Resource

Id:	hg38/scores/ClinVar_20240730
Type:	allele_score
Version:	0
Summary:
Description:
Labels:	reference_genome: hg38/genomes/GRCh38-hg38

Scores

ID	Type	Default annotation	Description	Range
AF_ESP	float	None	allele frequencies from GO-ESP	[0.000, 1.000]
AF_EXAC	float	None	allele frequencies from ExAC	[0.000, 1.000]
AF_TGP	float	None	allele frequencies from TGP	[0.000, 1.000]
ALLELEID	int	None	ClinVar Allele ID	[15041.000, 3414284.000]
CLNDN	str	None	ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB	not_provided, not_specified, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Primary_ciliary_dyskinesia, not_specified\|not_provided, not_provided\|Inborn_genetic_diseases, Fanconi_anemia, not_provided\|not_specified, Early_infantile_epileptic_encephalopathy_with_suppression_bursts, Inborn_genetic_diseases\|not_provided, Spastic_paraplegia, Nemaline_myopathy_2, Dilated_cardiomyopathy_1G\|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J, Neurofibromatosis\|_type_1, Familial_cancer_of_breast, Familial_thoracic_aortic_aneurysm_and_aortic_dissection, Long_QT_syndrome, Familial_adenomatous_polyposis_1, Other Values
CLNDNINCL	str	None	For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB	not_specified, Vancomycin_response, Leber_congenital_amaurosis, not_provided, Anemia\|_nonspherocytic_hemolytic\|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response\|Escitalopram_response\|Sertraline_response\|Voriconazole_response, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Hypercholesterolemia\|_familial\|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Breast-ovarian_cancer\|_familial\|_susceptibility_to\|_1, Epilepsy\|_idiopathic_generalized\|_susceptibility_to, Severe_combined_immunodeficiency\|_autosomal_recessive\|_T_cell-negative\|_B_cell-negative\|_NK_cell-positive, Tuberous_sclerosis_syndrome, Congenital_multicore_myopathy_with_external_ophthalmoplegia, Other Values
CLNDISDB	str	None	Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"	MedGen:C3661900, MedGen:CN169374, MeSH:D030342\|MedGen:C0950123, MedGen:CN517202, ., MONDO:MONDO:0015356\|MeSH:D009386\|MedGen:C0027672\|Orphanet:140162, MedGen:CN230736, Human_Phenotype_Ontology:HP:0012265\|MONDO:MONDO:0016575\|MedGen:C0008780\|OMIM:PS244400\|Orphanet:244, MedGen:C3661900\|., MedGen:CN169374\|MedGen:C3661900, MedGen:C3661900\|MeSH:D030342\|MedGen:C0950123, .\|MedGen:C3661900, MONDO:MONDO:0019391\|MeSH:D005199\|MedGen:C0015625\|OMIM:PS227650\|Orphanet:84, MedGen:C3661900\|MedGen:CN169374, MONDO:MONDO:0100062\|MedGen:C0393706\|OMIM:PS308350\|Orphanet:1934, MeSH:D030342\|MedGen:C0950123\|MedGen:C3661900, Human_Phenotype_Ontology:HP:0001258\|Human_Phenotype_Ontology:HP:0007062\|Human_Phenotype_Ontology:HP:0007124\|Human_Phenotype_Ontology:HP:0007216\|MedGen:C0037772, MONDO:MONDO:0009725\|MedGen:C1850569\|OMIM:256030, MONDO:MONDO:0011400\|MedGen:C1858763\|OMIM:604145\|Orphanet:154\|MONDO:MONDO:0012127\|MedGen:C1837342\|OMIM:608807\|Orphanet:140922, MONDO:MONDO:0018975\|MedGen:C0027831\|OMIM:162200\|Orphanet:636, Other Values
CLNDISDBINCL	str	None	For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN	., MedGen:CN169374, MedGen:CN297638, MONDO:MONDO:0018998\|MeSH:D057130\|MedGen:C0339527\|OMIM:PS204000\|Orphanet:65, MedGen:C3661900, MONDO:MONDO:0010480\|MedGen:C2720289\|OMIM:300908\|Orphanet:466026, MONDO:MONDO:0009061\|MedGen:C0010674\|OMIM:219700\|Orphanet:586, MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, Human_Phenotype_Ontology:HP:0002269\|Human_Phenotype_Ontology:HP:0007317\|MedGen:C1837249, MONDO:MONDO:0012624\|MedGen:C4747517\|OMIM:611126\|Orphanet:99901, MONDO:MONDO:0009549\|MeSH:D000080362\|MedGen:C1855465\|OMIM:248200\|Orphanet:364055\|Orphanet:827, MONDO:MONDO:0009452\|MedGen:C1855772\|OMIM:242840\|Orphanet:1493, .\|., MONDO:MONDO:0008728\|MedGen:C2936858\|OMIM:201910\|Orphanet:90794, .\|MedGen:CN221263\|MedGen:CN221264\|MedGen:CN221265\|MedGen:CN077957, MONDO:MONDO:0007750\|MedGen:C0745103\|OMIM:143890\|Orphanet:391665, MONDO:MONDO:0009785\|MedGen:C0432219\|OMIM:258480\|Orphanet:2746, MONDO:MONDO:0013282\|MedGen:C0221757\|OMIM:613490\|Orphanet:60, MONDO:MONDO:0011450\|MedGen:C2676676\|OMIM:604370\|Orphanet:145, MONDO:MONDO:0011086\|MedGen:C1832322\|OMIM:601457\|Orphanet:331206, Other Values
CLNREVSTAT	str	None	ClinVar review status of germline classification for the Variation ID	criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters\|_no_conflicts, criteria_provided\|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline
CLNSIG	str	CLNSIG	Aggregate germline classification for this single variant; multiple values are separated by a vertical bar	Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, Uncertain_significance/Uncertain_risk_allele, Affects, no_classifications_from_unflagged_records, Likely_risk_allele, Pathogenic\|other, Pathogenic\|drug_response, Other Values
CLNSIGCONF	str	None	Conflicting germline classification for this single variant; multiple values are separated by a vertical bar	Uncertain_significance(1)\|Likely_benign(1), Uncertain_significance(2)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(2), Likely_pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(1)\|Benign(1), Uncertain_significance(3)\|Likely_benign(1), Uncertain_significance(1)\|Likely_benign(3), Pathogenic(1)\|Uncertain_significance(1), Uncertain_significance(4)\|Likely_benign(1), Uncertain_significance(2)\|Likely_benign(2), Uncertain_significance(1)\|Benign(1)\|Likely_benign(1), Uncertain_significance(2)\|Benign(1), Likely_pathogenic(1)\|Uncertain_significance(2), Uncertain_significance(5)\|Likely_benign(1), Uncertain_significance(1)\|Benign(1)\|Likely_benign(2), Uncertain_significance(3)\|Likely_benign(2), Uncertain_significance(1)\|Likely_benign(4), Uncertain_significance(2)\|Likely_benign(3), Likely_pathogenic(2)\|Uncertain_significance(1), Pathogenic(1)\|Likely_pathogenic(1)\|Uncertain_significance(1), Other Values
CLNSIGINCL	str	None	Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar	1723892:drug_response, 14353:Uncertain_significance, 5345:Benign, 440728:risk_factor, 869112:association, 2575166:Pathogenic, 1184302:Uncertain_significance, 17709:Benign, 36924:Pathogenic, 29691:risk_factor, 12182:Pathogenic, 13542:risk_factor, 17736:Affects\|2573152:Benign\|2573153:Benign\|2573154:Benign, 633844:drug_response\|633885:drug_response\|633887:drug_response\|633888:drug_response\|633904:drug_response\|633905:drug_response\|633910:drug_response\|633913:drug_response\|633916:drug_response\|633925:drug_response\|633927:drug_response\|633930:drug_response\|633941:drug_response\|633952:drug_response\|633958:drug_response\|633965:drug_response\|634060:drug_response\|634114:drug_response\|634132:drug_response\|634136:drug_response\|634137:drug_response\|634138:drug_response\|634205:drug_response\|634212:drug_response\|634213:drug_response\|634232:drug_response\|634272:drug_response\|634298:drug_response\|634355:drug_response\|634365:drug_response\|634375:drug_response\|634413:drug_response\|634414:drug_response\|634427:drug_response\|638789:drug_response, 438264:Pathogenic, 1722723:Likely_pathogenic, 202166:not_provided, 12304:Pathogenic, 14182:Pathogenic, 14180:Pathogenic, Other Values
CLNVC	str	None	Variant type	single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation
CLNVCSO	str	None	Sequence Ontology id for variant type	SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059
CLNVI	str	None	the variant's clinical sources reported as tag-value pairs of database and variant identifier	Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000562560\|Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:111700.0002, OMIM:610665.0001, OMIM:131230.0001, OMIM:173510.0008, OMIM:613815.0016, OMIM:605634.0002, OMIM:607340.0001, OMIM:604824.0001, OMIM:612386.0014, OMIM:601146.0012, OMIM:147795.0004, OMIM:613890.0003, OMIM:191315.0006, OMIM:608515.0002, OMIM:600031.0002, OMIM:600713.0001, OMIM:102610.0015, Other Values
GENEINFO	str	None	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)	BRCA2:675, TTN:7273\|TTN-AS1:100506866, APC:324, NF1:4763, BRCA1:672, TTN:7273, TSC2:7249, ATM:472, MSH6:2956, POLE:5426, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, ATM:472\|C11orf65:160140, DICER1:23405, ADGRV1:84059, Other Values
MC	str	None	comma separated list of molecular consequence in the form of Sequence Ontology ID\|molecular_consequence	SO:0001583\|missense_variant, SO:0001627\|intron_variant, SO:0001819\|synonymous_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant, SO:0001583\|missense_variant\|SO:0001627\|intron_variant, SO:0001589\|frameshift_variant, SO:0001619\|non-coding_transcript_variant\|SO:0001819\|synonymous_variant, SO:0001587\|nonsense, SO:0001624\|3_prime_UTR_variant, SO:0001627\|intron_variant\|SO:0001819\|synonymous_variant, SO:0001583\|missense_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001575\|splice_donor_variant, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001627\|intron_variant, SO:0001574\|splice_acceptor_variant, SO:0001583\|missense_variant\|SO:0001624\|3_prime_UTR_variant, SO:0001822\|inframe_deletion, SO:0001583\|missense_variant\|SO:0001619\|non-coding_transcript_variant\|SO:0001623\|5_prime_UTR_variant, SO:0001623\|5_prime_UTR_variant\|SO:0001819\|synonymous_variant, SO:0001623\|5_prime_UTR_variant, SO:0001589\|frameshift_variant\|SO:0001619\|non-coding_transcript_variant, Other Values
ONCDN	str	None	ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB	Gastrointestinal_stromal_tumor, Pancreatic_ductal_adenocarcinoma, Acute_myeloid_leukemia, Malignant_neoplastic_disease
ONCREVSTAT	str	None	ClinVar review status of oncogenicity classification for the Variation ID	no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_single_submitter
ONCDISDB	str	None	Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN	Human_Phenotype_Ontology:HP:0100723\|MONDO:MONDO:0011719\|MeSH:D046152\|MedGen:C0238198\|OMIM:606764\|Orphanet:44890, MONDO:MONDO:0005184\|MedGen:C1335302, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, MONDO:MONDO:0004992\|MedGen:C0006826
ONC	str	None	Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar	no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign
ORIGIN	str	None	Allele origin	1, 0, 32, 2, 5, 4, 33, 17, 16, 9, 3, 8, 64, 65, 21, 25, 13, 49, 35, 37, Other Values
RS	str	None	Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (\|)	193922936, 11309117, 56986587, 535965616, 746054139, 3032358, 35896485, 200900896, 55712755, 59431308, 367885911, 3078066, 41550117, 3831942, 55889738, 371983878, 10524346, 35115360, 766545285, 746853821, Other Values
SCIDN	str	None	ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB	Chronic_myelogenous_leukemia\|_BCR-ABL1_positive, Acute_myeloid_leukemia, Diffuse_midline_glioma\|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Colorectal_cancer\|Melanoma, Essential_thrombocythemia\|Acute_myeloid_leukemia
SCIDISDB	str	None	Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN	Human_Phenotype_Ontology:HP:0005506\|Human_Phenotype_Ontology:HP:0005544\|MONDO:MONDO:0011996\|MeSH:D015464\|MedGen:C0279543\|OMIM:608232\|Orphanet:521, Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519, MONDO:MONDO:0957196\|MedGen:C4289688, Human_Phenotype_Ontology:HP:0030358\|MONDO:MONDO:0005233\|MeSH:D002289\|MedGen:C0007131, MONDO:MONDO:0005575\|MedGen:C0346629\|OMIM:114500\|Human_Phenotype_Ontology:HP:0002861\|Human_Phenotype_Ontology:HP:0002887\|Human_Phenotype_Ontology:HP:0006777\|Human_Phenotype_Ontology:HP:0007474\|MONDO:MONDO:0005105\|MeSH:D008545\|MedGen:C0025202, MONDO:MONDO:0005029\|MeSH:D013920\|MedGen:C0040028\|Orphanet:3318\|Human_Phenotype_Ontology:HP:0001914\|Human_Phenotype_Ontology:HP:0004808\|Human_Phenotype_Ontology:HP:0004843\|Human_Phenotype_Ontology:HP:0005516\|Human_Phenotype_Ontology:HP:0006724\|Human_Phenotype_Ontology:HP:0006728\|MONDO:MONDO:0018874\|MeSH:D015470\|MedGen:C0023467\|OMIM:601626\|Orphanet:519
SCI	str	None	Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar	no_classification_for_the_single_variant, Tier_IV_-_Benign/Likely_benign, Tier_I_-_Strong, Tier_III_-_Unknown, Tier_II_-_Potential
SCIREVSTAT	str	None	ClinVar review status of somatic clinical impact for the Variation ID	no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided\|_single_submitter, criteria_provided\|_multiple_submitters

Type

Default annotation

Description

Histogram

Range

AF_ESP

float

None

allele frequencies from GO-ESP

[0.000, 1.000]

AF_EXAC

float

None

allele frequencies from ExAC

[0.000, 1.000]

AF_TGP

float

None

allele frequencies from TGP

[0.000, 1.000]

ALLELEID

int

None

ClinVar Allele ID

[15041.000, 3414284.000]

CLNDN

str

None

ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_provided, not_specified, Inborn_genetic_diseases, Hereditary_cancer-predisposing_syndrome, Cardiovascular_phenotype, Primary_ciliary_dyskinesia, not_specified|not_provided, not_provided|Inborn_genetic_diseases, Fanconi_anemia, not_provided|not_specified, Early_infantile_epileptic_encephalopathy_with_suppression_bursts, Inborn_genetic_diseases|not_provided, Spastic_paraplegia, Nemaline_myopathy_2, Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J, Neurofibromatosis|_type_1, Familial_cancer_of_breast, Familial_thoracic_aortic_aneurysm_and_aortic_dissection, Long_QT_syndrome, Familial_adenomatous_polyposis_1, Other Values

CLNDNINCL

str

None

For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB

not_specified, Vancomycin_response, Leber_congenital_amaurosis, not_provided, Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency, Cystic_fibrosis, Citalopram_response|Escitalopram_response|Sertraline_response|Voriconazole_response, Abnormality_of_neuronal_migration, Acyl-CoA_dehydrogenase_9_deficiency, Severe_early-childhood-onset_retinal_dystrophy, Vici_syndrome, Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency, Hypercholesterolemia|_familial|_1, Opsismodysplasia, Alpha-1-antitrypsin_deficiency, Breast-ovarian_cancer|_familial|_susceptibility_to|_1, Epilepsy|_idiopathic_generalized|_susceptibility_to, Severe_combined_immunodeficiency|_autosomal_recessive|_T_cell-negative|_B_cell-negative|_NK_cell-positive, Tuberous_sclerosis_syndrome, Congenital_multicore_myopathy_with_external_ophthalmoplegia, Other Values

CLNDISDB

str

None

Tag-value pairs of disease database name and identifier submitted for germline classifications, e.g. OMIM:NNNNNN"

CLNDISDBINCL

str

None

For included Variant: Tag-value pairs of disease database name and identifier for germline classifications, e.g. OMIM:NNNNNN

CLNREVSTAT

str

None

ClinVar review status of germline classification for the Variation ID

criteria_provided|_single_submitter, criteria_provided|_multiple_submitters|_no_conflicts, criteria_provided|_conflicting_classifications, no_assertion_criteria_provided, reviewed_by_expert_panel, no_classification_provided, no_classification_for_the_single_variant, no_classifications_from_unflagged_records, practice_guideline

CLNSIG

str

CLNSIG

Aggregate germline classification for this single variant; multiple values are separated by a vertical bar

Uncertain_significance, Likely_benign, Benign, Pathogenic, Conflicting_classifications_of_pathogenicity, Likely_pathogenic, Benign/Likely_benign, Pathogenic/Likely_pathogenic, not_provided, drug_response, other, no_classification_for_the_single_variant, risk_factor, association, Uncertain_significance/Uncertain_risk_allele, Affects, no_classifications_from_unflagged_records, Likely_risk_allele, Pathogenic|other, Pathogenic|drug_response, Other Values

CLNSIGCONF

str

None

Conflicting germline classification for this single variant; multiple values are separated by a vertical bar

CLNSIGINCL

str

None

Germline classification for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:classification; multiple values are separated by a vertical bar

CLNVC

str

None

Variant type

single_nucleotide_variant, Deletion, Duplication, Microsatellite, Indel, Insertion, Inversion, Variation

CLNVCSO

str

None

Sequence Ontology id for variant type

SO:0001483, SO:0000159, SO:1000035, SO:0000289, SO:1000032, SO:0000667, SO:1000036, SO:0001059

CLNVI

str

None

the variant's clinical sources reported as tag-value pairs of database and variant identifier

Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:154270.0001, Genetic_Testing_Registry_(GTR):GTR000562560|Genetic_Testing_Registry_(GTR):GTR000613302, OMIM:111700.0002, OMIM:610665.0001, OMIM:131230.0001, OMIM:173510.0008, OMIM:613815.0016, OMIM:605634.0002, OMIM:607340.0001, OMIM:604824.0001, OMIM:612386.0014, OMIM:601146.0012, OMIM:147795.0004, OMIM:613890.0003, OMIM:191315.0006, OMIM:608515.0002, OMIM:600031.0002, OMIM:600713.0001, OMIM:102610.0015, Other Values

GENEINFO

str

None

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

BRCA2:675, TTN:7273|TTN-AS1:100506866, APC:324, NF1:4763, BRCA1:672, TTN:7273, TSC2:7249, ATM:472, MSH6:2956, POLE:5426, RYR1:6261, NEB:4703, DMD:1756, RYR2:6262, FBN1:2200, MSH2:4436, USH2A:7399, ATM:472|C11orf65:160140, DICER1:23405, ADGRV1:84059, Other Values

str

None

comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence

ONCDN

str

None

ClinVar's preferred disease name for the concept specified by disease identifiers in ONCDISDB

Gastrointestinal_stromal_tumor, Pancreatic_ductal_adenocarcinoma, Acute_myeloid_leukemia, Malignant_neoplastic_disease

ONCREVSTAT

str

None

ClinVar review status of oncogenicity classification for the Variation ID

no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_single_submitter

ONCDISDB

str

None

Tag-value pairs of disease database name and identifier submitted for oncogenicity classifications, e.g. MedGen:NNNNNN

ONC

str

None

Aggregate oncogenicity classification for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Likely_oncogenic, Uncertain_significance, Oncogenic, Likely_benign

ORIGIN

str

None

Allele origin

1, 0, 32, 2, 5, 4, 33, 17, 16, 9, 3, 8, 64, 65, 21, 25, 13, 49, 35, 37, Other Values

str

None

Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)

193922936, 11309117, 56986587, 535965616, 746054139, 3032358, 35896485, 200900896, 55712755, 59431308, 367885911, 3078066, 41550117, 3831942, 55889738, 371983878, 10524346, 35115360, 766545285, 746853821, Other Values

SCIDN

str

None

ClinVar's preferred disease name for the concept specified by disease identifiers in SCIDISDB

Chronic_myelogenous_leukemia|_BCR-ABL1_positive, Acute_myeloid_leukemia, Diffuse_midline_glioma|_H3_K27M-mutant, Non-small_cell_lung_carcinoma, Colorectal_cancer|Melanoma, Essential_thrombocythemia|Acute_myeloid_leukemia

SCIDISDB

str

None

Tag-value pairs of disease database name and identifier submitted for somatic clinial impact classifications, e.g. MedGen:NNNNNN

SCI

str

None

Aggregate somatic clinical impact for this single variant; multiple values are separated by a vertical bar

no_classification_for_the_single_variant, Tier_IV_-_Benign/Likely_benign, Tier_I_-_Strong, Tier_III_-_Unknown, Tier_II_-_Potential

SCIREVSTAT

str

None

ClinVar review status of somatic clinical impact for the Variation ID

no_classification_for_the_single_variant, no_assertion_criteria_provided, criteria_provided|_single_submitter, criteria_provided|_multiple_submitters

Files

Filename	Size	md5
clinvar_20240730.vcf	1.11 GB	7cf71a319a358a12af1d846c9a2f7a0c
clinvar_20240730.vcf.dvc	106.0 B	edda6efc4ce3674a47a6a64d148fc8d7
clinvar_20240730_chr.header.vcf.gz	1.35 KB	dd54c9ab1fb6afeea484b5e25c9c8ce0
clinvar_20240730_chr.header.vcf.gz.tbi	72.0 B	4cb176febbc8c26d717a6c6e67b9c905
clinvar_20240730_chr.vcf.gz	96.99 MB	f08b390ca6f3e120e867c51fead6f310
clinvar_20240730_chr.vcf.gz.dvc	112.0 B	5a22525321aca7e83801f7ab111c402e
clinvar_20240730_chr.vcf.gz.tbi	523.22 KB	1bf7469c46bcec7fbb478e30dc4e3358
clinvar_20240730_chr.vcf.gz.tbi.dvc	113.0 B	cd3f4285f0540f43b580350c77918616
clinvar_20240730_chr_with_origin_name.vcf	34.0 B	4d757233ee10cec0a3c7a0cd3b41b41d
customplot1.py	8.09 KB	87a55cc9f852228b00b8ea19f96d9e59
dataPrep.sh	722.0 B	787c887302b2fd4305896e50971df9a6
genomic_resource.yaml	9.65 KB	3641f913262ad2de6c7348fd295abd81
statistics/

Filename

Size

md5

clinvar_20240730.vcf

1.11 GB

7cf71a319a358a12af1d846c9a2f7a0c

clinvar_20240730.vcf.dvc

106.0 B

edda6efc4ce3674a47a6a64d148fc8d7

clinvar_20240730_chr.header.vcf.gz

1.35 KB

dd54c9ab1fb6afeea484b5e25c9c8ce0