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 NEDD1 121441 broad.mit.edu 37 12 97303606 97303606 + Silent SNP A A C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr12:97303606A>C ENST00000266742.4 + 3 408 c.69A>C c.(67-69)acA>acC p.T23T NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_Silent_p.T23T|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Silent_p.T30T NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 23 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 CATCTATGACATTGGTGGATA 0.363000 23 72 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30087726 30087726 + Nonsense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:30087726C>T ENST00000279387.7 + 2 196 c.28C>T c.(28-30)Cag>Tag p.Q10* PPP4C_ENST00000561610.1_Nonsense_Mutation_p.Q10* NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 10 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 CCTGGACCGGCAGATCGAGCA 0.701000 12 35 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101095849 101095849 + Missense_Mutation SNP C C G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:101095849C>G ENST00000376865.1 + 6 303 c.296C>G c.(295-297)gCc>gGc p.A99G NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 99 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CACCTGGCTGCCAAGCTCGCC 0.527000 18 62 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48062769 48062769 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr15:48062769C>A ENST00000316364.5 + 19 2448 c.2009C>A c.(2008-2010)gCt>gAt p.A670D SEMA6D_ENST00000536845.2_Missense_Mutation_p.A670D|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A651D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A627D|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A608D|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A614D|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A595D|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A608D|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A608D NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 670 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGTGTCTTTGCTGCTTTTGTT 0.458000 27 118 9.04412e-07 9.77743e-07 1 1 0 VCAN 1462 broad.mit.edu 37 5 82786059 82786059 + Silent SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr5:82786059G>T ENST00000265077.3 + 3 778 c.213G>T c.(211-213)gtG>gtT p.V71V VCAN_ENST00000343200.5_Silent_p.V71V|VCAN_ENST00000342785.4_Silent_p.V71V|VCAN_ENST00000513984.1_Silent_p.V71V|VCAN_ENST00000512590.2_Silent_p.V23V|VCAN_ENST00000502527.2_Silent_p.V71V NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 71 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGATTGAAGTGGACAAAAATG 0.423000 26 78 4.22769e-11 5.12448e-11 1 1 0 TAOK1 57551 broad.mit.edu 37 17 27809235 27809235 + Nonsense_Mutation SNP T T G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr17:27809235T>G ENST00000261716.3 + 8 1103 c.584T>G c.(583-585)tTa>tGa p.L195* TAOK1_ENST00000536202.1_Nonsense_Mutation_p.L195* NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 195 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GAAGTAATTTTAGCCATGGAT 0.318000 45 163 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41133698 41133698 + Silent SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr19:41133698C>A ENST00000308370.7 + 33 4653 c.4653C>A c.(4651-4653)ccC>ccA p.P1551P LTBP4_ENST00000396819.3_Silent_p.P1484P|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1514P NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1552 EGF-like 15. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCGCGTCCCCGAAGGCTTCA 0.692000 2 3 0.0784 0.0784 1 1 0 PSMB9 5698 broad.mit.edu 37 6 32825852 32825852 + Silent SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr6:32825852C>A ENST00000395330.1 + 4 410 c.262C>A c.(262-264)Cga>Aga p.R88R PSMB9_ENST00000453265.2_Silent_p.R67R|PSMB9_ENST00000374859.2_Silent_p.R111R P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 111 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity p.R111*(1) large_intestine(4)|lung(4)|skin(1) 9 CTATAAATATCGAGAGGACTT 0.473000 40 59 2.46787e-29 3.18435e-29 1 1 0 OSBPL6 114880 broad.mit.edu 37 2 179248839 179248839 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:179248839C>A ENST00000190611.4 + 18 2325 c.1949C>A c.(1948-1950)cCa>cAa p.P650Q OSBPL6_ENST00000392505.2_Missense_Mutation_p.P675Q|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P614Q|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P614Q|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P654Q|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P619Q NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 650 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCATTCAACCCAGTCCTTGGG 0.443000 12 337 6.72482e-11 8.02964e-11 1 1 0 LRIG3 121227 broad.mit.edu 37 12 59266563 59266563 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr12:59266563C>T ENST00000320743.3 - 19 3437 c.3151G>A c.(3151-3153)Gat>Aat p.D1051N LRIG3_ENST00000379141.4_Missense_Mutation_p.D991N NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 1051 integral to membrane p.D1051N(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GAATAGGCATCTAGGTGAGGT 0.453000 T ROS1 NSCLC 8 92 0 0 1 0 0 SLC30A1 7779 broad.mit.edu 37 1 211749519 211749519 + Missense_Mutation SNP C C G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr1:211749519C>G ENST00000367001.4 - 2 864 c.735G>C c.(733-735)atG>atC p.M245I NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 245 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) AAACTCCACGCATGTTAAGTT 0.423000 5 62 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216990664 216990664 + Silent SNP C C G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:216990664C>G ENST00000392133.3 + 9 1169 c.708C>G c.(706-708)gtC>gtG p.V236V XRCC5_ENST00000392132.2_Silent_p.V236V P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 236 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AACTGTGCGTCTTCAAGAAAA 0.373000 Non-homologous end-joining 7 113 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9922278 9922278 + Missense_Mutation SNP G G C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr19:9922278G>C ENST00000247977.4 - 3 516 c.275C>G c.(274-276)gCt>gGt p.A92G FBXL12_ENST00000586469.1_Missense_Mutation_p.L68V|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.A39G|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.A39G|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 92 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 TCTCAACAGAGCAGGGGACAA 0.647000 13 65 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 33 0 0 1 0 0 MS4A8 83661 broad.mit.edu 37 11 60468332 60468332 + Splice_Site SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr11:60468332G>A ENST00000300226.2 + 2 202 c.e2-1 NM_031457.1 NP_113645.1 membrane-spanning 4-domains, subfamily A, member 8 TTTCTTGGCAGCATGAATTCG 0.453000 5 177 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149356661 149356661 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr4:149356661G>A ENST00000355292.3 - 2 1714 c.1352C>T c.(1351-1353)cCa>cTa p.P451L NR3C2_ENST00000511528.1_Missense_Mutation_p.P451L|NR3C2_ENST00000342437.4_Missense_Mutation_p.P451L|NR3C2_ENST00000358102.3_Missense_Mutation_p.P451L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P451L|NR3C2_ENST00000512865.1_Missense_Mutation_p.P451L P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 451 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATCCATAAATGGAAACGGGTT 0.393000 15 61 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47772566 47772566 + Missense_Mutation SNP T T G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr11:47772566T>G ENST00000263773.5 - 6 820 c.808A>C c.(808-810)Agt>Cgt p.S270R FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 270 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ACCACAAAACTAGTTTCAGCA 0.338000 3 60 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55597298 55597298 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr19:55597298G>A ENST00000201647.6 + 15 1531 c.1475G>A c.(1474-1476)cGc>cAc p.R492H EPS8L1_ENST00000540810.1_Missense_Mutation_p.R428H|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R178H|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R506H|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R365H NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 492 SH3. cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TTCCAGGCCCGCAACAGCAGT 0.577000 3 55 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65423206 65423206 + Splice_Site SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chrX:65423206G>T ENST00000519389.1 + 13 2419 c.2239_splice c.e13-1 p.G747_splice HEPH_ENST00000336279.5_Splice_Site_p.G426_splice|HEPH_ENST00000441993.2_Splice_Site_p.G696_splice|HEPH_ENST00000343002.2_Splice_Site_p.G693_splice|HEPH_ENST00000374727.3_Splice_Site_p.G696_splice|HEPH_ENST00000419594.1_Splice_Site_p.G504_splice Q9BQS7 HEPH_HUMAN hephaestin 693 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CCTCCCTCAGGGACATTTGAG 0.527000 18 54 1.96292e-10 2.30932e-10 1 1 0 CDH15 1013 broad.mit.edu 37 16 89251625 89251625 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:89251625G>A ENST00000289746.2 + 5 612 c.547G>A c.(547-549)Gag>Aag p.E183K NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 183 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CGACGACCCCGAGACGGACAA 0.657000 5 14 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61304984 61304984 + Missense_Mutation SNP A A T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr18:61304984A>T ENST00000341074.5 - 8 1257 c.1142T>A c.(1141-1143)aTc>aAc p.I381N SERPINB4_ENST00000356424.6_Missense_Mutation_p.I329N NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 ATAGAAGAGGATGCTGTTGGT 0.398000 27 177 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57333290 57333290 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr1:57333290G>A ENST00000361249.3 + 2 182 c.86G>A c.(85-87)aGa>aAa p.R29K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 29 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AGGAGAGTAAGACGGGCAGCT 0.453000 42 80 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61154281 61154281 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr18:61154281C>T ENST00000382771.4 + 3 563 c.271C>T c.(271-273)Cgg>Tgg p.R91W SERPINB5_ENST00000489441.1_Missense_Mutation_p.R91W NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 91 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 ACTAATCAAGCGGCTCTACGT 0.343000 4 59 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233660930 233660930 + Splice_Site SNP A A T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:233660930A>T ENST00000373566.3 + 15 1901 c.1705_splice c.e15+1 p.Q568_splice GIGYF2_ENST00000373563.4_Splice_Site_p.Q546_splice|GIGYF2_ENST00000409451.3_Splice_Site_p.Q567_splice|GIGYF2_ENST00000409547.1_Splice_Site_p.Q546_splice|GIGYF2_ENST00000409480.1_Splice_Site_p.Q568_splice|GIGYF2_ENST00000409196.3_Splice_Site_p.Q540_splice|GIGYF2_ENST00000452341.2_Splice_Site_p.Q377_splice Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 546 GYF. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GAGAAATTCAAGGCAAGTTGT 0.368000 4 138 0 0 1 0 0 FRMD4B 23150 broad.mit.edu 37 3 69230696 69230696 + Silent SNP T T C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr3:69230696T>C ENST00000542259.1 - 22 2494 c.2043A>G c.(2041-2043)caA>caG p.Q681Q FRMD4B_ENST00000478263.1_Silent_p.Q387Q|FRMD4B_ENST00000398540.3_Silent_p.Q735Q Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 735 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CTGTGCTTGATTGGCTTGTAT 0.512000 27 81 0 0 1 0 0 CCT6A 908 broad.mit.edu 37 7 56126203 56126203 + Missense_Mutation SNP A A G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr7:56126203A>G ENST00000275603.4 + 7 1093 c.874A>G c.(874-876)Att>Gtt p.I292V CCT6A_ENST00000540286.1_Missense_Mutation_p.I261V|CCT6A_ENST00000335503.3_Missense_Mutation_p.I247V NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 292 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATTTGTTGTTATTAATCAAAA 0.274000 15 45 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18802165 18802165 + Splice_Site SNP A A T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chrX:18802165A>T ENST00000361511.4 + 12 1405 c.912_splice c.e12+1 p.K304_splice PPEF1_ENST00000543630.1_Splice_Site_p.K304_splice|PPEF1_ENST00000544635.1_Splice_Site_p.K239_splice|PPEF1_ENST00000359763.6_Splice_Site_p.K251_splice|PPEF1_ENST00000349874.5_Splice_Site_p.K304_splice NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 304 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) GAGAGGAACAAGGTAAGAAGT 0.393000 14 109 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969188 118969188 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr10:118969188C>A ENST00000334549.1 + 3 533 c.533C>A c.(532-534)tCc>tAc p.S178Y NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 178 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCCCTCCTCTCCAAGTGGTGC 0.512000 25 85 3.01185e-09 3.44211e-09 1 1 0 USP38 84640 broad.mit.edu 37 4 144109090 144109090 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr4:144109090C>T ENST00000307017.4 + 2 1300 c.794C>T c.(793-795)gCa>gTa p.A265V USP38_ENST00000510377.1_Missense_Mutation_p.A265V NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 265 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GTAAAAGATGCAAGTATGACC 0.398000 15 79 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63851657 63851657 + Missense_Mutation SNP A A G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr10:63851657A>G ENST00000279873.7 + 10 2845 c.2435A>G c.(2434-2436)aAa>aGa p.K812R ARID5B_ENST00000309334.5_Missense_Mutation_p.K569R NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 812 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GGCAAGGATAAACTCTTAGAG 0.537000 29 69 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114019 147114019 + Missense_Mutation SNP A A T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr3:147114019A>T ENST00000383075.3 - 3 820 c.308T>A c.(307-309)cTg>cAg p.L103Q ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.L153Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.L103Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.L141Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.L103Q NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 103 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GTTCACCGTCAGGTTCATGCC 0.697000 3 17 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 30 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42719377 42719377 + Missense_Mutation SNP A A C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr5:42719377A>C ENST00000230882.4 + 10 1958 c.1768A>C c.(1768-1770)Atg>Ctg p.M590L GHR_ENST00000357703.3_Missense_Mutation_p.M568L|GHR_ENST00000537449.1_Missense_Mutation_p.M403L NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 590 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGGTTCTGAGATGCCTGTCCC 0.507000 6 50 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89688723 89688723 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr4:89688723C>A ENST00000264344.5 - 13 1766 c.1559G>T c.(1558-1560)gGa>gTa p.G520V FAM13A_ENST00000513837.1_Missense_Mutation_p.G166V|FAM13A_ENST00000503556.1_Missense_Mutation_p.G180V|FAM13A_ENST00000508369.1_Missense_Mutation_p.G194V|FAM13A_ENST00000395002.2_Missense_Mutation_p.G194V|FAM13A_ENST00000511976.1_Missense_Mutation_p.G106V NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 520 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CTGAGTGTGTCCACCATCTTT 0.348000 7 59 1.12685e-05 1.18616e-05 1 1 0 CPS1 1373 broad.mit.edu 37 2 211459247 211459247 + Missense_Mutation SNP T T C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:211459247T>C ENST00000233072.5 + 12 1376 c.1180T>C c.(1180-1182)Ttt>Ctt p.F394L CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.F400L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 394 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTTTGATTCCTTTTTCTCACT 0.373000 3 43 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 203 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGTTTCGCCGCAAATGGCAA 0.433000 3 71 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38788570 38788570 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr17:38788570C>A ENST00000348513.6 - 8 1371 c.591G>T c.(589-591)caG>caT p.Q197H SMARCE1_ENST00000377808.4_Missense_Mutation_p.Q162H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.Q127H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.Q162H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.Q179H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.Q127H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.Q127H NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 197 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) GGTGGTTTCTCTGGAAACGGG 0.468000 21 69 1.50039e-11 1.87549e-11 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073783 134073783 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr4:134073783G>A ENST00000264360.4 + 1 3314 c.2488G>A c.(2488-2490)Gcc>Acc p.A830T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 830 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCCTGAGTCCGCCAAGACCGA 0.607000 22 62 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065453 55065453 + RNA SNP T T C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr11:55065453T>C ENST00000526016.1 - 0 255 NR_038174.2 CTTCTTTGTCTCTCTGTGCAT 0.473000 9 20 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44088989 44088989 + Missense_Mutation SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chrX:44088989G>T ENST00000420999.1 - 11 1740 c.1657C>A c.(1657-1659)Ctg>Atg p.L553M NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 553 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TCTTGCTTCAGCTTTTGTAGG 0.383000 23 81 1.50538e-07 1.67265e-07 1 1 0 TTBK1 84630 broad.mit.edu 37 6 43251551 43251551 + Missense_Mutation SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr6:43251551G>T ENST00000259750.4 + 14 3156 c.3073G>T c.(3073-3075)Gcc>Tcc p.A1025S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1025 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AGACGGGCCAGCCCCGGTGTC 0.667000 10 61 7.03913e-09 7.93141e-09 1 1 0 KPNB1 3837 broad.mit.edu 37 17 45748079 45748079 + Missense_Mutation SNP T T A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr17:45748079T>A ENST00000290158.4 + 12 1835 c.1428T>A c.(1426-1428)agT>agA p.S476R KPNB1_ENST00000540627.1_Missense_Mutation_p.S331R|KPNB1_ENST00000537679.1_Missense_Mutation_p.S260R|KPNB1_ENST00000535458.2_Missense_Mutation_p.S331R NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 476 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 CTTTCTCCAGTCTGGCTGAAG 0.418000 26 105 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 37 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106307374 106307374 + RNA SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr14:106307374C>T ENST00000390556.2 - 0 663 GTTGCTGTGCCGCTCCAGCAG 0.667000 3 9 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934805 9934805 + Silent SNP T T A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:9934805T>A ENST00000396573.2 - 7 1794 c.1485A>T c.(1483-1485)ggA>ggT p.G495G GRIN2A_ENST00000396575.2_Silent_p.G495G|GRIN2A_ENST00000562109.1_Silent_p.G495G|GRIN2A_ENST00000404927.2_Silent_p.G495G|GRIN2A_ENST00000330684.3_Silent_p.G495G|GRIN2A_ENST00000535259.1_Silent_p.G338G NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 495 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACCGATCATTCCATTCCACA 0.418000 42 115 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61028428 61028428 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr10:61028428C>A ENST00000373867.3 - 9 1043 c.578G>T c.(577-579)aGc>aTc p.S193I FAM13C_ENST00000468840.2_Missense_Mutation_p.S193I|FAM13C_ENST00000277705.6_Missense_Mutation_p.S297I|FAM13C_ENST00000419214.2_Missense_Mutation_p.S276I|FAM13C_ENST00000435852.2_Missense_Mutation_p.S276I|FAM13C_ENST00000422313.2_Missense_Mutation_p.S276I|FAM13C_ENST00000373868.2_Missense_Mutation_p.S276I|FAM13C_ENST00000442566.3_Missense_Mutation_p.S297I NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 276 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCTCCACAGCTGCAGCGTGA 0.473000 9 51 2.17888e-05 2.26377e-05 1 1 0 WDR59 79726 broad.mit.edu 37 16 74957890 74957890 + Silent SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:74957890G>A ENST00000262144.6 - 9 793 c.663C>T c.(661-663)taC>taT p.Y221Y NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 221 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GAGGCTGGCGGTAATCCCAGA 0.433000 3 31 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36036073 36036073 + Nonsense_Mutation SNP G G C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr5:36036073G>C ENST00000282507.3 - 7 1400 c.1299C>G c.(1297-1299)taC>taG p.Y433* UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.Y131*|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.Y399* NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 433 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCGCGGACTTGTATCTGTTGA 0.547000 4 95 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43702460 43702460 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr21:43702460G>A ENST00000398437.1 + 7 1251 c.1103G>A c.(1102-1104)cGc>cAc p.R368H ABCG1_ENST00000398449.3_Missense_Mutation_p.R222H|ABCG1_ENST00000398457.2_Missense_Mutation_p.R224H|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.R233H|ABCG1_ENST00000347800.2_Missense_Mutation_p.R219H|ABCG1_ENST00000361802.2_Missense_Mutation_p.R222H|ABCG1_ENST00000340588.4_Missense_Mutation_p.R330H P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 222 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity p.R222H(1)|p.R224H(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GGTGGTCAGCGCAAGCGCCTG 0.607000 3 61 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104783653 104783653 + Missense_Mutation SNP A A G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr7:104783653A>G ENST00000357311.3 - 9 1076 c.905T>C c.(904-906)aTa>aCa p.I302T SRPK2_ENST00000489828.1_Missense_Mutation_p.I302T|SRPK2_ENST00000393651.3_Missense_Mutation_p.I313T NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 302 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GTTTTCTTCTATTATTTTCCT 0.448000 32 96 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144181578 144181578 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr6:144181578G>A ENST00000367576.5 + 7 945 c.811G>A c.(811-813)Gat>Aat p.D271N NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 271 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) TGAGCAATATGATGATGATGA 0.313000 21 96 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13370478 13370478 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr19:13370478C>T ENST00000360228.5 - 27 4287 c.4288G>A c.(4288-4290)Gcg>Acg p.A1430T CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1431T NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1431 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGGTCTCGCGCCTTCACCTCA 0.532000 8 15 0 0 1 0 0 CH25H 9023 broad.mit.edu 37 10 90966519 90966519 + Missense_Mutation SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr10:90966519C>A ENST00000371852.2 - 1 552 c.531G>T c.(529-531)tgG>tgT p.W177C NM_003956.3 NP_003947.1 O95992 CH25H_HUMAN cholesterol 25-hydroxylase 177 bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process cytosol|endoplasmic reticulum membrane|integral to membrane cholesterol 25-hydroxylase activity|iron ion binding kidney(1)|large_intestine(2)|lung(3)|stomach(1) 7 Colorectal(252;0.0161) GBM - Glioblastoma multiforme(2;0.000133) AAAACAGTTCCCAGACGCTCA 0.572000 19 131 1.37657e-19 1.74802e-19 1 1 0 NKTR 4820 broad.mit.edu 37 3 42679747 42679747 + Missense_Mutation SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr3:42679747C>T ENST00000232978.8 + 13 2739 c.2551C>T c.(2551-2553)Cgg>Tgg p.R851W RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 851 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CAAGTCTGAACGGGAATGCCC 0.393000 13 31 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378328 31378328 + Silent SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr7:31378328G>A ENST00000297142.3 - 2 877 c.555C>T c.(553-555)gcC>gcT p.A185A NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 185 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GGAAACTCCTGGCGTTGAGCT 0.552000 6 82 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084745 99084745 + Missense_Mutation SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr7:99084745G>T ENST00000331410.5 + 5 1182 c.912G>T c.(910-912)caG>caT p.Q304H ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TTCGACATCAGGTGATCCATA 0.383000 21 46 2.79863e-10 3.24479e-10 1 1 0 ATP5O 539 broad.mit.edu 37 21 35288054 35288054 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr21:35288054G>A ENST00000290299.2 - 1 230 c.14C>T c.(13-15)gCa>gTa p.A5V LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000596365.1_RNA NM_001697.2 NP_001688.1 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 5 CCCGGACACTGCTGGGGCAGC 0.642000 5 7 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122319830 122319830 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chrX:122319830G>A ENST00000264357.5 + 2 548 c.256G>A c.(256-258)Gtg>Atg p.V86M GRIA3_ENST00000371266.1_Missense_Mutation_p.V86M|GRIA3_ENST00000542149.1_Missense_Mutation_p.V86M|GRIA3_ENST00000371264.3_Missense_Mutation_p.V86M|GRIA3_ENST00000541091.1_Missense_Mutation_p.V70M|GRIA3_ENST00000371256.5_Missense_Mutation_p.V86M|GRIA3_ENST00000371251.1_Missense_Mutation_p.V86M|GRIA3_ENST00000479118.1_3'UTR NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 86 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TAGTTTTTCCGTGACAAATGC 0.463000 18 85 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37487473 37487473 + Silent SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr2:37487473G>T ENST00000379066.1 - 15 2701 c.1939C>A c.(1939-1941)Cga>Aga p.R647R PRKD3_ENST00000234179.2_Silent_p.R647R O94806 KPCD3_HUMAN protein kinase D3 647 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ACAAAGACTCGTTCTGGGGTT 0.398000 7 51 0.000157383 0.000161419 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10970891 10970891 + Missense_Mutation SNP G G C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr3:10970891G>C ENST00000254488.2 + 10 1303 c.1237G>C c.(1237-1239)Gtg>Ctg p.V413L NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 413 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CATCCAGTTTGTGTGTGTGGA 0.587000 17 141 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579415 140579415 + Missense_Mutation SNP T T C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr5:140579415T>C ENST00000354757.3 + 1 68 c.68T>C c.(67-69)aTg>aCg p.M23T PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 23 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCTCGGAATGTCTCAGGCG 0.507000 5 64 0 0 1 0 0 SNF8 11267 broad.mit.edu 37 17 47007911 47007911 + Missense_Mutation SNP A A G TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr17:47007911A>G ENST00000502492.1 - 8 1085 c.703T>C c.(703-705)Tgg>Cgg p.W235R SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Missense_Mutation_p.W234R Q96H20 SNF8_HUMAN SNF8, ESCRT-II complex subunit 235 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding breast(1)|endometrium(1)|lung(1) 3 GCTGGCAGCCAGTAGTGGGCC 0.587000 10 45 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144109089 144109089 + Missense_Mutation SNP G G T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr4:144109089G>T ENST00000307017.4 + 2 1299 c.793G>T c.(793-795)Gca>Tca p.A265S USP38_ENST00000510377.1_Missense_Mutation_p.A265S NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 265 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) TGTAAAAGATGCAAGTATGAC 0.398000 14 78 2.35188e-11 2.89462e-11 1 1 0 F7 2155 broad.mit.edu 37 13 113770093 113770093 + Missense_Mutation SNP G G C TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr13:113770093G>C ENST00000375581.3 + 6 585 c.550G>C c.(550-552)Ggg>Cgg p.G184R F7_ENST00000541084.1_Missense_Mutation_p.G115R|F7_ENST00000346342.3_Missense_Mutation_p.G162R NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 184 EGF-like 2. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCTGGCAGACGGGGTGTCCTG 0.597000 4 45 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137503765 137503765 + Silent SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr5:137503765G>A ENST00000254900.5 - 9 1016 c.645C>T c.(643-645)gtC>gtT p.V215V BRD8_ENST00000455658.2_Silent_p.V174V|BRD8_ENST00000402931.1_Silent_p.V215V|BRD8_ENST00000230901.5_Silent_p.V288V|BRD8_ENST00000411594.2_Silent_p.V288V NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 215 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CACTCTCATTGACCTACCAGG 0.493000 23 56 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55895336 55895336 + Silent SNP C C T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:55895336C>T ENST00000521992.1 - 8 1135 c.990G>A c.(988-990)ctG>ctA p.L330L CES5A_ENST00000520435.1_Silent_p.L271L|CES5A_ENST00000319165.9_Silent_p.L301L|CES5A_ENST00000290567.9_Silent_p.L301L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.L195L NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 301 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGCTGAGGGTCAGCAGCTCCT 0.527000 6 43 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151902288 151902288 + Silent SNP C C A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr7:151902288C>A ENST00000355193.2 - 25 4082 c.3864G>T c.(3862-3864)cgG>cgT p.R1288R KMT2C_ENST00000262189.6_Silent_p.R1288R lysine (K)-specific methyltransferase 2C p.?(1) GACTTCTTTGCCGCACCATAA 0.398000 9 64 9.31168e-06 9.93246e-06 1 1 0 SLC5A2 6524 broad.mit.edu 37 16 31499039 31499039 + Missense_Mutation SNP G G A TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr16:31499039G>A ENST00000330498.3 + 7 863 c.844G>A c.(844-846)Gga>Aga p.G282R AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 282 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GCTGCTCCTCGGACTCACAAT 0.697000 9 38 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 285 --- --- --- --- TCERG1L 256536 broad.mit.edu 37 10 132944796 132944796 + Frame_Shift_Del DEL G G - TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr10:132944796delG ENST00000368642.4 - 7 1247 c.1162delC c.(1162-1164)acfs p.H388fs NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 388 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TTGCGTTTGTGGGGCGGGTCC 0.493 9 100 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101750705 101750706 + Splice_Site INS - - T TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr12:101750705_101750706insT ENST00000261637.4 + 43 5710_5711 c.5534_splice c.e43-1 p.F1846_splice NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1846 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ATTTTCTAGTATTTTGCTGAAA 0.356 8 68 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 3 3 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 8 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579329 7579345 + Frame_Shift_Del DEL TGGCTGTCCCAGAATGC TGGCTGTCCCAGAATGC - rs121912658 TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr17:7579329_7579345delTGGCTGTCCCAGAATGC ENST00000420246.2 - 4 474_490 c.342_358delGCATTCTGGGACAGCCA c.(340-360)ttagfs p.LHSGTAK114fs TP53_ENST00000359597.4_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.LHSGTAK114fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 114 Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. 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.T118fs*5(8)|p.0?(8)|p.A119A(5)|p.T118fs*31(4)|p.T118I(3)|p.G59fs*23(3)|p.K120E(3)|p.K120*(2)|p.G117E(2)|p.T118fs*27(1)|p.L114fs*30(1)|p.V73fs*9(1)|p.T118A(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.T118T(1)|p.T118R(1)|p.H115fs*8(1)|p.G117R(1)|p.P13fs*18(1)|p.K120fs*3(1)|p.T118fs*6(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.H115fs*27(1)|p.A119fs*5(1)|p.S116F(1)|p.K120Q(1)|p.G112_S116delGFLHS(1)|p.S116C(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) GTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCA 0.585 111 """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) 16 75 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-86-7953-01A-11D-2184-08 TCGA-86-7953-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19ab51b6-eb35-457f-86e0-745f592fc50c 7c1a85a3-439d-42ac-b900-d1c0b36c778f g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 4 --- --- --- ---