publisci 0.1.2
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- checksums.yaml +7 -0
- data/.document +5 -0
- data/.rspec +1 -0
- data/.travis.yml +13 -0
- data/Gemfile +36 -0
- data/LICENSE.txt +20 -0
- data/README.md +51 -0
- data/README.rdoc +48 -0
- data/Rakefile +68 -0
- data/bin/bio-publisci +106 -0
- data/bin/bio-publisci-server +50 -0
- data/examples/bio-band_integration.rb +9 -0
- data/examples/no_magic.prov +58 -0
- data/examples/no_magic.rb +58 -0
- data/examples/orm.prov +48 -0
- data/examples/primer-full.prov +120 -0
- data/examples/primer.prov +66 -0
- data/examples/prov_dsl.prov +85 -0
- data/examples/safe_gen.rb +7 -0
- data/examples/visualization/primer.prov +66 -0
- data/examples/visualization/prov_viz.rb +140 -0
- data/examples/visualization/viz.rb +35 -0
- data/features/create_generator.feature +21 -0
- data/features/integration.feature +12 -0
- data/features/integration_steps.rb +10 -0
- data/features/metadata.feature +37 -0
- data/features/metadata_steps.rb +40 -0
- data/features/orm.feature +60 -0
- data/features/orm_steps.rb +74 -0
- data/features/prov_dsl.feature +14 -0
- data/features/prov_dsl_steps.rb +11 -0
- data/features/reader.feature +25 -0
- data/features/reader_steps.rb +61 -0
- data/features/step_definitions/bio-publisci_steps.rb +0 -0
- data/features/store.feature +27 -0
- data/features/store_steps.rb +42 -0
- data/features/support/env.rb +13 -0
- data/features/writer.feature +14 -0
- data/features/writer_steps.rb +24 -0
- data/lib/bio-publisci.rb +64 -0
- data/lib/bio-publisci/analyzer.rb +57 -0
- data/lib/bio-publisci/datacube_model.rb +111 -0
- data/lib/bio-publisci/dataset/ORM/data_cube_orm.rb +240 -0
- data/lib/bio-publisci/dataset/ORM/observation.rb +20 -0
- data/lib/bio-publisci/dataset/configuration.rb +31 -0
- data/lib/bio-publisci/dataset/data_cube.rb +418 -0
- data/lib/bio-publisci/dataset/dataset.rb +11 -0
- data/lib/bio-publisci/dataset/dataset_for.rb +186 -0
- data/lib/bio-publisci/dataset/interactive.rb +72 -0
- data/lib/bio-publisci/dsl/config.rb +34 -0
- data/lib/bio-publisci/dsl/dataset_dsl.rb +93 -0
- data/lib/bio-publisci/dsl/dsl.rb +72 -0
- data/lib/bio-publisci/dsl/metadata_dsl.rb +85 -0
- data/lib/bio-publisci/dsl/prov_dsl.rb +143 -0
- data/lib/bio-publisci/metadata/generator.rb +323 -0
- data/lib/bio-publisci/metadata/metadata.rb +5 -0
- data/lib/bio-publisci/metadata/metadata_model.rb +25 -0
- data/lib/bio-publisci/metadata/prov/activity.rb +88 -0
- data/lib/bio-publisci/metadata/prov/agent.rb +100 -0
- data/lib/bio-publisci/metadata/prov/association.rb +107 -0
- data/lib/bio-publisci/metadata/prov/config.rb +34 -0
- data/lib/bio-publisci/metadata/prov/derivation.rb +60 -0
- data/lib/bio-publisci/metadata/prov/element.rb +120 -0
- data/lib/bio-publisci/metadata/prov/entity.rb +64 -0
- data/lib/bio-publisci/metadata/prov/model/prov_models.rb +109 -0
- data/lib/bio-publisci/metadata/prov/plan.rb +32 -0
- data/lib/bio-publisci/metadata/prov/prov.rb +78 -0
- data/lib/bio-publisci/metadata/prov/role.rb +40 -0
- data/lib/bio-publisci/metadata/prov/usage.rb +64 -0
- data/lib/bio-publisci/metadata/publisher.rb +25 -0
- data/lib/bio-publisci/mixins/custom_predicate.rb +38 -0
- data/lib/bio-publisci/mixins/dereferencable.rb +34 -0
- data/lib/bio-publisci/mixins/registry.rb +27 -0
- data/lib/bio-publisci/mixins/vocabulary.rb +8 -0
- data/lib/bio-publisci/output.rb +27 -0
- data/lib/bio-publisci/parser.rb +266 -0
- data/lib/bio-publisci/post_processor.rb +95 -0
- data/lib/bio-publisci/query/query_helper.rb +123 -0
- data/lib/bio-publisci/r_client.rb +54 -0
- data/lib/bio-publisci/readers/arff.rb +49 -0
- data/lib/bio-publisci/readers/base.rb +57 -0
- data/lib/bio-publisci/readers/csv.rb +88 -0
- data/lib/bio-publisci/readers/dataframe.rb +67 -0
- data/lib/bio-publisci/readers/maf.rb +199 -0
- data/lib/bio-publisci/readers/r_cross.rb +112 -0
- data/lib/bio-publisci/readers/r_matrix.rb +176 -0
- data/lib/bio-publisci/store.rb +56 -0
- data/lib/bio-publisci/writers/arff.rb +91 -0
- data/lib/bio-publisci/writers/base.rb +93 -0
- data/lib/bio-publisci/writers/csv.rb +31 -0
- data/lib/bio-publisci/writers/dataframe.rb +81 -0
- data/lib/bio-publisci/writers/json.rb +18 -0
- data/lib/r2rdf.rb +226 -0
- data/lib/template_bak.rb +12 -0
- data/lib/template_bak/publisci.rb +3 -0
- data/lib/vocabs/cc.rb +18 -0
- data/lib/vocabs/cert.rb +13 -0
- data/lib/vocabs/dc.rb +63 -0
- data/lib/vocabs/dc11.rb +23 -0
- data/lib/vocabs/doap.rb +45 -0
- data/lib/vocabs/exif.rb +168 -0
- data/lib/vocabs/foaf.rb +69 -0
- data/lib/vocabs/geo.rb +13 -0
- data/lib/vocabs/http.rb +26 -0
- data/lib/vocabs/ma.rb +78 -0
- data/lib/vocabs/owl.rb +59 -0
- data/lib/vocabs/rdfs.rb +17 -0
- data/lib/vocabs/rsa.rb +12 -0
- data/lib/vocabs/rss.rb +14 -0
- data/lib/vocabs/sioc.rb +93 -0
- data/lib/vocabs/skos.rb +36 -0
- data/lib/vocabs/wot.rb +21 -0
- data/lib/vocabs/xhtml.rb +9 -0
- data/lib/vocabs/xsd.rb +58 -0
- data/resources/maf_example.maf +10 -0
- data/resources/maf_rdf.ttl +1173 -0
- data/resources/primer.ttl +38 -0
- data/resources/queries/code_resources.rq +10 -0
- data/resources/queries/codes.rq +18 -0
- data/resources/queries/dataset.rq +7 -0
- data/resources/queries/dimension_ranges.rq +8 -0
- data/resources/queries/dimensions.rq +12 -0
- data/resources/queries/gene.rq +16 -0
- data/resources/queries/hugo_to_ensembl.rq +7 -0
- data/resources/queries/maf_column.rq +26 -0
- data/resources/queries/measures.rq +12 -0
- data/resources/queries/observation_labels.rq +8 -0
- data/resources/queries/observations.rq +13 -0
- data/resources/queries/patient.rq +11 -0
- data/resources/queries/patient_list.rq +11 -0
- data/resources/queries/patients_with_mutation.rq +18 -0
- data/resources/queries/properties.rq +8 -0
- data/resources/queries/test.rq +3 -0
- data/resources/weather.numeric.arff +28 -0
- data/scripts/get_gene_lengths.rb +50 -0
- data/scripts/islet_mlratio.rb +6 -0
- data/scripts/scan_islet.rb +6 -0
- data/scripts/update_reference.rb +25 -0
- data/server/helpers.rb +215 -0
- data/server/public/src-min-noconflict/LICENSE +24 -0
- data/server/public/src-min-noconflict/ace.js +11 -0
- data/server/public/src-min-noconflict/ext-chromevox.js +1 -0
- data/server/public/src-min-noconflict/ext-elastic_tabstops_lite.js +1 -0
- data/server/public/src-min-noconflict/ext-emmet.js +1 -0
- data/server/public/src-min-noconflict/ext-keybinding_menu.js +1 -0
- data/server/public/src-min-noconflict/ext-language_tools.js +1 -0
- data/server/public/src-min-noconflict/ext-modelist.js +1 -0
- data/server/public/src-min-noconflict/ext-old_ie.js +1 -0
- data/server/public/src-min-noconflict/ext-searchbox.js +1 -0
- data/server/public/src-min-noconflict/ext-settings_menu.js +1 -0
- data/server/public/src-min-noconflict/ext-spellcheck.js +1 -0
- data/server/public/src-min-noconflict/ext-split.js +1 -0
- data/server/public/src-min-noconflict/ext-static_highlight.js +1 -0
- data/server/public/src-min-noconflict/ext-statusbar.js +1 -0
- data/server/public/src-min-noconflict/ext-textarea.js +1 -0
- data/server/public/src-min-noconflict/ext-themelist.js +1 -0
- data/server/public/src-min-noconflict/ext-whitespace.js +1 -0
- data/server/public/src-min-noconflict/keybinding-emacs.js +1 -0
- data/server/public/src-min-noconflict/keybinding-vim.js +1 -0
- data/server/public/src-min-noconflict/mode-ruby.js +1 -0
- data/server/public/src-min-noconflict/snippets/ruby.js +1 -0
- data/server/public/src-min-noconflict/theme-twilight.js +1 -0
- data/server/public/src-min-noconflict/worker-coffee.js +1 -0
- data/server/public/src-min-noconflict/worker-css.js +1 -0
- data/server/public/src-min-noconflict/worker-javascript.js +1 -0
- data/server/public/src-min-noconflict/worker-json.js +1 -0
- data/server/public/src-min-noconflict/worker-lua.js +1 -0
- data/server/public/src-min-noconflict/worker-php.js +1 -0
- data/server/public/src-min-noconflict/worker-xquery.js +1 -0
- data/server/routes.rb +123 -0
- data/server/views/dsl.haml +65 -0
- data/server/views/dump.haml +3 -0
- data/server/views/import.haml +35 -0
- data/server/views/new_repository.haml +25 -0
- data/server/views/query.haml +28 -0
- data/server/views/repository.haml +25 -0
- data/spec/ORM/data_cube_orm_spec.rb +33 -0
- data/spec/ORM/prov_model_spec.rb +72 -0
- data/spec/analyzer_spec.rb +36 -0
- data/spec/bnode_spec.rb +66 -0
- data/spec/csv/bacon.csv +4 -0
- data/spec/csv/moar_bacon.csv +11 -0
- data/spec/data_cube_spec.rb +169 -0
- data/spec/dataset_for_spec.rb +77 -0
- data/spec/dsl_spec.rb +134 -0
- data/spec/generators/csv_spec.rb +44 -0
- data/spec/generators/dataframe_spec.rb +44 -0
- data/spec/generators/maf_spec.rb +40 -0
- data/spec/generators/r_cross_spec.rb +51 -0
- data/spec/generators/r_matrix_spec.rb +44 -0
- data/spec/length_lookup_spec.rb +0 -0
- data/spec/maf_query_spec.rb +343 -0
- data/spec/metadata/metadata_dsl_spec.rb +68 -0
- data/spec/prov/activity_spec.rb +74 -0
- data/spec/prov/agent_spec.rb +54 -0
- data/spec/prov/association_spec.rb +55 -0
- data/spec/prov/config_spec.rb +28 -0
- data/spec/prov/derivation_spec.rb +30 -0
- data/spec/prov/entity_spec.rb +52 -0
- data/spec/prov/role_spec.rb +94 -0
- data/spec/prov/usage_spec.rb +98 -0
- data/spec/queries/integrity/1.rq +21 -0
- data/spec/queries/integrity/11.rq +29 -0
- data/spec/queries/integrity/12.rq +37 -0
- data/spec/queries/integrity/14.rq +25 -0
- data/spec/queries/integrity/19_1.rq +21 -0
- data/spec/queries/integrity/19_2.rq +15 -0
- data/spec/queries/integrity/2.rq +22 -0
- data/spec/queries/integrity/3.rq +19 -0
- data/spec/queries/integrity/4.rq +13 -0
- data/spec/queries/integrity/5.rq +14 -0
- data/spec/r_builder_spec.rb +33 -0
- data/spec/resource/.RData +0 -0
- data/spec/resource/example.Rhistory +3 -0
- data/spec/spec_helper.rb +17 -0
- data/spec/turtle/bacon +147 -0
- data/spec/turtle/reference +2064 -0
- data/spec/turtle/weather +275 -0
- data/spec/writer_spec.rb +75 -0
- metadata +589 -0
data/lib/vocabs/rdfs.rb
ADDED
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module RDF
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##
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# RDF Schema (RDFS) vocabulary.
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#
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# @see http://www.w3.org/TR/rdf-schema/
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class RDFS < Vocabulary("http://www.w3.org/2000/01/rdf-schema#")
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property :comment
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property :domain
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property :isDefinedBy
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property :label
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property :member
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property :range
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property :seeAlso
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property :subClassOf
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property :subPropertyOf
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end
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end
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data/lib/vocabs/rsa.rb
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module RDF
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##
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# W3 RSA Keys (RSA) vocabulary.
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#
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# @see http://www.w3.org/ns/auth/rsa#
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# @since 0.2.0
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class RSA < Vocabulary("http://www.w3.org/ns/auth/rsa#")
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property :modulus
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property :private_exponent
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property :public_exponent
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end
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end
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data/lib/vocabs/rss.rb
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module RDF
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##
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# RDF Site Summary (RSS) vocabulary.
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#
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# @see http://web.resource.org/rss/1.0/
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class RSS < Vocabulary("http://purl.org/rss/1.0/")
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property :description
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property :items
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property :link
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property :name
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property :title
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property :url
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end
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end
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data/lib/vocabs/sioc.rb
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module RDF
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##
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# Semantically-Interlinked Online Communities (SIOC) vocabulary.
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#
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# @see http://rdfs.org/sioc/spec/
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class SIOC < Vocabulary("http://rdfs.org/sioc/ns#")
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property :about
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property :account_of
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property :administrator_of
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property :attachment
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property :avatar
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property :container_of
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property :content
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property :content_encoded # @deprecated
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property :created_at # @deprecated
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property :creator_of
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property :description # @deprecated
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property :earlier_version
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property :email
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property :email_sha1
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property :feed
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property :first_name # @deprecated
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property :follows
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property :function_of
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property :group_of # @deprecated
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property :has_administrator
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property :has_container
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property :has_creator
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property :has_discussion
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property :has_function
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property :has_group # @deprecated
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property :has_host
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property :has_member
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property :has_moderator
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property :has_modifier
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property :has_owner
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property :has_parent
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property :has_part # @deprecated
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property :has_reply
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property :has_scope
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property :has_space
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property :has_subscriber
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property :has_usergroup
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property :host_of
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property :id
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property :ip_address
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property :last_activity_date
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property :last_item_date
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property :last_name # @deprecated
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property :last_reply_date
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property :later_version
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property :latest_version
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property :link
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property :links_to
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property :member_of
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property :moderator_of
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property :modified_at # @deprecated
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property :modifier_of
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property :name
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property :next_by_date
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property :next_version
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property :note
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property :num_authors
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property :num_items
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property :num_replies
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property :num_threads
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property :num_views
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property :owner_of
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property :parent_of
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property :part_of # @deprecated
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property :previous_by_date
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property :previous_version
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property :reference # @deprecated
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property :related_to
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property :reply_of
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property :scope_of
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property :sibling
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property :space_of
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property :subject # @deprecated
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property :subscriber_of
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property :title # @deprecated
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property :topic
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property :usergroup_of
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##
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# Semantically-Interlinked Online Communities (SIOC) types vocabulary.
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#
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# @see http://rdfs.org/sioc/spec/#sec-modules
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class Types < RDF::Vocabulary("http://rdfs.org/sioc/types#")
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# TODO
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end
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end
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end
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data/lib/vocabs/skos.rb
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module RDF
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##
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# Simple Knowledge Organization System (SKOS) vocabulary.
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#
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# @see http://www.w3.org/TR/skos-reference/skos.html
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class SKOS < Vocabulary("http://www.w3.org/2004/02/skos/core#")
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property :altLabel
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property :broadMatch
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property :broader
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property :broaderTransitive
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property :changeNote
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property :closeMatch
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property :definition
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property :editorialNote
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property :exactMatch
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property :example
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property :hasTopConcept
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property :hiddenLabel
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property :historyNote
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property :inScheme
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property :mappingRelation
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property :member
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property :memberList
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property :narrowMatch
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property :narrower
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property :narrowerTransitive
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property :notation
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property :note
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property :prefLabel
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property :related
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property :relatedMatch
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property :scopeNote
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property :semanticRelation
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property :topConceptOf
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end
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end
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data/lib/vocabs/wot.rb
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module RDF
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##
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+
# Web of Trust (WOT) vocabulary.
|
4
|
+
#
|
5
|
+
# @see http://xmlns.com/wot/0.1/
|
6
|
+
class WOT < Vocabulary("http://xmlns.com/wot/0.1/")
|
7
|
+
property :assurance
|
8
|
+
property :encryptedTo
|
9
|
+
property :encrypter
|
10
|
+
property :fingerprint
|
11
|
+
property :hasKey
|
12
|
+
property :hex_id
|
13
|
+
property :identity
|
14
|
+
property :length
|
15
|
+
property :pubkeyAddress
|
16
|
+
property :sigdate
|
17
|
+
property :signed
|
18
|
+
property :signer
|
19
|
+
property :sigtime
|
20
|
+
end
|
21
|
+
end
|
data/lib/vocabs/xhtml.rb
ADDED
data/lib/vocabs/xsd.rb
ADDED
@@ -0,0 +1,58 @@
|
|
1
|
+
module RDF
|
2
|
+
##
|
3
|
+
# XML Schema (XSD) vocabulary.
|
4
|
+
#
|
5
|
+
# @see http://www.w3.org/XML/Schema
|
6
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-datatypes
|
7
|
+
class XSD < Vocabulary("http://www.w3.org/2001/XMLSchema#")
|
8
|
+
# XML Schema built-in primitive types
|
9
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-primitive-datatypes
|
10
|
+
property :NOTATION
|
11
|
+
property :QName
|
12
|
+
property :anyURI
|
13
|
+
property :base64Binary
|
14
|
+
property :boolean
|
15
|
+
property :date
|
16
|
+
property :dateTime
|
17
|
+
property :decimal
|
18
|
+
property :double
|
19
|
+
property :duration
|
20
|
+
property :float
|
21
|
+
property :gDay
|
22
|
+
property :gMonth
|
23
|
+
property :gMonthDay
|
24
|
+
property :gYear
|
25
|
+
property :gYearMonth
|
26
|
+
property :hexBinary
|
27
|
+
property :string
|
28
|
+
property :time
|
29
|
+
|
30
|
+
# XML Schema built-in derived types
|
31
|
+
# @see http://www.w3.org/TR/xmlschema-2/#built-in-derived
|
32
|
+
property :ENTITIES
|
33
|
+
property :ENTITY
|
34
|
+
property :ID
|
35
|
+
property :IDREF
|
36
|
+
property :IDREFS
|
37
|
+
property :NCName
|
38
|
+
property :NMTOKEN
|
39
|
+
property :NMTOKENS
|
40
|
+
property :Name
|
41
|
+
property :byte
|
42
|
+
property :int
|
43
|
+
property :integer
|
44
|
+
property :language
|
45
|
+
property :long
|
46
|
+
property :negativeInteger
|
47
|
+
property :nonNegativeInteger
|
48
|
+
property :nonPositiveInteger
|
49
|
+
property :normalizedString
|
50
|
+
property :positiveInteger
|
51
|
+
property :short
|
52
|
+
property :token
|
53
|
+
property :unsignedByte
|
54
|
+
property :unsignedInt
|
55
|
+
property :unsignedLong
|
56
|
+
property :unsignedShort
|
57
|
+
end
|
58
|
+
end
|
@@ -0,0 +1,10 @@
|
|
1
|
+
#version 2.4
|
2
|
+
Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error
|
3
|
+
A1BG 0 genome.wustl.edu 37 19 58862784 58862784 + Missense_Mutation SNP C C T novel TCGA-E9-A22B-01A-11D-A159-09 TCGA-E9-A22B-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e46a5d19-2dd7-4c34-8fff-6276278c58b3 f948182a-f814-4e3c-83ee-82b78aa423c1 19 58862784 58862784 C T SNP A1BG NM_130786.3 human genbank 58_37c -1 reviewed missense c.883 p.A295T 0.915 HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors
|
4
|
+
A1BG 0 genome.wustl.edu 37 19 58864366 58864366 + Missense_Mutation SNP G G A rs151098196 byFrequency TCGA-E9-A1NH-01A-11D-A14G-09 TCGA-E9-A1NH-11A-33D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 13c312ec-0add-4758-ab8d-c193e2e08c6d 0ee95056-a7cc-415c-a487-3ad08604dfc0 19 58864366 58864366 G A SNP A1BG NM_130786.3 human genbank 58_37c -1 reviewed missense c.268 p.R90C 0.950 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors
|
5
|
+
A1CF 29974 genome.wustl.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A novel TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2 8c059d33-23de-439a-914a-290527c5efbe 10 52595854 52595854 G A SNP A1CF NM_138932.1 human genbank 58_37c -1 reviewed missense c.584 p.A195V 1.000 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_dsRNA-binding domain-like,superfamily_RNA-binding domain RBD - no_errors
|
6
|
+
A1CF 29974 genome.wustl.edu 37 10 52595937 52595937 + Silent SNP G G A novel TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 52595937 52595937 G A SNP A1CF NM_138932.1 human genbank 58_37c -1 reviewed silent c.501 p.I167 0.615 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_dsRNA-binding domain-like,superfamily_RNA-binding domain RBD - no_errors
|
7
|
+
A2BP1 0 genome.wustl.edu 37 16 7568361 7568361 + Silent SNP G G C novel TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c83c7d48-8671-4f27-b3dd-05411fa2f784 c14cac2a-e308-44fa-b1af-ee51511ee0ee 16 7568361 7568361 G C SNP A2BP1 NM_145891.2 human genbank 58_37c +1 reviewed silent c.300 p.T100 0.995 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors
|
8
|
+
A2BP1 54715 genome.wustl.edu 37 16 7102099 7102099 + Missense_Mutation SNP G G T novel TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-10A-01D-A12Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 5947a9db-7d13-44ff-86ad-eb5e6c8dcec5 6a4cd52f-2247-4caf-9b37-e90b02fd4d8b 16 7102099 7102099 G T SNP A2BP1 NM_001142334.1 human genbank 58_37c +1 reviewed missense c.27 p.R9S 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors
|
9
|
+
A2BP1 54715 genome.wustl.edu 37 16 7383011 7383011 + Silent SNP G G A novel TCGA-AR-A1AJ-01A-21D-A12Q-09 TCGA-AR-A1AJ-10A-01D-A12Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 4e1f9084-4729-4b3f-b036-6226d64fd25b 63ee3781-4578-4d19-88e4-c8785fc7987e 16 7383011 7383011 G A SNP A2BP1 NM_145891.2 human genbank 58_37c +1 reviewed silent c.9 p.A3 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors
|
10
|
+
A2M 2 genome.wustl.edu 37 12 9251298 9251298 + Nonsense_Mutation SNP G G A novel TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Illumina_WXS_gDNA 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 12 9251298 9251298 G A SNP A2M NM_000014.4 human genbank 58_37c -1 reviewed nonsense c.1756 p.R586* 0.003 HMMPfam_A2M_N_2 HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors
|
@@ -0,0 +1,1173 @@
|
|
1
|
+
@base <http://onto.strinz.me/dc/dataset/maf_example/> .
|
2
|
+
@prefix ns: <http://onto.strinz.me/dc/dataset/maf_example/> .
|
3
|
+
@prefix qb: <http://purl.org/linked-data/cube#> .
|
4
|
+
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
|
5
|
+
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
|
6
|
+
@prefix prop: <http://onto.strinz.me/properties/> .
|
7
|
+
@prefix dct: <http://purl.org/dc/terms/> .
|
8
|
+
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
|
9
|
+
@prefix cs: <http://onto.strinz.me/dc/dataset/maf_example/cs/> .
|
10
|
+
@prefix code: <http://onto.strinz.me/dc/dataset/maf_example/code/> .
|
11
|
+
@prefix owl: <http://www.w3.org/2002/07/owl#> .
|
12
|
+
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
|
13
|
+
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
|
14
|
+
@prefix org: <http://www.w3.org/ns/org#> .
|
15
|
+
@prefix prov: <http://www.w3.org/ns/prov#> .
|
16
|
+
|
17
|
+
ns:dsd-maf_example a qb:DataStructureDefinition;
|
18
|
+
qb:component cs:Variant_Classification ;
|
19
|
+
qb:component cs:Variant_Type ;
|
20
|
+
qb:component cs:dbSNP_Val_Status ;
|
21
|
+
qb:component cs:Verification_Status ;
|
22
|
+
qb:component cs:Validation_Status ;
|
23
|
+
qb:component cs:Mutation_Status ;
|
24
|
+
qb:component cs:Sequence_Source ;
|
25
|
+
qb:component cs:Sequencer ;
|
26
|
+
qb:component cs:Hugo_Symbol ;
|
27
|
+
qb:component cs:Entrez_Gene_Id ;
|
28
|
+
qb:component cs:Center ;
|
29
|
+
qb:component cs:NCBI_Build ;
|
30
|
+
qb:component cs:Chromosome ;
|
31
|
+
qb:component cs:Start_Position ;
|
32
|
+
qb:component cs:End_Position ;
|
33
|
+
qb:component cs:Strand ;
|
34
|
+
qb:component cs:Reference_Allele ;
|
35
|
+
qb:component cs:Tumor_Seq_Allele1 ;
|
36
|
+
qb:component cs:Tumor_Seq_Allele2 ;
|
37
|
+
qb:component cs:dbSNP_RS ;
|
38
|
+
qb:component cs:Tumor_Sample_Barcode ;
|
39
|
+
qb:component cs:Matched_Norm_Sample_Barcode ;
|
40
|
+
qb:component cs:Match_Norm_Seq_Allele1 ;
|
41
|
+
qb:component cs:Match_Norm_Seq_Allele2 ;
|
42
|
+
qb:component cs:Tumor_Validation_Allele1 ;
|
43
|
+
qb:component cs:Tumor_Validation_Allele2 ;
|
44
|
+
qb:component cs:Match_Norm_Validation_Allele1 ;
|
45
|
+
qb:component cs:Match_Norm_Validation_Allele2 ;
|
46
|
+
qb:component cs:Sequencing_Phase ;
|
47
|
+
qb:component cs:Validation_Method ;
|
48
|
+
qb:component cs:Score ;
|
49
|
+
qb:component cs:BAM_File ;
|
50
|
+
qb:component cs:Tumor_Sample_UUID ;
|
51
|
+
qb:component cs:Matched_Norm_Sample_UUID ;
|
52
|
+
qb:component cs:patient_id ;
|
53
|
+
qb:component cs:sample_id .
|
54
|
+
|
55
|
+
ns:dataset-maf_example a qb:DataSet ;
|
56
|
+
rdfs:label "maf_example"@en ;
|
57
|
+
qb:structure ns:dsd-maf_example .
|
58
|
+
|
59
|
+
cs:Variant_Classification a qb:ComponentSpecification ;
|
60
|
+
rdfs:label "Variant_Classification" ;
|
61
|
+
qb:dimension prop:Variant_Classification .
|
62
|
+
|
63
|
+
cs:Variant_Type a qb:ComponentSpecification ;
|
64
|
+
rdfs:label "Variant_Type" ;
|
65
|
+
qb:dimension prop:Variant_Type .
|
66
|
+
|
67
|
+
cs:dbSNP_Val_Status a qb:ComponentSpecification ;
|
68
|
+
rdfs:label "dbSNP_Val_Status" ;
|
69
|
+
qb:dimension prop:dbSNP_Val_Status .
|
70
|
+
|
71
|
+
cs:Verification_Status a qb:ComponentSpecification ;
|
72
|
+
rdfs:label "Verification_Status" ;
|
73
|
+
qb:dimension prop:Verification_Status .
|
74
|
+
|
75
|
+
cs:Validation_Status a qb:ComponentSpecification ;
|
76
|
+
rdfs:label "Validation_Status" ;
|
77
|
+
qb:dimension prop:Validation_Status .
|
78
|
+
|
79
|
+
cs:Mutation_Status a qb:ComponentSpecification ;
|
80
|
+
rdfs:label "Mutation_Status" ;
|
81
|
+
qb:dimension prop:Mutation_Status .
|
82
|
+
|
83
|
+
cs:Sequence_Source a qb:ComponentSpecification ;
|
84
|
+
rdfs:label "Sequence_Source" ;
|
85
|
+
qb:dimension prop:Sequence_Source .
|
86
|
+
|
87
|
+
cs:Sequencer a qb:ComponentSpecification ;
|
88
|
+
rdfs:label "Sequencer" ;
|
89
|
+
qb:dimension prop:Sequencer .
|
90
|
+
|
91
|
+
cs:Hugo_Symbol a qb:ComponentSpecification ;
|
92
|
+
rdfs:label "Hugo_Symbol" ;
|
93
|
+
qb:measure prop:Hugo_Symbol .
|
94
|
+
|
95
|
+
cs:Entrez_Gene_Id a qb:ComponentSpecification ;
|
96
|
+
rdfs:label "Entrez_Gene_Id" ;
|
97
|
+
qb:measure prop:Entrez_Gene_Id .
|
98
|
+
|
99
|
+
cs:Center a qb:ComponentSpecification ;
|
100
|
+
rdfs:label "Center" ;
|
101
|
+
qb:measure prop:Center .
|
102
|
+
|
103
|
+
cs:NCBI_Build a qb:ComponentSpecification ;
|
104
|
+
rdfs:label "NCBI_Build" ;
|
105
|
+
qb:measure prop:NCBI_Build .
|
106
|
+
|
107
|
+
cs:Chromosome a qb:ComponentSpecification ;
|
108
|
+
rdfs:label "Chromosome" ;
|
109
|
+
qb:measure prop:Chromosome .
|
110
|
+
|
111
|
+
cs:Start_Position a qb:ComponentSpecification ;
|
112
|
+
rdfs:label "Start_Position" ;
|
113
|
+
qb:measure prop:Start_Position .
|
114
|
+
|
115
|
+
cs:End_Position a qb:ComponentSpecification ;
|
116
|
+
rdfs:label "End_Position" ;
|
117
|
+
qb:measure prop:End_Position .
|
118
|
+
|
119
|
+
cs:Strand a qb:ComponentSpecification ;
|
120
|
+
rdfs:label "Strand" ;
|
121
|
+
qb:measure prop:Strand .
|
122
|
+
|
123
|
+
cs:Reference_Allele a qb:ComponentSpecification ;
|
124
|
+
rdfs:label "Reference_Allele" ;
|
125
|
+
qb:measure prop:Reference_Allele .
|
126
|
+
|
127
|
+
cs:Tumor_Seq_Allele1 a qb:ComponentSpecification ;
|
128
|
+
rdfs:label "Tumor_Seq_Allele1" ;
|
129
|
+
qb:measure prop:Tumor_Seq_Allele1 .
|
130
|
+
|
131
|
+
cs:Tumor_Seq_Allele2 a qb:ComponentSpecification ;
|
132
|
+
rdfs:label "Tumor_Seq_Allele2" ;
|
133
|
+
qb:measure prop:Tumor_Seq_Allele2 .
|
134
|
+
|
135
|
+
cs:dbSNP_RS a qb:ComponentSpecification ;
|
136
|
+
rdfs:label "dbSNP_RS" ;
|
137
|
+
qb:measure prop:dbSNP_RS .
|
138
|
+
|
139
|
+
cs:Tumor_Sample_Barcode a qb:ComponentSpecification ;
|
140
|
+
rdfs:label "Tumor_Sample_Barcode" ;
|
141
|
+
qb:measure prop:Tumor_Sample_Barcode .
|
142
|
+
|
143
|
+
cs:Matched_Norm_Sample_Barcode a qb:ComponentSpecification ;
|
144
|
+
rdfs:label "Matched_Norm_Sample_Barcode" ;
|
145
|
+
qb:measure prop:Matched_Norm_Sample_Barcode .
|
146
|
+
|
147
|
+
cs:Match_Norm_Seq_Allele1 a qb:ComponentSpecification ;
|
148
|
+
rdfs:label "Match_Norm_Seq_Allele1" ;
|
149
|
+
qb:measure prop:Match_Norm_Seq_Allele1 .
|
150
|
+
|
151
|
+
cs:Match_Norm_Seq_Allele2 a qb:ComponentSpecification ;
|
152
|
+
rdfs:label "Match_Norm_Seq_Allele2" ;
|
153
|
+
qb:measure prop:Match_Norm_Seq_Allele2 .
|
154
|
+
|
155
|
+
cs:Tumor_Validation_Allele1 a qb:ComponentSpecification ;
|
156
|
+
rdfs:label "Tumor_Validation_Allele1" ;
|
157
|
+
qb:measure prop:Tumor_Validation_Allele1 .
|
158
|
+
|
159
|
+
cs:Tumor_Validation_Allele2 a qb:ComponentSpecification ;
|
160
|
+
rdfs:label "Tumor_Validation_Allele2" ;
|
161
|
+
qb:measure prop:Tumor_Validation_Allele2 .
|
162
|
+
|
163
|
+
cs:Match_Norm_Validation_Allele1 a qb:ComponentSpecification ;
|
164
|
+
rdfs:label "Match_Norm_Validation_Allele1" ;
|
165
|
+
qb:measure prop:Match_Norm_Validation_Allele1 .
|
166
|
+
|
167
|
+
cs:Match_Norm_Validation_Allele2 a qb:ComponentSpecification ;
|
168
|
+
rdfs:label "Match_Norm_Validation_Allele2" ;
|
169
|
+
qb:measure prop:Match_Norm_Validation_Allele2 .
|
170
|
+
|
171
|
+
cs:Sequencing_Phase a qb:ComponentSpecification ;
|
172
|
+
rdfs:label "Sequencing_Phase" ;
|
173
|
+
qb:measure prop:Sequencing_Phase .
|
174
|
+
|
175
|
+
cs:Validation_Method a qb:ComponentSpecification ;
|
176
|
+
rdfs:label "Validation_Method" ;
|
177
|
+
qb:measure prop:Validation_Method .
|
178
|
+
|
179
|
+
cs:Score a qb:ComponentSpecification ;
|
180
|
+
rdfs:label "Score" ;
|
181
|
+
qb:measure prop:Score .
|
182
|
+
|
183
|
+
cs:BAM_File a qb:ComponentSpecification ;
|
184
|
+
rdfs:label "BAM_File" ;
|
185
|
+
qb:measure prop:BAM_File .
|
186
|
+
|
187
|
+
cs:Tumor_Sample_UUID a qb:ComponentSpecification ;
|
188
|
+
rdfs:label "Tumor_Sample_UUID" ;
|
189
|
+
qb:measure prop:Tumor_Sample_UUID .
|
190
|
+
|
191
|
+
cs:Matched_Norm_Sample_UUID a qb:ComponentSpecification ;
|
192
|
+
rdfs:label "Matched_Norm_Sample_UUID" ;
|
193
|
+
qb:measure prop:Matched_Norm_Sample_UUID .
|
194
|
+
|
195
|
+
cs:patient_id a qb:ComponentSpecification ;
|
196
|
+
rdfs:label "patient_id" ;
|
197
|
+
qb:measure prop:patient_id .
|
198
|
+
|
199
|
+
cs:sample_id a qb:ComponentSpecification ;
|
200
|
+
rdfs:label "sample_id" ;
|
201
|
+
qb:measure prop:sample_id .
|
202
|
+
|
203
|
+
prop:Hugo_Symbol a rdf:Property, qb:MeasureProperty ;
|
204
|
+
rdfs:label "Hugo_Symbol"@en .
|
205
|
+
|
206
|
+
prop:Entrez_Gene_Id a rdf:Property, qb:MeasureProperty ;
|
207
|
+
rdfs:label "Entrez_Gene_Id"@en .
|
208
|
+
|
209
|
+
prop:Center a rdf:Property, qb:MeasureProperty ;
|
210
|
+
rdfs:label "Center"@en ;
|
211
|
+
rdfs:range xsd:string .
|
212
|
+
|
213
|
+
prop:NCBI_Build a rdf:Property, qb:MeasureProperty ;
|
214
|
+
rdfs:label "NCBI_Build"@en ;
|
215
|
+
rdfs:range xsd:int .
|
216
|
+
|
217
|
+
prop:Chromosome a rdf:Property, qb:MeasureProperty ;
|
218
|
+
rdfs:label "Chromosome"@en ;
|
219
|
+
rdfs:range xsd:int .
|
220
|
+
|
221
|
+
prop:Start_Position a rdf:Property, qb:MeasureProperty ;
|
222
|
+
rdfs:label "Start_Position"@en .
|
223
|
+
|
224
|
+
prop:End_Position a rdf:Property, qb:MeasureProperty ;
|
225
|
+
rdfs:label "End_Position"@en .
|
226
|
+
|
227
|
+
prop:Strand a rdf:Property, qb:MeasureProperty ;
|
228
|
+
rdfs:label "Strand"@en .
|
229
|
+
|
230
|
+
prop:Reference_Allele a rdf:Property, qb:MeasureProperty ;
|
231
|
+
rdfs:label "Reference_Allele"@en .
|
232
|
+
|
233
|
+
prop:Tumor_Seq_Allele1 a rdf:Property, qb:MeasureProperty ;
|
234
|
+
rdfs:label "Tumor_Seq_Allele1"@en .
|
235
|
+
|
236
|
+
prop:Tumor_Seq_Allele2 a rdf:Property, qb:MeasureProperty ;
|
237
|
+
rdfs:label "Tumor_Seq_Allele2"@en .
|
238
|
+
|
239
|
+
prop:dbSNP_RS a rdf:Property, qb:MeasureProperty ;
|
240
|
+
rdfs:label "dbSNP_RS"@en .
|
241
|
+
|
242
|
+
prop:Tumor_Sample_Barcode a rdf:Property, qb:MeasureProperty ;
|
243
|
+
rdfs:label "Tumor_Sample_Barcode"@en ;
|
244
|
+
rdfs:range xsd:string .
|
245
|
+
|
246
|
+
prop:Matched_Norm_Sample_Barcode a rdf:Property, qb:MeasureProperty ;
|
247
|
+
rdfs:label "Matched_Norm_Sample_Barcode"@en .
|
248
|
+
|
249
|
+
prop:Match_Norm_Seq_Allele1 a rdf:Property, qb:MeasureProperty ;
|
250
|
+
rdfs:label "Match_Norm_Seq_Allele1"@en .
|
251
|
+
|
252
|
+
prop:Match_Norm_Seq_Allele2 a rdf:Property, qb:MeasureProperty ;
|
253
|
+
rdfs:label "Match_Norm_Seq_Allele2"@en .
|
254
|
+
|
255
|
+
prop:Tumor_Validation_Allele1 a rdf:Property, qb:MeasureProperty ;
|
256
|
+
rdfs:label "Tumor_Validation_Allele1"@en .
|
257
|
+
|
258
|
+
prop:Tumor_Validation_Allele2 a rdf:Property, qb:MeasureProperty ;
|
259
|
+
rdfs:label "Tumor_Validation_Allele2"@en .
|
260
|
+
|
261
|
+
prop:Match_Norm_Validation_Allele1 a rdf:Property, qb:MeasureProperty ;
|
262
|
+
rdfs:label "Match_Norm_Validation_Allele1"@en .
|
263
|
+
|
264
|
+
prop:Match_Norm_Validation_Allele2 a rdf:Property, qb:MeasureProperty ;
|
265
|
+
rdfs:label "Match_Norm_Validation_Allele2"@en .
|
266
|
+
|
267
|
+
prop:Sequencing_Phase a rdf:Property, qb:MeasureProperty ;
|
268
|
+
rdfs:label "Sequencing_Phase"@en .
|
269
|
+
|
270
|
+
prop:Validation_Method a rdf:Property, qb:MeasureProperty ;
|
271
|
+
rdfs:label "Validation_Method"@en .
|
272
|
+
|
273
|
+
prop:Score a rdf:Property, qb:MeasureProperty ;
|
274
|
+
rdfs:label "Score"@en .
|
275
|
+
|
276
|
+
prop:BAM_File a rdf:Property, qb:MeasureProperty ;
|
277
|
+
rdfs:label "BAM_File"@en .
|
278
|
+
|
279
|
+
prop:Tumor_Sample_UUID a rdf:Property, qb:MeasureProperty ;
|
280
|
+
rdfs:label "Tumor_Sample_UUID"@en .
|
281
|
+
|
282
|
+
prop:Matched_Norm_Sample_UUID a rdf:Property, qb:MeasureProperty ;
|
283
|
+
rdfs:label "Matched_Norm_Sample_UUID"@en .
|
284
|
+
|
285
|
+
prop:patient_id a rdf:Property, qb:MeasureProperty ;
|
286
|
+
rdfs:label "patient_id"@en .
|
287
|
+
|
288
|
+
prop:sample_id a rdf:Property, qb:MeasureProperty ;
|
289
|
+
rdfs:label "sample_id"@en .
|
290
|
+
|
291
|
+
prop:Variant_Classification a rdf:Property, qb:DimensionProperty ;
|
292
|
+
rdfs:label "Variant_Classification"@en ;
|
293
|
+
qb:codeList code:variant_classification ;
|
294
|
+
rdfs:range code:Variant_classification .
|
295
|
+
|
296
|
+
prop:Variant_Type a rdf:Property, qb:DimensionProperty ;
|
297
|
+
rdfs:label "Variant_Type"@en ;
|
298
|
+
qb:codeList code:variant_type ;
|
299
|
+
rdfs:range code:Variant_type .
|
300
|
+
|
301
|
+
prop:dbSNP_Val_Status a rdf:Property, qb:DimensionProperty ;
|
302
|
+
rdfs:label "dbSNP_Val_Status"@en ;
|
303
|
+
qb:codeList code:dbsnp_val_status ;
|
304
|
+
rdfs:range code:Dbsnp_val_status .
|
305
|
+
|
306
|
+
prop:Verification_Status a rdf:Property, qb:DimensionProperty ;
|
307
|
+
rdfs:label "Verification_Status"@en ;
|
308
|
+
qb:codeList code:verification_status ;
|
309
|
+
rdfs:range code:Verification_status .
|
310
|
+
|
311
|
+
prop:Validation_Status a rdf:Property, qb:DimensionProperty ;
|
312
|
+
rdfs:label "Validation_Status"@en ;
|
313
|
+
qb:codeList code:validation_status ;
|
314
|
+
rdfs:range code:Validation_status .
|
315
|
+
|
316
|
+
prop:Mutation_Status a rdf:Property, qb:DimensionProperty ;
|
317
|
+
rdfs:label "Mutation_Status"@en ;
|
318
|
+
qb:codeList code:mutation_status ;
|
319
|
+
rdfs:range code:Mutation_status .
|
320
|
+
|
321
|
+
prop:Sequence_Source a rdf:Property, qb:DimensionProperty ;
|
322
|
+
rdfs:label "Sequence_Source"@en ;
|
323
|
+
qb:codeList code:sequence_source ;
|
324
|
+
rdfs:range code:Sequence_source .
|
325
|
+
|
326
|
+
prop:Sequencer a rdf:Property, qb:DimensionProperty ;
|
327
|
+
rdfs:label "Sequencer"@en ;
|
328
|
+
qb:codeList code:sequencer ;
|
329
|
+
rdfs:range code:Sequencer .
|
330
|
+
|
331
|
+
code:Variant_classification a rdfs:Class, owl:Class;
|
332
|
+
rdfs:subClassOf skos:Concept ;
|
333
|
+
rdfs:label "Code list for variant_classification - codelist class"@en;
|
334
|
+
rdfs:comment "Specifies the variant_classification for each observation";
|
335
|
+
rdfs:seeAlso code:variant_classification .
|
336
|
+
|
337
|
+
code:variant_classification a skos:ConceptScheme;
|
338
|
+
skos:prefLabel "Code list for variant_classification - codelist scheme"@en;
|
339
|
+
rdfs:label "Code list for variant_classification - codelist scheme"@en;
|
340
|
+
skos:notation "CL_VARIANT_CLASSIFICATION";
|
341
|
+
skos:note "Specifies the variant_classification for each observation";
|
342
|
+
skos:hasTopConcept <code/variant_classification/Frame_Shift_Del> ;
|
343
|
+
skos:hasTopConcept <code/variant_classification/Frame_Shift_Ins> ;
|
344
|
+
skos:hasTopConcept <code/variant_classification/In_Frame_Del> ;
|
345
|
+
skos:hasTopConcept <code/variant_classification/In_Frame_Ins> ;
|
346
|
+
skos:hasTopConcept <code/variant_classification/Missense_Mutation> ;
|
347
|
+
skos:hasTopConcept <code/variant_classification/Nonsense_Mutation> ;
|
348
|
+
skos:hasTopConcept <code/variant_classification/Silent> ;
|
349
|
+
skos:hasTopConcept <code/variant_classification/Splice_Site> ;
|
350
|
+
skos:hasTopConcept <code/variant_classification/Translation_Start_Site> ;
|
351
|
+
skos:hasTopConcept <code/variant_classification/Nonstop_Mutation> ;
|
352
|
+
skos:hasTopConcept <code/variant_classification/3'UTR> ;
|
353
|
+
skos:hasTopConcept <code/variant_classification/3'Flank> ;
|
354
|
+
skos:hasTopConcept <code/variant_classification/5'UTR> ;
|
355
|
+
skos:hasTopConcept <code/variant_classification/5'Flank> ;
|
356
|
+
skos:hasTopConcept <code/variant_classification/IGR1> ;
|
357
|
+
skos:hasTopConcept <code/variant_classification/Intron> ;
|
358
|
+
skos:hasTopConcept <code/variant_classification/RNA> ;
|
359
|
+
skos:hasTopConcept <code/variant_classification/Targeted_Region> ;
|
360
|
+
.
|
361
|
+
|
362
|
+
code:Variant_type a rdfs:Class, owl:Class;
|
363
|
+
rdfs:subClassOf skos:Concept ;
|
364
|
+
rdfs:label "Code list for variant_type - codelist class"@en;
|
365
|
+
rdfs:comment "Specifies the variant_type for each observation";
|
366
|
+
rdfs:seeAlso code:variant_type .
|
367
|
+
|
368
|
+
code:variant_type a skos:ConceptScheme;
|
369
|
+
skos:prefLabel "Code list for variant_type - codelist scheme"@en;
|
370
|
+
rdfs:label "Code list for variant_type - codelist scheme"@en;
|
371
|
+
skos:notation "CL_VARIANT_TYPE";
|
372
|
+
skos:note "Specifies the variant_type for each observation";
|
373
|
+
skos:hasTopConcept <code/variant_type/SNP> ;
|
374
|
+
skos:hasTopConcept <code/variant_type/DNP> ;
|
375
|
+
skos:hasTopConcept <code/variant_type/TNP> ;
|
376
|
+
skos:hasTopConcept <code/variant_type/ONP> ;
|
377
|
+
skos:hasTopConcept <code/variant_type/INS> ;
|
378
|
+
skos:hasTopConcept <code/variant_type/DEL> ;
|
379
|
+
skos:hasTopConcept <code/variant_type/Consolidated> ;
|
380
|
+
.
|
381
|
+
|
382
|
+
code:Dbsnp_val_status a rdfs:Class, owl:Class;
|
383
|
+
rdfs:subClassOf skos:Concept ;
|
384
|
+
rdfs:label "Code list for dbsnp_val_status - codelist class"@en;
|
385
|
+
rdfs:comment "Specifies the dbsnp_val_status for each observation";
|
386
|
+
rdfs:seeAlso code:dbsnp_val_status .
|
387
|
+
|
388
|
+
code:dbsnp_val_status a skos:ConceptScheme;
|
389
|
+
skos:prefLabel "Code list for dbsnp_val_status - codelist scheme"@en;
|
390
|
+
rdfs:label "Code list for dbsnp_val_status - codelist scheme"@en;
|
391
|
+
skos:notation "CL_DBSNP_VAL_STATUS";
|
392
|
+
skos:note "Specifies the dbsnp_val_status for each observation";
|
393
|
+
skos:hasTopConcept <code/dbsnp_val_status/by1000genomes> ;
|
394
|
+
skos:hasTopConcept <code/dbsnp_val_status/by2Hit2Allele> ;
|
395
|
+
skos:hasTopConcept <code/dbsnp_val_status/byCluster> ;
|
396
|
+
skos:hasTopConcept <code/dbsnp_val_status/byFrequency> ;
|
397
|
+
skos:hasTopConcept <code/dbsnp_val_status/byHapMap> ;
|
398
|
+
skos:hasTopConcept <code/dbsnp_val_status/byOtherPop> ;
|
399
|
+
skos:hasTopConcept <code/dbsnp_val_status/bySubmitter> ;
|
400
|
+
skos:hasTopConcept <code/dbsnp_val_status/alternate_allele> ;
|
401
|
+
.
|
402
|
+
|
403
|
+
code:Verification_status a rdfs:Class, owl:Class;
|
404
|
+
rdfs:subClassOf skos:Concept ;
|
405
|
+
rdfs:label "Code list for verification_status - codelist class"@en;
|
406
|
+
rdfs:comment "Specifies the verification_status for each observation";
|
407
|
+
rdfs:seeAlso code:verification_status .
|
408
|
+
|
409
|
+
code:verification_status a skos:ConceptScheme;
|
410
|
+
skos:prefLabel "Code list for verification_status - codelist scheme"@en;
|
411
|
+
rdfs:label "Code list for verification_status - codelist scheme"@en;
|
412
|
+
skos:notation "CL_VERIFICATION_STATUS";
|
413
|
+
skos:note "Specifies the verification_status for each observation";
|
414
|
+
skos:hasTopConcept <code/verification_status/Verified,> ;
|
415
|
+
skos:hasTopConcept <code/verification_status/Unknown> ;
|
416
|
+
.
|
417
|
+
|
418
|
+
code:Validation_status a rdfs:Class, owl:Class;
|
419
|
+
rdfs:subClassOf skos:Concept ;
|
420
|
+
rdfs:label "Code list for validation_status - codelist class"@en;
|
421
|
+
rdfs:comment "Specifies the validation_status for each observation";
|
422
|
+
rdfs:seeAlso code:validation_status .
|
423
|
+
|
424
|
+
code:validation_status a skos:ConceptScheme;
|
425
|
+
skos:prefLabel "Code list for validation_status - codelist scheme"@en;
|
426
|
+
rdfs:label "Code list for validation_status - codelist scheme"@en;
|
427
|
+
skos:notation "CL_VALIDATION_STATUS";
|
428
|
+
skos:note "Specifies the validation_status for each observation";
|
429
|
+
skos:hasTopConcept <code/validation_status/Untested> ;
|
430
|
+
skos:hasTopConcept <code/validation_status/Inconclusive> ;
|
431
|
+
skos:hasTopConcept <code/validation_status/Valid> ;
|
432
|
+
skos:hasTopConcept <code/validation_status/Invalid> ;
|
433
|
+
.
|
434
|
+
|
435
|
+
code:Mutation_status a rdfs:Class, owl:Class;
|
436
|
+
rdfs:subClassOf skos:Concept ;
|
437
|
+
rdfs:label "Code list for mutation_status - codelist class"@en;
|
438
|
+
rdfs:comment "Specifies the mutation_status for each observation";
|
439
|
+
rdfs:seeAlso code:mutation_status .
|
440
|
+
|
441
|
+
code:mutation_status a skos:ConceptScheme;
|
442
|
+
skos:prefLabel "Code list for mutation_status - codelist scheme"@en;
|
443
|
+
rdfs:label "Code list for mutation_status - codelist scheme"@en;
|
444
|
+
skos:notation "CL_MUTATION_STATUS";
|
445
|
+
skos:note "Specifies the mutation_status for each observation";
|
446
|
+
skos:hasTopConcept <code/mutation_status/None> ;
|
447
|
+
skos:hasTopConcept <code/mutation_status/Germline> ;
|
448
|
+
skos:hasTopConcept <code/mutation_status/Somatic> ;
|
449
|
+
skos:hasTopConcept <code/mutation_status/LOH> ;
|
450
|
+
skos:hasTopConcept <code/mutation_status/Post-transcriptional> ;
|
451
|
+
skos:hasTopConcept <code/mutation_status/modification> ;
|
452
|
+
skos:hasTopConcept <code/mutation_status/Unknown> ;
|
453
|
+
.
|
454
|
+
|
455
|
+
code:Sequence_source a rdfs:Class, owl:Class;
|
456
|
+
rdfs:subClassOf skos:Concept ;
|
457
|
+
rdfs:label "Code list for sequence_source - codelist class"@en;
|
458
|
+
rdfs:comment "Specifies the sequence_source for each observation";
|
459
|
+
rdfs:seeAlso code:sequence_source .
|
460
|
+
|
461
|
+
code:sequence_source a skos:ConceptScheme;
|
462
|
+
skos:prefLabel "Code list for sequence_source - codelist scheme"@en;
|
463
|
+
rdfs:label "Code list for sequence_source - codelist scheme"@en;
|
464
|
+
skos:notation "CL_SEQUENCE_SOURCE";
|
465
|
+
skos:note "Specifies the sequence_source for each observation";
|
466
|
+
skos:hasTopConcept <code/sequence_source/WGS> ;
|
467
|
+
skos:hasTopConcept <code/sequence_source/WGA> ;
|
468
|
+
skos:hasTopConcept <code/sequence_source/WXS> ;
|
469
|
+
skos:hasTopConcept <code/sequence_source/RNA-Seq> ;
|
470
|
+
skos:hasTopConcept <code/sequence_source/miRNA-Seq> ;
|
471
|
+
skos:hasTopConcept <code/sequence_source/Bisulfite-Seq> ;
|
472
|
+
skos:hasTopConcept <code/sequence_source/VALIDATION> ;
|
473
|
+
skos:hasTopConcept <code/sequence_source/Other> ;
|
474
|
+
skos:hasTopConcept <code/sequence_source/ncRNA-Seq> ;
|
475
|
+
skos:hasTopConcept <code/sequence_source/WCS> ;
|
476
|
+
skos:hasTopConcept <code/sequence_source/CLONE> ;
|
477
|
+
skos:hasTopConcept <code/sequence_source/POOLCLONE> ;
|
478
|
+
skos:hasTopConcept <code/sequence_source/AMPLICON> ;
|
479
|
+
skos:hasTopConcept <code/sequence_source/CLONEEND> ;
|
480
|
+
skos:hasTopConcept <code/sequence_source/FINISHING> ;
|
481
|
+
skos:hasTopConcept <code/sequence_source/ChIP-Seq> ;
|
482
|
+
skos:hasTopConcept <code/sequence_source/MNase-Seq> ;
|
483
|
+
skos:hasTopConcept <code/sequence_source/DNase-Hypersensitivity> ;
|
484
|
+
skos:hasTopConcept <code/sequence_source/EST> ;
|
485
|
+
skos:hasTopConcept <code/sequence_source/FL-cDNA> ;
|
486
|
+
skos:hasTopConcept <code/sequence_source/CTS> ;
|
487
|
+
skos:hasTopConcept <code/sequence_source/MRE-Seq> ;
|
488
|
+
skos:hasTopConcept <code/sequence_source/MeDIP-Seq> ;
|
489
|
+
skos:hasTopConcept <code/sequence_source/MBD-Seq> ;
|
490
|
+
skos:hasTopConcept <code/sequence_source/Tn-Seq> ;
|
491
|
+
skos:hasTopConcept <code/sequence_source/FAIRE-seq> ;
|
492
|
+
skos:hasTopConcept <code/sequence_source/SELEX> ;
|
493
|
+
skos:hasTopConcept <code/sequence_source/RIP-Seq> ;
|
494
|
+
skos:hasTopConcept <code/sequence_source/ChIA-PET> ;
|
495
|
+
.
|
496
|
+
|
497
|
+
code:Sequencer a rdfs:Class, owl:Class;
|
498
|
+
rdfs:subClassOf skos:Concept ;
|
499
|
+
rdfs:label "Code list for sequencer - codelist class"@en;
|
500
|
+
rdfs:comment "Specifies the sequencer for each observation";
|
501
|
+
rdfs:seeAlso code:sequencer .
|
502
|
+
|
503
|
+
code:sequencer a skos:ConceptScheme;
|
504
|
+
skos:prefLabel "Code list for sequencer - codelist scheme"@en;
|
505
|
+
rdfs:label "Code list for sequencer - codelist scheme"@en;
|
506
|
+
skos:notation "CL_SEQUENCER";
|
507
|
+
skos:note "Specifies the sequencer for each observation";
|
508
|
+
skos:hasTopConcept <code/sequencer/Illumina_GAIIx> ;
|
509
|
+
skos:hasTopConcept <code/sequencer/Illumina_HiSeq> ;
|
510
|
+
skos:hasTopConcept <code/sequencer/SOLID> ;
|
511
|
+
skos:hasTopConcept <code/sequencer/454> ;
|
512
|
+
skos:hasTopConcept <code/sequencer/ABI_3730xl> ;
|
513
|
+
skos:hasTopConcept <code/sequencer/Ion_Torrent_PGM> ;
|
514
|
+
skos:hasTopConcept <code/sequencer/Ion_Torrent_Proton> ;
|
515
|
+
skos:hasTopConcept <code/sequencer/PacBio_RS> ;
|
516
|
+
skos:hasTopConcept <code/sequencer/Illumina_MiSeq> ;
|
517
|
+
skos:hasTopConcept <code/sequencer/Illumina_HiSeq_2500> ;
|
518
|
+
skos:hasTopConcept <code/sequencer/454_GS_FLX_Titanium> ;
|
519
|
+
skos:hasTopConcept <code/sequencer/AB_SOLiD_4_System> ;
|
520
|
+
.
|
521
|
+
|
522
|
+
<code/variant_classification/Frame_Shift_Del> a skos:Concept, code:Variant_classification;
|
523
|
+
skos:topConceptOf code:variant_classification ;
|
524
|
+
skos:prefLabel "Frame_Shift_Del" ;
|
525
|
+
skos:inScheme code:variant_classification .
|
526
|
+
|
527
|
+
<code/variant_classification/Frame_Shift_Ins> a skos:Concept, code:Variant_classification;
|
528
|
+
skos:topConceptOf code:variant_classification ;
|
529
|
+
skos:prefLabel "Frame_Shift_Ins" ;
|
530
|
+
skos:inScheme code:variant_classification .
|
531
|
+
|
532
|
+
<code/variant_classification/In_Frame_Del> a skos:Concept, code:Variant_classification;
|
533
|
+
skos:topConceptOf code:variant_classification ;
|
534
|
+
skos:prefLabel "In_Frame_Del" ;
|
535
|
+
skos:inScheme code:variant_classification .
|
536
|
+
|
537
|
+
<code/variant_classification/In_Frame_Ins> a skos:Concept, code:Variant_classification;
|
538
|
+
skos:topConceptOf code:variant_classification ;
|
539
|
+
skos:prefLabel "In_Frame_Ins" ;
|
540
|
+
skos:inScheme code:variant_classification .
|
541
|
+
|
542
|
+
<code/variant_classification/Missense_Mutation> a skos:Concept, code:Variant_classification;
|
543
|
+
skos:topConceptOf code:variant_classification ;
|
544
|
+
skos:prefLabel "Missense_Mutation" ;
|
545
|
+
skos:inScheme code:variant_classification .
|
546
|
+
|
547
|
+
<code/variant_classification/Nonsense_Mutation> a skos:Concept, code:Variant_classification;
|
548
|
+
skos:topConceptOf code:variant_classification ;
|
549
|
+
skos:prefLabel "Nonsense_Mutation" ;
|
550
|
+
skos:inScheme code:variant_classification .
|
551
|
+
|
552
|
+
<code/variant_classification/Silent> a skos:Concept, code:Variant_classification;
|
553
|
+
skos:topConceptOf code:variant_classification ;
|
554
|
+
skos:prefLabel "Silent" ;
|
555
|
+
skos:inScheme code:variant_classification .
|
556
|
+
|
557
|
+
<code/variant_classification/Splice_Site> a skos:Concept, code:Variant_classification;
|
558
|
+
skos:topConceptOf code:variant_classification ;
|
559
|
+
skos:prefLabel "Splice_Site" ;
|
560
|
+
skos:inScheme code:variant_classification .
|
561
|
+
|
562
|
+
<code/variant_classification/Translation_Start_Site> a skos:Concept, code:Variant_classification;
|
563
|
+
skos:topConceptOf code:variant_classification ;
|
564
|
+
skos:prefLabel "Translation_Start_Site" ;
|
565
|
+
skos:inScheme code:variant_classification .
|
566
|
+
|
567
|
+
<code/variant_classification/Nonstop_Mutation> a skos:Concept, code:Variant_classification;
|
568
|
+
skos:topConceptOf code:variant_classification ;
|
569
|
+
skos:prefLabel "Nonstop_Mutation" ;
|
570
|
+
skos:inScheme code:variant_classification .
|
571
|
+
|
572
|
+
<code/variant_classification/3'UTR> a skos:Concept, code:Variant_classification;
|
573
|
+
skos:topConceptOf code:variant_classification ;
|
574
|
+
skos:prefLabel "3'UTR" ;
|
575
|
+
skos:inScheme code:variant_classification .
|
576
|
+
|
577
|
+
<code/variant_classification/3'Flank> a skos:Concept, code:Variant_classification;
|
578
|
+
skos:topConceptOf code:variant_classification ;
|
579
|
+
skos:prefLabel "3'Flank" ;
|
580
|
+
skos:inScheme code:variant_classification .
|
581
|
+
|
582
|
+
<code/variant_classification/5'UTR> a skos:Concept, code:Variant_classification;
|
583
|
+
skos:topConceptOf code:variant_classification ;
|
584
|
+
skos:prefLabel "5'UTR" ;
|
585
|
+
skos:inScheme code:variant_classification .
|
586
|
+
|
587
|
+
<code/variant_classification/5'Flank> a skos:Concept, code:Variant_classification;
|
588
|
+
skos:topConceptOf code:variant_classification ;
|
589
|
+
skos:prefLabel "5'Flank" ;
|
590
|
+
skos:inScheme code:variant_classification .
|
591
|
+
|
592
|
+
<code/variant_classification/IGR1> a skos:Concept, code:Variant_classification;
|
593
|
+
skos:topConceptOf code:variant_classification ;
|
594
|
+
skos:prefLabel "IGR1" ;
|
595
|
+
skos:inScheme code:variant_classification .
|
596
|
+
|
597
|
+
<code/variant_classification/Intron> a skos:Concept, code:Variant_classification;
|
598
|
+
skos:topConceptOf code:variant_classification ;
|
599
|
+
skos:prefLabel "Intron" ;
|
600
|
+
skos:inScheme code:variant_classification .
|
601
|
+
|
602
|
+
<code/variant_classification/RNA> a skos:Concept, code:Variant_classification;
|
603
|
+
skos:topConceptOf code:variant_classification ;
|
604
|
+
skos:prefLabel "RNA" ;
|
605
|
+
skos:inScheme code:variant_classification .
|
606
|
+
|
607
|
+
<code/variant_classification/Targeted_Region> a skos:Concept, code:Variant_classification;
|
608
|
+
skos:topConceptOf code:variant_classification ;
|
609
|
+
skos:prefLabel "Targeted_Region" ;
|
610
|
+
skos:inScheme code:variant_classification .
|
611
|
+
|
612
|
+
<code/variant_type/SNP> a skos:Concept, code:Variant_type;
|
613
|
+
skos:topConceptOf code:variant_type ;
|
614
|
+
skos:prefLabel "SNP" ;
|
615
|
+
skos:inScheme code:variant_type .
|
616
|
+
|
617
|
+
<code/variant_type/DNP> a skos:Concept, code:Variant_type;
|
618
|
+
skos:topConceptOf code:variant_type ;
|
619
|
+
skos:prefLabel "DNP" ;
|
620
|
+
skos:inScheme code:variant_type .
|
621
|
+
|
622
|
+
<code/variant_type/TNP> a skos:Concept, code:Variant_type;
|
623
|
+
skos:topConceptOf code:variant_type ;
|
624
|
+
skos:prefLabel "TNP" ;
|
625
|
+
skos:inScheme code:variant_type .
|
626
|
+
|
627
|
+
<code/variant_type/ONP> a skos:Concept, code:Variant_type;
|
628
|
+
skos:topConceptOf code:variant_type ;
|
629
|
+
skos:prefLabel "ONP" ;
|
630
|
+
skos:inScheme code:variant_type .
|
631
|
+
|
632
|
+
<code/variant_type/INS> a skos:Concept, code:Variant_type;
|
633
|
+
skos:topConceptOf code:variant_type ;
|
634
|
+
skos:prefLabel "INS" ;
|
635
|
+
skos:inScheme code:variant_type .
|
636
|
+
|
637
|
+
<code/variant_type/DEL> a skos:Concept, code:Variant_type;
|
638
|
+
skos:topConceptOf code:variant_type ;
|
639
|
+
skos:prefLabel "DEL" ;
|
640
|
+
skos:inScheme code:variant_type .
|
641
|
+
|
642
|
+
<code/variant_type/Consolidated> a skos:Concept, code:Variant_type;
|
643
|
+
skos:topConceptOf code:variant_type ;
|
644
|
+
skos:prefLabel "Consolidated" ;
|
645
|
+
skos:inScheme code:variant_type .
|
646
|
+
|
647
|
+
<code/dbsnp_val_status/by1000genomes> a skos:Concept, code:Dbsnp_val_status;
|
648
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
649
|
+
skos:prefLabel "by1000genomes" ;
|
650
|
+
skos:inScheme code:dbsnp_val_status .
|
651
|
+
|
652
|
+
<code/dbsnp_val_status/by2Hit2Allele> a skos:Concept, code:Dbsnp_val_status;
|
653
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
654
|
+
skos:prefLabel "by2Hit2Allele" ;
|
655
|
+
skos:inScheme code:dbsnp_val_status .
|
656
|
+
|
657
|
+
<code/dbsnp_val_status/byCluster> a skos:Concept, code:Dbsnp_val_status;
|
658
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
659
|
+
skos:prefLabel "byCluster" ;
|
660
|
+
skos:inScheme code:dbsnp_val_status .
|
661
|
+
|
662
|
+
<code/dbsnp_val_status/byFrequency> a skos:Concept, code:Dbsnp_val_status;
|
663
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
664
|
+
skos:prefLabel "byFrequency" ;
|
665
|
+
skos:inScheme code:dbsnp_val_status .
|
666
|
+
|
667
|
+
<code/dbsnp_val_status/byHapMap> a skos:Concept, code:Dbsnp_val_status;
|
668
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
669
|
+
skos:prefLabel "byHapMap" ;
|
670
|
+
skos:inScheme code:dbsnp_val_status .
|
671
|
+
|
672
|
+
<code/dbsnp_val_status/byOtherPop> a skos:Concept, code:Dbsnp_val_status;
|
673
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
674
|
+
skos:prefLabel "byOtherPop" ;
|
675
|
+
skos:inScheme code:dbsnp_val_status .
|
676
|
+
|
677
|
+
<code/dbsnp_val_status/bySubmitter> a skos:Concept, code:Dbsnp_val_status;
|
678
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
679
|
+
skos:prefLabel "bySubmitter" ;
|
680
|
+
skos:inScheme code:dbsnp_val_status .
|
681
|
+
|
682
|
+
<code/dbsnp_val_status/alternate_allele> a skos:Concept, code:Dbsnp_val_status;
|
683
|
+
skos:topConceptOf code:dbsnp_val_status ;
|
684
|
+
skos:prefLabel "alternate_allele" ;
|
685
|
+
skos:inScheme code:dbsnp_val_status .
|
686
|
+
|
687
|
+
<code/verification_status/Verified,> a skos:Concept, code:Verification_status;
|
688
|
+
skos:topConceptOf code:verification_status ;
|
689
|
+
skos:prefLabel "Verified," ;
|
690
|
+
skos:inScheme code:verification_status .
|
691
|
+
|
692
|
+
<code/verification_status/Unknown> a skos:Concept, code:Verification_status;
|
693
|
+
skos:topConceptOf code:verification_status ;
|
694
|
+
skos:prefLabel "Unknown" ;
|
695
|
+
skos:inScheme code:verification_status .
|
696
|
+
|
697
|
+
<code/validation_status/Untested> a skos:Concept, code:Validation_status;
|
698
|
+
skos:topConceptOf code:validation_status ;
|
699
|
+
skos:prefLabel "Untested" ;
|
700
|
+
skos:inScheme code:validation_status .
|
701
|
+
|
702
|
+
<code/validation_status/Inconclusive> a skos:Concept, code:Validation_status;
|
703
|
+
skos:topConceptOf code:validation_status ;
|
704
|
+
skos:prefLabel "Inconclusive" ;
|
705
|
+
skos:inScheme code:validation_status .
|
706
|
+
|
707
|
+
<code/validation_status/Valid> a skos:Concept, code:Validation_status;
|
708
|
+
skos:topConceptOf code:validation_status ;
|
709
|
+
skos:prefLabel "Valid" ;
|
710
|
+
skos:inScheme code:validation_status .
|
711
|
+
|
712
|
+
<code/validation_status/Invalid> a skos:Concept, code:Validation_status;
|
713
|
+
skos:topConceptOf code:validation_status ;
|
714
|
+
skos:prefLabel "Invalid" ;
|
715
|
+
skos:inScheme code:validation_status .
|
716
|
+
|
717
|
+
<code/mutation_status/None> a skos:Concept, code:Mutation_status;
|
718
|
+
skos:topConceptOf code:mutation_status ;
|
719
|
+
skos:prefLabel "None" ;
|
720
|
+
skos:inScheme code:mutation_status .
|
721
|
+
|
722
|
+
<code/mutation_status/Germline> a skos:Concept, code:Mutation_status;
|
723
|
+
skos:topConceptOf code:mutation_status ;
|
724
|
+
skos:prefLabel "Germline" ;
|
725
|
+
skos:inScheme code:mutation_status .
|
726
|
+
|
727
|
+
<code/mutation_status/Somatic> a skos:Concept, code:Mutation_status;
|
728
|
+
skos:topConceptOf code:mutation_status ;
|
729
|
+
skos:prefLabel "Somatic" ;
|
730
|
+
skos:inScheme code:mutation_status .
|
731
|
+
|
732
|
+
<code/mutation_status/LOH> a skos:Concept, code:Mutation_status;
|
733
|
+
skos:topConceptOf code:mutation_status ;
|
734
|
+
skos:prefLabel "LOH" ;
|
735
|
+
skos:inScheme code:mutation_status .
|
736
|
+
|
737
|
+
<code/mutation_status/Post-transcriptional> a skos:Concept, code:Mutation_status;
|
738
|
+
skos:topConceptOf code:mutation_status ;
|
739
|
+
skos:prefLabel "Post-transcriptional" ;
|
740
|
+
skos:inScheme code:mutation_status .
|
741
|
+
|
742
|
+
<code/mutation_status/modification> a skos:Concept, code:Mutation_status;
|
743
|
+
skos:topConceptOf code:mutation_status ;
|
744
|
+
skos:prefLabel "modification" ;
|
745
|
+
skos:inScheme code:mutation_status .
|
746
|
+
|
747
|
+
<code/mutation_status/Unknown> a skos:Concept, code:Mutation_status;
|
748
|
+
skos:topConceptOf code:mutation_status ;
|
749
|
+
skos:prefLabel "Unknown" ;
|
750
|
+
skos:inScheme code:mutation_status .
|
751
|
+
|
752
|
+
<code/sequence_source/WGS> a skos:Concept, code:Sequence_source;
|
753
|
+
skos:topConceptOf code:sequence_source ;
|
754
|
+
skos:prefLabel "WGS" ;
|
755
|
+
skos:inScheme code:sequence_source .
|
756
|
+
|
757
|
+
<code/sequence_source/WGA> a skos:Concept, code:Sequence_source;
|
758
|
+
skos:topConceptOf code:sequence_source ;
|
759
|
+
skos:prefLabel "WGA" ;
|
760
|
+
skos:inScheme code:sequence_source .
|
761
|
+
|
762
|
+
<code/sequence_source/WXS> a skos:Concept, code:Sequence_source;
|
763
|
+
skos:topConceptOf code:sequence_source ;
|
764
|
+
skos:prefLabel "WXS" ;
|
765
|
+
skos:inScheme code:sequence_source .
|
766
|
+
|
767
|
+
<code/sequence_source/RNA-Seq> a skos:Concept, code:Sequence_source;
|
768
|
+
skos:topConceptOf code:sequence_source ;
|
769
|
+
skos:prefLabel "RNA-Seq" ;
|
770
|
+
skos:inScheme code:sequence_source .
|
771
|
+
|
772
|
+
<code/sequence_source/miRNA-Seq> a skos:Concept, code:Sequence_source;
|
773
|
+
skos:topConceptOf code:sequence_source ;
|
774
|
+
skos:prefLabel "miRNA-Seq" ;
|
775
|
+
skos:inScheme code:sequence_source .
|
776
|
+
|
777
|
+
<code/sequence_source/Bisulfite-Seq> a skos:Concept, code:Sequence_source;
|
778
|
+
skos:topConceptOf code:sequence_source ;
|
779
|
+
skos:prefLabel "Bisulfite-Seq" ;
|
780
|
+
skos:inScheme code:sequence_source .
|
781
|
+
|
782
|
+
<code/sequence_source/VALIDATION> a skos:Concept, code:Sequence_source;
|
783
|
+
skos:topConceptOf code:sequence_source ;
|
784
|
+
skos:prefLabel "VALIDATION" ;
|
785
|
+
skos:inScheme code:sequence_source .
|
786
|
+
|
787
|
+
<code/sequence_source/Other> a skos:Concept, code:Sequence_source;
|
788
|
+
skos:topConceptOf code:sequence_source ;
|
789
|
+
skos:prefLabel "Other" ;
|
790
|
+
skos:inScheme code:sequence_source .
|
791
|
+
|
792
|
+
<code/sequence_source/ncRNA-Seq> a skos:Concept, code:Sequence_source;
|
793
|
+
skos:topConceptOf code:sequence_source ;
|
794
|
+
skos:prefLabel "ncRNA-Seq" ;
|
795
|
+
skos:inScheme code:sequence_source .
|
796
|
+
|
797
|
+
<code/sequence_source/WCS> a skos:Concept, code:Sequence_source;
|
798
|
+
skos:topConceptOf code:sequence_source ;
|
799
|
+
skos:prefLabel "WCS" ;
|
800
|
+
skos:inScheme code:sequence_source .
|
801
|
+
|
802
|
+
<code/sequence_source/CLONE> a skos:Concept, code:Sequence_source;
|
803
|
+
skos:topConceptOf code:sequence_source ;
|
804
|
+
skos:prefLabel "CLONE" ;
|
805
|
+
skos:inScheme code:sequence_source .
|
806
|
+
|
807
|
+
<code/sequence_source/POOLCLONE> a skos:Concept, code:Sequence_source;
|
808
|
+
skos:topConceptOf code:sequence_source ;
|
809
|
+
skos:prefLabel "POOLCLONE" ;
|
810
|
+
skos:inScheme code:sequence_source .
|
811
|
+
|
812
|
+
<code/sequence_source/AMPLICON> a skos:Concept, code:Sequence_source;
|
813
|
+
skos:topConceptOf code:sequence_source ;
|
814
|
+
skos:prefLabel "AMPLICON" ;
|
815
|
+
skos:inScheme code:sequence_source .
|
816
|
+
|
817
|
+
<code/sequence_source/CLONEEND> a skos:Concept, code:Sequence_source;
|
818
|
+
skos:topConceptOf code:sequence_source ;
|
819
|
+
skos:prefLabel "CLONEEND" ;
|
820
|
+
skos:inScheme code:sequence_source .
|
821
|
+
|
822
|
+
<code/sequence_source/FINISHING> a skos:Concept, code:Sequence_source;
|
823
|
+
skos:topConceptOf code:sequence_source ;
|
824
|
+
skos:prefLabel "FINISHING" ;
|
825
|
+
skos:inScheme code:sequence_source .
|
826
|
+
|
827
|
+
<code/sequence_source/ChIP-Seq> a skos:Concept, code:Sequence_source;
|
828
|
+
skos:topConceptOf code:sequence_source ;
|
829
|
+
skos:prefLabel "ChIP-Seq" ;
|
830
|
+
skos:inScheme code:sequence_source .
|
831
|
+
|
832
|
+
<code/sequence_source/MNase-Seq> a skos:Concept, code:Sequence_source;
|
833
|
+
skos:topConceptOf code:sequence_source ;
|
834
|
+
skos:prefLabel "MNase-Seq" ;
|
835
|
+
skos:inScheme code:sequence_source .
|
836
|
+
|
837
|
+
<code/sequence_source/DNase-Hypersensitivity> a skos:Concept, code:Sequence_source;
|
838
|
+
skos:topConceptOf code:sequence_source ;
|
839
|
+
skos:prefLabel "DNase-Hypersensitivity" ;
|
840
|
+
skos:inScheme code:sequence_source .
|
841
|
+
|
842
|
+
<code/sequence_source/EST> a skos:Concept, code:Sequence_source;
|
843
|
+
skos:topConceptOf code:sequence_source ;
|
844
|
+
skos:prefLabel "EST" ;
|
845
|
+
skos:inScheme code:sequence_source .
|
846
|
+
|
847
|
+
<code/sequence_source/FL-cDNA> a skos:Concept, code:Sequence_source;
|
848
|
+
skos:topConceptOf code:sequence_source ;
|
849
|
+
skos:prefLabel "FL-cDNA" ;
|
850
|
+
skos:inScheme code:sequence_source .
|
851
|
+
|
852
|
+
<code/sequence_source/CTS> a skos:Concept, code:Sequence_source;
|
853
|
+
skos:topConceptOf code:sequence_source ;
|
854
|
+
skos:prefLabel "CTS" ;
|
855
|
+
skos:inScheme code:sequence_source .
|
856
|
+
|
857
|
+
<code/sequence_source/MRE-Seq> a skos:Concept, code:Sequence_source;
|
858
|
+
skos:topConceptOf code:sequence_source ;
|
859
|
+
skos:prefLabel "MRE-Seq" ;
|
860
|
+
skos:inScheme code:sequence_source .
|
861
|
+
|
862
|
+
<code/sequence_source/MeDIP-Seq> a skos:Concept, code:Sequence_source;
|
863
|
+
skos:topConceptOf code:sequence_source ;
|
864
|
+
skos:prefLabel "MeDIP-Seq" ;
|
865
|
+
skos:inScheme code:sequence_source .
|
866
|
+
|
867
|
+
<code/sequence_source/MBD-Seq> a skos:Concept, code:Sequence_source;
|
868
|
+
skos:topConceptOf code:sequence_source ;
|
869
|
+
skos:prefLabel "MBD-Seq" ;
|
870
|
+
skos:inScheme code:sequence_source .
|
871
|
+
|
872
|
+
<code/sequence_source/Tn-Seq> a skos:Concept, code:Sequence_source;
|
873
|
+
skos:topConceptOf code:sequence_source ;
|
874
|
+
skos:prefLabel "Tn-Seq" ;
|
875
|
+
skos:inScheme code:sequence_source .
|
876
|
+
|
877
|
+
<code/sequence_source/FAIRE-seq> a skos:Concept, code:Sequence_source;
|
878
|
+
skos:topConceptOf code:sequence_source ;
|
879
|
+
skos:prefLabel "FAIRE-seq" ;
|
880
|
+
skos:inScheme code:sequence_source .
|
881
|
+
|
882
|
+
<code/sequence_source/SELEX> a skos:Concept, code:Sequence_source;
|
883
|
+
skos:topConceptOf code:sequence_source ;
|
884
|
+
skos:prefLabel "SELEX" ;
|
885
|
+
skos:inScheme code:sequence_source .
|
886
|
+
|
887
|
+
<code/sequence_source/RIP-Seq> a skos:Concept, code:Sequence_source;
|
888
|
+
skos:topConceptOf code:sequence_source ;
|
889
|
+
skos:prefLabel "RIP-Seq" ;
|
890
|
+
skos:inScheme code:sequence_source .
|
891
|
+
|
892
|
+
<code/sequence_source/ChIA-PET> a skos:Concept, code:Sequence_source;
|
893
|
+
skos:topConceptOf code:sequence_source ;
|
894
|
+
skos:prefLabel "ChIA-PET" ;
|
895
|
+
skos:inScheme code:sequence_source .
|
896
|
+
|
897
|
+
<code/sequencer/Illumina_GAIIx> a skos:Concept, code:Sequencer;
|
898
|
+
skos:topConceptOf code:sequencer ;
|
899
|
+
skos:prefLabel "Illumina_GAIIx" ;
|
900
|
+
skos:inScheme code:sequencer .
|
901
|
+
|
902
|
+
<code/sequencer/Illumina_HiSeq> a skos:Concept, code:Sequencer;
|
903
|
+
skos:topConceptOf code:sequencer ;
|
904
|
+
skos:prefLabel "Illumina_HiSeq" ;
|
905
|
+
skos:inScheme code:sequencer .
|
906
|
+
|
907
|
+
<code/sequencer/SOLID> a skos:Concept, code:Sequencer;
|
908
|
+
skos:topConceptOf code:sequencer ;
|
909
|
+
skos:prefLabel "SOLID" ;
|
910
|
+
skos:inScheme code:sequencer .
|
911
|
+
|
912
|
+
<code/sequencer/454> a skos:Concept, code:Sequencer;
|
913
|
+
skos:topConceptOf code:sequencer ;
|
914
|
+
skos:prefLabel "454" ;
|
915
|
+
skos:inScheme code:sequencer .
|
916
|
+
|
917
|
+
<code/sequencer/ABI_3730xl> a skos:Concept, code:Sequencer;
|
918
|
+
skos:topConceptOf code:sequencer ;
|
919
|
+
skos:prefLabel "ABI_3730xl" ;
|
920
|
+
skos:inScheme code:sequencer .
|
921
|
+
|
922
|
+
<code/sequencer/Ion_Torrent_PGM> a skos:Concept, code:Sequencer;
|
923
|
+
skos:topConceptOf code:sequencer ;
|
924
|
+
skos:prefLabel "Ion_Torrent_PGM" ;
|
925
|
+
skos:inScheme code:sequencer .
|
926
|
+
|
927
|
+
<code/sequencer/Ion_Torrent_Proton> a skos:Concept, code:Sequencer;
|
928
|
+
skos:topConceptOf code:sequencer ;
|
929
|
+
skos:prefLabel "Ion_Torrent_Proton" ;
|
930
|
+
skos:inScheme code:sequencer .
|
931
|
+
|
932
|
+
<code/sequencer/PacBio_RS> a skos:Concept, code:Sequencer;
|
933
|
+
skos:topConceptOf code:sequencer ;
|
934
|
+
skos:prefLabel "PacBio_RS" ;
|
935
|
+
skos:inScheme code:sequencer .
|
936
|
+
|
937
|
+
<code/sequencer/Illumina_MiSeq> a skos:Concept, code:Sequencer;
|
938
|
+
skos:topConceptOf code:sequencer ;
|
939
|
+
skos:prefLabel "Illumina_MiSeq" ;
|
940
|
+
skos:inScheme code:sequencer .
|
941
|
+
|
942
|
+
<code/sequencer/Illumina_HiSeq_2500> a skos:Concept, code:Sequencer;
|
943
|
+
skos:topConceptOf code:sequencer ;
|
944
|
+
skos:prefLabel "Illumina_HiSeq_2500" ;
|
945
|
+
skos:inScheme code:sequencer .
|
946
|
+
|
947
|
+
<code/sequencer/454_GS_FLX_Titanium> a skos:Concept, code:Sequencer;
|
948
|
+
skos:topConceptOf code:sequencer ;
|
949
|
+
skos:prefLabel "454_GS_FLX_Titanium" ;
|
950
|
+
skos:inScheme code:sequencer .
|
951
|
+
|
952
|
+
<code/sequencer/AB_SOLiD_4_System> a skos:Concept, code:Sequencer;
|
953
|
+
skos:topConceptOf code:sequencer ;
|
954
|
+
skos:prefLabel "AB_SOLiD_4_System" ;
|
955
|
+
skos:inScheme code:sequencer .
|
956
|
+
|
957
|
+
ns:obs2 a qb:Observation ;
|
958
|
+
qb:dataSet ns:dataset-maf_example ;
|
959
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
960
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
961
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
962
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
963
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
964
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
965
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
966
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
967
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1BG> ;
|
968
|
+
prop:Center "genome.wustl.edu" ;
|
969
|
+
prop:NCBI_Build 37 ;
|
970
|
+
prop:Chromosome 19 ;
|
971
|
+
prop:Start_Position 58862784 ;
|
972
|
+
prop:End_Position 58862784 ;
|
973
|
+
prop:Strand "+" ;
|
974
|
+
prop:Reference_Allele "C" ;
|
975
|
+
prop:Tumor_Seq_Allele1 "C" ;
|
976
|
+
prop:Tumor_Seq_Allele2 "T" ;
|
977
|
+
prop:dbSNP_RS "novel" ;
|
978
|
+
prop:Tumor_Sample_Barcode "TCGA-E9-A22B-01A-11D-A159-09" ;
|
979
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E9-A22B-10A-01D-A159-09" ;
|
980
|
+
prop:Match_Norm_Seq_Allele1 "C" ;
|
981
|
+
prop:Match_Norm_Seq_Allele2 "C" ;
|
982
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
983
|
+
prop:Validation_Method "none" ;
|
984
|
+
prop:Score 1 ;
|
985
|
+
prop:BAM_File "dbGAP" ;
|
986
|
+
prop:Tumor_Sample_UUID "e46a5d19-2dd7-4c34-8fff-6276278c58b3" ;
|
987
|
+
prop:Matched_Norm_Sample_UUID "f948182a-f814-4e3c-83ee-82b78aa423c1" ;
|
988
|
+
prop:patient_id "E9-A22B" ;
|
989
|
+
prop:sample_id "01A-11D-A159-09" ;
|
990
|
+
.
|
991
|
+
|
992
|
+
ns:obs3 a qb:Observation ;
|
993
|
+
qb:dataSet ns:dataset-maf_example ;
|
994
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
995
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
996
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/byFrequency> ;
|
997
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
998
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
999
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
1000
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
1001
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
1002
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1BG> ;
|
1003
|
+
prop:Center "genome.wustl.edu" ;
|
1004
|
+
prop:NCBI_Build 37 ;
|
1005
|
+
prop:Chromosome 19 ;
|
1006
|
+
prop:Start_Position 58864366 ;
|
1007
|
+
prop:End_Position 58864366 ;
|
1008
|
+
prop:Strand "+" ;
|
1009
|
+
prop:Reference_Allele "G" ;
|
1010
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
1011
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
1012
|
+
prop:dbSNP_RS <http://identifiers.org/dbsnp/151098196> ;
|
1013
|
+
prop:Tumor_Sample_Barcode "TCGA-E9-A1NH-01A-11D-A14G-09" ;
|
1014
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E9-A1NH-11A-33D-A14G-09" ;
|
1015
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
1016
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
1017
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
1018
|
+
prop:Validation_Method "none" ;
|
1019
|
+
prop:Score 1 ;
|
1020
|
+
prop:BAM_File "dbGAP" ;
|
1021
|
+
prop:Tumor_Sample_UUID "13c312ec-0add-4758-ab8d-c193e2e08c6d" ;
|
1022
|
+
prop:Matched_Norm_Sample_UUID "0ee95056-a7cc-415c-a487-3ad08604dfc0" ;
|
1023
|
+
prop:patient_id "E9-A1NH" ;
|
1024
|
+
prop:sample_id "01A-11D-A14G-09" ;
|
1025
|
+
.
|
1026
|
+
|
1027
|
+
ns:obs4 a qb:Observation ;
|
1028
|
+
qb:dataSet ns:dataset-maf_example ;
|
1029
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
1030
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
1031
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
1032
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
1033
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
1034
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
1035
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
1036
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
1037
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1CF> ;
|
1038
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/29974> ;
|
1039
|
+
prop:Center "genome.wustl.edu" ;
|
1040
|
+
prop:NCBI_Build 37 ;
|
1041
|
+
prop:Chromosome 10 ;
|
1042
|
+
prop:Start_Position 52595854 ;
|
1043
|
+
prop:End_Position 52595854 ;
|
1044
|
+
prop:Strand "+" ;
|
1045
|
+
prop:Reference_Allele "G" ;
|
1046
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
1047
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
1048
|
+
prop:dbSNP_RS "novel" ;
|
1049
|
+
prop:Tumor_Sample_Barcode "TCGA-BH-A0HP-01A-12D-A099-09" ;
|
1050
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-BH-A0HP-10A-01D-A099-09" ;
|
1051
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
1052
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
1053
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
1054
|
+
prop:Validation_Method "none" ;
|
1055
|
+
prop:Score 1 ;
|
1056
|
+
prop:BAM_File "dbGAP" ;
|
1057
|
+
prop:Tumor_Sample_UUID "ad52a8fb-7a76-4aa0-95fb-d6edab0fe2b2" ;
|
1058
|
+
prop:Matched_Norm_Sample_UUID "8c059d33-23de-439a-914a-290527c5efbe" ;
|
1059
|
+
prop:patient_id "BH-A0HP" ;
|
1060
|
+
prop:sample_id "01A-12D-A099-09" ;
|
1061
|
+
.
|
1062
|
+
|
1063
|
+
ns:obs5 a qb:Observation ;
|
1064
|
+
qb:dataSet ns:dataset-maf_example ;
|
1065
|
+
prop:Variant_Classification <code/variant_classification/Silent> ;
|
1066
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
1067
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
1068
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
1069
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
1070
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
1071
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
1072
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
1073
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A1CF> ;
|
1074
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/29974> ;
|
1075
|
+
prop:Center "genome.wustl.edu" ;
|
1076
|
+
prop:NCBI_Build 37 ;
|
1077
|
+
prop:Chromosome 10 ;
|
1078
|
+
prop:Start_Position 52595937 ;
|
1079
|
+
prop:End_Position 52595937 ;
|
1080
|
+
prop:Strand "+" ;
|
1081
|
+
prop:Reference_Allele "G" ;
|
1082
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
1083
|
+
prop:Tumor_Seq_Allele2 "A" ;
|
1084
|
+
prop:dbSNP_RS "novel" ;
|
1085
|
+
prop:Tumor_Sample_Barcode "TCGA-BH-A18P-01A-11D-A12B-09" ;
|
1086
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-BH-A18P-11A-43D-A12B-09" ;
|
1087
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
1088
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
1089
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
1090
|
+
prop:Validation_Method "none" ;
|
1091
|
+
prop:Score 1 ;
|
1092
|
+
prop:BAM_File "dbGAP" ;
|
1093
|
+
prop:Tumor_Sample_UUID "add624a3-57e9-46be-9bcc-3e53d7c2dfb7" ;
|
1094
|
+
prop:Matched_Norm_Sample_UUID "5cae8dca-b28a-4483-9c03-6f0645161c04" ;
|
1095
|
+
prop:patient_id "BH-A18P" ;
|
1096
|
+
prop:sample_id "01A-11D-A12B-09" ;
|
1097
|
+
.
|
1098
|
+
|
1099
|
+
ns:obs6 a qb:Observation ;
|
1100
|
+
qb:dataSet ns:dataset-maf_example ;
|
1101
|
+
prop:Variant_Classification <code/variant_classification/Silent> ;
|
1102
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
1103
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
1104
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
1105
|
+
prop:Validation_Status <code/validation_status/Untested> ;
|
1106
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
1107
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
1108
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
1109
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A2BP1> ;
|
1110
|
+
prop:Center "genome.wustl.edu" ;
|
1111
|
+
prop:NCBI_Build 37 ;
|
1112
|
+
prop:Chromosome 16 ;
|
1113
|
+
prop:Start_Position 7568361 ;
|
1114
|
+
prop:End_Position 7568361 ;
|
1115
|
+
prop:Strand "+" ;
|
1116
|
+
prop:Reference_Allele "G" ;
|
1117
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
1118
|
+
prop:Tumor_Seq_Allele2 "C" ;
|
1119
|
+
prop:dbSNP_RS "novel" ;
|
1120
|
+
prop:Tumor_Sample_Barcode "TCGA-D8-A1JN-01A-11D-A13L-09" ;
|
1121
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-D8-A1JN-10A-01D-A13O-09" ;
|
1122
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
1123
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
1124
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
1125
|
+
prop:Validation_Method "none" ;
|
1126
|
+
prop:Score 1 ;
|
1127
|
+
prop:BAM_File "dbGAP" ;
|
1128
|
+
prop:Tumor_Sample_UUID "c83c7d48-8671-4f27-b3dd-05411fa2f784" ;
|
1129
|
+
prop:Matched_Norm_Sample_UUID "c14cac2a-e308-44fa-b1af-ee51511ee0ee" ;
|
1130
|
+
prop:patient_id "D8-A1JN" ;
|
1131
|
+
prop:sample_id "01A-11D-A13L-09" ;
|
1132
|
+
.
|
1133
|
+
|
1134
|
+
ns:obs7 a qb:Observation ;
|
1135
|
+
qb:dataSet ns:dataset-maf_example ;
|
1136
|
+
prop:Variant_Classification <code/variant_classification/Missense_Mutation> ;
|
1137
|
+
prop:Variant_Type <code/variant_type/SNP> ;
|
1138
|
+
prop:dbSNP_Val_Status <code/dbsnp_val_status/> ;
|
1139
|
+
prop:Verification_Status <code/verification_status/Unknown> ;
|
1140
|
+
prop:Validation_Status <code/validation_status/Valid> ;
|
1141
|
+
prop:Mutation_Status <code/mutation_status/Somatic> ;
|
1142
|
+
prop:Sequence_Source <code/sequence_source/WXS> ;
|
1143
|
+
prop:Sequencer <code/sequencer/Illumina_GAIIx> ;
|
1144
|
+
prop:Hugo_Symbol <http://identifiers.org/hgnc.symbol/A2BP1> ;
|
1145
|
+
prop:Entrez_Gene_Id <http://identifiers.org/ncbigene/54715> ;
|
1146
|
+
prop:Center "genome.wustl.edu" ;
|
1147
|
+
prop:NCBI_Build 37 ;
|
1148
|
+
prop:Chromosome 16 ;
|
1149
|
+
prop:Start_Position 7102099 ;
|
1150
|
+
prop:End_Position 7102099 ;
|
1151
|
+
prop:Strand "+" ;
|
1152
|
+
prop:Reference_Allele "G" ;
|
1153
|
+
prop:Tumor_Seq_Allele1 "G" ;
|
1154
|
+
prop:Tumor_Seq_Allele2 "T" ;
|
1155
|
+
prop:dbSNP_RS "novel" ;
|
1156
|
+
prop:Tumor_Sample_Barcode "TCGA-E2-A1BC-01A-11D-A14G-09" ;
|
1157
|
+
prop:Matched_Norm_Sample_Barcode "TCGA-E2-A1BC-10A-01D-A12Q-09" ;
|
1158
|
+
prop:Match_Norm_Seq_Allele1 "G" ;
|
1159
|
+
prop:Match_Norm_Seq_Allele2 "G" ;
|
1160
|
+
prop:Tumor_Validation_Allele1 "G" ;
|
1161
|
+
prop:Tumor_Validation_Allele2 "T" ;
|
1162
|
+
prop:Match_Norm_Validation_Allele1 "G" ;
|
1163
|
+
prop:Match_Norm_Validation_Allele2 "G" ;
|
1164
|
+
prop:Sequencing_Phase "Phase_IV" ;
|
1165
|
+
prop:Validation_Method "Illumina_WXS_gDNA" ;
|
1166
|
+
prop:Score 1 ;
|
1167
|
+
prop:BAM_File "dbGAP" ;
|
1168
|
+
prop:Tumor_Sample_UUID "5947a9db-7d13-44ff-86ad-eb5e6c8dcec5" ;
|
1169
|
+
prop:Matched_Norm_Sample_UUID "6a4cd52f-2247-4caf-9b37-e90b02fd4d8b" ;
|
1170
|
+
prop:patient_id "E2-A1BC" ;
|
1171
|
+
prop:sample_id "01A-11D-A14G-09" ;
|
1172
|
+
.
|
1173
|
+
|