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 HMGXB4 10042 broad.mit.edu 37 22 35660938 35660938 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:35660938A>G ENST00000216106.5 + 5 685 c.557A>G c.(556-558)gAg>gGg p.E186G HMGXB4_ENST00000444518.2_Missense_Mutation_p.E77G NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 186 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCCTTCGGGAGCCTGATGGT 0.463000 36 174 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88936012 88936012 + Silent SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:88936012G>T ENST00000556564.1 - 17 3350 c.3066C>A c.(3064-3066)acC>acA p.T1022T PTPN21_ENST00000328736.3_Silent_p.T1022T NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1022 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ACCTTCCATAGGTGACAGTGT 0.517000 9 55 1.76689e-08 1.93952e-08 1 1 0 ADCY8 114 broad.mit.edu 37 8 132002670 132002670 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:132002670C>T ENST00000286355.5 - 2 3171 c.1079G>A c.(1078-1080)aGg>aAg p.R360K ADCY8_ENST00000377928.3_Missense_Mutation_p.R360K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 360 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAGGCGCAGCCTGGCCTCCAC 0.502000 HNSCC(32;0.087) 33 165 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101187376 101187376 + RNA SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:101187376T>A ENST00000313669.7 + 0 894 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CGGGGCCGCCTGGTAAGAAAA 0.652000 3 9 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583519 7583519 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:7583519C>G ENST00000379802.3 + 24 6365 c.6024C>G c.(6022-6024)atC>atG p.I2008M DSP_ENST00000418664.2_Missense_Mutation_p.I1409M NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2008 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) CTTCTGAAATCCAGCCATTCC 0.453000 14 96 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391421 61391421 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:61391421C>G ENST00000370501.3 + 4 1430 c.1059C>G c.(1057-1059)ttC>ttG p.F353L NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 353 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ACGCACTCTTCTACGTCAGCT 0.577000 15 232 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1212490 1212490 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:1212490C>T ENST00000304460.10 + 4 610 c.554C>T c.(553-555)aCg>aTg p.T185M NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 185 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AACATCTCCACGTCCATCAGC 0.617000 18 122 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67787482 67787482 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:67787482C>G ENST00000262345.1 + 3 914 c.274C>G c.(274-276)Ctt>Gtt p.L92V IL12RB2_ENST00000371000.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L92V NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 92 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AGTCACAGGTCTTCCCCTTGG 0.423000 14 190 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 9 83 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11341183 11341183 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:11341183G>C ENST00000315872.6 - 23 3258 c.2810C>G c.(2809-2811)tCt>tGt p.S937C ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 937 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTCCAAATCAGAATATTGTTC 0.413000 16 143 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284113 33284113 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:33284113G>T ENST00000431845.2 - 2 732 c.581C>A c.(580-582)tCc>tAc p.S194Y ZBTB22_ENST00000418724.1_Missense_Mutation_p.S194Y NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GGCCCGGCTGGAGGCATGGGA 0.622000 5 47 0.000602214 0.000621746 1 1 0 PHIP 55023 broad.mit.edu 37 6 79665371 79665371 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:79665371G>A ENST00000275034.4 - 33 3978 c.3811C>T c.(3811-3813)Ctt>Ttt p.L1271F PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1271 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GAATTATAAAGTGGAATTATG 0.239000 4 38 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150067675 150067675 + Missense_Mutation SNP A A G rs10872646 by1000genomes TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:150067675A>G ENST00000367403.3 - 1 139 c.140T>C c.(139-141)gTa>gCa p.V47A NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 0 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CAAGCACAGTACGCGCCTCTC 0.552000 OREG0017720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 76 0 0 1 0 0 STAM2 10254 broad.mit.edu 37 2 152989924 152989924 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:152989924T>C ENST00000263904.4 - 9 1223 c.874A>G c.(874-876)Ata>Gta p.I292V NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 292 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) ACCTCATCTATATAAACAGGC 0.318000 24 106 0 0 1 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938343 116938343 + Nonsense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:116938343C>G ENST00000229554.5 + 1 694 c.557C>G c.(556-558)tCa>tGa p.S186* RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S186*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S186* NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 186 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAGGAAGACTCAAACAGTGAC 0.512000 Kartagener syndrome 20 180 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112987215 112987215 + Missense_Mutation SNP C C T rs139434929 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:112987215C>T ENST00000495514.1 + 5 1150 c.446C>T c.(445-447)gCc>gTc p.A149V BOC_ENST00000273395.4_Missense_Mutation_p.A149V|BOC_ENST00000355385.3_Missense_Mutation_p.A149V Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 149 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GCAGTCATTGCCTGCCACCTG 0.572000 3 15 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110232203 110232203 + Silent SNP G G A rs140533102 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:110232203G>A ENST00000418703.2 - 7 1516 c.1422C>T c.(1420-1422)aaC>aaT p.N474N TRPV4_ENST00000541794.1_Silent_p.N427N|TRPV4_ENST00000261740.2_Silent_p.N474N|TRPV4_ENST00000346520.2_Silent_p.N414N|TRPV4_ENST00000544971.1_Silent_p.N367N|TRPV4_ENST00000537083.1_Silent_p.N414N|TRPV4_ENST00000536838.1_Silent_p.N440N|TRPV4_ENST00000392719.2_Silent_p.N427N NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 474 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding p.N474N(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AGGAGACCACGTTGATGTAGA 0.622000 9 112 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30312987 30312987 + Nonsense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:30312987G>T ENST00000262643.3 + 9 1069 c.790G>T c.(790-792)Gaa>Taa p.E264* CCNE1_ENST00000357943.5_Nonsense_Mutation_p.E221*|CCNE1_ENST00000444983.2_Nonsense_Mutation_p.E249* NM_001238.2 NP_001229.1 P24864 CCNE1_HUMAN cyclin E1 264 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TGACTTACATGAAGTGCTACT 0.488000 A serous ovarian 8 142 5.18039e-06 5.52768e-06 1 1 0 VPS13B 157680 broad.mit.edu 37 8 100493856 100493856 + Silent SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:100493856C>A ENST00000395996.1 + 25 3807 c.3696C>A c.(3694-3696)atC>atA p.I1232I VPS13B_ENST00000358544.2_Silent_p.I1232I|VPS13B_ENST00000357162.2_Silent_p.I1232I Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1232 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TAACTGATATCATGAATAAGG 0.393000 38 301 3.61848e-18 4.1385e-18 1 1 0 PDCD4 27250 broad.mit.edu 37 10 112641196 112641196 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr10:112641196C>T ENST00000393104.2 + 4 576 c.216C>T c.(214-216)gaC>gaT p.D72D PDCD4_ENST00000280154.7_Silent_p.D83D NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 83 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) GTGGGAGTGACGCCCTTAGAA 0.502000 22 88 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503225 105503225 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:105503225C>T ENST00000276654.5 - 7 2364 c.2256G>A c.(2254-2256)caG>caA p.Q752Q LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.Q733Q NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 752 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GACTCTGGTTCTGACTTAGGG 0.443000 17 107 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 40990715 40990715 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chrX:40990715G>T ENST00000324545.7 + 4 881 c.248G>T c.(247-249)cGa>cTa p.R83L USP9X_ENST00000378308.2_Missense_Mutation_p.R83L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 83 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTAGGCCTCGATGGGTGGTT 0.343000 23 43 1.64293e-13 1.85681e-13 1 1 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:7577106G>A ENST00000420246.2 - 8 964 c.832C>T c.(832-834)Cct>Tct p.P278S TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTCTCCCAGGACAGGCACAA 0.552000 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) 13 31 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30065984 30065984 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:30065984C>G ENST00000222803.5 - 1 316 c.141G>C c.(139-141)ttG>ttC p.L47F NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 47 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 GGACCAACATCAAATCCCCTC 0.428000 19 129 0 0 1 0 0 TADA2A 6871 broad.mit.edu 37 17 35802715 35802715 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:35802715A>G ENST00000394395.2 + 7 666 c.493A>G c.(493-495)Atg>Gtg p.M165V TADA2A_ENST00000225396.6_Missense_Mutation_p.M165V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.M165V|TADA2A_ENST00000586023.1_Missense_Mutation_p.M165V NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 165 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 TTCTCGGGACATGGCCGGGTA 0.418000 4 53 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44222466 44222466 + Missense_Mutation SNP C C G rs150122797 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:44222466C>G ENST00000393812.3 - 4 1419 c.1276G>C c.(1276-1278)Gag>Cag p.E426Q SLC35B2_ENST00000537814.1_Missense_Mutation_p.E293Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E333Q|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 426 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAGGAGACTCAACAGGCACA 0.602000 10 134 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502196 20502196 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:20502196G>A ENST00000315693.2 - 1 723 c.722C>T c.(721-723)tCa>tTa p.S241L NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GATGTGAGCTGAGAGAGTGGA 0.458000 26 64 0 0 1 0 0 OLR1 4973 broad.mit.edu 37 12 10319441 10319441 + Silent SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:10319441T>A ENST00000309539.3 - 3 354 c.294A>T c.(292-294)tcA>tcT p.S98S OLR1_ENST00000432556.2_Silent_p.S98S|OLR1_ENST00000544577.1_Silent_p.S98S|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000545927.1_Silent_p.S98S NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 98 Neck. 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 GTTCGTTTTCTGACTCCTGTG 0.453000 10 157 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18066632 18066632 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:18066632C>T ENST00000205890.5 + 59 10025 c.9687C>T c.(9685-9687)tgC>tgT p.C3229C MYO15A_ENST00000451725.2_Silent_p.C121C|MYO15A_ENST00000418233.3_Silent_p.C493C NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3229 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCAAAACATGCACTGTAAGTG 0.552000 9 88 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123887153 123887153 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:123887153A>G ENST00000320891.4 + 1 872 c.872A>G c.(871-873)aAc>aGc p.N291S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;0.0401) ACCCTGAGAAACAAGGAGGTG 0.433000 16 89 0 0 1 0 0 SSR3 6747 broad.mit.edu 37 3 156272786 156272786 + Silent SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:156272786G>C ENST00000265044.2 - 1 187 c.93C>G c.(91-93)ctC>ctG p.L31L SSR3_ENST00000476217.1_Silent_p.L31L|SSR3_ENST00000467789.1_Silent_p.L31L NM_007107.3 NP_009038.1 Q9UNL2 SSRG_HUMAN signal sequence receptor, gamma (translocon-associated protein gamma) 31 cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTCCGAAGAAGAGCGCGGAGG 0.637000 3 30 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131678540 131678540 + Missense_Mutation SNP G G A rs146661687 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr9:131678540G>A ENST00000259324.5 + 4 2846 c.2323G>A c.(2323-2325)Gag>Aag p.E775K LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 775 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GGAGCTGGGCGAGTGCCCACT 0.662000 8 41 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055487 72055487 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:72055487C>T ENST00000555818.1 + 2 1246 c.898C>T c.(898-900)Cgc>Tgc p.R300C SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 300 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.R300C(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCGTAAATTGCGCAATGCCAA 0.443000 8 99 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55144993 55144993 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:55144993G>C ENST00000414150.2 + 12 2385 c.2107G>C c.(2107-2109)Gaa>Caa p.E703Q MROH7_ENST00000409996.1_Missense_Mutation_p.E271Q|MROH7_ENST00000421030.2_Missense_Mutation_p.E703Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E703Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E703Q|MROH7_ENST00000545244.1_Missense_Mutation_p.E271Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E221Q maestro heat-like repeat family member 7 GGCCGCCCTGGAAGGGCTGAA 0.592000 40 115 0 0 1 0 0 POR 5447 broad.mit.edu 37 7 75612939 75612939 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:75612939C>T ENST00000394893.1 + 9 952 c.932C>T c.(931-933)tCg>tTg p.S311L POR_ENST00000439269.1_Missense_Mutation_p.S49L|POR_ENST00000419840.1_Missense_Mutation_p.S125L|POR_ENST00000461988.1_Missense_Mutation_p.S311L|POR_ENST00000450476.1_Missense_Mutation_p.S210L|POR_ENST00000545601.1_Missense_Mutation_p.S119L P16435 NCPR_HUMAN P450 (cytochrome) oxidoreductase 308 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1) 9 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) TTGGACATCTCGGACTCCAAA 0.622000 14 96 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90030604 90030604 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:90030604G>C ENST00000563594.1 + 11 2026 c.1029G>C c.(1027-1029)gaG>gaC p.E343D DEF8_ENST00000569453.1_Missense_Mutation_p.E343D|DEF8_ENST00000268676.7_Missense_Mutation_p.E404D|DEF8_ENST00000567874.1_Missense_Mutation_p.E283D|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Missense_Mutation_p.E333D NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 404 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) ATTTTGTGGAGAACGACGAGA 0.657000 5 52 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914545 46914545 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:46914545C>G ENST00000307522.3 - 1 2296 c.1523G>C c.(1522-1524)aGa>aCa p.R508T NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 508 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CCTGGGGACTCTCTTGGGCAG 0.622000 9 76 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368688 72368688 + Silent SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:72368688G>A ENST00000335666.4 + 4 1386 c.1338G>A c.(1336-1338)gcG>gcA p.A446A NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 446 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 AGGGCATGGCGGCGAAGCCTG 0.617000 4 41 0 0 1 0 0 SNRNP27 11017 broad.mit.edu 37 2 70131458 70131458 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:70131458G>C ENST00000409116.1 + 5 447 c.421G>C c.(421-423)Gat>Cat p.D141H SNRNP27_ENST00000244227.3_3'UTR Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 0 mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 AGTGTTGAAGGATGATTTTTT 0.348000 7 64 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 32 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56848316 56848316 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:56848316G>T ENST00000257979.4 - 1 110 c.82C>A c.(82-84)Ctg>Atg p.L28M MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 28 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GAGGACCCCAGCCCAAAGAAG 0.587000 9 107 0.00448238 0.00460288 1 1 0 LTBP3 4054 broad.mit.edu 37 11 65314018 65314018 + Nonsense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:65314018C>A ENST00000301873.5 - 16 2516 c.2248G>T c.(2248-2250)Gag>Tag p.E750* LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.E750*|LTBP3_ENST00000536982.1_Nonsense_Mutation_p.E376*|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.E180* NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 750 Cys-rich.|EGF-like 6; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GGGCTGCCCTCGGCGCACTCG 0.726000 4 8 3.59834e-05 3.77628e-05 1 1 0 OR4X2 119764 broad.mit.edu 37 11 48266856 48266856 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:48266856C>T ENST00000302329.3 + 1 249 c.201C>T c.(199-201)tcC>tcT p.S67S NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GCTACTCCTCCGCTACAGCCC 0.502000 19 120 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 60 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109766982 109766982 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:109766982C>T ENST00000368952.4 - 20 3012 c.2722G>A c.(2722-2724)Gtg>Atg p.V908M MICAL1_ENST00000358807.3_Missense_Mutation_p.V889M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V803M Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 889 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) ACCTGTTCCACATCTGAGTCC 0.522000 3 12 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38349184 38349184 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:38349184G>A ENST00000273173.4 + 3 839 c.748G>A c.(748-750)Ggc>Agc p.G250S SLC22A14_ENST00000448498.1_Missense_Mutation_p.G250S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 250 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GTCAGTGGTGGGCTACGCCAT 0.577000 34 100 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74350051 74350051 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:74350051G>C ENST00000226355.3 + 3 307 c.214G>C c.(214-216)Gaa>Caa p.E72Q NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 72 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGACATGGTAGAATACAAAGA 0.388000 14 94 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84350691 84350691 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:84350691C>T ENST00000295488.3 - 12 2666 c.2504G>A c.(2503-2505)cGt>cAt p.R835H HELQ_ENST00000510985.1_Missense_Mutation_p.R768H NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 835 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AAATGAAGCACGTCCCAACTT 0.313000 Other identified genes with known or suspected DNA repair function 7 68 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8720391 8720391 + Missense_Mutation SNP A A T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr18:8720391A>T ENST00000359865.3 + 4 396 c.254A>T c.(253-255)aAg>aTg p.K85M SOGA2_ENST00000400050.3_Missense_Mutation_p.K85M|SOGA2_ENST00000517570.1_Missense_Mutation_p.K85M|SOGA2_ENST00000306329.11_Missense_Mutation_p.K445M|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 436 GTGGAGGAAAAGCGCGCTAAA 0.463000 17 72 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1775232 1775232 + Nonsense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:1775232G>A ENST00000236671.2 - 7 1096 c.964C>T c.(964-966)Cag>Tag p.Q322* RP11-295K3.1_ENST00000427721.1_Silent_p.F192F NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 322 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCTCGCCCTGAATCAGCGGC 0.692000 5 17 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164246608 164246608 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:164246608G>C ENST00000296533.2 - 3 1533 c.1002C>G c.(1000-1002)ttC>ttG p.F334L NPY1R_ENST00000509586.1_Missense_Mutation_p.F91L NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 334 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAAAGTTGAAGAAGAACTGCA 0.418000 24 128 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7343015 7343015 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:7343015C>T ENST00000266563.5 + 2 225 c.42C>T c.(40-42)gcC>gcT p.A14A PEX5_ENST00000412720.2_Silent_p.A35A|PEX5_ENST00000434354.2_Silent_p.A14A|PEX5_ENST00000455147.2_Silent_p.A14A|PEX5_ENST00000266564.3_Silent_p.A14A|PEX5_ENST00000420616.2_Silent_p.A14A|PEX5_ENST00000545220.1_Intron NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 14 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GCGGGGGTGCCAACCCGCTCA 0.667000 21 83 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941241 13941241 + Missense_Mutation SNP T T G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:13941241T>G ENST00000254323.2 + 13 2536 c.2347T>G c.(2347-2349)Tcg>Gcg p.S783A ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S617A NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 783 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GAAGAACCACTCGGCCTTCGA 0.697000 14 144 0 0 1 0 0 SOX12 6666 broad.mit.edu 37 20 307440 307440 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:307440G>A ENST00000342665.2 + 1 1202 c.872G>A c.(871-873)tGc>tAc p.C291Y SOX12_ENST00000544632.1_Missense_Mutation_p.C291Y|RP5-1103G7.4_ENST00000442637.1_RNA NM_006943.2 NP_008874.2 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 291 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCGGACTACTGCACCCCCGAG 0.701000 12 37 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412326 139412326 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr9:139412326C>A ENST00000277541.6 - 8 1394 c.1319G>T c.(1318-1320)tGt>tTt p.C440F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 440 EGF-like 11; 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) GCCCTGCAGACACTGGCACTC 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 25 53 3.28513e-13 3.66935e-13 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29220393 29220393 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:29220393T>C ENST00000321990.4 + 21 4900 c.4522T>C c.(4522-4524)Tat>Cat p.Y1508H NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1508 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGATTTTTTATATAGTAATCT 0.353000 32 135 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854219 40854219 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:40854219C>A ENST00000254691.5 + 3 2984 c.2785C>A c.(2785-2787)Ctc>Atc p.L929I CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 929 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAATCCAGCTCTCCAAATAGG 0.507000 37 154 2.09667e-21 2.42705e-21 1 1 0 PPP2R5D 5528 broad.mit.edu 37 6 42975736 42975736 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:42975736C>T ENST00000485511.1 + 7 969 c.790C>T c.(790-792)Cgc>Tgc p.R264C PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256C|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232C|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158C NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 264 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CATTTTGCATCGCATCTATGG 0.537000 14 152 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27999102 27999102 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:27999102C>T ENST00000269033.3 - 8 730 c.579G>A c.(577-579)gcG>gcA p.A193A RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.A220A NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 193 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGTAGTTATGCGCTCTGGCGA 0.473000 16 75 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 14 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1432607 1432607 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:1432607C>A ENST00000270349.9 - 4 752 c.625G>T c.(625-627)Ggg>Tgg p.G209W SLC6A3_ENST00000453492.2_Missense_Mutation_p.G209W NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 209 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GGTGTGGTCCCAAAAGTGTCG 0.612000 12 36 5.16669e-11 5.73742e-11 1 1 0 NFATC2IP 84901 broad.mit.edu 37 16 28967619 28967619 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:28967619C>T ENST00000320805.4 + 5 882 c.807C>T c.(805-807)atC>atT p.I269I NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 269 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 CACTCAAAATCCGTTGCCGGG 0.607000 4 48 0 0 1 0 0 GGCT 79017 broad.mit.edu 37 7 30538508 30538508 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:30538508C>G ENST00000275428.4 - 3 468 c.334G>C c.(334-336)Gtt>Ctt p.V112L GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.V27L|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.V112L NM_024051.3 NP_076956.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase 112 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 TGAGTTGCAACTTTAACTTCT 0.373000 8 100 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75673268 75673268 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:75673268C>T ENST00000395743.3 - 5 880 c.520G>A c.(520-522)Gag>Aag p.E174K NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 174 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) ATATTTGTCTCTTCAATATCT 0.338000 9 58 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74734467 74734467 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:74734467C>T ENST00000588460.1 + 1 2075 c.33C>T c.(31-33)atC>atT p.I11I MFSD11_ENST00000593181.1_Silent_p.I11I|MFSD11_ENST00000591864.1_Silent_p.I11I|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.I11I|MFSD11_ENST00000590393.1_Silent_p.I11I|MFSD11_ENST00000586622.1_Silent_p.I11I|MFSD11_ENST00000355954.3_Silent_p.I11I|MFSD11_ENST00000336509.4_Silent_p.I11I NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 11 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TTTTCAACATCATTATTTTAG 0.502000 8 44 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64032844 64032844 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:64032844C>T ENST00000540288.1 + 25 3008 c.2905C>T c.(2905-2907)Cgg>Tgg p.R969W PLCB3_ENST00000325234.5_Missense_Mutation_p.R902W|PLCB3_ENST00000279230.6_Missense_Mutation_p.R969W NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 969 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GCTCCGGAGCCGGCAAGAGCG 0.692000 3 23 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100796680 100796680 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:100796680C>T ENST00000358544.2 + 43 8103 c.7992C>T c.(7990-7992)agC>agT p.S2664S VPS13B_ENST00000357162.2_Silent_p.S2639S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2664 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACCAGTACAGCTGGCGCTCTC 0.473000 34 133 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345320 20345320 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:20345320G>T ENST00000298642.2 + 1 930 c.894G>T c.(892-894)atG>atT p.M298I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGATAGCCATGAGGAAACTGA 0.343000 15 107 1.3612e-06 1.46887e-06 1 1 0 BEST2 54831 broad.mit.edu 37 19 12866735 12866735 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:12866735G>A ENST00000549706.1 + 8 1258 c.934G>A c.(934-936)Gat>Aat p.D312N BEST2_ENST00000042931.1_Missense_Mutation_p.D312N|BEST2_ENST00000553030.1_Missense_Mutation_p.D312N Q8NFU1 BEST2_HUMAN bestrophin 2 312 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 CTTTCTGATCGATAGAAACTT 0.542000 4 70 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159433849 159433849 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:159433849G>C ENST00000389757.3 + 3 324 c.199G>C c.(199-201)Gaa>Caa p.E67Q PKP4_ENST00000389759.3_Missense_Mutation_p.E67Q NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 67 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CAGTCAGCTAGAAAGATGTAG 0.478000 HNSCC(62;0.18) 6 33 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127339922 127339922 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:127339922G>T ENST00000265056.7 + 15 2699 c.2455G>T c.(2455-2457)Gcc>Tcc p.A819S MCM2_ENST00000468414.1_3'UTR NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 819 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GCAGACTTTTGCCCGCTACCT 0.547000 18 194 3.41278e-10 3.76787e-10 1 1 0 PRSS22 64063 broad.mit.edu 37 16 2903246 2903246 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:2903246C>T ENST00000161006.3 - 6 867 c.802G>A c.(802-804)Gag>Aag p.E268K PRSS22_ENST00000571228.1_Missense_Mutation_p.E158K NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 268 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CTGTTGCGCTCGGCACAGCCC 0.721000 6 38 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155989899 155989899 + Silent SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:155989899T>A ENST00000295702.4 - 2 131 c.60A>T c.(58-60)ggA>ggT p.G20G SSR2_ENST00000480567.1_Silent_p.G20G|SSR2_ENST00000496742.1_Silent_p.G20G|SSR2_ENST00000529008.1_Silent_p.G20G NM_003145.3 NP_003136.1 P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 20 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AAAGCCTGGCTCCTTCCTCTG 0.468000 17 60 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56961080 56961080 + Nonsense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr15:56961080G>A ENST00000559237.1 - 13 2130 c.1447C>T c.(1447-1449)Caa>Taa p.Q483* ZNF280D_ENST00000396245.1_Nonsense_Mutation_p.Q200*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.Q483*|ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.Q496* NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CGATGGTGTTGAGTCTTATGA 0.313000 11 87 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48560992 48560992 + Silent SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:48560992C>G ENST00000232375.3 - 12 1375 c.1263G>C c.(1261-1263)ctG>ctC p.L421L PFKFB4_ENST00000383734.2_Silent_p.L386L|PFKFB4_ENST00000416568.1_Silent_p.L414L|PFKFB4_ENST00000541519.1_Silent_p.L387L|PFKFB4_ENST00000536104.1_Silent_p.L410L|PFKFB4_ENST00000490115.1_5'UTR NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 421 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GAGTCAGCTTCAGGACTGTGT 0.522000 10 69 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47646751 47646751 + Nonsense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:47646751C>T ENST00000398742.2 + 3 197 c.148C>T c.(148-150)Cag>Tag p.Q50* GPR111_ENST00000507065.1_Nonsense_Mutation_p.Q50*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.Q118* Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 118 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGACTACTCCCAGTGTACTCA 0.512000 17 81 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023178 31023178 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:31023178A>G ENST00000375687.4 + 13 3087 c.2663A>G c.(2662-2664)aAg>aGg p.K888R ASXL1_ENST00000306058.5_Missense_Mutation_p.K883R NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 888 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TTGAAAACCAAGGCTCTCGTT 0.448000 """F, N, Mis""" """MDS, CMML""" 34 162 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29913096 29913096 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:29913096A>G ENST00000490103.1 - 17 1725 c.1603T>C c.(1603-1605)Ttc>Ctc p.F535L CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F535L|THOC5_ENST00000397872.1_Missense_Mutation_p.F535L|THOC5_ENST00000397873.2_Missense_Mutation_p.F535L NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 535 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCTTTGGTGAAGTGCAGCTCC 0.537000 10 78 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159655365 159655365 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:159655365G>T ENST00000297267.9 + 11 4021 c.3821G>T c.(3820-3822)gGc>gTc p.G1274V FNDC1_ENST00000340366.6_Missense_Mutation_p.G1211V NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1274 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCCGTCGCGGGCACCCACCCC 0.706000 3 21 0.115264 0.115871 1 1 0 UBA52 7311 broad.mit.edu 37 19 18684147 18684147 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:18684147A>G ENST00000442744.2 + 2 95 c.37A>G c.(37-39)Atc>Gtc p.I13V UBA52_ENST00000598780.1_Missense_Mutation_p.I13V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.I13V|UBA52_ENST00000599595.1_Missense_Mutation_p.I13V|UBA52_ENST00000596304.1_Missense_Mutation_p.I13V|UBA52_ENST00000596273.1_Missense_Mutation_p.I13V|UBA52_ENST00000430157.2_Missense_Mutation_p.I13V|UBA52_ENST00000595158.1_Missense_Mutation_p.I13V|UBA52_ENST00000595683.1_Missense_Mutation_p.I13V|UBA52_ENST00000597451.1_Missense_Mutation_p.I13V NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 13 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 TGGCAAAACCATCACCCTTGA 0.537000 7 47 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257103 16257103 + Silent SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:16257103A>G ENST00000375759.3 + 11 4572 c.4368A>G c.(4366-4368)tcA>tcG p.S1456S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1456 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCCTCTCTTCATCTCGTGAAG 0.368000 13 114 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581448 7581448 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:7581448C>T ENST00000379802.3 + 23 5366 c.5025C>T c.(5023-5025)gtC>gtT p.V1675V DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1675 Central fibrous rod domain. 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) AGGAAAGTGTCAAACAAGCTC 0.493000 13 145 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62939604 62939604 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr15:62939604G>A ENST00000561311.1 + 3 325 c.95G>A c.(94-96)cGa>cAa p.R32Q TLN2_ENST00000306829.6_Missense_Mutation_p.R32Q Q9Y4G6 TLN2_HUMAN talin 2 32 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GATGCGTGTCGAGTCATTCGG 0.473000 15 175 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200245204 200245204 + Silent SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:200245204T>A ENST00000443023.1 - 4 1768 c.303A>T c.(301-303)tcA>tcT p.S101S SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Silent_p.S160S|SATB2_ENST00000457245.1_Silent_p.S160S|SATB2_ENST00000417098.1_Silent_p.S160S|SATB2_ENST00000428695.1_Intron Q9UPW6 SATB2_HUMAN SATB homeobox 2 160 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTCCAACTTTGAACAACTGC 0.483000 8 84 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21747407 21747407 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:21747407C>G ENST00000328843.6 + 41 6689 c.6658C>G c.(6658-6660)Ctc>Gtc p.L2220V DNAH11_ENST00000409508.3_Missense_Mutation_p.L2213V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2220 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AACAGATGAACTCTTTGGTTT 0.393000 Kartagener syndrome 4 38 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29627077 29627077 + Silent SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:29627077G>T ENST00000334018.6 + 6 722 c.534G>T c.(532-534)ccG>ccT p.P178P EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Silent_p.P178P|EMID1_ENST00000404755.3_Silent_p.P178P NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 176 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 ACCCTGCCCCGCTCTGGGGTC 0.637000 9 85 1.58986e-06 1.70598e-06 1 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030432 95030432 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:95030432G>A ENST00000557004.1 + 2 1034 c.613G>A c.(613-615)Gtc>Atc p.V205I SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205I|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205I P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 205 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.V205F(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CAAGAAGGACGTCTTGATGGT 0.458000 15 209 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822625 8822625 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:8822625C>T ENST00000234091.4 + 3 1190 c.330C>T c.(328-330)atC>atT p.I110I ID2_ENST00000396290.1_Silent_p.I110I|ID2_ENST00000331129.3_Silent_p.I110I Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 110 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACACGGATATCAGCATCCTGT 0.652000 5 67 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915167 46915167 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr19:46915167C>T ENST00000307522.3 - 1 1674 c.901G>A c.(901-903)Gat>Aat p.D301N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 301 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTTGACTATCTGCAGCCTCT 0.627000 12 186 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7566626 7566626 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:7566626T>C ENST00000379802.3 + 8 1297 c.956T>C c.(955-957)cTg>cCg p.L319P DSP_ENST00000418664.2_Missense_Mutation_p.L319P NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 319 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. 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) ATGAGTCAACTGGAAGTTAAA 0.378000 15 59 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966576 41966576 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:41966576G>C ENST00000298919.7 + 10 1603 c.1215G>C c.(1213-1215)gaG>gaC p.E405D PDZRN4_ENST00000402685.2_Missense_Mutation_p.E665D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E407D Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 665 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGGAGCATGAGCTACAGTTGC 0.443000 10 87 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824021 38824021 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:38824021C>T ENST00000303592.3 - 2 375 c.117G>A c.(115-117)tcG>tcA p.S39S NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 39 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TGTAGCGCTGCGACTTGTTGC 0.612000 55 282 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44202113 44202113 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr15:44202113C>T ENST00000417257.1 - 5 570 c.394G>A c.(394-396)Gat>Aat p.D132N FRMD5_ENST00000484674.1_Missense_Mutation_p.D43N|FRMD5_ENST00000402883.1_Missense_Mutation_p.D132N NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 132 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) AAGGCAGCATCCGATGTTTTA 0.388000 OREG0003950 type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 53 0 0 1 0 0 PLSCR4 57088 broad.mit.edu 37 3 145913005 145913005 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:145913005G>A ENST00000354952.2 - 8 1091 c.851C>T c.(850-852)tCa>tTa p.S284L PLSCR4_ENST00000446574.2_Missense_Mutation_p.S284L|PLSCR4_ENST00000383083.2_Missense_Mutation_p.S194L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S284L|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S179L NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 284 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 TGCCATTGCTGATAACAAACC 0.423000 21 111 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71783838 71783838 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:71783838G>A ENST00000299980.4 - 15 1897 c.1456C>T c.(1456-1458)Ctt>Ttt p.L486F AP1G1_ENST00000393512.3_Missense_Mutation_p.L489F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L486F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L489F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L509F NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 486 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GATACAAGAAGATCACCATAT 0.408000 38 269 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75171237 75171237 + Splice_Site SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:75171237C>T ENST00000336926.6 - 29 2979 c.e29+1 HIP1_ENST00000434438.2_Splice_Site NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GGAGCTCTCACCTGAGAATCC 0.443000 T PDGFRB CMML 14 94 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2236796 2236796 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:2236796C>A ENST00000343516.6 - 10 1052 c.960G>T c.(958-960)tgG>tgT p.W320C NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 320 SH3. signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 TGCAGCCCTTCCACCGGCCAT 0.662000 11 52 0.010729 0.0109002 1 1 0 SPON1 10418 broad.mit.edu 37 11 14277228 14277228 + RNA SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:14277228C>A ENST00000310358.7 + 0 1663 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGGAGAAAATCCGGCCCCTGA 0.488000 19 114 7.21436e-19 8.30086e-19 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95539335 95539335 + Silent SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:95539335G>A ENST00000297591.5 - 8 1212 c.1137C>T c.(1135-1137)atC>atT p.I379I KIAA1429_ENST00000437199.1_Silent_p.I379I|KIAA1429_ENST00000421249.2_Silent_p.I379I NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 379 mRNA processing|RNA splicing nucleus p.I379I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTGAGGCTTCGATTGCCCCTG 0.343000 9 260 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68527764 68527764 + Nonsense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:68527764G>A ENST00000265641.5 - 17 2225 c.2071C>T c.(2071-2073)Cag>Tag p.Q691* CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q691* NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 691 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ACTTGCTGCTGAGGGGTCTGG 0.552000 4 49 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160990822 160990822 + Silent SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:160990822G>C ENST00000368026.6 - 1 316 c.42C>G c.(40-42)ctC>ctG p.L14L F11R_ENST00000537746.1_Silent_p.L14L|F11R_ENST00000289779.3_3'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 14 blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) CCAATATGAAGAGGCACAACA 0.587000 9 35 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10622312 10622312 + Silent SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:10622312G>A ENST00000254958.5 - 23 3227 c.2712C>T c.(2710-2712)ctC>ctT p.L904L JAG1_ENST00000423891.2_Silent_p.L745L NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 904 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GCCCTTTGTGGAGCAGGCAAG 0.612000 Alagille Syndrome 15 66 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21723498 21723498 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr7:21723498T>C ENST00000328843.6 + 33 5609 c.5578T>C c.(5578-5580)Ttc>Ctc p.F1860L DNAH11_ENST00000409508.3_Missense_Mutation_p.F1853L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1860 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGATGCCCAGTTCCAGTACTT 0.433000 Kartagener syndrome 14 172 0 0 1 0 0 CXCL14 9547 broad.mit.edu 37 5 134910294 134910294 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:134910294G>C ENST00000337225.5 - 3 752 c.288C>G c.(286-288)atC>atG p.I96M CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.I84M NM_004887.4 NP_004878.2 O95715 CXL14_HUMAN chemokine (C-X-C motif) ligand 14 96 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity large_intestine(2)|lung(2)|prostate(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTACCACTTGATGAAGCGCT 0.602000 4 48 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20885141 20885141 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr9:20885141A>G ENST00000380249.1 + 23 2901 c.2537A>G c.(2536-2538)tAt>tGt p.Y846C FOCAD_ENST00000338382.6_Missense_Mutation_p.Y846C|FOCAD_ENST00000605086.1_Missense_Mutation_p.Y282C NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 846 integral to membrane binding GTTTCCATGTATCAGAGTAAA 0.338000 16 55 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639390 6639390 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:6639390G>A ENST00000333172.6 + 6 2465 c.2272G>A c.(2272-2274)Gag>Aag p.E758K TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 758 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GAACTACAACGAGGCCAAATG 0.572000 22 63 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94007049 94007049 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:94007049G>A ENST00000553484.1 + 13 1550 c.1396G>A c.(1396-1398)Gag>Aag p.E466K UNC79_ENST00000256339.4_Missense_Mutation_p.E289K|UNC79_ENST00000555664.1_Missense_Mutation_p.E466K|UNC79_ENST00000393151.2_Missense_Mutation_p.E466K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 466 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCGAGAACATGAGCTGAACCG 0.483000 10 95 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62850283 62850283 + Silent SNP C C T rs61747595 byFrequency TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:62850283C>T ENST00000536311.1 + 12 2311 c.1947C>T c.(1945-1947)gaC>gaT p.D649D MYT1_ENST00000328439.1_Silent_p.D622D|MYT1_ENST00000360149.4_Silent_p.D324D Q01538 MYT1_HUMAN myelin transcription factor 1 622 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACTCGCAGGACGCCGAGGCTG 0.597000 5 122 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159343986 159343986 + Missense_Mutation SNP T T G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:159343986T>G ENST00000306675.3 + 1 197 c.74T>G c.(73-75)tTc>tGc p.F25C NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 25 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AATGCCAACTTCACTGGCCCC 0.597000 5 64 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871704 63871704 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:63871704C>T ENST00000334025.2 + 3 762 c.436C>T c.(436-438)Ctg>Ttg p.L146L RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 146 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CATATGTCTGCTGGGGTCTCT 0.418000 6 93 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744353 81744353 + Silent SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:81744353G>T ENST00000555447.1 - 6 1714 c.1302C>A c.(1300-1302)atC>atA p.I434I STON2_ENST00000267540.2_Silent_p.I434I NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 434 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TCTTCTCAGGGATCCTCAACA 0.537000 16 238 0.000308642 0.000320384 1 1 0 TTC33 23548 broad.mit.edu 37 5 40716521 40716521 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:40716521C>T ENST00000337702.4 - 5 667 c.515G>A c.(514-516)aGa>aAa p.R172K TTC33_ENST00000503936.2_5'UTR NM_012382.2 NP_036514.1 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 172 binding NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1) 11 CTGGAGCGTTCTTGCCCAAGA 0.423000 11 150 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378702 114378702 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:114378702C>G ENST00000312719.5 - 5 1948 c.760G>C c.(760-762)Gat>Cat p.D254H RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.D254H|RP3-399L15.3_ENST00000519270.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 254 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CGATCTCCATCGACGACATGA 0.418000 8 158 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29937220 29937220 + Silent SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:29937220C>T ENST00000568000.1 - 1 1136 c.135G>A c.(133-135)ctG>ctA p.L45L KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L45L NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 45 BTB. cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 CGCCCACGTTCAGCTTCACGT 0.672000 7 54 0 0 1 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113659993 113659993 + RNA SNP A A C rs906846 by1000genomes TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:113659993A>C ENST00000393544.2 + 0 41 GGCAGCATGTAGGTTGCAGGG 0.657000 4 21 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38957791 38957791 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:38957791C>T ENST00000357387.3 - 25 2492 c.2462G>A c.(2461-2463)aGa>aAa p.R821K RICTOR_ENST00000296782.5_Missense_Mutation_p.R821K|RICTOR_ENST00000503698.1_5'UTR NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 821 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TACATAACCTCTTTCATTCAG 0.308000 12 93 0 0 1 0 0 C1orf101 257044 broad.mit.edu 37 1 244681992 244681992 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:244681992G>C ENST00000366534.4 + 8 582 c.528G>C c.(526-528)atG>atC p.M176I C1orf101_ENST00000366533.4_Missense_Mutation_p.M176I|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.M25I NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 176 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ATGAGAAAATGAGAAGGGGGt 0.299000 10 62 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24219248 24219248 + Silent SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:24219248G>A ENST00000345044.6 + 5 694 c.426G>A c.(424-426)caG>caA p.Q142Q SLC2A11_ENST00000405847.1_Silent_p.Q142Q|SLC2A11_ENST00000316185.8_Silent_p.Q145Q|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.Q107Q|SLC2A11_ENST00000398356.2_Silent_p.Q149Q Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 142 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 TGAACATCCAGCCCATGTACC 0.642000 12 76 0 0 1 0 0 DCK 1633 broad.mit.edu 37 4 71892453 71892453 + Missense_Mutation SNP A A T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:71892453A>T ENST00000286648.5 + 6 1134 c.737A>T c.(736-738)tAt>tTt p.Y246F DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.Y246F NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 246 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) AAAGACAAATATGAAAGTCTG 0.294000 10 50 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196796099 196796099 + Silent SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:196796099C>A ENST00000320493.5 + 3 482 c.394C>A c.(394-396)Cgg>Agg p.R132R CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Silent_p.R132R NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 132 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 ATGTGTAGAACGGGGCTGGTC 0.393000 19 78 3.32936e-07 3.61311e-07 1 1 0 DSP 1832 broad.mit.edu 37 6 7585993 7585993 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:7585993C>A ENST00000379802.3 + 24 8839 c.8498C>A c.(8497-8499)tCt>tAt p.S2833Y DSP_ENST00000418664.2_Missense_Mutation_p.S2234Y NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2833 6 X 4 AA tandem repeats of G-S-R-[SR].|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) cgctcgggatctcgctccgga 0.617000 10 121 2.17888e-05 2.31203e-05 1 1 0 RET 5979 broad.mit.edu 37 10 43612115 43612115 + Missense_Mutation SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr10:43612115G>T ENST00000355710.3 + 12 2452 c.2220G>T c.(2218-2220)aaG>aaT p.K740N RET_ENST00000340058.5_Missense_Mutation_p.K740N NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 740 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AAGTGGTCAAGGCAACGGCCT 0.532000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 32 174 8.16721e-17 9.28534e-17 1 1 0 SIRPB1 10326 broad.mit.edu 37 20 1558986 1558986 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr20:1558986C>T ENST00000381605.4 - 2 495 c.431G>A c.(430-432)cGc>cAc p.R144H RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144H NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 144 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GTACTCACCGCGCACAGACAG 0.552000 24 131 0 0 1 0 0 TBK1 29110 broad.mit.edu 37 12 64891448 64891448 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:64891448G>C ENST00000331710.5 + 19 2319 c.1980G>C c.(1978-1980)caG>caC p.Q660H NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 660 I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) CTCTGCCTCAGAAAATGTTTA 0.333000 16 58 0 0 1 0 0 PWP1 11137 broad.mit.edu 37 12 108086644 108086644 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:108086644G>C ENST00000412830.3 + 4 541 c.373G>C c.(373-375)Gat>Cat p.D125H PWP1_ENST00000541166.1_Missense_Mutation_p.D63H NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 125 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 CGGGAGTAATGATCAAGATCC 0.348000 11 51 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794745 124794745 + Silent SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:124794745A>G ENST00000298251.4 - 2 711 c.306T>C c.(304-306)ttT>ttC p.F102F NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 102 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AGCCATTTTCAAAGAGTCGGA 0.592000 28 122 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220986691 220986691 + Silent SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:220986691G>C ENST00000366910.5 + 7 1131 c.945G>C c.(943-945)ggG>ggC p.G315G MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 315 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CACTCTTTGGGCAGTATTTTG 0.473000 10 154 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378831 114378831 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:114378831C>G ENST00000312719.5 - 5 1819 c.631G>C c.(631-633)Gag>Cag p.E211Q RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E211Q|RP3-399L15.3_ENST00000519270.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 211 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GCCAGCTTCTCAAACTTGTAA 0.413000 27 328 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18022154 18022154 + Nonsense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr22:18022154G>A ENST00000262608.8 + 15 2259 c.2259G>A c.(2257-2259)tgG>tgA p.W753* CECR2_ENST00000400573.4_Nonsense_Mutation_p.W752*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.W611* NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 794 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CTGCCGTCTGGAATGGGAACC 0.577000 12 50 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57828902 57828902 + Missense_Mutation SNP A A C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr12:57828902A>C ENST00000309668.2 + 1 360 c.233A>C c.(232-234)cAc>cCc p.H78P INHBC_ENST00000550133.1_Missense_Mutation_p.H78P NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 78 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 GCACTGCAGCACCTCCACGGG 0.567000 5 61 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46979498 46979498 + Silent SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:46979498G>C ENST00000264318.3 - 4 1405 c.423C>G c.(421-423)gtC>gtG p.V141V NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 141 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATTATGTGAGACAGATTTCT 0.328000 7 68 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552562 140552562 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:140552562C>T ENST00000231137.3 + 1 320 c.146C>T c.(145-147)gCa>gTa p.A49V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 49 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCAACTTGGCAAAAGACCTA 0.493000 14 92 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907281 153907281 + Missense_Mutation SNP G G C rs3835302 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:153907281G>C ENST00000361217.4 - 18 3146 c.2728C>G c.(2728-2730)Cag>Gag p.Q910E NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 910 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACctgctcctgctgctgctgc 0.637000 5 49 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70993468 70993468 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:70993468G>A ENST00000357250.6 - 6 910 c.752C>T c.(751-753)aCt>aTt p.T251I COL9A1_ENST00000370496.3_Missense_Mutation_p.T251I NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 251 Nonhelical region (NC4). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTCATGGCAAGTTTCTCTCCT 0.522000 4 22 0 0 1 0 0 RPAP2 79871 broad.mit.edu 37 1 92789163 92789163 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:92789163C>A ENST00000370343.3 + 8 795 c.686C>A c.(685-687)cCa>cAa p.P229Q RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 229 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TCCATTCTACCAGGAAACAGA 0.383000 17 115 1.15088e-07 1.2561e-07 1 1 0 CNOT6L 246175 broad.mit.edu 37 4 78697453 78697453 + Silent SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr4:78697453T>C ENST00000504123.1 - 2 229 c.99A>G c.(97-99)aaA>aaG p.K33K CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.K33K Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 33 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CCCAGTGAGATTTTTTCCCAT 0.373000 27 131 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39782292 39782292 + Splice_Site SNP G G T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr8:39782292G>T ENST00000518237.1 + 8 1346 c.e8+1 RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Splice_Site NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) ATTTGTCTGGGTATGTAGTCT 0.353000 3 13 1 1 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3239737 3239737 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chrX:3239737A>G ENST00000217939.6 - 5 4143 c.3989T>C c.(3988-3990)gTt>gCt p.V1330A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1330 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATTTGTGGCAACATCATCCTT 0.378000 14 67 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164716372 164716372 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:164716372C>T ENST00000264382.3 - 38 4558 c.4496G>A c.(4495-4497)gGa>gAa p.G1499E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1499 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) ATAGTTGTCTCCAAGCCAGTG 0.388000 HNSCC(35;0.089) 8 155 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142779482 142779482 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:142779482C>G ENST00000343796.2 - 2 1916 c.923G>C c.(922-924)gGa>gCa p.G308A NR3C1_ENST00000231509.3_Missense_Mutation_p.G308A|NR3C1_ENST00000394466.2_Missense_Mutation_p.G308A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.G308A|NR3C1_ENST00000424646.2_Missense_Mutation_p.G308A|NR3C1_ENST00000503201.1_Missense_Mutation_p.G308A|NR3C1_ENST00000394464.2_Missense_Mutation_p.G308A|NR3C1_ENST00000415690.2_Missense_Mutation_p.G308A NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 308 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TATATTTGCTCCAGGAAAGCT 0.418000 14 144 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588376 247588376 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:247588376C>T ENST00000366497.2 + 4 2411 c.1631C>T c.(1630-1632)aCg>aTg p.T544M NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.T544M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 544 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.T544M(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAGGAAGGACGAACGTTCCA 0.473000 8 49 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67691743 67691743 + Missense_Mutation SNP C C A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr16:67691743C>A ENST00000219251.8 - 11 1800 c.1469G>T c.(1468-1470)aGg>aTg p.R490M ACD_ENST00000393919.4_Missense_Mutation_p.R493M NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 493 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) ATCACGATGCCTCTTTGGGGG 0.587000 27 68 1.75199e-13 1.96841e-13 1 1 0 RPAP2 79871 broad.mit.edu 37 1 92789160 92789160 + Missense_Mutation SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr1:92789160T>A ENST00000370343.3 + 8 792 c.683T>A c.(682-684)cTa>cAa p.L228Q RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 228 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TCCTCCATTCTACCAGGAAAC 0.383000 18 114 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55252633 55252633 + Missense_Mutation SNP T T C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:55252633T>C ENST00000337526.6 - 3 2845 c.2602A>G c.(2602-2604)Ata>Gta p.I868V RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I662V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I662V|RTN4_ENST00000404909.1_Missense_Mutation_p.I662V|RTN4_ENST00000354474.6_Missense_Mutation_p.I636V|RTN4_ENST00000405240.1_Missense_Mutation_p.I662V|RTN4_ENST00000402434.2_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 868 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 AACTCATCTATAATTTCAATT 0.333000 21 86 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70728861 70728861 + Missense_Mutation SNP C C T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr10:70728861C>T ENST00000354185.4 + 7 1318 c.1220C>T c.(1219-1221)aCg>aTg p.T407M NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 407 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 ACTCAGAAAACGGCAATAACT 0.328000 10 79 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552561 140552561 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:140552561G>C ENST00000231137.3 + 1 319 c.145G>C c.(145-147)Gca>Cca p.A49P NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 49 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACCAACTTGGCAAAAGACCT 0.493000 13 92 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790999 8790999 + Splice_Site SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr17:8790999G>A ENST00000447110.1 - 11 1742 c.1616_splice c.e11-1 p.R540_splice PIK3R5_ENST00000584803.1_Splice_Site_p.R540_splice|PIK3R5_ENST00000581552.1_Splice_Site_p.R540_splice NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 540 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TTCTCCAGCCGCCTGGCAAGA 0.582000 3 10 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32172089 32172089 + Silent SNP T T A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:32172089T>A ENST00000375023.3 - 19 3081 c.2943A>T c.(2941-2943)ggA>ggT p.G981G NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 981 EGF-like 25. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGTACAGGTTCCATGGTTGT 0.562000 7 46 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764402 140764402 + Missense_Mutation SNP G G A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:140764402G>A ENST00000518325.1 + 1 1936 c.1936G>A c.(1936-1938)Gtc>Atc p.V646I PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGTGGCCGTCCAGGACCA 0.662000 8 57 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29356553 29356553 + Missense_Mutation SNP C C G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:29356553C>G ENST00000320081.5 + 5 655 c.400C>G c.(400-402)Cag>Gag p.Q134E CLIP4_ENST00000401605.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000401617.2_Missense_Mutation_p.Q27E|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q134E NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 134 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) ATTTGCAACTCAGCTTATTGA 0.368000 15 42 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48026701 48026714 + Frame_Shift_Del DEL CTGGAAGGTGATCC CTGGAAGGTGATCC - rs63751090 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr2:48026701_48026714delCTGGAAGGTGATCC ENST00000234420.4 + 4 1731_1744 c.1579_1592delCTGGAAGGTGATCC c.(1579-1593)cfs p.LEGDP527fs MSH6_ENST00000540021.1_Frame_Shift_Del_p.LEGDP397fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Del_p.LEGDP225fs NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 527 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTACAGTGTGCTGGAAGGTGATCCCTCTGAGAAC 0.435 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 11 85 --- --- --- --- FAM131A 131408 broad.mit.edu 37 3 184062544 184062547 + Frame_Shift_Del DEL TGGG TGGG - rs145523198 byFrequency TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr3:184062544_184062547delTGGG ENST00000310585.4 + 3 2158_2161 c.794_797delTGGG c.(793-798)ccfs p.LG265fs FAM131A_ENST00000383847.2_Frame_Shift_Del_p.LG296fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000418281.1_Frame_Shift_Del_p.LG173fs|FAM131A_ENST00000453072.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000450976.1_Frame_Shift_Del_p.LG211fs Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 265 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCCGCAGCCTGGGCCCACTGGAG 0.691 11 181 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 4 6 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 8 92 --- --- --- --- PLG 5340 broad.mit.edu 37 6 161139457 161139457 + Frame_Shift_Del DEL C C - TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr6:161139457delC ENST00000308192.9 + 8 982 c.919delC c.(919-921)atfs p.H307fs NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 307 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCCTCACACACATAACAGGAC 0.512 13 115 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 7 10 --- --- --- --- IL25 64806 broad.mit.edu 37 14 23842343 23842350 + Frame_Shift_Del DEL AGATTAGG AGATTAGG - TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr14:23842343_23842350delAGATTAGG ENST00000329715.2 + 1 274_281 c.16_23delAGATTAGG c.(16-24)tfs p.RLG6fs IL25_ENST00000397242.2_Intron NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 6 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) GGAGCGACCCAGATTAGGTGAGGACAGT 0.596 13 116 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 7 30 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049306 11049307 + RNA INS - - T rs57143135 TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15380da5-6a0b-4649-b21b-ce1ed7d61b67 717e9800-2dac-4894-a61b-8c3cb6082364 g.chr21:11049306_11049307insT ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCCAGTAATTTTTTTAAGT 0.272 7 69 --- --- --- ---