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 PZP 5858 broad.mit.edu 37 12 9307319 9307319 + Missense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:9307319G>T ENST00000261336.2 - 29 3695 c.3667C>A c.(3667-3669)Ctc>Atc p.L1223I PZP_ENST00000381997.2_Missense_Mutation_p.L1009I NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGGGCCGTGAGATAAGCGAGG 0.582000 20 26 3.62473e-10 1.2495e-09 0.00188189 1 0 RTTN 25914 broad.mit.edu 37 18 67843922 67843922 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr18:67843922G>A ENST00000255674.6 - 11 1751 c.1465C>T c.(1465-1467)Cct>Tct p.P489S RTTN_ENST00000437017.1_Missense_Mutation_p.P489S|RTTN_ENST00000454359.1_Missense_Mutation_p.P489S NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 489 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TTTTCAACAGGGAGAAGCGTT 0.418000 26 59 0 0 0.000720815 0 0 DOCK10 55619 broad.mit.edu 37 2 225653885 225653885 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:225653885T>A ENST00000409592.3 - 48 5409 c.5296A>T c.(5296-5298)Atg>Ttg p.M1766L DOCK10_ENST00000258390.7_Missense_Mutation_p.M1772L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1772 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATAGAGAACATGCCTTGGGAG 0.373000 5 19 0 0 0.000602214 0 0 SS18 6760 broad.mit.edu 37 18 23632698 23632698 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr18:23632698G>A ENST00000415083.2 - 5 552 c.497C>T c.(496-498)tCt>tTt p.S166F SS18_ENST00000542420.2_Missense_Mutation_p.S143F|SS18_ENST00000539849.1_Missense_Mutation_p.S84F|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_Missense_Mutation_p.S114F|SS18_ENST00000545952.1_Missense_Mutation_p.S114F|SS18_ENST00000269137.7_Missense_Mutation_p.S166F NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 166 Transcriptional activation. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TGATGGCACAGAATGGTTGTA 0.458000 T """SSX1, SSX2""" synovial sarcoma 48 92 0 0 0.00361006 0 0 COL15A1 1306 broad.mit.edu 37 9 101817638 101817638 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:101817638G>A ENST00000375001.3 + 34 3599 c.3176G>A c.(3175-3177)gGa>gAa p.G1059E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1059 Triple-helical region 8 (COL8). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGCCTGCCCGGAAATCCAGGC 0.542000 27 63 0 0 0.00395357 0 0 AGAP2 116986 broad.mit.edu 37 12 58124681 58124681 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:58124681T>G ENST00000257897.3 - 11 1278 c.1193A>C c.(1192-1194)aAa>aCa p.K398T AGAP2_ENST00000547588.1_Missense_Mutation_p.K734T NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 734 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GCCCGGGACTTTGACTGTTGT 0.592000 3 7 0 0 6.4e-05 0 0 USP1 7398 broad.mit.edu 37 1 62907261 62907261 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:62907261T>C ENST00000339950.4 + 3 1088 c.273T>C c.(271-273)taT>taC p.Y91Y USP1_ENST00000371146.1_Silent_p.Y91Y NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 91 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) ATACTTGCTATCTTAATAGTA 0.343000 31 36 0 0 0.00209593 0 0 HRG 3273 broad.mit.edu 37 3 186395211 186395211 + Nonsense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:186395211G>T ENST00000232003.4 + 7 1197 c.1117G>T c.(1117-1119)Gaa>Taa p.E373* NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 373 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ccatcctcatgaacatgatac 0.517000 29 10 1.77063e-15 6.41665e-15 0.000878237 1 0 EPRS 2058 broad.mit.edu 37 1 220206926 220206926 + Silent SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:220206926G>C ENST00000366923.3 - 4 575 c.306C>G c.(304-306)ctC>ctG p.L102L NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 102 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GGCAATGATTGAGTTCATTAA 0.343000 20 77 0 0 0.00121646 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184368144 184368144 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:184368144A>G ENST00000504169.1 + 3 1514 c.1307A>G c.(1306-1308)aAg>aGg p.K436R CDKN2AIP_ENST00000302350.4_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 436 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GTGAAACAGAAGCAACCTTTT 0.408000 24 38 0 0 0.00278032 0 0 SMURF1 57154 broad.mit.edu 37 7 98645385 98645385 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:98645385G>A ENST00000361125.1 - 11 1471 c.1152C>T c.(1150-1152)gtC>gtT p.V384V AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Silent_p.V358V NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 384 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CGTGTCTGAGGACTTTCAGCT 0.567000 123 97 0 0 0.00361006 0 0 BCL9 607 broad.mit.edu 37 1 147096739 147096739 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:147096739C>T ENST00000234739.3 + 10 5000 c.4260C>T c.(4258-4260)aaC>aaT p.N1420N NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1420 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GACCTGGCAACCCAGGAAACA 0.542000 T """IGH@, IGL@""" B-ALL 18 15 0 0 0.000958276 0 0 KRT86 3892 broad.mit.edu 37 12 52699946 52699946 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:52699946A>G ENST00000293525.5 + 7 1181 c.1129A>G c.(1129-1131)Aag>Gag p.K377E KRT86_ENST00000423955.2_Missense_Mutation_p.K377E|KRT86_ENST00000544024.1_Missense_Mutation_p.K377E NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 377 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCCCTGCAGAAGGCCAAGCA 0.642000 OREG0021845 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 76 0 0 0.00375469 0 0 SHANK3 85358 broad.mit.edu 37 22 51117039 51117039 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:51117039C>T ENST00000414786.2 + 4 593 c.366C>T c.(364-366)taC>taT p.Y122Y SHANK3_ENST00000445220.2_Silent_p.Y122Y|SHANK3_ENST00000262795.3_Silent_p.Y122Y F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 122 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TCATGGACTACGTCCAGCTGC 0.602000 8 17 0 0 0.00307968 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794733 176794733 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:176794733C>A ENST00000272748.4 - 13 1496 c.1249G>T c.(1249-1251)Gat>Tat p.D417Y KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D448Y NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 417 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AGTTCAGGATCAGGAATAGAA 0.428000 24 61 1.64293e-13 5.80503e-13 0.00332997 1 0 MACC1 346389 broad.mit.edu 37 7 20198105 20198105 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:20198105C>T ENST00000400331.5 - 5 2187 c.1879G>A c.(1879-1881)Gat>Aat p.D627N MACC1_ENST00000589011.1_Missense_Mutation_p.D627N|MACC1_ENST00000332878.4_Missense_Mutation_p.D627N NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 627 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AAGACACTATCTGACATAAAC 0.353000 33 76 0 0 0.00209593 0 0 MAML2 84441 broad.mit.edu 37 11 95825060 95825060 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:95825060C>G ENST00000524717.1 - 2 3419 c.2135G>C c.(2134-2136)aGa>aCa p.R712T NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 712 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCTTACCTGTCTCTGTTGTTG 0.443000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 9 6 0 0 0.000978159 0 0 RBM41 55285 broad.mit.edu 37 X 106358744 106358744 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:106358744G>C ENST00000372487.1 - 4 387 c.361C>G c.(361-363)Ctt>Gtt p.L121V RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Missense_Mutation_p.L121V|RBM41_ENST00000372479.3_Missense_Mutation_p.L121V NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 121 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 ATATCTTGAAGACGGTTCTGT 0.463000 32 13 0 0 0.00209593 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839375 173839375 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:173839375T>C ENST00000367704.1 + 3 411 c.12T>C c.(10-12)ggT>ggC p.G4G ZBTB37_ENST00000427304.1_Silent_p.G4G|ZBTB37_ENST00000367702.1_Silent_p.G4G|ZBTB37_ENST00000432989.1_Silent_p.G4G|ZBTB37_ENST00000367701.4_Silent_p.G4G Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 TGGAGAAAGGTGGGAACATAC 0.443000 16 22 0 0 0.00316338 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 253 0 0 0.00024832 0 0 OXSM 54995 broad.mit.edu 37 3 25832618 25832618 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:25832618C>A ENST00000280701.3 + 2 206 c.107C>A c.(106-108)cCa>cAa p.P36Q OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.P36Q NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 36 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 GGAACTGTGCCAATATCCAGA 0.423000 46 32 4.06502e-11 1.42444e-10 0.00321405 1 0 MORC2 22880 broad.mit.edu 37 22 31330915 31330915 + Silent SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:31330915G>C ENST00000215862.4 - 20 3223 c.1860C>G c.(1858-1860)gtC>gtG p.V620V MORC2_ENST00000397641.2_Silent_p.V682V NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 682 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ATGCAGTCTTGACGAGAGTGT 0.602000 26 56 0 0 0.00127121 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484584 117484584 + Silent SNP C C T rs149801733 TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:117484584C>T ENST00000393203.2 + 2 444 c.297C>T c.(295-297)aaC>aaT p.N99N NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 99 Ig-like C2-type 1. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GGACTGCCAACGACGCCGTGG 0.587000 5 27 0 0 0.000602214 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921501 178921501 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:178921501G>C ENST00000263967.3 + 5 1140 c.983G>C c.(982-984)tGg>tCg p.W328S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 328 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAATCCCTTTGGGTTATAAAT 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 28 328 0 0 0.00106085 0 0 TAF2 6873 broad.mit.edu 37 8 120809913 120809913 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:120809913C>G ENST00000378164.2 - 7 1264 c.966G>C c.(964-966)atG>atC p.M322I NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 322 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAAAAATGCTCATGGAAGCAT 0.338000 11 25 0 0 0.00185496 0 0 MDGA2 161357 broad.mit.edu 37 14 47351355 47351355 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr14:47351355T>A ENST00000426342.1 - 11 2160 c.1414A>T c.(1414-1416)Aca>Tca p.T472S MDGA2_ENST00000399232.2_Missense_Mutation_p.T770S|MDGA2_ENST00000357362.3_Missense_Mutation_p.T472S|MDGA2_ENST00000439988.2_Missense_Mutation_p.T701S|MDGA2_ENST00000399222.3_5'UTR NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 701 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AAGTTATATGTAATTAATTCT 0.373000 18 17 0 0 0.000958276 0 0 ZNF507 22847 broad.mit.edu 37 19 32844889 32844889 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:32844889A>G ENST00000311921.3 + 2 1345 c.1153A>G c.(1153-1155)Atc>Gtc p.I385V ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.I385V|ZNF507_ENST00000355898.5_Missense_Mutation_p.I385V NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) ACAGAAAATCATCAGCAGCAG 0.458000 29 44 0 0 0.00106085 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117364750 117364750 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:117364750C>G ENST00000160373.3 - 19 4389 c.4298G>C c.(4297-4299)aGt>aCt p.S1433T NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1433 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TAAAGGGAAACTTCCTCCTTT 0.418000 6 29 0 0 0.000274275 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502789 140502789 + Silent SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:140502789A>T ENST00000194152.1 + 1 1209 c.1209A>T c.(1207-1209)gtA>gtT p.V403V NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 403 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGGTAACAGAGAGAC 0.448000 32 19 0 0 0.001512 0 0 FAT1 2195 broad.mit.edu 37 4 187540589 187540589 + Missense_Mutation SNP T T C rs139480903 by1000genomes TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:187540589T>C ENST00000441802.2 - 10 7360 c.7151A>G c.(7150-7152)aAt>aGt p.N2384S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2384 Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGGATTATCATTGAGGTCGGT 0.502000 HNSCC(5;0.00058) 18 39 0 0 0.000566183 0 0 OSBPL11 114885 broad.mit.edu 37 3 125271261 125271261 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:125271261A>G ENST00000296220.5 - 9 1707 c.1418T>C c.(1417-1419)tTt>tCt p.F473S NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 473 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 AGAACTGCTAAAAACACTGGA 0.453000 15 27 0 0 0.00244969 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698472 29698472 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:29698472T>C ENST00000304863.4 - 2 1230 c.808A>G c.(808-810)Atg>Gtg p.M270V NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 270 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) ACAATCACCATATCGTCACTG 0.473000 14 26 0 0 0.00316338 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107031256 107031256 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr6:107031256T>C ENST00000369063.3 - 8 1495 c.1030A>G c.(1030-1032)Atg>Gtg p.M344V RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_Silent_p.S220S NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 344 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CCACTGGCCATGAAAAATGCC 0.413000 20 28 0 0 0.00188189 0 0 CBFA2T3 863 broad.mit.edu 37 16 88951552 88951552 + Missense_Mutation SNP G G A rs151180006 TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr16:88951552G>A ENST00000268679.4 - 7 1415 c.1019C>T c.(1018-1020)cCg>cTg p.P340L CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P264L|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P254L|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P254L|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P302L|RP11-830F9.5_ENST00000565053.1_RNA NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 340 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCGGTAGTGCGGCGGCGGTGT 0.697000 T RUNX1 AML 7 19 0 0 0.00198382 0 0 PTPRB 5787 broad.mit.edu 37 12 70983891 70983891 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:70983891C>A ENST00000334414.6 - 8 1947 c.1903G>T c.(1903-1905)Gtg>Ttg p.V635L PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000538708.1_Missense_Mutation_p.V417L|PTPRB_ENST00000261266.5_Missense_Mutation_p.V417L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.V634L|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.V635L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 417 Fibronectin type-III 7. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCAGCACCACAGAATCATTG 0.512000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 78 2.43468e-25 8.89918e-25 0.00361006 1 0 SLC2A6 11182 broad.mit.edu 37 9 136338606 136338606 + Nonsense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:136338606G>A ENST00000371899.4 - 8 1230 c.1153C>T c.(1153-1155)Cag>Tag p.Q385* SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 385 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GCCAGGGGCTGCGCCAAGTCC 0.662000 8 20 0 0 0.00307968 0 0 MIIP 60672 broad.mit.edu 37 1 12081875 12081875 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:12081875C>T ENST00000235332.4 + 2 261 c.92C>T c.(91-93)tCa>tTa p.S31L MIIP_ENST00000436478.2_Missense_Mutation_p.S31L NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 31 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GTGCGGCGGTCAGTGGCCAGG 0.662000 5 27 0 0 0.00116845 0 0 RWDD3 25950 broad.mit.edu 37 1 95710106 95710106 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:95710106C>G ENST00000429514.2 + 3 586 c.380C>G c.(379-381)aCt>aGt p.T127S RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000370202.4_Missense_Mutation_p.T142S|RWDD3_ENST00000263893.6_Missense_Mutation_p.T142S Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 142 cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) TTGTGGATAACTCTTTTGCAT 0.418000 12 59 0 0 0.000978159 0 0 ZNF225 7768 broad.mit.edu 37 19 44636171 44636171 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:44636171C>T ENST00000262894.6 + 5 1684 c.1404C>T c.(1402-1404)gcC>gcT p.A468A ZNF225_ENST00000590612.1_Silent_p.A468A|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TTGGCTGGGCCTCGTGTCTTT 0.418000 27 34 0 0 0.000720815 0 0 GTPBP4 23560 broad.mit.edu 37 10 1038576 1038576 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:1038576C>G ENST00000360803.4 + 2 278 c.196C>G c.(196-198)Cta>Gta p.L66V GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.L19V|GTPBP4_ENST00000538293.1_5'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 66 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTCACAAATTCTAACAGATTT 0.348000 15 24 0 0 0.00316338 0 0 SLC47A2 146802 broad.mit.edu 37 17 19583338 19583338 + Silent SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:19583338T>G ENST00000350657.5 - 17 1623 c.1449A>C c.(1447-1449)tcA>tcC p.S483S SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.S505S NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 505 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GCTGCCGGCCTGAATGTTTCT 0.498000 14 24 0 0 0.00244969 0 0 PHC3 80012 broad.mit.edu 37 3 169824653 169824653 + Nonsense_Mutation SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:169824653G>T ENST00000494943.1 - 12 2467 c.2399C>A c.(2398-2400)tCa>tAa p.S800* PHC3_ENST00000495893.1_Nonsense_Mutation_p.S812*|PHC3_ENST00000467570.1_Nonsense_Mutation_p.S759* Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 800 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAATCGTTTTGACCGCAAAAA 0.373000 13 124 9.31168e-06 3.13345e-05 0.00185496 1 0 OR1L4 254973 broad.mit.edu 37 9 125486501 125486501 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:125486501T>C ENST00000259466.1 + 1 233 c.233T>C c.(232-234)aTa>aCa p.I78T NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 ACAACAGTCATAGTGCCTAAG 0.443000 34 100 0 0 0.00327116 0 0 ABR 29 broad.mit.edu 37 17 1028581 1028581 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:1028581G>A ENST00000544583.2 - 2 644 c.45C>T c.(43-45)agC>agT p.S15S ABR_ENST00000302538.5_Silent_p.S61S|ABR_ENST00000574437.1_Silent_p.S15S NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 61 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGCTGCGGGCGCTGAGCTGCG 0.662000 33 70 0 0 0.00283554 0 0 TMEM194A 23306 broad.mit.edu 37 12 57457026 57457026 + Silent SNP G G A rs148717635 byFrequency TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:57457026G>A ENST00000300128.4 - 7 879 c.856C>T c.(856-858)Ctg>Ttg p.L286L TMEM194A_ENST00000379391.3_Silent_p.L213L NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 286 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 AGGCCCATCAGCTGCAAGGTC 0.443000 52 81 0 0 0.00361006 0 0 SAMD11 148398 broad.mit.edu 37 1 866467 866467 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:866467C>T ENST00000342066.3 + 4 386 c.303C>T c.(301-303)tgC>tgT p.C101C NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 101 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) AGGCGTCCTGCAGGTAGGAGC 0.637000 21 31 0 0 0.00188189 0 0 OLFM4 10562 broad.mit.edu 37 13 53624472 53624472 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr13:53624472G>A ENST00000219022.2 + 5 1177 c.1099G>A c.(1099-1101)Gct>Act p.A367T NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 367 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TCTCCCTAATGCTGCCTATAA 0.408000 32 46 0 0 0.0024448 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532706 84532706 + RNA SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:84532706T>A ENST00000527857.1 + 0 2728 NR_026851.1 TTTCCTTCCTTAGTTCCAACA 0.433000 12 35 0 0 0.000978159 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995517 57995517 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:57995517G>A ENST00000316770.2 - 1 873 c.831C>T c.(829-831)agC>agT p.S277S NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) ACGCGATTTGGCTGTCCTCAT 0.557000 28 60 0 0 0.00127121 0 0 KALRN 8997 broad.mit.edu 37 3 124211627 124211627 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:124211627T>A ENST00000360013.3 + 32 4851 c.4724T>A c.(4723-4725)aTt>aAt p.I1575N KALRN_ENST00000460856.1_Missense_Mutation_p.I1566N|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1575 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATCAAGAACATTCGAGAAGTG 0.463000 24 46 0 0 0.00229938 0 0 M1AP 130951 broad.mit.edu 37 2 74802648 74802648 + Nonsense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:74802648T>A ENST00000290536.5 - 7 1107 c.991A>T c.(991-993)Aga>Tga p.R331* M1AP_ENST00000409585.1_Nonsense_Mutation_p.R331*|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Nonsense_Mutation_p.R49*|M1AP_ENST00000536235.1_Nonsense_Mutation_p.R331* NM_138804.3 NP_620159.2 meiosis 1 associated protein CTTGTAGGTCTGAGGATGAAC 0.483000 40 64 0 0 0.00148497 0 0 SLC6A18 348932 broad.mit.edu 37 5 1244337 1244337 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:1244337T>C ENST00000324642.3 + 10 1468 c.1345T>C c.(1345-1347)Tgc>Cgc p.C449R SLC6A18_ENST00000296821.4_Intron NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 449 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGGGCTGGTCTGCCTGGTCTG 0.627000 26 37 0 0 0.00395357 0 0 MUC16 94025 broad.mit.edu 37 19 9046408 9046408 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:9046408C>T ENST00000397910.4 - 5 35426 c.35223G>A c.(35221-35223)gaG>gaA p.E11741E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11743 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGTCACCATCTCTGGTGCAC 0.493000 44 52 0 0 0.00195071 0 0 CENPT 80152 broad.mit.edu 37 16 67865170 67865170 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr16:67865170C>T ENST00000562787.1 - 10 1200 c.652G>A c.(652-654)Gac>Aac p.D218N CENPT_ENST00000219172.3_Missense_Mutation_p.D218N|CENPT_ENST00000564817.1_Missense_Mutation_p.D218N|CENPT_ENST00000440851.2_Missense_Mutation_p.D218N|CENPT_ENST00000445712.2_Missense_Mutation_p.D115N|CENPT_ENST00000562947.1_5'UTR NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 218 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GCACCCACGTCTACAGCTCGG 0.607000 37 31 0 0 0.00428921 0 0 PDGFD 80310 broad.mit.edu 37 11 103780424 103780424 + Nonstop_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:103780424A>T ENST00000302251.5 - 7 1544 c.1093T>A c.(1093-1095)Taa>Aaa p.*365K PDGFD_ENST00000393158.2_Nonstop_Mutation_p.*371K NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 0 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) ACATTCTCTTATCGAGGTGGT 0.443000 10 68 0 0 0.000978159 0 0 ZNF107 51427 broad.mit.edu 37 7 64166764 64166764 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:64166764A>G ENST00000395391.1 + 4 1457 c.82A>G c.(82-84)Aaa>Gaa p.K28E ZNF107_ENST00000344930.3_Missense_Mutation_p.K28E|ZNF107_ENST00000423627.1_Missense_Mutation_p.K28E Q9UII5 ZN107_HUMAN zinc finger protein 107 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TTCTTTCCAGAAAGTGACACT 0.363000 26 25 0 0 0.00209593 0 0 ALK 238 broad.mit.edu 37 2 29456487 29456487 + Missense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:29456487C>A ENST00000389048.3 - 14 3337 c.2431G>T c.(2431-2433)Gtg>Ttg p.V811L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 811 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.V811M(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CACTCATGCACGCTTCTGTTC 0.488000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 35 61 1.26612e-14 4.51121e-14 0.00327116 1 0 AGTR1 185 broad.mit.edu 37 3 148458977 148458977 + Missense_Mutation SNP T T C rs150629733 byFrequency TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:148458977T>C ENST00000542281.1 + 4 601 c.155T>C c.(154-156)gTc>gCc p.V52A AGTR1_ENST00000418473.2_Missense_Mutation_p.V52A|AGTR1_ENST00000349243.3_Missense_Mutation_p.V52A|AGTR1_ENST00000402260.1_Missense_Mutation_p.V52A|AGTR1_ENST00000497524.1_Missense_Mutation_p.V52A|AGTR1_ENST00000461609.1_Missense_Mutation_p.V52A|AGTR1_ENST00000475347.1_Missense_Mutation_p.V52A|AGTR1_ENST00000474935.1_Missense_Mutation_p.V52A|AGTR1_ENST00000404754.2_Missense_Mutation_p.V52A NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 52 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GTGGTGATAGTCATTTACTTT 0.378000 20 73 0 0 0.00121646 0 0 IL11RA 3590 broad.mit.edu 37 9 34655639 34655639 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:34655639G>A ENST00000555003.1 + 3 1494 c.138G>A c.(136-138)ctG>ctA p.L46L IL11RA_ENST00000602473.1_Silent_p.L46L|IL11RA_ENST00000441545.2_Silent_p.L46L|IL11RA_ENST00000478802.2_3'UTR|GALT_ENST00000556278.1_Silent_p.L190L|IL11RA_ENST00000378817.4_Silent_p.L46L|IL11RA_ENST00000318041.9_Silent_p.L46L Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 46 Ig-like C2-type. integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CCGTGAAGCTGTGTTGTCCTG 0.582000 10 12 0 0 0.000673444 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221396 20221396 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr13:20221396G>A ENST00000361479.5 + 3 1251 c.1183G>A c.(1183-1185)Gag>Aag p.E395K MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E395K NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 395 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GAGCGGGGAAGAGAGAGGCCT 0.542000 5 48 0 0 0.000602214 0 0 TMEFF2 23671 broad.mit.edu 37 2 193049123 193049123 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:193049123C>T ENST00000409056.3 - 3 368 c.369G>A c.(367-369)caG>caA p.Q123Q TMEFF2_ENST00000392314.1_Silent_p.Q123Q|TMEFF2_ENST00000272771.5_Silent_p.Q123Q Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 123 Kazal-like 1. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TCTCACTCTGCTGTTTGCATG 0.473000 25 43 0 0 0.00395357 0 0 C4orf29 80167 broad.mit.edu 37 4 128951815 128951815 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:128951815A>T ENST00000388795.5 + 12 1488 c.1085A>T c.(1084-1086)cAa>cTa p.Q362L C4orf29_ENST00000444616.1_Missense_Mutation_p.Q410L|C4orf29_ENST00000398965.1_Missense_Mutation_p.Q410L Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 410 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CTTTTTAAACAAGGACTCTTC 0.353000 25 36 0 0 0.000720815 0 0 ABCB7 22 broad.mit.edu 37 X 74288843 74288843 + Splice_Site SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:74288843T>C ENST00000253577.3 - 12 1685 c.1662_splice c.e12+1 p.Q554_splice ABCB7_ENST00000339447.4_Splice_Site_p.Q513_splice|ABCB7_ENST00000373394.3_Splice_Site_p.Q553_splice|ABCB7_ENST00000534570.1_5'UTR NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 553 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TTTAAATACCTGAGGTACCAC 0.403000 3 73 0 0 0.00024832 0 0 VSIG2 23584 broad.mit.edu 37 11 124618415 124618415 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:124618415C>G ENST00000403470.1 - 6 777 c.722G>C c.(721-723)cGa>cCa p.R241P VSIG2_ENST00000326621.5_Missense_Mutation_p.R241P Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 241 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TCCGGCCACTCGGCCTTGGGA 0.607000 25 13 0 0 0.00278032 0 0 THAP6 152815 broad.mit.edu 37 4 76442145 76442145 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr4:76442145C>T ENST00000311638.3 + 3 312 c.244C>T c.(244-246)Cct>Tct p.P82S THAP6_ENST00000514480.1_Missense_Mutation_p.P82S|THAP6_ENST00000504190.1_Missense_Mutation_p.P41S|THAP6_ENST00000507885.1_Missense_Mutation_p.P41S|THAP6_ENST00000507557.1_Missense_Mutation_p.P41S|THAP6_ENST00000502620.1_Missense_Mutation_p.P41S|THAP6_ENST00000508105.1_Missense_Mutation_p.P41S|THAP6_ENST00000507556.1_Missense_Mutation_p.P82S|THAP6_ENST00000380837.3_Missense_Mutation_p.P82S NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 82 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TAAACTGAAACCTGGAGTCAT 0.363000 5 33 0 0 0.00307968 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529787 80529787 + Silent SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:80529787G>T ENST00000295057.3 - 2 1814 c.1158C>A c.(1156-1158)ccC>ccA p.P386P CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P386P|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 386 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AGCTGGCAGGGGGCCCCAGAT 0.726000 HNSCC(69;0.2) 9 20 9.70103e-10 3.31713e-09 0.000673444 1 0 CHDH 55349 broad.mit.edu 37 3 53854579 53854579 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:53854579G>A ENST00000315251.5 - 6 1479 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 348 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GTGATAGGGCGGGTGCATGCC 0.557000 18 72 0 0 0.00121646 0 0 TMLHE 55217 broad.mit.edu 37 X 154736595 154736595 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chrX:154736595T>C ENST00000334398.3 - 6 1104 c.959A>G c.(958-960)aAt>aGt p.N320S TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.N320S NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 320 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) TGGGTAGATATTTAAGACTGG 0.373000 70 14 0 0 0.00361006 0 0 KCNS3 3790 broad.mit.edu 37 2 18112633 18112633 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:18112633C>T ENST00000403915.1 + 3 809 c.358C>T c.(358-360)Cgc>Tgc p.R120C KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 120 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.R120C(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAGCAATCGCTACCAGGA 0.507000 15 78 0 0 0.00316338 0 0 SGPL1 8879 broad.mit.edu 37 10 72610941 72610941 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:72610941A>T ENST00000373202.3 + 4 435 c.235A>T c.(235-237)Agg>Tgg p.R79W NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 79 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TAAGCTCACCAGGAAGATGCC 0.328000 28 45 0 0 0.00209593 0 0 HSPA1A 3303 broad.mit.edu 37 6 31785354 31785354 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr6:31785354C>T ENST00000375651.5 + 1 2064 c.1821C>T c.(1819-1821)atC>atT p.I607I HSPA1A_ENST00000458062.2_Silent_p.I516I NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 607 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 ACCCCATCATCAGCGGACTGT 0.632000 30 82 0 0 0.00111076 0 0 SMC3 9126 broad.mit.edu 37 10 112363045 112363045 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:112363045T>A ENST00000361804.4 + 28 3705 c.3579T>A c.(3577-3579)aaT>aaA p.N1193K NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1193 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGTTCAGAAATAAGGTAATTT 0.279000 10 18 0 0 0.000673444 0 0 ZNF345 25850 broad.mit.edu 37 19 37368948 37368948 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:37368948T>G ENST00000529555.1 + 2 2004 c.1216T>G c.(1216-1218)Tcc>Gcc p.S406A ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.S406A|ZNF345_ENST00000420450.1_Missense_Mutation_p.S406A Q14585 ZN345_HUMAN zinc finger protein 345 406 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTGGAAAGTCCTTTAGTAG 0.433000 8 42 0 0 0.00185496 0 0 NXPH3 11248 broad.mit.edu 37 17 47656378 47656378 + Nonsense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:47656378C>T ENST00000328741.5 + 2 837 c.475C>T c.(475-477)Cag>Tag p.Q159* NXPH3_ENST00000513748.1_Nonsense_Mutation_p.Q159* NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 159 IV (linker domain). neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) AGAGTTCCACCAGGAACAGCA 0.567000 5 77 0 0 0.00116845 0 0 PLSCR1 5359 broad.mit.edu 37 3 146251261 146251261 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:146251261G>C ENST00000342435.4 - 3 500 c.90C>G c.(88-90)ttC>ttG p.F30L PLSCR1_ENST00000448787.2_Missense_Mutation_p.S22C|PLSCR1_ENST00000487389.1_Missense_Mutation_p.F23L|PLSCR1_ENST00000448205.1_5'UTR NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 30 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 CTTTACCTTGGAATGCTGTCG 0.428000 24 92 0 0 0.00395357 0 0 SH3RF3 344558 broad.mit.edu 37 2 110015122 110015122 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:110015122T>G ENST00000309415.6 + 4 1022 c.1022T>G c.(1021-1023)cTg>cGg p.L341R NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 341 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 AATGCCTCCCTGCCCTCTGAC 0.617000 3 7 0 0 6.4e-05 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237238 140237238 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:140237238C>T ENST00000307360.5 + 1 1605 c.1605C>T c.(1603-1605)agC>agT p.S535S PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGTGAGCGCGCGCGATG 0.682000 54 39 0 0 0.00361006 0 0 XPOT 11260 broad.mit.edu 37 12 64828639 64828639 + Missense_Mutation SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:64828639C>G ENST00000332707.5 + 21 3164 c.2635C>G c.(2635-2637)Cta>Gta p.L879V NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 879 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CGCATGTTTCCTAGCACCTTT 0.378000 36 59 0 0 0.00148497 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794780 176794780 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:176794780G>A ENST00000272748.4 - 13 1449 c.1202C>T c.(1201-1203)tCa>tTa p.S401L KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.S432L NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 401 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TTCAATCACTGAGGCTTCCTC 0.438000 35 59 0 0 0.00327116 0 0 SMURF1 57154 broad.mit.edu 37 7 98638089 98638089 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:98638089A>G ENST00000361125.1 - 14 1859 c.1540T>C c.(1540-1542)Ttc>Ctc p.F514L AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.F488L NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 514 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TGCTTGTAGAAGGGCACTGTG 0.542000 OREG0018189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 55 0 0 0.00361006 0 0 TRBC2 28638 broad.mit.edu 37 7 142499762 142499762 + RNA SNP A A G rs706 by1000genomes TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:142499762A>G ENST00000466254.1 + 0 405 GTGCACAGGTACCTACATGCT 0.542000 3 73 0 0 6.4e-05 0 0 DNAH10 196385 broad.mit.edu 37 12 124270320 124270320 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:124270320G>A ENST00000409039.3 + 9 1100 c.1075G>A c.(1075-1077)Gtg>Atg p.V359M NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 359 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGCTTCCACGTGGTCCTGGA 0.537000 23 46 0 0 0.00278032 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716358 50716358 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:50716358A>G ENST00000449103.1 - 32 5112 c.4972T>C c.(4972-4974)Ttc>Ctc p.F1658L PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1658L O15031 PLXB2_HUMAN plexin B2 1658 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGAAGTCGAAGAAGTACTTG 0.602000 29 45 0 0 0.00106085 0 0 ZNF233 353355 broad.mit.edu 37 19 44777755 44777755 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:44777755T>C ENST00000391958.2 + 5 1069 c.942T>C c.(940-942)taT>taC p.Y314Y ZNF233_ENST00000334152.1_Silent_p.Y296Y|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) AGAAATGCTATAGGAATGGTG 0.488000 22 29 0 0 0.00229938 0 0 EPS15L1 58513 broad.mit.edu 37 19 16514739 16514739 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:16514739G>C ENST00000602009.1 - 9 1864 c.969C>G c.(967-969)atC>atG p.I323M EPS15L1_ENST00000535753.2_Missense_Mutation_p.I477M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I477M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.I477M Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 477 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 TCAGTGATGAGATCTGAAATG 0.458000 13 21 0 0 0.00136819 0 0 USP48 84196 broad.mit.edu 37 1 22030033 22030033 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:22030033T>A ENST00000308271.9 - 21 3242 c.2594A>T c.(2593-2595)tAt>tTt p.Y865F USP48_ENST00000374732.3_Missense_Mutation_p.Y403F|USP48_ENST00000400301.1_Missense_Mutation_p.Y865F|USP48_ENST00000529637.1_Missense_Mutation_p.Y877F NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 865 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTTATGGACATAGATGGTGGC 0.428000 65 126 0 0 0.00361006 0 0 LYST 1130 broad.mit.edu 37 1 235860530 235860530 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:235860530C>T ENST00000389794.3 - 46 10591 c.10417G>A c.(10417-10419)Gtg>Atg p.V3473M LYST_ENST00000389793.2_Missense_Mutation_p.V3473M|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3473 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGGGAACCCACGTATTCCCCC 0.468000 50 13 0 0 0.00361006 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692054 31692054 + Silent SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr21:31692054A>G ENST00000360542.3 - 1 553 c.300T>C c.(298-300)gcT>gcC p.A100A NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 100 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 AGAAGAAAGAAGCAGGAAGAA 0.542000 25 74 0 0 0.00332997 0 0 STT3A 3703 broad.mit.edu 37 11 125479465 125479465 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:125479465C>T ENST00000392708.4 + 10 1257 c.1098C>T c.(1096-1098)ctC>ctT p.L366L STT3A_ENST00000529196.1_Silent_p.L366L|STT3A_ENST00000531491.1_Silent_p.L274L NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 366 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) ACCTGCAGCTCCTCGTCTTCA 0.453000 37 31 0 0 0.00111076 0 0 AJUBA 84962 broad.mit.edu 37 14 23447583 23447583 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr14:23447583G>A ENST00000262713.2 - 2 1453 c.1078C>T c.(1078-1080)Cac>Tac p.H360Y AJUBA_ENST00000361265.4_Missense_Mutation_p.H360Y|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 360 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CACTGGGTGTGGTAGAGGCTG 0.527000 77 24 0 0 0.00361006 0 0 TRHR 7201 broad.mit.edu 37 8 110100298 110100298 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:110100298A>T ENST00000518632.1 + 2 908 c.557A>T c.(556-558)aAt>aTt p.N186I TRHR_ENST00000311762.2_Missense_Mutation_p.N186I P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 186 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ATCTCCAGGAATTACTACTCA 0.403000 14 51 0 0 0.00244969 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 13 0 0 0.000720815 0 0 DISP1 84976 broad.mit.edu 37 1 223179194 223179194 + Silent SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:223179194A>G ENST00000284476.6 + 8 4619 c.4455A>G c.(4453-4455)agA>agG p.R1485R NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1485 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GTTGTGGCAGAATTGTGAGAG 0.408000 12 61 0 0 0.00185496 0 0 COL11A1 1301 broad.mit.edu 37 1 103345461 103345461 + Missense_Mutation SNP T T A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:103345461T>A ENST00000358392.2 - 66 5405 c.5088A>T c.(5086-5088)ttA>ttT p.L1696F COL11A1_ENST00000370096.3_Missense_Mutation_p.L1684F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1645F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1568F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1684 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTCAACATCTAAGTATGAAA 0.378000 11 23 0 0 0.000673444 0 0 SLC4A2 6522 broad.mit.edu 37 7 150771897 150771897 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:150771897A>G ENST00000485713.1 + 19 4056 c.3016A>G c.(3016-3018)Att>Gtt p.I1006V SLC4A2_ENST00000392826.2_Missense_Mutation_p.I997V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I992V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1006V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.I924V|RP11-148K1.12_ENST00000485974.1_RNA NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1006 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGGTCTTCATTCTCATCTT 0.597000 10 15 0 0 0.000673444 0 0 GRIP1 23426 broad.mit.edu 37 12 66932903 66932903 + Nonsense_Mutation SNP C C A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:66932903C>A ENST00000359742.4 - 4 613 c.373G>T c.(373-375)Gga>Tga p.G125* GRIP1_ENST00000398016.3_Nonsense_Mutation_p.G125*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.G125* Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 125 PDZ 1. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ACTCTTTCTCCCACATTCTTC 0.498000 41 89 6.48837e-15 2.33141e-14 0.0025221 1 0 PRKG1 5592 broad.mit.edu 37 10 54040637 54040637 + Missense_Mutation SNP A A G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:54040637A>G ENST00000373980.4 + 13 1909 c.1492A>G c.(1492-1494)Agg>Ggg p.R498G PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R201G|PRKG1_ENST00000401604.2_Missense_Mutation_p.R483G|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R471G NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 483 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AATCATTTACAGGGACCTCAA 0.423000 3 82 0 0 6.4e-05 0 0 KMT2C 58508 broad.mit.edu 37 7 151945031 151945031 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr7:151945031T>C ENST00000355193.2 - 14 2706 c.2488A>G c.(2488-2490)Att>Gtt p.I830V KMT2C_ENST00000262189.6_Missense_Mutation_p.I830V lysine (K)-specific methyltransferase 2C CTCTTAGTAATAGCTGGTTTA 0.383000 8 167 0 0 0.000673444 0 0 CCNE2 9134 broad.mit.edu 37 8 95897779 95897779 + Missense_Mutation SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr8:95897779T>C ENST00000520509.1 - 8 860 c.608A>G c.(607-609)tAt>tGt p.Y203C CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.Y203C|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y203C O96020 CCNE2_HUMAN cyclin E2 203 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTTAGGAGCATAGATTTCCTT 0.318000 26 31 0 0 0.000878237 0 0 RSF1 51773 broad.mit.edu 37 11 77411780 77411780 + Missense_Mutation SNP A A C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr11:77411780A>C ENST00000308488.6 - 6 2796 c.2494T>G c.(2494-2496)Tct>Gct p.S832A RSF1_ENST00000360355.2_Missense_Mutation_p.S801A|RSF1_ENST00000480887.1_Missense_Mutation_p.S580A Q96T23 RSF1_HUMAN remodeling and spacing factor 1 832 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTTACTTTAGAATTTGTATCT 0.284000 24 16 0 0 0.00229938 0 0 SLC2A6 11182 broad.mit.edu 37 9 136338607 136338607 + Silent SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:136338607C>T ENST00000371899.4 - 8 1229 c.1152G>A c.(1150-1152)gcG>gcA p.A384A SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 384 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CCAGGGGCTGCGCCAAGTCCC 0.662000 8 20 0 0 0.00307968 0 0 ABCC12 94160 broad.mit.edu 37 16 48174830 48174830 + Splice_Site SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr16:48174830G>A ENST00000416054.1 - 4 430 c.423_splice c.e4-1 p.T142_splice ABCC12_ENST00000448542.1_Splice_Site_p.T142_splice|ABCC12_ENST00000311303.3_Intron Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 142 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) AATGAGAACTGTCTGTAAAAC 0.527000 9 29 0 0 0.000274275 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113664258 113664258 + Missense_Mutation SNP T T G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr3:113664258T>G ENST00000358160.4 + 18 2414 c.1922T>G c.(1921-1923)cTc>cGc p.L641R GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.L474R|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.L370R|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.L436R NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 641 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AAGAGCTCACTCATTATGCTT 0.323000 24 50 0 0 0.000720815 0 0 COLEC11 78989 broad.mit.edu 37 2 3691423 3691423 + Silent SNP G G T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr2:3691423G>T ENST00000403096.3 + 6 944 c.453G>T c.(451-453)ctG>ctT p.L151L COLEC11_ENST00000418971.2_Silent_p.L191L|COLEC11_ENST00000402794.1_Silent_p.L127L|COLEC11_ENST00000402922.1_Silent_p.L127L|COLEC11_ENST00000382062.2_Silent_p.L153L|COLEC11_ENST00000349077.4_Silent_p.L177L|COLEC11_ENST00000236693.7_Silent_p.L174L|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.L103L NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 177 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GGGGCACGCTGAGCATGCCCA 0.667000 19 26 1.01871e-10 3.54044e-10 0.00121646 1 0 EIF2AK4 440275 broad.mit.edu 37 15 40295429 40295429 + Nonsense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr15:40295429C>T ENST00000263791.5 + 23 3314 c.3271C>T c.(3271-3273)Cga>Tga p.R1091* EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.R1063* NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1091 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACTGCTTCCCCGAAACAGACA 0.473000 19 41 0 0 0.000958276 0 0 AC005609.1 0 broad.mit.edu 37 5 140242781 140242781 + Silent SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:140242781G>A ENST00000502505.1 - 1 443 c.195C>T c.(193-195)agC>agT p.S65S PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron TGGTGGCGTCGCTGGCGGAGA 0.672000 12 6 0 0 0.000978159 0 0 NAPB 63908 broad.mit.edu 37 20 23401954 23401954 + Missense_Mutation SNP C C T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr20:23401954C>T ENST00000377026.4 - 1 171 c.86G>A c.(85-87)cGa>cAa p.R29Q NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R29Q NM_022080.2 NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta 29 intracellular protein transport|vesicle-mediated transport membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) AAACAGCCCTCGGAGGAAGGA 0.697000 4 7 0 0 0.00024832 0 0 C5orf34 375444 broad.mit.edu 37 5 43506112 43506112 + Missense_Mutation SNP G G C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:43506112G>C ENST00000306862.2 - 4 1045 c.670C>G c.(670-672)Ctg>Gtg p.L224V RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 224 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) GGCGAAGGCAGCTCTTCCCTC 0.423000 50 88 0 0 0.00361006 0 0 DCAF6 55827 broad.mit.edu 37 1 167973999 167973999 + Missense_Mutation SNP A A T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:167973999A>T ENST00000367840.3 + 10 1440 c.1346A>T c.(1345-1347)gAg>gTg p.E449V DCAF6_ENST00000432587.2_Missense_Mutation_p.E418V|DCAF6_ENST00000367843.3_Missense_Mutation_p.E449V|DCAF6_ENST00000312263.6_Missense_Mutation_p.E449V NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 449 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CAGTCTGTTGAGGCATCTGGA 0.423000 36 14 0 0 0.00111076 0 0 ZNF366 167465 broad.mit.edu 37 5 71756463 71756463 + Silent SNP C C G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr5:71756463C>G ENST00000318442.5 - 2 1351 c.861G>C c.(859-861)ggG>ggC p.G287G NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGAAGAGCTTCCCGCAGTGCG 0.627000 23 50 0 0 0.00332997 0 0 ZNF345 25850 broad.mit.edu 37 19 37368870 37368870 + Missense_Mutation SNP G G A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:37368870G>A ENST00000529555.1 + 2 1926 c.1138G>A c.(1138-1140)Ggt>Agt p.G380S ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.G380S|ZNF345_ENST00000420450.1_Missense_Mutation_p.G380S Q14585 ZN345_HUMAN zinc finger protein 345 380 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGGCCTTTGGTAGTGGCTC 0.418000 14 50 0 0 0.00185496 0 0 CPT2 1376 broad.mit.edu 37 1 53676319 53676319 + Frame_Shift_Del DEL C C - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:53676319delC ENST00000371486.3 + 4 1488 c.973delC c.(973-975)tcfs p.L325fs RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 325 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) AGTGTTCTGTCTCTGCCTAGA 0.512 28 50 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 10 10 --- --- --- --- SURF2 6835 broad.mit.edu 37 9 136227265 136227266 + Frame_Shift_Del DEL GA GA - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr9:136227265_136227266delGA ENST00000371964.4 + 5 683_684 c.642_643delGA c.(640-645)aggafs p.RR214fs NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 214 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) ATGAGAGCAGGAGAGAGACGAC 0.554 9 29 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895904 124895904 + Frame_Shift_Del DEL C C - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr10:124895904delC ENST00000357878.5 + 1 427 c.338delC c.(337-339)tcfs p.S113fs NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 113 cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) CTGGAGCGCTCCCCAGCCTGG 0.687 2 4 --- --- --- --- RP11-1060J15.4 0 broad.mit.edu 37 12 27855780 27855781 + RNA INS - - A TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:27855780_27855781insA ENST00000536317.1 - 0 519 RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA TGCCAAGGCTGAaaaaaaaaga 0.396 2 4 --- --- --- --- LOC100507250 100507250 broad.mit.edu 37 12 69078745 69078745 + RNA DEL A A - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr12:69078745delA ENST00000500695.2 - 0 282 NR_038930.1 aataaaaCACATGAAGGAATT 0.463 2 4 --- --- --- --- ZNF737 100129842 broad.mit.edu 37 19 20728437 20728437 + Frame_Shift_Del DEL T T - TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr19:20728437delT ENST00000427401.4 - 4 666 c.572delA c.(571-573)ctfs p.H191fs NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 191 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AATTTTCTTATGTGTAGTAAG 0.358 12 29 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21138419 21138420 + Frame_Shift_Ins INS - - G TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:21138419_21138420insG ENST00000215727.5 + 3 1332_1333 c.1049_1050insG c.(1048-1050)gggfs p.G350fs PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATCA 0.540 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 72 --- --- --- --- MEI1 150365 broad.mit.edu 37 22 42191530 42191531 + Frame_Shift_Ins INS - - T TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6c96b8-958e-4235-9673-8bf4ce0e6b38 9cf2fe5e-2262-4970-892a-5c0e5571a4d6 g.chr22:42191530_42191531insT ENST00000401548.3 + 29 3690_3691 c.3650_3651insT c.(3649-3651)cggfs p.R1217fs MEI1_ENST00000300398.4_Intron|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.R550fs|MEI1_ENST00000476893.1_3'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1217 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGGCCCTGCATGGCTTCTTCC 0.574 23 36 --- --- --- ---