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 CACNA1C 775 broad.mit.edu 37 12 2614030 2614030 + Missense_Mutation SNP A A G TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr12:2614030A>G uc009zdu.1 + 7 1449 c.1136A>G c.(1135-1137)gAc>gGc p.D379G CACNA1C_uc001qkc.2_Missense_Mutation_p.D379G|CACNA1C_uc001qjz.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkd.2_Missense_Mutation_p.D379G|CACNA1C_uc001qke.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkf.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdw.1_Missense_Mutation_p.D379G|CACNA1C_uc001qkg.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkh.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkl.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkp.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkq.2_Missense_Mutation_p.D379G|CACNA1C_uc001qku.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkr.2_Missense_Mutation_p.D379G|CACNA1C_uc001qks.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkt.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdv.1_Missense_Mutation_p.D376G|CACNA1C_uc001qkb.2_Missense_Mutation_p.D379G|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 379 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.N378K(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTAGGAAGGGACTGGCCCTGG 0.512000 10 17 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59761320 59761320 + Silent SNP A A G TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr17:59761320A>G uc002izk.2 - 19 3393 c.3087T>C c.(3085-3087)agT>agC p.S1029S NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 1029 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GACTAGAGGCACTATTCTCTG 0.403000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 4 107 0 0 1 0 0 CHST10 9486 broad.mit.edu 37 2 101009934 101009934 + Missense_Mutation SNP G G A TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr2:101009934G>A uc002tam.3 - 6 1242 c.844C>T c.(844-846)Cac>Tac p.H282Y NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 282 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GTCTCGTGGTGTCCAATCACA 0.522000 21 90 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1570247 1570247 + Missense_Mutation SNP T T C TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr16:1570247T>C uc002cmb.3 - 27 4120 c.3758A>G c.(3757-3759)tAc>tGc p.Y1253C IFT140_uc002clz.3_Missense_Mutation_p.Y866C NM_014714 NP_055529 Q96RY7 IF140_HUMAN Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA. 1253 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GGACTGCAGGTAGTTAGCAGC 0.562000 4 110 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33073397 33073397 + Missense_Mutation SNP T T C TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr21:33073397T>C uc002ypd.2 - 6 1114 c.688A>G c.(688-690)Atc>Gtc p.I230V SCAF4_uc002ype.2_Missense_Mutation_p.I230V|SCAF4_uc010glu.2_Missense_Mutation_p.I215V|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.I230V NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 230 nucleus RNA binding|nucleotide binding p.A229A(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGAGCTGTGATAGCCTGAACC 0.453000 16 52 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393468 154393468 + Missense_Mutation SNP C C T TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr5:154393468C>T uc010jih.1 + 0 209 c.49C>T c.(49-51)Cgc>Tgc p.R17C NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 17 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.R17H(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACTGCGTTGTCGCCCTCTGGT 0.542000 16 59 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101685754 101685754 + Missense_Mutation SNP T T A TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr12:101685754T>A uc001tia.1 + 9 1201 c.1045T>A c.(1045-1047)Tct>Act p.S349T NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 349 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GCAGGTGTTATCTCAAACACT 0.423000 4 157 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23453819 23453819 + Missense_Mutation SNP C C T TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr16:23453819C>T uc002dlo.3 - 3 780 c.583G>A c.(583-585)Gca>Aca p.A195T NM_153603 NP_705831 P83436 COG7_HUMAN Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA. 195 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GAGGTGAATGCCGCTACAATC 0.458000 4 99 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed 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 20 47 0 0 1 0 0 RBM17 84991 broad.mit.edu 37 10 6150700 6150700 + Missense_Mutation SNP A A C TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr10:6150700A>C uc001ijb.3 + 5 783 c.557A>C c.(556-558)aAa>aCa p.K186T RBM17_uc010qav.2_Missense_Mutation_p.K186T NM_032905 NP_116294 Q96I25 SPF45_HUMAN Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA. 186 RNA splicing|mRNA processing spliceosomal complex RNA binding|nucleotide binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 GAGAAAGACAAAGAGTGTAAG 0.488000 OREG0019990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 0 0 1 0 0 C16orf87 388272 broad.mit.edu 37 16 46843651 46843651 + Silent SNP T T C TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr16:46843651T>C uc002eek.1 - 2 223 c.210A>G c.(208-210)agA>agG p.R70R NM_001001436 NP_001001436 Q6PH81 CP087_HUMAN Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA. 70 large_intestine(4)|urinary_tract(1) 5 TTATCTTCTCTCTCCTAACTC 0.388000 3 115 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155491033 155491033 + Missense_Mutation SNP G G C TCGA-FE-A232-01A-11D-A14W-08 TCGA-FE-A232-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b839d2c7-770b-45be-b8b3-27fe9ea02205 207a7d21-80ce-467c-bceb-6e3d95df07ed g.chr1:155491033G>C uc009wqq.3 - 1 758 c.278C>G c.(277-279)gCt>gGt p.A93G ASH1L_uc001fkt.3_Missense_Mutation_p.A93G|ASH1L_uc009wqr.1_Missense_Mutation_p.A93G NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 93 DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGTTCTCTTAGCCTGGAGGCC 0.383000 8 222 0 0 1 0 0