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 HTR1D 3352 broad.mit.edu 37 1 23520101 23520101 + Silent SNP C C T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr1:23520101C>T ENST00000374619.1 - 1 1121 c.612G>A c.(610-612)ggG>ggA p.G204G HTR1D_ENST00000314113.3_Silent_p.G204G NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 204 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) TGTAGAAGGCCCCACAGGTGG 0.592 3 59 --- --- --- --- B3GALT2 8707 broad.mit.edu 37 1 193150383 193150383 + Missense_Mutation SNP G G C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr1:193150383G>C ENST00000367434.4 - 2 1065 c.310C>G c.(310-312)Ctg>Gtg p.L104V CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 104 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 TGTGGTGACAGGTCTGTGTTA 0.418 12 94 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201821311 201821311 + Silent SNP C C A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr1:201821311C>A ENST00000361565.4 + 5 663 c.594C>A c.(592-594)acC>acA p.T198T IPO9_ENST00000464348.1_3'UTR NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 198 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 AGATCTTCACCATGGCTGAGG 0.438 3 28 --- --- --- --- HSPD1 3329 broad.mit.edu 37 2 198353198 198353198 + Silent SNP A A G TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr2:198353198A>G ENST00000388968.3 - 10 1500 c.1233T>C c.(1231-1233)gaT>gaC p.D411D HSPD1_ENST00000345042.2_Silent_p.D411D NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 411 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) TCACTTCAACATCACTTGTCC 0.413 8 112 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38835295 38835295 + Silent SNP C C T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr3:38835295C>T ENST00000449082.2 - 1 206 c.207G>A c.(205-207)gaG>gaA p.E69E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 69 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTGCTGGGAGCTCACCATAGA 0.552 19 177 --- --- --- --- TBCCD1 55171 broad.mit.edu 37 3 186276229 186276229 + Missense_Mutation SNP C C T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr3:186276229C>T ENST00000424280.1 - 3 948 c.469G>A c.(469-471)Gaa>Aaa p.E157K TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 157 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) TTAGATTTTTCAGTCAGGTCA 0.383 13 140 --- --- --- --- AASDH 132949 broad.mit.edu 37 4 57244445 57244445 + Missense_Mutation SNP T T G TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr4:57244445T>G ENST00000205214.6 - 4 717 c.537A>C c.(535-537)aaA>aaC p.K179N AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 179 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GTTCTTCTGCTTTTTCTTCAT 0.368 4 58 --- --- --- --- HSD17B11 51170 broad.mit.edu 37 4 88278430 88278430 + Splice_Site SNP C C A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr4:88278430C>A ENST00000358290.4 - 5 1011 c.e5+1 HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) TCTCAACTTACCTTGTACTTG 0.378 3 24 --- --- --- --- NPY2R 4887 broad.mit.edu 37 4 156136067 156136067 + Missense_Mutation SNP G G T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr4:156136067G>T ENST00000329476.3 + 2 1465 c.976G>T c.(976-978)Ggc>Tgc p.G326C NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 326 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCTTCTCTATGGCTGGATGAA 0.522 13 111 --- --- --- --- CREB5 9586 broad.mit.edu 37 7 28527795 28527795 + Silent SNP T T C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr7:28527795T>C ENST00000357727.2 + 2 396 c.6T>C c.(4-6)atT>atC p.I2I CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 2 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TCCTTCAGATTTATGAGGAAT 0.507 4 94 --- --- --- --- CLCN1 1180 broad.mit.edu 37 7 143013473 143013473 + Silent SNP C C A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr7:143013473C>A ENST00000343257.2 + 1 255 c.168C>A c.(166-168)gtC>gtA p.V56V NM_000083.2 NP_000074 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 56 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCCACAACGTCCACCCCACAC 0.577 5 65 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103298847 103298847 + Splice_Site SNP T T C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr8:103298847T>C ENST00000520539.1 - 38 5564 c.e38-2 UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCTTGCTCCTAAAATTTTTA 0.333 2 14 --- --- --- --- DDX31 64794 broad.mit.edu 37 9 135537842 135537842 + Missense_Mutation SNP T T C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr9:135537842T>C ENST00000372159.3 - 2 782 c.631A>G c.(631-633)Att>Gtt p.I211V DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000480876.1_5'UTR NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 211 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) AGTTCTGGAATGTCAGGGTTG 0.428 14 73 --- --- --- --- NAALAD2 10003 broad.mit.edu 37 11 89880613 89880613 + Missense_Mutation SNP G G A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr11:89880613G>A ENST00000534061.1 + 3 540 c.310G>A c.(310-312)Gat>Aat p.D104N NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 104 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGTTCATTATGATGTCCTCTT 0.373 4 60 --- --- --- --- CD163 9332 broad.mit.edu 37 12 7640092 7640092 + Missense_Mutation SNP A A C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr12:7640092A>C ENST00000359156.4 - 8 2115 c.1913T>G c.(1912-1914)tTt>tGt p.F638C CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 638 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCTTTTCCAAAACGTGCTCC 0.488 11 103 --- --- --- --- TM9SF1 10548 broad.mit.edu 37 14 24661453 24661453 + Silent SNP C C T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr14:24661453C>T ENST00000530611.1 - 8 1737 c.1704G>A c.(1702-1704)gtG>gtA p.V568V TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 359 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) AGTGGCTGGACACGTAGCCAG 0.547 11 156 --- --- --- --- FMN1 342184 broad.mit.edu 37 15 33194152 33194152 + Missense_Mutation SNP G G T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr15:33194152G>T ENST00000334528.9 - 9 2797 c.2798C>A c.(2797-2799)tCc>tAc p.S933Y FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y|FMN1_ENST00000559047.1_Missense_Mutation_p.S1156Y NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 1156 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCTGTGCAAGGAGGTGATACC 0.398 3 34 --- --- --- --- ZNF770 54989 broad.mit.edu 37 15 35274087 35274087 + Missense_Mutation SNP G G C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr15:35274087G>C ENST00000356321.4 - 3 1893 c.1549C>G c.(1549-1551)Cac>Gac p.H517D NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CTTTTTAAGTGAGCTGACTGT 0.343 3 50 --- --- --- --- LTK 4058 broad.mit.edu 37 15 41804906 41804906 + Splice_Site SNP G G A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr15:41804906G>A ENST00000263800.6 - 3 454 c.358C>T c.(358-360)Ctg>Ttg p.L120L LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 120 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TGCACTTACAGATACTGGCCA 0.667 TSP Lung(18;0.14) 4 16 --- --- --- --- ENTHD2 146705 broad.mit.edu 37 17 79207240 79207240 + Missense_Mutation SNP C C A TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr17:79207240C>A ENST00000374769.2 - 7 539 c.62G>T c.(61-63)gGc>gTc p.G21V AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G173V ENTH domain containing 2 ACCCGTGCGGCCGTGTTCCTT 0.687 3 31 --- --- --- --- CAMSAP3 57662 broad.mit.edu 37 19 7675491 7675491 + Missense_Mutation SNP C C T TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr19:7675491C>T ENST00000446248.2 + 8 1072 c.971C>T c.(970-972)cCg>cTg p.P324L CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P297L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 297 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TACGTCCCACCGCCACTCAAG 0.667 12 242 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16861005 16861005 + Missense_Mutation SNP G G C TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr19:16861005G>C ENST00000524140.2 + 6 1970 c.1552G>C c.(1552-1554)Gtg>Ctg p.V518L NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000549814.1_Missense_Mutation_p.V518L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 518 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCTGAGCCCGGTGCACACAGA 0.632 4 101 --- --- --- --- LINC01322 103695433 broad.mit.edu 37 3 165320249 165320250 + RNA DEL TA TA - TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr3:165320249_165320250delTA ENST00000496693.1 + 0 508 TTTGCTCCAGTACTTCCAGCAA 0.351 8 63 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720811 89720812 + Frame_Shift_Ins INS - - A rs121913291 TCGA-EJ-7791-01A-11D-2114-08 TCGA-EJ-7791-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx d32f41fb-0744-4a62-81f6-0260c4920049 9ac76378-8ea0-4911-b4f2-043db4179a44 g.chr10:89720811_89720812insA ENST00000371953.3 + 8 2319_2320 c.962_963insA c.(961-966)acaaaafs p.TK321fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 321 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTACTTTAACAAAAAATGATC 0.327 N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 15 108 --- --- --- ---