SequenceVariantsCriteria

This section describes the Sequence Variants criteria classes.

Name Description Required Schema Default
exclude   false boolean false
radioOptionMode Indicates the mode selected. The possible modes are VAR_IN_SELECTED_GENES, SELECTED_GEN_VARS, VARS_IN_GEN_REGION, ZYGOSITY and GENOTYPE false enum (VAR_IN_SELECTED_GENES, SELECTED_GEN_VARS, VARS_IN_GEN_REGION, ZYGOSITY, GENOTYPE)  
genotypeScenario

This option lets you search for patients/subjects having genotypes in specific combination. You can search for combinations :

  • WILDTYPE_WILDTYPE,WILDTYPE_MUTANT,MUTANT1_MUTANT1,MUTANT1_MUTANT2

  • Homozygous reference (WILDTYPE_WILDTYPE; both genotypes are reference bases)

  • Heterozygous reference (WILDTYPE_MUTANT; one genotype is reference and other is variant)

  • Homozygous variants (MUTANT1_MUTANT1; both genotypes having same variant)

  • Heterozygous variants (MUTANT1_MUTANT2; both genotypes having different variants)

false enum (WILDTYPE_WILDTYPE, WILDTYPE_MUTANT, MUTANT1_MUTANT1, MUTANT1_MUTANT2)  
genotypesAlignment Genotype Alignment Name false string  
genotypesPosition Genotype Position false string  
variantIdList List of Variant IDs false string array  
variantTypesList List of Variant IDs false VariantTypeAndImpact array  
polyphenSelected Indicates if PolyPhen (Polymorphism Phenotyping) must be used as a filter criteria false boolean false
polyphenPredictionValueRange   false NumberRangeFilter  
polyphenPredictionLabelList List of Nonsynonymous Substitution Scores PolyPhen (Polymorphism Phenotyping) Prediction Labels. For example, benign, unknown false string array  
polyphenTranscriptIdList List of Nonsynonymous Substitution Scores PolyPhen (Polymorphism Phenotyping) Transcript IDs false string array  
siftSelected Indicates if SIFT must be used as a filter criteria false boolean false
siftValueRange   false NumberRangeFilter  
siftLabelList List of Nonsynonymous Substitution Scores SIFT Labels. For example, benign, unknown. false string array  
siftLabelTranscriptIdList List of Nonsynonymous Substitution Scores SIFT Transcript IDs false string array  
siftReferenceVersionList List of SIFT Reference Versions false string array  
polyphenReferenceVersionList List of PolyPhen (Polymorphism Phenotyping) Reference Versions false string array  
variantStatusList List of Variant Statuses. For example, KNOWN, NOVEL false string array  
strandList List of Strands. For example, + or - false string array  
fileTypeVCFSelected Selected File Type is VCF false boolean false
fileTypeMAFSelected Selected File Type is MAF false boolean false
fileTypeCGISelected Selected File Type is CGI false boolean false
formatGQRange Range of Format GQ (Only for File Type : VCF) false NumberRangeFilter  
somaticStatusList List of Somatic Statuses (Only for File Type : VCF) false string array  
somaticScoreRange Range of Somatic Scores (Only for File Type : VCF) false NumberRangeFilter  
alleleReadCountRange Range of Allele Read Count (Only for File Type : VCF) false NumberRangeFilter  
referenceReadCountRange Range of Reference Read Count (Only for File Type : VCF) false NumberRangeFilter  
totalReadCountRange Range of Total Read Count (Only for File Type : VCF) false NumberRangeFilter  
rmsBaseQualityRange Range of RMS Base Quality (Only for File Type : VCF) false NumberRangeFilter  
rmsMappingQualityRange Range of RMS Mapping Quality (Only for File Type : VCF) false NumberRangeFilter  
adDpRatioRange Range of AD/DP Ratio (Only for File Type : VCF) false NumberRangeFilter  
mafScoreRange Range of MAF Score (Only for File Type : MAF) false NumberRangeFilter  
alleleZygosityList List of Allele Zygosities (Only for File Type : CGI) For example, homozygous, heterozygous false string array  
cgiVAFScoreRange Range of VAF Scores (Only for File Type : CGI) false NumberRangeFilter  
cgiEAFScoreRange Range of EAF Scores (Only for File Type : CGI) false NumberRangeFilter  
cgiAlleleReadCountRange Range of Allele Read Counts (Only for File Type : CGI) false NumberRangeFilter  
cgiReferenceReadCountRange Range of Reference Read Counts (Only for File Type : CGI) false NumberRangeFilter  
genotypesChromosomeId Genotype Chromosome ID false string  
genotypesVariantId Genotype Variant ID (RowWid of the Variant) false string  
genotypesVariantId2 Second Genotype Variant ID(RowWid of the Variant) false string  
zygosityList list of Zygosities false string array