{
"package" : "hl7.terminology.r4@6.3.0",
"definition" : "COSMIC – Simple variants",
"system" : "http://terminology.hl7.org/CodeSystem/v2-0396",
"property" : [ {
"_uri" : "http://terminology.hl7.org/CodeSystem/utg-concept-properties#v2-concComment",
"code" : "v2-concComment",
"valueString" : "This table includes only simple somatic (cancer) mutations, one per unique mutation ID. The codes is the COSMIC mutation ID, and the name uses Ensembl RefSeqs and the single letter code for p.HGVS. It carries fields analogous to most of the key fields in ClinVar, but its reference sequences are Ensembl transcript reference sequences with prefixes of ENST; it specifies amino acid changes with the older, HGVS, single letter codes and it carries examples of primary cancers and primary tissues, fields that are not in ClinVar. COSMIC's source table includes multiple records per mutation - one per submission. The COSMIC-Simple Variants table carries only includes one record per unique mutation- more than 3 million of them. These contents are copyright COSMIC (http://cancer.sanger.ac.uk/cosmic/license) LHC has produced a look up table for these records, and for users to look up particular mutation IDs with permission from COSMIC. However, interested parties must contact COSMIC for permission to download these records."
}, {
"_uri" : "http://terminology.hl7.org/CodeSystem/utg-concept-properties#status",
"code" : "status",
"valueCode" : "A"
} ],
"codesystem" : "e39b54bc-250f-5dcb-bad5-a06bddcbf336",
"concept_id" : "db0bae40-b0bd-5c92-b411-64d168d2dd86",
"ancestors" : {
"COSMIC-Smpl" : 0
},
"id" : "d71af9ca-03f4-47da-a418-7ef36453368d",
"code" : "COSMIC-Smpl",
"display" : "COSMIC – Simple variants",
"version" : "4.1.0"
}