_name: AlphaMissense_score
  type: str
  desc: "AlphaMissense is a unsupervised model for predicting the pathogenicity of human missense variants\
    \ by incorporating structural context of an AlphaFold-derived system. The AlphaMissense score ranges\
    \ from 0 to 1. The larger the score, the more likely the variant is pathogenic. Details see https://doi.org/10.1126/science.adg7492.\
    \ License information: Copyright (2023) DeepMind Technologies Limited. All materials are licensed\
    \ under the Creative Commons Attribution 4.0 International License (CC-BY) (the \u201CLicense\u201D\
    ).  You may obtain a copy of the License at: https://creativecommons.org/licenses/by/4.0/legalcode."
- id: AlphaMissense_rankscore
  column_name: AlphaMissense_rankscore
  type: float
  desc: AlphaMissense scores were ranked among all AlphaMissense scores in dbNSFP. The rankscore is the
    ratio of the rank of the AlphaMissense_score over the total number of scores in dbNSFP.
- id: AlphaMissense_pred
  column_name: AlphaMissense_pred
  type: str
  desc: The AlphaMissense classification of likely (B)enign, (A)mbiguous, or likely (P)athogenic with
- id: PHACTboost_score
  column_name: PHACTboost_score
  type: str
  desc: '"PHACTboost is a gradiatent boosting tree based classifier that combines PHACT scores with information
    from multiple sequence alignment, phylogenetic trees, and ancestral reconstruction." The range of
    the score is from 0 to 1, the larger the score the more likely the variant is pathegenic. Details
    see https://doi.org/10.1093/molbev/msae136. The authors recommend to use 0.62 as the cutoff for binary
    prediction (personal communication).'
- id: PHACTboost_rankscore
  column_name: PHACTboost_rankscore
  type: float
  desc: PHACTboost scores were ranked among all PHACTboost scores in dbNSFP. The rankscore is the ratio
    of the rank of the PHACTboost_score over the total number of scores in dbNSFP.
- id: MutFormer_score
  column_name: MutFormer_score
  type: float
  desc: '"MutFormer is an application of the BERT (Bidirectional Encoder Representations from Transformers)
    NLP (Natural Language Processing) model with an added adaptive vocabulary to protein context, for
    the purpose of predicting the effect of missense mutations on protein function."  The range of the
    score is from 0 to 1, the larger the score the more likely the variant is pathegenic. Details see
    https://doi.org/10.1016/j.xinn.2023.100487. The authors recommend to use 0.8838 as the cutoff for
    binary prediction (personal communication).'
- id: MutFormer_rankscore
  column_name: MutFormer_rankscore
  type: float
  desc: MutFormer scores were ranked among all MutFormer scores in dbNSFP. The rankscore is the ratio
    of the rank of the MutFormer_score over the total number of scores in dbNSFP.
- id: MutScore_score
  column_name: MutScore_score
  type: float
  desc: MutScore is an ensemble score which integerate multiple unsupervised scores for DNA substitutions
    with additional positional clustering information. The range of the score is from 0 to 1, the larger
    the score the more likely the variant is pathegenic. Details see https://doi.org/10.1016/j.ajhg.2022.01.006.
    The authors recommend to use 0.5 as the cutoff for binary prediction (personal communication).
- id: MutScore_rankscore
  column_name: MutScore_rankscore
  type: float
  desc: MutScore scores were ranked among all MutScore scores in dbNSFP. The rankscore is the ratio of
    the rank of the MutScore_score over the total number of scores in dbNSFP.
- id: Aloft_Fraction_transcripts_affected
  column_name: Aloft_Fraction_transcripts_affected
  type: str
  desc: the fraction of the transcripts of the gene affected i.e. No. of transcripts affected by the SNP/Total
    no. of protein_coding transcripts for the gene multiple values separated by ";", corresponding to
    Ensembl_proteinid.
- id: Aloft_prob_Tolerant
  column_name: Aloft_prob_Tolerant
  type: str
  desc: Probability of the SNP being classified as benign by ALoFT multiple values separated by ";", corresponding
    to Ensembl_proteinid.
- id: Aloft_prob_Recessive
  column_name: Aloft_prob_Recessive
  type: str
  desc: Probability of the SNP being classified as recessive disease-causing by ALoFT multiple values
    separated by ";", corresponding to Ensembl_proteinid.
- id: Aloft_prob_Dominant
  column_name: Aloft_prob_Dominant
  type: str
  desc: Probability of the SNP being classified as dominant disease-causing by ALoFT multiple values separated
    by ";", corresponding to Ensembl_proteinid.
- id: Aloft_pred
  column_name: Aloft_pred
  type: str
  desc: final classification predicted by ALoFT; values can be Tolerant, Recessive or Dominant multiple
    values separated by ";", corresponding to Ensembl_proteinid.
- id: Aloft_Confidence
  column_name: Aloft_Confidence
  type: str
  desc: Confidence level of Aloft_pred; values can be "High Confidence" (p < 0.05) or "Low Confidence"
    (p > 0.05) multiple values separated by ";", corresponding to Ensembl_proteinid.
- id: CADD_raw
  column_name: CADD_raw
  type: float
  desc: 'CADD raw score for functional prediction of a SNP. Please refer to Kircher et al. (2014) Nature
    Genetics 46(3):310-5 for details. The larger the score the more likely the SNP has damaging effect.
    Scores range from -28.377575 to 25.511592 in dbNSFP. Please note the following copyright statement
    for CADD: "CADD scores (http://cadd.gs.washington.edu/) are Copyright 2013 University of Washington
    and Hudson-Alpha Institute for Biotechnology (all rights reserved) but are freely available for all
    academic, non-commercial applications. For commercial licensing information contact Jennifer McCullar
    (mccullaj@uw.edu)."'
- id: CADD_raw_rankscore
  column_name: CADD_raw_rankscore
  type: float
  desc: 'CADD raw scores were ranked among all CADD raw scores in dbNSFP. The rankscore is the ratio of
    the rank of the score over the total number of CADD raw scores in dbNSFP. Please note the following
    copyright statement for CADD: "CADD scores (http://cadd.gs.washington.edu/) are Copyright 2013 University
    of Washington and Hudson-Alpha Institute for Biotechnology (all rights reserved) but are freely available
    for all academic, non-commercial applications. For commercial licensing information contact Jennifer
    McCullar (mccullaj@uw.edu)."'
- id: CADD_phred
  column_name: CADD_phred
  type: float
  desc: 'CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores. Please
    refer to Kircher et al. (2014) Nature Genetics 46(3):310-5 for details. The larger the score the more
    likely the SNP has damaging effect. Please note the following copyright statement for CADD: "CADD
    scores (http://cadd.gs.washington.edu/) are Copyright 2013 University of Washington and Hudson-Alpha
    Institute for Biotechnology (all rights reserved) but are freely available for all academic, non-commercial
    applications. For commercial licensing information contact Jennifer McCullar (mccullaj@uw.edu)."'
- id: CADD_raw_hg19
  column_name: CADD_raw_hg19
  type: float
  desc: 'CADD raw score for functional prediction of a SNP using the hg19 model. Please refer to Kircher
    et al. (2014) Nature Genetics 46(3):310-5 for details. The larger the score the more likely the SNP
    has damaging effect. Scores range from -9.777566 to 30.05914 in dbNSFP. Please note the following
    copyright statement for CADD: "CADD scores (http://cadd.gs.washington.edu/) are Copyright 2013 University
    of Washington and Hudson-Alpha Institute for Biotechnology (all rights reserved) but are freely available
    for all academic, non-commercial applications. For commercial licensing information contact Jennifer
    McCullar (mccullaj@uw.edu)."'
- id: CADD_raw_rankscore_hg19
  column_name: CADD_raw_rankscore_hg19
  type: float
  desc: 'CADD raw scores were ranked among all CADD_raw_hg19 in dbNSFP. The rankscore is the ratio of
    the rank of the score over the total number of CADD raw scores in dbNSFP. Please note the following
    copyright statement for CADD: "CADD scores (http://cadd.gs.washington.edu/) are Copyright 2013 University
    of Washington and Hudson-Alpha Institute for Biotechnology (all rights reserved) but are freely available
    for all academic, non-commercial applications. For commercial licensing information contact Jennifer
    McCullar (mccullaj@uw.edu)."'
- id: CADD_phred_hg19
  column_name: CADD_phred_hg19
  type: float
  desc: CADD phred-like score using the hg19 model. This is phred-like rank score based on whole genome
    CADD raw scores. Please refer to Kircher et al. (2014) Nature Genetics
- id: DANN_score
  column_name: DANN_score
  type: float
  desc: 'DANN is a functional prediction score retrained based on the training data of CADD using deep
    neural network. Scores range from 0 to 1. A larger number indicate a higher probability to be damaging.
    More information of this score can be found in doi: 10.1093/bioinformatics/btu703.'
- id: DANN_rankscore
  column_name: DANN_rankscore
  type: float
  desc: DANN scores were ranked among all DANN scores in dbNSFP. The rankscore is the ratio of the rank
    of the score over the total number of DANN scores in dbNSFP.
- id: fathmm-MKL_coding_score
  column_name: fathmm-MKL_coding_score
  type: float
  desc: 'fathmm-MKL p-values. Scores range from 0 to 1. SNVs with scores >0.5 are predicted to be deleterious,
    and those <0.5 are predicted to be neutral or benign. Scores close to 0 or 1 are with the highest-confidence.
    Coding scores are trained using 10 groups of features. More details of the score can be found in doi:
    10.1093/bioinformatics/btv009.'
- id: fathmm-MKL_coding_rankscore
  column_name: fathmm-MKL_coding_rankscore
  type: float
  desc: fathmm-MKL coding scores were ranked among all fathmm-MKL coding scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of fathmm-MKL coding scores in dbNSFP.
- id: fathmm-MKL_coding_pred
  column_name: fathmm-MKL_coding_pred
  type: str
  desc: If a fathmm-MKL_coding_score is >0.5 (or rankscore >0.28317) the corresponding nsSNV is predicted
    as "D(AMAGING)"; otherwise it is predicted as "N(EUTRAL)".
- id: fathmm-MKL_coding_group
  column_name: fathmm-MKL_coding_group
  type: str
  desc: 'the groups of features (labeled A-J) used to obtained the score. More details can be found in
    doi: 10.1093/bioinformatics/btv009.'
- id: fathmm-XF_coding_score
  column_name: fathmm-XF_coding_score
  type: float
  desc: 'fathmm-XF p-values. Scores range from 0 to 1. SNVs with scores >0.5 are predicted to be deleterious,
    and those <0.5 are predicted to be neutral or benign. Scores close to 0 or 1 are with the highest-confidence.
    Coding scores are trained using 10 groups of features. More details of the score can be found in doi:
    10.1093/bioinformatics/btx536.'
- id: fathmm-XF_coding_rankscore
  column_name: fathmm-XF_coding_rankscore
  type: float
  desc: fathmm-XF coding scores were ranked among all fathmm-XF coding scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of fathmm-XF coding scores in dbNSFP.
- id: fathmm-XF_coding_pred
  column_name: fathmm-XF_coding_pred
  type: str
  desc: If a fathmm-XF_coding_score is >0.5, the corresponding nsSNV is predicted as "D(AMAGING)"; otherwise
    it is predicted as "N(EUTRAL)".
- id: Eigen-raw_coding
  column_name: Eigen-raw_coding
  type: float
  desc: 'Eigen score for coding SNVs. A functional prediction score based on conservation, allele frequencies,
    and deleteriousness prediction using an unsupervised learning method (doi: 10.1038/ng.3477).'
- id: Eigen-raw_coding_rankscore
  column_name: Eigen-raw_coding_rankscore
  type: float
  desc: Eigen-raw scores were ranked among all Eigen-raw scores in dbNSFP. The rankscore is the ratio
    of the rank of the score over the total number of Eigen-raw scores in dbNSFP.
- id: Eigen-phred_coding
  column_name: Eigen-phred_coding
  type: float
  desc: Eigen score in phred scale.
- id: Eigen-PC-raw_coding
  column_name: Eigen-PC-raw_coding
  type: float
  desc: 'Eigen PC score for genome-wide SNVs. A functional prediction score based on conservation, allele
    frequencies, deleteriousness prediction (for missense SNVs) and epigenomic signals (for synonymous
    and non-coding SNVs) using an unsupervised learning method (doi: 10.1038/ng.3477).'
- id: Eigen-PC-raw_coding_rankscore
  column_name: Eigen-PC-raw_coding_rankscore
  type: float
  desc: Eigen-PC-raw scores were ranked among all Eigen-PC-raw scores in dbNSFP. The rankscore is the
    ratio of the rank of the score over the total number of Eigen-PC-raw scores in dbNSFP.
- id: Eigen-PC-phred_coding
  column_name: Eigen-PC-phred_coding
  type: float
  desc: Eigen PC score in phred scale.
- id: GenoCanyon_score
  column_name: GenoCanyon_score
  type: float
  desc: A functional prediction score based on conservation and biochemical annotations using an unsupervised
    statistical learning. (doi:10.1038/srep10576)
- id: GenoCanyon_rankscore
  column_name: GenoCanyon_rankscore
  type: float
  desc: GenoCanyon_score scores were ranked among all integrated fitCons scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of GenoCanyon_score scores in dbNSFP.
- id: integrated_fitCons_score
  column_name: integrated_fitCons_score
  type: float
  desc: fitCons score predicts the fraction of genomic positions belonging to a specific function class
    (defined by epigenomic "fingerprint") that are under selective pressure. Scores range from 0 to 1,
    with a larger score indicating a higher proportion of nucleic sites of the functional class the genomic
    position belong to are under selective pressure, therefore more likely to be functional important.
    Integrated (i6) scores are integrated across three cell types (GM12878, H1-hESC and HUVEC). More details
    can be found in doi:10.1038/ng.3196.
- id: integrated_fitCons_rankscore
  column_name: integrated_fitCons_rankscore
  type: float
  desc: integrated fitCons scores were ranked among all integrated fitCons scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of integrated fitCons scores in dbNSFP.
- id: integrated_confidence_value
  column_name: integrated_confidence_value
  type: int
  desc: 0 - highly significant scores (approx. p<.003); 1 - significant scores (approx. p<.05); 2 - informative
    scores (approx. p<.25); 3 - other scores (approx. p>=.25).
- id: GM12878_fitCons_score
  column_name: GM12878_fitCons_score
  type: float
  desc: fitCons score predicts the fraction of genomic positions belonging to a specific function class
    (defined by epigenomic "fingerprint") that are under selective pressure. Scores range from 0 to 1,
    with a larger score indicating a higher proportion of nucleic sites of the functional class the genomic
    position belong to are under selective pressure, therefore more likely to be functional important.
    GM12878 fitCons scores are based on cell type GM12878. More details can be found in doi:10.1038/ng.3196.
- id: GM12878_fitCons_rankscore
  column_name: GM12878_fitCons_rankscore
  type: float
  desc: GM12878 fitCons scores were ranked among all GM12878 fitCons scores in dbNSFP. The rankscore is
    the ratio of the rank of the score over the total number of GM12878 fitCons scores in dbNSFP.
- id: GM12878_confidence_value
  column_name: GM12878_confidence_value
  type: int
  desc: 0 - highly significant scores (approx. p<.003); 1 - significant scores (approx. p<.05); 2 - informative
    scores (approx. p<.25); 3 - other scores (approx. p>=.25).
- id: H1-hESC_fitCons_score
  column_name: H1-hESC_fitCons_score
  type: float
  desc: fitCons score predicts the fraction of genomic positions belonging to a specific function class
    (defined by epigenomic "fingerprint") that are under selective pressure. Scores range from 0 to 1,
    with a larger score indicating a higher proportion of nucleic sites of the functional class the genomic
    position belong to are under selective pressure, therefore more likely to be functional important.
    GM12878 fitCons scores are based on cell type H1-hESC. More details can be found in doi:10.1038/ng.3196.
- id: H1-hESC_fitCons_rankscore
  column_name: H1-hESC_fitCons_rankscore
  type: float
  desc: H1-hESC fitCons scores were ranked among all H1-hESC fitCons scores in dbNSFP. The rankscore is
    the ratio of the rank of the score over the total number of H1-hESC fitCons scores in dbNSFP.
- id: H1-hESC_confidence_value
  column_name: H1-hESC_confidence_value
  type: int
  desc: 0 - highly significant scores (approx. p<.003); 1 - significant scores (approx. p<.05); 2 - informative
    scores (approx. p<.25); 3 - other scores (approx. p>=.25).
- id: HUVEC_fitCons_score
  column_name: HUVEC_fitCons_score
  type: float
  desc: fitCons score predicts the fraction of genomic positions belonging to a specific function class
    (defined by epigenomic "fingerprint") that are under selective pressure. Scores range from 0 to 1,
    with a larger score indicating a higher proportion of nucleic sites of the functional class the genomic
    position belong to are under selective pressure, therefore more likely to be functional important.
    GM12878 fitCons scores are based on cell type HUVEC. More details can be found in doi:10.1038/ng.3196.
- id: HUVEC_fitCons_rankscore
  column_name: HUVEC_fitCons_rankscore
  type: float
  desc: HUVEC fitCons scores were ranked among all HUVEC fitCons scores in dbNSFP. The rankscore is the
    ratio of the rank of the score over the total number of HUVEC fitCons scores in dbNSFP.
- id: HUVEC_confidence_value
  column_name: HUVEC_confidence_value
  type: int
  desc: 0 - highly significant scores (approx. p<.003); 1 - significant scores (approx. p<.05); 2 - informative
    scores (approx. p<.25); 3 - other scores (approx. p>=.25).
- id: LINSIGHT
  column_name: LINSIGHT
  type: float
  desc: '"The LINSIGHT score measures the probability of negative selection on noncoding sites" Details
    refer to doi:10.1038/ng.3810.'
- id: LINSIGHT_rankscore
  column_name: LINSIGHT_rankscore
  type: float
  desc: LINSIGHT scores were ranked among all LINSIGHT scores in dbNSFP. The rankscore is the ratio of
    the rank of the score over the total number of LINSIGHT scores in dbNSFP.
- id: GERP++_NR
  column_name: GERP++_NR
  type: float
  desc: GERP++ neutral rate
- id: GERP++_RS
  column_name: GERP++_RS
  type: float
  desc: GERP++ RS score, the larger the score, the more conserved the site. Scores range from -12.3 to
    6.17.
- id: GERP++_RS_rankscore
  column_name: GERP++_RS_rankscore
  type: float
  desc: GERP++ RS scores were ranked among all GERP++ RS scores in dbNSFP. The rankscore is the ratio
    of the rank of the score over the total number of GERP++ RS scores in dbNSFP.
- id: GERP_91_mammals
  column_name: GERP_91_mammals
  type: float
  desc: GERP conservation score calculated based on multiple sequence alignments of 91 mammals.
- id: GERP_91_mammals_rankscore
  column_name: GERP_91_mammals_rankscore
  type: float
  desc: GERP (91 mammals) scores were ranked among all GERP (91 mammals) scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of GERP_91_mammals scores in dbNSFP.
- id: phyloP100way_vertebrate
  column_name: phyloP100way_vertebrate
  type: float
  desc: phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 100 vertebrate
    genomes (including human). The larger the score, the more conserved the site. Scores range from -20.0
    to 10.003 in dbNSFP.
- id: phyloP100way_vertebrate_rankscore
  column_name: phyloP100way_vertebrate_rankscore
  type: float
  desc: phyloP100way_vertebrate scores were ranked among all phyloP100way_vertebrate scores in dbNSFP.
    The rankscore is the ratio of the rank of the score over the total number of phyloP100way_vertebrate
    scores in dbNSFP.
- id: phyloP470way_mammalian
  column_name: phyloP470way_mammalian
  type: float
  desc: phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 470 mammalian
    genomes (including human). The larger the score, the more conserved the site. Scores range from -20
    to 11.936 in dbNSFP.
- id: phyloP470way_mammalian_rankscore
  column_name: phyloP470way_mammalian_rankscore
  type: float
  desc: phyloP470way_mammalian scores were ranked among all phyloP470way_mammalian scores in dbNSFP. The
    rankscore is the ratio of the rank of the score over the total number of phyloP470way_mammalian scores
    in dbNSFP.
- id: phyloP17way_primate
  column_name: phyloP17way_primate
  type: float
  desc: a conservation score based on 17way alignment primate set, the higher the more conservative. Scores
    range from -13.362 to 0.756 in dbNSFP.
- id: phyloP17way_primate_rankscore
  column_name: phyloP17way_primate_rankscore
  type: float
  desc: the rank of the phyloP17way_primate score among all phyloP17way_primate scores in dbNSFP.
- id: phastCons100way_vertebrate
  column_name: phastCons100way_vertebrate
  type: float
  desc: phastCons conservation score based on the multiple alignments of 100 vertebrate genomes (including
    human). The larger the score, the more conserved the site. Scores range from 0 to 1.
- id: phastCons100way_vertebrate_rankscore
  column_name: phastCons100way_vertebrate_rankscore
  type: float
  desc: phastCons100way_vertebrate scores were ranked among all phastCons100way_vertebrate scores in dbNSFP.
    The rankscore is the ratio of the rank of the score over the total number of phastCons100way_vertebrate
    scores in dbNSFP.
- id: phastCons470way_mammalian
  column_name: phastCons470way_mammalian
  type: float
  desc: phastCons conservation score based on the multiple alignments of 470 mammalian genomes (including
    human). The larger the score, the more conserved the site. Scores range from 0 to 1.
- id: phastCons470way_mammalian_rankscore
  column_name: phastCons470way_mammalian_rankscore
  type: float
  desc: phastCons470way_mammalian scores were ranked among all phastCons470way_mammalian scores in dbNSFP.
    The rankscore is the ratio of the rank of the score over the total number of phastCons470way_mammalian
    scores in dbNSFP.
- id: phastCons17way_primate
  column_name: phastCons17way_primate
  type: float
  desc: a conservation score based on 17way alignment primate set, The larger the score, the more conserved
    the site. Scores range from 0 to 1.
- id: phastCons17way_primate_rankscore
  column_name: phastCons17way_primate_rankscore
  type: float
  desc: the rank of the phastCons17way_primate score among all phastCons17way_primate scores in dbNSFP.
- id: SiPhy_29way_pi
  column_name: SiPhy_29way_pi
  type: str
  desc: The estimated stationary distribution of A, C, G and T at the site, using SiPhy algorithm based
    on 29 mammals genomes.
- id: SiPhy_29way_logOdds
  column_name: SiPhy_29way_logOdds
  type: float
  desc: SiPhy score based on 29 mammals genomes. The larger the score, the more conserved the site. Scores
    range from 0 to 37.9718 in dbNSFP.
- id: SiPhy_29way_logOdds_rankscore
  column_name: SiPhy_29way_logOdds_rankscore
  type: float
  desc: SiPhy_29way_logOdds scores were ranked among all SiPhy_29way_logOdds scores in dbNSFP. The rankscore
    is the ratio of the rank of the score over the total number of SiPhy_29way_logOdds scores in dbNSFP.
- id: bStatistic
  column_name: bStatistic
  type: int
  desc: Background selection (B) value estimates from doi.org/10.1371/journal.pgen.1000471. Ranges from
    0 to 1000. It estimates the expected fraction (*1000) of neutral diversity present at a site. Values
    close to 0 represent near complete removal of diversity as a result of background selection and values
    near 1000 indicating absent of background selection. Data from CADD v1.4.
- id: bStatistic_converted_rankscore
  column_name: bStatistic_converted_rankscore
  type: float
  desc: bStatistic scores were first converted to -bStatistic, then ranked among all -bStatistic scores
    in dbNSFP. The rankscore is the ratio of the rank of -bStatistic over the total number of -bStatistic
    scores in dbNSFP.
- id: 1000Gp3_AC
  column_name: 1000Gp3_AC
  type: int
  desc: Alternative allele counts in the whole 1000 genomes phase 3 (1000Gp3) data.
- id: 1000Gp3_AF
  column_name: 1000Gp3_AF
  type: float
  desc: Alternative allele frequency in the whole 1000Gp3 data.
- id: 1000Gp3_AFR_AC
  column_name: 1000Gp3_AFR_AC
  type: int
  desc: Alternative allele counts in the 1000Gp3 African descendent samples.
- id: 1000Gp3_AFR_AF
  column_name: 1000Gp3_AFR_AF
  type: float
  desc: Alternative allele frequency in the 1000Gp3 African descendent samples.
- id: 1000Gp3_EUR_AC
  column_name: 1000Gp3_EUR_AC
  type: int
  desc: Alternative allele counts in the 1000Gp3 European descendent samples.
- id: 1000Gp3_EUR_AF
  column_name: 1000Gp3_EUR_AF
  type: float
  desc: Alternative allele frequency in the 1000Gp3 European descendent samples.
- id: 1000Gp3_AMR_AC
  column_name: 1000Gp3_AMR_AC
  type: int
  desc: Alternative allele counts in the 1000Gp3 American descendent samples.
- id: 1000Gp3_AMR_AF
  column_name: 1000Gp3_AMR_AF
  type: float
  desc: Alternative allele frequency in the 1000Gp3 American descendent samples.
- id: 1000Gp3_EAS_AC
  column_name: 1000Gp3_EAS_AC
  type: int
  desc: Alternative allele counts in the 1000Gp3 East Asian descendent samples.
- id: 1000Gp3_EAS_AF
  column_name: 1000Gp3_EAS_AF
  type: float
  desc: Alternative allele frequency in the 1000Gp3 East Asian descendent samples.
- id: 1000Gp3_SAS_AC
  column_name: 1000Gp3_SAS_AC
  type: int
  desc: Alternative allele counts in the 1000Gp3 South Asian descendent samples.
- id: 1000Gp3_SAS_AF
  column_name: 1000Gp3_SAS_AF
  type: float
  desc: Alternative allele frequency in the 1000Gp3 South Asian descendent samples.
- id: TWINSUK_AC
  column_name: TWINSUK_AC
  type: int
  desc: Alternative allele count in called genotypes in UK10K TWINSUK cohort.
- id: TWINSUK_AF
  column_name: TWINSUK_AF
  type: float
  desc: Alternative allele frequency in called genotypes in UK10K TWINSUK cohort.
- id: ALSPAC_AC
  column_name: ALSPAC_AC
  type: int
  desc: Alternative allele count in called genotypes in UK10K ALSPAC cohort.
- id: ALSPAC_AF
  column_name: ALSPAC_AF
  type: float
  desc: Alternative allele frequency in called genotypes in UK10K ALSPAC cohort.
- id: UK10K_AC
  column_name: UK10K_AC
  type: int
  desc: Alternative allele count in combined genotypes in UK10K cohort (TWINSUK+ALSPAC).
- id: UK10K_AF
  column_name: UK10K_AF
  type: float
  desc: Alternative allele frequency in combined genotypes in UK10K cohort (TWINSUK+ALSPAC).
- id: ESP6500_AA_AC
  column_name: ESP6500_AA_AC
  type: int
  desc: Alternative allele count in the African American samples of the NHLBI GO Exome Sequencing Project
    (ESP6500 data set).
- id: ESP6500_AA_AF
  column_name: ESP6500_AA_AF
  type: float
  desc: Alternative allele frequency in the African American samples of the NHLBI GO Exome Sequencing
    Project (ESP6500 data set).
- id: ESP6500_EA_AC
  column_name: ESP6500_EA_AC
  type: int
  desc: Alternative allele count in the European American samples of the NHLBI GO Exome Sequencing Project
    (ESP6500 data set).
- id: ESP6500_EA_AF
  column_name: ESP6500_EA_AF
  type: float
  desc: Alternative allele frequency in the European American samples of the NHLBI GO Exome Sequencing
    Project (ESP6500 data set).
- id: ExAC_AC
  column_name: ExAC_AC
  type: int
  desc: Allele count in total ExAC samples (60,706 samples)
- id: ExAC_AF
  column_name: ExAC_AF
  type: float
  desc: Allele frequency in total ExAC samples
- id: ExAC_Adj_AC
  column_name: ExAC_Adj_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in total ExAC samples
- id: ExAC_Adj_AF
  column_name: ExAC_Adj_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in total ExAC samples
- id: ExAC_AFR_AC
  column_name: ExAC_AFR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in African & African American ExAC samples
- id: ExAC_AFR_AF
  column_name: ExAC_AFR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in African & African American ExAC samples
- id: ExAC_AMR_AC
  column_name: ExAC_AMR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in American ExAC samples
- id: ExAC_AMR_AF
  column_name: ExAC_AMR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in American ExAC samples
- id: ExAC_EAS_AC
  column_name: ExAC_EAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in East Asian ExAC samples
- id: ExAC_EAS_AF
  column_name: ExAC_EAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in East Asian ExAC samples
- id: ExAC_FIN_AC
  column_name: ExAC_FIN_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Finnish ExAC samples
- id: ExAC_FIN_AF
  column_name: ExAC_FIN_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Finnish ExAC samples
- id: ExAC_NFE_AC
  column_name: ExAC_NFE_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC samples
- id: ExAC_NFE_AF
  column_name: ExAC_NFE_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC samples
- id: ExAC_SAS_AC
  column_name: ExAC_SAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in South Asian ExAC samples
- id: ExAC_SAS_AF
  column_name: ExAC_SAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in South Asian ExAC samples
- id: ExAC_nonTCGA_AC
  column_name: ExAC_nonTCGA_AC
  type: int
  desc: Allele count in total ExAC_nonTCGA samples (53,105 samples)
- id: ExAC_nonTCGA_AF
  column_name: ExAC_nonTCGA_AF
  type: float
  desc: Allele frequency in total ExAC_nonTCGA samples
- id: ExAC_nonTCGA_Adj_AC
  column_name: ExAC_nonTCGA_Adj_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in total ExAC_nonTCGA samples
- id: ExAC_nonTCGA_Adj_AF
  column_name: ExAC_nonTCGA_Adj_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in total ExAC_nonTCGA samples
- id: ExAC_nonTCGA_AFR_AC
  column_name: ExAC_nonTCGA_AFR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in African & African American ExAC_nonTCGA samples
- id: ExAC_nonTCGA_AFR_AF
  column_name: ExAC_nonTCGA_AFR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in African & African American ExAC_nonTCGA
    samples
- id: ExAC_nonTCGA_AMR_AC
  column_name: ExAC_nonTCGA_AMR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in American ExAC_nonTCGA samples
- id: ExAC_nonTCGA_AMR_AF
  column_name: ExAC_nonTCGA_AMR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in American ExAC_nonTCGA samples
- id: ExAC_nonTCGA_EAS_AC
  column_name: ExAC_nonTCGA_EAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in East Asian ExAC_nonTCGA samples
- id: ExAC_nonTCGA_EAS_AF
  column_name: ExAC_nonTCGA_EAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in East Asian ExAC_nonTCGA samples
- id: ExAC_nonTCGA_FIN_AC
  column_name: ExAC_nonTCGA_FIN_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Finnish ExAC_nonTCGA samples
- id: ExAC_nonTCGA_FIN_AF
  column_name: ExAC_nonTCGA_FIN_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Finnish ExAC_nonTCGA samples
- id: ExAC_nonTCGA_NFE_AC
  column_name: ExAC_nonTCGA_NFE_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC_nonTCGA samples
- id: ExAC_nonTCGA_NFE_AF
  column_name: ExAC_nonTCGA_NFE_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC_nonTCGA samples
- id: ExAC_nonTCGA_SAS_AC
  column_name: ExAC_nonTCGA_SAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in South Asian ExAC_nonTCGA samples
- id: ExAC_nonTCGA_SAS_AF
  column_name: ExAC_nonTCGA_SAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in South Asian ExAC_nonTCGA samples
- id: ExAC_nonpsych_AC
  column_name: ExAC_nonpsych_AC
  type: int
  desc: Allele count in total ExAC_nonpsych samples (45,376 samples)
- id: ExAC_nonpsych_AF
  column_name: ExAC_nonpsych_AF
  type: float
  desc: Allele frequency in total ExAC_nonpsych samples
- id: ExAC_nonpsych_Adj_AC
  column_name: ExAC_nonpsych_Adj_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in total ExAC_nonpsych samples
- id: ExAC_nonpsych_Adj_AF
  column_name: ExAC_nonpsych_Adj_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in total ExAC_nonpsych samples
- id: ExAC_nonpsych_AFR_AC
  column_name: ExAC_nonpsych_AFR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in African & African American ExAC_nonpsych samples
- id: ExAC_nonpsych_AFR_AF
  column_name: ExAC_nonpsych_AFR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in African & African American ExAC_nonpsych
    samples
- id: ExAC_nonpsych_AMR_AC
  column_name: ExAC_nonpsych_AMR_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in American ExAC_nonpsych samples
- id: ExAC_nonpsych_AMR_AF
  column_name: ExAC_nonpsych_AMR_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in American ExAC_nonpsych samples
- id: ExAC_nonpsych_EAS_AC
  column_name: ExAC_nonpsych_EAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in East Asian ExAC_nonpsych samples
- id: ExAC_nonpsych_EAS_AF
  column_name: ExAC_nonpsych_EAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in East Asian ExAC_nonpsych samples
- id: ExAC_nonpsych_FIN_AC
  column_name: ExAC_nonpsych_FIN_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Finnish ExAC_nonpsych samples
- id: ExAC_nonpsych_FIN_AF
  column_name: ExAC_nonpsych_FIN_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Finnish ExAC_nonpsych samples
- id: ExAC_nonpsych_NFE_AC
  column_name: ExAC_nonpsych_NFE_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC_nonpsych samples
- id: ExAC_nonpsych_NFE_AF
  column_name: ExAC_nonpsych_NFE_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in Non-Finnish European ExAC_nonpsych samples
- id: ExAC_nonpsych_SAS_AC
  column_name: ExAC_nonpsych_SAS_AC
  type: int
  desc: Adjusted Alt allele counts (DP >= 10 & GQ >= 20) in South Asian ExAC_nonpsych samples
- id: ExAC_nonpsych_SAS_AF
  column_name: ExAC_nonpsych_SAS_AF
  type: float
  desc: Adjusted Alt allele frequency (DP >= 10 & GQ >= 20) in South Asian ExAC_nonpsych samples
- id: gnomAD_exomes_flag
  column_name: gnomAD_exomes_flag
  type: str
  desc: information from gnomAD exome data indicating whether the variant falling within low-complexity
    (lcr) or segmental duplication (segdup) or decoy regions. The flag can be either "." for high-quality
    PASS or not reported/polymorphic in gnomAD exomes, "lcr" for within lcr, "segdup" for within segdup,
    or "decoy" for with decoy region.
- id: gnomAD_exomes_AC
  column_name: gnomAD_exomes_AC
  type: int
  desc: Alternative allele count in the whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AN
  column_name: gnomAD_exomes_AN
  type: int
  desc: Total allele count in the whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AF
  column_name: gnomAD_exomes_AF
  type: float
  desc: Alternative allele frequency in the whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_nhomalt
  column_name: gnomAD_exomes_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_POPMAX_AC
  column_name: gnomAD_exomes_POPMAX_AC
  type: int
  desc: Allele count in the population with the maximum AF
- id: gnomAD_exomes_POPMAX_AN
  column_name: gnomAD_exomes_POPMAX_AN
  type: int
  desc: Total number of alleles in the population with the maximum AF
- id: gnomAD_exomes_POPMAX_AF
  column_name: gnomAD_exomes_POPMAX_AF
  type: float
  desc: Maximum allele frequency across populations (excluding samples of Ashkenazi, Finnish, and indeterminate
    ancestry)
- id: gnomAD_exomes_POPMAX_nhomalt
  column_name: gnomAD_exomes_POPMAX_nhomalt
  type: int
  desc: Count of homozygous individuals in the population with the maximum allele frequency
- id: gnomAD_exomes_AFR_AC
  column_name: gnomAD_exomes_AFR_AC
  type: int
  desc: Alternative allele count in the African/African American gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AFR_AN
  column_name: gnomAD_exomes_AFR_AN
  type: int
  desc: Total allele count in the African/African American gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AFR_AF
  column_name: gnomAD_exomes_AFR_AF
  type: float
  desc: Alternative allele frequency in the African/African American gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AFR_nhomalt
  column_name: gnomAD_exomes_AFR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the African/African American gnomAD
    exome samples v4.0.0
- id: gnomAD_exomes_AMR_AC
  column_name: gnomAD_exomes_AMR_AC
  type: int
  desc: Alternative allele count in the Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AMR_AN
  column_name: gnomAD_exomes_AMR_AN
  type: int
  desc: Total allele count in the Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AMR_AF
  column_name: gnomAD_exomes_AMR_AF
  type: float
  desc: Alternative allele frequency in the Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_AMR_nhomalt
  column_name: gnomAD_exomes_AMR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_ASJ_AC
  column_name: gnomAD_exomes_ASJ_AC
  type: int
  desc: Alternative allele count in the Ashkenazi Jewish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_ASJ_AN
  column_name: gnomAD_exomes_ASJ_AN
  type: int
  desc: Total allele count in the Ashkenazi Jewish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_ASJ_AF
  column_name: gnomAD_exomes_ASJ_AF
  type: float
  desc: Alternative allele frequency in the Ashkenazi Jewish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_ASJ_nhomalt
  column_name: gnomAD_exomes_ASJ_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Ashkenazi Jewish gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_EAS_AC
  column_name: gnomAD_exomes_EAS_AC
  type: int
  desc: Alternative allele count in the East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_EAS_AN
  column_name: gnomAD_exomes_EAS_AN
  type: int
  desc: Total allele count in the East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_EAS_AF
  column_name: gnomAD_exomes_EAS_AF
  type: float
  desc: Alternative allele frequency in the East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_EAS_nhomalt
  column_name: gnomAD_exomes_EAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the East Asian gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_FIN_AC
  column_name: gnomAD_exomes_FIN_AC
  type: int
  desc: Alternative allele count in the Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_FIN_AN
  column_name: gnomAD_exomes_FIN_AN
  type: int
  desc: Total allele count in the Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_FIN_AF
  column_name: gnomAD_exomes_FIN_AF
  type: float
  desc: Alternative allele frequency in the Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_FIN_nhomalt
  column_name: gnomAD_exomes_FIN_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_MID_AC
  column_name: gnomAD_exomes_MID_AC
  type: int
  desc: Alternative allele count in the Middle Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_MID_AN
  column_name: gnomAD_exomes_MID_AN
  type: int
  desc: Total allele count in the Middle Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_MID_AF
  column_name: gnomAD_exomes_MID_AF
  type: float
  desc: Alternative allele frequency in the Middle Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_MID_nhomalt
  column_name: gnomAD_exomes_MID_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Middle Eastern gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_NFE_AC
  column_name: gnomAD_exomes_NFE_AC
  type: int
  desc: Alternative allele count in the Non-Finnish European gnomAD exome samples v4.0.0
- id: gnomAD_exomes_NFE_AN
  column_name: gnomAD_exomes_NFE_AN
  type: int
  desc: Total allele count in the Non-Finnish European gnomAD exome samples v4.0.0
- id: gnomAD_exomes_NFE_AF
  column_name: gnomAD_exomes_NFE_AF
  type: float
  desc: Alternative allele frequency in the Non-Finnish European gnomAD exome samples v4.0.0
- id: gnomAD_exomes_NFE_nhomalt
  column_name: gnomAD_exomes_NFE_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Non-Finnish European gnomAD exome
    samples v4.0.0
- id: gnomAD_exomes_SAS_AC
  column_name: gnomAD_exomes_SAS_AC
  type: int
  desc: Alternative allele count in the South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_SAS_AN
  column_name: gnomAD_exomes_SAS_AN
  type: int
  desc: Total allele count in the South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_SAS_AF
  column_name: gnomAD_exomes_SAS_AF
  type: float
  desc: Alternative allele frequency in the South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_SAS_nhomalt
  column_name: gnomAD_exomes_SAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the South Asian gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_AC
  column_name: gnomAD_exomes_non_ukb_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AN
  column_name: gnomAD_exomes_non_ukb_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AF
  column_name: gnomAD_exomes_non_ukb_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of whole gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_nhomalt
  column_name: gnomAD_exomes_non_ukb_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of whole gnomAD
    exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AFR_AC
  column_name: gnomAD_exomes_non_ukb_AFR_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of African/African American gnomAD exome
    samples v4.0.0
- id: gnomAD_exomes_non_ukb_AFR_AN
  column_name: gnomAD_exomes_non_ukb_AFR_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of African/African American gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_AFR_AF
  column_name: gnomAD_exomes_non_ukb_AFR_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of African/African American gnomAD exome
    samples v4.0.0
- id: gnomAD_exomes_non_ukb_AFR_nhomalt
  column_name: gnomAD_exomes_non_ukb_AFR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of African/African
    American gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AMR_AC
  column_name: gnomAD_exomes_non_ukb_AMR_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AMR_AN
  column_name: gnomAD_exomes_non_ukb_AMR_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AMR_AF
  column_name: gnomAD_exomes_non_ukb_AMR_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of Latino gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_AMR_nhomalt
  column_name: gnomAD_exomes_non_ukb_AMR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of Latino
    gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_ASJ_AC
  column_name: gnomAD_exomes_non_ukb_ASJ_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of Ashkenazi Jewish gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_ASJ_AN
  column_name: gnomAD_exomes_non_ukb_ASJ_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of Ashkenazi Jewish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_ASJ_AF
  column_name: gnomAD_exomes_non_ukb_ASJ_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of Ashkenazi Jewish gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_ASJ_nhomalt
  column_name: gnomAD_exomes_non_ukb_ASJ_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of Ashkenazi
    Jewish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_EAS_AC
  column_name: gnomAD_exomes_non_ukb_EAS_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_EAS_AN
  column_name: gnomAD_exomes_non_ukb_EAS_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_EAS_AF
  column_name: gnomAD_exomes_non_ukb_EAS_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of East Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_EAS_nhomalt
  column_name: gnomAD_exomes_non_ukb_EAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of East Asian
    gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_FIN_AC
  column_name: gnomAD_exomes_non_ukb_FIN_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_FIN_AN
  column_name: gnomAD_exomes_non_ukb_FIN_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_FIN_AF
  column_name: gnomAD_exomes_non_ukb_FIN_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of Finnish gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_FIN_nhomalt
  column_name: gnomAD_exomes_non_ukb_FIN_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of Finnish
    gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_MID_AC
  column_name: gnomAD_exomes_non_ukb_MID_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of Middle Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_MID_AN
  column_name: gnomAD_exomes_non_ukb_MID_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of Middle Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_MID_AF
  column_name: gnomAD_exomes_non_ukb_MID_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of Middle Eastern gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_MID_nhomalt
  column_name: gnomAD_exomes_non_ukb_MID_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of Middle
    Eastern gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_NFE_AC
  column_name: gnomAD_exomes_non_ukb_NFE_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of Non-Finnish European gnomAD exome samples
    v4.0.0
- id: gnomAD_exomes_non_ukb_NFE_AN
  column_name: gnomAD_exomes_non_ukb_NFE_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of Non-Finnish European gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_NFE_AF
  column_name: gnomAD_exomes_non_ukb_NFE_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of Non-Finnish European gnomAD exome
    samples v4.0.0
- id: gnomAD_exomes_non_ukb_NFE_nhomalt
  column_name: gnomAD_exomes_non_ukb_NFE_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of Non-Finnish
    European gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_SAS_AC
  column_name: gnomAD_exomes_non_ukb_SAS_AC
  type: int
  desc: Alternative allele count in the non-UKBiobank subset of South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_SAS_AN
  column_name: gnomAD_exomes_non_ukb_SAS_AN
  type: int
  desc: Total allele count in the non-UKBiobank subset of South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_SAS_AF
  column_name: gnomAD_exomes_non_ukb_SAS_AF
  type: float
  desc: Alternative allele frequency in the non-UKBiobank subset of South Asian gnomAD exome samples v4.0.0
- id: gnomAD_exomes_non_ukb_SAS_nhomalt
  column_name: gnomAD_exomes_non_ukb_SAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the non-UKBiobank subset of South Asian
    gnomAD exome samples v4.0.0
- id: gnomAD_genomes_flag
  column_name: gnomAD_genomes_flag
  type: str
  desc: information from gnomAD genome data indicating whether the variant falling within low-complexity
    (lcr) or segmental duplication (segdup) or decoy regions. The flag can be either "." for high-quality
    PASS or not reported/polymorphic in gnomAD exomes, "lcr" for within lcr, "segdup" for within segdup,
    or "decoy" for with decoy region.
- id: gnomAD_genomes_AC
  column_name: gnomAD_genomes_AC
  type: int
  desc: Alternative allele count in the whole gnomAD genome samples v4.0.0 For mtDNA, this is sum of AC_hom
    ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele count
    restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AN
  column_name: gnomAD_genomes_AN
  type: int
  desc: Total allele count in the whole gnomAD genome samples v4.0.0
- id: gnomAD_genomes_AF
  column_name: gnomAD_genomes_AF
  type: float
  desc: Alternative allele frequency in the whole gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_nhomalt
  column_name: gnomAD_genomes_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the whole gnomAD genome samples v4.0.0
    For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95")
- id: gnomAD_genomes_POPMAX_AC
  column_name: gnomAD_genomes_POPMAX_AC
  type: int
  desc: Allele count in the population with the maximum AF
- id: gnomAD_genomes_POPMAX_AN
  column_name: gnomAD_genomes_POPMAX_AN
  type: int
  desc: Total number of alleles in the population with the maximum AF
- id: gnomAD_genomes_POPMAX_AF
  column_name: gnomAD_genomes_POPMAX_AF
  type: float
  desc: Maximum allele frequency across populations (excluding samples of Ashkenazi, Finnish, and indeterminate
    ancestry)
- id: gnomAD_genomes_POPMAX_nhomalt
  column_name: gnomAD_genomes_POPMAX_nhomalt
  type: int
  desc: Count of homozygous individuals in the population with the maximum allele frequency
- id: gnomAD_genomes_AFR_AC
  column_name: gnomAD_genomes_AFR_AC
  type: int
  desc: Alternative allele count in the African/African American gnomAD genome samples v4.0.0 For mtDNA,
    this is sum of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and
    AC_het ("Allele count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AFR_AN
  column_name: gnomAD_genomes_AFR_AN
  type: int
  desc: Total allele count in the African/African American gnomAD genome samples v4.0.0
- id: gnomAD_genomes_AFR_AF
  column_name: gnomAD_genomes_AFR_AF
  type: float
  desc: Alternative allele frequency in the African/African American gnomAD genome samples v4.0.0 For
    mtDNA, this is sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >=
    0.95") and AF_het ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and
    < 0.95")
- id: gnomAD_genomes_AFR_nhomalt
  column_name: gnomAD_genomes_AFR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the African/African American gnomAD
    genome samples v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy
    level >= 0.95")
- id: gnomAD_genomes_AMI_AC
  column_name: gnomAD_genomes_AMI_AC
  type: int
  desc: Alternative allele count in the Amish gnomAD genome samples v4.0.0 For mtDNA, this is sum of AC_hom
    ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele count
    restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AMI_AN
  column_name: gnomAD_genomes_AMI_AN
  type: int
  desc: Total allele count in the Amish gnomAD genome samples v4.0.0
- id: gnomAD_genomes_AMI_AF
  column_name: gnomAD_genomes_AMI_AF
  type: float
  desc: Alternative allele frequency in the Amish gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AMI_nhomalt
  column_name: gnomAD_genomes_AMI_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Amish gnomAD genome samples v4.0.0
    For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95")
- id: gnomAD_genomes_AMR_AC
  column_name: gnomAD_genomes_AMR_AC
  type: int
  desc: Alternative allele count in the Latino gnomAD genome samples v4.0.0 For mtDNA, this is sum of
    AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele
    count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AMR_AN
  column_name: gnomAD_genomes_AMR_AN
  type: int
  desc: Total allele count in the Latino gnomAD genome samples v4.0.0
- id: gnomAD_genomes_AMR_AF
  column_name: gnomAD_genomes_AMR_AF
  type: float
  desc: Alternative allele frequency in the Latino gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_AMR_nhomalt
  column_name: gnomAD_genomes_AMR_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Latino gnomAD genome samples v4.0.0
    For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95")
- id: gnomAD_genomes_ASJ_AC
  column_name: gnomAD_genomes_ASJ_AC
  type: int
  desc: Alternative allele count in the Ashkenazi Jewish gnomAD genome samples v4.0.0 For mtDNA, this
    is sum of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het
    ("Allele count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_ASJ_AN
  column_name: gnomAD_genomes_ASJ_AN
  type: int
  desc: Total allele count in the Ashkenazi Jewish gnomAD genome samples v4.0.0
- id: gnomAD_genomes_ASJ_AF
  column_name: gnomAD_genomes_ASJ_AF
  type: float
  desc: Alternative allele frequency in the Ashkenazi Jewish gnomAD genome samples v4.0.0 For mtDNA, this
    is sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and
    AF_het ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_ASJ_nhomalt
  column_name: gnomAD_genomes_ASJ_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Ashkenazi Jewish gnomAD genome
    samples v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy
    level >= 0.95")
- id: gnomAD_genomes_EAS_AC
  column_name: gnomAD_genomes_EAS_AC
  type: int
  desc: Alternative allele count in the East Asian gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele
    count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_EAS_AN
  column_name: gnomAD_genomes_EAS_AN
  type: int
  desc: Total allele count in the East Asian gnomAD genome samples v4.0.0
- id: gnomAD_genomes_EAS_AF
  column_name: gnomAD_genomes_EAS_AF
  type: float
  desc: Alternative allele frequency in the East Asian gnomAD genome samples v4.0.0 For mtDNA, this is
    sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_EAS_nhomalt
  column_name: gnomAD_genomes_EAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the East Asian gnomAD genome samples
    v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >=
    0.95")
- id: gnomAD_genomes_FIN_AC
  column_name: gnomAD_genomes_FIN_AC
  type: int
  desc: Alternative allele count in the Finnish gnomAD genome samples v4.0.0 For mtDNA, this is sum of
    AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele
    count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_FIN_AN
  column_name: gnomAD_genomes_FIN_AN
  type: int
  desc: Total allele count in the Finnish gnomAD genome samples v4.0.0
- id: gnomAD_genomes_FIN_AF
  column_name: gnomAD_genomes_FIN_AF
  type: float
  desc: Alternative allele frequency in the Finnish gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_FIN_nhomalt
  column_name: gnomAD_genomes_FIN_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Finnish gnomAD genome samples v4.0.0
    For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95")
- id: gnomAD_genomes_MID_AC
  column_name: gnomAD_genomes_MID_AC
  type: int
  desc: Alternative allele count in the Middle Eastern gnomAD genome samples v4.0.0 For mtDNA, this is
    sum of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het
    ("Allele count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_MID_AN
  column_name: gnomAD_genomes_MID_AN
  type: int
  desc: Total allele count in the Middle Eastern gnomAD genome samples v4.0.0
- id: gnomAD_genomes_MID_AF
  column_name: gnomAD_genomes_MID_AF
  type: float
  desc: Alternative allele frequency in the Middle Eastern gnomAD genome samples v4.0.0 For mtDNA, this
    is sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and
    AF_het ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_MID_nhomalt
  column_name: gnomAD_genomes_MID_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Middle Eastern gnomAD genome samples
    v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >=
    0.95")
- id: gnomAD_genomes_NFE_AC
  column_name: gnomAD_genomes_NFE_AC
  type: int
  desc: Alternative allele count in the Non-Finnish European gnomAD genome samples v4.0.0 For mtDNA, this
    is sum of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het
    ("Allele count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_NFE_AN
  column_name: gnomAD_genomes_NFE_AN
  type: int
  desc: Total allele count in the Non-Finnish European gnomAD genome samples v4.0.0
- id: gnomAD_genomes_NFE_AF
  column_name: gnomAD_genomes_NFE_AF
  type: float
  desc: Alternative allele frequency in the Non-Finnish European gnomAD genome samples v4.0.0 For mtDNA,
    this is sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95")
    and AF_het ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_NFE_nhomalt
  column_name: gnomAD_genomes_NFE_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the Non-Finnish European gnomAD genome
    samples v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy
    level >= 0.95")
- id: gnomAD_genomes_SAS_AC
  column_name: gnomAD_genomes_SAS_AC
  type: int
  desc: Alternative allele count in the South Asian gnomAD genome samples v4.0.0 For mtDNA, this is sum
    of AC_hom ("Allele count restricted to variants with a heteroplasmy level >= 0.95") and AC_het ("Allele
    count restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_SAS_AN
  column_name: gnomAD_genomes_SAS_AN
  type: int
  desc: Total allele count in the South Asian gnomAD genome samples v4.0.0
- id: gnomAD_genomes_SAS_AF
  column_name: gnomAD_genomes_SAS_AF
  type: float
  desc: Alternative allele frequency in the South Asian gnomAD genome samples v4.0.0 For mtDNA, this is
    sum of AF_hom ("Allele frequency restricted to variants with a heteroplasmy level >= 0.95") and AF_het
    ("Allele frequency restricted to variants with a heteroplasmy level >= 0.10 and < 0.95")
- id: gnomAD_genomes_SAS_nhomalt
  column_name: gnomAD_genomes_SAS_nhomalt
  type: int
  desc: Count of individuals with homozygous alternative allele in the South Asian gnomAD genome samples
    v4.0.0 For mtDNA, this is AC_hom ("Allele count restricted to variants with a heteroplasmy level >=
    0.95")
- id: ALFA_European_AC
  column_name: ALFA_European_AC
  type: int
  desc: Alternative allele count of the European samples in the Allele Frequency Aggregator
- id: ALFA_European_AN
  column_name: ALFA_European_AN
  type: int
  desc: Total allele count of the European samples in the Allele Frequency Aggregator
- id: ALFA_European_AF
  column_name: ALFA_European_AF
  type: float
  desc: Alternative allele frequency of the European samples in the Allele Frequency Aggregator
- id: ALFA_African_Others_AC
  column_name: ALFA_African_Others_AC
  type: int
  desc: Alternative allele count of the individuals with African ancestry in the Allele Frequency Aggregator
- id: ALFA_African_Others_AN
  column_name: ALFA_African_Others_AN
  type: int
  desc: Total allele count of the individuals with African ancestry in the Allele Frequency Aggregator
- id: ALFA_African_Others_AF
  column_name: ALFA_African_Others_AF
  type: float
  desc: Alternative allele frequency of the individuals with African ancestry in the Allele Frequency
    Aggregator
- id: ALFA_East_Asian_AC
  column_name: ALFA_East_Asian_AC
  type: int
  desc: Alternative allele count of the East Asian samples in the Allele Frequency Aggregator
- id: ALFA_East_Asian_AN
  column_name: ALFA_East_Asian_AN
  type: int
  desc: Total allele count of the East Asian samples in the Allele Frequency Aggregator
- id: ALFA_East_Asian_AF
  column_name: ALFA_East_Asian_AF
  type: float
  desc: Alternative allele frequency of the East Asian samples in the Allele Frequency Aggregator
- id: ALFA_African_American_AC
  column_name: ALFA_African_American_AC
  type: int
  desc: Alternative allele count of the African American samples in the Allele Frequency Aggregator
- id: ALFA_African_American_AN
  column_name: ALFA_African_American_AN
  type: int
  desc: Total allele count of the African American samples in the Allele Frequency Aggregator
- id: ALFA_African_American_AF
  column_name: ALFA_African_American_AF
  type: float
  desc: Alternative allele frequency of the African American samples in the Allele Frequency Aggregator
- id: ALFA_Latin_American_1_AC
  column_name: ALFA_Latin_American_1_AC
  type: int
  desc: Alternative allele count of the Latin American individiuals with Afro-Caribbean ancestry in the
    Allele Frequency Aggregator
- id: ALFA_Latin_American_1_AN
  column_name: ALFA_Latin_American_1_AN
  type: int
  desc: Total allele count of the Latin American individiuals with Afro-Caribbean ancestry in the Allele
    Frequency Aggregator
- id: ALFA_Latin_American_1_AF
  column_name: ALFA_Latin_American_1_AF
  type: float
  desc: Alternative allele frequency of the Latin American individiuals with Afro-Caribbean ancestry in
    the Allele Frequency Aggregator
- id: ALFA_Latin_American_2_AC
  column_name: ALFA_Latin_American_2_AC
  type: int
  desc: Alternative allele count of the Latin American individiuals with mostly European and Native American
    Ancestry in the Allele Frequency Aggregator
- id: ALFA_Latin_American_2_AN
  column_name: ALFA_Latin_American_2_AN
  type: int
  desc: Total allele count of the Latin American individiuals with mostly European and Native American
    Ancestry in the Allele Frequency Aggregator
- id: ALFA_Latin_American_2_AF
  column_name: ALFA_Latin_American_2_AF
  type: float
  desc: Alternative allele frequency of the Latin American individiuals with mostly European and Native
    American Ancestry in the Allele Frequency Aggregator
- id: ALFA_Other_Asian_AC
  column_name: ALFA_Other_Asian_AC
  type: int
  desc: Alternative allele count of the Asian individiuals excluding South or East Asian in the Allele
    Frequency Aggregator
- id: ALFA_Other_Asian_AN
  column_name: ALFA_Other_Asian_AN
  type: int
  desc: Total allele count of the Asian individiuals excluding South or East Asian in the Allele Frequency
    Aggregator
- id: ALFA_Other_Asian_AF
  column_name: ALFA_Other_Asian_AF
  type: float
  desc: Alternative allele frequency of the Asian individiuals excluding South or East Asian in the Allele
    Frequency Aggregator
- id: ALFA_South_Asian_AC
  column_name: ALFA_South_Asian_AC
  type: int
  desc: Alternative allele count of the South Asian samples in the Allele Frequency Aggregator
- id: ALFA_South_Asian_AN
  column_name: ALFA_South_Asian_AN
  type: int
  desc: Total allele count of the South Asian samples in the Allele Frequency Aggregator
- id: ALFA_South_Asian_AF
  column_name: ALFA_South_Asian_AF
  type: float
  desc: Alternative allele frequency of the South Asian samples in the Allele Frequency Aggregator
- id: ALFA_Other_AC
  column_name: ALFA_Other_AC
  type: int
  desc: Alternative allele count of the samples whose self-reported population is inconsistent with the
    GRAF-assigned population in the Allele Frequency Aggregator
- id: ALFA_Other_AN
  column_name: ALFA_Other_AN
  type: int
  desc: Total allele count of the samples whose self-reported population is inconsistent with the GRAF-assigned
    population in the Allele Frequency Aggregator
- id: ALFA_Other_AF
  column_name: ALFA_Other_AF
  type: float
  desc: Alternative allele frequency of the samples whose self-reported population is inconsistent with
    the GRAF-assigned population in the Allele Frequency Aggregator
- id: ALFA_African_AC
  column_name: ALFA_African_AC
  type: int
  desc: Alternative allele count of the all African samples (African_Others and African_American) in the
    Allele Frequency Aggregator
- id: ALFA_African_AN
  column_name: ALFA_African_AN
  type: int
  desc: Total allele count of the all African samples (African_Others and African_American) in the Allele
    Frequency Aggregator
- id: ALFA_African_AF
  column_name: ALFA_African_AF
  type: float
  desc: Alternative allele frequency of the all African samples (African_Others and African_American)
    in the Allele Frequency Aggregator
- id: ALFA_Asian_AC
  column_name: ALFA_Asian_AC
  type: int
  desc: Alternative allele count of the all Asian individuals (East_Asian and Other_Asian, excluding South_Asian)
    in the Allele Frequency Aggregator
- id: ALFA_Asian_AN
  column_name: ALFA_Asian_AN
  type: int
  desc: Total allele count of the all Asian individuals (East_Asian and Other_Asian, excluding South_Asian)
    in the Allele Frequency Aggregator
- id: ALFA_Asian_AF
  column_name: ALFA_Asian_AF
  type: float
  desc: Alternative allele frequency of the all Asian individuals (East_Asian and Other_Asian, excluding
    South_Asian) in the Allele Frequency Aggregator
- id: ALFA_Total_AC
  column_name: ALFA_Total_AC
  type: int
  desc: Alternative allele count of the total samples in the Allele Frequency Aggregator
- id: ALFA_Total_AN
  column_name: ALFA_Total_AN
  type: int
  desc: Total allele count of the total samples in the Allele Frequency Aggregator
- id: ALFA_Total_AF
  column_name: ALFA_Total_AF
  type: float
  desc: Alternative allele frequency of the total samples in the Allele Frequency Aggregator
- id: clinvar_id
  column_name: clinvar_id
  type: int
  desc: clinvar variation ID
- id: clinvar_clnsig
  column_name: clinvar_clnsig
  type: str
  desc: 'clinical significance by clinvar Possible values: Benign, Likely_benign, Likely_pathogenic, Pathogenic,
    drug_response, histocompatibility. A negative score means the score is for the ref allele'
- id: clinvar_trait
  column_name: clinvar_trait
  type: str
  desc: the trait/disease the clinvar_clnsig referring to
- id: clinvar_review
  column_name: clinvar_review
  type: str
  desc: 'ClinVar Review Status summary Possible values:  no assertion criteria provided, criteria provided,
    single submitter, criteria provided, multiple submitters, no conflicts, reviewed by expert panel,
    practice guideline'
- id: clinvar_hgvs
  column_name: clinvar_hgvs
  type: str
  desc: variant in HGVS format
- id: clinvar_var_source
  column_name: clinvar_var_source
  type: str
  desc: source of the variant
- id: clinvar_MedGen_id
  column_name: clinvar_MedGen_id
  type: str
  desc: MedGen ID of the trait/disease the clinvar_trait referring to
- id: clinvar_OMIM_id
  column_name: clinvar_OMIM_id
  type: str
  desc: OMIM ID of the trait/disease the clinvar_trait referring to
- id: clinvar_Orphanet_id
  column_name: clinvar_Orphanet_id
  type: str
  desc: Orphanet ID of the trait/disease the clinvar_trait referring to
- id: Interpro_domain
  column_name: Interpro_domain
  type: str
  desc: domain or conserved site on which the variant locates. Domain annotations come from Interpro database.
    The number in the brackets following a specific domain is the count of times Interpro assigns the
    variant position to that domain, typically coming from different predicting databases. Multiple entries
    separated by ";".
- id: GTEx_V8_eQTL_gene
  column_name: GTEx_V8_eQTL_gene
  type: str
  desc: target gene of the (significant) eQTL SNP
- id: GTEx_V8_eQTL_tissue
  column_name: GTEx_V8_eQTL_tissue
  type: str
  desc: tissue type of the expression data with which the eQTL/gene pair is detected
- id: GTEx_V8_sQTL_gene
  column_name: GTEx_V8_sQTL_gene
  type: str
  desc: target gene of the (significant) sQTL SNP
- id: GTEx_V8_sQTL_tissue
  column_name: GTEx_V8_sQTL_tissue
  type: str
  desc: tissue type of the expression data with which the sQTL/gene pair is detected
- id: eQTLGen_snp_id
  column_name: eQTLGen_snp_id
  type: str
  desc: id of the eQTL SNP
- id: eQTLGen_gene_id
  column_name: eQTLGen_gene_id
  type: str
  desc: id of the target gene of the (significant) eQTL SNP
- id: eQTLGen_gene_symbol
  column_name: eQTLGen_gene_symbol
  type: str
  desc: symbol of the target gene of the (significant) eQTL SNP
- id: eQTLGen_cis_or_trans
  column_name: eQTLGen_cis_or_trans
  type: str
  desc: eQTL type, cis or trans
- id: Geuvadis_eQTL_target_gene
  column_name: Geuvadis_eQTL_target_gene
  type: str
  desc: 'Ensembl gene ID of the eQTL associated with, from the Geuvadis project Note 1: Missing data is
    designated as ''.''. Columns of dbNSFP_gene: Gene_name: Gene symbol from HGNC Ensembl_gene: Ensembl
    gene id (from HGNC) chr: Chromosome number (from HGNC)'
