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 ZNF646 9726 broad.mit.edu 37 16 31092931 31092931 + Silent SNP C C T TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr16:31092931C>T uc002eap.3 + 1 5575 c.5286C>T c.(5284-5286)acC>acT p.T1762T ZNF646_uc021tgu.1_Silent_p.T1762T NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 1762 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GGCCTTTCACCTGCCCCCATT 0.701000 7 25 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396186 101396186 + Missense_Mutation SNP C C T TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chrX:101396186C>T uc004eiq.3 - 2 279 c.118G>A c.(118-120)Ggg>Agg p.G40R TCEAL6_uc022cas.1_Missense_Mutation_p.G40R NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA. 40 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 tctgtcttcccctccgcgtct 0.507000 26 42 0 0 1 0 0 C10orf81 79949 broad.mit.edu 37 10 115540477 115540477 + Silent SNP G G A TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr10:115540477G>A uc009xyc.2 + 12 1729 c.1038G>A c.(1036-1038)ctG>ctA p.L346L C10orf81_uc001lar.2_3'UTR|C10orf81_uc001las.2_Silent_p.L346L|C10orf81_uc001lau.2_Silent_p.L262L|MIR4483_uc021pys.1_5'Flank|C10orf81_uc001lav.3_5'Flank NM_001193434 NP_001180364 Q5SXH7 CJ081_HUMAN Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 2, mRNA. 442 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2) 15 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) AGCCTAGACTGAACAGAGCTC 0.532000 3 14 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765449 50765449 + Missense_Mutation SNP C C A TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr2:50765449C>A uc021vhg.1 - 9 3126 c.2205G>T c.(2203-2205)tgG>tgT p.W735C NRXN1_uc002rxb.4_Missense_Mutation_p.W367C|NRXN1_uc021vhh.1_Missense_Mutation_p.W695C|NRXN1_uc021vhi.1_Missense_Mutation_p.W731C|NRXN1_uc021vhj.1_Missense_Mutation_p.W691C|NRXN1_uc002rxc.1_Non-coding_Transcript NM_001135659 NP_001129131 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA. 695 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATATCTGTTCCACCCATCCC 0.488000 9 197 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 375466 375466 + Silent SNP G G T TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr10:375466G>T uc001ifp.3 - 29 3750 c.3660C>A c.(3658-3660)gcC>gcA p.A1220A NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 1220 nucleus catalytic activity|transcription factor binding p.A1220A(2) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ACTGACTCACGGCAAGAAGCC 0.562000 9 20 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133821786 133821786 + Missense_Mutation SNP A A T TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr7:133821786A>T uc003vrm.1 + 1 324 c.308A>T c.(307-309)gAt>gTt p.D103V NM_144648 NP_653249 Q96M69 LRGUK_HUMAN Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA. 103 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GAGGAATTTGATGGGGTCCTG 0.428000 9 16 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22517165 22517165 + Silent SNP G G A TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr4:22517165G>A uc003gqm.1 - 0 508 c.243C>T c.(241-243)aaC>aaT p.N81N GPR125_uc003gqo.3_Silent_p.N81N NM_145290 NP_660333 Q8IWK6 GP125_HUMAN Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA. 81 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TGACCGTGCGGTTGGGCAGAG 0.687000 4 12 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12645671 12645671 + Silent SNP G G A TCGA-CE-A482-01A-11D-A23U-08 TCGA-CE-A482-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a cd98f940-450f-4fe6-8c45-d6aa526e6494 g.chr3:12645671G>A uc003bxf.4 - 6 1213 c.798C>T c.(796-798)gtC>gtT p.V266V RAF1_uc011aut.2_Silent_p.V51V|RAF1_uc011auu.2_Silent_p.V184V NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 266 Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) GGGTGGTGCTGACCATGTGGA 0.517000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 7 78 0 0 1 0 0