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 FAM21C 253725 broad.mit.edu 37 10 46248088 46248088 + Silent SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr10:46248088G>A ENST00000336378.4 + 12 1174 c.1056G>A c.(1054-1056)tcG>tcA p.S352S FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 352 p.S351S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 AGGACTTCTCGCCATTTGGCT 0.532000 76 117 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93300426 93300426 + Missense_Mutation SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr1:93300426A>G ENST00000370321.3 + 4 370 c.280A>G c.(280-282)Aat>Gat p.N94D NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 94 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGGCCTGACAAATTATGCTGC 0.453000 5 155 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44427675 44427675 + Silent SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr21:44427675T>C ENST00000291547.5 + 3 337 c.126T>C c.(124-126)ccT>ccC p.P42P PKNOX1_ENST00000432907.2_5'UTR NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 42 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GAGTGAGCCCTCCCCCTGTGG 0.522000 3 151 0 0 1 0 0 C7orf43 55262 broad.mit.edu 37 7 99753343 99753343 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr7:99753343G>A ENST00000316937.3 - 9 1531 c.1346C>T c.(1345-1347)gCg>gTg p.A449V C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 449 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAAGGTGAGCGCGCTGCCCTT 0.657000 4 88 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80121090 80121090 + Nonsense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr17:80121090G>A ENST00000389641.4 - 13 2062 c.2026C>T c.(2026-2028)Cga>Tga p.R676* CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676* Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 676 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TGTCTGAGTCGTGTCACCAGC 0.617000 75 124 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62361465 62361465 + Missense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr11:62361465C>G ENST00000278823.2 - 18 2278 c.1889G>C c.(1888-1890)cGc>cCc p.R630P MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 630 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GTTGGGTCGGCGAGCAGCTCG 0.582000 OREG0021027 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 57 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138678882 138678882 + Silent SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chrX:138678882G>A ENST00000520602.1 - 22 2568 c.2283C>T c.(2281-2283)agC>agT p.S761S MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000414978.1_Silent_p.S761S P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 701 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTATCCAAACGCTGAATCCAC 0.388000 7 53 0 0 1 0 0 S100A3 6274 broad.mit.edu 37 1 153520902 153520902 + Silent SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr1:153520902T>G ENST00000368713.3 - 2 256 c.60A>C c.(58-60)gcA>gcC p.A20A S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron NM_002960.1 NP_002951.1 P33764 S10A3_HUMAN S100 calcium binding protein A3 20 EF-hand 1. calcium ion binding|protein binding breast(1)|liver(1)|lung(1) 3 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CACAGCGCCCTGCGTATTCCT 0.612000 15 189 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7811388 7811388 + Missense_Mutation SNP G G C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr4:7811388G>C ENST00000420658.1 - 9 1279 c.1007C>G c.(1006-1008)tCc>tGc p.S336C AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 336 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CTCGTCTGTGGACGGCTTTTT 0.507000 10 22 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153190627 153190627 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr5:153190627C>T ENST00000285900.5 + 16 2906 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 855 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGAAGCCATACGGACATCGAC 0.592000 20 34 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7624001 7624001 + Missense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr19:7624001C>G ENST00000221249.6 + 31 3980 c.3549C>G c.(3547-3549)ttC>ttG p.F1183L PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1222 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCGACTGCTTCAAGACCATGG 0.567000 21 37 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123239400 123239400 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr10:123239400G>T ENST00000358487.5 - 18 2709 c.2437C>A c.(2437-2439)Cca>Aca p.P813T FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 813 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTTATGTGTGGATACTGAGGA 0.478000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 9 79 2.17888e-05 2.46308e-05 1 1 0 NISCH 11188 broad.mit.edu 37 3 52522494 52522494 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr3:52522494C>A ENST00000345716.4 + 16 3120 c.2986C>A c.(2986-2988)Cgc>Agc p.R996S NISCH_ENST00000479054.1_Missense_Mutation_p.R996S NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 996 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCACTTCCTGCGCGTCTACAA 0.647000 3 86 1 1 1 1 0 ARHGAP22 58504 broad.mit.edu 37 10 49791063 49791063 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr10:49791063G>A ENST00000249601.4 - 2 465 c.169C>T c.(169-171)Cgc>Tgc p.R57C ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000491108.1_5'UTR NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 57 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACAAACCAGCGCTGCTGCCAG 0.612000 93 100 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821136 10821136 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr11:10821136G>T ENST00000526148.1 - 19 2797 c.2287C>A c.(2287-2289)Cat>Aat p.H763N RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 763 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTATCTACATGAAGTTTGGGA 0.363000 5 68 0.00307968 0.00333632 1 1 0 RAF1 5894 broad.mit.edu 37 3 12626634 12626634 + Missense_Mutation SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr3:12626634T>C ENST00000251849.4 - 15 2094 c.1655A>G c.(1654-1656)aAc>aGc p.N552S RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 552 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ATCTCGGTTGTTGATGTGAGA 0.517000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 3 80 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493494 170493494 + Nonsense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr2:170493494C>T ENST00000260970.3 + 14 1946 c.1726C>T c.(1726-1728)Cga>Tga p.R576* PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561* NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 576 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.R576*(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CAGAAGAGTGCGATCAAGAAC 0.448000 3 47 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44167989 44167989 + Missense_Mutation SNP G G C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr20:44167989G>C ENST00000600168.1 - 1 145 c.58C>G c.(58-60)Cag>Gag p.Q20E WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) CCAGGTTCCTGGATGTCCCCC 0.502000 37 40 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51172768 51172768 + Missense_Mutation SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr16:51172768A>G ENST00000440970.1 - 2 3505 c.3074T>C c.(3073-3075)cTg>cCg p.L1025P SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1122 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCAGGGAGCAGAACTGGGGA 0.567000 16 37 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 4 92 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75266297 75266297 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr14:75266297G>A ENST00000325680.7 + 5 4421 c.4297G>A c.(4297-4299)Gat>Aat p.D1433N YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GATGGGGTCCGATGCAAGCTT 0.483000 4 139 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789573 1789573 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr19:1789573C>A ENST00000539485.1 - 23 2895 c.2662G>T c.(2662-2664)Gct>Tct p.A888S ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 878 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGTGCAGCCAGCGGGAGC 0.692000 2 1 0.0784 0.0832 1 1 0 GAD2 2572 broad.mit.edu 37 10 26575312 26575312 + Nonsense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr10:26575312C>G ENST00000376261.3 + 13 1778 c.1275C>G c.(1273-1275)taC>taG p.Y425* GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425* NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 425 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ATGCCTCCTACCTCTTTCAGC 0.393000 29 39 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179320488 179320488 + Nonsense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr3:179320488C>A ENST00000476781.1 - 2 225 c.196G>T c.(196-198)Gaa>Taa p.E66* MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46* NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 66 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TCAAAAAATTCTTCTAGTCCT 0.373000 27 44 3.65163e-15 4.21966e-15 1 1 0 SRGAP1 57522 broad.mit.edu 37 12 64491145 64491145 + Missense_Mutation SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr12:64491145T>G ENST00000355086.3 + 15 2327 c.1803T>G c.(1801-1803)atT>atG p.I601M SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 601 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ACGATCTGATTTCTTGTATCA 0.428000 15 29 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr10:24669920T>C ENST00000376454.3 + 3 507 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 159 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCAACCCCTTTTTCCAGAG 0.542000 3 63 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46900696 46900696 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr21:46900696G>A ENST00000359759.4 + 12 2801 c.2780G>A c.(2779-2781)aGc>aAc p.S927N COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 927 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGGGTGAACAGCTCCGACGTC 0.721000 13 17 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75072309 75072309 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr1:75072309C>T ENST00000326665.5 - 10 1683 c.1465G>A c.(1465-1467)Gac>Aac p.D489N C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 489 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTTCCTGGTCGTCTTCCAAG 0.358000 32 50 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968733 4968733 + Silent SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chrY:4968733C>T ENST00000333703.4 + 5 3594 c.3081C>T c.(3079-3081)tcC>tcT p.S1027S PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1038 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TACCTGTGTCCGTACACACCA 0.403000 4 67 0 0 1 0 0 ILKAP 80895 broad.mit.edu 37 2 239096826 239096826 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr2:239096826G>A ENST00000254654.3 - 5 546 c.371C>T c.(370-372)gCc>gTc p.A124V NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 124 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GATGACGTGGGCATCCTGCAT 0.542000 21 18 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31614196 31614196 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr6:31614196G>A ENST00000404765.2 - 8 1182 c.893C>T c.(892-894)gCt>gTt p.A298V BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000375964.6_Missense_Mutation_p.A304V P46379 BAG6_HUMAN BCL2-associated athanogene 6 304 4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGTGGTGGCAGCAGCACCCAG 0.572000 3 73 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418675 43418675 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr6:43418675G>A ENST00000357338.3 - 6 1454 c.754C>T c.(754-756)Cct>Tct p.P252S DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 252 integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCTGGGACAGGTAAGACAAGC 0.672000 34 60 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76532484 76532484 + Missense_Mutation SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr16:76532484T>C ENST00000307431.8 + 16 2640 c.2255T>C c.(2254-2256)cTt>cCt p.L752P CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 753 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACTGGATTGCTTGCTTATAAA 0.393000 17 19 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6738818 6738818 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr5:6738818G>A ENST00000230859.6 + 3 242 c.113G>A c.(112-114)aGt>aAt p.S38N NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 38 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGCAGCTTTAGTACAGGTCTT 0.418000 84 112 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107569561 107569561 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr7:107569561G>A ENST00000393561.1 - 29 5091 c.4907C>T c.(4906-4908)gCa>gTa p.A1636V LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V P07942 LAMB1_HUMAN laminin, beta 1 1612 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGTTTAATTGCCTTCTCTGC 0.418000 8 157 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119176912 119176912 + Missense_Mutation SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr3:119176912T>G ENST00000319172.5 - 3 709 c.289A>C c.(289-291)Aca>Cca p.T97P TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 97 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CACCACACTGTTTTATAAATG 0.383000 4 77 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr6:139266690T>C ENST00000450536.2 - 3 996 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 141 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 4 188 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43654116 43654116 + Nonsense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr15:43654116C>A ENST00000396976.2 - 5 1848 c.1714G>T c.(1714-1716)Gaa>Taa p.E572* ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 572 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GAATTATCTTCATTCTCAAAT 0.343000 3 48 1 1 1 1 0 ARHGAP4 393 broad.mit.edu 37 X 153187219 153187219 + Silent SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chrX:153187219C>A ENST00000370028.3 - 2 168 c.111G>T c.(109-111)ctG>ctT p.L37L ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000370016.1_Silent_p.L37L|ARHGAP4_ENST00000350060.5_Silent_p.L37L NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 37 FCH. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCGCCCTGCAGCTCCAGGC 0.687000 4 0 3.59834e-05 3.98114e-05 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576475 33576475 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr5:33576475C>A ENST00000504830.1 - 19 3991 c.3656G>T c.(3655-3657)gGa>gTa p.G1219V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1219 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGGGAGCAGTCCTTCCATTAC 0.557000 HNSCC(64;0.19) 48 58 1.46357e-32 1.72968e-32 1 1 0 PARVG 64098 broad.mit.edu 37 22 44585032 44585032 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr22:44585032G>A ENST00000422871.1 + 6 710 c.286G>A c.(286-288)Gcc>Acc p.A96T PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000444313.2_Missense_Mutation_p.A96T NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 96 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) AGAGGACATCGCCCTGACAGC 0.652000 7 64 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20067611 20067611 + Silent SNP G G A rs144275026 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr13:20067611G>A ENST00000400230.2 - 2 86 c.42C>T c.(40-42)acC>acT p.T14T TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 14 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GTGCCTCCTCGGTTGTTCCTT 0.373000 9 57 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71496023 71496023 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr8:71496023G>A ENST00000521425.1 - 9 1530 c.494C>T c.(493-495)tCt>tTt p.S165F TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521049.1_5'UTR Q15629 TRAM1_HUMAN translocation associated membrane protein 1 251 TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TGCCCACAGAGAAAATCTGCA 0.403000 24 24 0 0 1 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011661 2011661 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr16:2011661C>T ENST00000543683.2 + 3 515 c.433C>T c.(433-435)Ccc>Tcc p.P145S NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 13 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) CCACCCCCAACCCCCCACCAT 0.597000 4 3 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91230659 91230659 + Silent SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr4:91230659A>G ENST00000509176.1 + 2 1512 c.1224A>G c.(1222-1224)aaA>aaG p.K408K CCSER1_ENST00000333691.8_Silent_p.K408K|CCSER1_ENST00000432775.2_Silent_p.K408K NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AACATGTAAAAGGGATCCATC 0.358000 3 163 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120223462 120223462 + Splice_Site SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr2:120223462G>A ENST00000019103.5 - 5 673 c.405_splice c.e5-1 p.H136_splice NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 136 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGGTAGGAGTGCTGCAGAGAG 0.622000 3 41 0 0 1 0 0 MRAS 22808 broad.mit.edu 37 3 138117381 138117381 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr3:138117381C>A ENST00000289104.4 + 4 1065 c.418C>A c.(418-420)Caa>Aaa p.Q140K MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 140 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 CACCAGGGAGCAAGGAAAAGA 0.512000 3 70 0.150653 0.15668 1 1 0 FAM21C 253725 broad.mit.edu 37 10 46248088 46248088 + Silent SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr10:46248088G>A ENST00000336378.4 + 12 1174 c.1056G>A c.(1054-1056)tcG>tcA p.S352S FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 352 p.S351S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 AGGACTTCTCGCCATTTGGCT 0.532000 76 117 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93300426 93300426 + Missense_Mutation SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr1:93300426A>G ENST00000370321.3 + 4 370 c.280A>G c.(280-282)Aat>Gat p.N94D NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 94 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGGCCTGACAAATTATGCTGC 0.453000 5 155 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27620945 27620945 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr17:27620945G>T ENST00000225388.4 - 1 191 c.133C>A c.(133-135)Cac>Aac p.H45N NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 45 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtggtggttgtggctg 0.587000 5 112 1.23904e-05 1.41251e-05 1 1 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968733 4968733 + Silent SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chrY:4968733C>T ENST00000333703.4 + 5 3594 c.3081C>T c.(3079-3081)tcC>tcT p.S1027S PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1038 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TACCTGTGTCCGTACACACCA 0.403000 4 67 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 7 155 0 0 1 0 0 C7orf43 55262 broad.mit.edu 37 7 99753343 99753343 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr7:99753343G>A ENST00000316937.3 - 9 1531 c.1346C>T c.(1345-1347)gCg>gTg p.A449V C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 449 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAAGGTGAGCGCGCTGCCCTT 0.657000 4 88 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80121090 80121090 + Nonsense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr17:80121090G>A ENST00000392347.1 - 13 2062 c.2026C>T c.(2026-2028)Cga>Tga p.R676* CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.R676* NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 676 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TGTCTGAGTCGTGTCACCAGC 0.617000 75 124 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62361465 62361465 + Missense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr11:62361465C>G ENST00000278823.2 - 18 2278 c.1889G>C c.(1888-1890)cGc>cCc p.R630P MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 630 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GTTGGGTCGGCGAGCAGCTCG 0.582000 OREG0021027 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 57 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138678882 138678882 + Silent SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chrX:138678882G>A ENST00000520602.1 - 22 2568 c.2283C>T c.(2281-2283)agC>agT p.S761S MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370576.4_Silent_p.S701S P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 701 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTATCCAAACGCTGAATCCAC 0.388000 7 53 0 0 1 0 0 S100A3 6274 broad.mit.edu 37 1 153520902 153520902 + Silent SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr1:153520902T>G ENST00000368713.3 - 2 256 c.60A>C c.(58-60)gcA>gcC p.A20A S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Silent_p.A20A NM_002960.1 NP_002951.1 P33764 S10A3_HUMAN S100 calcium binding protein A3 20 EF-hand 1. calcium ion binding|protein binding breast(1)|liver(1)|lung(1) 3 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CACAGCGCCCTGCGTATTCCT 0.612000 15 189 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 23 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7811388 7811388 + Missense_Mutation SNP G G C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr4:7811388G>C ENST00000420658.1 - 9 1279 c.1007C>G c.(1006-1008)tCc>tGc p.S336C AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 336 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CTCGTCTGTGGACGGCTTTTT 0.507000 10 22 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153190627 153190627 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr5:153190627C>T ENST00000285900.5 + 16 2906 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 855 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGAAGCCATACGGACATCGAC 0.592000 20 34 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7624001 7624001 + Missense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:7624001C>G ENST00000221249.6 + 31 3980 c.3549C>G c.(3547-3549)ttC>ttG p.F1183L PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1222 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCGACTGCTTCAAGACCATGG 0.567000 21 37 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123239400 123239400 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr10:123239400G>T ENST00000358487.5 - 18 2709 c.2437C>A c.(2437-2439)Cca>Aca p.P813T FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 813 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTTATGTGTGGATACTGAGGA 0.478000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 9 79 2.17888e-05 2.43522e-05 1 1 0 NISCH 11188 broad.mit.edu 37 3 52522494 52522494 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr3:52522494C>A ENST00000345716.4 + 16 3120 c.2986C>A c.(2986-2988)Cgc>Agc p.R996S NISCH_ENST00000479054.1_Missense_Mutation_p.R996S NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 996 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCACTTCCTGCGCGTCTACAA 0.647000 3 86 1 1 1 1 0 ARHGAP22 58504 broad.mit.edu 37 10 49791063 49791063 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr10:49791063G>A ENST00000249601.4 - 2 465 c.169C>T c.(169-171)Cgc>Tgc p.R57C ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 57 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACAAACCAGCGCTGCTGCCAG 0.612000 93 100 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821136 10821136 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr11:10821136G>T ENST00000526148.1 - 19 2797 c.2287C>A c.(2287-2289)Cat>Aat p.H763N RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 763 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTATCTACATGAAGTTTGGGA 0.363000 5 68 0.00307968 0.00331211 1 1 0 RAF1 5894 broad.mit.edu 37 3 12626634 12626634 + Missense_Mutation SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr3:12626634T>C ENST00000251849.4 - 15 2094 c.1655A>G c.(1654-1656)aAc>aGc p.N552S RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 552 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) ATCTCGGTTGTTGATGTGAGA 0.517000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 3 80 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493494 170493494 + Nonsense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr2:170493494C>T ENST00000260970.3 + 14 1946 c.1726C>T c.(1726-1728)Cga>Tga p.R576* PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561* NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 576 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.R576*(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CAGAAGAGTGCGATCAAGAAC 0.448000 3 47 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44167989 44167989 + Missense_Mutation SNP G G C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr20:44167989G>C ENST00000600168.1 - 1 145 c.58C>G c.(58-60)Cag>Gag p.Q20E EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) CCAGGTTCCTGGATGTCCCCC 0.502000 37 40 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51172768 51172768 + Missense_Mutation SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr16:51172768A>G ENST00000440970.1 - 2 3505 c.3074T>C c.(3073-3075)cTg>cCg p.L1025P SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1122 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCAGGGAGCAGAACTGGGGA 0.567000 16 37 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170018 20170018 + RNA SNP C C G rs140304162 by1000genomes TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr15:20170018C>G ENST00000338912.5 - 0 253 p.G85A(1) GGTGACTCTGCCCTGGAACTT 0.547000 3 145 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 4 92 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75266297 75266297 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr14:75266297G>A ENST00000325680.7 + 5 4421 c.4297G>A c.(4297-4299)Gat>Aat p.D1433N YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GATGGGGTCCGATGCAAGCTT 0.483000 4 139 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789573 1789573 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:1789573C>A ENST00000539485.1 - 23 2895 c.2662G>T c.(2662-2664)Gct>Tct p.A888S ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 878 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGTGCAGCCAGCGGGAGC 0.692000 2 1 0.0784 0.0827556 1 1 0 GAD2 2572 broad.mit.edu 37 10 26575312 26575312 + Nonsense_Mutation SNP C C G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr10:26575312C>G ENST00000376261.3 + 13 1778 c.1275C>G c.(1273-1275)taC>taG p.Y425* GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425* NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 425 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ATGCCTCCTACCTCTTTCAGC 0.393000 29 39 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179320488 179320488 + Nonsense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr3:179320488C>A ENST00000476781.1 - 2 225 c.196G>T c.(196-198)Gaa>Taa p.E66* MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46* NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 66 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TCAAAAAATTCTTCTAGTCCT 0.373000 27 44 3.65163e-15 4.24781e-15 1 1 0 SRGAP1 57522 broad.mit.edu 37 12 64491145 64491145 + Missense_Mutation SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr12:64491145T>G ENST00000355086.3 + 15 2327 c.1803T>G c.(1801-1803)atT>atG p.I601M SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 601 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ACGATCTGATTTCTTGTATCA 0.428000 15 29 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr10:24669920T>C ENST00000376454.3 + 3 507 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000376462.1_Silent_p.P79P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 159 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCAACCCCTTTTTCCAGAG 0.542000 3 63 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46900696 46900696 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr21:46900696G>A ENST00000359759.4 + 12 2801 c.2780G>A c.(2779-2781)aGc>aAc p.S927N COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N|COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 927 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGGGTGAACAGCTCCGACGTC 0.721000 13 17 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75072309 75072309 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr1:75072309C>T ENST00000326665.5 - 10 1683 c.1465G>A c.(1465-1467)Gac>Aac p.D489N C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 489 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTTCCTGGTCGTCTTCCAAG 0.358000 32 50 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43654116 43654116 + Nonsense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr15:43654116C>A ENST00000396976.2 - 5 1848 c.1714G>T c.(1714-1716)Gaa>Taa p.E572* ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 572 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GAATTATCTTCATTCTCAAAT 0.343000 3 48 1 1 1 1 0 ILKAP 80895 broad.mit.edu 37 2 239096826 239096826 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr2:239096826G>A ENST00000254654.3 - 5 546 c.371C>T c.(370-372)gCc>gTc p.A124V NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 124 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GATGACGTGGGCATCCTGCAT 0.542000 21 18 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31614196 31614196 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr6:31614196G>A ENST00000404765.2 - 8 1182 c.893C>T c.(892-894)gCt>gTt p.A298V BAG6_ENST00000375964.6_Missense_Mutation_p.A304V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V P46379 BAG6_HUMAN BCL2-associated athanogene 6 304 4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGTGGTGGCAGCAGCACCCAG 0.572000 3 73 0 0 1 0 0 DLK2 65989 broad.mit.edu 37 6 43418675 43418675 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr6:43418675G>A ENST00000357338.3 - 6 1454 c.754C>T c.(754-756)Cct>Tct p.P252S DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 252 integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCTGGGACAGGTAAGACAAGC 0.672000 34 60 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76532484 76532484 + Missense_Mutation SNP T T C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr16:76532484T>C ENST00000307431.8 + 16 2640 c.2255T>C c.(2254-2256)cTt>cCt p.L752P CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 753 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACTGGATTGCTTGCTTATAAA 0.393000 17 19 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6738818 6738818 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr5:6738818G>A ENST00000230859.6 + 3 242 c.113G>A c.(112-114)aGt>aAt p.S38N NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 38 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGCAGCTTTAGTACAGGTCTT 0.418000 84 112 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107569561 107569561 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr7:107569561G>A ENST00000393561.1 - 29 5091 c.4907C>T c.(4906-4908)gCa>gTa p.A1636V LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V P07942 LAMB1_HUMAN laminin, beta 1 1612 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGTTTAATTGCCTTCTCTGC 0.418000 8 157 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119176912 119176912 + Missense_Mutation SNP T T G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr3:119176912T>G ENST00000319172.5 - 3 709 c.289A>C c.(289-291)Aca>Cca p.T97P TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 97 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CACCACACTGTTTTATAAATG 0.383000 4 77 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170677 207170677 + Missense_Mutation SNP G G T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr2:207170677G>T ENST00000374423.3 + 5 1811 c.1425G>T c.(1423-1425)caG>caT p.Q475H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 475 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TAAGTCTTCAGAATGCAAGGC 0.348000 6 15 0.00116845 0.0012808 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576475 33576475 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr5:33576475C>A ENST00000504830.1 - 19 3991 c.3656G>T c.(3655-3657)gGa>gTa p.G1219V ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1219 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGGGAGCAGTCCTTCCATTAC 0.557000 HNSCC(64;0.19) 48 58 1.46357e-32 1.73799e-32 1 1 0 PARVG 64098 broad.mit.edu 37 22 44585032 44585032 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr22:44585032G>A ENST00000422871.1 + 6 710 c.286G>A c.(286-288)Gcc>Acc p.A96T PARVG_ENST00000444313.2_Missense_Mutation_p.A96T|PARVG_ENST00000415224.1_Missense_Mutation_p.A96T NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 96 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) AGAGGACATCGCCCTGACAGC 0.652000 7 64 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20067611 20067611 + Silent SNP G G A rs144275026 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr13:20067611G>A ENST00000400230.2 - 2 86 c.42C>T c.(40-42)acC>acT p.T14T TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 14 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GTGCCTCCTCGGTTGTTCCTT 0.373000 9 57 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 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) GGACTCACTGAATAGATGTTA 0.473000 2 3 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71496023 71496023 + Missense_Mutation SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr8:71496023G>A ENST00000521425.1 - 9 1530 c.494C>T c.(493-495)tCt>tTt p.S165F TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000521049.1_5'UTR Q15629 TRAM1_HUMAN translocation associated membrane protein 1 251 TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TGCCCACAGAGAAAATCTGCA 0.403000 24 24 0 0 1 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011661 2011661 + Missense_Mutation SNP C C T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr16:2011661C>T ENST00000543683.2 + 3 515 c.433C>T c.(433-435)Ccc>Tcc p.P145S NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 13 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) CCACCCCCAACCCCCCACCAT 0.597000 4 3 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91230659 91230659 + Silent SNP A A G TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr4:91230659A>G ENST00000509176.1 + 2 1512 c.1224A>G c.(1222-1224)aaA>aaG p.K408K CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AACATGTAAAAGGGATCCATC 0.358000 3 163 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120223462 120223462 + Splice_Site SNP G G A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr2:120223462G>A ENST00000019103.5 - 5 673 c.405_splice c.e5-1 p.H136_splice NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 136 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) AGGTAGGAGTGCTGCAGAGAG 0.622000 3 41 0 0 1 0 0 MRAS 22808 broad.mit.edu 37 3 138117381 138117381 + Missense_Mutation SNP C C A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr3:138117381C>A ENST00000289104.4 + 4 1065 c.418C>A c.(418-420)Caa>Aaa p.Q140K MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 140 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 CACCAGGGAGCAAGGAAAAGA 0.512000 3 70 0.150653 0.156132 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 7 89 --- --- --- --- UGT2B10 7365 broad.mit.edu 37 4 69682325 69682326 + Frame_Shift_Ins INS - - C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr4:69682325_69682326insC ENST00000265403.7 + 1 615_616 c.588_589insC c.(586-591)gttgtcfs p.V197fs UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 197 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TACCTGTTGTTATGTCAAAATT 0.356 25 39 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaa 0.463 3 6 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 7 9 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 7 81 --- --- --- --- USP15 9958 broad.mit.edu 37 12 62785633 62785634 + Frame_Shift_Ins INS - - A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr12:62785633_62785634insA ENST00000280377.5 + 17 2329_2330 c.2271_2272insA c.(2269-2274)ttaaaafs p.LK757fs USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 757 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ATCCTGATTTGAAAAAAAGATA 0.277 23 28 --- --- --- --- AC002331.1 0 broad.mit.edu 37 16 26599065 26599068 + RNA DEL ACAG ACAG - rs71134607 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr16:26599065_26599068delACAG ENST00000443373.1 - 0 104 ACATACAGACacagacagacagac 0.353 2 4 --- --- --- --- CXADRP3 0 broad.mit.edu 37 18 14479021 14479023 + RNA DEL ATC ATC - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr18:14479021_14479023delATC ENST00000581457.1 - 0 885_887 NR_024076.1 CTGGATAGTAATCATCATAAATT 0.374 5 8 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2338915 2338915 + RNA DEL T T - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff bb02213c-0f97-4cea-a808-094166184ac9 g.chr19:2338915delT ENST00000452401.2 + 0 539 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGGGGGGTTTGTGCCTCA 0.682 7 1 --- --- --- --- UGT2B10 7365 broad.mit.edu 37 4 69682325 69682326 + Frame_Shift_Ins INS - - C TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr4:69682325_69682326insC ENST00000265403.7 + 1 615_616 c.588_589insC c.(586-591)gttgtcfs p.V197fs UGT2B10_ENST00000458688.2_Intron NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 197 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TACCTGTTGTTATGTCAAAATT 0.356 25 39 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaa 0.463 3 6 --- --- --- --- USP15 9958 broad.mit.edu 37 12 62785633 62785634 + Frame_Shift_Ins INS - - A TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr12:62785633_62785634insA ENST00000280377.5 + 17 2329_2330 c.2271_2272insA c.(2269-2274)ttaaaafs p.LK757fs USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 757 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ATCCTGATTTGAAAAAAAGATA 0.277 23 28 --- --- --- --- CXADRP3 0 broad.mit.edu 37 18 14479021 14479023 + RNA DEL ATC ATC - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr18:14479021_14479023delATC ENST00000581457.1 - 0 885_887 NR_024076.1 CTGGATAGTAATCATCATAAATT 0.374 5 8 --- --- --- --- ONECUT2 9480 broad.mit.edu 37 18 55103477 55103479 + In_Frame_Del DEL CAC CAC - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr18:55103477_55103479delCAC ENST00000491143.2 + 1 561_563 c.529_531delCAC c.(529-531)del p.H184del NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 184 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ccaccatccgcaccaccaccacc 0.655 4 9 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2338915 2338915 + RNA DEL T T - TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:2338915delT ENST00000452401.2 + 0 539 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGGGGGGTTTGTGCCTCA 0.682 7 1 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29919002 29919002 + RNA DEL C C - rs34808890 TCGA-HC-7752-01A-11D-2114-08 TCGA-HC-7752-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 109ba14b-307b-4a23-b09d-643fa235d0ff e6773cf6-a13a-4c92-9f1e-af315aa2657d g.chr19:29919002delC ENST00000582581.1 - 0 409 NR_040029.1 CTCACTCCTTCCCCCCAACCG 0.632 6 4 --- --- --- ---