Subset Code Subset Label Concept Code NCIt Preferred Term NCIt Definition CTDC Preferred Term CTDC Synonyms(s) CTDC Display Name Has CTDC Value CTDC PT for Has CTDC Value C173071 CTDC Node Terminology C70699 Biospecimen Any material sample taken from a biological entity for testing, diagnostic, propagation, treatment or research purposes, including a sample obtained from a living organism or taken from the biological object after halting of all its life functions. Biospecimen can contain one or more components including but not limited to cellular molecules, cells, tissues, organs, body fluids, embryos, and body excretory products. specimen C173071 CTDC Node Terminology C49152 Case A problem requiring investigation. case C173071 CTDC Node Terminology C71104 Clinical Trial A research study that prospectively assigns human participants or groups of humans to one or more health-related interventions to evaluate the effects on health outcomes. clinical_trial clinical trial C173071 CTDC Node Terminology C40207 Copy Number Polymorphism Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome. copy_number_variant copy number variant C173071 CTDC Node Terminology C171175 Delins Mutation A change in a nucleotide sequence where nucleotides in a reference sequence are replaced by other nucleotides and which is not a substitution, inversion or conversion. delins_variant delins variant C173071 CTDC Node Terminology C173943 Eligibility Defined by Current or Prior Therapy Therapy received prior to or concurrent with a study or trial that establishes that a subject is eligible or ineligible to participate in that study or trial, or in one of its arms. drug_eligibility_criterion drug eligibility criterion C173071 CTDC Node Terminology C173942 Eligibility Defined by Disease Diagnosis A disease diagnosis that establishes that a subject is eligible or ineligible to participate in a study, trial or arm. disease_eligibility_criterion disease eligibility criterion C173071 CTDC Node Terminology C20195 Gene Fusion Any hybrid gene formed from two previously separate genes. Such fusions occur as a result of translocation, intersititial deletion or chromosomal inversion, and often result in gene products with functions different from the two fusion partners. Gene fusions are associated frequently with hematological cancers, sarcomas and prostate cancer. Fusion || gene_fusion_variant gene fusion variant C173071 CTDC Node Terminology C172232 Immunohistochemistry Assay Report A short document that describes the data related to an immunohistochemical assay performed on a sample. ihc_assay_report ihc assay report C173071 CTDC Node Terminology C99752 Indel Mutation A mutation class that includes insertion mutations, deletion mutations and mutation events where both an insertion and a deletion has occurred. indel_variant indel variant C173071 CTDC Node Terminology C171176 Nucleic Acid Aliquot A sample comprised of nucleic acids isolated from tissues or cells derived from an experimental subject and disolved in an aqueous solution. nucleic_acid nucleic acid C173071 CTDC Node Terminology C18881 Nucleic Acid Sequencing The process of determining the sequence of purines and pyrimidines in nucleic acids and polynucleotides. sequencing_assay sequencing assay C173071 CTDC Node Terminology C15538 Protocol Treatment Arm A specific treatment plan within a clinical trial that describes the activities a subject will be involved in as he or she progresses through the study. arm C173071 CTDC Node Terminology C172231 Protocol Treatment Arm Assignment Report A short document that describes the test results and rationale that determined which treatment arm a subject was assigned to. assignment_report assignment report C173071 CTDC Node Terminology C171178 Sequence Variant Report A short document listing the sequence variants found in a sample. variant_report variant report C173071 CTDC Node Terminology C171177 Sequencing Data File An electronic file containing nucleic acid sequencing data. file C173071 CTDC Node Terminology C164674 Single Nucleotide Variant A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population. snv_variant snv variant C173071 CTDC Node Terminology C172233 Site of Metastasis The anatomical location where metastasis was detected. metastatic_site metastatic site C173072 CTDC Property Terminology C173074 Aliquot Unique Identifier A unique identifier assigned to an aliquot containing a portion of a biospecimen. aliquot_id aliquot id C173072 CTDC Property Terminology C94536 Best Overall Response The most clinically favorable response recorded from the start of the study treatment until the end of treatment. treatment_outcome treatment outcome C18058 || C18213 || C35571 || C4870 || C62222 Partial response || Stable disease || Progressive disease || Complete response || Not evaluable C173072 CTDC Property Terminology C171259 Biopsy Molecular Sample Aliquot Unique Identifier A unique identifier assigned to the aliquot of nucleic acid that was derived from a subject's biopsy. molecular_sequence_number molecular sequence number C173072 CTDC Property Terminology C171262 Biopsy Sample Unique Identifier A unique identifier assigned to a subject's biopsy sample. biopsy_sequence_number biopsy sequence number C173072 CTDC Property Terminology C173941 CTEP Short Name of Clinical Diagnosis A clinical diagnosis designation using a shortened or abbreviated form of the most granular term available for a disease in the NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) terminology. ctep_short_name ctep short name C173072 CTDC Property Terminology C123556 Cancer Cellularity Measurement The determination of the ratio of neoplastic cells compared to total cells in a sample. The measurement may be expressed as a ratio or percentage. cellularity C173072 CTDC Property Terminology C164324 Case Identifier A unique alphanumeric identifier assigned to a specific case. case_id case id Case ID C173072 CTDC Property Terminology C13202 Chromosome One of the bodies in the cell nucleus that is the bearer of genes, has the form of a delicate chromatin filament during interphase, contracts to form a compact cylinder segmented into two arms by the centromere during metaphase and anaphase stages of cell division, and is capable of reproducing its physical and chemical structure through successive cell divisions. chromosome C13204 || C13205 || C13206 || C13207 || C13208 || C13209 || C13210 || C13211 || C13212 || C13213 || C13214 || C13215 || C13216 || C13217 || C13218 || C13219 || C13220 || C13221 || C13222 || C13223 || C13224 || C13225 || C13285 || C13286 chr1 || chr10 || chr11 || chr12 || chr13 || chr14 || chr15 || chr16 || chr17 || chr18 || chr19 || chr2 || chr20 || chr21 || chr22 || chr3 || chr4 || chr5 || chr6 || chr7 || chr8 || chr9 || chrX || chrY C173072 CTDC Property Terminology C171186 Clinical Diagnosis by CTEP Disease Category A clinical diagnosis designation using a category term in the NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) terminology. ctep_category ctep category C173072 CTDC Property Terminology C171187 Clinical Diagnosis by CTEP Disease Sub-Category A clinical diagnosis designation using a sub-category term in the NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) terminology. ctep_subcategory ctep subcategory C173072 CTDC Property Terminology C172238 Clinical Trial Description A description of the clinical trial. clinical_trial_description clinical trial description Trial Description C173072 CTDC Property Terminology C172239 Clinical Trial Designation An abbreviation or short name used as an identifier for a trial. clinical_trial_designation clinical trial designation Trial Code C173072 CTDC Property Terminology C171263 Clinical Trial Long Name The complete name or title of a clinical trial. clinical_trial_long_name clinical trial long name Trial Name C173072 CTDC Property Terminology C171183 Clinical Trial Short Name An abbreviated form of the name or title of a clinical trial. clinical_trial_short_name clinical trial short name Trial Name C173072 CTDC Property Terminology C172240 Clinicaltrials.gov Identifier The unique alphanumeric identifier for a trial as assigned by the Clinicaltrials.gov Protocol Registration and Results System (PRS). clinical_trial_id clinical trial id Trial ID C173072 CTDC Property Terminology C49142 Copy Number The number of molecules of a particular type on or in a cell or part of a cell. Usually applied to specific genes or to plasmids within a bacterium. copy_number copy number C173072 CTDC Property Terminology C171275 Copy Number Median Absolute Percentage Deviation A statistical measure of the accuracy of copy number predictions made by a variant calling pipeline. mapd C173072 CTDC Property Terminology C173944 Disease Diagnosis Eligibility Criterion Identifier A unique identifier for the data item representing the disease diagnosis eligibility criterion. disease_eligibility_criterion_id disease eligibility criterion id C173072 CTDC Property Terminology C2991 Disease or Disorder Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. disease Diagnosis C173072 CTDC Property Terminology C105721 ECOG Performance Status A performance status scale designed to assess disease progression and its affect on the daily living abilities of the patient. ecog_performance_status ecog performance status C173072 CTDC Property Terminology C172272 Electronic File Content Type The nature of the content stored in an electronic file. file_type file type File Type C172877 || C172878 || C172879 || C172880 || C172881 Raw reads file || Aligned DNA reads file || Aligned RNA reads file || Index file || Variants file C173072 CTDC Property Terminology C171190 Electronic File Description A free text field that can be used to document details about an electronic file that may not be captured elsewhere. file_description file description C173072 CTDC Property Terminology C171252 Electronic File Format The format of an electronic file. file_format file format Format C173072 CTDC Property Terminology C171191 Electronic File Name The literal identifier for an electronic file. file_name file name File Name C173072 CTDC Property Terminology C171192 Electronic File Size The size of an electronic file. file_size file size Size C173072 CTDC Property Terminology C171193 Electronic File Status The condition for an electronic file relative to the current data or file processing step. file_status file status C172861 || C172862 || C172863 || C172864 || C172865 || C172866 || C172867 || C172868 || C172869 || C172870 || C172871 || C172872 || C172876 uploading || uploaded || md5summing || md5summed || validating || error || invalid || suppressed || redacted || live || validated || submitted || released C173072 CTDC Property Terminology C171184 Estimated Copy Number 5 Percent Confidence Interval The lower limit of the 95 percent confidence interval for the estimated copy number. copy_number_ci_5 copy number ci 5 C173072 CTDC Property Terminology C171185 Estimated Copy Number 95 Percent Confidence Interval The upper limit of the 95 percent confidence interval for the estimated copy number. copy_number_ci_95 copy number ci 95 C173072 CTDC Property Terminology C16564 Ethnic Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. ethnicity Ethnicity C17459 || C17998 || C41222 HISPANIC_OR_LATINO || UNKNOWN || NOT_HISPANIC_OR_LATINO C173072 CTDC Property Terminology C43622 Experimental Method The use of controlled observations and measurements to test hypotheses. experimental_method experimental method C101294 || C101295 || C106049 || C106052 || C106054 || C124261 || C130177 || C156056 || C156057 || C172845 || C172858 || C172859 WGS (whole genome sequencing) || WXS (whole exome sequencing) || ChIP-Seq (chromatin ImmunoPrecipitation) || DNase-Hypersensitivity (sequencing of hypersensitive sites or segments of open chromatin that are more readily cleaved by DNaseI) || Bisulfite-Seq (sequencing following treatment of DNA with bisulfite to convert cytosine residues to uracil) || RNA-seq (transcriptome sequencing) || Targeted NGS (sequencing of selected regions of the genome either via targeted capture or amplification) || ATAC-seq (assay for Transposase-Accessible Chromatin (ATAC) strategy is used to study genome-wide chromatin accessibility) || miRNA-Seq (microRNA sequencing) || ChIA-PET (Direct sequencing of proximity-ligated chromatin immunoprecipitates). || ncRNA-Seq (sequencing of non-coding RNA) || ssRNA-seq (strand-specific RNA sequencing) C173072 CTDC Property Terminology C171255 Fusion Gene Downstream Gene Read Count The read count for the sequence of the gene that comprises the 3' portion of the coding sequence for a fusion gene. gene2_read_count gene2 read count C173072 CTDC Property Terminology C171253 Fusion Gene Downstream Gene Symbol The gene symbol that represents the gene that comprises the 3' portion of the coding sequence for a fusion gene. gene2 C173072 CTDC Property Terminology C171254 Fusion Gene Upstream Gene Read Count The read count for the sequence of the gene that comprises the 5' portion of the coding sequence for a fusion gene. gene1_read_count gene1 read count C173072 CTDC Property Terminology C171250 Fusion Gene Upstream Gene Symbol The gene symbol that represents the gene that comprises the 5' portion of the coding sequence for a fusion gene. gene1 C173072 CTDC Property Terminology C17357 Gender Characteristics of people that are socially constructed, including norms, behaviors, and roles based on sex. As a social construct, gender varies from society to society and can change over time. (Adapted from WHO.) gender Gender C16576 || C17998 || C20197 FEMALE || UNKNOWN || MALE C173072 CTDC Property Terminology C40342 Gene Physical Location The physical location of a gene expressed as chromosome and start and end base positions. position C173072 CTDC Property Terminology C97928 Gene Product Sequence Variation A variation in the sequence of a specific gene product. amino_acid_change amino acid change C173072 CTDC Property Terminology C43568 Gene Symbol A unique gene name approved by an organism specific nomenclature committee. gene C173072 CTDC Property Terminology C171273 Gene Symbol of Target in Immunohistochemistry Assay The gene symbol that represents the target analyte assayed during an immunohistochemical test. ihc_test_gene ihc test gene C17360 || C18256 || C18481 || C18482 RB || PTEN || MSH2 || MLH1 C173072 CTDC Property Terminology C97927 Gene Variant A variation in the nucleic acid sequence of a specific gene. alternative C173072 CTDC Property Terminology C164388 Genetic Reference Sequence A published genetic sequence that is used as a reference sequence against which other sequences are compared. reference C173072 CTDC Property Terminology C17248 Genetic Variation Genetic Variation consists of deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents. variant_classification variant classification C173072 CTDC Property Terminology C164813 Genetic Variation Identifier A unique identifier maintained by an authoritative database that represents a genetic variation. variant_id external variant id || external_variant_id || variant id C173072 CTDC Property Terminology C164815 Genome Assembly Version The source-specific version of the published genome assembly. reference_genome reference genome C173072 CTDC Property Terminology C172243 HGVS Genomic Variation Annotation The designation of an observed genomic variation based on the Human Genome Variation Society (HGVS) nomenclature guidelines. genomic_hgvs genomic hgvs C173072 CTDC Property Terminology C172244 HGVS Transcript Variation Annotation The designation of an observed transcript variation based on the Human Genome Variation Society (HGVS) nomenclature guidelines. transcript_hgvs transcript hgvs C173072 CTDC Property Terminology C175007 Immunohistochemical Test Result The result from the immunohistochemical test. ihc_test_result ihc test result C165233 || C17998 || C38758 || C48658 LOST || UNKNOWN || EXPRESSED || INDETERMINATE C173072 CTDC Property Terminology C171272 Immunohistochemistry Assay Unique Identifier A unique identifier assigned to raw or processed data from a performed immunohistochemistry assay. ihc_assay_id ihc assay id C173072 CTDC Property Terminology C63409 Lead Organization The principal administrative organization responsible for the research conducted. lead_organization lead organization Lead Organization C173072 CTDC Property Terminology C173951 MATCH Analysis Identifier An identifier assigned by the original data source site to the variant report and assignment report associated with a case in the MATCH trial. analysis_id analysis id C173072 CTDC Property Terminology C172251 MATCH Step at Time of Assignment The step in the MATCH workflow at which a subject has been assigned to a treatment arm. step_at_assignment step at assignment C173072 CTDC Property Terminology C171276 MD5 Checksum A 32-character hexadecimal number that is computed on a file. md5sum C173072 CTDC Property Terminology C117056 MedDRA Preferred Term Code A coded value specifying the preferred term from the Medical Dictionary for Regulatory Activities (MedDRA). meddra_code meddra code C173072 CTDC Property Terminology C172389 Metastatic Site Code A coded value specifying the anatomic site where metastasis was detected. met_site_id met site id C173072 CTDC Property Terminology C171335 NCBI Transcript Identifier An identifier assigned by National Center for Biotechnology Information (NCBI) to an RNA transcript. transcript_id transcript id C173072 CTDC Property Terminology C174125 Neoplastic Disease Extent Indicator An indication of whether a neoplastic disease has extended beyond its anatomic site of origin. extent_of_disease extent of disease C40557 || C4798 || C8524 Metastatic || Recurrent || Locally advanced C173072 CTDC Property Terminology C166229 Normal or Tumor Sample Pathology Indicator Specifies whether a sample is derived from normal or tumor-bearing tissue. specimen_type specimen type C12801 || C17998 || C18009 Normal || UNKNOWN || Tumor C173072 CTDC Property Terminology C172246 Nucleic Acid Aliquot Volume The volume of fluid in an aliquot containing nucleic acid extracted from a specimen. nucleic_acid_volume nucleic acid volume C173072 CTDC Property Terminology C171277 Nucleic Acid Concentration The measured concentration of nucleic acid in a sample. nucleic_acid_concentration nucleic acid concentration C173072 CTDC Property Terminology C171278 Nucleic Acid Sample Type Indicator Specifies the type of nucleic acid (DNA, RNA, Pooled, etc.) found in a sample. nucleic_acid_type nucleic acid type C173952 || C17998 || C449 || C812 Pooled DNA/cDNA || UNKNOWN || DNA || RNA C173072 CTDC Property Terminology C172250 Oncomine Variant Type The variant type assigned by the proprietary Oncomine assay. oncomine_variant_class oncomine variant class C19296 || C20195 || C45581 || C93102 || C94367 Deletion || Fusion || gene_fusion_variant || Amplification || Deleterious || Hotspot C173072 CTDC Property Terminology C47922 Pathname The specification of a node (file or directory) in a hierarchical file system, usually specified by listing the nodes top-down. file_location file location C173072 CTDC Property Terminology C164337 Patient Identifier An alphanumeric identifier assigned to a specific patient. source_id source id C173072 CTDC Property Terminology C166244 Patient Status An indicator that provides information on the current health status of a patient. patient_status patient status C173051 || C173182 || C173183 || C173184 || C173185 || C173186 || C173187 || C173188 || C173189 || C173190 || C173191 || C173193 || C173194 COMPASSIONATE_CARE || OFF_TRIAL || OFF_TRIAL_BIOPSY_EXPIRED || OFF_TRIAL_DECEASED || OFF_TRIAL_NOT_CONSENTED || OFF_TRIAL_NO_TA_AVAILABLE || OFF_TRIAL_REGISTRATION_ERROR || ON_TREATMENT_ARM || PENDING_APPROVAL || PENDING_CONFIRMATION || PTEN_ORDER_REQUESTED || REGISTRATION || REGISTRATION_OUTSIDE_ASSAY C173072 CTDC Property Terminology C172271 Patient Status Following Protocol Treatment Arm Assignment The status of a patient following assignment to a treatment arm. assignment_outcome assignment outcome C173051 || C173182 || C173184 || C173185 || C173186 || C173188 || C173189 || C173190 || C173569 || C173573 || C173574 || C40412 COMPASSIONATE_CARE || OFF_TRIAL || OFF_TRIAL_DECEASED || OFF_TRIAL_NOT_CONSENTED || OFF_TRIAL_NO_TA_AVAILABLE || ON_TREATMENT_ARM || PENDING_APPROVAL || PENDING_CONFIRMATION || FORMERLY_ON_ARM_OFF_TRIAL || FORMERLY_ON_ARM_DECEASED || FORMERLY_ON_ARM_PROGRESSED || NOT_ELIGIBLE C173072 CTDC Property Terminology C19924 Principal Investigator An investigator who is responsible for all aspects of the conduct of a study. principal_investigators principal investigators Principal Investigators C173072 CTDC Property Terminology C82522 Prior Medication Usage An indication or description that medications were taken previously. prior_drugs prior drugs C173072 CTDC Property Terminology C171182 Protocol Treatment Arm Assignment Rationale The rationale used for assigning a subject to a study arm. assignment_logic assignment logic C173072 CTDC Property Terminology C172237 Protocol Treatment Arm Assignment Report Unique Identifier A unique identifier assigned to a protocol arm assignment report. assignment_report_id assignment report id C173072 CTDC Property Terminology C172236 Protocol Treatment Arm Drug Name The name of the therapeutic agent or agents administered in a specific arm of a study. arm_drug arm drug Treatment Arm Drug C173072 CTDC Property Terminology C172275 Protocol Treatment Arm Molecular Target A description of the molecular target(s) of a protocol arm. arm_target arm target Treatment Arm Target C173072 CTDC Property Terminology C171181 Protocol Treatment Arm Unique Identifier A unique identifier assigned to a protocol treatment arm. arm_id arm id Treatment Arm C172992 || C172993 || C172994 || C172995 || C172996 || C172997 || C172998 || C172999 || C173000 || C173001 || C173002 || C173004 || C173011 || C173013 || C173014 || C173015 || C173016 || C173018 || C173022 || C173025 || C173026 || C173027 || C173028 || C173029 || C173030 || C173031 || C173033 || C173034 || C173035 || C173036 || C173037 || C173038 || C173039 || C173040 || C173041 || C173042 || C173043 || C173044 A || B || C1 || C2 || E || F || G || H || I || J || K1 || K2 || L || M || N || P || Q || R || S1 || S2 || T || U || V || W || X || Y || Z1A || Z1B || Z1C || Z1D || Z1E || Z1F || Z1G || Z1H || Z1I || Z1K || Z1L || Z1M C173072 CTDC Property Terminology C127797 PubMed Identifier for Citation Used in Study A globally unique identifier for a biomedical article, as assigned by PubMed. pubmed_id pubmed id PubMed ID C173072 CTDC Property Terminology C17049 Race A geographic ancestral origin category that is assigned to a population group based mainly on physical characteristics that are thought to be distinct and inherent. race Race C16352 || C17998 || C41219 || C41259 || C41260 || C41261 || C43234 BLACK_OR_AFRICAN_AMERICAN || UNKNOWN || NATIVE_HAWAIIAN_OR_OTHER_PACIFIC_ISLANDER || AMERICAN_INDIAN_OR_ALASKA_NATIVE || ASIAN || WHITE || NOT_REPORTED C173072 CTDC Property Terminology C172253 Sequence Variant Report Unique Identifier A unique identifier assigned to each variant report. variant_report_id variant report id C173072 CTDC Property Terminology C171337 Sequencing Assay Unique Identifier A unique identifier assigned to raw data from a performed nucleic acid sequencing assay. sequencing_assay_id sequencing assay id C173072 CTDC Property Terminology C172274 Sequencing Platform Name The name of the technology platform used to perform nucleic acid sequencing. platform C173072 CTDC Property Terminology C171338 Sequencing Quality Control Result Metadata collected during nucleic acid sequencing that can be used as a measure of the quality of the sequencing run. qc_result qc result C173072 CTDC Property Terminology C172273 Site of Metastasis at Trial Entry The anatomical location where metastasis was detected at the time the subject has entered the trial. metastatic_site_name metastatic site name C12233 || C12341 || C12347 || C12366 || C12379 || C12386 || C12391 || C12392 || C12412 || C12415 || C12427 || C12431 || C12439 || C12468 || C12469 || C12470 || C12666 || C12745 || C13005 || C13400 || C32979 || C41449 Submandibular || Conjunctiva || Orbit || Bone || Large intestine || Small intestine || Stomach || Liver || Testicle || Kidney || Parotid || Bone Marrow || CNS-Brain || Lung || Pleura || Skin || Adrenals || Lymph Nodes || Pericardium || Other || CNS-Leptom || Epidural C173072 CTDC Property Terminology C166393 Specimen Identifier A unique alphanumeric identifier assigned to a specimen. specimen_id specimen id C173072 CTDC Property Terminology C173950 Study Eligiblity Criterion Type Indicator An indication as to whether the criteria applied to a subject or case established that the subject should be included in or excluded from a study, trial or arm. criterion_type criterion type C74521 || C82931 Inclusion || Exclusion C173072 CTDC Property Terminology C173945 Therapeutic Eligibility Criterion Identifier A unique identifier for the data item representing the therapy defined eligibility criterion. drug_eligibility_criterion_id drug eligibility criterion id C173072 CTDC Property Terminology C171336 Torrent Variant Caller Version Text A string identifying a form or variant of the Ion Torrent variant caller used in a study. torrent_variant_caller_version torrent variant caller version C173072 CTDC Property Terminology C16154 Treatment Step A specific stage of progression through a sequential treatment protocol. current_step current step C173072 CTDC Property Terminology C49660 Trial Type The type of clinical trial performed e.g. efficacy, safety. clinical_trial_type clinical trial type Trial Type C173072 CTDC Property Terminology C171334 Tumor Suppressor Gene Indicator An indication as to whether a gene or variant is a tumor suppressor. tumor_suppressor tumor suppressor C173072 CTDC Property Terminology C70663 Unique Identifier A set of characters used as a code that is unique in the context or the system for which it is created. It serves as a means of identification and reference (often instead of a name) for an entity, person, thing, function, procedure, activity, variable, or body of data. uuid C173072 CTDC Property Terminology C154665 Variant Allele Frequency The relative rate of occurrence of a specific variant allele within a population. allele_frequency allele frequency C173072 CTDC Property Terminology C171188 Variant Exon The exon of a gene that contains the nucleotide variation that was identified by nucleic acid sequencing. exon C173072 CTDC Property Terminology C173940 dbGaP Accession Number A stable unique alphanumeric identifier assigned to a study and any objects by the database of Genotypes and Phenotypes (dbGaP). dbgap_accession_number dbgap accession number C172126 CTDC Terminology C173071 CTDC Node Terminology Terminology that supports the key trial entities (nodes) in the Clinical Trials Data Commons (CTDC) data model. C172126 CTDC Terminology C173072 CTDC Property Terminology Terminology that supports the data properties in the Clinical Trials Data Commons (CTDC) data model. C172126 CTDC Terminology C173073 CTDC Value Terminology Terminology that supports the values associated with data properties in the Clinical Trials Data Commons (CTDC) data model. C173073 CTDC Value Terminology C156056 ATAC-Seq A molecular genetic technique that isolates and sequences chromosomal regions that are rich in open chromatin. First, nuclei are harvested from a cellular sample. Then a hyperactive Tn5 transposase is added to the nuclei where it excises non-nucleosomal DNA strands and ligates co-administered high-throughput sequencing adapters (tagmentation). The tagged DNA fragments are isolated, amplified by PCR and sequenced. The number of reads for specific region of DNA correlate with increased chromatin accessibility and this method can identify regions of transcription factor and nucleosome binding. ATAC-seq (assay for Transposase-Accessible Chromatin (ATAC) strategy is used to study genome-wide chromatin accessibility) C173073 CTDC Value Terminology C12666 Adrenal Gland A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex). Adrenals C173073 CTDC Value Terminology C172878 Aligned DNA Reads File An electronic file where the data is comprised of the aligned DNA sequencing reads associated with a data set (i.e. files related to a sample, case or study, etc.). Aligned DNA reads file C173073 CTDC Value Terminology C172879 Aligned RNA Reads File An electronic file where the data is comprised of the aligned RNA sequencing reads associated with a data set (i.e. files related to a sample, case or study, etc.). Aligned RNA reads file C173073 CTDC Value Terminology C41259 American Indian or Alaska Native A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) AMERICAN_INDIAN_OR_ALASKA_NATIVE AMERICAN INDIAN OR ALASKA NATIVE C173073 CTDC Value Terminology C13400 Anatomic Sites, Other Atomic sites other than those already listed. Other C173073 CTDC Value Terminology C41260 Asian A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) ASIAN C173073 CTDC Value Terminology C106054 Bisulfite Sequencing A DNA sequencing technique that can differentiate cytosine from 5-methylcytosine in a DNA sample. First, a denatured DNA sample is treated with bisulfite which converts non-methylated cytosine to uracil. Next, the sample is amplified using a PCR method that does not discriminate between non-methylated and methylated sequences. The amplified DNA is subjected to nucleotide sequencing. The resulting sequence is compared to an identical control sample of DNA that was not treated with bisulfite. Unmethylated cytosines will be displayed as cytosines in the control sample and as thymines in the bisulfite-treated sample. Bisulfite-Seq (sequencing following treatment of DNA with bisulfite to convert cytosine residues to uracil) C173073 CTDC Value Terminology C16352 Black or African American A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) BLACK_OR_AFRICAN_AMERICAN BLACK OR AFRICAN AMERICAN C173073 CTDC Value Terminology C12366 Bone Connective tissue that forms the skeletal components of the body. Bone C173073 CTDC Value Terminology C12431 Bone Marrow The tissue occupying the spaces of bone. It consists of blood vessel sinuses and a network of hematopoietic cells which give rise to the red cells, white cells, and megakaryocytes. Bone Marrow C173073 CTDC Value Terminology C12439 Brain An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium. CNS-Brain C173073 CTDC Value Terminology C106049 ChIP-Seq A molecular genetic technique that combines chromatin immunoprecipitation (ChIP) with massively parallel DNA sequencing to map the binding sites of DNA-associated proteins in a sample of cells. First, crosslinked protein-DNA complexes are isolated using ChIP. Next, the crosslinks are broken, the proteins are removed and the purified DNA is modified with adaptor oligonucleotides to facilitate massively parallel DNA sequencing. Following sequencing, the DNA sequences that are obtained can be mapped to their genomic locations. ChIP-Seq (chromatin ImmunoPrecipitation) C173073 CTDC Value Terminology C172845 Chromatin Interaction Analysis with Paired-End Tag A molecular genetic technique that combines chromatin immunoprecipitation (ChIP) with paired end tagged (PET) DNA sequencing to identify the nucleotide sequences for the binding sites occupied by DNA-associated proteins in a sample. ChIA-PET (Direct sequencing of proximity-ligated chromatin immunoprecipitates). C173073 CTDC Value Terminology C13204 Chromosome 1 The designation for each member of the largest human autosomal chromosome pair. Chromosome 1 spans about 247 million nucleotide base pairs and represents about 8% of the total DNA in normal diploid cells. chr1 C173073 CTDC Value Terminology C13205 Chromosome 10 The designation for each member of the tenth largest human autosomal chromosome pair. Chromosome 10 spans about 135 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells. chr10 C173073 CTDC Value Terminology C13206 Chromosome 11 The designation for each member of the eleventh largest human autosomal chromosome pair. Chromosome 11 spans about 134.5 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells. chr11 C173073 CTDC Value Terminology C13207 Chromosome 12 The designation for each member of the twelfth largest human autosomal chromosome pair. Chromosome 12 spans about 143 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells. chr12 C173073 CTDC Value Terminology C13208 Chromosome 13 The designation for each member of the thirteenth largest human autosomal chromosome pair. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in normal diploid cells. chr13 C173073 CTDC Value Terminology C13209 Chromosome 14 The designation for each member of the fourteenth largest human autosomal chromosome pair. Chromosome 14 spans about 105 million base pairs and represents between 3 and 3.5% of the total DNA in normal diploid cells. chr14 C173073 CTDC Value Terminology C13210 Chromosome 15 The designation for each member of the fifteenth largest human autosomal chromosome pair. Chromosome 15 spans about 106 million base pairs and represents between 3 and 3.5% of the total DNA in normal diploid cells. chr15 C173073 CTDC Value Terminology C13211 Chromosome 16 The designation for each member of the sixteenth largest human autosomal chromosome pair. Chromosome 16 spans about 90 million base pairs and represents just under 3% of the total DNA in normal diploid cells. chr16 C173073 CTDC Value Terminology C13212 Chromosome 17 The designation for each member of the seventeenth largest human autosomal chromosome pair. Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3% of the total DNA in normal diploid cells. chr17 C173073 CTDC Value Terminology C13213 Chromosome 18 The designation for each member of the eighteenth largest human autosomal chromosome pair. Chromosome 18 spans about 76 million base pairs and represents about 2.5% of the total DNA in normal diploid cells. chr18 C173073 CTDC Value Terminology C13214 Chromosome 19 The designation for each member of the nineteenth largest human autosomal chromosome pair. Chromosome 19 spans more than 63 million base pairs and represents between 2 and 2.5% of the total DNA in normal diploid cells. chr19 C173073 CTDC Value Terminology C13215 Chromosome 2 The designation for each member of the second largest human autosomal chromosome pair. Chromosome 2 spans more than 237 million base pairs and represents almost 8% of the total DNA in normal diploid cells. chr2 C173073 CTDC Value Terminology C13216 Chromosome 20 The designation for each member of the third smallest human autosomal chromosome pair. Chromosome 20 spans around 63 million base pairs and represents between 2 and 2.5% of the total DNA in normal diploid cells. chr20 C173073 CTDC Value Terminology C13217 Chromosome 21 The designation for each member of the second smallest human autosomal chromosome pair. Chromosome 21 spans around 47 million nucleotides and represents about 1.5% of the total DNA in normal diploid cells. chr21 C173073 CTDC Value Terminology C13218 Chromosome 22 The designation for each member of the smallest human autosomal chromosome pair. Chromosome 22 spans about 49 million base pairs and represents between 1.5 and 2% of the total DNA in normal diploid cells. chr22 C173073 CTDC Value Terminology C13219 Chromosome 3 The designation for each member of the third largest human autosomal chromosome pair. Chromosome 3 spans almost 200 million base pairs and represents about 6.5% of the total DNA in normal diploid cells. chr3 C173073 CTDC Value Terminology C13220 Chromosome 4 The designation for each member of the fourth largest human autosomal chromosome pair. Chromosome 4 spans more than 186 million base pairs and represents between 6 and 6.5% of the total DNA in normal diploid cells. chr4 C173073 CTDC Value Terminology C13221 Chromosome 5 The designation for each member of the fifth largest human autosomal chromosome pair. Chromosome 5 spans about 181 million base pairs and represents almost 6% of the total DNA in normal diploid cells. chr5 C173073 CTDC Value Terminology C13222 Chromosome 6 The designation for each member of the sixth largest human autosomal chromosome pair. Chromosome 6 spans more than 170 million base pairs and represents between 5.5 and 6% of the total DNA in normal diploid cells. chr6 C173073 CTDC Value Terminology C13223 Chromosome 7 The designation for each member of the seventh largest human autosomal chromosome pair. Chromosome 7 spans more than 158 million base pairs and represents between 5 and 5.5% of the total DNA in normal diploid cells. chr7 C173073 CTDC Value Terminology C13224 Chromosome 8 The designation for each member of the eighth largest human autosomal chromosome pair. Chromosome 8 spans about 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in normal diploid cells. chr8 C173073 CTDC Value Terminology C13225 Chromosome 9 The designation for each member of the ninth largest human autosomal chromosome pair. Chromosome 9 spans about 145 million base pairs of nucleic acids and represents between 4 and 4.5% of the total DNA in normal diploid cells. chr9 C173073 CTDC Value Terminology C13285 Chromosome X The sex chromosome that is present in both sexes: singly in males and doubly in females. chrX C173073 CTDC Value Terminology C13286 Chromosome Y The y-shaped sex chromosome. In mammals, its presence or absence determines male or female sex. chrY C173073 CTDC Value Terminology C4870 Complete Remission The disappearance of all signs of cancer in response to treatment. Complete response C173073 CTDC Value Terminology C12341 Conjunctiva A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball). Conjunctiva C173073 CTDC Value Terminology C173051 Currently Receiving Compassionate Care A status indicating that a clinical trial or study subject is currently receiving compassionate care. COMPASSIONATE_CARE COMPASSIONATE CARE C173073 CTDC Value Terminology C449 DNA A long linear double-stranded polymer formed from nucleotides attached to a deoxyribose backbone and found in the nucleus of a cell; associated with the transmission of genetic information. DNA C173073 CTDC Value Terminology C106052 DNase-Seq A molecular genetic technique where genome-wide sequencing is performed on DNA regions that are super sensitive to cleavage by DNase I to identify putative DNA regulatory sequences. DNase-Hypersensitivity (sequencing of hypersensitive sites or segments of open chromatin that are more readily cleaved by DNaseI) C173073 CTDC Value Terminology C93102 Deleterious Mutation A genetic variation that is known to be associated with an increased risk of disease. Deleterious C173073 CTDC Value Terminology C19296 Deletion Mutation Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions. Deletion C173073 CTDC Value Terminology C41449 Epidural Spinal Canal Space Space between the dura mater and the walls of the vertebral canal. Epidural C173073 CTDC Value Terminology C82931 Exclusion The deliberate act of omission. Exclusion C173073 CTDC Value Terminology C165233 Expression Negative An indication that expression of a gene, RNA species or protein is not detected in a sample. LOST C173073 CTDC Value Terminology C16576 Female A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. FEMALE C173073 CTDC Value Terminology C172865 File Being Validated An indication that a file is in the process of being validated by a data repository. validating C173073 CTDC Value Terminology C172869 File Redacted An indication that a submitted file or the data within a file has been redacted before or during submission to a data repository. redacted C173073 CTDC Value Terminology C172872 File Submitted An indication that a file has been submitted to a data repository. submitted C173073 CTDC Value Terminology C172868 File Suppressed An indication that a submitted file has been suppressed from the view of the users for a data repository. suppressed C173073 CTDC Value Terminology C172862 File Uploaded An indication that a submitted file has successfully been uploaded to a data repository. uploaded C173073 CTDC Value Terminology C172861 File Uploading An indication that a submitted file is in the process of being uploaded to a data repository. uploading C173073 CTDC Value Terminology C172871 File Validated An indication that a file has successfully completed the validation process for submission into a data repository. validated C173073 CTDC Value Terminology C172866 File in Error An indication that an error occurred during the submission of a file to a data repository. error C173073 CTDC Value Terminology C45581 Gene Amplification Abnormality An increase in the copy number of a particular gene. This type of abnormality can be either inherited or somatic. Amplification C173073 CTDC Value Terminology C20195 Gene Fusion Any hybrid gene formed from two previously separate genes. Such fusions occur as a result of translocation, intersititial deletion or chromosomal inversion, and often result in gene products with functions different from the two fusion partners. Gene fusions are associated frequently with hematological cancers, sarcomas and prostate cancer. Fusion || gene_fusion_variant gene fusion variant C173073 CTDC Value Terminology C94367 Genetic Hotspot A genetic sequence at which mutations occur with an unusually high frequency. Hotspot C173073 CTDC Value Terminology C17459 Hispanic or Latino A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin" can be used in addition to "Hispanic or Latino". (OMB) HISPANIC_OR_LATINO HISPANIC OR LATINO C173073 CTDC Value Terminology C74521 Include Add as part of something else; put in as part of a set, group, or category. Inclusion C173073 CTDC Value Terminology C48658 Indeterminate Cannot distinguish between two or more possible values in the current context. INDETERMINATE C173073 CTDC Value Terminology C172880 Index File An electronic file that documents the names and types of all the files associated with an operating system or a data set (i.e. files related to a sample, case or study, etc.). Index file C173073 CTDC Value Terminology C40412 Ineligibility The state or quality of being disqualified by law, rule, or provision. NOT_ELIGIBLE NOT ELIGIBLE C173073 CTDC Value Terminology C172867 Invalid File An indication that a file has invalid data or is in an invalid format and cannot be submitted to a data repository. invalid C173073 CTDC Value Terminology C12415 Kidney One of the two bean-shaped organs located on each side of the spine in the retroperitoneum. The right kidney is located below the liver and the left kidney below the diaphragm. The kidneys filter and secrete metabolic products and minerals from the blood, thus maintaining homeostasis. On the superior pole of each kidney there is an adrenal gland. Each kidney and adrenal gland is surrounded by fat. Kidney C173073 CTDC Value Terminology C12379 Large Intestine A muscular tube that extends from the end of the small intestine to the anus. Large intestine C173073 CTDC Value Terminology C32979 Leptomeninges The two innermost layers of tissue that cover the brain and spinal cord, the arachnoid mater and the pia mater. CNS-Leptom C173073 CTDC Value Terminology C172870 Live File An indication that a file is active within a data repository. live C173073 CTDC Value Terminology C12392 Liver A triangular-shaped organ located under the diaphragm in the right hypochondrium. It is the largest internal organ of the body, weighting up to 2 kg. Metabolism and bile secretion are its main functions. It is composed of cells which have the ability to regenerate. Liver C173073 CTDC Value Terminology C8524 Locally Advanced Malignant Neoplasm A malignant neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes. Locally advanced C173073 CTDC Value Terminology C12468 Lung One of a pair of viscera occupying the pulmonary cavities of the thorax, the organs of respiration in which aeration of the blood takes place. As a rule, the right lung is slightly larger than the left and is divided into three lobes (an upper, a middle, and a lower or basal), while the left has two lobes (an upper and a lower or basal). Each lung is irregularly conical in shape, presenting a blunt upper extremity (the apex), a concave base following the curve of the diaphragm, an outer convex surface (costal surface), an inner or mediastinal surface (mediastinal surface), a thin and sharp anterior border, and a thick and rounded posterior border. Lung C173073 CTDC Value Terminology C12745 Lymph Node A bean-shaped organ surrounded by a connective tissue capsule. It is part of the lymphatic system and is found throughout the body. It is composed predominantly of lymphocytes and its main function is immune protection. Lymph Nodes C173073 CTDC Value Terminology C172992 MATCH Arm EAY131-A The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with afatinib in patients with solid tumors, excluding small cell and non-small cell lung carcinomas, or lymphomas that have activating EGFR gene mutations and progression following standard treatment. A C173073 CTDC Value Terminology C172993 MATCH Arm EAY131-B The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with afatinib in patients with tumors that have activating ERBB2 (HER2) gene mutations, excluding non-small cell lung carcinoma. B C173073 CTDC Value Terminology C172994 MATCH Arm EAY131-C1 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with crizotinib in patients with tumors that have MET gene amplification. C1 C173073 CTDC Value Terminology C172995 MATCH Arm EAY131-C2 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with crizotinib in patients with tumors that have MET exon 14 deletion mutations. C2 C173073 CTDC Value Terminology C172996 MATCH Arm EAY131-E The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with osimertinib in patients with tumors that have EGFR T790M substitution mutations or other rare EGFR activating gene mutations, excluding non-small cell lung carcinomas. E C173073 CTDC Value Terminology C172997 MATCH Arm EAY131-F The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with crizotinib in patients with tumors that have ALK translocations, excluding adenocarcinomas of lung and anaplastic large cell lymphomas. F C173073 CTDC Value Terminology C172998 MATCH Arm EAY131-G The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with crizotinib in patients with tumors that have ROS1 translocations, excluding non-small lung cell carcinomas. G C173073 CTDC Value Terminology C172999 MATCH Arm EAY131-H The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with dabrafenib and trametinib in patients with tumors that have BRAF V600E or V600K substitution mutations, excluding colorectal cancer, melanoma, non-small cell lung cancer, or thyroid cancer. H C173073 CTDC Value Terminology C173000 MATCH Arm EAY131-I The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with taselisib in patients with tumors that have PIK3CA gene mutations but do not have KRAS mutations or PTEN inactivating mutations, excluding breast cancers and squamous cell lung cancers that have PIK3CA gene mutations or PIK3CA loss of function mutations. I C173073 CTDC Value Terminology C173001 MATCH Arm EAY131-J The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with trastuzumab and pertuzumab in patients with cancers that have ERBB2 (HER2) amplifications, excluding breast cancers, colorectal cancers, gastric cancers and gastroesophageal junction (GEJ) cancers. J C173073 CTDC Value Terminology C173002 MATCH Arm EAY131-K1 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with erdafitinib in patients with cancers that have FGFR family amplifications, excluding bladder and urothelial tract transitional cell carcinoma. K1 C173073 CTDC Value Terminology C173004 MATCH Arm EAY131-K2 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with erdafitinib in patients with cancers that have FGFR family mutations or fusions, excluding bladder and urothelial tract transitional cell carcinoma. K2 C173073 CTDC Value Terminology C173011 MATCH Arm EAY131-L The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with sapanisertib in patients with cancers that have mTOR mutations. L C173073 CTDC Value Terminology C173013 MATCH Arm EAY131-M The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with sapanisertib in patients with cancers that have TSC1 or TSC2 mutations. M C173073 CTDC Value Terminology C173014 MATCH Arm EAY131-N The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with the PI3K-beta inhibitor GSK2636771 in patients with cancers that have PTEN mutations or deletions and are PTEN positive by immunohistochemical analysis. N C173073 CTDC Value Terminology C173015 MATCH Arm EAY131-P The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with the PI3K-beta inhibitor GSK2636771 in patients with cancers that are PTEN negative by immunohistochemical analysis. P C173073 CTDC Value Terminology C173016 MATCH Arm EAY131-Q The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with ado-trastuzumab emtansine in patients with cancers that have ERBB2 (HER2) gene amplifications, excluding breast cancers, colorectal cancers, gastric cancers and gastroesophageal junction (GEJ) cancers. Q C173073 CTDC Value Terminology C173018 MATCH Arm EAY131-R The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with trametinib in patients with tumors that have BRAF fusions or BRAF gene mutations, excluding those with BRAF V600E or V600K substitution mutations. R C173073 CTDC Value Terminology C173022 MATCH Arm EAY131-S1 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with trametinib in patients with tumors that have NF1 gene mutations, excluding breast cancer. S1 C173073 CTDC Value Terminology C173025 MATCH Arm EAY131-S2 The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with trametinib in patients with tumors that have mutations in either the GNAQ or GNA11 gene excluding uveal melanoma. S2 C173073 CTDC Value Terminology C173026 MATCH Arm EAY131-T The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with vismodegib in patients with cancers that have mutations in either the SMO or PTCH1 gene, excluding basal cell skin cancers. T C173073 CTDC Value Terminology C173027 MATCH Arm EAY131-U The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with defactinib in patients with cancers that have NF2 loss of expression mutations. U C173073 CTDC Value Terminology C173028 MATCH Arm EAY131-V The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with sunitinib in patients with tumors that have KIT gene mutations, excluding gastrointestinal stromal tumors (GIST), renal cell cancers and pancreatic neuroendocrine tumors. V C173073 CTDC Value Terminology C173029 MATCH Arm EAY131-W The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with AZD4547 in patients with tumors that have deregulation of pathways involving FGFR family proteins, excluding squamous cell lung cancer, gastric (stomach) cancer and gastroesophageal junction (GEJ) cancers. W C173073 CTDC Value Terminology C173030 MATCH Arm EAY131-X The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with dasatinib in patients with tumors that have DDR2 gene mutations. X C173073 CTDC Value Terminology C173031 MATCH Arm EAY131-Y The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with capivasertib in patients with cancers that have AKT gene mutations. Y C173073 CTDC Value Terminology C173033 MATCH Arm EAY131-Z1A The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with binimetinib in patients with cancers that have NRAS gene mutations, excluding melanomas. Z1A C173073 CTDC Value Terminology C173034 MATCH Arm EAY131-Z1B The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with palbociclib in patients with tumors that have CCND1, CCND2 or CCND3 gene amplification and are RB1 positive by immunohistochemical analysis, excluding breast cancers, mantle cell lymphomas and myelomas. Z1B C173073 CTDC Value Terminology C173035 MATCH Arm EAY131-Z1C The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with palbociclib in patients with tumors that have either CDK4 or CDK6 gene amplification and are RB1 positive by immunohistochemical analysis, excluding breast cancers, mantle cell lymphomas and myelomas. Z1C C173073 CTDC Value Terminology C173036 MATCH Arm EAY131-Z1D The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with nivolumab in patients with cancers that have mismatch repair deficiency, excluding cancers for which nivolumab is the standard of care. Z1D C173073 CTDC Value Terminology C173037 MATCH Arm EAY131-Z1E The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with larotrectinib in patients with cancers that have fusion mutations involving NTRK family genes. Z1E C173073 CTDC Value Terminology C173038 MATCH Arm EAY131-Z1F The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with copanlisib in patients with tumors that have PIK3CA gene mutations, excluding indolent non-Hodgkin lymphomas, diffuse large B cell lymphomas and HER2-positive breast cancers. Z1F C173073 CTDC Value Terminology C173039 MATCH Arm EAY131-Z1G The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with copanlisib in patients with tumors, excluding indolent non-Hodgkin lymphomas, diffuse large B cell lymphomas and HER2-positive breast cancers, that have PTEN gene mutations and are PTEN negative by immunohistochemical analysis. Z1G C173073 CTDC Value Terminology C173040 MATCH Arm EAY131-Z1H The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with copanlisib in patients with tumors that have deleterious PTEN gene mutations and are PTEN positive by immunohistochemical analysis, excluding indolent non-Hodgkin lymphomas, diffuse large B cell lymphomas and HER2-positive breast cancers. Z1H C173073 CTDC Value Terminology C173041 MATCH Arm EAY131-Z1I The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with adavosertib in patients with tumors that have BRCA1 or BRCA2 gene mutations, excluding breast cancers. Z1I C173073 CTDC Value Terminology C173042 MATCH Arm EAY131-Z1K The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with ipatasertib in patients with tumors that have AKT family gene mutations. Z1K C173073 CTDC Value Terminology C173043 MATCH Arm EAY131-Z1L The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with ulixertinib in patients with tumors that have BRAF fusions or BRAF gene mutations, excluding those with BRAF V600E or V600K substitution mutations and central nervous system primary malignancy. Z1L C173073 CTDC Value Terminology C173044 MATCH Arm EAY131-Z1M The unique identifier assigned to the arm of the Molecular Analysis for Therapy Choice (MATCH) phase II clinical trial that is investigating treatment with nivolumab and relatlimab in patients with progressive neoplastic disease following immune checkpoint inhibitor therapies targeting either PD1 (PDCD1) or PD-L1 (CD247) that are LAG3 positive and have mismatch repair deficiency. Z1M C173073 CTDC Value Terminology C18482 MLH1 Gene This gene plays a role in DNA mismatch repair. MLH1 C173073 CTDC Value Terminology C18481 MSH2 Gene This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1. MSH2 C173073 CTDC Value Terminology C20197 Male A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. MALE C173073 CTDC Value Terminology C172864 Md5 Checksum Completed An indication that a submitted file has successfully been assigned an md5 checksum. md5summed C173073 CTDC Value Terminology C172863 Md5 Checksumming An indication that a submitted file is in the process of being assigned an md5 checksum. md5summing C173073 CTDC Value Terminology C40557 Metastatic Lesion A tumor arising at a location distant to the primary lesion. Metastatic C173073 CTDC Value Terminology C156057 MicroRNA Sequencing A next-generation or massively parallel high-throughput DNA sequencing-based procedure that can identify and quantify the microRNA sequences present in a biological sample. miRNA-Seq (microRNA sequencing) C173073 CTDC Value Terminology C41219 Native Hawaiian or Other Pacific Islander A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) NATIVE_HAWAIIAN_OR_OTHER_PACIFIC_ISLANDER NATIVE HAWAIIAN OR OTHER PACIFIC ISLANDER C173073 CTDC Value Terminology C130177 Next Generation Targeted Sequencing A technique that determines the nucleotide sequence of a pre-specified region of DNA or RNA by using primers that are specific for that region. Targeted NGS (sequencing of selected regions of the genome either via targeted capture or amplification) C173073 CTDC Value Terminology C172858 Non-Coding RNA Sequencing A molecular genetic technique that can determine the RNA sequences for all or part of the population of small and large non-protein coding RNA transcripts in a sample. ncRNA-Seq (sequencing of non-coding RNA) C173073 CTDC Value Terminology C41222 Not Hispanic or Latino A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. NOT_HISPANIC_OR_LATINO NOT HISPANIC OR LATINO C173073 CTDC Value Terminology C43234 Not Reported Not provided or available. NOT_REPORTED NOT REPORTED C173073 CTDC Value Terminology C12347 Orbit The bony cavity of the skull which contains the eye, anterior portion of the optic nerve, ocular muscles and ocular adnexa. Seven bones contribute to the structure of the orbit: the frontal, maxillary, zygomatic, sphenoid, lacrimal, ethmoid, and palatine bones. Orbit C173073 CTDC Value Terminology C18256 PTEN Gene This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. PTEN C173073 CTDC Value Terminology C12427 Parotid Gland The largest of the three paired salivary glands, located in front of the ear. Parotid C173073 CTDC Value Terminology C18058 Partial Remission A finding indicating that there is a decrease in the size and the extent of tissue involvement by a malignant tumor in a patient. Partial response C173073 CTDC Value Terminology C13005 Pericardium A conical membranous sac filled with serous fluid in which the heart as well as the roots of the aorta and other large blood vessels are contained. Pericardium C173073 CTDC Value Terminology C12469 Pleura The tissue that lines the wall of the thoracic cavity and the surface of the lungs. Pleura C173073 CTDC Value Terminology C173952 Pooled DNA and cDNA A biospecimen comprised of a pooled mixture of DNA and cDNA collected from a single subject or a group of subjects. Pooled DNA/cDNA C173073 CTDC Value Terminology C38758 Positive Finding A finding of abnormality following an examination or observation confirming something, such as the presence of a disease, condition, or microorganism. EXPRESSED C173073 CTDC Value Terminology C35571 Progressive Disease A clinical, pathologic, and/or molecular finding indicating that the course of a disease is worsening in terms of extent or severity. Progressive disease C173073 CTDC Value Terminology C17360 RB1 Gene This gene is involved in the regulation of cell differentiation, growth and proliferation. RB C173073 CTDC Value Terminology C172877 Raw Nucleotide Reads File An electronic file comprised of the raw nucleotide sequencing read data associated with a data set (i.e. files related to a sample, case or study, etc.). Raw reads file C173073 CTDC Value Terminology C4798 Recurrent Neoplasm The reemergence of a neoplasm after a period of remission. Recurrent C173073 CTDC Value Terminology C172876 Released File An indication that a file has been released to the users of a database or data repository. released C173073 CTDC Value Terminology C812 Ribonucleic Acid Single-stranded long chain of nucleotides containing ribose. It is the end product of DNA transcription by the enzyme RNA polymerase. It is essential in protein synthesis. RNA C173073 CTDC Value Terminology C12470 Skin An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages. Skin C173073 CTDC Value Terminology C12386 Small Intestine The section of the intestines between the pylorus and cecum. The small intestine is approximately 20 feet long and consists of the duodenum, the jejunum, and the ileum. Its main function is to absorb nutrients from food as the food is transported to the large intestine. Small intestine C173073 CTDC Value Terminology C18213 Stable Disease Cancer that is neither decreasing nor increasing in extent or severity. Stable disease C173073 CTDC Value Terminology C12391 Stomach An organ located under the diaphragm, between the liver and the spleen as well as between the esophagus and the small intestine. The stomach is the primary organ of food digestion. Stomach C173073 CTDC Value Terminology C172859 Strand-Specific RNA Sequencing Bidirectional sequencing to determine the nucleotide sequence of the complementary strand and/or the transcriptional strand of a transcribed RNA. ssRNA-seq (strand-specific RNA sequencing) C173073 CTDC Value Terminology C173188 Subject Assigned to Protocol Treatment Arm A status indicating that a clinical study or trial subject has been assigned to a protocol treatment arm. ON_TREATMENT_ARM ON TREATMENT ARM C173073 CTDC Value Terminology C173182 Subject Off Trial A status indicating that a clinical trial subject is currently off the trial. OFF_TRIAL OFF TRIAL C173073 CTDC Value Terminology C173569 Subject Off Trial Following Assignment to Protocol Treatment Arm A status indicating that a clinical study or trial subject that was assigned to a protocol treatment arm is currently off the trial. FORMERLY_ON_ARM_OFF_TRIAL FORMERLY ON ARM OFF TRIAL C173073 CTDC Value Terminology C173573 Subject Off Trial Following Assignment to Protocol Treatment Arm due to Death A status indicating that a clinical trial subject that was assigned to a protocol treatment arm is currently off the trial because they are deceased. FORMERLY_ON_ARM_DECEASED FORMERLY ON ARM DECEASED C173073 CTDC Value Terminology C173574 Subject Off Trial Following Assignment to Protocol Treatment Arm due to Disease Progression A status indicating that a clinical trial subject that was assigned to a protocol treatment arm is currently off the trial because they have experienced disease progression. FORMERLY_ON_ARM_PROGRESSED FORMERLY ON ARM PROGRESSED C173073 CTDC Value Terminology C173184 Subject Off Trial due to Death A status indicating that a clinical trial subject is currently off the trial because they are deceased. OFF_TRIAL_DECEASED OFF TRIAL DECEASED C173073 CTDC Value Terminology C173183 Subject Off Trial due to Expired Biopsy A status indicating that a clinical trial subject is currently off the trial because of an expired biopsy. OFF_TRIAL_BIOPSY_EXPIRED OFF TRIAL BIOPSY EXPIRED C173073 CTDC Value Terminology C173185 Subject Off Trial due to Lack of Consent A status indicating that a clinical trial subject is currently off the trial because they have not granted or received consent. OFF_TRIAL_NOT_CONSENTED OFF TRIAL NOT CONSENTED C173073 CTDC Value Terminology C173186 Subject Off Trial due to No Available Treatment Arm A status indicating that a clinical trial subject is currently off the trial because they do not fill the criteria for inclusion into an existing treatment arm. OFF_TRIAL_NO_TA_AVAILABLE OFF TRIAL NO TA AVAILABLE C173073 CTDC Value Terminology C173187 Subject Off Trial due to Registration Error A status indicating that a clinical trial subject is currently off the trial because of an error that occurred during the registration process. OFF_TRIAL_REGISTRATION_ERROR OFF TRIAL REGISTRATION ERROR C173073 CTDC Value Terminology C173189 Subject Registration Pending Approval A status indicating that the inclusion of a clinical study or trial subject is currently pending approval. PENDING_APPROVAL PENDING APPROVAL C173073 CTDC Value Terminology C173190 Subject Registration Pending Confirmation A status indicating that the inclusion of a clinical study or trial subject is currently pending confirmation of eligibility. PENDING_CONFIRMATION PENDING CONFIRMATION C173073 CTDC Value Terminology C173191 Subject Registration Pending PTEN Molecular Analysis A status indicating that the completion of the registration process for clinical study or trial subject is currently pending due to a request for molecular analysis of PTEN. PTEN_ORDER_REQUESTED PTEN ORDER REQUESTED C173073 CTDC Value Terminology C173193 Subject Registration in Process A status indicating that a clinical study or trial subject is currently in the process of being registered for the study or trial. REGISTRATION C173073 CTDC Value Terminology C173194 Subject Registration in Process Following Outside Assay A status indicating that a clinical study or trial subject is currently being registered for the study or trial based on assay results that were collected from a site that is not a participating institution. REGISTRATION_OUTSIDE_ASSAY REGISTRATION OUTSIDE ASSAY C173073 CTDC Value Terminology C12233 Submandibular Gland One of a pair of major salivary glands located below the floor of the mouth. Submandibular C173073 CTDC Value Terminology C12412 Testis Either of the paired male reproductive glands that produce the male germ cells and the male hormones. Testicle C173073 CTDC Value Terminology C12801 Tissue An anatomical structure consisting of similarly specialized cells and intercellular matrix, aggregated according to genetically determined spatial relationships, performing a specific function. Normal C173073 CTDC Value Terminology C18009 Tumor Tissue A tumor sample, or entire tumor that is removed for microscopic examination. Tumor C173073 CTDC Value Terminology C62222 Unevaluable Unable to be evaluated. Not evaluable C173073 CTDC Value Terminology C17998 Unknown Not known, observed, recorded; or reported as unknown by the data contributor. UNKNOWN C173073 CTDC Value Terminology C172881 Variants File An electronic file comprised of the genetic variants found in a defined data set (i.e. a sample, case or study, etc.). Variants file C173073 CTDC Value Terminology C41261 White A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) WHITE C173073 CTDC Value Terminology C101295 Whole Exome Sequencing A procedure that can determine the DNA sequence for all of the exons in an individual. WXS (whole exome sequencing) C173073 CTDC Value Terminology C101294 Whole Genome Sequencing A procedure that can determine the DNA sequence for nearly the entire genome of an individual. WGS (whole genome sequencing) C173073 CTDC Value Terminology C124261 Whole Transcriptome Sequencing A procedure that can determine the nucleotide sequence for all of the RNA transcripts in an individual. RNA-seq (transcriptome sequencing)