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 RTF1 23168 broad.mit.edu 37 15 41763442 41763442 + Silent SNP G G A TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr15:41763442G>A uc001zny.3 + 7 1110 c.1098G>A c.(1096-1098)cgG>cgA p.R366R NM_015138 NP_055953 Q92541 RTF1_HUMAN Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA. 366 Plus3. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding p.R241R(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GATTATCACGGCATAAGCTAG 0.458 MRPL10 124995 broad.mit.edu 37 17 45905957 45905957 + Silent SNP C C T TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr17:45905957C>T uc002ily.3 - 2 260 c.162G>A c.(160-162)cgG>cgA p.R54R MRPL10_uc002ilz.3_Silent_p.R44R|MRPL10_uc010wky.2_Silent_p.R5R NM_148887 NP_683685 Q7Z7H8 RM10_HUMAN Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 44 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 TCAGCTTCTGCCGCTGAAAGT 0.597 ITGB2 3689 broad.mit.edu 37 21 46326937 46326937 + Missense_Mutation SNP G G A TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr21:46326937G>A uc002zgd.2 - 2 265 c.221C>T c.(220-222)gCg>gTg p.A74V ITGB2_uc002zgf.3_Missense_Mutation_p.A74V|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.A74V|ITGB2_uc002zgg.2_Missense_Mutation_p.A74V NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 74 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GTCGTCAGCCGCACAGCCCCT 0.617 NPNT 255743 broad.mit.edu 37 4 106888371 106888371 + Missense_Mutation SNP G G A rs146652028 TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr4:106888371G>A uc011cfd.2 + 11 1675 c.1462G>A c.(1462-1464)Gcc>Acc p.A488T NPNT_uc011cfc.2_Missense_Mutation_p.A475T|NPNT_uc011cfe.2_Missense_Mutation_p.A459T|NPNT_uc003hya.3_Missense_Mutation_p.A458T|NPNT_uc011cff.2_Missense_Mutation_p.A429T NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 458 MAM. cell differentiation membrane calcium ion binding p.A458T(1) kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AGTGTCGGCAGCCAAAGCCCC 0.552 SEC24B 10427 broad.mit.edu 37 4 110437770 110437770 + Silent SNP C C T TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr4:110437770C>T uc003hzk.3 + 10 2155 c.2100C>T c.(2098-2100)tgC>tgT p.C700C SEC24B_uc003hzl.3_Silent_p.C665C|SEC24B_uc011cfp.2_Silent_p.C730C|SEC24B_uc011cfq.2_Silent_p.C699C|SEC24B_uc011cfr.2_Silent_p.C664C NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 700 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAATTTTGTGCCAGTCACTCC 0.318 C6orf203 51250 broad.mit.edu 37 6 107372330 107372330 + Missense_Mutation SNP C C T TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chr6:107372330C>T uc011eaj.2 + 4 1303 c.628C>T c.(628-630)Cgg>Tgg p.R210W C6orf203_uc003prq.3_Missense_Mutation_p.R205W|C6orf203_uc010kde.3_Missense_Mutation_p.R205W NM_001142470 NP_057571 Q9P0P8 CF203_HUMAN Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA. 205 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) GACAGTTATGCGGATTCTCTT 0.383 MSL3 10943 broad.mit.edu 37 X 11790350 11790350 + Missense_Mutation SNP G G A rs140880282 TCGA-06-0167-01A-01D-1491-08 TCGA-06-0167-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx d530c696-235d-4a41-944d-e7f7ae21aa17 74292da7-2a53-455d-8d33-438db411fa67 g.chrX:11790350G>A uc004cuw.3 + 10 1462 c.1357G>A c.(1357-1359)Gca>Aca p.A453T MSL3_uc011mig.2_Missense_Mutation_p.A304T|MSL3_uc011mih.2_Missense_Mutation_p.A441T|MSL3_uc004cuy.3_Missense_Mutation_p.A287T NM_078629 NP_006791 Q8N5Y2 MS3L1_HUMAN Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA. 453 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 CATTTATGGGGCACAACATTT 0.463