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 SLC22A4 6583 broad.mit.edu 37 5 131630375 131630375 + Silent SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr5:131630375C>T ENST00000200652.3 + 1 240 c.66C>T c.(64-66)ttC>ttT p.F22F P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 22 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCCTCATCTTCTTCCTGCTCA 0.637000 5 74 0 0 8.12818e-05 0 0 KRT6C 286887 broad.mit.edu 37 12 52865071 52865071 + Missense_Mutation SNP G G T rs143318086 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:52865071G>T ENST00000252250.6 - 5 969 c.922C>A c.(922-924)Cag>Aag p.Q308K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 308 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GTCTGCATCTGGGACAGCTCC 0.502000 28 230 3.6622e-26 2.77513e-24 0.000109025 1 0 ZFR2 23217 broad.mit.edu 37 19 3821378 3821378 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:3821378C>T ENST00000262961.4 - 10 1601 c.1591G>A c.(1591-1593)Gag>Aag p.E531K NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 531 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TCCAGCCGCTCCTCCGCCAGG 0.697000 7 10 0 0 8.12818e-05 0 0 TTN 7273 broad.mit.edu 37 2 179640610 179640610 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr2:179640610G>A ENST00000589042.1 - 28 6205 c.5981C>T c.(5980-5982)tCg>tTg p.S1994L TTN_ENST00000359218.5_Missense_Mutation_p.S1948L|TTN_ENST00000360870.5_Missense_Mutation_p.S1994L|TTN_ENST00000591111.1_Missense_Mutation_p.S1994L|TTN_ENST00000342992.6_Missense_Mutation_p.S1994L|TTN_ENST00000342175.6_Missense_Mutation_p.S1948L|TTN_ENST00000460472.2_Missense_Mutation_p.S1948L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1747 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTCTTCCGACTCTTCAGG 0.438000 7 9 0 0 0.000157383 0 0 PSPC1 55269 broad.mit.edu 37 13 20279862 20279862 + Silent SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr13:20279862G>A ENST00000338910.4 - 8 1485 c.1326C>T c.(1324-1326)gcC>gcT p.A442A NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 442 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) CTGGTCCCATGGCAGGACCAG 0.463000 5 19 0 0 8.12818e-05 0 0 PLXNC1 10154 broad.mit.edu 37 12 94637742 94637742 + Nonsense_Mutation SNP A A T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:94637742A>T ENST00000258526.4 + 12 2578 c.2329A>T c.(2329-2331)Aga>Tga p.R777* NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 777 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CATGATGGGCAGAAATTTTGA 0.328000 12 3 0 0 3.45872e-05 0 0 PES1 23481 broad.mit.edu 37 22 30984115 30984115 + Missense_Mutation SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr22:30984115T>C ENST00000354694.6 - 3 257 c.151A>G c.(151-153)Aag>Gag p.K51E PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.K51E|PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.K51E NM_001243225.1|NM_014303.3 NP_001230154.1|NP_055118.1 O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 51 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 ACCTTCTTCTTGTGTTTGGGT 0.478000 42 62 0 0 0.000147903 0 0 MAP3K4 4216 broad.mit.edu 37 6 161513084 161513084 + Nonsense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr6:161513084C>T ENST00000392142.4 + 13 3326 c.3178C>T c.(3178-3180)Cag>Tag p.Q1060* MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.Q1060*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.Q1060*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.Q1060* NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1060 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GGAGTTTAGACAGAAGATAGG 0.358000 72 49 0 0 0.000147903 0 0 CD99 4267 broad.mit.edu 37 X 2640667 2640667 + Splice_Site SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:2640667G>T ENST00000381192.3 + 6 444 c.e6-1 CD99_ENST00000381187.3_Splice_Site|CD99_ENST00000482405.2_Splice_Site|CD99_ENST00000381184.1_Splice_Site NM_001277710.1|NM_002414.3 NP_001264639.1|NP_002405.1 P14209 CD99_HUMAN CD99 molecule cell adhesion cytoplasm|integral to plasma membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 TTCTTTCCTAGGTAGCTTTTC 0.448000 31 139 1.36161e-19 9.84901e-18 0.000132358 1 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 15 56 0 0 5.01169e-05 0 0 USP35 57558 broad.mit.edu 37 11 77917004 77917004 + Missense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:77917004G>T ENST00000441408.2 + 5 633 c.68G>T c.(67-69)cGg>cTg p.R23L USP35_ENST00000530267.1_Silent_p.T6T|USP35_ENST00000530535.1_Intron|USP35_ENST00000529308.1_Silent_p.T438T|USP35_ENST00000526425.1_Silent_p.T169T Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 0 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AGTCAGACACGGGCAAGATTG 0.557000 79 5778 1.64113e-05 0.00107326 0.000175454 1 0 ODF1 4956 broad.mit.edu 37 8 103572783 103572783 + Nonsense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr8:103572783C>T ENST00000285402.3 + 2 580 c.424C>T c.(424-426)Cga>Tga p.R142* ODF1_ENST00000518835.1_5'UTR NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 142 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AGTCAAAGTTCGAGTGAAGGA 0.448000 22 34 0 0 4.16121e-05 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659525 50659525 + Missense_Mutation SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:50659525T>C ENST00000371824.1 + 4 700 c.443T>C c.(442-444)cTg>cCg p.L148P ELAVL4_ENST00000371823.4_Missense_Mutation_p.L148P|ELAVL4_ENST00000371819.1_Missense_Mutation_p.L153P|ELAVL4_ENST00000357083.4_Missense_Mutation_p.L165P|ELAVL4_ENST00000448907.2_Missense_Mutation_p.L151P|ELAVL4_ENST00000371827.1_Missense_Mutation_p.L148P|ELAVL4_ENST00000371821.1_Missense_Mutation_p.L153P P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 148 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CAGAAGGAACTGGAGCAACTT 0.468000 4 11 0 0 0.00024832 0 0 ITGAM 3684 broad.mit.edu 37 16 31284753 31284753 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr16:31284753G>A ENST00000544665.3 + 8 843 c.772G>A c.(772-774)Gat>Aat p.D258N ITGAM_ENST00000287497.8_Missense_Mutation_p.D258N NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 258 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TGTCATCACGGATGGAGAAAA 0.498000 14 28 0 0 0.000219431 0 0 GALNT14 79623 broad.mit.edu 37 2 31155012 31155012 + Missense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr2:31155012G>T ENST00000349752.5 - 10 1619 c.980C>A c.(979-981)cCc>cAc p.P327H GALNT14_ENST00000356174.3_Missense_Mutation_p.P294H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P332H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.P292H|GALNT14_ENST00000406653.1_Missense_Mutation_p.P307H NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 327 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TCGGCTGCAGGGGACGATCTC 0.567000 24 35 7.92952e-12 5.33177e-10 7.16444e-05 1 0 VPS13A 23230 broad.mit.edu 37 9 79898509 79898509 + Silent SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr9:79898509C>T ENST00000360280.3 + 31 3542 c.3282C>T c.(3280-3282)aaC>aaT p.N1094N VPS13A_ENST00000376636.3_Silent_p.N1055N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.N1094N|VPS13A_ENST00000357409.5_Silent_p.N1094N NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1094 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGAAATAAACGCAAAGCTAA 0.284000 5 5 0 0 1.23904e-05 0 0 KMT2A 4297 broad.mit.edu 37 11 118376241 118376241 + Missense_Mutation SNP A A G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:118376241A>G ENST00000534358.1 + 27 9657 c.9634A>G c.(9634-9636)Acc>Gcc p.T3212A KMT2A_ENST00000389506.5_Missense_Mutation_p.T3209A|KMT2A_ENST00000354520.4_Missense_Mutation_p.T3171A NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGACCTCAGTACCACAGTAGC 0.488000 27 10 0 0 7.16444e-05 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66130838 66130838 + RNA SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:66130838G>A ENST00000590019.1 - 0 298 CTGGTCTAGGGGCGGCATGCT 0.577000 5 11 0 0 1.23904e-05 0 0 CRTAC1 55118 broad.mit.edu 37 10 99683047 99683047 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr10:99683047G>A ENST00000370597.3 - 4 887 c.532C>T c.(532-534)Cgc>Tgc p.R178C CRTAC1_ENST00000370591.2_Missense_Mutation_p.R178C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R178C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 178 proteinaceous extracellular matrix calcium ion binding p.R178C(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCCACAGAGCGTCCGGCAAAG 0.592000 7 54 0 0 0.000274275 0 0 HCAR2 338442 broad.mit.edu 37 12 123187358 123187358 + Missense_Mutation SNP A A T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:123187358A>T ENST00000328880.5 - 1 532 c.473T>A c.(472-474)cTg>cAg p.L158Q HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 158 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GTGGACTGTCAGGCCAATAGT 0.547000 20 83 0 0 0.000229342 0 0 KIAA1045 23349 broad.mit.edu 37 9 34977182 34977182 + Silent SNP C C A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr9:34977182C>A ENST00000242315.3 + 6 1034 c.952C>A c.(952-954)Cgg>Agg p.R318R KIAA1045_ENST00000544237.1_Silent_p.R318R|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 318 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGAGTGCCGCCGGGCCCAGCA 0.637000 24 47 2.41591e-17 1.69611e-15 9.22233e-05 1 0 RLIM 51132 broad.mit.edu 37 X 73811749 73811749 + Silent SNP G G C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:73811749G>C ENST00000332687.6 - 4 1619 c.1401C>G c.(1399-1401)tcC>tcG p.S467S RLIM_ENST00000349225.2_Silent_p.S467S NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 467 Poly-Ser.|Ser-rich. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 aactggaactggaactcgaac 0.468000 3 20 0 0 6.4e-05 0 0 PDC 5132 broad.mit.edu 37 1 186413523 186413523 + Missense_Mutation SNP C C A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:186413523C>A ENST00000391997.2 - 4 416 c.329G>T c.(328-330)aGa>aTa p.R110I PDC_ENST00000497198.1_Missense_Mutation_p.R58I|PDC_ENST00000456239.2_Missense_Mutation_p.R58I|PDC_ENST00000340129.5_Missense_Mutation_p.R110I NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 110 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) AAACCCATATCTAGGCCCAAA 0.383000 38 13 8.20599e-20 6.02698e-18 0.000106405 1 0 TAS2R43 259289 broad.mit.edu 37 12 11244482 11244482 + Missense_Mutation SNP A A G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:11244482A>G ENST00000531678.1 - 1 430 c.347T>C c.(346-348)tTt>tCt p.F116S TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 116 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AAGAAAAATAAAGTTGGAGAA 0.378000 3 30 0 0 6.4e-05 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933928 49933928 + Missense_Mutation SNP C C T rs145455204 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:49933928C>T ENST00000221485.3 - 12 1702 c.1531G>A c.(1531-1533)Gtt>Att p.V511I SLC17A7_ENST00000600601.1_Missense_Mutation_p.V444I|SLC17A7_ENST00000543531.1_Missense_Mutation_p.V499I NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 511 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCATGGCCAACGAAGCCACAC 0.632000 44 13 0 0 0.000125731 0 0 MET 4233 broad.mit.edu 37 7 116339558 116339558 + Silent SNP C C G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:116339558C>G ENST00000397752.3 + 2 620 c.420C>G c.(418-420)acC>acG p.T140T MET_ENST00000436117.2_Silent_p.T140T|MET_ENST00000318493.6_Silent_p.T140T NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 140 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ACAGAGGGACCTGCCAGCGAC 0.488000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 19 34 0 0 9.7654e-05 0 0 CD70 970 broad.mit.edu 37 19 6586403 6586403 + Silent SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:6586403G>A ENST00000245903.3 - 3 359 c.210C>T c.(208-210)gaC>gaT p.D70D CD70_ENST00000423145.3_Silent_p.D70D NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 70 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 ATAGCCTGGGGTCCTGCTGAG 0.582000 8 14 0 0 0.000157383 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961607 50961607 + Silent SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr22:50961607G>A ENST00000395701.3 + 19 1783 c.1689G>A c.(1687-1689)ctG>ctA p.L563L NCAPH2_ENST00000299821.11_Intron|NCAPH2_ENST00000420993.2_Intron Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 0 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TGAGTAGCCTGGGATACGTGG 0.637000 6 21 0 0 8.12818e-05 0 0 NCOR1 9611 broad.mit.edu 37 17 16052809 16052809 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:16052809G>A ENST00000268712.3 - 9 1122 c.865C>T c.(865-867)Ctc>Ttc p.L289F NCOR1_ENST00000395851.1_Missense_Mutation_p.L289F|NCOR1_ENST00000395848.1_Missense_Mutation_p.L180F NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 289 Interaction with SIN3A/B.|Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATAAAATGAGTTTTTTCCTC 0.313000 27 114 0 0 0.000184323 0 0 LRRC10 376132 broad.mit.edu 37 12 70004410 70004410 + Missense_Mutation SNP T T A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:70004410T>A ENST00000361484.3 - 1 532 c.209A>T c.(208-210)gAg>gTg p.E70V NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 70 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTGCCCCAGCTCCGGAGGCAG 0.582000 9 267 0 0 3.86212e-05 0 0 SON 6651 broad.mit.edu 37 21 34923346 34923346 + Silent SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:34923346T>C ENST00000356577.4 + 3 2284 c.1809T>C c.(1807-1809)gcT>gcC p.A603A SON_ENST00000290239.6_Silent_p.A603A|SON_ENST00000300278.4_Silent_p.A603A|SON_ENST00000381679.4_Silent_p.A603A|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 603 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TCATGGCAGCTGGGGCACTGG 0.657000 29 58 0 0 8.91981e-05 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934445 113934445 + Silent SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:113934445G>T ENST00000335953.4 + 2 803 c.423G>T c.(421-423)ggG>ggT p.G141G ZBTB16_ENST00000392996.2_Silent_p.G141G NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 141 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CCGATGGCGGGGCCGAGGAAG 0.582000 53 958 1.00221e-16 6.93415e-15 0.000147903 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 9 51 0 0 3.45872e-05 0 0 LRRC32 2615 broad.mit.edu 37 11 76371968 76371968 + Silent SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:76371968T>C ENST00000407242.2 - 3 911 c.669A>G c.(667-669)ctA>ctG p.L223L LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L223L|LRRC32_ENST00000260061.5_Silent_p.L223L|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 223 L -> V (in dbSNP:rs35033061). integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 AGCTCAGGTCTAGCACCCGCA 0.622000 40 638 0 0 5.1965e-05 0 0 TTI1 9675 broad.mit.edu 37 20 36634691 36634691 + Missense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr20:36634691G>T ENST00000373448.2 - 4 2649 c.2411C>A c.(2410-2412)aCc>aAc p.T804N TTI1_ENST00000373447.3_Missense_Mutation_p.T804N|TTI1_ENST00000449821.1_Missense_Mutation_p.T804N NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 804 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTCAGCTGTGGTGGTGCTCTT 0.448000 36 162 9.8876e-21 7.37553e-19 0.000159656 1 0 PPTC7 160760 broad.mit.edu 37 12 110977692 110977692 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:110977692C>T ENST00000354300.3 - 4 949 c.661G>A c.(661-663)Gca>Aca p.A221T NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 221 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 CCATCTGTTGCCGTCAGGATA 0.448000 9 57 0 0 2.17888e-05 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8662006 8662006 + Missense_Mutation SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:8662006T>C ENST00000270328.4 - 7 1171 c.905A>G c.(904-906)gAg>gGg p.E302G ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E302G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 302 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GTGGGTGATCTCCAGAGTGGG 0.592000 28 79 0 0 4.66903e-05 0 0 DNAH9 1770 broad.mit.edu 37 17 11572800 11572800 + Silent SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:11572800G>A ENST00000262442.3 + 17 3110 c.3042G>A c.(3040-3042)tcG>tcA p.S1014S DNAH9_ENST00000454412.2_Silent_p.S1014S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1014 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 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) GCCAGTATTCGTACCTCTATG 0.522000 6 46 0 0 0.000157383 0 0 MUC4 4585 broad.mit.edu 37 3 195515747 195515747 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:195515747C>T ENST00000463781.3 - 2 3163 c.2704G>A c.(2704-2706)Gcc>Acc p.A902T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A902T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 907 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A902T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAATGGCGGCTGTCTCCTGA 0.607000 11 20 0 0 6.40141e-05 0 0 ACBD4 79777 broad.mit.edu 37 17 43215194 43215194 + Missense_Mutation SNP G G C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:43215194G>C ENST00000431281.1 + 9 1077 c.608G>C c.(607-609)aGc>aCc p.S203T ACBD4_ENST00000592162.1_Missense_Mutation_p.E190D|ACBD4_ENST00000591859.1_Missense_Mutation_p.S203T|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Missense_Mutation_p.E190D|ACBD4_ENST00000376955.4_Missense_Mutation_p.E190D|ACBD4_ENST00000398322.3_Missense_Mutation_p.E190D|ACBD4_ENST00000586346.1_Missense_Mutation_p.S203T NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 187 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 TGGAGCCTGAGCTGGTGAGCC 0.597000 28 173 0 0 0.000279167 0 0 NFAM1 150372 broad.mit.edu 37 22 42805442 42805442 + Splice_Site SNP T T A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr22:42805442T>A ENST00000329021.5 - 3 600 c.564_splice c.e3+1 p.K188_splice NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 188 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 ATCCCGTACCTTGTTCCAGAG 0.667000 7 125 0 0 0.000274275 0 0 KCNMA1 3778 broad.mit.edu 37 10 78872169 78872169 + Missense_Mutation SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr10:78872169T>C ENST00000286627.5 - 7 1868 c.916A>G c.(916-918)Ata>Gta p.I306V KCNMA1_ENST00000404771.3_Missense_Mutation_p.I306V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.I306V|KCNMA1_ENST00000406533.3_Missense_Mutation_p.I306V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.I306V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.I306V|KCNMA1_ENST00000404857.1_Missense_Mutation_p.I306V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.I306V NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 306 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTGATAAATATGGAGAGCAGA 0.522000 OREG0020286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 5 0 0 0.000151284 0 0 HEATR4 399671 broad.mit.edu 37 14 73985814 73985814 + Nonsense_Mutation SNP C C A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr14:73985814C>A ENST00000553558.1 - 5 1444 c.1123G>T c.(1123-1125)Gaa>Taa p.E375* RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.E375*|HEATR4_ENST00000560393.1_Nonsense_Mutation_p.E328* NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTTAGGTTTTCCAGGACAATC 0.453000 21 45 1.55795e-14 1.06252e-12 0.000229342 1 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 5 32 0 0 8.12818e-05 0 0 DENND1C 79958 broad.mit.edu 37 19 6477464 6477464 + Silent SNP G G C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:6477464G>C ENST00000381480.2 - 7 484 c.372C>G c.(370-372)acC>acG p.T124T DENND1C_ENST00000543576.1_Silent_p.T80T|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 124 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCTCTGCCTCGGTGACCTGGG 0.617000 5 20 0 0 8.12818e-05 0 0 NACA 4666 broad.mit.edu 37 12 57113369 57113369 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:57113369G>A ENST00000454682.1 - 3 2226 c.1945C>T c.(1945-1947)Cct>Tct p.P649S NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P606S|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTCCAAAGGAAATGCAGCC 0.512000 T BCL6 NHL 9 206 0 0 0.000274275 0 0 DNM2 1785 broad.mit.edu 37 19 10939755 10939755 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:10939755C>T ENST00000314646.5 + 19 2266 c.2102C>T c.(2101-2103)tCc>tTc p.S701F DNM2_ENST00000389253.4_Missense_Mutation_p.S701F|DNM2_ENST00000359692.6_Missense_Mutation_p.S697F|DNM2_ENST00000355667.6_Missense_Mutation_p.S701F|DNM2_ENST00000585892.1_Missense_Mutation_p.S701F|DNM2_ENST00000408974.4_Missense_Mutation_p.S697F P50570 DYN2_HUMAN dynamin 2 701 GED. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TACCTATACTCCTCGGCAGAC 0.632000 """F, N, Splice, Mis, O""" ETP ALL 6 27 0 0 8.12818e-05 0 0 JUP 3728 broad.mit.edu 37 17 39913672 39913672 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:39913672C>T ENST00000393931.3 - 12 2159 c.2041G>A c.(2041-2043)Gag>Aag p.E681K JUP_ENST00000310706.5_Missense_Mutation_p.E681K|JUP_ENST00000393930.1_Missense_Mutation_p.E681K|JUP_ENST00000540235.1_Intron NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 681 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTCACAGCCTCCCAGGCAGCC 0.572000 32 91 0 0 0.000270559 0 0 NNMT 4837 broad.mit.edu 37 11 114182786 114182786 + Nonsense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:114182786G>T ENST00000535401.1 + 5 646 c.382G>T c.(382-384)Gag>Tag p.E128* NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Nonsense_Mutation_p.E128* P40261 NNMT_HUMAN nicotinamide N-methyltransferase 128 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) TCCAGAGAAGGAGGAGAAGTT 0.547000 59 32 2.53126e-37 1.94907e-35 0.000147903 1 0 HDAC5 10014 broad.mit.edu 37 17 42161941 42161941 + Missense_Mutation SNP C C G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:42161941C>G ENST00000225983.6 - 16 2613 c.2290G>C c.(2290-2292)Gac>Cac p.D764H HDAC5_ENST00000586802.1_Missense_Mutation_p.D763H|HDAC5_ENST00000393622.2_Missense_Mutation_p.D763H|HDAC5_ENST00000336057.5_Intron Q9UQL6 HDAC5_HUMAN histone deacetylase 5 763 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TTCTTGCTGTCTAGCTTCTGC 0.592000 OREG0024450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 0 0 0.000175454 0 0 SHMT2 6472 broad.mit.edu 37 12 57626583 57626583 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:57626583G>A ENST00000328923.3 + 7 1266 c.814G>A c.(814-816)Gac>Aac p.D272N SHMT2_ENST00000393827.4_Missense_Mutation_p.D176N|SHMT2_ENST00000449049.3_Missense_Mutation_p.D251N|SHMT2_ENST00000414700.3_Missense_Mutation_p.D251N|SHMT2_ENST00000557487.1_Missense_Mutation_p.D262N|SHMT2_ENST00000553474.1_Missense_Mutation_p.D251N NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 272 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAAGCACGCGGACATCGTCAC 0.602000 14 352 0 0 2.31682e-05 0 0 DSCAM 1826 broad.mit.edu 37 21 41450683 41450683 + Missense_Mutation SNP T T A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:41450683T>A ENST00000400454.1 - 26 5119 c.4642A>T c.(4642-4644)Atg>Ttg p.M1548L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1548 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACACCCGCATCTGCAGCTCA 0.582000 12 27 0 0 0.000151284 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672894 141672894 + Missense_Mutation SNP T T C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:141672894T>C ENST00000547270.1 - 1 679 c.596A>G c.(595-597)tAt>tGt p.Y199C NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 199 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGACCACAGATAGCAGAAGAG 0.423000 11 14 0 0 6.40141e-05 0 0 NPTX2 4885 broad.mit.edu 37 7 98256538 98256538 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:98256538C>T ENST00000265634.3 + 4 1115 c.950C>T c.(949-951)aCg>aTg p.T317M NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 317 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GTCACCTGGACGACACGGGAT 0.642000 10 63 0 0 6.40141e-05 0 0 LRIG3 121227 broad.mit.edu 37 12 59268354 59268354 + Splice_Site SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:59268354C>T ENST00000320743.3 - 17 2983 c.2695_splice c.e17-1 p.G899_splice LRIG3_ENST00000379141.4_Splice_Site_p.G839_splice NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 899 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TATGGCAGGTCCCTTTGAAAC 0.403000 T ROS1 NSCLC 87 150 0 0 0.000147903 0 0 NCOR1 9611 broad.mit.edu 37 17 15974803 15974803 + Missense_Mutation SNP C C G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:15974803C>G ENST00000268712.3 - 30 4329 c.4072G>C c.(4072-4074)Gat>Cat p.D1358H NCOR1_ENST00000395851.1_Missense_Mutation_p.D1374H|NCOR1_ENST00000395857.3_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1358 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTTAAAATATCTTGCCTTGGA 0.443000 18 77 0 0 5.01169e-05 0 0 MAP7D2 256714 broad.mit.edu 37 X 20134870 20134870 + Missense_Mutation SNP T T G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:20134870T>G ENST00000379651.3 - 1 146 c.128A>C c.(127-129)cAa>cCa p.Q43P MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q43P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q43P NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 43 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GATAATACCTTGAGGCCGGTA 0.711000 13 35 0 0 5.01169e-05 0 0 RASSF8 11228 broad.mit.edu 37 12 26217544 26217544 + Missense_Mutation SNP G G A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:26217544G>A ENST00000405154.2 + 3 416 c.217G>A c.(217-219)Gtg>Atg p.V73M RASSF8_ENST00000541490.1_Missense_Mutation_p.V73M|RASSF8_ENST00000381352.3_Missense_Mutation_p.V73M|RASSF8_ENST00000542865.1_Missense_Mutation_p.V73M|RASSF8_ENST00000282884.9_Missense_Mutation_p.V73M NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 73 Ras-associating. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) TGCTAGTGATGTGCAGCTCAT 0.453000 14 27 0 0 3.45872e-05 0 0 GLRA4 441509 broad.mit.edu 37 X 102968473 102968473 + Missense_Mutation SNP C C T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:102968473C>T ENST00000372617.4 - 8 1478 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q TMEM31_ENST00000319560.6_Intron NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 353 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTGCCTTCTTCGAAGTCGTAT 0.517000 35 32 0 0 0.000159656 0 0 PRG4 10216 broad.mit.edu 37 1 186276689 186276689 + Missense_Mutation SNP C C G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:186276689C>G ENST00000445192.2 + 7 1883 c.1838C>G c.(1837-1839)cCc>cGc p.P613R PRG4_ENST00000367485.4_Missense_Mutation_p.P520R|PRG4_ENST00000367486.3_Missense_Mutation_p.P570R|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P572R NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 613 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAACTACCCCCAAGGAGACT 0.662000 41 18 0 0 0.000147903 0 0 CASS4 57091 broad.mit.edu 37 20 55033678 55033678 + Missense_Mutation SNP G G T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr20:55033678G>T ENST00000371336.3 + 6 2437 c.2236G>T c.(2236-2238)Gac>Tac p.D746Y CASS4_ENST00000434344.1_Missense_Mutation_p.D309Y|CASS4_ENST00000360314.3_Missense_Mutation_p.D746Y NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 746 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCTGCTCAAGGACGTAGCGCT 0.652000 12 21 2.27111e-07 1.50587e-05 0.00010058 1 0 KBTBD12 166348 broad.mit.edu 37 3 127682078 127682078 + Frame_Shift_Del DEL C C - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:127682078delC ENST00000405109.1 + 5 2006 c.1539delC c.(1537-1539)tgfs p.C513fs KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.C513fs|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.C88fs|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.C120fs Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 513 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 TTCGAAAATGCCTTGACGTGG 0.522 2 4 --- --- --- --- NAALADL2 254827 broad.mit.edu 37 3 175473198 175473198 + Frame_Shift_Del DEL T T - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:175473198delT ENST00000454872.1 + 13 2309 c.2181delT c.(2179-2181)ggfs p.G727fs NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 727 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CACCACCAGGTTTTTATAGGT 0.393 2 4 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 10 427 --- --- --- --- SPRED1 161742 broad.mit.edu 37 15 38643678 38643679 + Frame_Shift_Ins INS - - A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr15:38643678_38643679insA ENST00000299084.4 + 7 2008_2009 c.1148_1149insA c.(1147-1149)tgafs p.*383fs NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 383 SPR. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ATGTCAGACTCAGAGGGAGATT 0.436 Legius syndrome 13 1 --- --- --- --- PIGB 9488 broad.mit.edu 37 15 55631503 55631503 + Frame_Shift_Del DEL T T - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr15:55631503delT ENST00000164305.5 + 7 1124 c.833delT c.(832-834)atfs p.I278fs PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 278 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) ATTGATCGTATTTTTTTTGGC 0.284 3 6 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 13 221 --- --- --- ---