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 MLL2 8085 broad.mit.edu 37 19 36219029 36219029 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr19:36219029G>A uc021usv.1 + 18 4528 c.4528G>A c.(4528-4530)Gcc>Acc p.A1510T MLL2_uc021usu.1_Missense_Mutation_p.A324T NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 0 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CTGGTTCGACGCCCACGACCC 0.627000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 7 10 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49052457 49052457 + Missense_Mutation SNP T T C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr15:49052457T>C uc001zwz.3 - 18 2762 c.2569A>G c.(2569-2571)Ata>Gta p.I857V CEP152_uc001zwy.3_Missense_Mutation_p.I857V|CEP152_uc001zxa.2_Missense_Mutation_p.I764V NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 857 G2/M transition of mitotic cell cycle|centrosome duplication centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TGCACAGCTATTTCTACCTGT 0.378000 35 60 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128135044 128135044 + Missense_Mutation SNP G G T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr6:128135044G>T uc011ebt.2 - 3 891 c.742C>A c.(742-744)Cta>Ata p.L248I THEMIS_uc010kfa.3_Missense_Mutation_p.L151I|THEMIS_uc021zfa.1_Missense_Mutation_p.L248I|THEMIS_uc010kfb.3_Missense_Mutation_p.L213I NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 248 CABIT 1. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCGACATCTAGACTGGGGAGG 0.343000 42 48 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280288 110280288 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:110280288G>A uc001dyo.2 - 6 768 c.458C>T c.(457-459)gCc>gTc p.A153V GSTM3_uc001dyp.2_Missense_Mutation_p.A150V|GSTM3_uc010ovv.2_Missense_Mutation_p.A153V NM_000849 NP_000840 P21266 GSTM3_HUMAN Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA. 153 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CTTTTCCCCGGCAAACCATGA 0.433000 5 255 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111652902 111652902 + Missense_Mutation SNP G G A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr6:111652902G>A uc003puy.4 - 23 8352 c.8011C>T c.(8011-8013)Ccc>Tcc p.P2671S REV3L_uc003pux.4_Missense_Mutation_p.P2593S|REV3L_uc003puz.4_Missense_Mutation_p.P2593S|REV3L_uc003pva.1_Non-coding_Transcript NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 2671 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ACTCCATTGGGGGACACTGTG 0.373000 DNA polymerases (catalytic subunits) 7 129 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54440038 54440038 + Missense_Mutation SNP G G C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:54440038G>C uc003hag.4 - 1 388 c.132C>G c.(130-132)tgC>tgG p.C44W PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 44 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAGCCTGCAGGCAGATGTGGC 0.567000 5 30 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138597183 138597183 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr7:138597183C>T uc011kql.2 - 2 2951 c.2902G>A c.(2902-2904)Gag>Aag p.E968K KIAA1549_uc011kqj.2_Missense_Mutation_p.E968K NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 968 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ATGATGTACTCCTGCACAGCT 0.468000 O BRAF pilocytic astrocytoma 22 43 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107216253 107216253 + Silent SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:107216253C>T uc010ilv.2 - 2 629 c.264G>A c.(262-264)gtG>gtA p.V88V TBCK_uc003hye.2_Silent_p.V88V|TBCK_uc003hyc.2_Silent_p.V88V|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Silent_p.V88V NM_001163435 NP_001156908 Q8TEA7 TBCK_HUMAN Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA. 88 Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TACAGTACCTCACAGGTTTCC 0.383000 42 71 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40767021 40767021 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:40767021C>T uc001cfh.1 - 31 2015 c.1903G>A c.(1903-1905)Ggc>Agc p.G635S COL9A2_uc001cfi.1_Missense_Mutation_p.G454S NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 635 Triple-helical region 1 (COL1). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCATCCTTGCCGTTGATTGCC 0.637000 7 27 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46920980 46920980 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr11:46920980C>T uc001ndn.4 - 4 748 c.505G>A c.(505-507)Ggt>Agt p.G169S LRP4_uc009ylh.2_Missense_Mutation_p.G120S NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 169 LDL-receptor class A 4. Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TCGGTGTCACCGTCGCAGTAC 0.582000 5 166 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129676574 129676575 + Missense_Mutation DNP TC TC AA TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr10:129676574_129676575TC>AA uc001lka.1 - 2 682_683 c.519_520GA>TT c.(517-522)acgacc>acTTcc p.T174S CLRN3_uc001ljz.1_Missense_Mutation_p.T106S NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN Homo sapiens clarin 3 (CLRN3), mRNA. 174 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) TAACTGTGGGTCGTTCCTTTAC 0.450000 61 96 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74919593 74919593 + Missense_Mutation SNP A A C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr16:74919593A>C uc002fdh.1 - 24 2749 c.2647T>G c.(2647-2649)Ttg>Gtg p.L883V WDR59_uc002fdf.1_Missense_Mutation_p.L328V|WDR59_uc002fdg.1_Missense_Mutation_p.L475V NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 883 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ACAAACTTCAACACTTCAGCT 0.458000 27 60 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8501033 8501033 + Missense_Mutation SNP T T C TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:8501033T>C uc003zkk.3 - 23 2592 c.1849A>G c.(1849-1851)Agt>Ggt p.S617G PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 617 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGGTGCAACTAATGTCTTGA 0.403000 TSP Lung(15;0.13) 3 56 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117052336 117052336 + Splice_Site SNP A A G TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:117052336A>G uc011lxl.2 + 46 4207 c.4207_splice c.e46-2 p.G1403_splice COL27A1_uc004bii.3_Splice_Site NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1403 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent p.?(2) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TTGATTTTTCAGGGACCAAAG 0.627000 3 67 0 0 1 0 0 EPCAM 4072 broad.mit.edu 37 2 47596655 47596655 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr2:47596655C>T uc002rvx.3 + 0 369 c.11C>T c.(10-12)cCg>cTg p.P4L NM_002354 NP_002345 P16422 EPCAM_HUMAN Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA. 4 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 ATGGCGCCCCCGCAGGTCCTC 0.741000 2 1 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11607602 11607602 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr17:11607602C>T uc002gne.3 + 24 5302 c.5234C>T c.(5233-5235)gCc>gTc p.A1745V DNAH9_uc010coo.3_Missense_Mutation_p.A1039V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1745 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A1745V(2)|p.S1744N(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATGAGAGTGCCATGAAGGAC 0.522000 7 105 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1165191 1165191 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr4:1165191C>T uc021xkj.1 - 4 929 c.304G>A c.(304-306)Gag>Aag p.E102K SPON2_uc003gco.4_Missense_Mutation_p.E102K|SPON2_uc010ibr.3_Missense_Mutation_p.E102K|SPON2_uc003gcm.1_Missense_Mutation_p.E20K NM_001199021 NP_001185950 Q9BUD6 SPON2_HUMAN Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA. 102 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCCCAGGCCTCGCCGCGCTCC 0.701000 16 74 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183963511 183963511 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr3:183963511C>T uc003fne.2 - 1 317 c.286G>A c.(286-288)Gga>Aga p.G96R ALG3_uc011brc.1_Missense_Mutation_p.G61R|ALG3_uc011brd.1_Intron|ALG3_uc011bre.1_Missense_Mutation_p.G48R|ALG3_uc011brf.1_Intron NM_005787 NP_005778 Q92685 ALG3_HUMAN Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA. 96 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAAGTGGTCCGGTGTCACCC 0.522000 19 24 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13138104 13138104 + Missense_Mutation SNP A A G TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr9:13138104A>G uc010mhy.3 - 27 4109 c.4052T>C c.(4051-4053)aTt>aCt p.I1351T MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.I56T|MPDZ_uc010mhx.3_Missense_Mutation_p.I173T|MPDZ_uc011lmm.2_Missense_Mutation_p.I210T|MPDZ_uc003zkz.4_Missense_Mutation_p.I44T|MPDZ_uc010mhz.3_Missense_Mutation_p.I1318T|MPDZ_uc011lmn.2_Missense_Mutation_p.I1318T|MPDZ_uc003zlb.4_Missense_Mutation_p.I1351T|MPDZ_uc010mia.1_Missense_Mutation_p.I1351T NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1351 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTCCAGTTCAATCATATGCAG 0.403000 13 16 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087252 49087252 + Missense_Mutation SNP C C A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr12:49087252C>A uc001rsd.4 - 8 2068 c.1745G>T c.(1744-1746)gGg>gTg p.G582V CCNT1_uc009zkz.2_Missense_Mutation_p.G297V|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 582 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AAACACAGCCCCTCCAGTCTC 0.458000 41 46 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914398 75914398 + Missense_Mutation SNP G G T rs140813985 TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr5:75914398G>T uc003kem.3 - 1 319 c.134C>A c.(133-135)cCa>cAa p.P45Q IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.P23Q NM_004101 NP_004092 O00254 PAR3_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA. 45 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AAAAGAATTTGGGGGAGCTCC 0.413000 4 139 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32793220 32793220 + Missense_Mutation SNP C C T TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr12:32793220C>T uc010ske.2 + 16 2474 c.2390C>T c.(2389-2391)gCc>gTc p.A797V FGD4_uc001rlc.3_Missense_Mutation_p.A770V|FGD4_uc001rkz.3_Missense_Mutation_p.A685V|FGD4_uc001rla.3_Missense_Mutation_p.A341V|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 685 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GACGTCAGAGCCCAGGCCACC 0.493000 60 111 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140477832 140477846 + In_Frame_Del DEL AGGTGTAGGTGCTGT AGGTGTAGGTGCTGT - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr7:140477832_140477846delAGGTGTAGGTGCTGT uc003vwc.4 - 11 1523_1537 c.1462_1476delACAGCACCTACACCT c.(1462-1476)acagcacctacacctdel p.TAPTP488del NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 488 Protein kinase. 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.L485_P490>Y(4)|p.N486_P490del(3) 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) GTAACTGCTGAGGTGTAGGTGCTGTCACATTCAAC 0.358 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 19 26 --- --- --- --- TNN 63923 broad.mit.edu 37 1 175048656 175048656 + Frame_Shift_Del DEL C C - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr1:175048656delC uc001gkl.1 + 2 710 c.597delC c.(595-597)tacfs p.Y199fs TNN_uc010pmx.1_Frame_Shift_Del_p.Y199fs NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 199 EGF-like 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACTGCGGCTACCCGGCCTGCC 0.716 2 4 --- --- --- --- COL4A2 1284 broad.mit.edu 37 13 111160356 111160356 + Frame_Shift_Del DEL T T - TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr13:111160356delT uc001vqx.3 + 46 4958 c.4669delT c.(4669-4671)tatfs p.Y1557fs NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 1557 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGTCTGCTACTATGCCAGCCG 0.622 57 103 --- --- --- --- UBR1 197131 broad.mit.edu 37 15 43270075 43270076 + Splice_Site INS - - A TCGA-EM-A2P2-01A-11D-A202-08 TCGA-EM-A2P2-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffffff5c-9797-4c83-b841-120e142e999e d44f44bd-cfb5-4d3a-8793-9c1085fff05b g.chr15:43270075_43270076insA uc001zqq.3 - 38 4284 c.4218_splice c.e38+1 p.L1406_splice NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 1406 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACTGAACACTTACCAAAACATG 0.287 42 53 --- --- --- ---