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 OR10S1 219873 broad.mit.edu 37 11 123847523 123847523 + Silent SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:123847523G>T ENST00000531945.1 - 1 965 c.876C>A c.(874-876)atC>atA p.I292I NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGGAGTTACGATTGTGTAGA 0.537000 33 76 2.49991e-28 3.77987e-28 0.003271 1 0 CST1 1469 broad.mit.edu 37 20 23731396 23731396 + Missense_Mutation SNP G G T rs143815991 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:23731396G>T ENST00000304749.2 - 1 178 c.108C>A c.(106-108)aaC>aaA p.N36K CST1_ENST00000398402.1_Missense_Mutation_p.N36K NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 36 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TGAGGTCTGCGTTATAGATGC 0.572000 7 63 1.12685e-05 1.52125e-05 0.004482 1 0 NF1 4763 broad.mit.edu 37 17 29586061 29586061 + Missense_Mutation SNP T T A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:29586061T>A ENST00000358273.4 + 33 4727 c.4344T>A c.(4342-4344)agT>agA p.S1448R NF1_ENST00000356175.3_Missense_Mutation_p.S1427R NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1448 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TACTTCAGAGTATTGCCAATC 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 14 0 0 0.000602 0 0 C20orf26 26074 broad.mit.edu 37 20 20054956 20054956 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:20054956C>G ENST00000245957.5 + 4 381 c.305C>G c.(304-306)aCg>aGg p.T102R C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.T102R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.T102R NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 102 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCCCTGAATACGTTGTTCATG 0.512000 33 113 0 0 0.004289 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217786 44217786 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:44217786G>A ENST00000371554.1 + 5 757 c.543G>A c.(541-543)gtG>gtA p.V181V HSP90AB1_ENST00000353801.3_Silent_p.V181V|HSP90AB1_ENST00000371646.5_Silent_p.V181V P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 181 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTACCAAAGTGATCCTCCATC 0.438000 23 78 0 0 0.012319 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130281312 130281312 + Splice_Site SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:130281312C>T ENST00000257359.6 - 6 2456 c.1750_splice c.e6+1 p.G584_splice NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 584 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TGGTAATTACCGTCAGGGGGG 0.587000 13 30 0 0 0.001855 0 0 UBA6 55236 broad.mit.edu 37 4 68499067 68499067 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:68499067T>C ENST00000322244.4 - 23 2197 c.2138A>G c.(2137-2139)cAt>cGt p.H713R NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 713 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 ACTTACCTTATGGTTAAAATA 0.303000 21 58 0 0 0.014323 0 0 CD2AP 23607 broad.mit.edu 37 6 47563619 47563619 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:47563619G>A ENST00000359314.5 + 12 1587 c.1131G>A c.(1129-1131)caG>caA p.Q377Q NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 377 Pro-rich. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) CACTGGAACAGAAACCTTCTA 0.353000 25 190 0 0 0.006320 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616079 140616079 + RNA SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:140616079G>A ENST00000526308.1 + 0 2142 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCGAGCCTCCGCGCTCGGCCA 0.716000 11 50 0 0 0.002450 0 0 TRIM24 8805 broad.mit.edu 37 7 138239468 138239468 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:138239468G>T ENST00000343526.4 + 9 1502 c.1287G>T c.(1285-1287)gaG>gaT p.E429D TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.E429D O15164 TIF1A_HUMAN tripartite motif containing 24 429 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AGGATAAAGAGAGCCAGCCAC 0.373000 10 113 1.58986e-06 2.19332e-06 0.008291 1 0 MEX3D 399664 broad.mit.edu 37 19 1556787 1556787 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:1556787G>T ENST00000402693.4 - 2 730 c.731C>A c.(730-732)gCc>gAc p.A244D MEX3D_ENST00000388824.6_Missense_Mutation_p.A244D NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 244 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GAAGTGTTCGGCCGCCGACAG 0.687000 19 49 3.51602e-12 5.15137e-12 0.008871 1 0 STX12 23673 broad.mit.edu 37 1 28144385 28144385 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:28144385G>A ENST00000373943.4 + 7 725 c.600G>A c.(598-600)caG>caA p.Q200Q NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 200 t-SNARE coiled-coil homology. cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) ATGTCAATCAGATATTTAAAG 0.348000 6 27 0 0 0.003080 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 54 0 0 0.004672 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:195511959G>A ENST00000463781.3 - 2 6951 c.6492C>T c.(6490-6492)acC>acT p.T2164T MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 943 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577000 3 13 0 0 0.004672 0 0 SPTLC1 10558 broad.mit.edu 37 9 94794749 94794749 + Nonstop_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:94794749A>G ENST00000262554.2 - 15 1425 c.1420T>C c.(1420-1422)Tag>Cag p.*474Q NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 0 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GACTCTGCCTAGAGCAGGACG 0.582000 11 45 0 0 0.008291 0 0 FAM20A 54757 broad.mit.edu 37 17 66536060 66536060 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:66536060C>T ENST00000592554.1 - 9 1989 c.1267G>A c.(1267-1269)Gat>Aat p.D423N PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 423 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) AGGAACCCATCATCCCCGAAC 0.567000 8 49 0 0 0.004482 0 0 NXF5 55998 broad.mit.edu 37 X 101092616 101092616 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chrX:101092616C>T ENST00000537026.1 - 15 1289 c.930G>A c.(928-930)agG>agA p.R310R NXF5_ENST00000361708.2_Silent_p.R310R|NXF5_ENST00000473265.2_Silent_p.R310R NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 310 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TTAGCAGCTTCCTCTGCAGGT 0.527000 5 72 0 0 0.000602 0 0 URB2 9816 broad.mit.edu 37 1 229794895 229794895 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:229794895C>T ENST00000258243.2 + 10 4562 c.4426C>T c.(4426-4428)Ctc>Ttc p.L1476F NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1476 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GGGCATTTACCTCATCCTGGA 0.517000 54 127 0 0 0.014410 0 0 SHANK2 22941 broad.mit.edu 37 11 70319378 70319378 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70319378C>G ENST00000338508.4 - 33 5148 c.5149G>C c.(5149-5151)Gag>Cag p.E1717Q SHANK2_ENST00000423696.2_Missense_Mutation_p.E1337Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1120Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.E1121Q Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1337 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTGTTCATCTCTGTTGGCGAG 0.632000 26 420 0 0 0.004656 0 0 WDR33 55339 broad.mit.edu 37 2 128471233 128471233 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:128471233C>T ENST00000322313.4 - 18 3390 c.3232G>A c.(3232-3234)Gaa>Aaa p.E1078K NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1078 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CTGCGGCCTTCCCATGCCCCC 0.677000 33 128 0 0 0.010818 0 0 EEF1E1 9521 broad.mit.edu 37 6 8102741 8102741 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:8102741G>A ENST00000379715.5 - 1 70 c.14C>T c.(13-15)gCa>gTa p.A5V EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5V|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5V|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5V NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 5 negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) CGACAACTCTGCGGCCGCCGC 0.607000 6 47 0 0 0.003080 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626341 44626341 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:44626341T>C ENST00000576629.1 + 10 4331 c.3836T>C c.(3835-3837)aTt>aCt p.I1279T ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.I1279T|ARL17A_ENST00000329240.4_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1279 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) ACCCACGCTATTTCCATTTTA 0.468000 18 96 0 0 0.002780 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810853 50810853 + Silent SNP G G A rs140849621 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:50810853G>A ENST00000263046.4 + 8 1324 c.1158G>A c.(1156-1158)ccG>ccA p.P386P TFAP2B_ENST00000393655.3_Silent_p.P377P Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 377 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACCGGACACCGATAGGGAACA 0.592000 60 142 0 0 0.014410 0 0 CREBRF 153222 broad.mit.edu 37 5 172517748 172517748 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:172517748A>G ENST00000540014.1 + 4 885 c.566A>G c.(565-567)aAg>aGg p.K189R CREBRF_ENST00000520420.1_Missense_Mutation_p.K189R|CREBRF_ENST00000296953.2_Missense_Mutation_p.K189R|CREBRF_ENST00000522692.1_Missense_Mutation_p.K189R Q8IUR6 CE041_HUMAN CREB3 regulatory factor 189 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TGTTCTTCTAAGACTCTGCAG 0.438000 8 26 0 0 0.004482 0 0 CDH2 1000 broad.mit.edu 37 18 25532209 25532209 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:25532209T>G ENST00000269141.3 - 16 3052 c.2629A>C c.(2629-2631)Agt>Cgt p.S877R CDH2_ENST00000399380.3_Missense_Mutation_p.S846R NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 877 Ser-rich. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCACCACTACTTGAGGAATTA 0.507000 OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 95 0 0 0.003163 0 0 CUL3 8452 broad.mit.edu 37 2 225378279 225378279 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:225378279C>G ENST00000264414.4 - 5 954 c.616G>C c.(616-618)Gag>Cag p.E206Q CUL3_ENST00000344951.4_Missense_Mutation_p.E140Q|CUL3_ENST00000409096.1_Missense_Mutation_p.E182Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E182Q NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 206 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAAGGAGCCTCAAAATCTTCT 0.308000 5 24 0 0 0.001984 0 0 ZNF271P 10778 broad.mit.edu 37 18 32887551 32887551 + RNA SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:32887551C>T ENST00000399070.3 + 0 1945 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 GTTCTGATCTCATTAACCATC 0.433000 17 41 0 0 0.004007 0 0 SI 6476 broad.mit.edu 37 3 164737435 164737435 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:164737435C>T ENST00000264382.3 - 28 3440 c.3378G>A c.(3376-3378)ctG>ctA p.L1126L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1126 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTCCAGTTCAGATCTCGCT 0.433000 HNSCC(35;0.089) 38 158 0 0 0.004289 0 0 MEX3D 399664 broad.mit.edu 37 19 1556788 1556788 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:1556788C>T ENST00000402693.4 - 2 729 c.730G>A c.(730-732)Gcc>Acc p.A244T MEX3D_ENST00000388824.6_Missense_Mutation_p.A244T NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 244 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) AAGTGTTCGGCCGCCGACAGG 0.687000 18 52 0 0 0.007413 0 0 NEURL2 140825 broad.mit.edu 37 20 44519120 44519120 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:44519120G>C ENST00000372518.4 - 1 806 c.511C>G c.(511-513)Ctc>Gtc p.L171V NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 171 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) TGGTCCAAGAGATGGCTGTAG 0.657000 OREG0025985 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 77 0 0 0.006214 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939015 2939015 + Silent SNP G G A rs145991951 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:2939015G>A ENST00000378404.2 + 1 970 c.765G>A c.(763-765)ccG>ccA p.P255P NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 255 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCGGGGACCCGCTGCACCAGG 0.657000 11 62 0 0 0.013537 0 0 CCR3 1232 broad.mit.edu 37 3 46307687 46307687 + Silent SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:46307687A>T ENST00000357422.2 + 4 1581 c.1038A>T c.(1036-1038)acA>acT p.T346T CCR3_ENST00000545097.1_Silent_p.T367T|CCR3_ENST00000395942.2_Silent_p.T346T|CCR3_ENST00000395940.2_Silent_p.T346T|CCR3_ENST00000541018.1_Silent_p.T346T P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 346 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CTCCATCCACAGCAGAGCCGG 0.488000 14 28 0 0 0.004990 0 0 CDYL2 124359 broad.mit.edu 37 16 80654799 80654799 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr16:80654799C>T ENST00000299564.8 - 4 1023 c.868G>A c.(868-870)Gca>Aca p.A290T CDYL2_ENST00000563890.1_Missense_Mutation_p.A291T|CDYL2_ENST00000562812.1_Missense_Mutation_p.A291T|CDYL2_ENST00000566173.1_Missense_Mutation_p.A291T NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 290 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TCTGTGGCTGCGTTGCAGAGC 0.557000 9 40 0 0 0.004482 0 0 SNX16 64089 broad.mit.edu 37 8 82713776 82713776 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:82713776C>T ENST00000396330.2 - 9 1497 c.991G>A c.(991-993)Gag>Aag p.E331K SNX16_ENST00000345957.4_Missense_Mutation_p.E331K|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000353788.4_Missense_Mutation_p.E302K NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 331 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 ACTTCTATCTCTGATACAGCA 0.353000 5 107 0 0 0.001168 0 0 NOTCH2 4853 broad.mit.edu 37 1 120512221 120512221 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:120512221C>A ENST00000256646.2 - 6 1240 c.1021G>T c.(1021-1023)Gat>Tat p.D341Y NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 341 EGF-like 9; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGGCACAATCATCAATGTTC 0.562000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 57 6.31663e-08 8.97626e-08 0.003163 1 0 PRRC2C 23215 broad.mit.edu 37 1 171549100 171549100 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:171549100A>G ENST00000367742.3 + 28 7648 c.7406A>G c.(7405-7407)tAt>tGt p.Y2469C PRRC2C_ENST00000338920.4_Missense_Mutation_p.Y2467C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Y2469C|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Y2402C Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2467 Gln-rich. protein C-terminus binding CTTCAACCATATAGGTAAATG 0.448000 4 25 0 0 0.009096 0 0 DHRS7 51635 broad.mit.edu 37 14 60622827 60622827 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr14:60622827C>T ENST00000216500.5 - 3 632 c.177G>A c.(175-177)tcG>tcA p.S59S PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.S59S|DHRS7_ENST00000536410.2_Silent_p.S9S|PCNXL4_ENST00000406949.1_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 59 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) CAATTCCACTCGAGGCTCCAG 0.448000 10 86 0 0 0.010729 0 0 CLIP1 6249 broad.mit.edu 37 12 122839067 122839067 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:122839067G>A ENST00000358808.2 - 7 1394 c.1240C>T c.(1240-1242)Cga>Tga p.R414* CLIP1_ENST00000302528.7_Nonsense_Mutation_p.R414*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.R414*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.R115*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.R414*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.R414* NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 414 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ACCATTGTTCGCAGCTGGTCC 0.507000 12 60 0 0 0.013537 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883736 51883736 + Splice_Site SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:51883736G>A ENST00000453097.2 + 19 2917 c.e19+1 SLC4A8_ENST00000358657.3_Splice_Site NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TATCTTAAAGGTAATCATCCT 0.468000 10 64 0 0 0.010729 0 0 MRPS30 10884 broad.mit.edu 37 5 44813292 44813292 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:44813292G>A ENST00000507110.1 + 4 976 c.938G>A c.(937-939)aGa>aAa p.R313K NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 313 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) AGGCTTTTGAGACAAAACTGT 0.393000 4 42 0 0 0.009096 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349724 30349724 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:30349724T>G ENST00000327564.7 + 1 1701 c.1640T>G c.(1639-1641)aTa>aGa p.I547R LRRC37B_ENST00000584368.1_Missense_Mutation_p.I532R|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I438R|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I520R|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Missense_Mutation_p.I520R Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 520 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AGCACCAACATATGTGAGCTC 0.537000 57 164 0 0 0.014410 0 0 SRRT 51593 broad.mit.edu 37 7 100484783 100484783 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:100484783G>A ENST00000388793.4 + 15 2154 c.1934G>A c.(1933-1935)cGg>cAg p.R645Q SRRT_ENST00000347433.4_Missense_Mutation_p.R646Q|SRRT_ENST00000432932.1_Missense_Mutation_p.R645Q|SRRT_ENST00000457580.2_Missense_Mutation_p.R646Q NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 646 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCACGTTCGGGGGCCCATG 0.602000 26 184 0 0 0.007291 0 0 NAALADL2 254827 broad.mit.edu 37 3 175184818 175184818 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:175184818G>A ENST00000454872.1 + 8 1507 c.1379G>A c.(1378-1380)gGa>gAa p.G460E NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 460 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGTTATAATGGACAAGAATGG 0.408000 7 555 0 0 0.003080 0 0 LARGE 9215 broad.mit.edu 37 22 34157394 34157394 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:34157394T>C ENST00000354992.2 - 3 641 c.70A>G c.(70-72)Atc>Gtc p.I24V LARGE_ENST00000437602.2_Missense_Mutation_p.I24V|LARGE_ENST00000337431.2_Missense_Mutation_p.I24V|LARGE_ENST00000397394.2_Missense_Mutation_p.I24V|LARGE_ENST00000402320.1_Missense_Mutation_p.I24V NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 24 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ATCCAGGTGATGGCTGGGATG 0.507000 24 100 0 0 0.003954 0 0 AKAP1 8165 broad.mit.edu 37 17 55196358 55196358 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:55196358C>T ENST00000337714.3 + 10 2823 c.2590C>T c.(2590-2592)Cca>Tca p.P864S AKAP1_ENST00000571629.1_Missense_Mutation_p.P864S|AKAP1_ENST00000572557.1_Missense_Mutation_p.P864S|AKAP1_ENST00000539273.1_Missense_Mutation_p.P864S NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 864 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AAGTTACAGTCCAACTGGTCT 0.443000 70 261 0 0 0.014410 0 0 CUL3 8452 broad.mit.edu 37 2 225376090 225376090 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:225376090C>T ENST00000264414.4 - 6 1202 c.864G>A c.(862-864)ttG>ttA p.L288L CUL3_ENST00000344951.4_Silent_p.L222L|CUL3_ENST00000409096.1_Silent_p.L264L|CUL3_ENST00000409777.1_Silent_p.L264L NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 288 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTCCATTTTTCAACATATGTA 0.338000 24 110 0 0 0.003330 0 0 SI 6476 broad.mit.edu 37 3 164777770 164777770 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:164777770G>T ENST00000264382.3 - 10 1128 c.1066C>A c.(1066-1068)Caa>Aaa p.Q356K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 356 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CGACTTAGTTGGAATCCAAGA 0.363000 HNSCC(35;0.089) 44 420 1.22674e-20 1.84012e-20 0.008740 1 0 TMEM230 29058 broad.mit.edu 37 20 5086842 5086842 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:5086842T>G ENST00000379286.2 - 4 634 c.214A>C c.(214-216)Agc>Cgc p.S72R TMEM230_ENST00000342308.5_Missense_Mutation_p.S135R|TMEM230_ENST00000379279.2_Missense_Mutation_p.S72R|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379277.2_Missense_Mutation_p.S72R|TMEM230_ENST00000202834.7_Missense_Mutation_p.S72R|TMEM230_ENST00000379283.2_Missense_Mutation_p.S72R NM_001009924.1 NP_001009924.1 Q96A57 CT030_HUMAN transmembrane protein 230 72 integral to membrane ACCCCTTTGCTGATGTAGCCT 0.473000 3 85 0 0 0.004672 0 0 OR5T1 390155 broad.mit.edu 37 11 56043788 56043788 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:56043788T>C ENST00000313033.2 + 1 760 c.674T>C c.(673-675)aTt>aCt p.I225T NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) ACTATCCTGATTGTCCTGATC 0.428000 58 131 0 0 0.014410 0 0 TBL2 26608 broad.mit.edu 37 7 72987687 72987687 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:72987687G>A ENST00000305632.5 - 4 802 c.561C>T c.(559-561)caC>caT p.H187H TBL2_ENST00000452475.1_Silent_p.H187H|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.H151H NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 187 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CAGGCGCCTTGTGCTTTTTAG 0.557000 28 134 0 0 0.009535 0 0 NOL4 8715 broad.mit.edu 37 18 31538215 31538215 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:31538215C>T ENST00000261592.5 - 7 1521 c.1224G>A c.(1222-1224)ctG>ctA p.L408L NOL4_ENST00000589544.1_Silent_p.L408L|NOL4_ENST00000535384.1_Silent_p.L123L|NOL4_ENST00000538587.1_Silent_p.L334L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000269185.4_Silent_p.L294L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 408 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TAAAAGCTTTCAGCCGCTCGG 0.448000 40 85 0 0 0.007835 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898859 112898859 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:112898859C>T ENST00000374530.3 + 8 1215 c.1035C>T c.(1033-1035)caC>caT p.H345H AKAP2_ENST00000374525.1_Silent_p.H203H|AKAP2_ENST00000259318.7_Silent_p.H114H|AKAP2_ENST00000555236.1_Silent_p.H345H|PALM2-AKAP2_ENST00000302798.7_Silent_p.H345H|AKAP2_ENST00000510514.5_Silent_p.H345H|AKAP2_ENST00000434623.2_Silent_p.H203H NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 114 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CACCTCCTCACATCGAGCTCA 0.622000 9 62 0 0 0.004482 0 0 TRIM24 8805 broad.mit.edu 37 7 138239469 138239469 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:138239469A>T ENST00000343526.4 + 9 1503 c.1288A>T c.(1288-1290)Agc>Tgc p.S430C TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.S430C O15164 TIF1A_HUMAN tripartite motif containing 24 430 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 GGATAAAGAGAGCCAGCCACA 0.373000 11 114 0 0 0.010729 0 0 GRID2 2895 broad.mit.edu 37 4 94411922 94411922 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:94411922C>T ENST00000282020.4 + 12 2249 c.1991C>T c.(1990-1992)tCc>tTc p.S664F GRID2_ENST00000510992.1_Missense_Mutation_p.S569F NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 664 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTGAAAGTTCCATCCAGTAA 0.393000 13 45 0 0 0.003163 0 0 ZNF208 7757 broad.mit.edu 37 19 22157159 22157159 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:22157159T>C ENST00000397126.4 - 4 825 c.677A>G c.(676-678)gAg>gGg p.E226G ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GTAGGGTTTCTCTCCAGTATG 0.358000 15 57 0 0 0.004007 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098454 78098454 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:78098454T>C ENST00000370801.3 - 5 1061 c.586A>G c.(586-588)Atc>Gtc p.I196V ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TAGCCTGTGATTTCTTCAACT 0.398000 9 94 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179669322 179669322 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:179669322C>T ENST00000589042.1 - 2 272 c.48G>A c.(46-48)gtG>gtA p.V16V TTN_ENST00000591111.1_Silent_p.V16V|TTN_ENST00000460472.2_Silent_p.V16V|TTN_ENST00000359218.5_Silent_p.V16V|TTN_ENST00000342175.6_Silent_p.V16V|TTN_ENST00000342992.6_Silent_p.V16V|TTN_ENST00000360870.5_Silent_p.V16V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16 Ig-like 1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCAGTACCACAACGCTTT 0.438000 14 59 0 0 0.004990 0 0 TBX22 50945 broad.mit.edu 37 X 79286052 79286052 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chrX:79286052G>T ENST00000442340.1 + 9 1135 c.645G>T c.(643-645)ttG>ttT p.L215F TBX22_ENST00000373294.5_Missense_Mutation_p.L335F|TBX22_ENST00000373291.1_Missense_Mutation_p.L215F|TBX22_ENST00000373296.3_Missense_Mutation_p.L335F NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 335 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CCTCTCCTTTGAACTCCTTAC 0.473000 34 43 1.02151e-06 1.4196e-06 0.013726 1 0 LOC645752 645752 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 48 0 0 0.009096 0 0 SHANK2 22941 broad.mit.edu 37 11 70332717 70332717 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70332717C>A ENST00000338508.4 - 32 3683 c.3684G>T c.(3682-3684)atG>atT p.M1228I SHANK2_ENST00000423696.2_Missense_Mutation_p.M848I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M631I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M632I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 848 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGACTCCTTCATGGCTCGGT 0.627000 25 506 3.01185e-09 4.31242e-09 0.003954 1 0 OLR1 4973 broad.mit.edu 37 12 10313470 10313470 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:10313470G>A ENST00000309539.3 - 4 539 c.479C>T c.(478-480)tCg>tTg p.S160L OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.S160L|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_Intron NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 160 C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 AAATGAGCCCGAGGAAAATAG 0.428000 38 110 0 0 0.005524 0 0 OR52K1 390036 broad.mit.edu 37 11 4510853 4510853 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:4510853G>A ENST00000307632.3 + 1 745 c.723G>A c.(721-723)ggG>ggA p.G241G NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) AGGCATTTGGGACATGTGTGT 0.537000 55 121 0 0 0.014410 0 0 GPR37 2861 broad.mit.edu 37 7 124404598 124404598 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:124404598A>T ENST00000303921.2 - 1 1083 c.433T>A c.(433-435)Ttc>Atc p.F145I NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 145 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATCTGAAGGAAGAGCTGGAGG 0.627000 17 154 0 0 0.007413 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10203335 10203335 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:10203335C>G ENST00000253109.4 - 6 1581 c.1343G>C c.(1342-1344)tGg>tCg p.W448S ANGPTL6_ENST00000592641.1_Missense_Mutation_p.W448S|C19orf66_ENST00000253110.11_3'UTR|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.W408S NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 448 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) AAACTCAGCCCAGTAGACACC 0.617000 28 83 0 0 0.005443 0 0 FLG 2312 broad.mit.edu 37 1 152282297 152282297 + Missense_Mutation SNP C C G rs139417173 by1000genomes TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:152282297C>G ENST00000368799.1 - 3 5100 c.5065G>C c.(5065-5067)Gca>Cca p.A1689P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1689 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTGTCTGCTGACTGCTGG 0.572000 Ichthyosis 156 410 0 0 0.014410 0 0 FLAD1 80308 broad.mit.edu 37 1 154961254 154961254 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:154961254G>A ENST00000368433.1 + 2 1389 c.1046G>A c.(1045-1047)gGa>gAa p.G349E FLAD1_ENST00000368432.1_Missense_Mutation_p.G252E|FLAD1_ENST00000295530.2_Missense_Mutation_p.G82E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.G250E|FLAD1_ENST00000315144.10_Missense_Mutation_p.G252E|FLAD1_ENST00000405236.2_Missense_Mutation_p.G250E|FLAD1_ENST00000292180.3_Missense_Mutation_p.G349E Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 349 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCCCCAGGGATCGCTGGTC 0.562000 16 83 0 0 0.004007 0 0 ING1 3621 broad.mit.edu 37 13 111371619 111371619 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr13:111371619C>T ENST00000375774.3 + 2 1071 c.609C>T c.(607-609)cgC>cgT p.R203R ING1_ENST00000333219.7_Silent_p.R60R|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Silent_p.R16R|ING1_ENST00000375775.3_5'UTR NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 203 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCTTCAGTCGCGAGACAGACG 0.647000 13 91 0 0 0.004007 0 0 ODAM 54959 broad.mit.edu 37 4 71063726 71063726 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:71063726C>A ENST00000396094.2 + 4 275 c.227C>A c.(226-228)tCt>tAt p.S76Y NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 76 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 TCCCAGTTCTCTTTATCAGCT 0.478000 52 141 2.48909e-17 3.70423e-17 0.014410 1 0 SMUG1 23583 broad.mit.edu 37 12 54576251 54576251 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:54576251G>T ENST00000508394.2 - 3 504 c.442C>A c.(442-444)Ctc>Atc p.L148I SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.L148I|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.L148I|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron NM_001243787.1|NM_001243788.1|NM_014311.2 NP_001230716.1|NP_001230717.1|NP_055126.1 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 148 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 TGTCCACAGAGGTTCCGGAAA 0.567000 Base excision repair (BER), DNA glycosylases 17 109 1.15088e-07 1.61123e-07 0.004007 1 0 POTEA 340441 broad.mit.edu 37 8 43157231 43157231 + RNA SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:43157231G>C ENST00000522175.2 + 0 697 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGAAGATTATGCAGTTTCTAG 0.294000 14 52 0 0 0.001855 0 0 DSP 1832 broad.mit.edu 37 6 7585963 7585963 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:7585963C>T ENST00000379802.3 + 24 8809 c.8468C>T c.(8467-8469)cCg>cTg p.P2823L DSP_ENST00000418664.2_Missense_Mutation_p.P2224L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2823 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCTTCGGCTCCGGGGtcccgc 0.632000 5 120 0 0 0.000602 0 0 SMCHD1 23347 broad.mit.edu 37 18 2673310 2673310 + Nonsense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:2673310C>G ENST00000320876.6 + 4 793 c.455C>G c.(454-456)tCa>tGa p.S152* SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.S152* NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 152 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ATTGACAATTCATTGTCTGCT 0.328000 8 22 0 0 0.004482 0 0 EEF1E1 9521 broad.mit.edu 37 6 8102742 8102742 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr6:8102742C>A ENST00000379715.5 - 1 69 c.13G>T c.(13-15)Gca>Tca p.A5S EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5S|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5S|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5S NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 5 negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) GACAACTCTGCGGCCGCCGCC 0.602000 5 47 2.0095e-06 2.75214e-06 0.001984 1 0 FNBP4 23360 broad.mit.edu 37 11 47741494 47741494 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:47741494G>A ENST00000263773.5 - 16 2962 c.2950C>T c.(2950-2952)Cag>Tag p.Q984* NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 984 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ACCAGCTGCTGCTGTTTCCAC 0.443000 12 60 0 0 0.013537 0 0 TSPAN19 144448 broad.mit.edu 37 12 85421708 85421708 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:85421708A>G ENST00000532498.2 - 4 313 c.233T>C c.(232-234)aTt>aCt p.I78T TSPAN19_ENST00000547403.2_Intron NM_001100917.1 NP_001094387.1 P0C672 TSN19_HUMAN tetraspanin 19 78 integral to membrane ovary(1) 1 TTCGTTGTGAATTCCTATATA 0.299000 3 13 0 0 0.004672 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 55 0 0 0.004672 0 0 CSE1L 1434 broad.mit.edu 37 20 47704564 47704564 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:47704564C>A ENST00000262982.2 + 17 1865 c.1742C>A c.(1741-1743)tCt>tAt p.S581Y CSE1L_ENST00000542325.1_Missense_Mutation_p.S364Y|CSE1L_ENST00000396192.3_Missense_Mutation_p.S525Y NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 581 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGAAGTTTTTCTCTCCTACAA 0.373000 11 27 2.80697e-09 4.04976e-09 0.010729 1 0 ZSCAN5A 79149 broad.mit.edu 37 19 56734095 56734095 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:56734095G>A ENST00000587340.1 - 6 1299 c.604C>T c.(604-606)Cta>Tta p.L202L ZSCAN5A_ENST00000391713.1_Silent_p.L202L|ZSCAN5A_ENST00000254165.3_Silent_p.L85L|ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 202 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTCTTGTGTAGCAGAAAGTCC 0.488000 17 68 0 0 0.004990 0 0 NRP2 8828 broad.mit.edu 37 2 206562314 206562314 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:206562314C>T ENST00000360409.3 + 2 911 c.120C>T c.(118-120)atC>atT p.I40I NRP2_ENST00000417189.1_Silent_p.I40I|NRP2_ENST00000272849.3_Silent_p.I40I|NRP2_ENST00000540841.1_Silent_p.I40I|NRP2_ENST00000357785.5_Silent_p.I40I|NRP2_ENST00000355117.4_Silent_p.I40I|NRP2_ENST00000412873.2_Silent_p.I40I|NRP2_ENST00000540178.1_Silent_p.I40I|NRP2_ENST00000357118.4_Silent_p.I40I NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 40 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CTGGCTATATCACCTCTCCCG 0.498000 62 371 0 0 0.014410 0 0 FRY 10129 broad.mit.edu 37 13 32798468 32798468 + Missense_Mutation SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr13:32798468C>A ENST00000380250.3 + 37 5358 c.4862C>A c.(4861-4863)gCc>gAc p.A1621D NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1621 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGATGCTGGGCCCCCCTGGTT 0.572000 26 68 2.44723e-14 3.61349e-14 0.004656 1 0 THADA 63892 broad.mit.edu 37 2 43801884 43801884 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:43801884C>T ENST00000403856.1 - 12 1467 c.1320G>A c.(1318-1320)ttG>ttA p.L440L THADA_ENST00000404790.1_Silent_p.L440L|THADA_ENST00000402360.2_Silent_p.L440L|THADA_ENST00000330266.7_Silent_p.L150L|THADA_ENST00000405975.2_Silent_p.L440L|THADA_ENST00000405006.4_Silent_p.L440L|THADA_ENST00000415080.2_Silent_p.L150L Q6YHU6 THADA_HUMAN thyroid adenoma associated 440 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GACTCTCAGTCAATTCCACAA 0.418000 34 83 0 0 0.003271 0 0 FAT1 2195 broad.mit.edu 37 4 187557927 187557927 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:187557927G>A ENST00000441802.2 - 5 3993 c.3784C>T c.(3784-3786)Cga>Tga p.R1262* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1262 Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTTCTTTCTCGGTCTGGCTTT 0.478000 HNSCC(5;0.00058) 119 168 0 0 0.014410 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263131 140263131 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:140263131C>T ENST00000289272.2 + 1 1278 c.1278C>T c.(1276-1278)acC>acT p.T426T PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T426T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGTGACCGCGCGGGACG 0.657000 34 157 0 0 0.013726 0 0 ZNF639 51193 broad.mit.edu 37 3 179051488 179051488 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:179051488A>G ENST00000326361.3 + 7 1181 c.736A>G c.(736-738)Atg>Gtg p.M246V ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.M246V|ZNF639_ENST00000484866.1_Missense_Mutation_p.M246V NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 246 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTCTACCAATATGCTTCTGAT 0.368000 46 124 0 0 0.014410 0 0 MFN1 55669 broad.mit.edu 37 3 179082965 179082965 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:179082965C>T ENST00000471841.1 + 7 831 c.705C>T c.(703-705)ctC>ctT p.L235L MFN1_ENST00000280653.7_Silent_p.L235L|MFN1_ENST00000263969.5_Silent_p.L235L NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 235 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TTTTCATTCTCAATAATCGTT 0.338000 10 164 0 0 0.013537 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289628 18289628 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr10:18289628C>T ENST00000377369.2 + 11 1906 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L SLC39A12_ENST00000377374.4_Silent_p.L508L|SLC39A12_ENST00000377371.3_Silent_p.L544L|SLC39A12_ENST00000539911.1_Silent_p.L411L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 545 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AATCATGATTCTGGTTGGGGA 0.423000 21 58 0 0 0.010504 0 0 PIK3IP1 113791 broad.mit.edu 37 22 31679217 31679217 + Silent SNP T T A rs145125391 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:31679217T>A ENST00000215912.5 - 6 828 c.645A>T c.(643-645)cgA>cgT p.R215R PIK3IP1_ENST00000487265.2_Silent_p.R136R|PIK3IP1_ENST00000441972.1_3'UTR NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 215 integral to membrane large_intestine(2)|lung(1)|ovary(1) 4 GCAGAGTGATTCGCTGCATCT 0.507000 15 71 0 0 0.003163 0 0 CILP 8483 broad.mit.edu 37 15 65490732 65490732 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:65490732T>C ENST00000261883.4 - 9 2058 c.1892A>G c.(1891-1893)aAt>aGt p.N631S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 631 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TGTGGAAATATTCCGGGGATC 0.517000 51 124 0 0 0.014410 0 0 CSPG4 1464 broad.mit.edu 37 15 75981392 75981392 + Nonsense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:75981392G>A ENST00000308508.5 - 3 2106 c.2014C>T c.(2014-2016)Cga>Tga p.R672* NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 672 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGGGCCAGTCGCAACCCTGTG 0.672000 13 86 0 0 0.002450 0 0 C8A 731 broad.mit.edu 37 1 57340684 57340684 + Silent SNP C C A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:57340684C>A ENST00000361249.3 + 3 330 c.234C>A c.(232-234)atC>atA p.I78I NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 78 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GTGGTGACATCTGGGATCAAG 0.488000 16 28 1.15088e-07 1.61123e-07 0.004007 1 0 ABCA9 10350 broad.mit.edu 37 17 66978771 66978771 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:66978771A>G ENST00000340001.4 - 37 4863 c.4652T>C c.(4651-4653)cTg>cCg p.L1551P ABCA9_ENST00000453985.2_Missense_Mutation_p.L1513P|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1551 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATAGACCATCAGGGAGGAGAA 0.463000 3 106 0 0 0.009096 0 0 ADAM19 8728 broad.mit.edu 37 5 156934146 156934146 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:156934146C>T ENST00000257527.4 - 10 986 c.908G>A c.(907-909)gGc>gAc p.G303D ADAM19_ENST00000394020.1_Missense_Mutation_p.G305D|ADAM19_ENST00000430702.2_Missense_Mutation_p.G36D|ADAM19_ENST00000517905.1_Missense_Mutation_p.G303D NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 303 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGGACATGCCCCTGCAGGA 0.622000 4 75 0 0 0.009096 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727227 50727227 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr22:50727227C>T ENST00000449103.1 - 5 1465 c.1325G>A c.(1324-1326)cGc>cAc p.R442H PLXNB2_ENST00000359337.4_Missense_Mutation_p.R442H O15031 PLXB2_HUMAN plexin B2 442 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TACCAGGTCGCGCTTGACTCT 0.607000 10 40 0 0 0.006214 0 0 UBTF 7343 broad.mit.edu 37 17 42288993 42288993 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:42288993T>C ENST00000302904.4 - 10 1520 c.1028A>G c.(1027-1029)tAt>tGt p.Y343C UBTF_ENST00000533177.1_Missense_Mutation_p.Y306C|UBTF_ENST00000529383.1_Missense_Mutation_p.Y343C|UBTF_ENST00000526094.1_Missense_Mutation_p.Y306C|UBTF_ENST00000436088.1_Missense_Mutation_p.Y343C|UBTF_ENST00000393606.3_Missense_Mutation_p.Y306C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.Y306C|UBTF_ENST00000527034.1_Missense_Mutation_p.Y306C P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 343 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CTTCTTGTGATAGGCGTCCTT 0.587000 31 134 0 0 0.013726 0 0 PEX11A 8800 broad.mit.edu 37 15 90226795 90226795 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:90226795C>T ENST00000300056.3 - 3 706 c.557G>A c.(556-558)cGa>cAa p.R186Q PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R155Q|PEX11A_ENST00000561224.1_Intron NM_001271573.1 NP_001258502.1 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 186 cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane endometrium(2)|large_intestine(2)|lung(3) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTTCAGAGATCGGAATAAAAG 0.473000 40 232 0 0 0.005524 0 0 DPY19L3 147991 broad.mit.edu 37 19 32930743 32930743 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:32930743A>G ENST00000342179.5 + 8 997 c.782A>G c.(781-783)aAt>aGt p.N261S DPY19L3_ENST00000392250.2_Missense_Mutation_p.N261S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N261S NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 261 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TGGCAATTTAATCAATTTATG 0.388000 28 49 0 0 0.005443 0 0 KCNV1 27012 broad.mit.edu 37 8 110980374 110980374 + Silent SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:110980374C>T ENST00000524391.1 - 4 2478 c.1446G>A c.(1444-1446)ctG>ctA p.L482L KCNV1_ENST00000297404.1_Silent_p.L482L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 482 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTCTGCCTTTCAGTCGCAGCA 0.388000 10 35 0 0 0.008291 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28307044 28307044 + Missense_Mutation SNP C C A rs142161826 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr21:28307044C>A ENST00000284987.5 - 4 1551 c.1430G>T c.(1429-1431)cGa>cTa p.R477L AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 477 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GATCTGCTTTCGTGGTAGGTC 0.507000 8 43 1.12685e-05 1.52125e-05 0.004482 1 0 MED12L 116931 broad.mit.edu 37 3 151101967 151101967 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:151101967G>T ENST00000474524.1 + 33 4820 c.4782G>T c.(4780-4782)gaG>gaT p.E1594D MED12L_ENST00000273432.4_Missense_Mutation_p.E1454D|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1594 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATCTGAAGAGAACAAGCGTG 0.378000 50 44 6.3237e-29 9.63854e-29 0.014410 1 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 13 0 0 0.009096 0 0 RFC5 5985 broad.mit.edu 37 12 118467588 118467588 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:118467588C>G ENST00000392542.2 + 11 1354 c.821C>G c.(820-822)tCt>tGt p.S274C RFC5_ENST00000229043.3_Missense_Mutation_p.S210C|RFC5_ENST00000454402.2_Missense_Mutation_p.S295C|RFC5_ENST00000543153.1_3'UTR NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 295 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACTTTCCATCTTCAGTTCGA 0.373000 20 101 0 0 0.010504 0 0 TCERG1 10915 broad.mit.edu 37 5 145836812 145836812 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:145836812G>A ENST00000296702.5 + 3 390 c.352G>A c.(352-354)Gga>Aga p.G118R TCERG1_ENST00000394421.2_Missense_Mutation_p.G118R NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 118 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTTCCACCAGGAATGCCTCC 0.453000 18 81 0 0 0.004990 0 0 GAREM 64762 broad.mit.edu 37 18 29867548 29867548 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:29867548C>T ENST00000399218.4 - 4 1067 c.1012G>A c.(1012-1014)Gag>Aag p.E338K GAREM_ENST00000269209.6_Missense_Mutation_p.E338K|RP11-344B2.2_ENST00000579580.1_RNA NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CGTGAATACTCATCGATGTCG 0.547000 13 103 0 0 0.001855 0 0 USP31 57478 broad.mit.edu 37 16 23117561 23117561 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr16:23117561G>A ENST00000219689.7 - 4 925 c.926C>T c.(925-927)tCt>tTt p.S309F NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 309 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) AATTGGCAAAGAAATGCAAAG 0.383000 6 42 0 0 0.003080 0 0 CNTN6 27255 broad.mit.edu 37 3 1367528 1367528 + Missense_Mutation SNP A A T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:1367528A>T ENST00000446702.2 + 9 1603 c.976A>T c.(976-978)Aat>Tat p.N326Y CNTN6_ENST00000350110.2_Missense_Mutation_p.N326Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.N254Y Q9UQ52 CNTN6_HUMAN contactin 6 326 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAAAATCCAAAATACACACCT 0.403000 11 40 0 0 0.008291 0 0 MAPK9 5601 broad.mit.edu 37 5 179669687 179669687 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:179669687G>T ENST00000452135.2 - 8 1055 c.757C>A c.(757-759)Cag>Aag p.Q253K MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q253K|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q253K|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q253K P45984 MK09_HUMAN mitogen-activated protein kinase 9 253 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGTTGGCTGAAGTTTCTTC 0.388000 5 46 1.23904e-05 1.66084e-05 0.000602 1 0 IFNAR2 3455 broad.mit.edu 37 21 34624976 34624976 + Missense_Mutation SNP G G A rs147789575 byFrequency TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr21:34624976G>A ENST00000404220.3 + 7 879 c.550G>A c.(550-552)Gaa>Aaa p.E184K IFNAR2_ENST00000342136.4_Missense_Mutation_p.E184K|IFNAR2_ENST00000413881.1_Missense_Mutation_p.E112K|IFNAR2_ENST00000382264.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000342101.3_Missense_Mutation_p.E184K|AP000295.9_ENST00000433395.2_Silent_p.P91P P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 184 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GCATAAACCCGAAATAAAAGG 0.333000 12 25 0 0 0.013537 0 0 RPS23 6228 broad.mit.edu 37 5 81571953 81571953 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:81571953C>T ENST00000296674.8 - 4 660 c.407G>A c.(406-408)gGc>gAc p.G136D RPS23_ENST00000510210.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000510019.1_Splice_Site_p.G78_splice NM_001025.4 NP_001016.1 P62266 RS23_HUMAN ribosomal protein S23 136 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome prostate(1) 1 Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31) TTCCTTCTTGCCTTTGTATAG 0.383000 8 68 0 0 0.004482 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841649 8841649 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr19:8841649C>T ENST00000324060.2 + 1 334 c.259C>T c.(259-261)Cgg>Tgg p.R87W NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGACTTTCTGCGGGGAGAAGG 0.552000 19 74 0 0 0.008871 0 0 NEK2 4751 broad.mit.edu 37 1 211843718 211843718 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr1:211843718G>C ENST00000366999.4 - 5 808 c.670C>G c.(670-672)Ctc>Gtc p.L224V NEK2_ENST00000366998.3_Missense_Mutation_p.L224V|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.L181V NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 224 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) TTCCCAGCGAGTTCTTTCTGG 0.343000 19 202 0 0 0.008871 0 0 ASB5 140458 broad.mit.edu 37 4 177143474 177143474 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:177143474G>C ENST00000296525.3 - 3 487 c.374C>G c.(373-375)gCa>gGa p.A125G ASB5_ENST00000512254.1_Missense_Mutation_p.A72G|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 125 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATTAGCTCCTGCTTCCAGCAG 0.418000 6 48 0 0 0.001168 0 0 STEAP4 79689 broad.mit.edu 37 7 87913481 87913481 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:87913481C>T ENST00000380079.4 - 2 205 c.104G>A c.(103-105)gGa>gAa p.G35E AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 35 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CATTTTCAATCCCAGTGATCT 0.413000 10 100 0 0 0.006214 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 78 0 0 0.004672 0 0 RPS23 6228 broad.mit.edu 37 5 81571952 81571952 + Splice_Site SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:81571952G>A ENST00000510019.1 - 4 306 c.232_splice c.e4-1 p.G78_splice RPS23_ENST00000510210.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000296674.8_Silent_p.G136G P62266 RS23_HUMAN ribosomal protein S23 78 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome prostate(1) 1 Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31) TTTCCTTCTTGCCTTTGTATA 0.378000 8 67 0 0 0.004482 0 0 TXNRD1 7296 broad.mit.edu 37 12 104725379 104725379 + Missense_Mutation SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:104725379A>G ENST00000526691.1 + 12 1772 c.1316A>G c.(1315-1317)gAg>gGg p.E439G TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439G|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387G|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387G|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431G|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537G|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486G|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502G|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387G|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437G|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456G|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537G|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431G|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349G|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E349G NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 537 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 GGCCTTTCTGAGGAGAAAGCT 0.348000 4 22 0 0 0.000602 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128558 150128558 + Missense_Mutation SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:150128558G>A ENST00000361875.2 + 1 2437 c.1421G>A c.(1420-1422)gGg>gAg p.G474E TSC22D2_ENST00000361136.2_Missense_Mutation_p.G474E NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 474 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGTCCTGCCGGGGCTGGGCAG 0.726000 6 44 0 0 0.003080 0 0 ZEB2 9839 broad.mit.edu 37 2 145147391 145147391 + Missense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:145147391G>T ENST00000558170.2 - 10 4456 c.3272C>A c.(3271-3273)gCg>gAg p.A1091E ZEB2_ENST00000303660.4_Missense_Mutation_p.A1091E|ZEB2_ENST00000539609.3_Missense_Mutation_p.A1067E|ZEB2_ENST00000409487.3_Missense_Mutation_p.A1091E NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1091 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTCGCGCTCCGCCGCTTCCCG 0.602000 17 91 5.01169e-05 6.67049e-05 0.004990 1 0 CBLN4 140689 broad.mit.edu 37 20 54578941 54578941 + Missense_Mutation SNP T T G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:54578941T>G ENST00000064571.2 - 1 1587 c.287A>C c.(286-288)gAt>gCt p.D96A NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 96 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) TCTGACCTGATCGAAGTAAAT 0.647000 30 192 0 0 0.004878 0 0 NOTCH1 4851 broad.mit.edu 37 9 139407980 139407980 + Nonsense_Mutation SNP G G T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr9:139407980G>T ENST00000277541.6 - 14 2292 c.2217C>A c.(2215-2217)tgC>tgA p.C739* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 739 EGF-like 19; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTCACAGTCGCACTTGTACC 0.612000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 16 9 3.41278e-10 4.96166e-10 0.004990 1 0 C15orf60 283677 broad.mit.edu 37 15 73766183 73766183 + Missense_Mutation SNP C C G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:73766183C>G ENST00000331090.6 + 2 198 c.170C>G c.(169-171)tCc>tGc p.S57C C15orf60_ENST00000560581.1_Missense_Mutation_p.S57C NM_001042367.1 NP_001035826.1 Q7Z4M0 CO060_HUMAN chromosome 15 open reading frame 60 57 endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2) 17 GTTTTTGATTCCAATGAAGAA 0.323000 5 6 0 0 0.001168 0 0 RANBP2 5903 broad.mit.edu 37 2 109382140 109382140 + Silent SNP C C T rs139290272 byFrequency TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:109382140C>T ENST00000283195.6 + 20 5271 c.5145C>T c.(5143-5145)agC>agT p.S1715S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1715 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTCCAAAGAGCGGATTTGAGG 0.428000 25 130 0 0 0.006320 0 0 ABHD1 84696 broad.mit.edu 37 2 27352690 27352690 + Missense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr2:27352690C>T ENST00000316470.4 + 6 800 c.686C>T c.(685-687)tCt>tTt p.S229F NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 229 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGACTCTGTCTGCATGCTGG 0.567000 16 81 0 0 0.003163 0 0 ITPR2 3709 broad.mit.edu 37 12 26808652 26808652 + Silent SNP G G A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr12:26808652G>A ENST00000381340.3 - 20 2994 c.2578C>T c.(2578-2580)Ctg>Ttg p.L860L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 860 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCAAATGTCAGTTTATTTTTT 0.313000 20 58 0 0 0.007413 0 0 SORBS3 10174 broad.mit.edu 37 8 22429318 22429318 + Nonsense_Mutation SNP C C T TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr8:22429318C>T ENST00000240123.7 + 19 2214 c.1831C>T c.(1831-1833)Cag>Tag p.Q611* SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269* NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 611 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding p.Q611*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TAACACCTCTCAGATACACTG 0.607000 12 77 0 0 0.013537 0 0 USP53 54532 broad.mit.edu 37 4 120177469 120177469 + Silent SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr4:120177469A>G ENST00000450251.1 + 4 985 c.441A>G c.(439-441)aaA>aaG p.K147K USP53_ENST00000274030.6_Silent_p.K147K Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 147 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GTACCTCTAAATCTTGTATCA 0.323000 5 8 0 0 0.001168 0 0 ATR 545 broad.mit.edu 37 3 142176524 142176524 + Frame_Shift_Del DEL A A - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:142176524delA ENST00000350721.4 - 45 7698 c.7577delT c.(7576-7578)agfs p.M2526fs ATR_ENST00000383101.3_Frame_Shift_Del_p.M2462fs NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2526 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTCTGTTCCCATAGGACCCAT 0.388 Other conserved DNA damage response genes 10 108 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160150162 160150162 + Frame_Shift_Del DEL A A - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr3:160150162delA ENST00000357388.3 + 22 3840 c.3389delA c.(3388-3390)cafs p.Q1130fs SMC4_ENST00000469762.1_Frame_Shift_Del_p.Q1105fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.Q1130fs|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 1130 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCGGAAACAAAGGCTTAAT 0.348 29 55 --- --- --- --- SEMA5A 9037 broad.mit.edu 37 5 9054270 9054270 + Frame_Shift_Del DEL G G - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr5:9054270delG ENST00000382496.5 - 19 3283 c.2618delC c.(2617-2619)cgfs p.P873fs NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 873 TSP type-1 6. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCCATAGGCCGGGGCTGGATT 0.607 10 66 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345610 100345611 + RNA INS - - AA rs71686325 TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr7:100345610_100345611insAA ENST00000542585.1 + 0 1171 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) gcaagactctgaaaaaaaaaaa 0.505 3 3 --- --- --- --- CTTN 2017 broad.mit.edu 37 11 70275169 70275178 + Frame_Shift_Del DEL CAAGTAACAT CAAGTAACAT - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr11:70275169_70275178delCAAGTAACAT ENST00000301843.8 + 14 1246_1255 c.1040_1049delCAAGTAACAT c.(1039-1050)acfs p.TSNI347fs CTTN_ENST00000376561.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000346329.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000538675.1_Frame_Shift_Del_p.TSNI31fs NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 347 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) ACCAGCAAAACAAGTAACATCAGAGCTAAC 0.567 18 1368 --- --- --- --- FSD2 123722 broad.mit.edu 37 15 83434772 83434772 + Frame_Shift_Del DEL C C - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr15:83434772delC ENST00000334574.8 - 10 1746 c.1565delG c.(1564-1566)gcfs p.G522fs FSD2_ENST00000541889.1_Frame_Shift_Del_p.G477fs A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 522 Fibronectin type-III 2. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GGTCGGGATGCCCACAACAGA 0.597 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577516 7577517 + Frame_Shift_Ins INS - - A TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:7577516_7577517insA ENST00000420246.2 - 7 896_897 c.764_765insT c.(763-765)aacfs p.N255fs TP53_ENST00000359597.4_Frame_Shift_Ins_p.N255fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N255fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 255 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I255S(10)|p.0?(8)|p.I255del(7)|p.I255N(7)|p.I255T(7)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.T256del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTCCAGTGTGATGATGGTGAG 0.584 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 63 --- --- --- --- MFAP4 4239 broad.mit.edu 37 17 19290122 19290123 + In_Frame_Ins INS - - AGC TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr17:19290122_19290123insAGC ENST00000395592.2 - 2 178_179 c.107_108insGCT c.(106-108)cct>cGCTct p.36_36P>RS MFAP4_ENST00000299610.4_In_Frame_Ins_p.12_12P>RS|MFAP4_ENST00000497081.2_In_Frame_Ins_p.37_37P>RS NM_001198695.1 NP_001185624.1 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 12 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) GCGTGGAGAGAAGCAGCAGCAG 0.649 3 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61cd2198-d85e-4eae-b9c6-e36be372595b ac954060-b4d9-4a3c-8922-a7dcb8d79074 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---