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 SCAF8 22828 broad.mit.edu 37 6 155145452 155145452 + Missense_Mutation SNP A A G TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr6:155145452A>G uc011efj.2 + 18 2254 c.2209A>G c.(2209-2211)Agt>Ggt p.S737G SCAF8_uc011efk.2_Missense_Mutation_p.S716G|SCAF8_uc003qqa.3_Missense_Mutation_p.S671G|SCAF8_uc003qpz.3_Missense_Mutation_p.S671G|SCAF8_uc010kji.3_Missense_Mutation_p.S692G NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA. 671 Pro-rich. RNA splicing|mRNA processing nuclear matrix|spliceosomal complex RNA binding|RNA polymerase core enzyme binding|nucleotide binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TCCTGGATTCAGTCCAATCCC 0.443000 67 88 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34923115 34923115 + Missense_Mutation SNP G G A TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr5:34923115G>A uc003jja.3 + 6 544 c.520G>A c.(520-522)Gaa>Aaa p.E174K BRIX1_uc011col.1_3'UTR NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA. 174 Brix. ribosome biogenesis|translation nucleolus ATP binding|aminoacyl-tRNA ligase activity|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 GGCTTTTGATGAATTACCACA 0.279000 44 85 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328594 57328594 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr19:57328594C>T uc002qnu.2 - 6 1567 c.1216G>A c.(1216-1218)Gat>Aat p.D406N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 406 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H405H(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTTTTTGATCGTGAATCGAG 0.488000 8 140 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903597 5903597 + Silent SNP T T C TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr20:5903597T>C uc002wmg.3 + 3 1113 c.807T>C c.(805-807)gaT>gaC p.D269D CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 269 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTGAGGAAGATGCCACCTCTG 0.612000 8 18 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 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 38 46 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933105 96933105 + Silent SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr2:96933105C>T uc002svs.3 + 1 391 c.186C>T c.(184-186)cgC>cgT p.R62R TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank NM_004804 NP_004795 O76071 CIAO1_HUMAN Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA. 62 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 GCCACCAGCGCACCGTGCGGA 0.577000 58 112 0 0 1 0 0 TMEM100 55273 broad.mit.edu 37 17 53798052 53798052 + Missense_Mutation SNP G G T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr17:53798052G>T uc002iuj.4 - 1 691 c.380C>A c.(379-381)gCa>gAa p.A127E TMEM100_uc002iuk.4_Missense_Mutation_p.A127E|TMEM100_uc021uai.1_Missense_Mutation_p.A127E NM_018286 NP_060756 Q9NV29 TM100_HUMAN Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA. 127 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 TCTCTGATTTGCCACGAGAGC 0.483000 20 101 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673728 175673728 + Missense_Mutation SNP A A G TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr2:175673728A>G uc002uji.3 - 10 1348 c.1007T>C c.(1006-1008)aTc>aCc p.I336T CHN1_uc010zeq.2_Missense_Mutation_p.I310T|CHN1_uc002ujj.3_Missense_Mutation_p.I111T|CHN1_uc002ujg.3_Missense_Mutation_p.I211T NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 336 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GATAATGTTGATATCTTCATA 0.348000 T TAF15 extraskeletal myxoid chondrosarcoma 21 117 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167051707 167051707 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr3:167051707C>T uc011bpc.2 - 9 932 c.595G>A c.(595-597)Gat>Aat p.D199N ZBBX_uc003feq.3_Missense_Mutation_p.D170N|ZBBX_uc003fep.3_Missense_Mutation_p.D199N NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 199 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGGGTTCATCTGGATTAACA 0.338000 26 31 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118960781 118960781 + Missense_Mutation SNP C C T TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr10:118960781C>T uc010qsr.2 + 1 335 c.335C>T c.(334-336)aCg>aTg p.T112M NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 112 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TTCTGCTGCACGGTGTTCAGC 0.562000 31 61 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37900249 37900250 + Frame_Shift_Del DEL GG GG - TCGA-FE-A236-01A-11D-A16O-08 TCGA-FE-A236-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556023eb-97ef-4dc6-a350-6843eb65b72b 7c4727fb-54fb-4006-9438-8a1564f72634 g.chr22:37900249_37900250delGG uc003asx.1 - 8 1594_1595 c.1577_1578delCC c.(1576-1578)cccfs p.P526fs CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 526 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) AGCCGGCACTGGGGGGGAAGGG 0.644 2 4 --- --- --- ---