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 CSMD2 114784 broad.mit.edu 37 1 34190211 34190211 + Silent SNP G G A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr1:34190211G>A uc001bxm.1 - 17 2967 c.2790C>T c.(2788-2790)acC>acT p.T930T CSMD2_uc001bxn.1_Silent_p.T890T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 890 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACAGCTGAAGGTCACCAGCG 0.562000 5 66 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97051492 97051492 + Missense_Mutation SNP G G C TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr6:97051492G>C uc003pos.2 + 2 419 c.3G>C c.(1-3)atG>atC p.M1I FHL5_uc003pot.2_Missense_Mutation_p.M1I NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 1 nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AAACCAAAATGACAACTGCTC 0.318000 4 73 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98853095 98853095 + Missense_Mutation SNP C C A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:98853095C>A uc002syo.3 + 18 2839 c.2575C>A c.(2575-2577)Ctc>Atc p.L859I VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.L378I|VWA3B_uc002sym.3_Missense_Mutation_p.L859I|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.L516I|VWA3B_uc002syp.1_Missense_Mutation_p.L251I|VWA3B_uc002syq.1_Missense_Mutation_p.L135I|VWA3B_uc002syr.1_Missense_Mutation_p.L176I|VWA3B_uc010fih.1_Non-coding_Transcript NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 859 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CGCCAAGAAACTCACCCTCAT 0.478000 8 93 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109382494 109382494 + Silent SNP T T G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:109382494T>G uc002tem.4 + 19 5625 c.5499T>G c.(5497-5499)tcT>tcG p.S1833S NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 1833 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATGACTCTTCTGGAAGTCAGG 0.413000 29 65 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62592689 62592689 + Silent SNP T T C TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr20:62592689T>C uc002yhl.1 - 15 2454 c.2400A>G c.(2398-2400)aaA>aaG p.K800K NM_020713 NP_065764 Q96KM6 Z512B_HUMAN Homo sapiens zinc finger protein 512B (ZNF512B), mRNA. 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GGATGTGGTATTTGACGCCAC 0.647000 3 56 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 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 23 41 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5253769 5253769 + Nonsense_Mutation SNP C C T TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr17:5253769C>T uc002gbm.4 + 6 1032 c.808C>T c.(808-810)Cga>Tga p.R270* RABEP1_uc010clc.1_Nonsense_Mutation_p.R263*|RABEP1_uc010cld.1_Nonsense_Mutation_p.R227*|RABEP1_uc010vsw.1_Nonsense_Mutation_p.R227*|RABEP1_uc002gbl.4_Nonsense_Mutation_p.R270* NM_004703 NP_004694 Q15276 RABE1_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA. 270 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome GTPase activator activity|growth factor activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGAGCAAGAGCGACAACAACA 0.418000 8 85 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455272 179455272 + Missense_Mutation SNP T T G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr2:179455272T>G uc021vsy.1 - 252 53701 c.53476A>C c.(53476-53478)Aag>Cag p.K17826Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K11521Q|TTN_uc021vta.1_Missense_Mutation_p.K11454Q|TTN_uc021vtb.1_Missense_Mutation_p.K11329Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18753 Ig-like 104. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAGAGGCTTTGTCCACACC 0.443000 54 94 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103557044 103557044 + Missense_Mutation SNP G G A TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr4:103557044G>A uc003hwg.3 - 14 2235 c.2135C>T c.(2134-2136)tCg>tTg p.S712L MANBA_uc011ces.2_Missense_Mutation_p.S655L NM_005908 NP_005899 O00462 MANBA_HUMAN Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA. 712 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CGAATAATCCGAGTGAAGATC 0.363000 4 69 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10397153 10397153 + Missense_Mutation SNP A A G TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr1:10397153A>G uc001aqz.3 + 28 3230 c.3151A>G c.(3151-3153)Atg>Gtg p.M1051V KIF1B_uc001aqw.4_Missense_Mutation_p.M1005V|KIF1B_uc001aqx.4_Missense_Mutation_p.M1051V|KIF1B_uc001aqy.3_Missense_Mutation_p.M1025V|KIF1B_uc001ara.3_Missense_Mutation_p.M1011V|KIF1B_uc001arb.3_Missense_Mutation_p.M1037V NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 1051 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GTCTGTTGCAATGACTCGTTC 0.428000 53 120 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569769 99569769 + Missense_Mutation SNP C C T TCGA-ET-A25K-01A-11D-A16O-08 TCGA-ET-A25K-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207 030113e6-9473-4c38-8aaa-a0e3bd28c248 g.chr3:99569769C>T uc003dtm.3 - 4 1214 c.751G>A c.(751-753)Gca>Aca p.A251T MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.A251T|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.A11T|FILIP1L_uc003dtn.3_Missense_Mutation_p.A11T|FILIP1L_uc021xbr.1_Missense_Mutation_p.A11T|FILIP1L_uc003dtp.1_Missense_Mutation_p.A11T NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 251 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTGAGCTGTGCCGTCAGCCTT 0.488000 4 144 0 0 1 0 0