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 STXBP1 6812 broad.mit.edu 37 9 130374691 130374691 + Silent SNP C C G TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:130374691C>G uc004brk.2 + 0 206 c.9C>G c.(7-9)ccC>ccG p.P3P STXBP1_uc004brl.2_Silent_p.P3P NM_003165 NP_003156 P61764 STXB1_HUMAN Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA. 3 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 CCATGGCCCCCATTGGCCTCA 0.741000 2 14 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61077535 61077535 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr18:61077535G>A uc002lix.3 - 2 544 c.284C>T c.(283-285)gCa>gTa p.A95V VPS4B_uc010dpx.3_Missense_Mutation_p.A95V|VPS4B_uc010dpy.3_5'UTR|VPS4B_uc010dpz.1_5'UTR NM_004869 NP_004860 O75351 VPS4B_HUMAN Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA. 95 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 CTTCTCATCTGCTGGACTCGG 0.358000 110 187 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140777318 140777318 + Silent SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:140777318C>T uc004cog.3 + 2 658 c.513C>T c.(511-513)ttC>ttT p.F171F AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Silent_p.F171F NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 171 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCATGGACTTCGTGGTCGTCC 0.607000 25 350 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124034940 124034940 + Missense_Mutation SNP A A G TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr8:124034940A>G uc003ypl.2 - 4 723 c.437T>C c.(436-438)tTt>tCt p.F146S DERL1_uc003ypm.2_Missense_Mutation_p.F146S|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Missense_Mutation_p.F146S NM_024295 NP_077271 Q9BUN8 DERL1_HUMAN Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA. 146 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TCGTGTTCCAAACCAAAATGA 0.413000 OREG0018957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 164 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154033843 154033843 + Missense_Mutation SNP G G C TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr3:154033843G>C uc003ezy.4 - 1 434 c.353C>G c.(352-354)gCt>gGt p.A118G DHX36_uc010hvq.3_Missense_Mutation_p.A118G|DHX36_uc003ezz.4_Missense_Mutation_p.A118G NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 118 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATCCTCAGGAGCAAACCAGGA 0.333000 12 53 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238214 104238214 + Silent SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr9:104238214G>A uc004bbm.3 - 1 1483 c.1161C>T c.(1159-1161)caC>caT p.H387H AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.H387H NM_032342 NP_115718 Q9BRR3 CI125_HUMAN Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA. 387 integral to membrane AGAGCCCGATGTGTTTCACGA 0.527000 24 130 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328468 48328468 + Missense_Mutation SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr11:48328468C>T uc010rhu.2 + 0 694 c.694C>T c.(694-696)Cgt>Tgt p.R232C NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGAGGACCGGCGTAAGGCTGT 0.478000 9 269 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23349552 23349552 + Missense_Mutation SNP T T C TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr20:23349552T>C uc010gdb.3 + 4 1787 c.1613T>C c.(1612-1614)aTt>aCt p.I538T GZF1_uc002wsy.3_Missense_Mutation_p.I538T|GZF1_uc010zsq.2_Missense_Mutation_p.I62T|GZF1_uc010zsr.2_Missense_Mutation_p.I47T|GZF1_uc002wsz.3_Missense_Mutation_p.I538T NM_022482 NP_071927 Q9H116 GZF1_HUMAN Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA. 538 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TACCAGCATATTAAAGTCCAC 0.378000 24 158 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 39 91 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7862663 7862663 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr6:7862663G>A uc003mxu.4 + 3 1314 c.1136G>A c.(1135-1137)cGg>cAg p.R379Q NM_001718 NP_001709 P22004 BMP6_HUMAN Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA. 379 BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GCCTCCAGCCGGCGCCGACAA 0.607000 8 136 0 0 1 0 0 PSAP 5660 broad.mit.edu 37 10 73587777 73587777 + Silent SNP G G A rs141199649 byFrequency TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr10:73587777G>A uc001jsm.3 - 5 818 c.714C>T c.(712-714)gcC>gcT p.A238A NM_002778 NP_002769 P07602 SAP_HUMAN Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA. 238 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TCACTATGTCGGCCATGCCAG 0.572000 6 79 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75884986 75884986 + Silent SNP C C T TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr6:75884986C>T uc021zbv.1 - 11 2513 c.2478G>A c.(2476-2478)acG>acA p.T826T COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.T826T|COL12A1_uc003pht.3_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 826 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TAGTAGACGTCGTAGGGTCAG 0.393000 15 122 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36623751 36623751 + Missense_Mutation SNP G G A TCGA-DJ-A3VE-01A-11D-A23M-08 TCGA-DJ-A3VE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 749bbead-26b4-4262-9bcf-f9c209a45bfb 1178e2e9-37c4-4111-80ac-e57b675025bb g.chr22:36623751G>A uc011amm.2 - 5 1092 c.1049C>T c.(1048-1050)gCg>gTg p.A350V APOL2_uc003aoz.3_Missense_Mutation_p.A238V|APOL2_uc003apa.3_Missense_Mutation_p.A238V NM_145637 NP_663612 Q9BQE5 APOL2_HUMAN Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA. 238 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 TGGGGCATACGCTCCTAACTG 0.542000 100 135 0 0 1 0 0