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 HTR3B 9177 broad.mit.edu 37 11 113815463 113815463 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:113815463G>A uc001pok.3 + 7 1214 c.1076G>A c.(1075-1077)cGt>cAt p.R359H HTR3B_uc001pol.3_Missense_Mutation_p.R348H NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 359 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) AGGGCCCAACGTGCTGTGGTA 0.532000 29 44 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13251080 13251080 + Silent SNP T T G TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr8:13251080T>G uc003wwm.2 - 3 1740 c.1296A>C c.(1294-1296)ggA>ggC p.G432G DLC1_uc003wwn.3_Silent_p.G432G|DLC1_uc011kxy.2_Silent_p.G432G NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 432 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGGGTTTGGTTCCAGAATTGG 0.413000 47 49 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197239158 197239158 + Missense_Mutation SNP C C A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr3:197239158C>A uc003fxr.3 - 7 1042 c.640G>T c.(640-642)Ggg>Tgg p.G214W BDH1_uc003fxs.3_Missense_Mutation_p.G214W|BDH1_uc003fxu.3_Missense_Mutation_p.G214W NM_203314 NP_976060 Q02338 BDH_HUMAN Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 214 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity p.F213L(1) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GCCTCTACCCCGAACTTGGTG 0.632000 20 36 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725487 140725487 + Silent SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr5:140725487G>A uc003ljm.2 + 0 1887 c.1887G>A c.(1885-1887)gcG>gcA p.A629A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.A629A NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 631 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A629A(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCACGGCGCGAGCCCTGC 0.701000 33 67 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266211 225266211 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr2:225266211G>A uc002vnx.3 - 0 501 c.275C>T c.(274-276)tCg>tTg p.S92L FAM124B_uc002vnw.3_Missense_Mutation_p.S92L NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA. 92 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CTGCCATGGCGAATGCTGGAG 0.582000 13 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 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 21 40 0 0 1 0 0 MED9 55090 broad.mit.edu 37 17 17380300 17380300 + Splice_Site SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr17:17380300G>A uc002grh.1 + 1 1 c.-55_splice c.e1-1 NM_018019 NP_060489 Q9NWA0 MED9_HUMAN Homo sapiens mediator complex subunit 9 (MED9), mRNA. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GTGGTGACGTGTAGAGTGCGC 0.711000 6 34 0 0 1 0 0 C17orf59 54785 broad.mit.edu 37 17 8093098 8093098 + Missense_Mutation SNP A A C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr17:8093098A>C uc010vut.2 - 0 467 c.361T>G c.(361-363)Tcc>Gcc p.S121A NM_017622 NP_060092 Q96GS4 CQ059_HUMAN Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA. 121 large_intestine(2)|lung(3)|urinary_tract(1) 6 CTCCCGGAGGAGGGCTTGCCC 0.731000 6 12 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158583518 158583518 + Missense_Mutation SNP G G T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr1:158583518G>T uc001fst.1 - 49 7181 c.6982C>A c.(6982-6984)Cca>Aca p.P2328T NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2328 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TACCTCCCTGGATCCACAGCA 0.493000 14 34 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92568204 92568204 + Missense_Mutation SNP G G C TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:92568204G>C uc001pdj.4 + 13 10057 c.10040G>C c.(10039-10041)aGt>aCt p.S3347T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3347 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACGTCTACAGTGCGGTTATC 0.517000 TCGA Ovarian(4;0.039) 7 10 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231362 7231362 + Silent SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr6:7231362C>T uc003mxb.3 + 9 3522 c.3030C>T c.(3028-3030)ggC>ggT p.G1010G RREB1_uc021yky.1_Silent_p.G1010G|RREB1_uc003mxc.3_Silent_p.G1010G|RREB1_uc010jnx.3_Silent_p.G1010G|RREB1_uc021ykz.1_Silent_p.G1010G|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 1010 Pro-rich. Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCTGCAGGGCCCTGTTCAGC 0.667000 5 40 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139668161 139668161 + Silent SNP C C T TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr8:139668161C>T uc003yvd.3 - 44 3759 c.3312G>A c.(3310-3312)ggG>ggA p.G1104G COL22A1_uc011ljo.2_Silent_p.G384G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1104 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATTTATGTCCCCTGGAGACA 0.388000 HNSCC(7;0.00092) 7 131 0 0 1 0 0 PSMA4 5685 broad.mit.edu 37 15 78837982 78837982 + Missense_Mutation SNP G G A TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr15:78837982G>A uc002bdu.4 + 6 541 c.383G>A c.(382-384)cGt>cAt p.R128H PSMA4_uc010blf.3_Missense_Mutation_p.R128H|PSMA4_uc002bdv.4_Missense_Mutation_p.R57H|PSMA4_uc002bdw.4_Missense_Mutation_p.R104H|PSMA4_uc002bdx.4_Missense_Mutation_p.R57H NM_002789 NP_001096138 P25789 PSA4_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA. 128 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 AAAGGAAAACGTCCCTTTGGT 0.408000 46 62 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1030583 1030583 + Frame_Shift_Del DEL G G - TCGA-KS-A4I5-01A-11D-A257-08 TCGA-KS-A4I5-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx af67f563-1ff5-4bde-98d3-2a8423cf3dc3 e2e7d21f-54cf-4016-9a52-93ece18ee0d6 g.chr11:1030583delG uc001lsw.2 - 6 933 c.882delC c.(880-882)cccfs p.P294fs NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 294 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCACAGGCCGGGGCTCCGCC 0.706 2 4 --- --- --- ---