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 WDR65 149465 broad.mit.edu 37 1 43651007 43651007 + Missense_Mutation SNP C C A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr1:43651007C>A uc021omk.1 + 4 1095 c.949C>A c.(949-951)Cgt>Agt p.R317S EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R306S|WDR65_uc001ciq.2_Missense_Mutation_p.R317S|WDR65_uc001cip.2_Missense_Mutation_p.R317S NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 317 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGATTTTTACCGTGAGAGCAG 0.473 OR4F6 390648 broad.mit.edu 37 15 102346736 102346736 + Missense_Mutation SNP G G A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr15:102346736G>A uc010utr.2 + 0 814 c.814G>A c.(814-816)Gcc>Acc p.A272T NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TAAATTCCTTGCCATCTTTGA 0.378 TANC2 26115 broad.mit.edu 37 17 61391934 61391934 + Missense_Mutation SNP G G A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr17:61391934G>A uc002jal.4 + 7 1146 c.1123G>A c.(1123-1125)Ggc>Agc p.G375S TANC2_uc010wpe.2_Missense_Mutation_p.G285S NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 375 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CATTGGATTCGGCAAAACTGC 0.507 EXOC7 23265 broad.mit.edu 37 17 74094004 74094004 + Missense_Mutation SNP C C A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr17:74094004C>A uc002jqs.3 - 4 608 c.513G>T c.(511-513)ttG>ttT p.L171F EXOC7_uc010dgv.2_Missense_Mutation_p.L118F|EXOC7_uc010wsv.2_Missense_Mutation_p.L130F|EXOC7_uc010wsw.2_Missense_Mutation_p.L171F|EXOC7_uc002jqq.3_Missense_Mutation_p.L171F|EXOC7_uc010wsx.2_Missense_Mutation_p.L171F|EXOC7_uc002jqr.3_Missense_Mutation_p.L171F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA. 171 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) TGATCAGATCCAAGATGAGCA 0.602 PCDHB3 56132 broad.mit.edu 37 5 140480851 140480851 + Silent SNP G G A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr5:140480851G>A uc003lio.3 + 0 618 c.618G>A c.(616-618)ccG>ccA p.P206P BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 206 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.Q205Q(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGCAGCCGGAACTCAGCT 0.567 DIAPH1 1729 broad.mit.edu 37 5 140960406 140960406 + Silent SNP C C A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr5:140960406C>A uc003llb.4 - 7 870 c.729G>T c.(727-729)ctG>ctT p.L243L DIAPH1_uc003llc.4_Silent_p.L234L|DIAPH1_uc021yep.1_Silent_p.L243L|DIAPH1_uc021yeq.1_Silent_p.L234L NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 243 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGACCAGCAGTAGGATTC 0.473 PRSS55 203074 broad.mit.edu 37 8 10387101 10387101 + Missense_Mutation SNP C C T TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr8:10387101C>T uc003wta.3 + 1 279 c.239C>T c.(238-240)cCg>cTg p.P80L AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.P80L|PRSS55_uc003wtb.3_Non-coding_Transcript NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 80 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GGTGAGTTTCCGTGGCAGGTG 0.512 CYP7A1 1581 broad.mit.edu 37 8 59409488 59409488 + Missense_Mutation SNP G G A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr8:59409488G>A uc003xtm.4 - 2 646 c.583C>T c.(583-585)Cgg>Tgg p.R195W NM_000780 NP_000771 P22680 CP7A1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA. 195 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding p.R195L(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TGTGTGTCCCGCCTTGTAAGA 0.453 Neonatal Giant Cell Hepatitis PSAT1 29968 broad.mit.edu 37 9 80921319 80921319 + Missense_Mutation SNP G G A TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr9:80921319G>A uc004ala.3 + 4 555 c.487G>A c.(487-489)Gac>Aac p.D163N PSAT1_uc004alb.3_Missense_Mutation_p.D163N NM_058179 NP_478059 Q9Y617 SERC_HUMAN Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA. 163 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGTGGAGTTTGACTTTATACC 0.463 PSAT1 29968 broad.mit.edu 37 9 80921343 80921343 + Missense_Mutation SNP G G A rs115263053 by1000genomes TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr9:80921343G>A uc004ala.3 + 4 579 c.511G>A c.(511-513)Gca>Aca p.A171T PSAT1_uc004alb.3_Missense_Mutation_p.A171T NM_058179 NP_478059 Q9Y617 SERC_HUMAN Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA. 171 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.G170*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) TGTCAAGGGAGCAGTACTGGT 0.498 TUBBP5 643224 broad.mit.edu 37 9 141070969 141070969 + Silent SNP A A G TCGA-06-0139-01A-01D-1490-08 TCGA-06-0139-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx c84ff17d-436d-49c1-aef2-b998ffe4a693 c739fdc7-b0df-4096-a7dd-50f519c9160f g.chr9:141070969A>G uc010ncq.3 + 4 Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. p.A196A(1) TAGAAAACGCAGATGAGACCT 0.517