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 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 ENST00000372774.3 - 3 367 c.118G>A c.(118-120)Ggg>Agg p.G40R TCEAL6_ENST00000372773.1_Missense_Mutation_p.G40R NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 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 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 ENST00000251849.4 - 7 1237 c.798C>T c.(796-798)gtC>gtT p.V266V RAF1_ENST00000542177.1_Silent_p.V185V|RAF1_ENST00000534997.1_Silent_p.V51V|RAF1_ENST00000442415.2_Silent_p.V266V NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 266 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|Ras protein signal transduction|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 HERC2P2 0 broad.mit.edu 37 15 23283128 23283128 + RNA 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.chr15:23283128C>T ENST00000560464.1 - 0 5122 ATGAAACCCACGTAGTCGGAC 0.537000 3 11 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 ENST00000404971.1 - 11 3544 c.2205G>T c.(2203-2205)tgG>tgT p.W735C NRXN1_ENST00000406316.2_Missense_Mutation_p.W695C|NRXN1_ENST00000405472.3_Missense_Mutation_p.W687C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W695C|NRXN1_ENST00000402717.3_Missense_Mutation_p.W687C|NRXN1_ENST00000406859.3_Missense_Mutation_p.W695C NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 695 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 3.86212e-05 4.03004e-05 1 1 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 ENST00000285928.2 + 2 377 c.308A>T c.(307-309)gAt>gTt p.D103V LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 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 TBP 6908 broad.mit.edu 37 6 170871094 170871094 + 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.chr6:170871094G>A ENST00000392092.2 + 3 549 c.270G>A c.(268-270)caG>caA p.Q90Q TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 90 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.622000 4 42 0 0 1 0 0 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 ENST00000394979.2 + 1 5709 c.5286C>T c.(5284-5286)acC>acT p.T1762T ZNF646_ENST00000300850.5_Silent_p.T1762T O15015 ZN646_HUMAN zinc finger protein 646 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 PMP22 5376 broad.mit.edu 37 17 15134175 15134175 + Missense_Mutation SNP T T G rs13422 by1000genomes 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.chr17:15134175T>G ENST00000494511.1 - 3 529 c.363A>C c.(361-363)aaA>aaC p.K121N PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000312280.3_3'UTR Q01453 PMP22_HUMAN peripheral myelin protein 22 0 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) CTGCTTTCTGTTTTCCCTTCC 0.498000 3 42 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes 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.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 33 0 0 1 0 0 PLEKHS1 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 ENST00000354462.3 + 6 692 c.534G>A c.(532-534)ctG>ctA p.L178L PLEKHS1_ENST00000369309.1_Silent_p.L262L|PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.L346L pleckstrin homology domain containing, family S member 1 AGCCTAGACTGAACAGAGCTC 0.532000 3 14 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 ENST00000334304.5 - 1 512 c.243C>T c.(241-243)aaC>aaT p.N81N GPR125_ENST00000502482.1_Silent_p.N81N NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 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 SOX8 30812 broad.mit.edu 37 16 1034756 1034756 + 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.chr16:1034756G>A ENST00000293894.3 + 3 826 c.711G>A c.(709-711)caG>caA p.Q237Q NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 237 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) AGCTGCAGCAGGCGGGCGCCA 0.682000 3 11 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 ENST00000280886.6 - 30 3747 c.3660C>A c.(3658-3660)gcC>gcA p.A1220A NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1220 nucleus catalytic activity|transcription factor binding p.A1220A(1) 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 3.86212e-05 4.03004e-05 1 1 0 POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 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.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes 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.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 3 --- --- --- ---