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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RBP3 5949 broad.mit.edu 37 10 48390034 48390034 + Missense_Mutation SNP C C T TCGA-BJ-A45E-01A-11D-A23U-08 TCGA-BJ-A45E-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b22bf924-6c87-4ccc-ac51-bcd914c39163 c181d15b-c8ae-4d11-b57f-8de22eb27f81 g.chr10:48390034C>T uc001jez.3 - 0 958 c.844G>A c.(844-846)Gtg>Atg p.V282M NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 282 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GACCTGGACACGGGCACCGTG 0.697000 4 46 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586181 53586181 + Silent SNP C C T TCGA-BJ-A45E-01A-11D-A23U-08 TCGA-BJ-A45E-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b22bf924-6c87-4ccc-ac51-bcd914c39163 c181d15b-c8ae-4d11-b57f-8de22eb27f81 g.chr12:53586181C>T uc009zmv.3 - 12 2159 c.2088G>A c.(2086-2088)caG>caA p.Q696Q ITGB7_uc001scc.3_Silent_p.Q696Q|ITGB7_uc010snz.2_Non-coding_Transcript NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 696 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAAGAACAGCTGGTTGTCCA 0.567000 13 81 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390034 48390034 + Missense_Mutation SNP C C T TCGA-BJ-A45E-01A-11D-A23U-08 TCGA-BJ-A45E-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b22bf924-6c87-4ccc-ac51-bcd914c39163 d6d2a21b-6095-4ec9-8254-e5d2564aad50 g.chr10:48390034C>T uc001jez.3 - 0 958 c.844G>A c.(844-846)Gtg>Atg p.V282M NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 282 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GACCTGGACACGGGCACCGTG 0.697000 4 46 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67579177 67579177 + Missense_Mutation SNP G G A TCGA-BJ-A45E-01A-11D-A23U-08 TCGA-BJ-A45E-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b22bf924-6c87-4ccc-ac51-bcd914c39163 d6d2a21b-6095-4ec9-8254-e5d2564aad50 g.chr8:67579177G>A uc003xwn.3 - 0 276 c.17C>T c.(16-18)cCg>cTg p.P6L SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA. 6 Pro-rich. protein ubiquitination Golgi stack|endoplasmic reticulum ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) aggcggcggcggcggcggcTG 0.697000 12 17 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586181 53586181 + Silent SNP C C T TCGA-BJ-A45E-01A-11D-A23U-08 TCGA-BJ-A45E-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b22bf924-6c87-4ccc-ac51-bcd914c39163 d6d2a21b-6095-4ec9-8254-e5d2564aad50 g.chr12:53586181C>T uc009zmv.3 - 12 2159 c.2088G>A c.(2086-2088)caG>caA p.Q696Q ITGB7_uc001scc.3_Silent_p.Q696Q|ITGB7_uc010snz.2_Non-coding_Transcript NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 696 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAAGAACAGCTGGTTGTCCA 0.567000 13 81 0 0 1 0 0